[ { "uniprot_canonical_ac": "Q5K4L6-1", "uniprot_id": "S27A3_HUMAN", "mass": 73550.0, "length": 683, "protein_name": "Long-chain fatty acid transport protein 3", "gene_name": "SLC27A3", "organism": "Human", "refseq_name": "long-chain fatty acid transport protein 3 isoform 2", "refseq_ac": "NP_001304858", "gene_names_uniprotkb": "SLC27A3; ACSVL3; FATP3; PRO703; PSEC0067", "gene_names_refseq": "ACSVL3; FATP3; SLC27A3; VLCS-3", "protein_names_uniprotkb": "Long-chain fatty acid transport protein 3; 6.2.1.-; 6.2.1.15; 6.2.1.3; Arachidonate--CoA ligase; FATP-3; Fatty acid transport protein 3; Long-chain-fatty-acid--CoA ligase; Solute carrier family 27 member 3; VLCS-3; Very long-chain acyl-CoA synthetase homolog 3", "protein_names_refseq": "arachidonate--CoA ligase; long-chain fatty acid transport protein 3 isoform 2; long-chain fatty acid transport protein 3; long-chain-fatty-acid--CoA ligase; solute carrier family 27 (fatty acid transporter), member 3; very long-chain acyl-CoA synthetase homolog 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:11000); (R-HSA-75876)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10548543;10954726;11237011;11889465;12371743;12482854;12525535;12975309;12975357;15469937;16036915;16371355;17379924;17681178;17762044;18003621;18554506;18728184;19505953;19826053;19920185;20937905;21959040;23936004;24893952;26548558;28510447;29557506;31154438;31844290;31848261;32157095;32161166;32387766;32439798;32488085;32983136;33981976;35051231;35318648;35580925;36284347;40914422;8075637", "class_list": "", "function": "ACSVL3 maintains oncogenic properties of malignant glioma cells via a mechanism that involves, in part, the regulation of Akt function., [RefSeq, PubMed]; Mainly functions as an acyl-CoA ligase catalyzing the ATP-dependent formation of fatty acyl-CoA using LCFA and very-long-chain fatty acids (VLCFA) as substrates (PubMed:23936004). Can mediate the levels of long-chain fatty acids (LCFA) in the cell by facilitating their transport across membranes (By similarity)., [UniProtKB, PubMed, UniProtKB]; Our findings indicate that the lipid metabolism enzyme ACSVL3 is involved in GBM stem cell maintenance and the tumor-initiating capacity of GBM stem cell enriched-neurospheres in animals Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to a family of integral membrane proteins and encodes a protein that is involved in lipid metabolism. The increased expression of this gene in human neural stem cells derived from induced pluripotent stem cells suggests that it plays an important role in early brain development. Naturally occurring mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]., [RefSeq]; We resequenced the SLC27A3 and SLC27A4 genes using 267 autism spectrum disorders(ASD) patient and 1140 control samples and detected 47 and 30 variants for the SLC27A3 and SLC27A4, revealing that they are highly polymorphic with multiple rare variants. Erratum:[Sci Rep. 2016 Jan 29;6:20268. doi: 10.1038/srep20268. PMID: 26822806] 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5VUQ7;Q5VUQ8;Q5VUR3;Q6ZV16;Q8N2X7;Q8TEJ0;Q96SW5;Q9BTJ5;Q9BTY5", "ec_number_list": "6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;6.2.1.2;6.2.1.25;6.2.1.76", "go_molecular_function": "GO:0005524 ATP binding;GO:0004467 long-chain fatty acid-CoA ligase activity;GO:0031957 very long-chain fatty acid-CoA ligase activity;GO:0047676 arachidonate-CoA ligase activity;GO:0000166 nucleotide binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031966 mitochondrial membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0001676 long-chain fatty acid metabolic process;GO:0015908 fatty acid transport", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q5K4L6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5XPI4-1", "uniprot_id": "RN123_HUMAN", "mass": 148515.0, "length": 1314, "protein_name": "E3 ubiquitin-protein ligase RNF123", "gene_name": "RNF123", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF123", "refseq_ac": "NP_071347", "gene_names_uniprotkb": "RNF123; FP1477; KPC1", "gene_names_refseq": "FP1477; KPC1; RNF123", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF123; 2.3.2.27; Kip1 ubiquitination-promoting complex protein 1; RING finger protein 123", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF123; Kip1 ubiquitination-promoting complex subunit 1; RING-type E3 ubiquitin transferase RNF123; kip1 ubiquitination-promoting complex protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:63891); (R-HSA-5689880); (R-HSA-983168)", "pathway_count": 3, "publication_count": 160, "publication_id_list": "10.1101/2023.09.13.557529;10444327;10982817;11062501;11230166;11237011;11350924;11566882;11923872;12646216;12917689;12917691;14661020;14734113;15053880;15224091;15224092;15498874;15531880;15571818;15746103;15916963;16214042;16227581;16595681;16849449;16901786;16954532;16964248;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;18662542;19015242;19028597;19135894;19188362;19352404;19363159;19398555;19424180;19452197;19489725;19651622;19664994;19838211;19851334;19874575;19874889;19910467;19940261;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;2261476;22645359;23159851;23395819;23481700;23486064;23824326;23825189;24056413;24260525;24493797;24715725;24896179;25197364;25305019;25576301;25578727;25645385;25860612;25892735;26154972;26992070;27312109;27600516;27846572;27862975;27920218;28228285;28832583;28904123;29242379;29493099;29557506;29632711;29769354;29786170;30315122;30379171;30429286;30524438;30620550;31092671;31154438;31217245;31222486;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32897882;32938616;33141586;33168738;33298915;33392160;33592498;33633747;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34405274;34509645;34873064;35051231;35251023;35561310;35580925;36010968;36215666;36240223;36241641;36284347;36880841;37340703;38253038;40307207;7578059;9380723;9668046", "class_list": "glycogene", "function": "A short binding site in the KPC1 ubiquitin ligase mediates processing of NF-kappaB1 p105 to p50: A potential for a tumor-suppressive PROTAC., [RefSeq, PubMed]; Catalytic subunit of the KPC complex that acts as E3 ubiquitin-protein ligase (PubMed:15531880, PubMed:16227581, PubMed:25860612). Promotes the ubiquitination and proteasome-mediated degradation of CDKN1B which is the cyclin-dependent kinase inhibitor at the G0-G1 transition of the cell cycle (PubMed:15531880, PubMed:16227581). Also acts as a key regulator of the NF-kappa-B signaling by promoting maturation of the NFKB1 component of NF-kappa-B: acts by catalyzing ubiquitination of the NFKB1 p105 precursor, leading to limited proteasomal degradation of NFKB1 p105 and generation of the active NFKB1 p50 subunit (PubMed:25860612, PubMed:33168738, PubMed:34873064). Also functions as an inhibitor of innate antiviral signaling mediated by RIGI and IFIH1 independently of its E3 ligase activity (PubMed:27312109). Interacts with the N-terminal CARD domains of RIGI and IFIH1 and competes with the downstream adapter MAVS (PubMed:27312109)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Free p27 is recognized by the amino-terminal region of KPC1, which also associates with KPC2, and p27 is then polyubiquitylated by the carboxy-terminal RING-finger domain of KPC1., [RefSeq, PubMed]; KPC thus probably controls degradation of p27(Kip1) in G1 phase after export of the latter from the nucleus, [RefSeq, PubMed]; The Tumor Suppressor Functions of Ubiquitin Ligase KPC1: From Cell-Cycle Control to NF-kappaB Regulator. Review article, [RefSeq, PubMed]; The protein encoded by this gene contains a C-terminal RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions, and an N-terminal SPRY domain. This protein displays E3 ubiquitin ligase activity toward the cyclin-dependent kinase inhibitor 1B which is also known as p27 or KIP1. 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": 1, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1529, "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": "A1L4Q3;A6NLS5;Q5I022;Q6PFW4;Q71RH0;Q8IW18;Q9H0M8;Q9H5L8;Q9H9T2", "ec_number_list": "2.3.2.24;2.3.2.23;2.3.2.26;2.3.2.27;2.3.2.31;2.3.2.-;3.4.19.12;6.2.1.-;2.3.2.34;2.3.2.32;3.6.4.-;2.3.2.25;2.3.2.36;2.7.11.1", "go_molecular_function": "GO:0008270 zinc ion 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:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0051604 protein maturation;GO:0051603 proteolysis involved in protein catabolic process;GO:0019941 modification-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 17.4, "record_id": "Q5XPI4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H1A7-1", "uniprot_id": "RPB1C_HUMAN", "mass": 13074.0, "length": 115, "protein_name": "DNA-directed RNA polymerase II subunit RPB11-b2", "gene_name": "POLR2J3", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase II subunit RPB11-b2", "refseq_ac": "NP_001091084", "gene_names_uniprotkb": "POLR2J3", "gene_names_refseq": "POLR2J3; RPB11b2", "protein_names_uniprotkb": "DNA-directed RNA polymerase II subunit RPB11-b2; DNA-directed RNA polymerase II subunit J3; RNA polymerase II subunit B11-b2; RPB11b2", "protein_names_refseq": "DNA-directed RNA polymerase II subunit 11; DNA-directed RNA polymerase II subunit J3; DNA-directed RNA polymerase II subunit RPB11-b2; RNA polymerase II subunit B11-b2; polymerase (RNA) II (DNA directed) polypeptide J3; polymerase (RNA) II subunit J3", "tax_id": 9606, "disease": "", "pathway": " (hsa:548644)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;11747469", "class_list": "", "function": "DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB11 is part of the core element with the central large cleft (By similarity)., [UniProtKB]; This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [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": "A6NKA1", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0046983 protein dimerization activity;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0005665 RNA polymerase II, core complex;GO:0000428 DNA-directed RNA polymerase complex", "go_biological_process": "GO:0006366 transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9H1A7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NBI5-1", "uniprot_id": "S43A3_HUMAN", "mass": 54529.0, "length": 491, "protein_name": "Equilibrative nucleobase transporter 1", "gene_name": "SLC43A3", "organism": "Human", "refseq_name": "equilibrative nucleobase transporter 1 isoform 1", "refseq_ac": "NP_001265130", "gene_names_uniprotkb": "SLC43A3; ENBT1; PSEC0252", "gene_names_refseq": "EEG1; ENBT1; FOAP-13; PRO1659; SEEEG-1; SLC43A3", "protein_names_uniprotkb": "Equilibrative nucleobase transporter 1; Protein FOAP-13; Solute carrier family 43 member 3", "protein_names_refseq": "equilibrative nucleobase transporter 1 isoform 1; equilibrative nucleobase transporter 1; likely ortholog of mouse embryonic epithelial gene 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:29015)", "pathway_count": 1, "publication_count": 85, "publication_id_list": "11237011;16303743;18669648;20068231;20112406;22544926;23186163;23481700;24190977;24714562;24715725;25418920;25502872;25645385;25892735;26154972;26455426;26527604;26811146;26929215;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28467828;28514659;28649982;28832583;28904123;29242379;29314611;29351928;29393594;29437277;29557506;29632046;29632711;29769354;30315122;30484775;30573663;30910793;31092671;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32217606;32265295;32339528;32350084;32357974;32387766;32938616;32983136;33043033;33141586;33298915;33392160;33633747;33691108;33717175;33912179;33936100;33968037;34357683;34725712;34932366;35051231;35154160;35251023;35580925;35798387;36215666;36241641;36581221;37074911;39361655;39534244", "class_list": "", "function": "Functional Analysis of the Role of Equilibrative Nucleobase Transporter 1 (ENBT1/SLC43A3) in Adenine Transport in HepG2 Cells., [RefSeq, PubMed]; Functional comparison of human and murine equilibrative nucleobase transporter 1. Publication Status: Online-Only, [RefSeq, PubMed]; Impact of SLC43A3/ENBT1 Expression and Function on 6-Mercaptopurine Transport and Cytotoxicity in Human Acute Lymphoblastic Leukemia Cells., [RefSeq, PubMed]; SLC43A3 is an equilibrative nucleobase transporter involved in purine salvage in mammals. Erratum:[Sci Rep. 2016 Mar 04;6:22175. doi: 10.1038/srep22175. PMID: 26940463] Publication Status: Online-Only, [RefSeq, PubMed]; Slc43a3 is a regulator of free fatty acid flux., [RefSeq, PubMed]; Sodium-independent purine-selective nucleobase transporter which mediates the equilibrative transport of extracellular purine nucleobases such as adenine, guanine and hypoxanthine (PubMed:26455426, PubMed:32339528). May regulate fatty acid (FA) transport in adipocytes, acting as a positive regulator of FA efflux and as a negative regulator of FA uptake (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Transcriptome sequencing of patient-derived angiosarcoma cells, identified a novel fusion gene NUP160-SLC43A3 found to be expressed in 9 of 25 human angiosarcoma specimens that were examined., [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": 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": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B4DNR8;E7EQD2;Q9NSS4", "ec_number_list": "", "go_molecular_function": "GO:0015245 fatty acid transmembrane transporter activity;GO:0042910 xenobiotic transmembrane transporter activity;GO:0015207 adenine transmembrane transporter activity;GO:0015208 guanine transmembrane transporter activity", "go_cellular_component": "GO:0016323 basolateral plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0035344 hypoxanthine transport", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q8NBI5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NVC3-1", "uniprot_id": "S38A7_HUMAN", "mass": 49966.0, "length": 462, "protein_name": "Sodium-coupled neutral amino acid transporter 7", "gene_name": "SLC38A7", "organism": "Human", "refseq_name": "sodium-coupled neutral amino acid transporter 7 isoform 1", "refseq_ac": "NP_060701", "gene_names_uniprotkb": "SLC38A7; SNAT7", "gene_names_refseq": "SLC38A7; SNAT7", "protein_names_uniprotkb": "Sodium-coupled neutral amino acid transporter 7; Solute carrier family 38 member 7", "protein_names_refseq": "Sodium-coupled neutral amino acid transporter 7; amino acid transporter; putative sodium-coupled neutral amino acid transporter 7; sodium-coupled neutral amino acid transporter 7 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55238)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;20068231;23186163;23481700;25502872;25892735;26375851;28218747;28416685;28514659;28832583;28904123;29242379;29437277;29557506;29769354;29786170;30429286;30648747;31844290;32157095;32357974;32387766;32938616;33298915;33592498;33968037;34171866;34357683;34509645;35051231;35561222;35580925", "class_list": "", "function": "Cell fractionation confirmed the lysosomal localization of SNAT7, and flux measurements confirmed its substrate selectivity and showed a strong activation by the lysosomal pH gradient. Interestingly, gene silencing or editing experiments revealed that SNAT7 is the primary permeation pathway for glutamine across the lysosomal membrane and it is required for growth of cancer cells in a low free-glutamine environment., [RefSeq, PubMed]; GWAS identified a novel gene encoding an anastrozole transporter, SLC38A7, as well as epistatic interaction between SNPs in that gene and SNPs near ALPPL2 that influenced both the expression of the transporter and anastrozole plasma concentrations, [RefSeq, PubMed]; Identification of SLC38A7 as a Prognostic Marker and Potential Therapeutic Target of Lung Squamous Cell Carcinoma., [RefSeq, PubMed]; SNAT7 regulates mTORC1 via macropinocytosis., [RefSeq, PubMed]; Symporter that selectively cotransports sodium ions and amino acids, such as L-glutamine and L-asparagine from the lysosome into the cytoplasm and may participates in mTORC1 activation (PubMed:28416685, PubMed:35561222). The transport activity requires an acidic lysosomal lumen (PubMed:28416685)., [UniProtKB, PubMed, PubMed, 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q53GJ9;Q9H9I5", "ec_number_list": "", "go_molecular_function": "GO:0015186 L-glutamine transmembrane transporter activity;GO:0015182 L-asparagine transmembrane transporter activity;GO:0140901 L-asparagine:sodium symporter activity;GO:0140902 L-glutamine:sodium symporter activity", "go_cellular_component": "GO:0016020 membrane;GO:0030424 axon;GO:0043025 neuronal cell body;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0006868 glutamine transport;GO:0006814 sodium ion transport;GO:0003333 amino acid transmembrane transport;GO:0006867 asparagine transport;GO:0006865 amino acid transport", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9NVC3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PIS1-1", "uniprot_id": "S23A3_HUMAN", "mass": 64531.0, "length": 610, "protein_name": "Solute carrier family 23 member 3", "gene_name": "SLC23A3", "organism": "Human", "refseq_name": "solute carrier family 23 member 3 isoform 2", "refseq_ac": "NP_001138361", "gene_names_uniprotkb": "SLC23A3; E2BP3; SVCT3", "gene_names_refseq": "E2BP3; SLC23A3; SVCT3; Yspl1", "protein_names_uniprotkb": "Solute carrier family 23 member 3; HPC E2-binding protein 3; Na(+)/L-ascorbic acid transporter 3; Sodium-dependent vitamin C transporter 3", "protein_names_refseq": "E2-binding protein 3; HPC E2-binding protein 3; Na(+)/L-ascorbic acid transporter 3; sodium-dependent vitamin C transporter 3; solute carrier family 23 (nucleobase transporters), member 3; solute carrier family 23 member 3 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:151295)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;20546612;23481700;28218747;29557506;30113032;32350084;32387766;32938616;35051231;35094660", "class_list": "", "function": "Acts as a sodium-dependent hypoxanthine transporter (PubMed:35094660). May show xanthine-hypoxanthine exchange activity (PubMed:35094660)., [UniProtKB, PubMed]; In the course of differentiation, the most pronounced changes in the expression levels were observed for the mRNAs that encode SLC30A10 and SLC23A3 transporters. Their increase correlated with an increase in the apical membrane area, indicating that SLC30A10 and SLC23A3 mRNA levels assessed by qRT-PCR may be employed as cell differentiation biomarkers in Caco-2 models., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; SLC23A3 is a renal hypoxanthine transporter., [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": "B7Z512;Q2PYN6;Q96NA6", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0035344 hypoxanthine transport", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6PIS1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TF17-1", "uniprot_id": "S3TC2_HUMAN", "mass": 144777.0, "length": 1288, "protein_name": "SH3 domain and tetratricopeptide repeat-containing protein 2", "gene_name": "SH3TC2", "organism": "Human", "refseq_name": "SH3 domain and tetratricopeptide repeat-containing protein 2", "refseq_ac": "NP_078853", "gene_names_uniprotkb": "SH3TC2; KIAA1985; PP12494", "gene_names_refseq": "CMT4C; MNMN; SH3TC2", "protein_names_uniprotkb": "SH3 domain and tetratricopeptide repeat-containing protein 2", "protein_names_refseq": "SH3 domain and tetratricopeptide repeat-containing protein 2; SH3 domain and tetratricopeptide repeats-containing protein 2", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 4C (Disease Ontology:DOID:0110183); susceptibility to mononeuropathy of the median nerve, mild (MONDO:MONDO:0013237)", "pathway": " (hsa:79628)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;11716477;14574644;15498874;16924012;18691976;20028792;20220177;20826437;24715725;29393594;29557506;29789417;30192525;30779550;31154438;31217245;31324691;31530632;31634715;32387766;32938616;33587240;33968037;34193129;34509645;35051231;37372933;37929431", "class_list": "", "function": "Characterisation of Patients with SH3TC2 Associated Neuropathy in an Indian Cohort., [RefSeq, PubMed]; Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy. Publication Status: Online-Only, [RefSeq, PubMed]; Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants., [RefSeq, PubMed]; Is involved in nerve myelination and is required for the integrity of nodes of Ranvier (By similarity). It probably functions as a Rab effector in the regulation of endocytic recycling (PubMed:20028792, PubMed:20826437)., [UniProtKB, UniProtKB, PubMed, PubMed]; Mutations in an uncharacterized transcript, KIAA1985, in 12 families with autosomal recessive neuropathy, [RefSeq, PubMed]; Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients., [RefSeq, PubMed]; This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]., [RefSeq]; This paper presents an analysis of the SH3TC2 promoter after identifying a read-through transcript of the SH3TC2 and HTR4 loci. Available data suggests HTR4 is a separate locus with its own promoter, and not the product of a bi-cistronic transcript., [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": 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": "B3KWE5;Q14CC0;Q14CF5;Q9H8I5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0055037 recycling endosome", "go_biological_process": "GO:0033157 regulation of intracellular protein transport;GO:1901184 regulation of ERBB signaling pathway;GO:2001135 regulation of endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q8TF17-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P10155-1", "uniprot_id": "RO60_HUMAN", "mass": 60671.0, "length": 538, "protein_name": "RNA-binding protein RO60", "gene_name": "RO60", "organism": "Human", "refseq_name": "RNA-binding protein RO60 isoform 1", "refseq_ac": "NP_001035828", "gene_names_uniprotkb": "RO60; SSA2; TROVE2", "gene_names_refseq": "RO60; RORNP; SSA2; TROVE2", "protein_names_uniprotkb": "RNA-binding protein RO60; 60 kDa Ro protein; 60 kDa SS-A/Ro ribonucleoprotein; 60 kDa ribonucleoprotein Ro; Ro 60 kDa autoantigen; Ro60 autoantigen; RoRNP; SS-A; Sjoegren syndrome antigen A2; Sjoegren syndrome type A antigen; TROVE domain family member 2", "protein_names_refseq": "60 kDa ribonucleoprotein Ro; RNA-binding protein RO60 isoform 1; RNA-binding protein RO60; Ro/SSA 60kDa; Sjogren syndrome antigen A2 (60kD, ribonucleoprotein autoantigen SS-A/Ro); TROVE domain family member 2; gastric cancer multi-drug resistance protein; ro60 autoantigen; sjoegren syndrome type A antigen", "tax_id": 9606, "disease": "systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:6738)", "pathway_count": 1, "publication_count": 109, "publication_id_list": "10545525;10668799;11237011;11251884;12974767;1722217;17289661;17525332;17552056;18056422;18077418;18452278;18491316;18669648;18691976;19608861;20068231;22223895;22645359;23186163;23481700;24576620;24714562;25502872;25576301;25888644;25892735;26024233;26154972;26382853;2649513;26506479;26728094;26992070;27397612;27600516;27846572;27862975;28218747;28228285;28467828;28514659;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29557506;29632711;29930882;30254034;30315122;30410026;30429286;30573663;30779550;30833945;31154438;31222486;31530632;31844290;31848261;3200833;32157095;32350084;32357974;32387766;32469055;32488085;32852779;32938616;32983136;33123756;33141586;33214551;33392160;33592498;33633747;33717175;33912179;33968037;33981976;34019948;34171305;34357683;34433824;34932366;35051231;35138101;35154160;35251023;35318648;35561310;35580925;35606923;35909659;36010968;36241641;36284347;37938771;40596516;40914422;7532872;8817167;9328126;9433469", "class_list": "", "function": "IL-33/ST2 Activation Is involved in Ro60-Regulated Photosensitivity in Cutaneous Lupus Erythematosus. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a unique anti-Ro60 subset with restricted serological and molecular profiles., [RefSeq, PubMed]; Increased Ro/SSA 60 and La/SSB mRNA expression in minor salivary glands in primary Sjogren's syndrome (pSS) suggest that these 2 autoantigens, but not Ro/SSA 52, are involved in tissue-specific autoimmune response in pSS., [RefSeq, PubMed]; Noncoding Y RNAs regulate the levels, subcellular distribution and protein interactions of their Ro60 autoantigen partner., [RefSeq, PubMed]; RNA-binding protein that binds to misfolded non-coding RNAs, pre-5S rRNA, and several small cytoplasmic RNA molecules known as Y RNAs (PubMed:18056422, PubMed:26382853). Binds to endogenous Alu retroelements which are induced by type I interferon and stimulate porinflammatory cytokine secretion (PubMed:26382853). Regulates the expression of Alu retroelements as well as inflammatory genes (PubMed:26382853). May play roles in cilia formation and/or maintenance (By similarity)., [UniProtKB, 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": 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": 9, "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": "B2RBB9;Q5LJ98;Q5LJ99;Q5LJA0;Q86WL3;Q86WL4;Q92787;Q9H1W6", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0035457 cellular response to interferon-alpha;GO:0010468 regulation of gene expression;GO:0030030 cell projection organization;GO:0006383 transcription by RNA polymerase III", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "P10155-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H920-1", "uniprot_id": "RN121_HUMAN", "mass": 37882.0, "length": 327, "protein_name": "E3 ubiquitin ligase RNF121", "gene_name": "RNF121", "organism": "Human", "refseq_name": "E3 ubiquitin ligase RNF121 isoform a", "refseq_ac": "NP_060790", "gene_names_uniprotkb": "RNF121", "gene_names_refseq": "RNF121", "protein_names_uniprotkb": "E3 ubiquitin ligase RNF121; 2.3.2.27; RING finger protein 121", "protein_names_refseq": "E3 ubiquitin ligase RNF121 isoform a; E3 ubiquitin ligase RNF121", "tax_id": 9606, "disease": "", "pathway": " (hsa:55298)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;24928685;25388546;26602861;28228285;28514659;29632046;29769354;29955133;30149063;30315122;31844290;32387766;33141586;33633747;33968037;34433824", "class_list": "", "function": "E3 ubiquitin ligase which accepts ubiquitin and transfers it to substrates thereby promoting their degradation by the endoplasmic reticulum-associated degradation (ERAD) pathway which is a pathway involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (By similarity). May regulate the unfolded protein response to reduce endoplasmic reticulum stress (By similarity)., [UniProtKB, UniProtKB]; Over-expression of RNF121 promoted ubiquitination of VEGFR-2, inhibited its maturation . RNF121 knockdown in primary endothelial cells reduced VEGFR-2 ubiquitination and increased its cell surface level., [RefSeq, PubMed]; Study found that RNF121 was less expressed in tumor tissues than adjacent normal tissues of renal cell carcinoma (RCC) patients. Overexpression of RNF121 inhibited the growth of human RCC cells in vivo. Moreover, RNF121 impeded the proliferation, migration and invasion of human RCC cells in vitro. In addition, RNF121 was found to activate NF-kappaB signaling pathway via promoting IkappaBalpha degradation in RCC cells., [RefSeq, PubMed]; The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Several alternatively spliced transcript variants have been noted for this gene, however, not all are likely to encode viable protein products. [provided by RefSeq, Sep 2008]., [RefSeq]; These results unveil an unexpected role of Golgi Apparatus and reveal RNF121 as a new player involved in the signaling leading to NF-kappaB activation. Publication Status: Online-Only, [RefSeq, PubMed]; This is the first study to demonstrate that RNF121 is a novel regulator of apoptosis and provides a new potential target for cancer therapy, [RefSeq, PubMed]; We identified and characterised oncogenic fusion genes and their function in CRC, and implicated NAGLU-IKZF3 and RNF121-FOLR2 as novel molecular targets for personalised medicine 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": 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": "B3KSW8;Q6IA57;Q6P449;Q96DB4", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0036503 ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9H920-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P19388-1", "uniprot_id": "RPAB1_HUMAN", "mass": 24551.0, "length": 210, "protein_name": "DNA-directed RNA polymerases I, II, and III subunit RPABC1", "gene_name": "POLR2E", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "POLR2E", "gene_names_refseq": "", "protein_names_uniprotkb": "DNA-directed RNA polymerases I, II, and III subunit RPABC1; DNA-directed RNA polymerase II 23 kDa polypeptide; DNA-directed RNA polymerase II subunit E; RNA polymerases I, II, and III subunit ABC1; RPB5 homolog; XAP4", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:5434); (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-167238); (R-HSA-167242); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-168325); (R-HSA-1834949); (R-HSA-203927); (R-HSA-427413); (R-HSA-5250924); (R-HSA-5578749); (R-HSA-5601884); (R-HSA-5617472); (R-HSA-674695); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6796648); (R-HSA-6803529); (R-HSA-6807505); (R-HSA-72086); (R-HSA-72163); (R-HSA-72165); (R-HSA-72203); (R-HSA-73762); (R-HSA-73772); (R-HSA-73776); (R-HSA-73779); (R-HSA-73780); (R-HSA-73863); (R-HSA-73980); (R-HSA-749476); (R-HSA-75953); (R-HSA-75955); (R-HSA-76042); (R-HSA-76061); (R-HSA-76066); (R-HSA-76071); (R-HSA-77075); (R-HSA-8851708); (R-HSA-9018519); (R-HSA-9670095); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 56, "publication_count": 692, "publication_id_list": 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"class_list": "", "function": "DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2E/RPABC1 is part of the lower jaw surrounding the central large cleft and thought to grab the incoming DNA template., [UniProtKB, PubMed, 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": 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": "B2R6L4;D6W5Y1;O43380;Q6PIH5;Q9BT06", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005665 RNA polymerase II, core complex;GO:0005736 RNA polymerase I complex", "go_biological_process": "GO:0042797 tRNA transcription by RNA polymerase III;GO:0050821 protein stabilization;GO:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0006368 transcription elongation by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 69.5, "record_id": "P19388-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14593-1", "uniprot_id": "RFXK_HUMAN", "mass": 28102.0, "length": 260, "protein_name": "DNA-binding protein RFXANK", "gene_name": "RFXANK", "organism": "Human", "refseq_name": "DNA-binding protein RFXANK isoform c", "refseq_ac": "NP_001265656", "gene_names_uniprotkb": "RFXANK; ANKRA1; RFXB", "gene_names_refseq": "ANKRA1; BLS; F14150_1; MHC2D2; RFX-B; RFXANK", "protein_names_uniprotkb": "DNA-binding protein RFXANK; Ankyrin repeat family A protein 1; RFX-B; Regulatory factor X subunit B; Regulatory factor X-associated ankyrin-containing protein", "protein_names_refseq": "DNA-binding protein RFXANK isoform c; DNA-binding protein RFXANK; RFX-Bdelta4; ankyrin repeat family A protein 1; ankyrin repeat-containing regulatory factor X-associated protein; regulatory factor X subunit B", "tax_id": 9606, "disease": "severe combined immunodeficiency (Disease Ontology:DOID:627); MHC class II deficiency 2 (MONDO:MONDO:0971013)", "pathway": " (hsa:8625)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "10072068;10725724;11237011;20732328;22649097;24366607;24714562;24715725;25576301;25645385;25752541;26154972;26375851;27846572;27920218;28218747;28228285;28832583;28904123;29242379;29331515;29437277;30170160;30644704;31217245;31844290;31864703;32157095;32357974;32502341;32938616;32983136;33298915;33592498;33717175;33936100;33968037;34087483;35580925;36010968;37584719;9806546", "class_list": "", "function": "Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator/CIITA. May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters (PubMed:10072068, PubMed:10725724, PubMed:9806546). May also potentiate the activation of RAF1 (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population., [RefSeq, PubMed]; Isoform 2 is not involved in the positive regulation of MHC class II genes., [UniProtKB, PubMed]; Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]., [RefSeq]; Structural basis for the recognition of RFX7 by ANKRA2 and RFXANK., [RefSeq, PubMed]; This study reports an 8 month-old girl with MHC class II deficiency with a novel homozygous mutation in RFXANK gene and normal CD4+ T cell counts, diagnosed by whole exome sequencing and negative HLA-DR proteins on peripheral blood mononuclear cell in flow cytometry 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": 2, "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": "O95839;Q24JQ1;Q6FGA8", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0042826 histone deacetylase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045348 positive regulation of MHC class II biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "O14593-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y3T6-1", "uniprot_id": "R3HC1_HUMAN", "mass": 49092.0, "length": 440, "protein_name": "R3H and coiled-coil domain-containing protein 1", "gene_name": "R3HCC1", "organism": "Human", "refseq_name": "R3H and coiled-coil domain-containing protein 1 isoform a", "refseq_ac": "NP_001129580", "gene_names_uniprotkb": "R3HCC1", "gene_names_refseq": "R3HCC1", "protein_names_uniprotkb": "R3H and coiled-coil domain-containing protein 1", "protein_names_refseq": "R3H and coiled-coil domain-containing protein 1 isoform a; R3H and coiled-coil domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:203069)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;20691435;22927429;23186163;23301498;23481700;26375851;26992070;27600516;27846572;28832583;29508533;29786170;30315122;30833945;31848261;32488085;32502341;32983136;33592498;33717175;33981976;34087483;34171305;35051231;35580925;36308049", "class_list": "", "function": "Association between a single nucleotide polymorphism in the R3HCC1 gene and irinotecan toxicity., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Ribosome profiling indicates that this gene can use a non-AUG (CUG) start codon in both human HEK293 and mouse embryonic fibroblast 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": 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": "B7ZLI1", "ec_number_list": "", "go_molecular_function": "GO:0003676 nucleic acid binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9Y3T6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H0Z9-1", "uniprot_id": "RBM38_HUMAN", "mass": 25498.0, "length": 239, "protein_name": "RNA-binding protein 38", "gene_name": "RBM38", "organism": "Human", "refseq_name": "RNA-binding protein 38 isoform c", "refseq_ac": "NP_001278709", "gene_names_uniprotkb": "RBM38; RNPC1; SEB4", "gene_names_refseq": "HSRNASEB; RBM38; RNPC1; SEB4B; SEB4D; dJ800J21.2", "protein_names_uniprotkb": "RNA-binding protein 38; CLL-associated antigen KW-5; HSRNASEB; RNA-binding motif protein 38; RNA-binding region-containing protein 1; ssDNA-binding protein SEB4", "protein_names_refseq": "CLL-associated antigen KW-5; RNA-binding protein 38 isoform c; RNA-binding protein 38; RNA-binding region (RNP1, RRM) containing 1; RNA-binding region-containing protein 1; ssDNA-binding protein SEB4", "tax_id": 9606, "disease": "", "pathway": " (hsa:55544)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "11237011;12200376;17050675;19285943;19817877;23481700;24142875;24714562;24715725;25576301;25802875;25823026;25892735;26154972;26992070;27846572;27920218;28228285;28832583;28904123;29242379;29437973;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30524438;31154438;31217245;31844290;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33691108;33912179;33936100;34087483;34171305;34211107;34453780;34509645;34854353;34893109;34932366;35051231;35154160;35351042;35561310;35580925;36010968;36284347;37219768;38253038;40596516", "class_list": "", "function": "(Microbial infection) Essential factor for the splicing of the pre-mRNAs of human parvovirus B19 (B19V) and for the expression of B19V 11-kDa protein, which enhances viral replication., [UniProtKB, PubMed]; It was found that this protein Rbm38 regulates myogenic differentiation via the p21 signal pathway., [RefSeq, PubMed]; LncRNA CALML3-AS1 suppresses papillary thyroid cancer progression via sponging miR-20a-5p/RBM38 axis. Publication Status: Online-Only, [RefSeq, PubMed]; RNA binding Motif protein-38 regulates myocardial hypertrophy in LXR-alpha-dependent lipogenesis pathway., [RefSeq, PubMed]; RNA-binding protein RBM38 inhibits colorectal cancer progression by partly and competitively binding to PTEN 3'UTR with miR-92a-3p., [RefSeq, PubMed]; RNA-binding protein that specifically bind the 3'-UTR of CDKN1A transcripts, leading to maintain the stability of CDKN1A transcripts, thereby acting as a mediator of the p53/TP53 family to regulate CDKN1A. CDKN1A is a cyclin-dependent kinase inhibitor transcriptionally regulated by the p53/TP53 family to induce cell cycle arrest. Isoform 1, but not isoform 2, has the ability to induce cell cycle arrest in G1 and maintain the stability of CDKN1A transcripts induced by p53/TP53. Also acts as a mRNA splicing factor. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Plays a role in myogenic differentiation., [UniProtKB, PubMed, PubMed]; RNPC1a is required to maintain the stability of p21 transcript induced by p53., [RefSeq, PubMed]; TRIM17-mediated ubiquitination and degradation of RBM38 promotes cisplatin resistance in non-small cell lung cancer., [RefSeq, PubMed]; [RBM38 Mediates the Proliferation of Acute Myeloid Leukemia Cells HL-60 by Regulating FZD1 mRNA Stability]., [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": 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": "A6NDK1;A6NMU6;Q15350;Q15351;Q9BYK3;Q9BYK4", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0003730 mRNA 3'-UTR binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0010830 regulation of myotube differentiation;GO:0006397 mRNA processing;GO:0008285 negative regulation of cell population proliferation;GO:0030154 cell differentiation;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9H0Z9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P04844-1", "uniprot_id": "RPN2_HUMAN", "mass": 69284.0, "length": 631, "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2", "gene_name": "RPN2", "organism": "Human", "refseq_name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 isoform 2 precursor", "refseq_ac": "NP_001129243", "gene_names_uniprotkb": "RPN2", "gene_names_refseq": "RIBIIR; RPN-II; RPN2; RPNII; SWP1", "protein_names_uniprotkb": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2; Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 63 kDa subunit; RIBIIR; RPN-II; Ribophorin II; Ribophorin-2", "protein_names_refseq": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase 63 kDa subunit; dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 isoform 2 precursor; dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2; oligosaccharyltransferase complex subunit (non-catalytic); ribophorin-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:6185); (R-HSA-1799339); (R-HSA-446203); (R-HSA-9694548); (R-HSA-9768727); (R-HSA-9918432); (R-HSA-9931295)", "pathway_count": 7, "publication_count": 202, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10228156;11237011;11470266;11964406;12089159;12171918;12665801;12678917;12853463;12893276;14514716;14688233;16317064;16469117;17261850;18166647;18455985;18491227;19159218;19835842;20068231;20444697;20798515;21209280;22375065;22424782;22617051;22645359;22722860;22869377;22898188;22915798;23481700;23606741;24112972;24190977;24366607;24681004;24714562;24715725;24966173;25135935;25418920;25576301;25645385;25802875;25810538;25813380;25880248;25892735;26154972;26208004;26375851;26416966;26728094;26768311;26811146;26929215;26992070;27255086;27383988;27397612;27452731;27543614;27572267;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28228593;2834401;28467828;28510447;28512129;28832583;28834231;28855257;28904123;29242379;29290612;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29741879;29765039;29769354;29786170;29789417;30118680;30315122;3034581;30397120;30410026;30429286;30484775;30524438;30573663;30779550;30833945;31020640;31092671;31154438;31217245;31222486;31305264;31530632;31611695;31831667;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32363391;32366695;32387766;32488085;32502341;32518941;32676595;32897882;32938616;32983136;33043033;33123756;33141586;33298915;33310888;33392160;33465208;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34093574;34117209;34171305;34185709;34211107;34357683;34405274;34428449;34509645;34528721;34561969;34599882;34725712;34846842;34932366;34961524;35051231;35154160;35156537;35215835;35251023;35318648;35561310;35580925;36010968;36168628;36215666;36241641;36284347;36621657;36697828;36719382;37217939;37938771;38253038;38665916;38670073;38793607;39534244;40307207;40596516;6156677;7072193;7982500;7986008;9631292", "class_list": "glycogene", "function": "RPN2 in cancer: An overview. Review article, [RefSeq, PubMed]; Ribophorin II promotes the epithelial-mesenchymal transition and aerobic glycolysis of laryngeal squamous cell carcinoma via regulating reactive oxygen species-mediated Phosphatidylinositol-3-Kinase/Protein Kinase B activation., [RefSeq, PubMed]; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation (PubMed:31831667). N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The N(6)-methyladenosine-mediated lncRNA WEE2-AS1 promotes glioblastoma progression by stabilizing RPN2. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein is similar in sequence to the yeast oligosaccharyl transferase subunit SWP1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [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": 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": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 728, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 19, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q5JYR6;Q6IBA5;Q96E21;Q9BUQ3;Q9UBE1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0008250 oligosaccharyltransferase complex;GO:0160226 oligosaccharyltransferase complex A", "go_biological_process": "GO:0036211 protein modification process;GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 0, "hit_score": 23.1, "record_id": "P04844-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H7B2-1", "uniprot_id": "RPF2_HUMAN", "mass": 35583.0, "length": 306, "protein_name": "Ribosome production factor 2 homolog", "gene_name": "RPF2", "organism": "Human", "refseq_name": "ribosome production factor 2 homolog isoform 1", "refseq_ac": "NP_115570", "gene_names_uniprotkb": "RPF2; BXDC1", "gene_names_refseq": "BXDC1; RPF2; bA397G5.4", "protein_names_uniprotkb": "Ribosome production factor 2 homolog; Brix domain-containing protein 1; Ribosome biogenesis protein RPF2 homolog", "protein_names_refseq": "brix domain containing 1; brix domain-containing protein 1; homolog of Rpf2; ribosomal processing factor 2 homolog; ribosome biogenesis protein RPF2 homolog; ribosome production factor 2 homolog isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84154)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "11237011;12429849;19170763;22121020;23481700;24120868;25418920;25576301;26154972;26811146;26992070;27397612;27846572;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29557506;29632046;29786170;30315122;30429286;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32938616;33123756;33141586;33214551;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34087483;34229054;34561969;34932366;35051231;35083852;35138101;35580925;36010968;37291423;37938771;38307254;40914422", "class_list": "", "function": "BXDC1 and EBNA1BP2 function in a dynamic scaffold for ribosome biogenesis., [RefSeq, PubMed]; Clinical significance of ribosome production factor 2 homolog in hepatocellular carcinoma., [RefSeq, PubMed]; Involved in ribosomal large subunit assembly. May regulate the localization of the 5S RNP/5S ribonucleoprotein particle to the nucleolus., [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": 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": "Q5VXN1;Q8N4A1", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0019843 rRNA binding;GO:0008097 5S rRNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005694 chromosome", "go_biological_process": "GO:1902570 protein localization to nucleolus;GO:0042273 ribosomal large subunit biogenesis;GO:1901796 regulation of signal transduction by p53 class mediator;GO:0000027 ribosomal large subunit assembly;GO:0000463 maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9H7B2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00411-1", "uniprot_id": "RPOM_HUMAN", "mass": 138620.0, "length": 1230, "protein_name": "DNA-directed RNA polymerase, mitochondrial", "gene_name": "POLRMT", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase, mitochondrial isoform 5 precursor", "refseq_ac": "NP_005026", "gene_names_uniprotkb": "POLRMT", "gene_names_refseq": "APOLMT; COXPD55; MTRNAP; MTRPOL; POLRMT; h-mtRPOL", "protein_names_uniprotkb": "DNA-directed RNA polymerase, mitochondrial; 2.7.7.6; MtRPOL", "protein_names_refseq": "DNA-directed RNA polymerase, mitochondrial isoform 5 precursor; polymerase (RNA) mitochondrial (DNA directed)", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 55 (Disease Ontology:DOID:0070428)", "pathway": " (hsa:5442); (R-HSA-163282); (R-HSA-2151201); (R-HSA-9913635)", "pathway_count": 4, "publication_count": 129, "publication_id_list": "10412986;10497183;10608893;10643692;10677218;10713165;11237011;11340167;11809803;12068295;12374852;12563009;12745923;15167897;15258572;15526033;15684387;16079181;16079853;16788062;16890199;16908542;16911507;17031457;17437997;17715127;17923681;18187503;18215119;18343819;18680753;18685103;19001277;19007248;19356719;19417006;19691289;19837034;19951946;20445207;21278163;21953457;22383523;23283301;23481700;24715725;25418920;25576301;25635099;25892735;26154972;26253742;26992070;27220468;27226550;27600516;27920218;28063628;28228285;28649982;28832583;28834231;28904123;29149603;29242379;29290614;29331515;29393594;29445193;29493099;29508533;29557506;29632046;29769354;30102370;30247721;30256971;30410026;30605451;30949702;31217245;31226201;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32938616;32983136;33091337;33141586;33298915;33392160;33592498;33602924;33847964;33936100;33968037;33981976;34171305;34211107;34357683;34405274;34509645;34561969;34744028;35051231;35318648;35580925;35819194;3594571;35947649;36010968;36241641;36528058;36744436;37013609;37592734;37938771;38649537;7629110;7799916;8108407;8333869;9097968;9178750;9286700", "class_list": "", "function": "DNA-dependent RNA polymerase catalyzes the transcription of mitochondrial DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:21278163, PubMed:33602924). Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA (PubMed:29149603). In this complex, TFAM recruits POLRMT to a specific promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand (PubMed:29149603). Has DNA primase activity (PubMed:18685103, PubMed:33602924). Catalyzes the synthesis of short RNA primers that are necessary for the initiation of lagging-strand DNA synthesis from the origin of light-strand DNA replication (OriL) (PubMed:18685103, PubMed:33602924)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Human mitochondrial DNA polymerase has a role in autosomal dominant progressive external ophthalmoplegia, [RefSeq, PubMed]; SUCLG1 restricts POLRMT succinylation to enhance mitochondrial biogenesis and leukemia progression., [RefSeq, PubMed]; TFB2M and POLRMT are essential for mammalian mitochondrial DNA replication., [RefSeq, PubMed]; This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [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": 11, "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": "O60370", "ec_number_list": "2.7.7.6;3.1.13.-;2.7.7.48;2.7.7.7;3.1.11.-;4.2.99.-;5.6.2.3;2.1.1.-", "go_molecular_function": "GO:0001018 mitochondrial promoter sequence-specific DNA binding;GO:0003723 RNA binding;GO:0043565 sequence-specific DNA binding;GO:0000175 3'-5'-RNA exonuclease activity;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0034245 mitochondrial DNA-directed RNA polymerase complex;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0042645 mitochondrial nucleoid;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006391 transcription initiation at mitochondrial promoter;GO:0006264 mitochondrial DNA replication;GO:0006390 mitochondrial transcription;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "O00411-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08134-1", "uniprot_id": "RHOC_HUMAN", "mass": 22006.0, "length": 193, "protein_name": "Rho-related GTP-binding protein RhoC", "gene_name": "RHOC", "organism": "Human", "refseq_name": "rho-related GTP-binding protein RhoC precursor", "refseq_ac": "NP_001036143", "gene_names_uniprotkb": "RHOC; ARH9; ARHC", "gene_names_refseq": "ARH9; ARHC; H9; RHOC; RHOH9", "protein_names_uniprotkb": "Rho-related GTP-binding protein RhoC; 3.6.5.2; Rho cDNA clone 9; h9", "protein_names_refseq": "RAS-related homolog 9; Rho-related GTP-binding protein RhoC; epididymis secretory sperm binding protein; oncogene RHO H9; ras homolog gene family, member C; rho cDNA clone 9; rho-related GTP-binding protein RhoC precursor; rhoC GTPase; small GTP binding protein RhoC", "tax_id": 9606, "disease": "peroxisomal biogenesis disorder (Disease Ontology:DOID:0080377); neurodegenerative disease (Disease Ontology:DOID:1289); breast cancer (Disease Ontology:DOID:1612); ovarian carcinoma (Disease Ontology:DOID:4001); ulcerative colitis (Disease Ontology:DOID:8577)", "pathway": " (hsa:389); (R-HSA-416482); (R-HSA-416572); (R-HSA-5625740); (R-HSA-5625900); (R-HSA-5627117); (R-HSA-5663220); (R-HSA-5666185); (R-HSA-9013106)", "pathway_count": 9, "publication_count": 194, "publication_id_list": "10330186;10591629;10600384;10619026;10652353;10678165;10753910;10873388;10924361;10940294;10958683;11018042;11134534;11207612;11237011;11283606;11294240;11313914;11313932;11331307;11546812;11742120;11942626;12101119;12123608;12185584;12196628;12220504;12221077;12221096;12429848;12433842;12473120;12515866;12577064;12730235;12732141;12783890;12802051;12805219;14514689;15003508;15006353;15085137;15107133;15184667;15210733;15507212;15699075;15749160;15767687;15791647;15864301;15866170;15944396;15951850;16112081;16202622;16212495;16219803;16236794;16292343;16431929;16439214;16622419;16622420;16776779;16777452;16896804;16923326;16943183;16979770;17030981;17077126;17129783;17151359;17198702;17301291;1737036;17497936;17765681;17932950;18001770;18006505;18025083;18097444;18218625;18374420;18577758;18923426;19212140;19350017;19713215;19723632;19815554;20030946;20101212;20400958;20591975;20974804;21148482;21351730;21397845;21454492;21576392;21749319;21757538;21868368;22094460;22275430;22293177;22608513;22645359;22661716;22673745;22790947;22911862;22992742;23200924;23222643;23255595;23444367;23716662;23801653;24128008;24141704;24715725;24905543;24914801;25414122;25425145;25576301;27072905;27481945;27807006;27846572;27920218;28649982;28904123;29279389;29557506;2966156;30007591;30379171;30410026;30429286;31154438;31844290;31848261;31871319;32157095;32350084;32387766;32488085;3283705;32938616;33043033;33184050;33214551;33592498;33633747;33968037;34357683;34932366;35051231;35154160;35580925;36215666;36284347;36469134;36473367;36576072;3839510;7721814;7937899;8543060;8571126;8617235;8662509;8662891;8702756;8807639;8816443;8939998;9278512;9308960;9354661;9649308;9792683;9796816;9870942;9870943;9889122;9988689", "class_list": "", "function": "LncRNA ZFAS1 contributes to osteosarcoma progression via miR-520b and miR-520e-mediated inhibition of RHOC signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers. Serves as a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Regulates apical junction formation in bronchial epithelial cells., [UniProtKB, PubMed, PubMed]; RhoC in association with TET2/WDR5 regulates cancer stem cells by epigenetically modifying the expression of pluripotency genes. Publication Status: Online-Only, [RefSeq, PubMed]; Silencing of RhoC induces macrophage M1 polarization to inhibit migration and invasion in colon cancer via regulating the PTEN/FOXO1 pathway., [RefSeq, PubMed]; This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The protein encoded by this gene is prenylated at its C-terminus, and localizes to the cytoplasm and plasma membrane. It is thought to be important in cell locomotion. Overexpression of this gene is associated with tumor cell proliferation and metastasis. Multiple alternatively spliced 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": 2, "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": 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": 3, "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": "B3KSW1;Q6ICN3", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;2.7.11.1;2.7.11.39;3.6.1.5;2.7.10.1;3.1.2.-;7.6.2.-;3.6.1.-;3.6.4.-;3.6.5.4;3.1.3.53;3.1.3.16;1.3.1.70;2.7.11.13;3.6.-.-;3.6.1.15;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0043297 apical junction assembly;GO:0007015 actin filament organization;GO:0007165 signal transduction;GO:0016477 cell migration;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 19.9, "record_id": "P08134-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BWQ6-1", "uniprot_id": "YIPF2_HUMAN", "mass": 35151.0, "length": 316, "protein_name": "Protein YIPF2", "gene_name": "YIPF2", "organism": "Human", "refseq_name": "protein YIPF2 isoform 1", "refseq_ac": "NP_001308368", "gene_names_uniprotkb": "YIPF2", "gene_names_refseq": "FinGER2; YIPF2; YIPFbeta3B; Yip5C", "protein_names_uniprotkb": "Protein YIPF2; YIP1 family member 2", "protein_names_refseq": "YIP1 family member 2; protein YIPF2 isoform 1; protein YIPF2", "tax_id": 9606, "disease": "", "pathway": " (hsa:78992)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;24366607;25502872;25576301;26154972;26375851;27846572;27920218;27999994;28286305;28832583;28904123;29242379;29393594;29508533;29786170;31189879;31611695;31844290;32303681;32350084;32357974;32488085;32502341;32938616;32983136;33298915;33592498;33936100;33968037;34357683;34433824;35251023;35580925;36284347", "class_list": "", "function": "YIPF2 is a new trafficking determinant essential for CD147 glycosylation and transport. YIPF2-controlled ER-Golgi trafficking signature promotes CD147-medated malignant phenotypes in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; YIPF2 promotes chemotherapeutic agent-mediated apoptosis via enhancing TNFRSF10B recycling to plasma membrane in non-small cell lung 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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:0031267 small GTPase binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0031902 late endosome membrane;GO:0030133 transport vesicle;GO:0005797 Golgi medial cisterna;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9BWQ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92503-1", "uniprot_id": "S14L1_HUMAN", "mass": 81250.0, "length": 715, "protein_name": "SEC14-like protein 1", "gene_name": "SEC14L1", "organism": "Human", "refseq_name": "SEC14-like protein 1 isoform b", "refseq_ac": "NP_001034662", "gene_names_uniprotkb": "SEC14L1; SEC14L", "gene_names_refseq": "PRELID4A; SEC14L1; SEC14L", "protein_names_uniprotkb": "SEC14-like protein 1", "protein_names_refseq": "SEC14-like protein 1 isoform b; SEC14-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:6397)", "pathway_count": 1, "publication_count": 88, "publication_id_list": "11237011;17074750;17092608;18691976;19413330;20068231;22424782;22544926;23186163;23481700;23843640;24275569;24366607;24397554;24715725;25418920;25576301;25645385;25701228;25880248;26154972;26375851;26811146;26992070;27846572;27855158;27862975;28904123;29437277;29493099;29557506;29955149;30315122;30410026;30429286;30484775;30779550;31092671;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34932366;35051231;35283446;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;8697811", "class_list": "", "function": "A markedly different role of SEC14L1 in TMPSSR2:ERG-negative and TMPSSR2:ERG-positive prostate cancers, [RefSeq, PubMed]; Evaluation of Saccharomyces cerevisiae -like 1 (SEC14L1) in Gynecologic Malignancies Shows Overexpression in Endometrial Serous Carcinoma., [RefSeq, PubMed]; May play a role in innate immunity by inhibiting the antiviral RIG-I signaling pathway. In this pathway, functions as a negative regulator of RIGI, the cytoplasmic sensor of viral nucleic acids. Prevents the interaction of RIGI with MAVS/IPS1, an important step in signal propagation (PubMed:23843640). May also regulate the SLC18A3 and SLC5A7 cholinergic transporters (PubMed:17092608)., [UniProtKB, PubMed, PubMed]; Our findings specify SEC14L1 as an independent prognostic factor in breast cancer., [RefSeq, PubMed]; The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been found for this gene; some variants represent read-through transcripts that include exons from the upstream gene C17orf86. [provided by RefSeq, Feb 2011]., [RefSeq]; We present genetic evidence that NGx04 inhibits fungal Sec14p and initial data supporting NGx04 as a novel antifungal starting point. 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": 4, "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": "A8K4E8;B4DDI5;D5G3K1;Q99780", "ec_number_list": "", "go_molecular_function": "GO:0039552 RIG-I binding;GO:0140311 protein sequestering activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "GO:0045087 innate immune response;GO:0015871 choline transport;GO:0039536 negative regulation of RIG-I signaling pathway;GO:0039532 negative regulation of cytoplasmic pattern recognition receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q92503-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86VL8-1", "uniprot_id": "S47A2_HUMAN", "mass": 65085.0, "length": 602, "protein_name": "Multidrug and toxin extrusion protein 2", "gene_name": "SLC47A2", "organism": "Human", "refseq_name": "multidrug and toxin extrusion protein 2 isoform 2", "refseq_ac": "NP_001093116", "gene_names_uniprotkb": "SLC47A2; MATE2", "gene_names_refseq": "MATE2-B; MATE2-K; MATE2K; MATE2; SLC47A2", "protein_names_uniprotkb": "Multidrug and toxin extrusion protein 2; Kidney-specific H(+)/organic cation antiporter; MATE-2; Solute carrier family 47 member 2; hMATE-2", "protein_names_refseq": "kidney-specific H(+)/organic cation antiporter; multidrug and toxin extrusion protein 2 isoform 2; multidrug and toxin extrusion protein 2; solute carrier family 47 (multidrug and toxin extrusion), member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:146802); (R-HSA-549127)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10072434;10196521;10966924;11237011;12089149;12372408;12384147;14608356;14674884;15107849;15184985;15795384;16330770;16788146;16807400;16914559;17509534;19158817;20058876;21419862;25418920;26522469;28131833;28218747;28904123;29242379;29437277;29557506;30429286;30433870;30951404;31844290;32387766;32502341;32708212;33392160;34383246;35051231;35580925;7989337;8647271;9260930;9520460;9655880;9685390;9744804", "class_list": "", "function": "HMATE1 and hMATE2-K function together as a detoxication system, by mediating the tubular secretion of intracellular ionic compounds across the brush-border membranes of the kidney., [RefSeq, PubMed]; Multidrug efflux pump that functions as a H(+)/organic cation antiporter. Mediates the efflux of cationic compounds, such as the model cations, tetraethylammonium (TEA) and 1-methyl-4-phenylpyridinium (MPP+), the platinum-based drug oxaliplatin or weak bases that are positively charged at physiological pH, cimetidine, the platinum-based drugs cisplatin and oxaliplatin or the antidiabetic drug metformin. Mediates the efflux of endogenous compounds such as, creatinine, thiamine and estrone-3-sulfate. Plays a physiological role in the excretion of drugs, toxins and endogenous metabolites through the kidney., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Network and cell biological analysis additionally showed that expression of MATE2-K is regulated by Nrf2 signaling, [RefSeq, PubMed]; Non-functional protein., [UniProtKB, PubMed]; Population diversity of three variants of the SLC47A2 gene (MATE2-K transporter) in Mexican Mestizos and Native Americans., [RefSeq, PubMed]; Rapid Regulation of Human Multidrug and Extrusion Transporters hMATE1 and hMATE2K. Publication Status: Online-Only, [RefSeq, PubMed]; The SLC47A2 locus highly expresses SANT1, which can remove the regulatory SFPQ/E2F1/HDAC1 suppressor complex from the promoter region., [RefSeq, PubMed]; The studied SLC47A1 and SLC47A2 SNPs had no influence on the dose requirement or adverse effects of metformin., [RefSeq, PubMed]; These findings suggested that the loss of transport activities of the MATE1 G64D and MATE2-K G211V variants were due to the alteration of protein expression in cell surface membranes., [RefSeq, PubMed]; This gene encodes a protein belonging to a family of transporters involved in excretion of toxic electrolytes, both endogenous and exogenous, through urine and bile. This transporter family shares homology with the bacterial MATE (multidrug and toxin extrusion) protein family responsible for drug resistance. This gene is one of two members of the MATE transporter family located near each other on chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been identified 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": 1, "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": "A0JBX9;A0P8Z7;Q63HJ9;Q8IV44;Q96NA1", "ec_number_list": "", "go_molecular_function": "GO:0042910 xenobiotic transmembrane transporter activity;GO:0022857 transmembrane transporter activity;GO:0015297 antiporter activity;GO:0140968 polyspecific organic cation:proton antiporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0015695 organic cation transport;GO:0015837 amine transport;GO:1990961 xenobiotic detoxification by transmembrane export across the plasma membrane", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q86VL8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HCJ3-1", "uniprot_id": "RAVR2_HUMAN", "mass": 74339.0, "length": 691, "protein_name": "Ribonucleoprotein PTB-binding 2", "gene_name": "RAVER2", "organism": "Human", "refseq_name": "ribonucleoprotein PTB-binding 2 isoform 2", "refseq_ac": "NP_060681", "gene_names_uniprotkb": "RAVER2; KIAA1579", "gene_names_refseq": "RAVER2", "protein_names_uniprotkb": "Ribonucleoprotein PTB-binding 2; Protein raver-2", "protein_names_refseq": "protein raver-2; ribonucleoprotein PTB-binding 2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55225)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "10.1101/2023.09.13.557529;11237011;20237496;22146317;22561236;24715725;25576301;25637521;26992070;27600516;27862975;28834231;28904123;29557506;29789417;30429286;32157095;32488085;32502341;32897882;32938616;33298915;33691108;33968037;33981976;34087483;34171305;34357683;35051231;35580925;36010968;36241641;37938771", "class_list": "", "function": "Deregulation of LMNB1 expression induces modified splicing of several genes, likely driven by raver-2 overexpression, and suggest that an alteration of mRNA processing could be a pathogenic mechanism in adult-onset autosomal dominant leukodystrophy. Erratum:[Hum Mol Genet. 2017 Oct 1;26(19):3868. doi: 10.1093/hmg/ddx225. PMID: 28934398], [RefSeq, PubMed]; Genetic polymorphism is ssociated with increased susceptibility for ulcerative colitis, [RefSeq, PubMed]; May bind single-stranded nucleic acids., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Together, our results suggest that regulation of human Raver2 expression involves TATA-less transcriptional 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": 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": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6P141;Q9NPV7", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9HCJ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y644-1", "uniprot_id": "RFNG_HUMAN", "mass": 36424.0, "length": 331, "protein_name": "Beta-1,3-N-acetylglucosaminyltransferase radical fringe", "gene_name": "RFNG", "organism": "Human", "refseq_name": "beta-1,3-N-acetylglucosaminyltransferase radical fringe", "refseq_ac": "NP_002908", "gene_names_uniprotkb": "RFNG", "gene_names_refseq": "RFNG", "protein_names_uniprotkb": "Beta-1,3-N-acetylglucosaminyltransferase radical fringe; 2.4.1.222; O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase", "protein_names_refseq": "O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase; beta-1,3-N-acetylglucosaminyltransferase radical fringe; radical fringe homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:5986); (R-HSA-1912420)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "10.1101/2023.09.13.557529;10075724;10341080;10366590;10459009;10545110;10669757;10935626;10935637;11135303;11237011;11530204;11707585;12049766;1295745;1764995;19701457;20170518;20197277;21097675;23090970;23481700;24190977;24715725;25892735;26992070;27600516;27846572;28228285;28834231;29242379;30315122;30459171;31844290;32350084;32387766;32938616;33141586;33537174;33981976;35051231;35251023;7918097;8293978;8681805;9187150;9207795;9244302;9653148;9727485", "class_list": "glycogene;glycosyltransferase", "function": "Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in enhancement of NOTCH1 activation by DLL1 and JAG1. May be involved in limb formation and in neurogenesis., [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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 482, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O00588", "ec_number_list": "2.4.1.222", "go_molecular_function": "GO:0046872 metal ion binding;GO:0033829 O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity;GO:0016757 glycosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0009887 animal organ morphogenesis;GO:0007389 pattern specification process;GO:0008593 regulation of Notch signaling pathway", "synthesized_glycan_count": 19, "hit_score": 5.5, "record_id": "Q9Y644-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q02878-1", "uniprot_id": "RL6_HUMAN", "mass": 32728.0, "length": 288, "protein_name": "Large ribosomal subunit protein eL6", "gene_name": "RPL6", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL6 isoform 1", "refseq_ac": "NP_000961", "gene_names_uniprotkb": "RPL6; TXREB1", "gene_names_refseq": "L6; RPL6; SHUJUN-2; TAXREB107; TXREB1; eL6", "protein_names_uniprotkb": "Large ribosomal subunit protein eL6; 60S ribosomal protein L6; Neoplasm-related protein C140; Tax-responsive enhancer element-binding protein 107; TaxREB107", "protein_names_refseq": "60S ribosomal protein L6; DNA-binding protein TAXREB107; large ribosomal subunit protein eL6 isoform 1; large ribosomal subunit protein eL6; neoplasm-related protein C140; tax-responsive enhancer element-binding protein 107", "tax_id": 9606, "disease": "", "pathway": " (hsa:6128); (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": 281, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11043511;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11823430;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;16601204;16622410;16630668;16738141;16959974;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;17924679;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18974281;18991276;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;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;22072790;22121020;22190735;22195017;22424782;22544926;22617051;22916032;23085078;23217742;23234702;23269699;23439679;23482395;23636399;23685075;23746841;2388630;24366607;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25525153;25576301;25578875;25802875;25810538;25901680;25957688;25969445;26154972;26237581;26811146;26992070;27526673;27846572;27920218;28063628;28065601;28132843;28467828;28510447;28685749;28904123;29393594;29413899;29437277;29493099;29557506;29632046;29632312;30244831;30293783;30315122;30379171;30410026;30429286;30444036;30484775;30712990;30804176;30833945;31011209;31020640;31092671;31154438;31217245;31222486;31530632;31611695;31717259;31844290;31848261;31998317;32099016;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32579943;32669547;32897882;32938616;32983136;33091337;33141586;33214551;33298915;33392160;33406423;33592498;33633747;33691108;33717175;33909987;33912179;33936100;33968037;34019948;34087483;34171305;34185709;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35526384;35561310;35580925;36010968;36215666;36241641;36284347;36302773;37217939;37676773;37938771;38665916;40914422;429297;592398;592399;641056;6568109;6901506;7990965;8185817;8336711;8407925;8457378;8479925;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "(Microbial infection) Specifically binds to domain C of the Tax-responsive enhancer element in the long terminal repeat of HTLV-I (PubMed:8457378)., [UniProtKB, PubMed]; 60S ribosomal proteins L6 (RPL6) and RPL28, which are adjacent on the ribosome, play opposite roles in generating an influenza A virus-encoded peptide. Depleting RPL6 decreases ubiquitin-dependent peptide presentation, whereas depleting RPL28 increases ubiquitin-dependent and -independent peptide presentation., [RefSeq, PubMed]; Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547)., [UniProtKB, PubMed, PubMed, 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., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein component of the 60S ribosomal subunit. This protein can bind specifically to domain C of the tax-responsive enhancer element of human T-cell leukemia virus type 1, and may participate in tax-mediated transactivation of transcription. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 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": 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": 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": "Q2M3Q3;Q8WW97", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0045296 cadherin binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005791 rough endoplasmic reticulum;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006355 regulation of DNA-templated transcription;GO:0006412 translation;GO:0006941 striated muscle contraction", "synthesized_glycan_count": 0, "hit_score": 28.4, "record_id": "Q02878-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TC12-1", "uniprot_id": "RDH11_HUMAN", "mass": 35386.0, "length": 318, "protein_name": "Retinol dehydrogenase 11", "gene_name": "RDH11", "organism": "Human", "refseq_name": "retinol dehydrogenase 11 isoform 2", "refseq_ac": "NP_001239579", "gene_names_uniprotkb": "RDH11; ARSDR1; CGI-82; PSDR1; SDR7C1", "gene_names_refseq": "ARSDR1; CGI82; HCBP12; MDT1; PSDR1; RALR1; RDH11; RDJCSS; SCALD; SDR7C1", "protein_names_uniprotkb": "Retinol dehydrogenase 11; 1.1.1.300; Androgen-regulated short-chain dehydrogenase/reductase 1; HCV core-binding protein HCBP12; Prostate short-chain dehydrogenase/reductase 1; RalR1; Retinal reductase 1; Short chain dehydrogenase/reductase family 7C member 1", "protein_names_refseq": "HCV core-binding protein HCBP12; androgen-regulated short-chain dehydrogenase/reductase 1; prostate short-chain dehydrogenase reductase 1; retinal reductase 1; retinol dehydrogenase 11 (all-trans/9-cis/11-cis); retinol dehydrogenase 11 isoform 2; short chain dehydrogenase/reductase family 7C, member 1", "tax_id": 9606, "disease": "Leber congenital amaurosis (Disease Ontology:DOID:14791); retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (MONDO:MONDO:0014495)", "pathway": " (hsa:51109); (R-HSA-2453902); (R-HSA-5365859); (R-HSA-975634)", "pathway_count": 4, "publication_count": 156, "publication_id_list": "10.1101/2023.09.13.557529;10052934;10075733;10329026;10369264;10617778;10753906;10769148;10839978;11007799;11060341;11123914;11181758;11237011;11245473;11274389;12036956;12177057;12226107;12407145;12532453;12680773;1279089;14532297;14596915;15314061;15358783;1542003;15471866;15583000;15865448;16200213;16303743;16939223;17255476;17286855;17525477;17644776;18039331;18087047;18295589;18460466;18507396;1856611;18805086;1889753;19014918;19049981;19139408;1925597;19309693;19562805;19608861;20068231;20192770;20801113;21106934;21493626;21529158;21621639;21774515;21851338;22019272;22665496;2303470;23220587;23481700;24106281;24190977;24366607;24916380;2542268;25576301;25829192;25892735;26154972;26375851;26992070;27090790;27846572;27862975;27920218;2793848;28218747;28446606;28832583;28834231;28904123;29242379;2935875;29410696;29437277;29493099;29557506;29632046;29769354;29786170;3013304;30315122;30410026;31154438;31530632;3170584;31844290;32157095;32161166;32350084;32357974;32387766;32938616;32983136;33298915;33592498;33691108;33912179;33968037;34019948;34171305;34357683;34405274;34433824;35051231;35251023;35561310;36010968;3714052;38665916;3942763;4345202;5057882;5315589;5675424;6288450;6342691;6420172;6512705;6589631;6679757;6961410;7683668;7929238;8017323;8105993;8384721;8493914;8728311;8884265;9228021;9490294;9541407;9677409;9703434;9705317;9888420;9920938;9925661", "class_list": "", "function": "Data indicate that ribosomal protein L11 (RPL11)-expressing cells proliferated more rapidly than the ribosomal protein L11 (RPL11)-expressing cells., [RefSeq, PubMed]; Prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1)., [RefSeq, PubMed]; Retinol dehydrogenase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinol, and to a lesser extent on 13-cis-retinol (PubMed:12036956, PubMed:12226107, PubMed:29410696). Exhibits a low reductive activity towards unsaturated medium-chain aldehydes such as cis -6-nonenal and no activity toward nonanal or 4-hydroxy-nonenal (PubMed:15865448). Has no dehydrogenase activity towards steroid (PubMed:12036956, PubMed:12226107)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The core protein of HCV can interact with translin protein. This can partly explain the molecular mechanism for hepatocellular carcinoma and lymphoma caused by HCV., [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": 0, "reported_glycation": 0, "reported_snv": 9, "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": "A6NDK3;A8K062;B2RB26;B4DDW0;Q0QD40;Q6IAH5;Q9NRW0;Q9Y391", "ec_number_list": "1.1.1.300;1.1.1.-;1.1.1.64;1.1.1.54;1.1.1.216;1.1.1.21;1.1.1.372;1.1.1.357;1.1.1.62;1.1.1.188;1.1.1.239;1.1.1.210;1.1.1.53;1.1.1.315;1.1.1.209;1.1.1.184", "go_molecular_function": "GO:0004745 all-trans-retinol dehydrogenase (NAD+) activity;GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;GO:0052650 all-trans-retinol dehydrogenase (NADP+) activity;GO:0033721 aldehyde dehydrogenase (NADP+) activity;GO:0102354 11-cis-retinol dehydrogenase (NADP+) activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0001917 photoreceptor inner segment", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0042572 retinol metabolic process;GO:0007601 visual perception;GO:0042574 retinal metabolic process;GO:0110095 cellular detoxification of aldehyde", "synthesized_glycan_count": 0, "hit_score": 16.1, "record_id": "Q8TC12-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PCB7-1", "uniprot_id": "S27A1_HUMAN", "mass": 71108.0, "length": 646, "protein_name": "Long-chain fatty acid transport protein 1", "gene_name": "SLC27A1", "organism": "Human", "refseq_name": "long-chain fatty acid transport protein 1", "refseq_ac": "NP_940982", "gene_names_uniprotkb": "SLC27A1; ACSVL5; FATP1", "gene_names_refseq": "ACSVL5; FATP-1; FATP1; FATP; SLC27A1", "protein_names_uniprotkb": "Long-chain fatty acid transport protein 1; 6.2.1.-; 6.2.1.15; 6.2.1.3; Arachidonate--CoA ligase; FATP-1; Fatty acid transport protein 1; Long-chain-fatty-acid--CoA ligase; Solute carrier family 27 member 1; Very long-chain acyl-CoA synthetase", "protein_names_refseq": "arachidonate--CoA ligase; fatty acid transport protein 1; long-chain fatty acid transport protein 1; long-chain-fatty-acid--CoA ligase; solute carrier family 27 (fatty acid transporter), member 1; very long-chain acyl-CoA synthetase", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); glucose intolerance (Disease Ontology:DOID:10603); familial hyperlipidemia (Disease Ontology:DOID:1168); hyperinsulinism (Disease Ontology:DOID:2018); myocardial infarction (Disease Ontology:DOID:5844); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:376497); (R-HSA-1989781); (R-HSA-2142753); (R-HSA-804914)", "pathway_count": 4, "publication_count": 73, "publication_id_list": "10518211;10777541;10873384;11237011;11267664;12118000;12177166;12235169;12505311;12556534;12582161;12818409;15067378;15130092;15635043;15671038;15897321;16380219;16504339;16972786;17015445;18540824;18719978;18848529;19088433;19710929;19926788;19934321;19946382;20110263;20124557;20530735;21247147;21395585;21746768;24196956;25645385;27862975;27893789;28178239;29557506;30429286;30674874;30779550;30970241;31091338;31575907;31844290;31848261;32157095;32357974;32387766;32488085;32938616;32983136;33298915;33486652;33912179;33968037;3453108;35051231;35580925;36010968;6810878;7684291;7685352;7892212;7918467;7954810;8647822;9012850;9748239;9878842", "class_list": "", "function": "Exogenously supplied fatty acids are preferentially channeled by an FATP1-linked mechanism into the TG biosynthetic pathway; such internalized lipids downregulate de novo sphingomyelin and cholesterol metabolism in growing 293 cells, [RefSeq, PubMed]; FATP1 might play a role in post-prandial lipid metabolism and development of cardiovascular disease. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Mediates the import of long-chain fatty acids (LCFA) into the cell by facilitating their transport at the plasma membrane (PubMed:12556534, PubMed:20530735, PubMed:21395585, PubMed:28178239). Also functions as an acyl-CoA ligase catalyzing the ATP-dependent formation of fatty acyl-CoA using LCFA and very-long-chain fatty acids (VLCFA) as substrates, which prevents fatty acid efflux from cells and might drive more fatty acid uptake. May act directly as a bona fide transporter, or alternatively, in a cytoplasmic or membrane-associated multimeric protein complex to trap and draw fatty acids towards accumulation. Plays a pivotal role in regulating available LCFA substrates from exogenous sources in tissues undergoing high levels of beta-oxidation or triglyceride synthesis. May be involved in regulation of cholesterol metabolism (By similarity). Probably involved in fatty acid transport across the blood barrier (PubMed:21395585)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; The inhibition of Fatp1 by tumor necrosis factor alpha alleviated oleate-induced total FFA and TG accumulation in macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; The role of FATP1 in lipid accumulation: a review. Review article, [RefSeq, PubMed]; Unraveling FATP1, regulated by ER-beta, as a targeted breast cancer innovative therapy. Publication Status: Online-Only, [RefSeq, PubMed]; We have established for the first time that FATP1 is a major contributor to docosahexaenoic acid efflux from human brain capillary 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": 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": "A6NIH2;B7Z662", "ec_number_list": "6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;6.2.1.2;2.3.1.48;3.6.4.-;6.2.1.76;2.1.1.319;2.3.1.-;2.1.1.-;3.1.13.1;5.6.2.6;3.6.4.13", "go_molecular_function": "GO:0015245 fatty acid transmembrane transporter activity;GO:0005324 long-chain fatty acid transmembrane transporter activity;GO:0042802 identical protein binding;GO:0000166 nucleotide binding;GO:0004467 long-chain fatty acid-CoA ligase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0009925 basal plasma membrane", "go_biological_process": "GO:1990379 lipid transport across blood-brain barrier;GO:0015878 biotin transport;GO:0001676 long-chain fatty acid metabolic process;GO:0044539 long-chain fatty acid import into cell;GO:0015909 long-chain fatty acid transport", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q6PCB7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WVD5-1", "uniprot_id": "RN141_HUMAN", "mass": 25535.0, "length": 230, "protein_name": "RING finger protein 141", "gene_name": "RNF141", "organism": "Human", "refseq_name": "RING finger protein 141", "refseq_ac": "NP_057506", "gene_names_uniprotkb": "RNF141; ZNF230", "gene_names_refseq": "RFP141; RNF141; ZFP26; ZNF230", "protein_names_uniprotkb": "RING finger protein 141; Zinc finger protein 230", "protein_names_refseq": "C3HC4-like zinc finger protein; RING finger protein 141; zinc finger protein 230", "tax_id": 9606, "disease": "", "pathway": " (hsa:50862)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;11672448;12804569;25255805;25418920;25807930;26929215;26992070;28547869;29393594;29557506;31844290;32350084;33912179;33981976;35251023;36240223", "class_list": "", "function": "A germ cell-specific transcription factor RFP141 reveals a unique RING fold., [RefSeq, PubMed]; Analysis of the mouse counterpart., [RefSeq, PubMed]; May be involved in spermatogenesis., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. Abundant expression of this gene was found in the testicular tissue of fertile men, but was not detected in azoospermic patients. Studies of the mouse counterpart suggest that this gene may function as a testis specific transcription factor during spermatogenesis. [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": 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": "A8K149;Q9NZB4", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0051865 protein autoubiquitination", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q8WVD5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q76EJ3-1", "uniprot_id": "S35D2_HUMAN", "mass": 36673.0, "length": 337, "protein_name": "Nucleotide sugar transporter SLC35D2", "gene_name": "SLC35D2", "organism": "Human", "refseq_name": "nucleotide sugar transporter SLC35D2 isoform b", "refseq_ac": "NP_001273919", "gene_names_uniprotkb": "SLC35D2; HFRC; UGTREL8", "gene_names_refseq": "HFRC1; SLC35D2; SQV7L; UGTrel8; hfrc", "protein_names_uniprotkb": "Nucleotide sugar transporter SLC35D2; HFRC1; Homolog of Fringe connection protein 1; SQV7-like protein; SQV7L; Solute carrier family 35 member D2; UDP-galactose transporter-related protein 8; UGTrel8", "protein_names_refseq": "SQV7-like protein; UDP-N-acetylglucosamine transporter; UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter; UDP-galactose transporter-related protein 8; fringe connection; homolog of Fringe connection protein 1; nucleotide sugar transporter SLC35D2 isoform b; nucleotide sugar transporter SLC35D2; solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2", "tax_id": 9606, "disease": "depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:11046); (R-HSA-173599); (R-HSA-2022854); (R-HSA-2022928); (R-HSA-727802)", "pathway_count": 5, "publication_count": 84, "publication_id_list": "10206952;10318803;10393322;10491328;10504389;10639137;10644753;10677367;10716625;11030741;11042166;11042394;11087757;11169766;11237011;11274177;11279150;11283017;11322953;11390981;11588157;11784306;11821425;11901181;12138164;12218059;12492399;15044486;15082721;15486459;15560372;15607426;15620693;15911612;16343444;17021253;1714903;17599910;19276090;20554947;21700882;24715725;26154972;27600516;28132690;28148688;28832583;29393594;29557506;29632711;30471091;30484775;30833945;31154438;31844290;32157095;32502341;32983136;33091337;33159882;33392160;33968037;34171305;34932366;35051231;35580925;35676258;36215666;36241641;38034954;7601448;8333853;8611500;8889805;8920913;9346953;9405439;9417100;9463333;9535912;9597550;9915799;9927678;9988767", "class_list": "glycogene", "function": "HFRC1 takes part in the synthesis of heparan sulfate by regulating the level of UDP-GlcNAc, a donor substrate for the heparan sulfate synthases, [RefSeq, PubMed]; HFRC1 was overexpressed in human bronchial epithelial cells and was shown to localize in the Golgi and to enhance the surface expression of N-acetylglucosamine-rich glycans., [RefSeq, PubMed]; Nucleotide sugar antiporter transporting UDP-N-acetylglucosamine (UDP-GlcNAc) and UDP-glucose (UDP-Glc) from the cytosol into the lumen of the Golgi in exchange of UMP. By supplying UDP-N-acetylglucosamine, a donor substrate to heparan sulfate synthases, probably takes part in the synthesis of these glycoconjugates., [UniProtKB, PubMed, PubMed]; Nucleotide sugars, which are synthesized in the cytosol or the nucleus, are high-energy donor substrates for glycosyltransferases located in the lumen of the endoplasmic reticulum and Golgi apparatus. Translocation of nucleotide sugars from the cytosol into the lumen compartment is mediated by specific nucleotide sugar transporters, such as SLC35D2 (Suda et al., 2004 [PubMed 15082721]).[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": 367, "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": "O95454;Q498C1;Q75W21;Q7Z5X5", "ec_number_list": "", "go_molecular_function": "GO:0015297 antiporter activity;GO:0005338 nucleotide-sugar transmembrane transporter activity;GO:0005461 UDP-glucuronate transmembrane transporter activity;GO:0005462 UDP-N-acetylglucosamine transmembrane transporter activity;GO:0005463 UDP-N-acetylgalactosamine transmembrane transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0015012 heparan sulfate proteoglycan biosynthetic process;GO:0015780 nucleotide-sugar transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q76EJ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H4I0-1", "uniprot_id": "RD21L_HUMAN", "mass": 63324.0, "length": 556, "protein_name": "Double-strand-break repair protein rad21-like protein 1", "gene_name": "RAD21L1", "organism": "Human", "refseq_name": "double-strand-break repair protein rad21-like protein 1 isoform 1", "refseq_ac": "NP_001130038", "gene_names_uniprotkb": "RAD21L1; RAD21L", "gene_names_refseq": "RAD21L1; RAD21L; dJ545L17.2", "protein_names_uniprotkb": "Double-strand-break repair protein rad21-like protein 1", "protein_names_refseq": "RAD21-like 1; double-strand-break repair protein rad21-like protein 1 isoform 1; double-strand-break repair protein rad21-like protein 1", "tax_id": 9606, "disease": "Cornelia de Lange syndrome 4 (Disease Ontology:DOID:0080508)", "pathway": " (hsa:642636)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;21527826;23481700;28218747;28228285;28635411;29242379;30315122;31154438;31844290;31848261;32161166;32350084;32741963;33592498;33968037;34561969;35051231;35251023", "class_list": "", "function": "Meiosis-specific component of some cohesin complex required during the initial steps of prophase I in male meiosis. Probably required during early meiosis in males for separation of sister chromatids and homologous chromosomes. Replaces RAD21 in premeiotic S phase (during early stages of prophase I), while RAD21 reappears in later stages of prophase I. Involved in synaptonemal complex assembly, synapsis initiation and crossover recombination between homologous chromosomes during prophase I (By similarity)., [UniProtKB]; RAD21L is identified as a novel cohesin complex subunit homologous to mammalian RAD21/REC8/alpha-kleisin subfamily., [RefSeq, PubMed]; The association of three single-nucleotide polymorphisms with azoospermia, especially Sertoli cell-only syndrome, was studied in Japanese men., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RXL0;B7ZBB1;B7ZW76;Q5W0X5", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding", "go_cellular_component": "GO:0030893 meiotic cohesin complex;GO:0005634 nucleus;GO:0005694 chromosome;GO:0008278 cohesin complex", "go_biological_process": "GO:0007059 chromosome segregation;GO:0051321 meiotic cell cycle;GO:0007062 sister chromatid cohesion;GO:1990414 replication-born double-strand break repair via sister chromatid exchange;GO:0034089 establishment of meiotic sister chromatid cohesion", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9H4I0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2M4-1", "uniprot_id": "TBC14_HUMAN", "mass": 78137.0, "length": 693, "protein_name": "TBC1 domain family member 14", "gene_name": "TBC1D14", "organism": "Human", "refseq_name": "TBC1 domain family member 14 isoform d", "refseq_ac": "NP_001317567", "gene_names_uniprotkb": "TBC1D14; KIAA1322", "gene_names_refseq": "TBC1D14", "protein_names_uniprotkb": "TBC1 domain family member 14", "protein_names_refseq": "TBC1 domain family member 14 isoform d", "tax_id": 9606, "disease": "", "pathway": " (hsa:57533); (R-HSA-8854214)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10202141;11237011;16055087;16395330;17658474;17901050;18186464;18199687;18319245;18466115;19077034;19651622;20095038;20116244;20363736;20404108;21383079;21458671;22219378;22613832;22762500;22795129;22854040;23019362;23186163;23481700;23562278;24275569;24714562;25576301;26711178;27600516;27920218;28649982;28904123;29393594;29493099;29557506;29632046;30379171;30524438;31844290;32157095;32357974;32502341;32897882;32938616;32983136;33592498;33912179;33968037;34171305;34932366;35051231;35561310;35580925;37938771;40307207", "class_list": "", "function": "Crystal structures of the first two mammalian TBCs, human TBC1 family members 22A (TBC1D22A) and 14 (TBC1D14), [RefSeq, PubMed]; Plays a role in the regulation of starvation-induced autophagosome formation (PubMed:22613832). Together with the TRAPPIII complex, regulates a constitutive trafficking step from peripheral recycling endosomes to the early Golgi, maintaining the cycling pool of ATG9 required for initiation of autophagy., [UniProtKB, PubMed, PubMed]; TBC1D14 binds activated Rab11 but is not a GAP for Rab11, and loss of Rab11 prevents TBC1D14-induced tubulation of recycling endosomes., [RefSeq, PubMed]; TRAPPC8 modulates autophagy and secretory trafficking and is required for TBC1D14 to bind TRAPPIII., [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": 2, "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": "B9A6L5;D3DVT4;E9PAZ6;Q8IW15;Q8NDK3", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0019901 protein kinase binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0055037 recycling endosome;GO:0005776 autophagosome;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0006914 autophagy;GO:0010507 negative regulation of autophagy;GO:2000785 regulation of autophagosome assembly;GO:0071955 recycling endosome to Golgi transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9P2M4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75382-1", "uniprot_id": "TRIM3_HUMAN", "mass": 80830.0, "length": 744, "protein_name": "Tripartite motif-containing protein 3", "gene_name": "TRIM3", "organism": "Human", "refseq_name": "tripartite motif-containing protein 3 isoform 1", "refseq_ac": "NP_001234935", "gene_names_uniprotkb": "TRIM3; BERP; RNF22; RNF97", "gene_names_refseq": "BERP; HAC1; RNF22; RNF97; TRIM3", "protein_names_uniprotkb": "Tripartite motif-containing protein 3; 2.3.2.27; Brain-expressed RING finger protein; RING finger protein 22; RING finger protein 97", "protein_names_refseq": "RING finger protein 97; brain expressed ring finger; brain-expressed RING finger protein; ring finger protein 22; tripartite motif protein TRIM3; tripartite motif-containing protein 3 isoform 1; tripartite motif-containing protein 3", "tax_id": 9606, "disease": "autosomal recessive limb-girdle muscular dystrophy (Disease Ontology:DOID:0110274); autosomal recessive limb-girdle muscular dystrophy type 2H (Disease Ontology:DOID:0110282); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:10612); (R-HSA-877300)", "pathway_count": 2, "publication_count": 90, "publication_id_list": "10067896;10986460;11170753;11237011;11331580;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15388922;15530433;15772161;16237089;16467876;17081983;17125875;18362138;18591661;18669648;19413330;19460345;19651622;20049711;20130243;20166139;20304997;20363976;23061660;23186163;24393003;24417533;24715725;25576301;28228285;28514659;28832583;28904123;29242379;29786170;30315122;30524438;30779550;31844290;32157095;32350084;32387766;32488085;32878999;32938616;33141586;33239784;33592498;33968037;33981976;34087483;35051231;35251023;35318648;35580925;36010968;36215666;36241641;36481767;37978273;38367118;38411731;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9111318;9143706", "class_list": "", "function": "Advances in the antitumor mechanisms of tripartite motif-containing protein 3. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Divergent self-association properties of paralogous proteins TRIM2 and TRIM3 regulate their E3 ligase activity. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin ligase that plays essential roles in neuronal functions such as regulation of neuronal plasticity, learning, and memory (By similarity). In addition to its neuronal functions, participates in other biological processes such as innate immunity or cell cycle regulation. Component of the cytoskeleton-associated recycling or transport complex in neurons, polyubiquitinates gamma-actin, thus regulating neuronal plasticity, learning, and memory (By similarity). Ubiquitinates postsynaptic scaffold GKAP, a neuronal substrate involved in synaptic remodeling and thereby modulates dendritic spine morphology (By similarity). Positively regulates motility of microtubule-dependent motor protein KIF21B (By similarity). Induces growth arrest via its RING-dependent E3 ligase activity and ubiquitinates CDKN1A (PubMed:24393003). Positively regulates TLR3-mediated signaling by mediating 'Lys-63'-linked polyubiquitination of TLR3 (PubMed:32878999). In turn, promotes the recognition and sorting of polyubiquitinated TLR3 by the ESCRT complexes (PubMed:32878999)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; TRIM3 facilitates ferroptosis in non-small cell lung cancer through promoting SLC7A11/xCT K11-linked ubiquitination and degradation., [RefSeq, PubMed]; The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also called the 'RING-B-box-coiled-coil' (RBCC) subgroup of RING finger proteins. 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 protein localizes to cytoplasmic filaments. It is similar to a rat protein which is a specific partner for the tail domain of myosin V, a class of myosins which are involved in the targeted transport of organelles. The rat protein can also interact with alpha-actinin-4. Thus it is suggested that this human protein may play a role in myosin V-mediated cargo transport. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; Tripartite-motif 3 represses ovarian cancer progression by downregulating lactate dehydrogenase A and inhibiting AKT 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": 3, "reported_mutagensis": 2, "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": "B7Z5E6;F5H2Q8;Q4V9L4;Q9C038;Q9C039", "ec_number_list": "2.3.2.27;2.7.7.84;1.8.4.-;1.8.-.-;2.3.2.-;3.6.1.-;3.6.5.-;2.7.11.1;2.3.1.-;6.3.2.n3", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0030425 dendrite", "go_biological_process": "GO:0034141 positive regulation of toll-like receptor 3 signaling pathway;GO:0007399 nervous system development;GO:0015031 protein transport;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "O75382-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14699-1", "uniprot_id": "RFTN1_HUMAN", "mass": 63146.0, "length": 578, "protein_name": "Raftlin", "gene_name": "RFTN1", "organism": "Human", "refseq_name": "raftlin", "refseq_ac": "NP_055965", "gene_names_uniprotkb": "RFTN1; KIAA0084; MIG2", "gene_names_refseq": "MIG2; PIB10; PIG9; RAFTLIN; RFTN1", "protein_names_uniprotkb": "Raftlin; Cell migration-inducing gene 2 protein; Raft-linking protein", "protein_names_refseq": "cell migration-inducing gene 2 protein; proliferation-inducing protein 10; proliferation-inducing protein 9; raft-linking protein; raftlin", "tax_id": 9606, "disease": "glaucoma (Disease Ontology:DOID:1686)", "pathway": " (hsa:23180)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "11237011;12805216;17081983;18578522;18991276;19834535;20213681;21266579;21406692;23328677;24275569;24714562;24715725;26154972;26992070;27022195;27846572;27862975;28467828;29437277;29493099;29557506;30429286;30620550;30779550;31154438;31217245;31844290;31848261;31998317;32157095;32350084;32357974;32502341;32897882;32983136;33141586;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34185709;34211107;34433824;34932366;35051231;35490655;35494241;35580925;36010968;36139155;36241641;36284347;36341844;37208489;37938771;38278125;40914422", "class_list": "", "function": "Association between raftlin and presepsin levels with periodontal healthy and disease conditions., [RefSeq, PubMed]; Expression of Major Lipid Raft Protein Raftlin in Chronic Rhinosinusitis with Nasal Polyps in Smoking and Non-Smoking Patients Correlated with Interleukin-17 and Tumor Necrosis Factor-alpha Levels. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in protein trafficking via association with clathrin and AP2 complex (PubMed:21266579, PubMed:27022195). Upon bacterial lipopolysaccharide stimulation, mediates internalization of TLR4 to endosomes in dendritic cells and macrophages; and internalization of poly(I:C) to TLR3-positive endosomes in myeloid dendritic cells and epithelial cells; resulting in activation of TICAM1-mediated signaling and subsequent IFNB1 production (PubMed:21266579, PubMed:27022195). Involved in T-cell antigen receptor-mediated signaling by regulating tyrosine kinase LCK localization, T-cell dependent antibody production and cytokine secretion (By similarity). May regulate B-cell antigen receptor-mediated signaling (PubMed:12805216). May play a pivotal role in the formation and/or maintenance of lipid rafts (PubMed:12805216)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RFTN1 facilitates gastric cancer progression by modulating AKT/p38 signaling pathways., [RefSeq, PubMed]; Raftlin and 8-iso-prostaglandin F2alpha levels and gene network analysis in patients with Modic changes., [RefSeq, PubMed]; Serum NOX1 and Raftlin as new potential biomarkers of Major Depressive Disorder: A study in treatment-naive first episode patients., [RefSeq, PubMed]; These data suggest that Raftlin plays a pivotal role in the formation and/or maintenance of lipid rafts, therefore regulating B-cell antigen receptor-mediated 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": 7, "reported_mutagensis": 2, "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": "Q0D2G0;Q496Y2;Q4QQI7;Q5JB48;Q7Z7P2", "ec_number_list": "", "go_molecular_function": "GO:0003725 double-stranded RNA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0002457 T cell antigen processing and presentation;GO:0032740 positive regulation of interleukin-17 production;GO:0050852 T cell receptor signaling pathway;GO:0050853 B cell receptor signaling pathway;GO:0043330 response to exogenous dsRNA", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q14699-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NNN8-1", "uniprot_id": "S38A8_HUMAN", "mass": 46731.0, "length": 435, "protein_name": "Solute carrier family 38 member 8", "gene_name": "SLC38A8", "organism": "Human", "refseq_name": "solute carrier family 38 member 8", "refseq_ac": "NP_001073911", "gene_names_uniprotkb": "SLC38A8", "gene_names_refseq": "FHASD; FVH2; SLC38A8; SNAT8", "protein_names_uniprotkb": "Solute carrier family 38 member 8; Amino acid transporter SLC38A8", "protein_names_refseq": "amino acid transporter SLC38A8; putative sodium-coupled neutral amino acid transporter 8; solute carrier family 38 member 8", "tax_id": 9606, "disease": "foveal hypoplasia 2 (Disease Ontology:DOID:0070531)", "pathway": " (hsa:146167)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;24045842;24289273;24290379;32032626;32157095;32387766;32744312;33498813;33594928;35029636;35051231", "class_list": "", "function": "Electrogenic sodium-dependent amino acid transporter with a preference for L-glutamine, L-alanine, L-histidine, L-aspartate and L-arginine. May facilitate glutamine uptake in both excitatory and inhibitory neurons. The transport mechanism and stoichiometry remain to be elucidated., [UniProtKB, UniProtKB]; Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism., [RefSeq, PubMed]; Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation., [RefSeq, PubMed]; Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia. Publication Status: Online-Only, [RefSeq, PubMed]; Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Review article, [RefSeq, PubMed]; SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization., [RefSeq, PubMed]; Study found that SNP rs9931086 in the SLC38A8 gene and genes CTLA-4, HDAC, and PPAR-alpha, which are involved in inflammatory processes, may modify the effects of occupational exposure on lung function. Publication Status: Online-Only, [RefSeq, PubMed]; The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences., [RefSeq, PubMed]; The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus., [RefSeq, PubMed]; This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0015179 L-amino acid transmembrane transporter activity", "go_cellular_component": "GO:0005938 cell cortex;GO:0016020 membrane;GO:0030424 axon", "go_biological_process": "GO:0003333 amino acid transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "A6NNN8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NP77-1", "uniprot_id": "SSU72_HUMAN", "mass": 22574.0, "length": 194, "protein_name": "RNA polymerase II subunit A C-terminal domain phosphatase SSU72", "gene_name": "SSU72", "organism": "Human", "refseq_name": "RNA polymerase II subunit A C-terminal domain phosphatase SSU72", "refseq_ac": "NP_054907", "gene_names_uniprotkb": "SSU72; HSPC182; PNAS-120", "gene_names_refseq": "HSPC182; PNAS-120; SSU72", "protein_names_uniprotkb": "RNA polymerase II subunit A C-terminal domain phosphatase SSU72; 3.1.3.16; CTD phosphatase SSU72", "protein_names_refseq": "CTD phosphatase SSU72; RNA polymerase II subunit A C-terminal domain phosphatase SSU72", "tax_id": 9606, "disease": "liver disease (Disease Ontology:DOID:409)", "pathway": " (hsa:29101); (R-HSA-6807505)", "pathway_count": 2, "publication_count": 109, "publication_id_list": "10022900;11856838;12414730;12574128;14701755;1535687;15659578;16239144;16308568;16901896;1739980;17697703;18079403;1829677;18597038;19667075;20068231;20457598;20818333;20861839;2125285;22137580;22231121;22252320;22441827;22645359;23070812;23166507;23481700;23932780;24097444;24270878;24714562;24715725;24997600;25469497;25576301;25645385;25675981;26154972;26728094;26992070;27543614;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28860189;28904123;29158257;29242379;29393594;2944599;29493099;29508533;29557506;29632046;29789417;30315122;30429286;30833945;30901332;31217245;31530632;31844290;31848261;31998317;32157095;32265295;32387766;32488085;32502341;32897882;32938616;32983136;33244642;33298915;33592498;33717175;33912179;33917542;33936100;33968037;33981976;34019948;34087483;34171305;34932366;35051231;35561310;35580925;36010968;36284347;37938771;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "class_list": "", "function": "A hand-off model in which Ssu72 mediates a conformational transition in TFIIB, accounting for the role of Ssu72 in transcription reinitiation, gene looping, and promoter-terminator cross-talk., [RefSeq, PubMed]; Crystal structure at 2.4 A resolution of the amino-terminal domain (residues 30-340) of human symplekin in a ternary complex with the Pol II carboxy-terminal domain (CTD) Ser 5 phosphatase Ssu72 and a CTD Ser 5 phosphopeptide, [RefSeq, PubMed]; Data suggest that Ssu72 is a novel cohesin-binding protein capable of regulating cohesion between sister chromatid arms., [RefSeq, PubMed]; Diverse and conserved roles of the protein Ssu72 in eukaryotes: from yeast to higher organisms. Review article, [RefSeq, PubMed]; Molecular cloning and characterization of functions of human ssu72. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Protein phosphatase that catalyzes the dephosphorylation of the C-terminal domain of RNA polymerase II. Plays a role in RNA processing and termination. Plays a role in pre-mRNA polyadenylation via its interaction with SYMPK., [UniProtKB, PubMed, PubMed, PubMed]; Results demonstrate when Ssu72 can act on early transcription complexes and suggest that Ssu72 may also function in thepreinitiation complex prior to initiation. Publication Status: Online-Only, [RefSeq, PubMed]; Ssu72 Dual-Specific Protein Phosphatase: From Gene to Diseases. 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": 1, "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": "Q9BZS6;Q9H933", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.-;3.1.13.-;2.7.7.48;2.7.7.6;2.7.11.22;2.7.11.23;2.7.11.24;3.1.3.67;3.1.3.53;2.3.1.48;3.1.27.-;3.1.3.52;3.1.3.27;3.1.3.86;3.1.3.36;3.1.3.74", "go_molecular_function": "GO:0008420 RNA polymerase II CTD heptapeptide repeat phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005847 mRNA cleavage and polyadenylation specificity factor complex", "go_biological_process": "GO:0006369 termination of RNA polymerase II transcription;GO:0180010 co-transcriptional mRNA 3'-end processing, cleavage and polyadenylation pathway", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q9NP77-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WV83-1", "uniprot_id": "S35F5_HUMAN", "mass": 58887.0, "length": 523, "protein_name": "Solute carrier family 35 member F5", "gene_name": "SLC35F5", "organism": "Human", "refseq_name": "solute carrier family 35 member F5 isoform 5", "refseq_ac": "NP_001317246", "gene_names_uniprotkb": "SLC35F5; NS5ATP3; PRO6097", "gene_names_refseq": "SLC35F5", "protein_names_uniprotkb": "Solute carrier family 35 member F5; HCV NS5A-transactivated protein 3; Hepatitis C virus NS5A-transactivated protein 3", "protein_names_refseq": "HCV NS5A-transactivated protein 3; hepatitis C virus NS5A-transactivated protein 3; solute carrier family 35 member F5 isoform 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:80255)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;12975309;16477629;21136679;23186163;25502872;25576301;26992070;28904123;29557506;30484775;31217245;31844290;32157095;32350084;32357974;32897882;32938616;32983136;33592498;33936100;33968037;34087483;34171305;34357683;35051231;35154160;35580925;36010968;36215666;36241641;36284347;40972734", "class_list": "", "function": "Mediates choline transport, although the underlying transport mechanism remains to be elucidated., [UniProtKB, PubMed]; Putative solute transporter., [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": 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": "Q9H6P8;Q9H7D8", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0015220 choline transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0015871 choline transport", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q8WV83-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P227-1", "uniprot_id": "RHG23_HUMAN", "mass": 162192.0, "length": 1491, "protein_name": "Rho GTPase-activating protein 23", "gene_name": "ARHGAP23", "organism": "Human", "refseq_name": "rho GTPase-activating protein 23", "refseq_ac": "NP_001186346", "gene_names_uniprotkb": "ARHGAP23; KIAA1501", "gene_names_refseq": "ARHGAP23", "protein_names_uniprotkb": "Rho GTPase-activating protein 23; Rho-type GTPase-activating protein 23", "protein_names_refseq": "rho GTPase-activating protein 23; rho-type GTPase-activating protein 23", "tax_id": 9606, "disease": "", "pathway": " (hsa:57636); (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;11237011;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;15254754;15302923;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;18829452;18838382;19269969;19494238;19605563;19635168;19673492;19713215;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;23186163;23200924;23209303;23255595;23288169;23434736;23481700;23572525;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24275569;24335996;24352656;24859002;24933155;24960694;25024229;25211221;25428919;25576301;25645385;25704760;25721503;25795300;25862245;26129894;26371245;26529257;26887924;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27806292;27862975;27920218;27986909;28112683;28114311;28196833;28514659;28584191;28832583;29089502;29146911;29242379;29358323;29382922;29557506;29632711;29786170;30429286;30853411;31105010;31154438;31848261;31871319;32157095;32203420;32387766;32502341;32938616;33717175;33912179;33968037;34171305;34561969;35051231;35580925;38838015;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": "GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state., [UniProtKB]; The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[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": 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": 22, "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:0005096 GTPase activator activity", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007165 signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 29.8, "record_id": "Q9P227-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94813-1", "uniprot_id": "SLIT2_HUMAN", "mass": 169870.0, "length": 1529, "protein_name": "Slit homolog 2 protein", "gene_name": "SLIT2", "organism": "Human", "refseq_name": "slit homolog 2 protein isoform 2 precursor", "refseq_ac": "NP_001276064", "gene_names_uniprotkb": "SLIT2; SLIL3", "gene_names_refseq": "SLIL3; SLIT2; Slit-2", "protein_names_uniprotkb": "Slit homolog 2 protein; Slit-2", "protein_names_refseq": "slit homolog 2 protein isoform 2 precursor; slit homolog 2 protein", "tax_id": 9606, "disease": "Kartagener syndrome (Disease Ontology:DOID:0050144); visceral heterotaxy (Disease Ontology:DOID:0050545); small intestine carcinoid neuroendocrine tumor (Disease Ontology:DOID:0050925); atrial fibrillation (Disease Ontology:DOID:0060224); polymyositis (Disease Ontology:DOID:0080745); dermatomyositis (Disease Ontology:DOID:10223); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); transient cerebral ischemia (Disease Ontology:DOID:224); cystic kidney disease (Disease Ontology:DOID:2975); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); diabetic retinopathy (Disease Ontology:DOID:8947); primary ciliary dyskinesia (Disease Ontology:DOID:9562)", "pathway": " (hsa:9353); (R-HSA-373752); (R-HSA-376176); (R-HSA-428540); (R-HSA-428542); (R-HSA-428543); (R-HSA-428890); (R-HSA-8985586); (R-HSA-9010553); (R-HSA-9830674)", "pathway_count": 10, "publication_count": 57, "publication_id_list": "10.1101/2023.09.13.557529;10102266;10102268;10349621;10805734;10864954;10892742;10975526;11207612;11222645;11237011;11239147;11309622;11375980;11404413;12154370;12200164;12508280;15063764;16762451;17174565;17565045;17704564;17848514;19498462;19706539;20375348;23090970;23217742;23746841;24190977;24936616;25242263;25576301;25645385;26529257;26586761;29557506;31848261;32157095;32161166;32502341;32938616;33592498;33968037;34171305;35051231;36010968;37074911;37217939;37773612;37938771;38122948;38714291;9490638;9813312;9858595", "class_list": "", "function": "CircVAPA-rich small extracellular vesicles derived from gastric cancer promote neural invasion by inhibiting SLIT2 expression in neuronal cells., [RefSeq, PubMed]; Fourth Slit2 domain heparan sulphate binding contributes to a Slit-Robo signalling mechanism more intricate than previously thought., [RefSeq, PubMed]; Recombinant Slit2 attenuates tracheal fibroblast activation in benign central airway obstruction by inhibiting the TGF-beta1/Smad3 signaling pathway., [RefSeq, PubMed]; The chemorepellent, SLIT2, bolsters innate immunity against Staphylococcus aureus. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the slit family of secreted glycoproteins, which are ligands for the Robo family of immunoglobulin receptors. Slit proteins play highly conserved roles in axon guidance and neuronal migration and may also have functions during other cell migration processes including leukocyte migration. Members of the slit family are characterized by an N-terminal signal peptide, four leucine-rich repeats, nine epidermal growth factor repeats, and a C-terminal cysteine knot. Proteolytic processing of this protein gives rise to an N-terminal fragment that contains the four leucine-rich repeats and five epidermal growth factor repeats and a C-terminal fragment that contains four epidermal growth factor repeats and the cysteine knot. Both full length and cleaved proteins are secreted extracellularly and can function in axon repulsion as well as other specific processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]., [RefSeq]; Thought to act as molecular guidance cue in cellular migration, and function appears to be mediated by interaction with roundabout homolog receptors. During neural development involved in axonal navigation at the ventral midline of the neural tube and projection of axons to different regions. SLIT1 and SLIT2 seem to be essential for midline guidance in the forebrain by acting as repulsive signal preventing inappropriate midline crossing by axons projecting from the olfactory bulb. In spinal cord development may play a role in guiding commissural axons once they reached the floor plate by modulating the response to netrin. May be implicated in spinal cord midline post-crossing axon repulsion. In vitro, only commissural axons that crossed the midline responded to SLIT2. In the developing visual system appears to function as repellent for retinal ganglion axons by providing a repulsion that directs these axons along their appropriate paths prior to, and after passage through, the optic chiasm. In vitro, collapses and repels retinal ganglion cell growth cones. Seems to play a role in branching and arborization of CNS sensory axons, and in neuronal cell migration. In vitro, Slit homolog 2 protein N-product, but not Slit homolog 2 protein C-product, repels olfactory bulb (OB) but not dorsal root ganglia (DRG) axons, induces OB growth cones collapse and induces branching of DRG axons. Seems to be involved in regulating leukocyte migration., [UniProtKB, PubMed, PubMed, PubMed, PubMed, 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": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "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": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 127, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 13, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A6YYB8;B7ZLR5;O95710;Q17RU3;Q9Y5Q7", "ec_number_list": "", "go_molecular_function": "GO:0008201 heparin binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0005509 calcium ion binding;GO:0005095 GTPase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0090260 negative regulation of retinal ganglion cell axon guidance;GO:0002689 negative regulation of leukocyte chemotaxis;GO:0090027 negative regulation of monocyte chemotaxis;GO:0070100 negative regulation of chemokine-mediated signaling pathway;GO:0021972 corticospinal neuron axon guidance through spinal cord", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "O94813-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96CQ1-1", "uniprot_id": "S2536_HUMAN", "mass": 34283.0, "length": 311, "protein_name": "Solute carrier family 25 member 36", "gene_name": "SLC25A36", "organism": "Human", "refseq_name": "solute carrier family 25 member 36 isoform a", "refseq_ac": "NP_001098117", "gene_names_uniprotkb": "SLC25A36", "gene_names_refseq": "HHF8; PNC2; SLC25A36", "protein_names_uniprotkb": "Solute carrier family 25 member 36", "protein_names_refseq": "epididymis secretory sperm binding protein; solute carrier family 25 (pyrimidine nucleotide carrier), member 36; solute carrier family 25 member 36 isoform a", "tax_id": 9606, "disease": "familial hyperinsulinemic hypoglycemia 8 (Disease Ontology:DOID:0081328)", "pathway": " (hsa:55186)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11230166;11237011;17210862;20877624;23266187;24715725;25320081;25880248;27846572;27920218;28228285;28834231;28904123;29242379;31844290;31848261;31937595;31998317;32157095;32357974;32387766;32938616;33141586;33298915;33717175;33912179;33981976;34509645;34971397;35051231;35580925;36010968;36215666;36284347;36695547", "class_list": "", "function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation., [RefSeq, PubMed]; Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria. Selectively transports cytosine, guanosine, inosine and uridine (deoxy)nucleoside mono-, di-, and triphosphates by antiport mechanism. Catalyzes uniport at much lower rate (PubMed:25320081). May import (deoxy)nucleoside triphosphates in exchange for intramitochondrial (deoxy)nucleoside mono- and diphosphates, thus providing precursors necessary for de novo synthesis of mitochondrial DNA and RNA while exporting products of their catabolism (PubMed:25320081). Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potential and mitochondrial respiration., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The main physiological role of SLC25A33 and SLC25A36 is to import/export pyrimidine nucleotides into and from mitochondria, [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MYF7;Q05CY1;Q9H0G8;Q9NVN5", "ec_number_list": "", "go_molecular_function": "GO:0015218 pyrimidine nucleotide transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:1990519 pyrimidine nucleotide import into mitochondrion", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q96CQ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N1F8-1", "uniprot_id": "S11IP_HUMAN", "mass": 120259.0, "length": 1088, "protein_name": "Serine/threonine-protein kinase 11-interacting protein", "gene_name": "STK11IP", "organism": "Human", "refseq_name": "serine/threonine-protein kinase 11-interacting protein", "refseq_ac": "NP_443134", "gene_names_uniprotkb": "STK11IP; KIAA1898; LIP1; LKB1IP; STK11IP1", "gene_names_refseq": "LIP1; LKB1IP; STK11IP1; STK11IP", "protein_names_uniprotkb": "Serine/threonine-protein kinase 11-interacting protein; LKB1-interacting protein 1", "protein_names_refseq": "LKB1-interacting protein 1; STK11 interacting protein; serine/threonine-protein kinase 11-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:114790); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "11237011;11741830;12438709;17521700;18669648;19690332;20974850;22424782;23186163;23481700;23650620;24275569;24366607;24715725;25418920;25505266;25576301;25645385;26154972;26375851;26992070;27600516;27862975;27893789;27920218;28218747;28228285;28514659;28832583;28834231;29242379;29393594;29437277;29557506;29632046;29632711;29786170;30315122;30410026;30524438;30779550;31154438;31530632;31844290;31937595;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33486894;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34211107;34357683;34509645;34932366;35051231;35318648;35580925;36010968;36241641;36284347;8692836", "class_list": "", "function": "LKB1 and LIP1 provide negative control of TGFbeta signaling., [RefSeq, PubMed]; LKB1IP promotes pathological cardiac hypertrophy by targeting PTEN/Akt signalling pathway. Erratum:[J Cell Mol Med. 2022 Mar;26(5):1722-1723. doi: 10.1111/jcmm.17194. PMID: 35253382], [RefSeq, PubMed]; May regulate STK11/LKB1 function by controlling its subcellular localization., [UniProtKB, PubMed]; Observations provide complete information about the pattern and levels of LKB1 & p-acetyl-CoA carboxylase immunostaining in normal tissues and in lung tumors, and highlight the special relevance of abnormalities of the LKB1 pathway in lung adenocarcinoma, [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": 8, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "C9JQV3;Q8NAW9;Q8WXE4;Q96CN3;Q96PY9", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0140311 protein sequestering activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005765 lysosomal membrane;GO:0035578 azurophil granule lumen", "go_biological_process": "GO:0008104 intracellular protein localization", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q8N1F8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q63HN8-3", "uniprot_id": "RN213_HUMAN", "mass": 591407.0, "length": 5207, "protein_name": "E3 ubiquitin-protein ligase RNF213", "gene_name": "RNF213", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF213 isoform 3", "refseq_ac": "NP_001243000", "gene_names_uniprotkb": "RNF213; ALO17; C17orf27; KIAA1554; KIAA1618; MYSTR", "gene_names_refseq": "ALO17; C17orf27; KIAA1618; MYMY2; MYSTR; NET57; RNF213", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF213; 2.3.2.-; 2.3.2.27; 3.6.4.-; ALK lymphoma oligomerization partner on chromosome 17; E3 ubiquitin-lipopolysaccharide ligase RNF213; Mysterin; RING finger protein 213", "protein_names_refseq": "ALK lymphoma oligomerization partner on chromosome 17; E3 ubiquitin-lipopolysaccharide ligase RNF213; E3 ubiquitin-protein ligase RNF213 isoform 3; E3 ubiquitin-protein ligase RNF213; RING-type E3 ubiquitin transferase RNF213; mysterin", "tax_id": 9606, "disease": "cerebral cavernous malformation (Disease Ontology:DOID:0060669); Moyamoya disease (Disease Ontology:DOID:13099)", "pathway": " (hsa:57674); (R-HSA-9635465); (R-HSA-9725370); (R-HSA-983168)", "pathway_count": 4, "publication_count": 291, "publication_id_list": "10.1101/2023.09.13.557529;10216106;10556217;10702393;10706082;10706887;10934142;11062501;11110708;11280786;11310834;11350924;11504915;11751994;11850821;11943732;11988758;12112524;12185581;12424201;12646216;12750159;12800156;12920229;12934099;14734113;14962911;15169778;15208656;15224091;15224092;15374880;15571818;15588951;15895073;16153455;16161041;16170336;16595681;16825495;16849449;16871283;16939498;16954532;17086210;17353907;17416736;17483340;17625570;18097461;18318008;18452557;18593892;18594010;18662542;18669648;18691976;18701132;18724359;18923523;18923524;18923525;18991276;19028597;19352404;19369195;19452197;19456272;19459784;19489725;19690332;19851334;19874575;19940261;20068231;20454556;20454865;21048783;21134980;21164297;21213368;21406692;21415216;21494621;21596819;21656749;21799892;21838707;21847362;22249260;22275911;22327622;22347464;22377813;22424782;22544926;22570254;2261476;22645359;22658521;22688072;22898188;22931863;23104988;23110205;23139213;23186163;23201355;23239810;23481700;23661334;23783831;23957430;23994138;24029068;24060861;24275569;24445538;24475247;24496003;24518094;24613930;24658080;24714562;24715725;24736082;25043520;25187516;25218447;25278557;25342631;25393796;25418920;25421750;25502872;25505266;25576301;25645385;25780035;25802875;25813404;25880248;25892735;25921060;25956231;26001147;26062823;26070522;26126547;26154972;26198278;26278786;26301689;26375851;26728094;26766444;26811146;26929215;26992070;27245569;27397612;27452731;27573755;27600516;27655845;27698396;27736983;27787485;27846572;27874193;27893789;27920218;28063628;28218747;28228285;28404650;28446606;28467828;28514659;28635953;28659337;28741662;28832583;28834231;28855257;28904123;29242379;29331515;29351928;29387438;29393594;29437277;29455642;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;29873274;30131584;30192525;30315122;30379171;30410026;30484775;30524438;30573663;30626607;30692217;30705059;30779550;30833945;30846318;31154438;31217245;31222486;31366041;31530632;31645973;31844290;31848261;31937595;31998317;32139119;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33091337;33123756;33141586;33298915;33392160;33568546;33592498;33633747;33691108;33717175;33842849;33912179;33936100;33968037;33981976;34012115;34087483;34171305;34185709;34211107;34357683;34405274;34433824;34509645;34561969;34599178;34932366;35051231;35154160;35318648;35494241;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38253038;39159618;39233284;39302247;39375464;39479817;40164614;40205224;40914422;7824924;8633037;9380723;9668046;9819383", "class_list": "", "function": "Atypical E3 ubiquitin ligase that can catalyze ubiquitination of both proteins and lipids, and which is involved in various processes, such as lipid metabolism, angiogenesis and cell-autonomous immunity (PubMed:21799892, PubMed:26126547, PubMed:26278786, PubMed:26766444, PubMed:30705059, PubMed:32139119, PubMed:34012115). Acts as a key immune sensor by catalyzing ubiquitination of the lipid A moiety of bacterial lipopolysaccharide (LPS) via its RZ-type zinc-finger: restricts the proliferation of cytosolic bacteria, such as Salmonella, by generating the bacterial ubiquitin coat through the ubiquitination of LPS (PubMed:34012115, PubMed:39375464). Also acts indirectly by mediating the recruitment of the LUBAC complex, which conjugates linear polyubiquitin chains (PubMed:34012115). Ubiquitination of LPS triggers cell-autonomous immunity, such as antibacterial autophagy, leading to degradation of the microbial invader (PubMed:34012115). Also functions as an intracellular sensor for ISGylated proteins: upon type I interferon stimulation, undergoes ISGylation and oligomerizes on lipid droplets to form a binding platform for ISG15-modified substrate proteins, thereby acting as a broad-spectrum antimicrobial effector. Restricts intracellular bacterial pathogens, such as Listeria monocytogenes, in an ISG15-dependent manner by decorating the bacterial surface with ubiquitin to promote autophagic clearance (PubMed:34599178). Involved in lipid metabolism by regulating fat storage and lipid droplet formation; act by inhibiting the lipolytic process (PubMed:30705059). Also regulates lipotoxicity by inhibiting desaturation of fatty acids (PubMed:30846318). Also acts as an E3 ubiquitin-protein ligase via its RING-type zinc finger: mediates 'Lys-63'-linked ubiquitination of target proteins (PubMed:32139119, PubMed:33842849). Involved in the non-canonical Wnt signaling pathway in vascular development: acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, leading to inhibit the non-canonical Wnt signaling pathway and promoting vessel regression (PubMed:26766444). Also has ATPase activity; ATPase activity is required for ubiquitination of LPS (PubMed:34012115)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Involvement of RNF213 in genetic susceptibility to moyamoya disease, [RefSeq, PubMed]; KIAA1618 (ALO17) ia a novel fusion partner of anaplastic lymphoma kinase in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor cases., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Prevalence of RNF213 rs112735431 Genetic Polymorphism in Non-Cardioembolic Ischemic Cerebrovascular Disease: A Cross-Sectional Study in Thai Patients., [RefSeq, PubMed]; Rare RNF213 variants is related to early-onset intracranial atherosclerosis: A Chinese community-based study., [RefSeq, PubMed]; This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]., [RefSeq]; [The Effects of RNF213 on the Proliferation and Apoptosis of Acute Myeloid Leukemia THP-1 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": 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": 6, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "C9JCP4;D6RI12;F8WKS1;Q658P6;Q69YK7;Q6MZR1;Q8IWF4;Q8IZX1;Q8IZX2;Q8N406;Q8TEU0;Q9H6C9;Q9H6H9;Q9H6P3;Q9H8A9;Q9HCF4;Q9HCL8", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;2.3.2.24;2.3.2.23;2.3.2.26;2.3.2.27;2.3.2.31;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;2.3.2.-;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;6.2.1.-;3.1.-.-;2.3.2.34;3.6.5.-;2.3.2.32;7.6.2.1;7.2.2.-;5.6.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;2.3.2.25;2.3.2.36;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0016887 ATP hydrolysis activity;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0019216 regulation of lipid metabolic process;GO:0016567 protein ubiquitination;GO:0098792 xenophagy;GO:0042742 defense response to bacterium", "synthesized_glycan_count": 0, "hit_score": 30.4, "record_id": "Q63HN8-3", "record_type": "protein" }, { "uniprot_canonical_ac": "P85298-1", "uniprot_id": "RHG08_HUMAN", "mass": 53484.0, "length": 464, "protein_name": "Rho GTPase-activating protein 8", "gene_name": "ARHGAP8", "organism": "Human", "refseq_name": "rho GTPase-activating protein 8 isoform 1", "refseq_ac": "NP_001017526", "gene_names_uniprotkb": "ARHGAP8", "gene_names_refseq": "ARHGAP8; BPGAP1; PP610", "protein_names_uniprotkb": "Rho GTPase-activating protein 8; Rho-type GTPase-activating protein 8", "protein_names_refseq": "BCH domain-containing Cdc42GAP-like protein; BNIP-2 and Cdc42GAP homology domain-containing, proline-rich and Cdc42GAP-like protein subtype-1; rho GTPase-activating protein 8 isoform 1; rho-type GTPase-activating protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:23779); (R-HSA-8980692)", "pathway_count": 2, "publication_count": 165, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;11058585;11085924;11207612;11237011;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12531887;12559566;12650940;12857875;12877655;12944407;14512443;15023524;15064355;15107133;15225876;15302923;15342493;15485661;15601624;15611138;15850391;15866170;16112081;16116428;16184169;16217026;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;17077126;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18477386;18691976;18829452;19494238;19605563;19635168;19673492;19713215;20030946;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21454492;21565175;21699497;21865595;21936715;22096251;22298643;22305756;22673745;22911862;22992742;23200924;23255595;23434736;23572525;23870313;24086303;24128008;24259668;24335996;24352656;24933155;25211221;25704760;26371245;26529257;26887924;27145964;27216196;27481945;27986909;28092672;28112683;28196833;28584191;29146911;29391396;30315122;31105010;31871319;32203420;33981976;35494241;36598812;7479768;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9305890;9418861;9490638;9497316;9535835;9548756;9659915;9670022;9792683;9822605;9829970", "class_list": "", "function": "BPGAP1 has a role in regulating cell dynamics with BNIP-2 and Cdc42GAP homology/Sec14p-like, proline-rich, and GTPase-activating protein domains of BPGAP1, [RefSeq, PubMed]; BPGAP1 provides a crucial spatiotemporal checkpoint where JNK and MP1/MEK1 work in concert to regulate endosomal and nuclear ERK signaling in cell proliferation control., [RefSeq, PubMed]; Fusion protein PRR5-ARHGAP8 plays a role in bipolar disorder with binge eating behavior. Publication Status: Online-Only, [RefSeq, PubMed]; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state., [UniProtKB]; RhoGAP functionally interacts with cortactin and represents a novel determinant in the regulation of cell dynamics., [RefSeq, PubMed]; The scaffold RhoGAP protein ARHGAP8/BPGAP1 synchronizes Rac and Rho signaling to facilitate cell migration., [RefSeq, PubMed]; This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GDP-bound) state based on the GTP:GDP ratio in the cell. This family member is a multidomain protein that functions to promote Erk activation and cell motility. Alternative splicing results in multiple transcript variants. Read-through transcripts from the upstream proline rich 5, renal (PRR5) gene into this gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]., [RefSeq]; This paper compares the protein sequences and genomic structures of human and mouse ARHGAP8., [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6ZJ79;A6ZJ80;O75983;O95695;Q96RW1;Q96RW2;Q9HA49;Q9HC46;Q9NSG0;Q9NVX8;Q9NXL1;Q9UH20", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0007264 small GTPase-mediated signal transduction;GO:2001136 negative regulation of endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 16.6, "record_id": "P85298-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y225-1", "uniprot_id": "RNF24_HUMAN", "mass": 17210.0, "length": 148, "protein_name": "RING finger protein 24", "gene_name": "RNF24", "organism": "Human", "refseq_name": "RING finger protein 24 isoform 1", "refseq_ac": "NP_001127809", "gene_names_uniprotkb": "RNF24", "gene_names_refseq": "G1L; RNF24", "protein_names_uniprotkb": "RING finger protein 24", "protein_names_refseq": "RING finger protein 24 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:11237)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "17850865;29242379;30484775;31154438;31848261;32157095;32938616;32983136;33592498;34357683;34509645;35251023", "class_list": "", "function": "May play a role in TRPCs intracellular trafficking., [UniProtKB, PubMed]; Results indicate that RNF24 interacts with TRPC cation channels in the Golgi apparatus and affects TRPC intracellular trafficking without affecting their activity., [RefSeq, PubMed]; This gene encodes an integral membrane protein that contains a RING-type zinc finger. The encoded protein may interact with multiple transient receptor potential cation channel subfamily C (TRPC) proteins and regulate the trafficking and insertion of these proteins into the plasma membrane. [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": 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": "D3DVZ2;D3DVZ3;Q9UMH1", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9Y225-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96QD8-1", "uniprot_id": "S38A2_HUMAN", "mass": 56026.0, "length": 506, "protein_name": "Sodium-coupled neutral amino acid symporter 2", "gene_name": "SLC38A2", "organism": "Human", "refseq_name": "sodium-coupled neutral amino acid symporter 2 isoform 2", "refseq_ac": "NP_001294865", "gene_names_uniprotkb": "SLC38A2; ATA2; KIAA1382; SAT2; SNAT2", "gene_names_refseq": "ATA2; PRO1068; SAT2; SLC38A2; SNAT2", "protein_names_uniprotkb": "Sodium-coupled neutral amino acid symporter 2; Amino acid transporter A2; Protein 40-9-1; Solute carrier family 38 member 2; System A amino acid transporter 2; System A transporter 1; System N amino acid transporter 2", "protein_names_refseq": "amino acid transporter 2; amino acid transporter A2; protein 40-9-1; sodium-coupled neutral amino acid symporter 2 isoform 2; sodium-coupled neutral amino acid symporter 2; sodium-coupled neutral amino acid transporter 2; system A amino acid transporter 2; system A transporter 1; system N amino acid transporter 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54407); (R-HSA-210500); (R-HSA-352230)", "pathway_count": 3, "publication_count": 155, "publication_id_list": "10358010;10391915;10440375;10485994;10620514;10698697;10823827;10863037;10891391;10903140;10930503;11001057;11015561;11237011;11242046;11243884;11278508;11318953;11342143;11417227;11591158;11756489;11827462;12202949;12519779;12527723;12809675;12930836;14623874;15151999;15581851;15659399;15774260;15918515;15922329;15935055;15951569;16116111;16616430;16621798;17016520;17081983;17389395;17478680;17891149;17989281;18195088;18215623;18452278;18507432;18578522;18669648;18707149;19413330;19690332;20068231;21097500;22299025;23186163;23481700;24578174;24652292;24714562;24715725;25418920;25502872;25576301;25645385;25880248;25892735;26374858;26375851;26728094;26929215;26992070;27920218;28228285;28467828;28514659;28649982;28832583;28871256;28904123;29242379;29314611;29317506;29493099;29557506;29632711;29769354;30192525;30315122;30429286;30484775;30573663;30626607;30779550;30833945;31154438;31530632;31611695;31717259;31844290;31848261;3214421;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33091337;33214551;33392160;33592498;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34433824;34509645;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36215666;36241641;36918802;37005877;37054944;37938771;37957724;38665916;38949026;7589472;8010975;8101838;8340364;8702519;8910405;9174363;9701566;9878049", "class_list": "", "function": "CHOP upregulation and dysregulation of the mature form of the SNAT2 amino acid transporter in the placentas from small for gestational age newborns. Publication Status: Online-Only, [RefSeq, PubMed]; Comprehensive analysis of the biological function and immune infiltration of SLC38A2 in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Hsa_circRNA_001859 regulates pancreatic cancer progression and epithelial-mesenchymal transition through the miR-21-5p/SLC38A2 pathway., [RefSeq, PubMed]; SNAT2 amino acid response element, along with a nearby conserved CAAT box, has enhancer activity and it confers regulated transcription to a heterologous promoter, [RefSeq, PubMed]; Single-cell RNA sequencing reveals XBP1-SLC38A2 axis as a metabolic regulator in cytotoxic T lymphocytes in multiple myeloma., [RefSeq, PubMed]; Symporter that cotransports neutral amino acids and sodium ions from the extracellular to the intracellular side of the cell membrane (PubMed:10930503, PubMed:15774260, PubMed:15922329, PubMed:16621798). The transport is pH-sensitive, Li(+)-intolerant, electrogenic, driven by the Na(+) electrochemical gradient and cotransports of neutral amino acids and sodium ions with a stoichiometry of 1:1. May function in the transport of amino acids at the blood-brain barrier (PubMed:10930503, PubMed:15774260). May function in the transport of amino acids in the supply of maternal nutrients to the fetus through the placenta (By similarity). Maintains a key metabolic glutamine/glutamate balance underpinning retrograde signaling by dendritic release of the neurotransmitter glutamate (By similarity). Transports L-proline in differentiating osteoblasts for the efficient synthesis of proline-enriched proteins and provides proline essential for osteoblast differentiation and bone formation during bone development (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The synthesis of SNAT2 is required for the hypertonic stimulation of system A transport activity., [RefSeq, PubMed]; UBE2C-induced crosstalk between mono- and polyubiquitination of SNAT2 promotes lymphatic metastasis in bladder cancer. 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": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6IA88;Q6ZMG2;Q9HAV3;Q9NVA8;Q9P2G5", "ec_number_list": "", "go_molecular_function": "GO:0005298 proline:sodium symporter activity;GO:0015171 amino acid transmembrane transporter activity;GO:0015186 L-glutamine transmembrane transporter activity;GO:0015194 L-serine transmembrane transporter activity;GO:0005283 amino acid:sodium symporter activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005903 brush border;GO:0030424 axon;GO:0030425 dendrite", "go_biological_process": "GO:0033120 positive regulation of RNA splicing;GO:0015824 proline transport;GO:0015825 L-serine transport;GO:0031460 glycine betaine transport;GO:0032328 alanine transport", "synthesized_glycan_count": 0, "hit_score": 15.8, "record_id": "Q96QD8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZW8-1", "uniprot_id": "TENS4_HUMAN", "mass": 76764.0, "length": 715, "protein_name": "Tensin-4", "gene_name": "TNS4", "organism": "Human", "refseq_name": "tensin-4 precursor", "refseq_ac": "NP_116254", "gene_names_uniprotkb": "TNS4; CTEN; PP14434", "gene_names_refseq": "CTEN; PP14434; TNS4", "protein_names_uniprotkb": "Tensin-4; C-terminal tensin-like protein", "protein_names_refseq": "C terminal tensin like; C-terminal tensin-like protein; tensin-4 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:84951); (R-HSA-8875513)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "11237011;12154022;12711115;15001839;15498874;15806167;16959974;17190795;17643115;18691976;19214987;19487278;20068231;23774213;24814316;25576301;27862975;28691764;29242379;29331515;29393594;29557506;29786170;29789417;30321615;30484775;31492838;32488085;33968037;33981976;34171305;34817293;35051231;35254053;35318648;35580925;36010968;36215666;36241641;36281194;36284347;36399312;36896596;38942137;39302247;39894887", "class_list": "", "function": "CTEN Inhibits Tumor Angiogenesis and Growth by Targeting VEGFA Through Down-Regulation of beta-Catenin in Breast Cancer., [RefSeq, PubMed]; Cten/GAPDH mRNA expression was correlated with evidence of tumor progression in thymoma., [RefSeq, PubMed]; Epigenetic Activation of Tensin 4 Promotes Gastric Cancer Progression., [RefSeq, PubMed]; GPRC5A promotes gallbladder cancer metastasis by upregulating TNS4 via the JAK2-STAT3 pathway., [RefSeq, PubMed]; Increased cten mRNA expression was correlated with tumor progression in lung cancers, [RefSeq, PubMed]; Mining TCGA and GEO databases for the prediction of poor prognosis in lung adenocarcinoma based on up-regulated expression of TNS4., [RefSeq, PubMed]; Nuclear-localized CTEN is a novel transcriptional regulator and promotes cancer cell migration through its downstream target CDC27., [RefSeq, PubMed]; Promotes EGF-induced cell migration by displacing tensin TNS3 from the cytoplasmic tail of integrin ITGB1 which results in dissociation of TNS3 from focal adhesions, disassembly of actin stress fibers and initiation of cell migration (PubMed:17643115). Suppresses ligand-induced degradation of EGFR by reducing EGFR ubiquitination in the presence of EGF (PubMed:23774213). Increases MET protein stability by inhibiting MET endocytosis and subsequent lysosomal degradation which leads to increased cell survival, proliferation and migration (PubMed:24814316)., [UniProtKB, 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": 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": 9, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 35, "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": "A6NMJ7;Q71RB7;Q8WV64;Q96JV4", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005925 focal adhesion", "go_biological_process": "GO:0008104 intracellular protein localization", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q8IZW8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49754-1", "uniprot_id": "VPS41_HUMAN", "mass": 98566.0, "length": 854, "protein_name": "Vacuolar protein sorting-associated protein 41 homolog", "gene_name": "VPS41", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 41 homolog isoform 1", "refseq_ac": "NP_055211", "gene_names_uniprotkb": "VPS41", "gene_names_refseq": "HVPS41; HVSP41; SCAR29; VPS41; hVps41p", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 41 homolog; S53", "protein_names_refseq": "S53; VPS41, HOPS complex subunit; vacuolar assembly protein 41; vacuolar protein sorting 41 homolog; vacuolar protein sorting-associated protein 41 homolog isoform 1; vacuolar protein sorting-associated protein 41 homolog", "tax_id": 9606, "disease": "autosomal recessive spinocerebellar ataxia 29 (Disease Ontology:DOID:0070410); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:27072); (R-HSA-9754560)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "11237011;19850127;20434987;21411634;21802320;21993680;22323726;23167963;23322049;23351085;23481700;24210660;24714562;24715725;25418920;25445562;25576301;25645385;25783203;25880248;25892735;25908847;26154972;26728094;26811146;26929215;26992070;27397612;27600516;27846572;27920218;28218747;28228285;28325809;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30429286;30524438;30779550;30833945;31154438;31217245;31844290;31848261;31937595;32157095;32357974;32387766;32488085;32502341;32808683;32897882;32938616;32983136;33141586;33298915;33392160;33422265;33537174;33592498;33691108;33717175;33764426;33851776;33912179;33936100;33947832;33966045;33968037;33981976;34171305;34185709;34211107;34386498;34509645;34561969;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37821429;37938771;7596406;9159129", "class_list": "", "function": "Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation., [RefSeq, PubMed]; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Acts as a component of the HOPS endosomal tethering complex. This complex is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes (PubMed:23351085, PubMed:33851776). Involved in homotypic vesicle fusions between late endosomes and in heterotypic fusions between late endosomes and lysosomes implicated in degradation of endocytosed cargo (PubMed:23167963, PubMed:25445562, PubMed:25908847, PubMed:9159129). Required for fusion of autophagosomes with lysosomes (PubMed:25783203, PubMed:37821429). Links the HOPS complex to endosomal Rab7 via its association with RILP and to lysosomal membranes via its association with ARL8B, suggesting that these interactions may bring the compartments to close proximity for fusion (PubMed:21802320, PubMed:25445562, PubMed:25908847). Involved in the direct trans-Golgi network to late endosomes transport of lysosomal membrane proteins independently of HOPS (PubMed:23322049). Involved in sorting to the regulated secretory pathway presumably implicating the AP-3 adapter complex (By similarity). May play a role in HOPS-independent function in the regulated secretory pathway (PubMed:24210660)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [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": 9, "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": "E9PF36;Q86TP8;Q99851;Q99852", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0043495 protein-membrane adaptor activity", "go_cellular_component": "GO:0030897 HOPS complex;GO:0005794 Golgi apparatus;GO:0005798 Golgi-associated vesicle;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0007034 vacuolar transport;GO:0035542 regulation of SNARE complex assembly;GO:0016236 macroautophagy;GO:0008333 endosome to lysosome transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "P49754-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UPQ7-1", "uniprot_id": "PZRN3_HUMAN", "mass": 119596.0, "length": 1066, "protein_name": "E3 ubiquitin-protein ligase PDZRN3", "gene_name": "PDZRN3", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase PDZRN3 isoform 2", "refseq_ac": "NP_001290068", "gene_names_uniprotkb": "PDZRN3; KIAA1095; LNX3; SEMCAP3", "gene_names_refseq": "LNX3; PDZRN3; SEMACAP3; SEMCAP3", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase PDZRN3; 2.3.2.27; Ligand of Numb protein X 3; PDZ domain-containing RING finger protein 3; Protein SEMACAP3; RING-type E3 ubiquitin transferase PDZRN3; Semaphorin cytoplasmic domain-associated protein 3", "protein_names_refseq": "E3 ubiquitin-protein ligase PDZRN3 isoform 2; E3 ubiquitin-protein ligase PDZRN3; RING-type E3 ubiquitin transferase PDZRN3; ligand of Numb protein X 3; likely ortholog of mouse semaF cytoplasmic domain associated protein 3; semaphorin cytoplasmic domain-associated protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:23024)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;15010864;15305371;17118964;18452278;19664994;20668165;25355882;25576301;29557506;29786170;30429286;31098988;31844290;31848261;32157095;32488085;32938616;33141586;33592498;35051231;35561310;35580925;36215666;36284347;38471344", "class_list": "", "function": "Authors show that HPV-16 and HPV-18 E6 can target PDZRN3 in a PDZ- and proteasome-dependent manner and provide a connection between the papillomavirus life cycle and differentiation-related STAT signaling., [RefSeq, PubMed]; E3 ubiquitin-protein ligase. Plays an important role in regulating the surface level of MUSK on myotubes. Mediates the ubiquitination of MUSK, promoting its endocytosis and lysosomal degradation. Might contribute to terminal myogenic differentiation., [UniProtKB, UniProtKB]; Granulysin-mediated reduction of PDZRN3 induces Cx43 gap junctions activity exacerbating skin damage in trichloroethylene hypersensitivity syndrome., [RefSeq, PubMed]; PDZRN3 may regulate SMCT1 function by interfering with the interaction between SMCT1 and PDZK1., [RefSeq, PubMed]; These results indicate that PDZRN3 plays an important role in negative feedback control of BMP-2-induced osteoblast differentiation in C2C12 cells through inhibition of Wnt3a-beta-catenin signaling., [RefSeq, PubMed]; This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [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": 49, "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": "A7MCZ6;Q8N2N7;Q96CC2;Q9NSQ2", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0031594 neuromuscular junction", "go_biological_process": "GO:0007528 neuromuscular junction development;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9UPQ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13472-1", "uniprot_id": "TOP3A_HUMAN", "mass": 112372.0, "length": 1001, "protein_name": "DNA topoisomerase 3-alpha", "gene_name": "TOP3A", "organism": "Human", "refseq_name": "DNA topoisomerase 3-alpha isoform 2", "refseq_ac": "NP_001307688", "gene_names_uniprotkb": "TOP3A; TOP3", "gene_names_refseq": "MGRISCE2; PEOB5; TOP3A; TOP3; ZGRF7", "protein_names_uniprotkb": "DNA topoisomerase 3-alpha; 5.6.2.1; DNA topoisomerase III alpha", "protein_names_refseq": "DNA topoisomerase 3-alpha isoform 2; DNA topoisomerase 3-alpha; topo III-alpha; topoisomerase (DNA) III alpha; zinc finger, GRF-type containing 7", "tax_id": 9606, "disease": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 (Disease Ontology:DOID:0111524); microcephaly, growth restriction, and increased sister chromatid exchange 2 (MONDO:MONDO:0020628)", "pathway": " (hsa:7156); (R-HSA-5685938); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693554); (R-HSA-5693568); (R-HSA-5693579); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6804756); (R-HSA-69473); (R-HSA-912446); (R-HSA-9701192); (R-HSA-9704331); (R-HSA-9704646); (R-HSA-9709570); (R-HSA-9709603); (R-HSA-9913635)", "pathway_count": 18, "publication_count": 301, "publication_id_list": "10.1101/2023.09.13.557529;10029069;10212258;10373512;10435622;10438626;10497183;10500146;10551859;10562567;10570149;10570174;10604467;10608893;10673500;10673501;10677218;10710310;10728666;10733923;10734115;10744977;10801132;10856253;10859164;10884347;10921897;10928988;11006276;11080452;11139606;11237011;11239457;11292842;11301010;11376695;11390642;11447225;11459987;11511362;11546806;11551930;11571269;11698410;11740489;11751635;11780126;11832208;12064478;12139939;12152085;12191481;12226092;12228710;12370410;12379650;12393879;12545175;12578958;12686547;12702766;12721304;12750383;12791985;12851404;12912992;12914926;14527420;14576433;14702041;14716019;14734547;15053879;15164066;15167897;15189136;15190204;15304223;15359272;15485900;15665856;15703751;15707391;15775963;15866171;15916957;16123081;16148040;16153896;16292313;16322221;16322561;16327781;16337601;16360315;16530042;16793542;16885023;17108107;17114795;17200668;17200671;17200672;17289582;17349958;17420451;17515903;17541404;17575048;17591690;17928296;17962301;17965729;17977839;17981954;17996710;17996711;18171670;18187503;18256600;18317453;18490454;18535008;18539610;18541667;18669648;18685103;18757400;18805091;18923075;18923082;18923083;18957201;18971343;19074197;19121998;19268590;19357644;19369211;19419957;19584259;19596236;19609323;19837034;19941829;19965871;20044539;20044541;20062530;20154705;20166139;20207730;20233725;20445207;20729832;20729858;20729859;20818382;20843780;20871615;20871616;20959462;20965415;21052091;21240188;21263215;21317932;21325134;21335604;21520333;21565612;21659603;21680713;21777809;21804533;21953457;22021381;22024395;22194698;22231403;22383523;22593209;22635276;22645308;22661229;22661230;22792074;22977173;23000554;23149936;23345434;23468639;23481700;23485397;23509288;23676219;23686288;23731732;23754376;23810717;24013206;24076221;24141787;24145406;24371268;24485656;24509834;24831703;24874608;25113031;25122754;25558984;25576301;25635099;25659039;26145171;26253742;26375851;26992070;27220468;27226550;27600516;27846572;27899578;28089683;28158555;28228285;28240985;28319063;28832583;28834231;28904123;29165669;29242379;29290614;29393594;29493099;29557506;29608566;29632046;30057030;30102370;30247721;30256971;30289697;30311374;30315122;30429286;30605451;30949702;31586400;31636395;31757951;31844290;31848261;31998317;32157095;32387766;32488085;32732220;32938616;33195396;33298915;33691108;33717175;33847964;33912179;33936100;33968037;33978741;34087483;34171305;34405274;34440403;34509645;35051231;35561310;35580925;35819194;35920001;35947649;36172813;36215039;36241641;36528058;36529288;36744436;37013609;37217939;37592734;8622991;8702565;8929543;9008167;9311981;9450758;9705271;9781043;9826763;9837724;9925639", "class_list": "", "function": "Introduces a single-strand break via transesterification at a target site in duplex DNA. Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability., [RefSeq, PubMed]; Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand. The free DNA strand then undergoes passage around the unbroken strand thus removing DNA supercoils. Finally, in the religation step, the DNA 3'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone. As an essential component of the RMI complex it is involved in chromosome separation and the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Has DNA decatenation activity (PubMed:30057030). It is required for mtDNA decatenation and segregation after completion of replication, in a process that does not require BLM, RMI1 and RMI2 (PubMed:29290614)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; TOP3A amplification and ATRX inactivation are mutually exclusive events in pediatric osteosarcomas using ALT., [RefSeq, PubMed]; The MRN complex and topoisomerase IIIa-RMI1/2 synchronize DNA resection motor proteins., [RefSeq, PubMed]; This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]., [RefSeq]; Two type I topoisomerases maintain DNA topology in human mitochondria., [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": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 18, "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": "A8KA61;B4DK80;D3DXC7;Q13473", "ec_number_list": "2.7.11.1;2.7.11.22;6.5.1.1;2.7.7.7;3.1.11.-;2.3.2.27;3.1.-.-;5.6.2.4;3.6.4.-;5.6.2.1;3.6.-.-;2.3.1.48;2.3.1.-;3.1.22.-;3.1.11.2;5.6.2.3;5.6.2.-", "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0003697 single-stranded DNA binding;GO:0003917 DNA topoisomerase type I (single strand cut, ATP-independent) activity;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0016605 PML body", "go_biological_process": "GO:0006281 DNA repair;GO:0006310 DNA recombination;GO:0000724 double-strand break repair via homologous recombination;GO:0006265 DNA topological change;GO:0051304 chromosome separation", "synthesized_glycan_count": 0, "hit_score": 30.6, "record_id": "Q13472-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q17R89-1", "uniprot_id": "RHG44_HUMAN", "mass": 89247.0, "length": 818, "protein_name": "Rho GTPase-activating protein 44", "gene_name": "ARHGAP44", "organism": "Human", "refseq_name": "rho GTPase-activating protein 44 isoform 3", "refseq_ac": "NP_001308095", "gene_names_uniprotkb": "ARHGAP44; KIAA0672; RICH2", "gene_names_refseq": "ARHGAP44; NPC-A-10; RICH2", "protein_names_uniprotkb": "Rho GTPase-activating protein 44; NPC-A-10; RICH-2; Rho-type GTPase-activating protein RICH2; RhoGAP interacting with CIP4 homologs protein 2", "protein_names_refseq": "Rho-type GTPase-activating protein RICH2; RhoGAP interacting with CIP4 homologs protein 2; rho GTPase-activating protein 44 isoform 3; rho GTPase-activating protein 44; rho GTPase-activating protein RICH2", "tax_id": 9606, "disease": "lung carcinoma (Disease Ontology:DOID:3905); acquired immunodeficiency syndrome (Disease Ontology:DOID:635); hepatocellular carcinoma (Disease Ontology:DOID:684); skin melanoma (Disease Ontology:DOID:8923)", "pathway": " (hsa:9912); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 4, "publication_count": 316, "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;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18786931;18829452;18835169;18838382;18929667;19269969;19273615;19494238;19605563;19635168;19673492;19713215;19934221;20030946;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21107268;21148482;21351730;21454492;21542010;21565175;21613211;21685891;21699497;21730051;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22673745;22734669;22911862;22970203;22992742;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24584464;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25576301;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26371245;26529257;26598554;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27986909;28028151;28112683;28114311;28196833;28584191;28825699;28860633;29089502;29146911;29358323;29382922;29557506;30061681;30853411;31105010;31136984;31844290;31871319;32203420;33223223;35051231;37926169;38031136;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;9438849;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9792683;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "ARHGAP44-mediated regulation of the p53/C-myc/Cyclin D1 pathway in modulating the malignant biological behavior of osteosarcoma cells. Erratum:[J Orthop Surg Res. 2023 Dec 18;18(1):972. doi: 10.1186/s13018-023-04454-5. PMID: 38105224] Publication Status: Online-Only, [RefSeq, PubMed]; Besides the already known chromosome 6 associations, the analysis of low-frequency single nucleotide polymorphisms brought up a new association in the RICH2 gene for progression to AIDS., [RefSeq, PubMed]; CD317 mediates immunocytolysis resistance by RICH2/cytoskeleton-dependent membrane protection., [RefSeq, PubMed]; Demonstrates that the RhoGAP domains of RICH-1 and RICH-2 can catalyze GTP hydrolysis of both Rac1 and Cdc42, but not of RhoA., [RefSeq, PubMed]; GTPase-activating protein (GAP) that stimulates the GTPase activity of Rho-type GTPases. Thereby, controls Rho-type GTPases cycling between their active GTP-bound and inactive GDP-bound states. Acts as a GAP at least for CDC42 and RAC1 (PubMed:11431473). In neurons, is involved in dendritic spine formation and synaptic plasticity in a specific RAC1-GAP activity (By similarity). Limits the initiation of exploratory dendritic filopodia. Recruited to actin-patches that seed filopodia, binds specifically to plasma membrane sections that are deformed inward by acto-myosin mediated contractile forces. Acts through GAP activity on RAC1 to reduce actin polymerization necessary for filopodia formation (By similarity). In association with SHANK3, promotes GRIA1 exocytosis from recycling endosomes and spine morphological changes associated to long-term potentiation (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Knocking down expression of RICH 2 causes loss of the apical actin network and apical microvilli, an increase in actin bundles at the basal surface, and a reduction in cell height. (RICH 2 protein), [RefSeq, PubMed]; RICH2 decreases the mitochondrial number and affects mitochondrial localization in diffuse low-grade glioma-related epilepsy., [RefSeq, PubMed]; Rho GTPase-activating protein RICH2 (RICH2) is downregulated in hepatocellular carcinoma (HCC). 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 18, "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": "A6NCP5;A8MQB2;O75160;Q7Z5Z7;Q9Y4Q4", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005543 phospholipid binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0030425 dendrite", "go_biological_process": "GO:0007165 signal transduction;GO:0032956 regulation of actin cytoskeleton organization;GO:0043087 regulation of GTPase activity;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0050804 modulation of chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 31.7, "record_id": "Q17R89-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IWW6-1", "uniprot_id": "RHG12_HUMAN", "mass": 96254.0, "length": 846, "protein_name": "Rho GTPase-activating protein 12", "gene_name": "ARHGAP12", "organism": "Human", "refseq_name": "rho GTPase-activating protein 12 isoform 2", "refseq_ac": "NP_001257624", "gene_names_uniprotkb": "ARHGAP12", "gene_names_refseq": "ARHGAP12", "protein_names_uniprotkb": "Rho GTPase-activating protein 12; Rho-type GTPase-activating protein 12", "protein_names_refseq": "rho GTPase-activating protein 12 isoform 2; rho GTPase-activating protein 12; rho-type GTPase-activating protein 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:94134); (R-HSA-9013149); (R-HSA-9013405); (R-HSA-9013424); (R-HSA-9035034)", "pathway_count": 5, "publication_count": 295, "publication_id_list": "10.1101/2023.09.13.557529;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10873802;10958683;11007481;11058585;11085924;11149925;11237011;11373293;11396949;11431473;11432776;11584276;11672528;11704860;11707441;11756552;11773441;11784792;11803464;11804587;11804589;11804590;11854031;11884391;11912491;11961559;12071859;12093360;12096337;12195014;12221096;12351724;12432077;12531887;12546821;12547822;12577064;12650940;12665586;12857875;12877655;12923183;14512443;14514689;14521508;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15144186;15147912;15302923;15339924;15342493;15345747;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;17064668;17077126;17081983;17145773;17196961;17214551;17244649;17355222;17583407;17599059;17702745;17765681;17804252;17916560;17976533;18006505;18045877;18218625;18249095;18347018;18396277;18426980;18452278;18504429;18653540;18669648;18838382;19269969;19413330;19415658;19494238;19605563;19651622;19673492;19690332;19713215;19934221;20068231;20233848;20400958;20460433;20679435;20810653;21119010;21148482;21406692;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22298643;22339630;22407364;22475431;22544926;22608513;22665057;22734669;22869377;22970203;23087206;23096567;23186163;23209303;23255595;23288169;23434736;23481700;23572525;23707487;23718289;23940355;24086303;24102721;24259668;24275569;24335996;24352656;24715725;24859002;24933155;24960694;25024229;25211221;25428919;25576301;25668492;25704760;25721503;25746724;25795300;25862245;26129894;26154972;26529257;26768311;26887924;26992070;27117132;27145964;27216196;27278019;27481945;27555588;27566826;27600516;27713499;27806292;27852748;28114311;28196833;28486133;28832583;28904123;28947137;29089502;29358323;29382922;29393594;29485866;29493099;29557506;29776664;29786170;30853411;31844290;31871319;32157095;32203420;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34509645;35051231;35251023;35580925;36010968;36215666;36241641;37938771;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8945468;8990121;8994827;9013646;9099726;9113980;9305890;9438849;9490638;9497316;9582072;9659915;9670022;9778532;9792683;9822598;9843499;9988689", "class_list": "", "function": "GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state., [UniProtKB]; Met-driven invasive growth involves transcriptional regulation of Arhgap12. GeneRIF: ARHGAP12 inactivates RAC1, thereby impairing cell motility, invasion and adhesion to the extracellular matrix. The gene is transcriptionally suppressed by Hepatocyte Growth Factor in vitro., [RefSeq, PubMed]; Molecular cloning and characterization of ARHGAP12, [RefSeq, PubMed]; This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms 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": 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": 17, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "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": "B1ANY0;B1ANY1;B1ANY2;Q504X1;Q86UB3;Q8IWW7;Q8N3L1;Q9NT76", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0001891 phagocytic cup;GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0006911 phagocytosis, engulfment;GO:0007015 actin filament organization;GO:0051058 negative regulation of small GTPase mediated signal transduction;GO:0007264 small GTPase-mediated signal transduction;GO:0002011 morphogenesis of an epithelial sheet", "synthesized_glycan_count": 0, "hit_score": 30.0, "record_id": "Q8IWW6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3MIN7-1", "uniprot_id": "RGL3_HUMAN", "mass": 78119.0, "length": 710, "protein_name": "Ral guanine nucleotide dissociation stimulator-like 3", "gene_name": "RGL3", "organism": "Human", "refseq_name": "ral guanine nucleotide dissociation stimulator-like 3 isoform 2", "refseq_ac": "NP_001030300", "gene_names_uniprotkb": "RGL3", "gene_names_refseq": "RGL3", "protein_names_uniprotkb": "Ral guanine nucleotide dissociation stimulator-like 3; RalGDS-like 3", "protein_names_refseq": "RalGEF-like protein 3, mouse homolog; ral guanine nucleotide dissociation stimulator-like 3 isoform 2; ralGDS-like 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:57139); (R-HSA-5673001)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10508167;10869344;11027663;11090077;11136978;11237011;11313946;11546808;11702783;12032311;12094235;12121613;14506247;14707138;15356145;1545823;15546878;16627759;16684964;1716764;17998941;18669648;18775330;1898771;19279408;19920141;20068231;20478380;21102635;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23103841;23186163;23303910;23443682;23575685;24275569;24897931;24937142;25219551;25576301;25781681;26085527;28778966;30779550;31135801;31154438;38253038;6148751;7809086;7935463;7972015;8052307;8394845;8493579;8665852;8710374;8939933;9604935;9927426", "class_list": "", "function": "Guanine nucleotide exchange factor (GEF) for Ral-A. Potential effector of GTPase HRas and Ras-related protein M-Ras. Negatively regulates Elk-1-dependent gene induction downstream of HRas and MEKK1 (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": 8, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A0MRX4;B5ME84;B7ZL22;Q0P6G0", "ec_number_list": "", "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007265 Ras protein signal transduction;GO:0007264 small GTPase-mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q3MIN7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UHV5-1", "uniprot_id": "RPGFL_HUMAN", "mass": 73265.0, "length": 662, "protein_name": "Rap guanine nucleotide exchange factor-like 1", "gene_name": "RAPGEFL1", "organism": "Human", "refseq_name": "rap guanine nucleotide exchange factor-like 1 isoform 1", "refseq_ac": "NP_001290462", "gene_names_uniprotkb": "RAPGEFL1", "gene_names_refseq": "Link-GEFII; RAPGEFL1", "protein_names_uniprotkb": "Rap guanine nucleotide exchange factor-like 1; Link GEFII; Link guanine nucleotide exchange factor II", "protein_names_refseq": "Link guanine nucleotide exchange factor II; Rap guanine nucleotide exchange factor (GEF)-like 1; link GEFII; rap guanine nucleotide exchange factor-like 1 isoform 1; rap guanine nucleotide exchange factor-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51195)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;29351928;32357974;32387766;32502341;33537174;35051231;36241641;38253038;39894887", "class_list": "", "function": "Probable guanine nucleotide exchange factor (GEF)., [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": 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": 6, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0032486 Rap protein signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007399 nervous system development;GO:0007264 small GTPase-mediated signal transduction;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9UHV5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PJF5-1", "uniprot_id": "RHDF2_HUMAN", "mass": 96686.0, "length": 856, "protein_name": "Inactive rhomboid protein 2", "gene_name": "RHBDF2", "organism": "Human", "refseq_name": "inactive rhomboid protein 2 isoform 2", "refseq_ac": "NP_001005498", "gene_names_uniprotkb": "RHBDF2; IRHOM2; RHBDL5; RHBDL6", "gene_names_refseq": "RHBDF2; RHBDL5; RHBDL6; TOCG; TOC; iRhom2", "protein_names_uniprotkb": "Inactive rhomboid protein 2; Rhomboid 5 homolog 2; Rhomboid family member 2; Rhomboid veinlet-like protein 5; Rhomboid veinlet-like protein 6; iRhom2", "protein_names_refseq": "inactive rhomboid protein 2 isoform 2; inactive rhomboid protein 2; rhomboid family member 2; rhomboid veinlet-like protein 5; rhomboid veinlet-like protein 6", "tax_id": 9606, "disease": "palmoplantar keratoderma-esophageal carcinoma syndrome (Disease Ontology:DOID:0111506)", "pathway": " (hsa:79651); (R-HSA-9662834)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10.1101/2023.09.13.557529;10066432;10497257;10601018;10648003;10975989;11237011;11688984;12058067;12621058;12755693;14623079;15479433;18669648;19913121;20188673;20628086;20807704;22246777;22246778;22265016;22638770;22645359;23186163;23481700;24190977;24275664;24338472;25502872;25576301;25795784;25892735;26811146;26992070;27846572;28467828;28834231;28904123;29045841;29242379;29314611;29372562;29437277;29493099;29557506;29769354;30410026;30429286;30484775;31844290;31848261;32157095;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33123756;33592498;33633747;33717175;33912179;33936100;33968037;34078123;34171305;34357683;34433824;34561969;34932366;35051231;35154160;35251023;35318648;35494241;35561310;35580925;36215666;37271223;37544908;38183983;38570362;38781971;8921966;9520379;9523318", "class_list": "", "function": "Cleavage of the pseudoprotease iRhom2 by the signal peptidase complex reveals an ER-to-nucleus signaling pathway., [RefSeq, PubMed]; Cryo-EM reveals that iRhom2 restrains ADAM17 protease activity to control the release of growth factor and inflammatory signals., [RefSeq, PubMed]; EGFR stimulation enables IL-6 trans-signalling via iRhom2-dependent ADAM17 activation in mammary epithelial cells., [RefSeq, PubMed]; IRhom2 regulates ectodomain shedding and surface expression of the major histocompatibility complex (MHC) class I. Publication Status: Online-Only, [RefSeq, 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]; Palmitoyltransferase ZDHHC3 Aggravates Nonalcoholic Steatohepatitis by Targeting S-Palmitoylated IRHOM2. Erratum:[Adv Sci (Weinh). 2023 Dec;10(36):e2308024. doi: 10.1002/advs.202308024. PMID: 38153358], [RefSeq, PubMed]; Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own., [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": 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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 9562, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NEM3;A8K801;Q5U607;Q5YGQ8;Q9H6E9", "ec_number_list": "", "go_molecular_function": "GO:0019838 growth factor binding;GO:0140318 protein transporter activity;GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0050709 negative regulation of protein secretion;GO:0015031 protein transport;GO:0002862 negative regulation of inflammatory response to antigenic stimulus;GO:0050708 regulation of protein secretion;GO:0042058 regulation of epidermal growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q6PJF5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0AV02-1", "uniprot_id": "S12A8_HUMAN", "mass": 78239.0, "length": 714, "protein_name": "Solute carrier family 12 member 8", "gene_name": "SLC12A8", "organism": "Human", "refseq_name": "solute carrier family 12 member 8", "refseq_ac": "NP_001182412", "gene_names_uniprotkb": "SLC12A8; CCC9", "gene_names_refseq": "CCC9; SLC12A8", "protein_names_uniprotkb": "Solute carrier family 12 member 8; Cation-chloride cotransporter 9", "protein_names_refseq": "cation-chloride cotransporter 9; solute carrier family 12 (sodium/potassium/chloride transporters), member 8; solute carrier family 12 member 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:84561)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;11863360;16297188;19472210;23325410;23481700;25802875;27920218;28063628;28904123;29242379;29508533;29557506;29632046;29786170;31844290;32938616;33592498;34365894;35051231;35580925;37725242;37814877", "class_list": "", "function": "Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation., [UniProtKB, PubMed]; Maps to 3q21. Associated with suseptibility to psoriasis, [RefSeq, PubMed]; Molecular characterization of a human cation-Cl- cotransporter (SLC12A8A, CCC9A) that promotes polyamine and amino acid transport., [RefSeq, PubMed]; Review summarizes three human disorders that have been linked to the mutation/dysfunction of Na-Cl, Na-K-2Cl, and K-Cl cotransporters (Bartter's, Gitleman's, and Andermann's syndromes). Review article, [RefSeq, PubMed]; SLC12A8 is a susceptibility locus for psoriasis vulgaris. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SLC12A8 mediates TKI resistance in EGFR-mutant lung cancer via PDK1/AKT axis., [RefSeq, PubMed]; Solute carrier family 12 member 8 (SLC12A8) is a potential biomarker and related to tumor immune cell infiltration in bladder cancer., [RefSeq, PubMed]; This gene is thought to be a candidate for psoriasis susceptibility. 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, Sep 2010]., [RefSeq]; [SLC12A8 promotes proliferation, invasiveness, migration and epithelial-mesenchymal transition of bladder cancer cells by activating JAK/STAT singaling]., [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": 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": "C9JJJ2;Q68D04;Q6I9Z2;Q6P4C0;Q7Z3A6;Q86WK0;Q8NFX9;Q8WUI3;Q96RF9;Q9H5P9", "ec_number_list": "", "go_molecular_function": "GO:0015379 potassium:chloride symporter activity;GO:0015377 chloride:monoatomic cation symporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0006884 cell volume homeostasis;GO:1902476 chloride transmembrane transport;GO:0055075 potassium ion homeostasis;GO:1990573 potassium ion import across plasma membrane;GO:0055064 chloride ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "A0AV02-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P41440-1", "uniprot_id": "S19A1_HUMAN", "mass": 64868.0, "length": 591, "protein_name": "Reduced folate transporter", "gene_name": "SLC19A1", "organism": "Human", "refseq_name": "reduced folate transporter isoform 2", "refseq_ac": "NP_001192135", "gene_names_uniprotkb": "SLC19A1; FLOT1; RFC1", "gene_names_refseq": "CHMD; FOLT; IFC-1; IFC1; IMD114; MEGAF; REFC; RFC1; RFC; RFT-1; SLC19A1; hRFC; hSLC19A1", "protein_names_uniprotkb": "Reduced folate transporter; Cyclic dinucleotide:anion antiporter SLC19A1; FOLT; Folate:anion antiporter SLC19A1; IFC-1; Intestinal folate carrier 1; Placental folate transporter; RFC; RFT-1; Reduced folate carrier protein; Reduced folate transporter 1; Solute carrier family 19 member 1; hRFC; hSLC19A1", "protein_names_refseq": "cyclic dinucleotide:anion antiporter SLC19A1; folate transporter 1; folate:anion antiporter SLC19A1; intestinal folate carrier 1; placental folate transporter; reduced folate carrier 1; reduced folate carrier protein; reduced folate transporter 1; reduced folate transporter isoform 2; solute carrier family 19 (folate transporter), member 1", "tax_id": 9606, "disease": "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); megaloblastic anemia, folate-responsive (MONDO:MONDO:0011141)", "pathway": " (hsa:6573); (R-HSA-196757)", "pathway_count": 2, "publication_count": 104, "publication_id_list": "10091649;10347183;10787414;10978331;11237011;12937168;14609557;15337749;16115875;16171773;17129779;17308042;17962486;18669648;19413330;19424049;19664994;19948730;20068231;20498374;21163947;21238436;21876188;2248959;22554803;23186163;23409799;23481700;23934049;24715725;24733394;25502872;25505266;2605182;26992070;27846572;28218747;28467828;28514659;28832583;28904123;29242379;29314611;29493099;29508533;30315122;3053686;30626607;31126740;31154438;31511694;31530632;31844290;32157095;32161166;32276275;32350084;32357974;32423175;32488085;32502341;32658475;32897882;33053560;33163492;33392160;33592498;33912179;33936100;34171305;34357683;34433824;35051231;35154160;35251023;35561310;35580925;36010968;36071163;36265513;36517554;36575193;36745868;36999405;37201763;3801490;38669181;3871768;40307207;40596516;4066659;6323448;7615551;7641195;7726158;7826387;7852378;8218174;8522195;8662720;9041240;9602167;9753690;9767079", "class_list": "", "function": "Antiporter that mediates the import of reduced folates or a subset of cyclic dinucleotides, driven by the export of organic anions (PubMed:10787414, PubMed:15337749, PubMed:16115875, PubMed:22554803, PubMed:31126740, PubMed:31511694, PubMed:32276275, PubMed:36071163, PubMed:36265513, PubMed:36575193, PubMed:7826387, PubMed:9041240). Acts as an importer of immunoreactive cyclic dinucleotides, such as cyclic GMP-AMP (2'-3'-cGAMP), an immune messenger produced in response to DNA virus in the cytosol, and its linkage isomer 3'-3'-cGAMP, thus playing a role in triggering larger immune responses (PubMed:31126740, PubMed:31511694, PubMed:36745868). Mechanistically, acts as a secondary active transporter, which exports intracellular organic anions down their concentration gradients to facilitate the uptake of its substrates (PubMed:22554803, PubMed:31126740, PubMed:31511694). Has high affinity for N5-methyltetrahydrofolate, the predominant circulating form of folate (PubMed:10787414, PubMed:14609557, PubMed:22554803, PubMed:36071163, PubMed:36265513, PubMed:36575193). Also mediates the import of antifolate drug methotrexate (PubMed:22554803, PubMed:36071163, PubMed:7615551, PubMed:7641195, PubMed:9767079). 5-amino-4-imidazolecarboxamide riboside (AICAR), when phosphorylated to AICAR monophosphate, can serve as an organic anion for antiporter activity (PubMed:22554803)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Correlation between methylation level of the SLC19A1 promoter region and methotrexate metabolism in adult acute lymphoblastic leukemia., [RefSeq, PubMed]; Cryo-EM reveals a nearly complete PCNA loading process and unique features of the human alternative clamp loader CTF18-RFC., [RefSeq, PubMed]; Gender-specific association of SLC19A1 and MTHFR genetic polymorphism with oxidative stress biomarkers and plasma folate levels in older adults., [RefSeq, PubMed]; The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]., [RefSeq]; Transporter that mediates the import of reduced folates., [UniProtKB, 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": 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": 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": 43, "reported_glycation": 0, "reported_snv": 17, "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": "B2R7U8;B7Z8C3;E9PFY4;O00553;O60227;Q13026;Q9BTX8", "ec_number_list": "", "go_molecular_function": "GO:0015350 methotrexate transmembrane transporter activity;GO:0042910 xenobiotic transmembrane transporter activity;GO:0022857 transmembrane transporter activity;GO:0015297 antiporter activity;GO:0005542 folic acid binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane;GO:0031526 brush border membrane;GO:0016020 membrane", "go_biological_process": "GO:0051958 methotrexate transport;GO:0007565 female pregnancy;GO:0009636 response to toxic substance;GO:0015711 organic anion transport;GO:0006855 xenobiotic transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "P41440-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZS11-1", "uniprot_id": "RINL_HUMAN", "mass": 62466.0, "length": 566, "protein_name": "Ras and Rab interactor-like protein", "gene_name": "RINL", "organism": "Human", "refseq_name": "ras and Rab interactor-like protein isoform 1", "refseq_ac": "NP_001182762", "gene_names_uniprotkb": "RINL", "gene_names_refseq": "RINL", "protein_names_uniprotkb": "Ras and Rab interactor-like protein", "protein_names_refseq": "ras and Rab interactor-like protein isoform 1; ras and Rab interactor-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:126432); (R-HSA-8876198)", "pathway_count": 2, "publication_count": 206, "publication_id_list": "10818110;10990452;11038176;11179213;11237011;11516400;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;16410077;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17132146;17189207;17208202;17239822;17287728;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18354496;18367545;1845915;18477474;18559336;18585354;18664496;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19620288;19656848;19725050;19729655;19745841;19913121;20008558;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20592283;20628086;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22291991;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;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;24296415;24644286;24694596;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25505266;25576301;25648148;25713415;25925668;26055712;26177209;26245486;26434594;26538022;26925400;26936971;27041585;27044746;27103185;27246931;27329675;27543614;27862975;27920218;28228285;28832583;28904123;29242379;29393594;29493099;29632046;29632711;31844290;32357974;32387766;33298915;33717175;33968037;35051231;35580925;7688123;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "Guanine nucleotide exchange factor (GEF) for RAB5A and RAB22A that activates RAB5A and RAB22A by exchanging bound GDP for free GTP. Plays a role in endocytosis via its role in activating Rab family members (By similarity)., [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]; RINL, as a GEF for Rab5 subfamily, is implicated in the EphA8-degradation pathway via its interaction with odin., [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DPG5", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005829 cytosol;GO:0015629 actin cytoskeleton;GO:0030139 endocytic vesicle;GO:0001726 ruffle", "go_biological_process": "GO:0006897 endocytosis;GO:0015031 protein transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 20.7, "record_id": "Q6ZS11-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IUF8-1", "uniprot_id": "RIOX2_HUMAN", "mass": 52800.0, "length": 465, "protein_name": "Ribosomal oxygenase 2", "gene_name": "RIOX2", "organism": "Human", "refseq_name": "ribosomal oxygenase 2 isoform a", "refseq_ac": "NP_001035998", "gene_names_uniprotkb": "RIOX2; MDIG; MINA53; MINA; NO52", "gene_names_refseq": "JMJD10; MDIG; MINA53; MINA; NO52; RIOX2; ROX", "protein_names_uniprotkb": "Ribosomal oxygenase 2; 1.14.11.79; 60S ribosomal protein L27a histidine hydroxylase; Bifunctional lysine-specific demethylase and histidyl-hydroxylase MINA; Histone lysine demethylase MINA; MYC-induced nuclear antigen; Mineral dust-induced gene protein; Nucleolar protein 52; ROX; Ribosomal oxygenase MINA", "protein_names_refseq": "60S ribosomal protein L27a histidine hydroxylase; MYC induced nuclear antigen; MYC-induced nuclear antigen 53; bifunctional lysine-specific demethylase and histidyl-hydroxylase MINA; histone lysine demethylase MINA; mineral dust induced gene protein; myc-induced nuclear antigen, 53 kDa; nucleolar protein 52; ribosomal oxygenase 2 isoform a; ribosomal oxygenase MINA", "tax_id": 9606, "disease": "", "pathway": " (hsa:84864); (R-HSA-3214842); (R-HSA-9629569)", "pathway_count": 3, "publication_count": 92, "publication_id_list": "11237011;12091391;1378441;14695334;14742713;15534111;15620353;15676025;15819408;15897898;16362057;16603237;16603238;16732292;16732293;16738407;17310255;17317935;17320163;17351631;17713478;17947579;1856229;19502796;19574390;19608861;19727073;19819225;19843542;20023638;20068231;20084082;20129925;20208542;20457893;20622853;20622854;20684070;21060799;21532585;22615488;22851697;23103944;23303181;24100311;24486019;24550447;24550462;24550463;24714562;25728928;27600516;28218747;28446606;28514659;28832583;28904123;29242379;29331515;29437277;29563586;29632046;29786170;29914368;29915238;30379171;30484775;30833945;31217245;31844290;31848261;32157095;32357974;32502341;32938616;33298915;33592498;33717175;33912179;33981976;34019948;34335974;34405274;34855761;35021853;35051231;35166240;35583005;36284347;37938771;40596516;6688526", "class_list": "", "function": "Data suggests NO52 protein (MYC induced nuclear antigen) is directly involved in ribosome biogenesis, most likely during the assembly process of preribosomal particles., [RefSeq, PubMed]; Environmentally-induced mdig contributes to the severity of COVID-19 through fostering expression of SARS-CoV-2 receptor NRPs and glycan metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; Epigenomic reprogramming via HRP2-MINA dictates response to proteasome inhibitors in multiple myeloma with t(4;14) translocation., [RefSeq, PubMed]; MDIG, a 2oxoglutaratedependent oxygenase, acts as an oncogene and predicts the prognosis of multiple types of cancer., [RefSeq, PubMed]; MINA is a c-Myc (MYC; MIM 190080) target gene that may play a role in cell proliferation or regulation of cell growth. (Tsuneoka et al., 2002 [PubMed 12091391]; Zhang et al., 2005 [PubMed 15897898]).[supplied by OMIM, May 2008]., [RefSeq]; Mina53 may have a role in progression of esophageal squamous cell carcinoma, [RefSeq, PubMed]; Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase., [UniProtKB, UniProtKB]; Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase. Is involved in the demethylation of trimethylated 'Lys-9' on histone H3 (H3K9me3), leading to an increase in ribosomal RNA expression. Also catalyzes the hydroxylation of 60S ribosomal protein L27a on 'His-39'. May play an important role in cell growth and survival. May be involved in ribosome biogenesis, most likely during the assembly process of pre-ribosomal particles., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Role in cell division, [RefSeq, PubMed]; The bioinformatics analysis of RIOX2 gene in lung adenocarcinoma and squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The elevated expression of Mina53 is a characteristic feature in colon cancer, [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": 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": 5, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DN35;Q6AHW4;Q6SKS0;Q8IU69;Q8IUF6;Q8IUF7;Q96C17;Q96KB0", "ec_number_list": "1.14.11.69;1.14.11.66;1.14.11.-;1.14.11.79;1.14.11.27", "go_molecular_function": "GO:0051864 histone H3K36 demethylase activity;GO:0032453 histone H3K4 demethylase activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0042254 ribosome biogenesis;GO:0018126 protein hydroxylation", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q8IUF8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZV5-1", "uniprot_id": "RDH10_HUMAN", "mass": 38087.0, "length": 341, "protein_name": "Retinol dehydrogenase 10", "gene_name": "RDH10", "organism": "Human", "refseq_name": "retinol dehydrogenase 10", "refseq_ac": "NP_742034", "gene_names_uniprotkb": "RDH10; PRO34191; SDR16C4", "gene_names_refseq": "RDH10; SDR16C4", "protein_names_uniprotkb": "Retinol dehydrogenase 10; 1.1.1.300; Short chain dehydrogenase/reductase family 16C member 4", "protein_names_refseq": "retinol dehydrogenase 10 (all-trans); retinol dehydrogenase 10; short chain dehydrogenase/reductase family 16C member 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:157506); (R-HSA-2453902); (R-HSA-5365859)", "pathway_count": 3, "publication_count": 100, "publication_id_list": "10075733;10329026;10369264;10617778;10753906;10839978;11007799;11123914;11237011;11245473;11274389;12036956;12177057;12226107;12407145;12680773;12975309;14532297;14596915;15314061;15471866;15865448;17218779;17255476;18039331;18502750;18805086;1889753;19049981;1925597;19309693;20192770;20801113;21493626;21529158;21621639;21774515;21851338;22019272;22665496;2303470;23220587;2542268;25576301;25892735;26154972;27600516;27846572;27920218;28063628;28832583;29242379;2935875;29393594;29493099;29557506;29632046;29786170;3013304;30484775;30833945;31154438;31613821;3170584;31844290;32157095;32161166;32387766;32488085;32502341;32897882;32938616;32983136;33485967;33592498;33968037;33981976;34171305;35083852;35580925;35634847;36284347;39180753;5315589;6288450;6342691;6512705;6589631;6679757;7929238;8105993;8493914;8884265;9228021;9490294;9541407;9677409;9703434;9705317;9920938", "class_list": "", "function": "Changes in retinoid metabolism and signaling associated with metabolic remodeling during fasting and in type I diabetes., [RefSeq, PubMed]; Dual physiological role for RDH10: in the biosynthesis of 11-cis-retinaldehyde for vision as well as the biosynthesis of all-trans-retinoic acid for differentiation and development, [RefSeq, PubMed]; Forced over-expression of the RDH10 gene causes growth arrest of HepG2 cells and could be a possible curative strategy for hepatocellular carcinoma., [RefSeq, PubMed]; Organization of the gene includes a unique transcriptional start site, a coding region with six translated exons and a 3' UTR containing at least two used polyadenylation sites., [RefSeq, PubMed]; RDH10 regulated the migration and invasion of glioma cells via the TGF-beta/SMAD signaling pathway., [RefSeq, PubMed]; Retinol dehydrogenase 10 contributes to cancer stemness and intracellular carbohydrate storage in ovarian clear cell carcinomas., [RefSeq, PubMed]; Retinol dehydrogenase 10 promotes epithelial-mesenchymal transition in spinal cord gliomas via PI3K/AKT pathway., [RefSeq, PubMed]; Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinol to all-trans-retinal. Has no detectable activity towards 11-cis-retinol, 9-cis-retinol and 13-cis-retinol., [UniProtKB, PubMed]; This gene encodes a retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development. [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": 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": "1.1.1.300;1.1.1.-;1.1.1.64;1.1.1.54;1.1.1.216;1.1.1.105;1.1.1.315;1.1.1.209;1.1.1.53;1.1.1.21;1.1.1.372", "go_molecular_function": "GO:0004745 all-trans-retinol dehydrogenase (NAD+) activity;GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;GO:0052650 all-trans-retinol dehydrogenase (NADP+) activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005811 lipid droplet;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0042572 retinol metabolic process;GO:0007601 visual perception;GO:0042574 retinal metabolic process;GO:1900054 positive regulation of retinoic acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q8IZV5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43264-1", "uniprot_id": "ZW10_HUMAN", "mass": 88829.0, "length": 779, "protein_name": "Centromere/kinetochore protein zw10 homolog", "gene_name": "ZW10", "organism": "Human", "refseq_name": "centromere/kinetochore protein zw10 homolog", "refseq_ac": "NP_004715", "gene_names_uniprotkb": "ZW10", "gene_names_refseq": "HZW10; KNTC1AP; ZW10", "protein_names_uniprotkb": "Centromere/kinetochore protein zw10 homolog", "protein_names_refseq": "ZW10 homolog, centromere/kinetochore protein; ZW10, kinetochore associated, homolog; centromere/kinetochore protein zw10 homolog; zeste white 10 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:9183); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-6811434); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 9, "publication_count": 253, "publication_id_list": "10052452;10318838;10411507;10445031;10559959;10600384;10678165;10761932;10921873;10958683;11081627;11172815;11181178;11237011;11371342;11493604;11509732;11535616;11590237;11689559;11703931;11726511;11739780;11748249;11804586;12006501;12047556;12070132;12194817;12429848;12577064;12665801;12679384;12686595;12732141;12805219;12852857;14504276;14654841;14730319;15006353;15029241;15037235;15085137;15094189;15272311;15339662;15485811;15507212;15616190;15632110;15723797;15737063;15813748;15824131;15864301;15866170;15944396;16030262;16292343;1631136;16439214;16541025;16565220;16571679;16622419;16622420;16633337;16682347;16732327;1680566;16890222;16912714;16926190;16940185;16943183;17030981;17112726;17113138;17113389;17129783;17196341;17198702;17253781;17360540;1737036;17429068;17451557;17760859;17927562;17956946;18001770;18097444;18182008;18287528;18524849;18716626;18809720;18923426;1898986;19015319;19109418;19151722;19164740;19350017;19369418;1957170;19608861;19631211;19664994;19696148;19758564;19815554;19965387;20005805;20030946;20068231;20101212;20136777;20357002;20427317;20462495;20534429;20591975;20637885;21111234;21148482;21219331;21397845;21550981;21576392;21689688;21844168;21868368;21878504;21987589;22013193;22094269;22094460;22275430;22304919;22608513;22790947;22885700;22898188;23186163;23222643;23301498;23396477;23481700;23801653;24366607;24715725;24914801;25364732;25436559;25492864;25576301;25645385;25740311;25789526;25880248;25892735;26154972;26992070;27600516;27846572;27862975;27893789;27920218;28218747;28228285;28411811;28510447;28832583;28904123;29242379;29351928;29393594;29437277;29493099;29557506;29632046;29769354;29786170;29789417;30315122;30410026;30429286;30484775;30524438;30970241;31409757;31530632;31611695;31844290;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34171305;34260926;34357683;34405274;34509645;34725712;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;36581221;37217939;37938771;40914422;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;9114004;9177194;9244307;9288971;9298984;9405360;9649308;9649503;9751720;9892021;9990005", "class_list": "", "function": "Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex (PubMed:11590237, PubMed:15485811, PubMed:15824131). Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (ER); the function is proposed to depend on its association in the interphase NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:15029241)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. This protein is an essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. [provided by RefSeq, Aug 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": 6, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A1A528", "ec_number_list": "", "go_molecular_function": "GO:0019237 centromeric DNA binding", "go_cellular_component": "GO:0005828 kinetochore microtubule;GO:1990423 RZZ complex;GO:0070939 Dsl1/NZR complex;GO:0000922 spindle pole;GO:0005634 nucleus", "go_biological_process": "GO:0015031 protein transport;GO:0051301 cell division;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0007094 mitotic spindle assembly checkpoint signaling;GO:0051988 regulation of attachment of spindle microtubules to kinetochore", "synthesized_glycan_count": 0, "hit_score": 25.7, "record_id": "O43264-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96CC6-1", "uniprot_id": "RHDF1_HUMAN", "mass": 97401.0, "length": 855, "protein_name": "Inactive rhomboid protein 1", "gene_name": "RHBDF1", "organism": "Human", "refseq_name": "inactive rhomboid protein 1", "refseq_ac": "NP_071895", "gene_names_uniprotkb": "RHBDF1; C16orf8; DIST1; IRHOM1", "gene_names_refseq": "C16orf8; Dist1; EGFR-RS; RHBDF1; gene-89; gene-90; hDist1", "protein_names_uniprotkb": "Inactive rhomboid protein 1; Epidermal growth factor receptor-related protein; Rhomboid 5 homolog 1; Rhomboid family member 1; iRhom1; p100hRho", "protein_names_refseq": "epidermal growth factor receptor, related sequence; epidermal growth factor receptor-related protein; iRhom1; inactive rhomboid protein 1; p100hRho; rhomboid family 1; rhomboid family member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:64285)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15965977;16728641;18524845;18832597;21439629;23186163;26109405;27862975;30429286;31844290;32157095;32938616;33592498;33968037;34276048;35051231;35580925;35585977;35595096;37979663;8318735", "class_list": "", "function": "Alternative splicing of the human rhomboid family-1 gene RHBDF1 inhibits epidermal growth factor receptor activation., [RefSeq, PubMed]; Attenuation of Excess TNF-alpha Release in Crohn's Disease by Silencing of iRHOMs 1/2 and the Restoration of TGF-beta Mediated Immunosuppression Through Modulation of TACE Trafficking. Publication Status: Online-Only, [RefSeq, PubMed]; RHBDF1 deficiency suppresses melanoma glycolysis and enhances efficacy of immunotherapy by facilitating glucose-6-phosphate isomerase degradation via TRIM32., [RefSeq, PubMed]; RHBDF1 is a seven-transmembrane protein with a long N-terminal cytoplasmic extension that comprises half of the polypeptide sequence, and is found in the endoplasmic reticulum and Golgi, but not on the cell surface, [RefSeq, PubMed]; RHBDF1 promotes AP-1-activated endothelial-mesenchymal transition in tumor fibrotic stroma formation. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, 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": 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": 5, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 22, "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": "Q04842;Q1W6H2;Q4TT59;Q96S34;Q9H6E1", "ec_number_list": "", "go_molecular_function": "GO:0019838 growth factor binding;GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0050709 negative regulation of protein secretion;GO:0008283 cell population proliferation;GO:0015031 protein transport;GO:0016477 cell migration;GO:0050708 regulation of protein secretion", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q96CC6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NVU0-1", "uniprot_id": "RPC5_HUMAN", "mass": 79898.0, "length": 708, "protein_name": "DNA-directed RNA polymerase III subunit RPC5", "gene_name": "POLR3E", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase III subunit RPC5 isoform 2", "refseq_ac": "NP_001244962", "gene_names_uniprotkb": "POLR3E; KIAA1452", "gene_names_refseq": "C37; POLR3E; RPC5; SIN", "protein_names_uniprotkb": "DNA-directed RNA polymerase III subunit RPC5; DNA-directed RNA polymerase III 80 kDa polypeptide; RNA polymerase III subunit C5", "protein_names_refseq": "DNA-directed RNA polymerase III 80 kDa polypeptide; DNA-directed RNA polymerase III subunit RPC5 isoform 2; DNA-directed RNA polymerase III subunit RPC5; RNA polymerase III 80 kDa subunit RPC5; RNA polymerase III subunit C5; polymerase (RNA) III (DNA directed) polypeptide E (80kD); polymerase (RNA) III subunit E", "tax_id": 9606, "disease": "chromosome 16p12.1 deletion syndrome (Disease Ontology:DOID:0060399)", "pathway": " (hsa:55718); (R-HSA-1834949); (R-HSA-73780); (R-HSA-73980); (R-HSA-749476); (R-HSA-76061); (R-HSA-76066); (R-HSA-76071)", "pathway_count": 8, "publication_count": 113, "publication_id_list": "10.1101/2023.09.13.557529;10421633;11056176;11118217;11237011;11419933;11463379;12381659;12391170;17525332;18452278;18669648;19158675;19158676;19158679;1946469;19609254;19631370;19651622;19690332;20068231;20413673;21398614;21406692;23186163;23251783;23388631;23481700;2404611;24275569;24714562;24715725;25114211;25218447;25418920;25576301;25755297;25772364;25892735;26154972;26375851;26929215;26992070;27600516;27862975;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632046;29728610;29786170;30315122;30410026;30484775;30524438;30779550;31154438;31217245;31530632;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32502341;32843346;32938616;32983136;33141586;33298915;33335104;33558764;33558766;33592498;33674783;33717175;33912179;33936100;33968037;34171305;34211107;34675218;35051231;35637192;36010968;36241641;37217939;40914422;7568218;7891697;7995525;8035818;8308883;8407894;8423814;9003788;9171375;9234698;9312031;9418884;9660958", "class_list": "", "function": "A mutation in POLR3E impairs antiviral immune response and RNA polymerase III., [RefSeq, PubMed]; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:12391170, PubMed:20413673, PubMed:35637192). Specific peripheric component of RNA polymerase III (Pol III) which synthesizes small non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs from at least 500 distinct genomic loci. Assembles with POLR3D/RPC4 forming a subcomplex that binds the Pol III core. Enables recruitment of Pol III at transcription initiation site and drives transcription initiation from both type 2 and type 3 DNA promoters. Required for efficient transcription termination and reinitiation (By similarity) (PubMed:12391170, PubMed:20413673, PubMed:35637192). Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as a nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF-kappa-B through the RIG-I pathway (PubMed:19609254, PubMed:19631370)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Data describe the purification and identification of RNA polymerase III subunits RPC2 and RPC5., [RefSeq, PubMed]; Mutations in the coding region of POLR3E cause impaired expression of antiviral cytokines and susceptibility to varicella-zoster virus CNS infection., [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": 6, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DL24;B4DUP6;H3BT11;Q9BWF7;Q9H8W8;Q9H907;Q9P276", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005666 RNA polymerase III complex", "go_biological_process": "GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0006383 transcription by RNA polymerase III;GO:0006386 termination of RNA polymerase III transcription;GO:0006384 transcription initiation at RNA polymerase III promoter", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "Q9NVU0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6P5W5-1", "uniprot_id": "S39A4_HUMAN", "mass": 68408.0, "length": 647, "protein_name": "Zinc transporter ZIP4", "gene_name": "SLC39A4", "organism": "Human", "refseq_name": "zinc transporter ZIP4 isoform 1", "refseq_ac": "NP_060237", "gene_names_uniprotkb": "SLC39A4; ZIP4", "gene_names_refseq": "AEZ; AWMS2; SLC39A4; ZIP4", "protein_names_uniprotkb": "Zinc transporter ZIP4; Solute carrier family 39 member 4; ZIP-4; Zrt- and Irt-like protein 4", "protein_names_refseq": "ZRT/IRT-like protein 4; solute carrier family 39 (zinc transporter), member 4; zinc transporter 4; zinc transporter ZIP4 isoform 1; zinc transporter ZIP4; zrt- and Irt-like protein 4", "tax_id": 9606, "disease": "acrodermatitis enteropathica (Disease Ontology:DOID:0050605)", "pathway": " (hsa:55630); (R-HSA-442380); (R-HSA-5619088)", "pathway_count": 3, "publication_count": 56, "publication_id_list": "10364181;10610721;10681536;11237011;11301334;12032886;12068297;12787121;12839489;14525538;14612438;15322118;15642354;16638970;16804107;17202136;17359283;17550612;18003899;18390834;19265717;19370757;19664994;19755388;22242765;26992070;27321477;28875161;29437277;30874431;31164399;31844290;31914589;31979155;32157095;32348750;32387766;32938616;33298915;33631610;33837739;33912179;33936100;33968037;33981976;34087483;34171305;35289036;36010968;36215666;36241641;36473915;36581221;37700277;37938771;38217540", "class_list": "", "function": "A novel member of a zinc transporter family, hZIP4, is defective in acrodermatitis enteropathica., [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]; Increased expression of zinc transporter ZIP4, ZIP11, ZnT1, and ZnT6 predicts poor prognosis in pancreatic cancer., [RefSeq, PubMed]; SLC39A4 is centrally involved in the pathogenesis of acrodermatitis enteropathica., [RefSeq, PubMed]; Selective transporter that mediates the uptake of Zn(2+) (PubMed:17202136, PubMed:22242765, PubMed:27321477, PubMed:28875161, PubMed:31164399, PubMed:31914589, PubMed:31979155, PubMed:33837739, PubMed:36473915). Plays an essential role for dietary zinc uptake from small intestine (By similarity). The Zn(2+) uniporter activity is regulated by zinc availability (PubMed:17202136, PubMed:32348750). Also exhibits polyspecific binding and transport of Cu(2+), Cd(2+) and possibly Ni(2+) but at higher concentrations (PubMed:22242765, PubMed:31914589)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Selective transporter that mediates the uptake of Zn(2+). Plays an essential role for dietary zinc uptake from small intestine. The Zn(2+) uniporter activity is regulated by zinc availability. Also exhibits polyspecific binding and transport of Cu(2+), Cd(2+) and possibly Ni(2+) but at higher concentrations., [UniProtKB, UniProtKB]; The transmembrane domains mediate oligomerization of the human ZIP4 transporter in vivo. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]., [RefSeq]; Three novel mutations, 1017ins53, which creates premature termination codon, and two mis-sense mutations, R95C and Q303H., [RefSeq, PubMed]; ZIP4 upregulation aggravates nucleus pulposus cell degradation by promoting inflammation and oxidative stress by mediating the HDAC4-FoxO3a 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": 1, "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": 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": 1, "reported_mutagensis": 36, "reported_glycation": 0, "reported_snv": 16, "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": "Q7L5S5;Q9H6T8;Q9NXC4", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0106219 zinc ion sensor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016324 apical plasma membrane;GO:0031410 cytoplasmic vesicle;GO:0055038 recycling endosome membrane", "go_biological_process": "GO:0071577 zinc ion transmembrane transport;GO:0006882 intracellular zinc ion homeostasis;GO:0030003 intracellular monoatomic cation homeostasis;GO:0071578 zinc ion import across plasma membrane;GO:0006829 zinc ion transport", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q6P5W5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86WA9-1", "uniprot_id": "S2611_HUMAN", "mass": 65299.0, "length": 606, "protein_name": "Sodium-independent sulfate anion transporter", "gene_name": "SLC26A11", "organism": "Human", "refseq_name": "sodium-independent sulfate anion transporter", "refseq_ac": "NP_001159819", "gene_names_uniprotkb": "SLC26A11", "gene_names_refseq": "SLC26A11", "protein_names_uniprotkb": "Sodium-independent sulfate anion transporter; Solute carrier family 26 member 11", "protein_names_refseq": "sodium-independent sulfate anion transporter; solute carrier family 26 (anion exchanger), member 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:284129); (R-HSA-174362); (R-HSA-427601)", "pathway_count": 3, "publication_count": 50, "publication_id_list": "11087667;11237011;11247665;11829495;11834742;12626430;12713736;12716889;12759755;15155570;15591059;16303743;16492677;16914891;17673510;17897319;20957757;21752829;22521418;23506885;24051746;28467828;28904123;29393594;29557506;30484775;32350084;32357974;32387766;32502341;32938616;32983136;33298915;33592498;33912179;34357683;34509645;35051231;35325049;35494241;36010968;36215666;7683425;7923357;8300633;8619989;8896562;9576487;9668121;9771708", "class_list": "glycogene", "function": "SLC26A11 protein localizes in lysosomes in HeLa cells, [RefSeq, PubMed]; Sodium-independent anion exchanger mediating bicarbonate, chloride, sulfate and oxalate transport (By similarity). Exhibits sodium-independent sulfate anion transporter activity that may cooperate with SLC26A2 to mediate DIDS-sensitive sulfate uptake into high endothelial venules endothelial cells (HEVEC) (PubMed:12626430). In the kidney, mediates chloride-bicarbonate exchange, facilitating V-ATPase-mediated acid secretion (By similarity). May function as a chloride channel, playing an important role in moderating chloride homeostasis and neuronal activity in the cerebellum (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a member of the solute linked carrier 26 family of anion exchangers. Members of this family of proteins are essential for numerous cellular functions including homeostasis and intracellular electrolyte balance. The encoded protein is a sodium independent sulfate transporter that is sensitive to the anion exchanger inhibitor 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid. Alternate splicing results in multiple transcript variants.[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": 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": 0, "reported_glycation": 0, "reported_snv": 808, "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": "B2RCI7;Q86VX1;Q86YX7;Q8IV11;Q8N2I1;Q8NG03", "ec_number_list": "", "go_molecular_function": "GO:0008509 monoatomic anion transmembrane transporter activity;GO:0005254 chloride channel activity;GO:0008271 secondary active sulfate transmembrane transporter activity;GO:0015116 sulfate transmembrane transporter activity;GO:0140900 chloride:bicarbonate antiporter activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0019532 oxalate transport;GO:0055085 transmembrane transport;GO:1902476 chloride transmembrane transport;GO:1902358 sulfate transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q86WA9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VTB9-1", "uniprot_id": "RN220_HUMAN", "mass": 62765.0, "length": 566, "protein_name": "E3 ubiquitin-protein ligase RNF220", "gene_name": "RNF220", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF220 isoform 1", "refseq_ac": "NP_001306885", "gene_names_uniprotkb": "RNF220; C1orf164", "gene_names_refseq": "C1orf164; HLD23; RNF220", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF220; 2.3.2.27; RING finger protein 220; RING-type E3 ubiquitin transferase RNF220", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF220 isoform 1; E3 ubiquitin-protein ligase RNF220; RING-type E3 ubiquitin transferase RNF220", "tax_id": 9606, "disease": "hypomyelinating leukodystrophy 23 (Disease Ontology:DOID:0070397)", "pathway": " (hsa:55182); (R-HSA-983168)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;17081983;18662542;18669648;19028597;19352404;19413330;19452197;19489725;19651622;19851334;19874575;19913121;19940261;20628086;2261476;25218447;25266658;25576301;26992070;27600516;28657654;28904123;29493099;29557506;29632711;30410026;31154438;31844290;32157095;32814877;32938616;33298915;33592498;33964137;33968037;34171305;34702297;34753387;35040952;35254053;35289036;37537194;38324685;41219491;9380723;9668046", "class_list": "", "function": "CircRNF220, not its linear cognate gene RNF220, regulates cell growth and is associated with relapse in pediatric acute myeloid leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of multiple substrates including GRIA1, GRIA2, PHOX2A and PHOX2B, STAT1, STAT3 and SIN3B. Independently of its E3 ligase activity, acts as a CTNNB1 stabilizer through USP7-mediated deubiquitination of CTNNB1 promoting Wnt signaling (PubMed:25266658, PubMed:33964137). Plays a critical role in the regulation of nuclear lamina (PubMed:33964137). Modulates synaptic activity and brain functions by promoting degradation of AMPA receptor subunits GRIA1 and GRIA2. The RNF220/ZC4H2 complex monoubiquitinates PHOX2A and PHOX2B to enhance their DNA-binding ability and transactivity (By similarity). Promotes 'Lys-63'-linked polyubiquitination of Gli transcriptional activators and repressors, facilitating their nuclear export by CRM1 to fine-tune the sonic hedgehog/Gli signaling (By similarity). Regulates type I and type II interferon responses upon viral or bacterial infection by mediating 'Lys-63'-linked polyubiquitination of STAT1 (PubMed:32814877). Also regulates STAT3 phosphorylation, nuclear translocation, and transcriptional activity via ubiquitination (PubMed:41219491). Promotes OLIG1 and OLIG2 'Lys-63'-linked polyubiquitination and stabilization, two master regulatory transcription factors involved in oligodendroglial development (PubMed:38324685)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, 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]; RNF220 interacts with USP7, a ubiquitin-specific peptidase, which is required for RNF220 to stabilize beta-catenin., [RefSeq, PubMed]; Ring finger 220 promotes the stemness and progression of colon cancer cells via Ubiquitin specific peptidase 22-BMI1 axis., [RefSeq, PubMed]; Sequential stabilization of RNF220 by RLIM and ZC4H2 during cerebellum development and Shh-group medulloblastoma progression. Erratum:[J Mol Cell Biol. 2022 May 25;14(2):mjac030. doi: 10.1093/jmcb/mjac030. PMID: 35639540], [RefSeq, PubMed]; Smurf1 and Smurf2 mediated polyubiquitination and degradation of RNF220 suppresses Shh-group medulloblastoma. 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": 4, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 13, "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": "B3KPJ3;B4DLZ9;E9PCS1;Q4KMX2;Q9NVP6", "ec_number_list": "2.3.2.24;2.3.2.23;2.3.2.26;2.3.2.27;2.3.2.31;2.3.2.-;6.2.1.-;2.3.2.34;2.3.2.32;3.6.4.-;2.3.2.25;2.3.2.36;2.7.11.1", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0008013 beta-catenin binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0098794 postsynapse", "go_biological_process": "GO:2000677 regulation of transcription regulatory region DNA binding;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0016567 protein ubiquitination;GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q5VTB9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O76082-1", "uniprot_id": "S22A5_HUMAN", "mass": 62752.0, "length": 557, "protein_name": "Organic cation/carnitine transporter 2", "gene_name": "SLC22A5", "organism": "Human", "refseq_name": "organic cation/carnitine transporter 2 isoform a", "refseq_ac": "NP_001295051", "gene_names_uniprotkb": "SLC22A5; OCTN2", "gene_names_refseq": "CDSP; OCTN2; SLC22A5", "protein_names_uniprotkb": "Organic cation/carnitine transporter 2; High-affinity sodium-dependent carnitine cotransporter; Solute carrier family 22 member 5", "protein_names_refseq": "high-affinity sodium dependent carnitine cotransporter; organic cation/carnitine transporter 2 isoform a; organic cation/carnitine transporter 2; systemic carnitine deficiency", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); myelodysplastic syndrome (Disease Ontology:DOID:0050908); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); systemic primary carnitine deficiency disease (Disease Ontology:DOID:14365); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); congestive heart failure (Disease Ontology:DOID:6000); inherited metabolic disorder (Disease Ontology:DOID:655); Crohn's disease (Disease Ontology:DOID:8778)", "pathway": " (hsa:6584); (R-HSA-200425); (R-HSA-549127); (R-HSA-5619053)", "pathway_count": 4, "publication_count": 96, "publication_id_list": "10.1101/2023.09.13.557529;10072434;10196521;10425211;10454528;10480371;10525100;10545605;10559218;10612840;10677481;10679939;10966924;10966938;11058897;11237011;11356169;11715001;11790793;12089149;12204000;12372408;12384147;14517221;14608356;14674884;14711372;15060529;15107849;15184985;15617188;15714519;15795384;16330770;16788146;16807400;16931768;17126586;17223360;17509534;17509700;17855766;18005709;18556348;19349973;19690332;20027113;20074989;20233797;20457939;20538056;20574985;20722056;21126579;21922592;22123817;22871568;23186163;23481700;24190977;24277613;25418920;26522469;26828774;28834231;28841266;29393594;29769354;32938616;33124720;33334877;34357683;35051231;35251023;35307651;36343260;36539562;37074911;37187422;37217939;7711730;7989337;8647271;9048718;9099716;9260930;9344464;9399886;9520460;9618255;9655880;9685390;9691089;9706223;9744804;9916797", "class_list": "", "function": "Evaluation of the gene encoding carnitine transporter (OCTN2/SLC22A5) expression in human breast cancer and its association with clinicopathological characteristics., [RefSeq, PubMed]; Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency., [RefSeq, PubMed]; Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]., [RefSeq]; Retained in the ER, unable to perform carnitine uptake., [UniProtKB, PubMed]; Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine (PubMed:10454528, PubMed:10525100, PubMed:10966938, PubMed:17509700, PubMed:20722056, PubMed:33124720). Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 11.3 (PubMed:10454528, PubMed:10525100, PubMed:10966938). In intestinal epithelia, transports the quorum-sensing pentapeptide CSF (competence and sporulation factor) from B.subtilis which induces cytoprotective heat shock proteins contributing to intestinal homeostasis (PubMed:18005709). May also contribute to regulate the transport of organic compounds in testis across the blood-testis-barrier (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The activity and surface presence of organic cation/carnitine transporter OCTN2 (SLC22A5) in breast cancer cells depends on AKT kinase., [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": 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": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 8, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A2Q0V1;B2R844;D3DQ87;Q6ZQZ8;Q96EH6", "ec_number_list": "", "go_molecular_function": "GO:0015651 quaternary ammonium group transmembrane transporter activity;GO:0015199 amino-acid betaine transmembrane transporter activity;GO:0042910 xenobiotic transmembrane transporter activity;GO:0005524 ATP binding;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0015697 quaternary ammonium group transport;GO:0009609 response to symbiotic bacterium;GO:0034612 response to tumor necrosis factor;GO:0006814 sodium ion transport;GO:0015837 amine transport", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "O76082-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HCK4-1", "uniprot_id": "ROBO2_HUMAN", "mass": 151200.0, "length": 1378, "protein_name": "Roundabout homolog 2", "gene_name": "ROBO2", "organism": "Human", "refseq_name": "roundabout homolog 2 isoform ROBO2a precursor", "refseq_ac": "NP_001122401", "gene_names_uniprotkb": "ROBO2; KIAA1568", "gene_names_refseq": "ROBO2; SAX3", "protein_names_uniprotkb": "Roundabout homolog 2", "protein_names_refseq": "roundabout homolog 2 isoform ROBO2a precursor; roundabout, axon guidance receptor, homolog 2", "tax_id": 9606, "disease": "myoclonic-atonic epilepsy (Disease Ontology:DOID:0060475); transient cerebral ischemia (Disease Ontology:DOID:224); vesicoureteral reflux (Disease Ontology:DOID:9620)", "pathway": " (hsa:6092); (R-HSA-376176); (R-HSA-428542); (R-HSA-8985801); (R-HSA-9010553); (R-HSA-9010642); (R-HSA-9830674)", "pathway_count": 7, "publication_count": 34, "publication_id_list": "10.1101/2023.09.13.557529;10102266;10102268;10892742;11237011;11375980;11404413;12508280;15063764;16829019;17357069;17565045;19706539;20375348;21600986;23090970;23217742;23746841;24190977;24936616;25242263;25882844;25892735;26586761;31154438;31844290;32350084;35051231;35251023;35584116;35940226;37660281;38612763;9458045", "class_list": "", "function": "An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations., [RefSeq, PubMed]; Conformational Change of the Hairpin-like-structured Robo2 Ectodomain Allows NELL1/2 Binding., [RefSeq, PubMed]; Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux., [RefSeq, PubMed]; Overexpression of miR-25 Downregulates the Expression of ROBO2 in Idiopathic Intellectual Disability. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for SLIT2, and probably SLIT1, which are thought to act as molecular guidance cue in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development., [UniProtKB]; SALL4 advances the proliferation and tumor cell stemness of colon cancer cells through the transcription and regulation of ROBO2., [RefSeq, PubMed]; The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog 2 protein and functions in axon guidance and cell migration. Mutations in this gene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]., [RefSeq]; Two differentially expressed isoforms were isolated and identified. Exons 1 and 2 of human ROBO2a lie in an inherently unstable DNA segment at human chromosome 3p12.3., [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": 3, "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": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 70, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 3, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "O43608;Q19AB4;Q19AB5", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0008046 axon guidance receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0070062 extracellular exosome;GO:0030673 axolemma;GO:0016020 membrane", "go_biological_process": "GO:0006935 chemotaxis;GO:0016199 axon midline choice point recognition;GO:0007417 central nervous system development;GO:0098609 cell-cell adhesion;GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9HCK4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H974-1", "uniprot_id": "QTRT2_HUMAN", "mass": 46713.0, "length": 415, "protein_name": "Queuine tRNA-ribosyltransferase accessory subunit 2", "gene_name": "QTRT2", "organism": "Human", "refseq_name": "queuine tRNA-ribosyltransferase accessory subunit 2 isoform 2", "refseq_ac": "NP_001243764", "gene_names_uniprotkb": "QTRT2; QTRTD1", "gene_names_refseq": "QTRT2; QTRTD1", "protein_names_uniprotkb": "Queuine tRNA-ribosyltransferase accessory subunit 2; Queuine tRNA-ribosyltransferase domain-containing protein 1", "protein_names_refseq": "queuine tRNA-ribosyltransferase accessory subunit 2 isoform 2; queuine tRNA-ribosyltransferase domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79691); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "10430867;10982862;11027153;11111046;11237011;12403464;15861136;15870694;15994936;16043508;16424344;17071714;18446792;18567810;19017811;19414587;20068231;20123966;20308323;20354154;20584901;21059936;21131277;22344696;22591353;22645359;22995836;23042678;23048041;23301498;23381944;23481700;23604283;24126054;24204302;24714562;24715725;24901367;25261850;25404562;25418920;25576301;25645385;25916855;26024233;26154972;26160102;26310293;26728094;26992070;27055666;27600516;27920218;28063628;28218747;28228285;28446606;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30410026;30429286;30524438;30833945;31092671;31154438;31481669;31844290;31848261;32157095;32161166;32350084;32387766;32502341;32897882;32938616;32983136;33298915;33633747;33691108;33717175;33936100;34009357;34211107;34229054;34241577;34357683;34509645;35051231;35580925;36010968;36284347;36610787;9430663;9851972", "class_list": "", "function": "Non-catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis-dihydroxy-2-cyclopenten-1-yl)amino)methyl)-7-deazaguanosine)., [UniProtKB, HAMAP, PubMed, PubMed]; TGT is composed of a catalytic subunit, QTRT1, and QTRTD1, not USP14. QTRTD1 has been implicated as the salvage enzyme that generates free queuine from QMP., [RefSeq, PubMed]; This gene encodes a subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine, and tyrosine. The encoded protein may play a role in the queuosine 5'-monophosphate salvage pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [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": 1, "reported_mutagensis": 8, "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": "A6NGE9;B7Z472;B7Z5R2;J3KR78;Q6IA59", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0046982 protein heterodimerization activity;GO:0008479 tRNA-guanosine(34) queuine transglycosylase activity;GO:0140767 enzyme-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0032473 cytoplasmic side of mitochondrial outer membrane;GO:0120507 tRNA-guanine transglycosylase complex", "go_biological_process": "GO:0002099 tRNA wobble guanine modification;GO:0006400 tRNA modification", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q9H974-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92552-1", "uniprot_id": "RT27_HUMAN", "mass": 47611.0, "length": 414, "protein_name": "Small ribosomal subunit protein mS27", "gene_name": "MRPS27", "organism": "Human", "refseq_name": "small ribosomal subunit protein mS27 isoform 1", "refseq_ac": "NP_001273677", "gene_names_uniprotkb": "MRPS27; KIAA0264", "gene_names_refseq": "MRP-S27; MRPS27; S27mt; mS27", "protein_names_uniprotkb": "Small ribosomal subunit protein mS27; 28S ribosomal protein S27, mitochondrial; MRP-S27; Mitochondrial ribosomal protein S27; S27mt", "protein_names_refseq": "28S ribosomal protein S27, mitochondrial; mitochondrial 28S ribosomal protein S27; mitochondrial small ribosomal subunit protein mS27; small ribosomal subunit protein mS27 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23107); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 73, "publication_id_list": "11237011;11344316;15358359;17488105;17803939;18429816;18782833;19103604;19524667;19716793;20186120;20877624;21907147;22172991;2250005;22841715;23481700;24366607;24715725;25233460;25367160;25418920;25838379;26154972;26811146;26992070;27029019;27846572;27920218;28218747;28228285;28510447;28714366;28832583;28834231;28892042;28904123;29242379;29508533;30215512;30833945;31530632;31844290;32157095;32350084;32357974;32387766;32502341;32897882;32938616;33141586;33243891;33298915;33465208;33537174;33717175;33878294;33912179;33968037;34185709;34211107;34229054;35051231;35083852;35580925;36010968;36302763;36596788;37141370;37603533;38665916;40596516;40914422", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that may be a functional partner of the death associated protein 3 (DAP3). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; RNA-binding component of the mitochondrial small ribosomal subunit (mt-SSU) that plays a role in mitochondrial protein synthesis (PubMed:22841715). Stimulates mitochondrial mRNA translation of subunit components of the mitochondrial electron transport chain (PubMed:22841715). Binds to the mitochondrial 12S rRNA (12S mt-rRNA) and tRNA(Glu) (PubMed:22841715). Involved also in positive regulation of cell proliferation and tumor cell growth (PubMed:28714366)., [UniProtKB, PubMed, PubMed]; The value of RPS15 and MRPS27 in ischemic stroke., [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": 11, "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": "B4DRT2;Q6P1S1", "ec_number_list": "", "go_molecular_function": "GO:0000049 tRNA binding;GO:0019843 rRNA binding", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006417 regulation of translation;GO:0008283 cell population proliferation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q92552-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q53QZ3-1", "uniprot_id": "RHG15_HUMAN", "mass": 54544.0, "length": 475, "protein_name": "Rho GTPase-activating protein 15", "gene_name": "ARHGAP15", "organism": "Human", "refseq_name": "rho GTPase-activating protein 15", "refseq_ac": "NP_060930", "gene_names_uniprotkb": "ARHGAP15; BM-024; BM-030; BM-046", "gene_names_refseq": "ARHGAP15; BM046", "protein_names_uniprotkb": "Rho GTPase-activating protein 15; ArhGAP15; Rho-type GTPase-activating protein 15", "protein_names_refseq": "rho GTPase-activating protein 15; rho-type GTPase-activating protein 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:55843); (R-HSA-9013149); (R-HSA-9013423)", "pathway_count": 3, "publication_count": 260, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10699171;10699464;10873802;10958683;11007481;11058585;11085924;11149925;11237011;11373293;11396949;11431473;11432776;11584276;11672528;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11956649;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;18697831;18838382;19269969;19494238;19534724;19605563;19673492;19690332;19713215;19934221;20400958;20460433;20679435;20810653;21148482;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22475431;22544926;22608513;22734669;22970203;23186163;23209303;23255595;23288169;23434736;23481700;23572525;23707487;23718289;23940355;24086303;24190977;24259668;24335996;24352656;24859002;24933155;24960694;25024229;25211221;25428919;25704760;25721503;25795300;25862245;25892735;26129894;26154972;26529257;26628301;26887924;26992070;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27806292;28063628;28114311;28196833;28228285;28356423;28832583;28904123;29089502;29242379;29351928;29358323;29382922;29493099;29508533;29534468;29632046;29769354;29867200;30315122;30524438;30853411;31092671;31298335;31844290;31871319;32203420;32357974;32387766;32502341;32897882;33141586;33298915;33691108;33717175;33912179;33936100;34225052;34509645;35051231;40914422;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;9792683;9822598;9843499;9988689", "class_list": "", "function": "A potential regulator of Rac1, [RefSeq, PubMed]; ARHGAP15 immunoreactivity correlated with decreased risk of recurrence and improved prognosis in breast carcinoma. ARHGA15 overexpression suppressed cell proliferation and migration of MCF-7 cells. Publication Status: Online-Only, [RefSeq, PubMed]; ARHGAP15 might serve as a tumor suppressor during colorectal cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; ARHGAP15 regulates lung cancer cell proliferation and metastasis via the STAT3 pathway., [RefSeq, PubMed]; COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon., [RefSeq, PubMed]; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has activity toward RAC1. Overexpression results in an increase in actin stress fibers and cell contraction., [UniProtKB, PubMed]; RHO GTPases (see ARHA; MIM 165390) regulate diverse biologic processes, and their activity is regulated by RHO GTPase-activating proteins (GAPs), such as ARHGAP15 (Seoh et al., 2003 [PubMed 12650940]).[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": 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": 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": "Q53R36;Q53RD7;Q53RT6;Q53SX9;Q584N9;Q6PJE6;Q86WP1;Q8IXX1;Q9NRL8;Q9NZ77;Q9NZ91", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0007264 small GTPase-mediated signal transduction;GO:0008360 regulation of cell shape", "synthesized_glycan_count": 0, "hit_score": 26.4, "record_id": "Q53QZ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZS1-2", "uniprot_id": "RPA49_HUMAN", "mass": 47260.0, "length": 419, "protein_name": "DNA-directed RNA polymerase I subunit RPA49", "gene_name": "POLR1E", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase I subunit RPA49 isoform 2", "refseq_ac": "NP_001269695", "gene_names_uniprotkb": "POLR1E; PAF53; PRAF1", "gene_names_refseq": "A49; PAF53; POLR1E; PRAF1; RPA49", "protein_names_uniprotkb": "DNA-directed RNA polymerase I subunit RPA49; DNA-directed RNA polymerase I subunit E; RNA polymerase I subunit A49; RNA polymerase I-associated factor 1; RNA polymerase I-associated factor 53", "protein_names_refseq": "DNA-directed RNA polymerase I subunit E; DNA-directed RNA polymerase I subunit RPA49 isoform 2; DNA-directed RNA polymerase I subunit RPA49; RNA polymerase I subunit A49; RNA polymerase I-associated factor 53; polymerase (RNA) I associated factor 1; polymerase (RNA) I polypeptide E, 53kDa; polymerase (RNA) I subunit E", "tax_id": 9606, "disease": "", "pathway": " (hsa:64425); (R-HSA-427413); (R-HSA-5250924); (R-HSA-73762); (R-HSA-73772); (R-HSA-73863)", "pathway_count": 6, "publication_count": 100, "publication_id_list": "10082553;10471499;10913176;11250901;12393749;12429849;12646563;14610093;14969726;1547496;15558034;16514417;16603771;16809778;17318177;17355984;18446792;18669648;19838300;20068231;21406692;21559432;22805593;23186163;23481700;23555303;23667505;24207024;24714562;24715725;24901984;24952918;25418920;25505266;25576301;25645385;25880248;25916849;26154972;26375851;26728094;26929215;26992070;27418187;27418309;27893789;27920218;2805069;28063628;28218747;28228285;28514659;28832583;28904123;29065309;29242379;29393594;29437277;29508533;29557506;29632046;30315122;30429286;30484775;31154438;31217245;31844290;31998317;32157095;32265295;32357974;32387766;32502341;32897882;32938616;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34357683;34671025;34887565;35051231;35154160;35318648;35561310;36010968;36215666;36241641;36271492;36284347;37356716;7491500;7597036;7801123;9582279", "class_list": "", "function": "Component of RNA polymerase I (Pol I), a DNA-dependent RNA polymerase which synthesizes ribosomal RNA precursors using the four ribonucleoside triphosphates as substrates (PubMed:24207024, PubMed:34671025, PubMed:34887565, PubMed:36271492). Appears to be involved in the formation of the initiation complex at the promoter by mediating the interaction between Pol I and UBTF/UBF (PubMed:24207024)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; PAF49: An RNA Polymerase I subunit essential for rDNA transcription and stabilization of PAF53., [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": 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": "Q5VZT3;Q8NBA9;Q96L20", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0001179 RNA polymerase I general transcription initiation factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0001650 fibrillar center;GO:0005736 RNA polymerase I complex", "go_biological_process": "GO:0006362 transcription elongation by RNA polymerase I;GO:0006361 transcription initiation at RNA polymerase I promoter;GO:0006363 termination of RNA polymerase I transcription;GO:0042790 nucleolar large rRNA transcription by RNA polymerase I;GO:0001188 RNA polymerase I preinitiation complex assembly", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q9GZS1-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q10587-1", "uniprot_id": "TEF_HUMAN", "mass": 33248.0, "length": 303, "protein_name": "Thyrotroph embryonic factor", "gene_name": "TEF", "organism": "Human", "refseq_name": "thyrotroph embryonic factor isoform 2", "refseq_ac": "NP_001138870", "gene_names_uniprotkb": "TEF; KIAA1655", "gene_names_refseq": "TEF", "protein_names_uniprotkb": "Thyrotroph embryonic factor", "protein_names_refseq": "TEF, PAR bZIP transcription factor; thyrotroph embryonic factor isoform 2; thyrotroph embryonic factor; thyrotrophic embryonic factor", "tax_id": 9606, "disease": "acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:7008)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;18477386;20068231;23481700;26375851;28832583;28904123;29242379;29557506;30429286;31575852;31844290;32274607;32938616;32983136;33834695;34171305;34405274;35580925;36284347;7835883;8639829", "class_list": "", "function": "Characterization of rearrangements in pediatric B-lymphoblastic leukemia/lymphoma by mate-pair sequencing (MPseq) identified a novel TCF3/TEF gene fusion. Publication Status: Online-Only, [RefSeq, PubMed]; Evaluation of ASPM and TEF Gene Expressions as Potential Biomarkers for Bladder Cancer., [RefSeq, PubMed]; This gene encodes a member of the PAR (proline and acidic amino acid-rich) subfamily of basic region/leucine zipper (bZIP) transcription factors. It is expressed in a broad range of cells and tissues in adult animals, however, during embryonic development, TEF expression appears to be restricted to the developing anterior pituitary gland, coincident with the appearance of thyroid-stimulating hormone, beta (TSHB). Indeed, TEF can bind to, and transactivate the TSHB promoter. It shows homology (in the functional domains) with other members of the PAR-bZIP subfamily of transcription factors, which include albumin D box-binding protein (DBP), human hepatic leukemia factor (HLF) and chicken vitellogenin gene-binding protein (VBP); VBP is considered the chicken homologue of TEF. Different members of the subfamily can readily form heterodimers, and share DNA-binding, and transcriptional regulatory properties. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]., [RefSeq]; Thyrotroph embryonic factor polymorphism predicts faster progression of Parkinson's disease in a longitudinal study., [RefSeq, PubMed]; Transcription factor that binds to and transactivates the TSHB promoter. Binds to a minimal DNA-binding sequence 5'-[TC][AG][AG]TTA[TC][AG]-3'., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0QYS8;B2RC22;Q15729;Q7Z3J7;Q8IU94;Q96TG4", "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:1990837 sequence-specific double-stranded DNA binding;GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity", "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:0048511 rhythmic process", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q10587-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WWT9-1", "uniprot_id": "S13A3_HUMAN", "mass": 66841.0, "length": 602, "protein_name": "Na(+)/dicarboxylate cotransporter 3", "gene_name": "SLC13A3", "organism": "Human", "refseq_name": "Na(+)/dicarboxylate cotransporter 3 isoform b", "refseq_ac": "NP_001011554", "gene_names_uniprotkb": "SLC13A3; NADC3; SDCT2", "gene_names_refseq": "ARLIAK; NADC3; NaC3; SDCT2; SLC13A3", "protein_names_uniprotkb": "Na(+)/dicarboxylate cotransporter 3; Na(+)-coupled carboxylate transporter 3; NaC3; NaDC-3; SLC13A3; Sodium-dependent high-affinity dicarboxylate transporter 2; Solute carrier family 13 member 3; hNaDC3", "protein_names_refseq": "Na(+)-coupled carboxylate transporter 3; Na(+)/dicarboxylate cotransporter 3 isoform b; Na(+)/dicarboxylate cotransporter 3; hNaDC3; naDC-3; sodium-dependent high affinity dicarboxylate transporter 3", "tax_id": 9606, "disease": "alcohol-related neurodevelopmental disorder (Disease Ontology:DOID:0050667); Kohlschutter-Tonz syndrome (Disease Ontology:DOID:0111668); epilepsy (Disease Ontology:DOID:1826); leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MONDO:MONDO:0032716)", "pathway": " (hsa:64849); (R-HSA-9955298)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10794676;10992006;11237011;12445824;15561973;16331647;17356845;17426067;24247155;28228285;29557506;30459171;30635937;31844290;32387766;32938616;34087483;35051231;36215666;36696070;37794328;39116875;39215042;39622972;39894887;8967342", "class_list": "", "function": "Association of Single Nucleotide Polymorphisms in KCNA10 and SLC13A3 Genes with the Susceptibility to Chronic Kidney Disease of Unknown Etiology in Central Indian Patients., [RefSeq, PubMed]; High-affinity sodium-dicarboxylate cotransporter that accepts a range of substrates with 4-6 carbon atoms, such as the citric acid cycle intermediates succinate and alpha-ketoglutarate (2-oxoglutarate), as well as other compounds including N-acetyl-L-aspartate (PubMed:10794676, PubMed:10992006, PubMed:15561973, PubMed:17356845, PubMed:17426067, PubMed:24247155, PubMed:30635937, PubMed:39622972). Transports the dicarboxylate into the cell with a probable stoichiometry of 3 Na(+) for 1 divalent dicarboxylate, rendering the process electrogenic (PubMed:10794676, PubMed:10992006). Can transport citrate in a Na(+)-dependent manner, recognizing the divalent form of citrate rather than the trivalent form which is normally found in blood (PubMed:10794676). Imports itaconate in hepatocytes leading to activation of TFEB-dependent lysosomal biogenesis involved in antibacterial innate immune response (PubMed:39116875)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. [provided by RefSeq, Jul 2008]., [RefSeq]; SLC13A3 is a major effector downstream of activated beta-catenin in liver cancer pathogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability. Publication Status: Online-Only, [RefSeq, PubMed]; The narrow substrate specificity prevents interaction of drugs with dicarboxylate-like structure with hNaDC-3 and ensures sufficient support of the proximal tubule cells with alpha-ketoglutarate for anion secretion via organic anion transporter 1 or 3., [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": 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": 3, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DIR8;E1P5U4;F6WI18;Q5JYC9;Q5JYD0;Q5JYD1;Q5TCQ2;Q8IVB1;Q8N8K4;Q96MM5;Q9BR25;Q9H1G1;Q9H3W4;Q9NQN5;Q9NS04", "ec_number_list": "", "go_molecular_function": "GO:0015139 alpha-ketoglutarate transmembrane transporter activity;GO:0015137 citrate transmembrane transporter activity;GO:0015362 high-affinity sodium:dicarboxylate symporter activity;GO:0017153 sodium:dicarboxylate symporter activity;GO:0034634 glutathione transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006869 lipid transport;GO:0015711 organic anion transport;GO:0015746 citrate transport;GO:0034775 glutathione transmembrane transport;GO:0006835 dicarboxylic acid transport", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q8WWT9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TB61-1", "uniprot_id": "S35B2_HUMAN", "mass": 47515.0, "length": 432, "protein_name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 1", "gene_name": "SLC35B2", "organism": "Human", "refseq_name": "adenosine 3'-phospho 5'-phosphosulfate transporter 1 isoform b", "refseq_ac": "NP_001273438", "gene_names_uniprotkb": "SLC35B2; PAPST1; PSEC0149", "gene_names_refseq": "HLD26; PAPST1; SLC35B2; SLL; UGTrel4", "protein_names_uniprotkb": "Adenosine 3'-phospho 5'-phosphosulfate transporter 1; PAPS transporter 1; Putative MAPK-activating protein PM15; Putative NF-kappa-B-activating protein 48; Solute carrier family 35 member B2", "protein_names_refseq": "3'-phosphoadenosine 5'-phosphosulfate transporter; PAPS transporter 1; adenosine 3'-phospho 5'-phosphosulfate transporter 1 isoform b; adenosine 3'-phospho 5'-phosphosulfate transporter 1; putative MAPK-activating protein PM15; putative NF-kappa-B-activating protein 48; solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2", "tax_id": 9606, "disease": "hypomyelinating leukodystrophy 26 (Disease Ontology:DOID:0070403)", "pathway": " (hsa:347734); (R-HSA-174362); (R-HSA-727802)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10393322;11237011;11784306;12626430;12713736;12716889;12759755;12761501;15082721;15607426;15911612;16303743;16492677;17081983;18578522;18669648;18691976;18767875;19007248;19413330;19415658;19773279;20068230;20068231;20978009;23186163;23506885;24576181;24715725;25418920;25576301;25645385;27397612;27600516;28228285;28510447;28904123;29242379;29393594;29557506;29632711;29786170;29789417;30315122;30779550;31154438;31844290;32157095;32265295;32350084;32357974;32387766;32897882;32938616;33592498;33691108;33912179;33936100;33951064;33968037;34087483;34171305;34357683;34405274;34509645;34725712;35051231;35251023;35325049;35420441;35501530;35580925;36010968;36241641;7923357;8300633;8619989;8889805;9576487;9668121;9771708", "class_list": "glycogene", "function": "Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy., [RefSeq, PubMed]; Differential genetic associations and expression of PAPST1/SLC35B2 in bipolar disorder and schizophrenia., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PAPS transporters play a role in the proliferation of colorectal carcinoma cells themselves and take part in a desmoplastic reaction to support cancer growth by controlling their sulfation status., [RefSeq, PubMed]; PAPS1 has roles in PAPS transport and post-translational sulfation, [RefSeq, PubMed]; Probably functions as a 3'-phosphoadenylyl sulfate:adenosine 3',5'-bisphosphate antiporter at the Golgi membranes. Mediates the transport from the cytosol into the lumen of the Golgi of 3'-phosphoadenylyl sulfate/adenosine 3'-phospho 5'-phosphosulfate (PAPS), a universal sulfuryl donor for sulfation events that take place in that compartment., [UniProtKB, PubMed]; Results suggest that frequently downregulated miR-22 expression is associated with cell proliferation in medulloblastomas, and this may be at least in part via PAPST1, which is a novel target of miR-22, [RefSeq, PubMed]; SLC35B2 Acts in a Dual Role in the Host Sulfation Required for EV71 Infection., [RefSeq, PubMed]; Sulfation of a FLAG tag mediated by SLC35B2 and TPST2 affects antibody recognition. Publication Status: Online-Only, [RefSeq, PubMed]; Sulfotransferases (e.g., SULT4A1; MIM 608359) use an activated form of sulfate, 3-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS), as a common sulfate donor for sulfation of glycoproteins, proteoglycans, and glycolipids in the endoplasmic reticulum and Golgi apparatus. SLC35B2 is located in the microsomal membrane and transports PAPS from the cytosol, where it is synthesized, into the Golgi lumen (Kamiyama et al., 2003 [PubMed 12716889]).[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": 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": 585, "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": "B4DDM2;B4DDU9;F5H7Y9;Q2VY06;Q53GA3;Q5T9W1;Q5T9W2;Q7Z2G3;Q8NBK6;Q96AR6", "ec_number_list": "", "go_molecular_function": "GO:0015297 antiporter activity;GO:0046964 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0055085 transmembrane transport;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0050650 chondroitin sulfate proteoglycan biosynthetic process;GO:0046963 3'-phosphoadenosine 5'-phosphosulfate transport;GO:1902558 5'-adenylyl sulfate transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q8TB61-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P56715-1", "uniprot_id": "RP1_HUMAN", "mass": 240661.0, "length": 2156, "protein_name": "Oxygen-regulated protein 1", "gene_name": "RP1", "organism": "Human", "refseq_name": "oxygen-regulated protein 1 isoform 1", "refseq_ac": "NP_006260", "gene_names_uniprotkb": "RP1; ORP1", "gene_names_refseq": "DCDC4A; ORP1; RP1", "protein_names_uniprotkb": "Oxygen-regulated protein 1; Retinitis pigmentosa 1 protein; Retinitis pigmentosa RP1 protein", "protein_names_refseq": "doublecortin domain containing 4A; oxygen-regulated protein 1 isoform 1; oxygen-regulated protein 1; retinitis pigmentosa 1 (autosomal dominant); retinitis pigmentosa 1 protein; retinitis pigmentosa RP1 protein", "tax_id": 9606, "disease": "retinitis pigmentosa 1 (Disease Ontology:DOID:0110390)", "pathway": " (hsa:6101)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "10391211;10391212;10401003;10484783;11095597;11237011;11527933;11773008;12764676;15863674;15933747;17081983;18452278;19664994;19664995;19956407;20068231;20664799;22052604;22334370;22424782;29557506;30379171;31154438;32387766;32938616;34171305;34183725;34932366;35051231;35580925;36341727;37217939;37843894;38399542;39463394", "class_list": "", "function": "Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS)., [RefSeq, PubMed]; In Silico identification of a common mobile element insertion in exon 4 of RP1. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA RP1-276N6.2 Expression and RP1-276N6.2 Gene Polymorphisms Contribute to the Risk of Coronary Artery Disease in Chinese Han Population., [RefSeq, PubMed]; Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population. Publication Status: Online-Only, [RefSeq, PubMed]; RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[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": 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 129, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005874 microtubule;GO:0001917 photoreceptor inner segment;GO:0005875 microtubule associated complex;GO:0005930 axoneme;GO:0032391 photoreceptor connecting cilium", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0007601 visual perception;GO:0007603 phototransduction, visible light;GO:0045494 photoreceptor cell maintenance;GO:0060041 retina development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "P56715-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P50120-1", "uniprot_id": "RET2_HUMAN", "mass": 15707.0, "length": 134, "protein_name": "Retinol-binding protein 2", "gene_name": "RBP2", "organism": "Human", "refseq_name": "retinol-binding protein 2", "refseq_ac": "NP_004155", "gene_names_uniprotkb": "RBP2; CRBP2", "gene_names_refseq": "CRABP-II; CRBP-II; CRBP2; CRBPII; RBP2; RBPC2", "protein_names_uniprotkb": "Retinol-binding protein 2; CRBP-II; Cellular retinol-binding protein II", "protein_names_refseq": "cellular retinol-binding protein II; retinol binding protein 2, cellular; retinol-binding protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:5948); (R-HSA-975634)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10052934;10769148;11060341;11181758;11237011;11274389;1279089;15358783;1542003;15583000;16200213;16939223;17525477;17644776;18076076;18087047;18295589;18460466;18507396;1856611;19014918;19139408;21106934;21851338;24106281;2793848;28970247;29567208;29671580;33631211;35184457;35580925;3714052;3942763;4345202;5057882;5675424;6420172;6961410;7657783;7683668;8017323;8384721;8728311;9888420;9920938;9925661", "class_list": "", "function": "Intracellular transport of retinol., [UniProtKB]; Molecular basis for the interaction of cellular retinol binding protein 2 (CRBP2) with nonretinoid ligands., [RefSeq, PubMed]; Molecular dynamics simulations for the uptake of retinol by CRBP 1 and 2, [RefSeq, PubMed]; Study demonstrates that Piasy may prevent exaggerated transcription of IFNI by Rbp2-mediated demethylation of H3K4me3 of IFNI, avoiding excessive immune responses, [RefSeq, PubMed]; This gene encodes an abundant protein present in the small intestinal epithelium. It is thought to participate in the uptake and/or intracellular metabolism of vitamin A. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. This protein may also modulate the supply of retinoic acid to the nuclei of endometrial cells during the menstrual cycle. [provided by RefSeq, Aug 2015]., [RefSeq]; [Effect of RBP2 gene silencing on proliferation, migration and invasion of ovarian epithelial cancer SKOV3/DDP cells 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": 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": 5, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K7G3;Q6ISQ9;Q6ISS7", "ec_number_list": "", "go_molecular_function": "GO:0005504 fatty acid binding;GO:0044325 transmembrane transporter binding;GO:0016918 retinal binding;GO:0005501 retinoid binding;GO:1904768 all-trans-retinol binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0098681 synaptic ribbon", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0008544 epidermis development;GO:0015908 fatty acid transport;GO:0006776 vitamin A metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "P50120-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRF8-1", "uniprot_id": "PYRG2_HUMAN", "mass": 65678.0, "length": 586, "protein_name": "CTP synthase 2", "gene_name": "CTPS2", "organism": "Human", "refseq_name": "CTP synthase 2", "refseq_ac": "NP_001137474", "gene_names_uniprotkb": "CTPS2", "gene_names_refseq": "CTPS2; GATD5B", "protein_names_uniprotkb": "CTP synthase 2; 6.3.4.2; CTP synthetase 2; UTP--ammonia ligase 2", "protein_names_refseq": "CTP synthase 2; CTP synthase II; CTP synthetase type 2; UTP-ammonia ligase 2; cytidine 5'-triphosphate synthetase 2", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); Parkinsonism (Disease Ontology:DOID:0080855); traumatic brain injury (Disease Ontology:DOID:0081292); migraine with aura (Disease Ontology:DOID:10024); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); Gilles de la Tourette syndrome (Disease Ontology:DOID:11119); hyperprolactinemia (Disease Ontology:DOID:12700); dementia (Disease Ontology:DOID:1307); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); drug psychosis (Disease Ontology:DOID:1742); anxiety disorder (Disease Ontology:DOID:2030); brain ischemia (Disease Ontology:DOID:2316); alcohol-induced mental disorder (Disease Ontology:DOID:251); opiate dependence (Disease Ontology:DOID:2559); morphine dependence (Disease Ontology:DOID:2560); toxic encephalopathy (Disease Ontology:DOID:3602); primary hyperaldosteronism (Disease Ontology:DOID:446); movement disease (Disease Ontology:DOID:480); schizophrenia (Disease Ontology:DOID:5419); ovarian hyperstimulation syndrome (Disease Ontology:DOID:5425); end stage renal disease (Disease Ontology:DOID:783); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:56474); (R-HSA-499943)", "pathway_count": 2, "publication_count": 97, "publication_id_list": "10215863;10453732;10618642;10716435;10799505;10884394;10899599;11237011;11277919;11278511;11517226;11796141;11912132;12972261;13211603;14729598;15630091;16179339;16373698;16756507;16820675;17081983;17320107;177353;17824959;18452278;18469;1851158;18635542;18669648;18997010;19176520;19220460;19413330;19415658;19651622;19766732;20068231;20166139;20739275;21080915;211388;211390;21252287;21378502;21406692;22847445;23186163;23416111;24275569;24503052;24715725;2542324;25576301;2656695;2668278;26824387;26992070;28218747;28510447;28832583;29242379;29314611;29393594;29437277;30315122;30429286;30833945;31217245;31844290;31848261;31873303;32157095;32161166;32502341;32938616;33298915;33592498;33691108;33912179;33968037;34357683;34509645;34583994;34932366;35051231;35580925;40615;5484814;6182143;6248551;7685356;7851394;8448179;8663313;9488696;9677297", "class_list": "", "function": "Analysis of the kinetic properties of hCTPS1 and hCTPS2, and determination that Ser(68) is a major site of CTPS2 regulation by phosphorylation, [RefSeq, PubMed]; CTP synthase involved in the de novo synthesis of CTP, a precursor of DNA, RNA and phospholipids. Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as a source of nitrogen (PubMed:10899599, PubMed:16179339, PubMed:31873303, PubMed:34583994). Constitutes the rate-limiting enzyme in the synthesis of cytosine nucleotides (PubMed:10899599, PubMed:16179339)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; CTPS2 was identified by genome-wide gene expression analyses as correlated with cellular sensitivity to cisplatin and carboplatin., [RefSeq, PubMed]; Low CTPS2 expression may be a rationally-based determinant of 5FU resistance., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the formation of CTP from UTP with the concomitant deamination of glutamine to glutamate. This protein is the rate-limiting enzyme in the synthesis of cytosine nucleotides, which play an important role in various metabolic processes and provide the precursors necessary for the synthesis of RNA and DNA. Cancer cells that exhibit increased cell proliferation also exhibit an increased activity of this encoded protein. Thus, this protein is an attractive target for selective chemotherapy. 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": 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": 2, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 31, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KWM2;Q9BRI0;Q9H809;Q9H8K9", "ec_number_list": "3.5.1.-;6.3.4.2", "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0003883 CTP synthase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0097268 cytoophidium", "go_biological_process": "GO:0044210 'de novo' CTP biosynthetic process;GO:0006241 CTP biosynthetic process;GO:0006220 pyrimidine nucleotide metabolic process;GO:0019856 pyrimidine nucleobase biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q9NRF8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35269-1", "uniprot_id": "T2FA_HUMAN", "mass": 58240.0, "length": 517, "protein_name": "General transcription factor IIF subunit 1", "gene_name": "GTF2F1", "organism": "Human", "refseq_name": "general transcription factor IIF subunit 1", "refseq_ac": "NP_002087", "gene_names_uniprotkb": "GTF2F1; RAP74", "gene_names_refseq": "BTF4; GTF2F1; RAP74; TF2F1; TFIIF-alpha; TFIIF", "protein_names_uniprotkb": "General transcription factor IIF subunit 1; General transcription factor IIF 74 kDa subunit; TFIIF-alpha; Transcription initiation factor IIF subunit alpha; Transcription initiation factor RAP74", "protein_names_refseq": "general transcription factor IIF 74 kDa subunit; general transcription factor IIF subunit 1; general transcription factor IIF, polypeptide 1, 74kDa; transcription initiation factor IIF subunit alpha; transcription initiation factor RAP74", "tax_id": 9606, "disease": "", "pathway": " (hsa:2962); (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-167238); (R-HSA-167242); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-168325); (R-HSA-674695); (R-HSA-6796648); (R-HSA-6803529); (R-HSA-6807505); (R-HSA-72086); (R-HSA-72163); (R-HSA-72165); (R-HSA-72203); (R-HSA-73776); (R-HSA-73779); (R-HSA-75953); (R-HSA-75955); (R-HSA-76042); (R-HSA-77075); (R-HSA-8851708); (R-HSA-9018519); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 35, "publication_count": 471, "publication_id_list": "10.1101/2023.09.13.557529;10022900;10024882;10199401;10207048;10428810;10500157;10526235;10669729;10723029;10757782;10828826;10866664;10873660;10882114;10916156;10920397;10938105;10982855;10984493;11010967;11014198;11034064;11060040;11101529;11103799;11136970;11165043;11183778;11233976;11237011;11248041;11313498;11313499;11333026;11345900;11350971;11410592;11433015;11452016;11486021;11581164;11607023;11682626;11739720;11747608;11784853;11856838;11859374;11884399;11971958;11988847;11991638;12072510;12176931;12370301;12393912;12411573;12414730;12414731;12477934;12498683;12574128;12578358;12591941;12612073;12653964;12676794;12732728;12737519;12931194;12959972;1310361;14519844;14625303;14631847;14675539;14701750;14701755;14713954;14749727;14762106;15001666;15037765;15084397;15276198;15282324;1531330;15343269;15345050;1535687;15489290;15514030;15565158;15601847;15781865;15986123;15989964;16009131;16046058;16083285;16087863;16113099;16239144;1630819;16308568;16314458;16410617;16449636;16548883;16603716;16809785;16901896;16933365;16964243;16980581;17013392;17081983;17095540;17128255;17132145;17234882;17277772;17332742;1734283;1734284;1739980;17463000;17495528;17499042;17510434;17606899;17637753;17666587;17690249;17924679;17940139;17959601;18079403;18157150;18187655;18212344;18219272;18256232;18288197;1829677;18322460;18322535;18358809;18452278;18476782;18533032;18573884;18593880;18669648;18762174;18805503;18991276;19001364;19020303;19052544;1906035;19098913;19103666;19165350;19217410;19274700;19285943;19295514;19321454;19383337;1939271;19413330;19536130;19608861;19651622;19664994;19664995;19667075;19690332;19718048;19729311;19941815;19952111;20058876;20068231;20159561;20219941;20220130;20423332;20457598;20498280;20570965;20682797;20695905;20980672;21106759;21151129;2125285;21295486;21355848;21406692;21445275;21536652;21573489;2176635;2181374;21835891;21878914;21911577;21934649;21940756;22012619;22056668;22110043;22137580;22223895;22231121;22252320;22265404;22365833;22441827;22492511;22545144;22704330;22813749;22959432;22961380;22982363;22988298;23145106;23166507;23172872;23186163;23192763;23222130;23236153;23303788;23345524;23403292;23435229;23481700;23538671;23723241;23874216;23906331;23932780;24076191;24097444;24149845;24167369;24196718;24270878;24304693;24316715;24354960;24371278;24407421;24448447;2449431;24554720;24662513;24714562;24715725;24735615;24737827;24854081;24885040;24914973;24973012;24981863;24997600;24998469;2524422;25296600;25301780;25301781;25365482;25429106;25433557;25542856;25555158;25561469;25576301;2558966;25633194;25645385;25663755;25674852;25675981;25712099;25728767;26056233;26092250;26153859;26154972;26204489;26385511;26420826;26462610;26479350;26659056;26728094;26969736;26992070;27062924;27108190;27193682;27377154;27459055;27510544;27683217;27846572;27862975;27886276;28062851;28076346;28096519;2825027;28297668;28502770;28510447;28539435;28781166;28904123;28911096;29186539;2919170;29225078;29274231;29301961;29360106;29361316;2944599;29557506;2963332;29902443;30139799;30257008;30315277;3045126;30599162;30705154;30728453;30765414;30833945;30975767;31154438;31222486;31409651;31530632;31844290;31848261;32157095;32179686;32265295;32329775;32357974;32387766;32488085;32494006;32502341;3281094;32816001;32897882;32938616;32983136;33141586;33177556;33243851;33298915;33392160;33446560;33537174;33592498;33691108;33717175;33936100;33968037;34019948;34087483;34171305;34185709;34211107;34229054;34301950;34561969;34822310;3498214;35051231;35177536;35215846;35385551;35580925;36010968;36284347;3677090;37217939;3757028;37822142;37938771;39302247;40914422;6261960;7151173;7559524;7601352;7660122;7660129;7660130;7667268;7715707;7769657;7853496;7935485;7937828;8156590;8195246;8197458;8253082;8330735;8339931;8352591;8370526;8419924;8465201;8490964;8566756;8608946;8625415;8628262;8662660;8668525;8835860;8876171;8946909;9009278;9016565;9063748;9153304;9188510;9201922;9242493;9256425;9271388;9338790;9353262;9388265;9405375;9407024;9409616;9450929;9489704;9512519;9512541;9524131;9539711;9611253;9659921;9671459;9671485;9701291;9705341;9731529;9731700;9755184;9765293;9790902;9832505;9857195;9858549", "class_list": "", "function": "An AR motif of the transactivation domain has been identified that contributes to transcriptional activity by recruiting the C-terminal domain of subunit 1 of the general transcription regulator TFIIF., [RefSeq, PubMed]; Leptin prevents aberrant targeting of tau to hippocampal synapses via PI 3 kinase driven inhibition of GSK3beta., [RefSeq, PubMed]; TFIIF is a general transcription initiation factor that binds to RNA polymerase II and helps to recruit it to the initiation complex in collaboration with TFIIB. It promotes transcription elongation., [UniProtKB, PubMed, 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": 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": 38, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 21, "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": "B2RCS0;Q9BWN0", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0019904 protein domain specific binding;GO:0019903 protein phosphatase binding;GO:0019211 phosphatase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0032991 protein-containing complex;GO:0005669 transcription factor TFIID complex;GO:0005674 transcription factor TFIIF complex", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0032091 negative regulation of protein binding;GO:0009615 response to virus;GO:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter", "synthesized_glycan_count": 0, "hit_score": 47.6, "record_id": "P35269-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P53803-1", "uniprot_id": "RPAB4_HUMAN", "mass": 7004.0, "length": 58, "protein_name": "DNA-directed RNA polymerases I, II, and III subunit RPABC4", "gene_name": "POLR2K", "organism": "Human", "refseq_name": "DNA-directed RNA polymerases I, II, and III subunit RPABC4", "refseq_ac": "NP_005025", "gene_names_uniprotkb": "POLR2K", "gene_names_refseq": "ABC10-alpha; POLR2K; RPABC4; RPB10alpha; RPB12; RPB7.0; hRPB7.0; hsRPB10a", "protein_names_uniprotkb": "DNA-directed RNA polymerases I, II, and III subunit RPABC4; ABC10-alpha; DNA-directed RNA polymerase II subunit K; RNA polymerase II 7.0 kDa subunit; RNA polymerases I, II, and III subunit ABC4; RPB10alpha; RPB7.0", "protein_names_refseq": "DNA directed RNA polymerases I, II, and III 7.0 kda polypeptide; DNA-directed RNA polymerase II subunit K; DNA-directed RNA polymerases I, II, and III subunit RPABC4; RNA polymerase II 7.0 kDa subunit; RNA polymerases I, II, and III subunit ABC4; polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa; polymerase (RNA) II subunit K", "tax_id": 9606, "disease": "", "pathway": " (hsa:5440); (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-167238); (R-HSA-167242); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-168325); (R-HSA-1834949); (R-HSA-203927); (R-HSA-427413); (R-HSA-5250924); (R-HSA-5578749); (R-HSA-5601884); (R-HSA-5617472); (R-HSA-674695); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6796648); (R-HSA-6803529); (R-HSA-6807505); (R-HSA-72086); (R-HSA-72163); (R-HSA-72165); (R-HSA-72203); (R-HSA-73762); (R-HSA-73772); (R-HSA-73776); (R-HSA-73779); (R-HSA-73780); (R-HSA-73863); (R-HSA-73980); (R-HSA-749476); (R-HSA-75953); (R-HSA-75955); (R-HSA-76042); (R-HSA-76061); (R-HSA-76066); (R-HSA-76071); (R-HSA-77075); (R-HSA-8851708); (R-HSA-9018519); (R-HSA-9670095); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 56, "publication_count": 644, "publication_id_list": 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"class_list": "", "function": "DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and a small RNAs, such as 5S rRNA and tRNAs, respectively., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes one of the smallest subunits of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases. [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": 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": "Q6IBD4", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0001650 fibrillar center;GO:0005665 RNA polymerase II, core complex", "go_biological_process": "GO:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0006368 transcription elongation by RNA polymerase II;GO:0006362 transcription elongation by RNA polymerase I;GO:0006383 transcription by RNA polymerase III", "synthesized_glycan_count": 0, "hit_score": 64.7, "record_id": "P53803-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q03395-1", "uniprot_id": "ROM1_HUMAN", "mass": 37205.0, "length": 351, "protein_name": "Rod outer segment membrane protein 1", "gene_name": "ROM1", "organism": "Human", "refseq_name": "rod outer segment membrane protein 1", "refseq_ac": "NP_000318", "gene_names_uniprotkb": "ROM1; TSPAN23", "gene_names_refseq": "ROM1; ROM; ROSP1; RP7; TSPAN23", "protein_names_uniprotkb": "Rod outer segment membrane protein 1; ROSP1; Tetraspanin-23; Tspan-23", "protein_names_refseq": "rod outer segment membrane protein 1; tetraspanin-23", "tax_id": 9606, "disease": "retinitis pigmentosa 7 (Disease Ontology:DOID:0110383)", "pathway": " (hsa:6094)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;1610568;20335603;24715725;25576301;28053051;28539581;29242379;29786170;31154438;31844290;33592498;33680068;35353811;38253038;7904211;8202715;8504299;8595413;9331261", "class_list": "", "function": "Ablation of Rom1 results in the conversion of an MD/PD phenotype characterized by cone functional defects and the formation of abnormal Prph2/Rom1 complexes to an RP phenotype characterized by rod-dominant functional defects and reductions in total Prph2 protein. Thus one method by which ROM1 may act as a disease modifier is by contributing to the large variability in PRPH2-associated disease phenotype, [RefSeq, PubMed]; Our study unravels unexpected opposing roles of per(WT) and Rom-1 in rod outer segment (OS)targeting of adRP-linked peripherin-2 mutants and suggests a new treatment strategy for the affected individuals. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in rod outer segment (ROS) morphogenesis (By similarity). May play a role with PRPH2 in the maintenance of the structure of ROS curved disks (By similarity). Plays a role in the organization of the ROS and maintenance of ROS disk diameter (By similarity). Involved in the maintenance of the retina outer nuclear layer (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease. Publication Status: Online-Only, [RefSeq, PubMed]; The Outer Retinal Membrane Protein 1 Could Inhibit Lung Cancer Progression as a Tumor Suppressor. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease 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": 0, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R978", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042622 photoreceptor outer segment membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007601 visual perception", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q03395-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HBH0-1", "uniprot_id": "RHOF_HUMAN", "mass": 23625.0, "length": 211, "protein_name": "Rho-related GTP-binding protein RhoF", "gene_name": "RHOF", "organism": "Human", "refseq_name": "rho-related GTP-binding protein RhoF", "refseq_ac": "NP_061907", "gene_names_uniprotkb": "RHOF; ARHF; RIF", "gene_names_refseq": "ARHF; RHOF; RIF", "protein_names_uniprotkb": "Rho-related GTP-binding protein RhoF; 3.6.5.2; Rho family GTPase Rif; Rho in filopodia", "protein_names_refseq": "ras homolog family member F (in filopodia); ras homolog gene family, member F (in filopodia); rho family GTPase Rif; rho in filopodia; rho-related GTP-binding protein RhoF", "tax_id": 9606, "disease": "", "pathway": " (hsa:54509); (R-HSA-6798695); (R-HSA-9035034)", "pathway_count": 3, "publication_count": 51, "publication_id_list": "11084341;11237011;16777452;17765681;18663754;20068231;20233848;21119010;22251971;22260703;23096567;23481700;23650620;24715725;25668492;26154972;26375851;26768311;27278019;27481945;27846572;27920218;28218747;28228285;28510447;28832583;28904123;29242379;29393594;29508533;29557506;30315122;30484775;31844290;31871319;31937595;31998317;32161166;32350084;32357974;32502341;33141586;33298915;33912179;33936100;33968037;34211107;34357683;35051231;35580925;8692836", "class_list": "", "function": "Deletion of genes RHOF in early-stage mycosis fungoides., [RefSeq, PubMed]; In the present review, our aim is to summarize the current information about the Rif effectors and how Rif remodels actin cytoskeleton in many aspects. [Review] Review article, [RefSeq, PubMed]; Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. Causes the formation of thin, actin-rich surface projections called filopodia. Functions cooperatively with CDC42 and Rac to generate additional structures, increasing the diversity of actin-based morphology., [UniProtKB]; Rif GTPase is an alternative trigger of stress-fiber formation in epithelial cells., [RefSeq, PubMed]; Rif has two separate roles in FARP1 regulation-in controlling its association with plexinA4, and in releasing active RhoA from a plexinA4/FARP1 complex., [RefSeq, PubMed]; The authors show that enteropathogenic Escherichia coli translocates EspH, which inactivates mammalian RhoGEFs and triggers cytotoxicity. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene causes the formation of long, actin-rich filopodia. In combination with RAC1 and CDC42 it causes additional actin rearrangments, suggesting that this protein is intimately involved in regulation of the cytoskeleton., [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": 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": "Q8WVB1;Q9NXH6", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;3.4.24.11;3.1.3.48;3.4.11.2;2.4.1.-;2.4.1.275;2.4.1.22;2.4.1.38;2.4.1.90;3.6.1.-;1.2.1.5;1.2.1.28;1.2.1.7;1.2.1.48;3.6.4.-;3.6.5.4;3.1.3.-;3.1.3.95;2.7.11.1;1.16.1.-;7.6.2.-;3.6.-.-;3.6.1.15;3.4.22.-;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019901 protein kinase binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0030667 secretory granule membrane", "go_biological_process": "GO:0007015 actin filament organization;GO:0007165 signal transduction;GO:0016477 cell migration;GO:0032956 regulation of actin cytoskeleton organization;GO:0051056 regulation of small GTPase mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9HBH0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P18577-1", "uniprot_id": "RHCE_HUMAN", "mass": 45451.0, "length": 417, "protein_name": "Blood group Rh(CE) polypeptide", "gene_name": "RHCE", "organism": "Human", "refseq_name": "blood group Rh(CE) polypeptide isoform 4", "refseq_ac": "NP_619523", "gene_names_uniprotkb": "RHCE; RHC; RHE", "gene_names_refseq": "CD240CE; RH30A; RHCE; RHCe(152N); RHC; RHE; RHIXB; RHNA; RHPI; RH; Rh4; RhIVb(J); RhVIII; RhVI; SLC42A4", "protein_names_uniprotkb": "Blood group Rh(CE) polypeptide; Rh polypeptide 1; Rh30A; RhIXB; RhPI; Rhesus C/E antigens", "protein_names_refseq": "(C)ces type 1 Rhesus blood group D antigen; RHCE blood group variant Crawford antigen Rh43; RHCE*CeCw blood group antigen; Rh blood group C antigen; Rh blood group CE antigen; Rh blood group CcEe antigen cE_340T; Rh blood group CcEe antigens RHCE_916G; Rh blood group D antigen; Rh blood group antigen Evans; Rh blood group protein; Rh polypeptide I; RhCE blood group antigens; RhCE blood group antigen; RhD antigen; Rhesus blood group CE protein; Rhesus blood group CcEe antigen; Rhesus blood group E antigen; Rhesus blood group Rhce antigen; Rhesus blood group antigen CE; Rhesus system C and E polypeptides; blood group Rh(CE) polypeptide 144G RHCE; blood group Rh(CE) polypeptide 225A RHCE; blood group Rh(CE) polypeptide 341A RHCE; blood group Rh(CE) polypeptide 347G RHCE; blood group Rh(CE) polypeptide 537G RHCE; blood group Rh(CE) polypeptide 658C RHCE; blood group Rh(CE) polypeptide 718G RHCE; blood group Rh(CE) polypeptide 999A RHCE; blood group Rh(CE) polypeptide isoform 4; blood group Rh(CE) polypeptide; blood group RhCE polypeptide; blood group RhCcEe antigen; blood group protein RHCE; rh polypeptide 1; rhesus C/E antigens; rhesus blood group antigen, RhC antigen; rhesus blood group little e antigen; silenced Rh blood group CcEe antigen", "tax_id": 9606, "disease": "renal tubular acidosis (Disease Ontology:DOID:14219); Rh-null, amorph type (MIM:MIM:617970)", "pathway": " (hsa:6006); (R-HSA-9037628)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "11237011;11380456;11724987;11902138;12393640;1379850;1544931;1696722;1898705;2123099;25413218;3131772;3135863;3142870;3146980;35835865;36789463;37823181;38147558;39172775;7789951;7916743;8117271;8188244;8220426;8329720;9326237;9657769", "class_list": "", "function": "An intronic polymorphism associated with 2,3-bisphosphoglycerate levels in human red cells is linked to expression of RhCE blood groups., [RefSeq, PubMed]; Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane (PubMed:35835865). Mediates the primary membrane attachment site for ANK1 when associated with RHAG (PubMed:35835865). May participate in the ammonium and carbon dioxide transport through the heterotrimer form (Probable)., [UniProtKB, PubMed]; Genetic polymorphisms and expression of Rhesus blood group RHCE are associated with 2,3-bisphosphoglycerate in humans at high altitude., [RefSeq, PubMed]; Polymorphisms in the promoter regions of RHD and RHCE genes in the Chinese Han population., [RefSeq, PubMed]; RHCE variant alleles and risk of alloimmunization in Brazilians. Publication Status: Online-Only, [RefSeq, PubMed]; The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A1L3H056;A7DW68;B7UDF3;B7UDF4;B7UDF5;B7UDF6;B7UDF7;B7UDF8;B7UDF9;B7UDG0;B7UDG1;B7UDG2;B7UDG3;Q02163;Q02164;Q02165;Q16160;Q2MJW0;Q2VC86;Q3LTM6;Q6AZX5;Q6J2U3;Q7RU06;Q8IZT2;Q8IZT3;Q8IZT4;Q8IZT5;Q9UD13;Q9UD14;Q9UD15;Q9UD16;Q9UD73;Q9UD74;Q9UEC2;Q9UEC3;Q9UPN0", "ec_number_list": "", "go_molecular_function": "GO:0008519 ammonium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0170014 ankyrin-1 complex", "go_biological_process": "GO:0097272 ammonium homeostasis;GO:0072488 ammonium transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "P18577-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13017-1", "uniprot_id": "RHG05_HUMAN", "mass": 172460.0, "length": 1502, "protein_name": "Rho GTPase-activating protein 5", "gene_name": "ARHGAP5", "organism": "Human", "refseq_name": "rho GTPase-activating protein 5 isoform a", "refseq_ac": "NP_001025226", "gene_names_uniprotkb": "ARHGAP5; RHOGAP5", "gene_names_refseq": "ARHGAP5; GFI2; RhoGAP5; p190-B; p190BRhoGAP", "protein_names_uniprotkb": "Rho GTPase-activating protein 5; Rho-type GTPase-activating protein 5; p190-B", "protein_names_refseq": "growth factor independent 2; p100 RasGAP-associated p105 protein; p105 RhoGAP; rho GTPase-activating protein 5 isoform a; rho GTPase-activating protein 5; rho-type GTPase-activating protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:394); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013405); (R-HSA-9013406); (R-HSA-9013408); (R-HSA-9013409); (R-HSA-9013423); (R-HSA-9035034); (R-HSA-9696264); (R-HSA-9696270); (R-HSA-9696273)", "pathway_count": 15, "publication_count": 452, "publication_id_list": "10.1101/2023.09.13.557529;10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10619026;10652265;10664463;10699171;10699464;10724160;10873388;10873802;10958683;10967094;11007481;11058585;11085924;11149925;11185749;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11784792;11803464;11804587;11804589;11804590;11864571;11884391;11912491;11940653;11948177;11956649;11961559;11967128;12071859;12093360;12096337;12172552;12177196;12195014;12221077;12221096;12242347;12244061;12351724;12376551;12432077;12456725;12464619;12473120;12531887;12546821;12547822;12577064;12650940;12665586;12773384;12842009;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;14732713;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15546864;15579468;15601624;15611138;15710388;15728722;15738000;15850391;15858067;15866170;15897194;15944396;16002401;16112081;16116428;16184169;16217026;16243036;16339170;16467373;16473593;16481321;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777052;16777452;16777849;16862148;16896804;16914516;16917499;16968698;17027967;17064668;17077126;17145773;17196961;17198702;17214551;17244649;17322306;17562871;17583407;17599059;17702745;17765681;17804252;17916560;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18218625;18249095;18347018;18363964;18396277;18426980;18452278;18653540;18669648;18691976;18697831;18767875;18786931;18802007;18829452;18829532;18835169;18838382;18929667;18996843;19103606;19136556;19258391;19269969;19413330;19494238;19534724;19581409;19605563;19635168;19651622;19664994;19673492;19690332;19713215;19934221;20030946;20058876;20068231;20101212;20112406;20233848;20400958;20460433;20591975;20628200;20660154;20679435;20810653;20811643;21119010;21148482;21351730;21373644;21406692;21454492;21542010;21565175;21576392;21613211;21621533;21685891;21699497;21730051;21757538;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22665057;22673745;22734669;22790947;22911862;22970203;22971344;22992742;23029280;23087206;23096567;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23707487;23718289;23870313;23940355;24086303;24102721;24128008;24259668;24275569;24297911;24335996;24352656;24355937;24584464;24659802;24690281;24859002;24933155;24960694;24996924;25024229;25211221;25418920;25425145;25428919;25576301;25645385;25668492;25673874;25678704;25704760;25721503;25746724;25795300;25862245;25888806;25892735;25963737;26129894;26154972;26299518;26371245;26529257;26598554;26628301;26811146;26887924;26929215;26969432;26992070;27096001;27117132;27145964;27216196;27278019;27481945;27555588;27566826;27600516;27713499;27798618;27806292;27846572;27852748;27986909;28028151;28112683;28114311;28196833;28218747;28356423;28486133;28584191;28825699;28832583;28834231;28860633;28894085;28904123;28947137;29089502;29146911;29242379;29358323;29382922;29393594;29493099;29508533;29557506;29632046;29769354;29776664;29786170;30061681;30250020;30315122;30853411;31105010;31217245;31844290;31871319;32157095;32203420;32302585;32357974;32483433;32488085;32502341;32938616;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34185709;35051231;35318648;35580925;36010968;36178483;36215666;36241641;36284347;36632741;37938771;7476457;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8571126;8617235;8643598;8645157;8649376;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8945468;8990121;8994827;9013646;9099726;9111050;9113980;9252344;9268338;9305890;9405671;9418861;9438849;9490638;9497316;9531558;9535835;9548756;9582072;9659915;9670022;9792683;9822598;9822605;9829970;9843499;9846874;9857026;9988689", "class_list": "", "function": "Circular RNA ARHGAP5 inhibits cisplatin resistance in cervical squamous cell carcinoma by interacting with AUF1., [RefSeq, PubMed]; GTPase-activating protein for Rho family members (PubMed:8537347)., [UniProtKB, PubMed]; Investigation of the role and mechanism of ARHGAP5-mediated colorectal cancer metastasis. Erratum:[Theranostics. 2025 Jan 9;15(5):2085. doi: 10.7150/thno.108943. PMID: 39897546] Publication Status: Online-Only, [RefSeq, PubMed]; Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay., [RefSeq, PubMed]; These results indicate that SIRT1 suppresses migration and invasion of gastric cancer by downregulating ARHGAP5 through an interaction with c-JUN, and these phenomena represent a novel mechanism of the antitumor action of SIRT1. 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": 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": 17, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "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": "A1L375;A1L376;A8KAA1;D3DS89;D3DS90;Q05BE8;Q05BU8;Q59ER0;Q6DHZ3", "ec_number_list": "", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity;GO:0042169 SH2 domain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0007266 Rho protein signal transduction;GO:0030879 mammary gland development;GO:0008361 regulation of cell size", "synthesized_glycan_count": 0, "hit_score": 45.5, "record_id": "Q13017-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BQ48-1", "uniprot_id": "RM34_HUMAN", "mass": 10165.0, "length": 92, "protein_name": "Large ribosomal subunit protein bL34m", "gene_name": "MRPL34", "organism": "Human", "refseq_name": "large ribosomal subunit protein bL34m isoform a", "refseq_ac": "NP_076426", "gene_names_uniprotkb": "MRPL34", "gene_names_refseq": "L34mt; MRPL34; bL34m", "protein_names_uniprotkb": "Large ribosomal subunit protein bL34m; 39S ribosomal protein L34, mitochondrial; L34mt; MRP-L34", "protein_names_refseq": "39S ribosomal protein L34, mitochondrial; MRP-L34; large ribosomal subunit protein bL34m isoform a; mitochondrial large ribosomal subunit protein bL34m", "tax_id": 9606, "disease": "", "pathway": " (hsa:64981); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 49, "publication_id_list": "11237011;11279069;15358359;15944288;17547437;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21907147;22172991;2250005;23186163;23481700;25233460;25278503;25418920;25576301;25838379;26154972;27029019;28228285;28832583;28892042;29242379;29493099;29508533;29557506;29632046;31154438;31844290;31848261;31998317;32157095;33141586;33243891;33298915;33592498;33878294;33912179;34211107;34561969;35177605;36302763;36596788;37141370", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational 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": 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:0003735 structural constituent of ribosome", "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": 5.0, "record_id": "Q9BQ48-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WXF3-1", "uniprot_id": "REL3_HUMAN", "mass": 15451.0, "length": 142, "protein_name": "Relaxin-3", "gene_name": "RLN3", "organism": "Human", "refseq_name": "relaxin-3 precursor", "refseq_ac": "NP_001298126", "gene_names_uniprotkb": "RLN3; INSL7; PRO20213; RXN3; ZINS4", "gene_names_refseq": "H3; RLN3; RXN3; ZINS4; insl7", "protein_names_uniprotkb": "Relaxin-3; Insulin-like peptide 7; Insulin-like peptide INSL7; Prorelaxin H3", "protein_names_refseq": "insulin-like peptide 7; insulin-like peptide INSL7; prorelaxin H3; relaxin-3 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:117579); (R-HSA-418555); (R-HSA-418594); (R-HSA-444821)", "pathway_count": 4, "publication_count": 73, "publication_id_list": "11007482;11237011;12036966;12058044;12106601;12120503;12180353;12506116;12686464;12860470;12975309;13549488;14522967;14522968;14671004;1517224;15525639;15765929;15769620;15951850;16313925;16365033;16634148;16687412;16923326;17168849;18044684;18434541;18577758;19105585;19876791;19929708;20381629;21036126;2163110;2417744;24687066;2491850;2534964;2553411;2553705;26417854;2748346;27498038;27888281;2834384;2871555;28786126;29443750;29602314;30833991;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;33049737;34537263;37967073;6085243;7937899;8015379;8340388;8406495;8514797;8672451;9263355;9417641;9651336", "class_list": "", "function": "GPCR135 is the receptor for relaxin-3, [RefSeq, PubMed]; Investigating the role of the relaxin-3/RXFP3 system in neuropsychiatric disorders and metabolic phenotypes: A candidate gene approach. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in neuropeptide signaling processes. Ligand for LGR7, RXFP3 and RXFP4., [UniProtKB]; Relaxin-3 is a high-efficacy agonist at RXFP4 with a comparable signal transduction profile to INSL5., [RefSeq, PubMed]; Relaxin-3/INSL7 is a ligand for GPCR142, [RefSeq, PubMed]; Serum level of relaxin-3 hormone is an important mediator in the pathophysiological process of normal puberty being significantly decreased in males with delayed puberty., [RefSeq, PubMed]; The putative role of the relaxin-3/RXFP3 system in clinical depression and anxiety: A systematic literature review., [RefSeq, PubMed]; Therefore, we conclude that stapling of the relaxin3 B chain does not compromise its ability to activate RXFP3 and is a promising method for developing stable peptide agonists and antagonists of RXFP3 to aid relaxin-3/RXFP3 research., [RefSeq, PubMed]; This gene encodes a member of the relaxin family of insulin-like hormones that is expressed predominantly in the brain and plays a role in physiological processes such as stress, memory and appetite regulation. The encoded protein is a precursor that is proteolytically processed to generate a heterodimeric mature form consisting A and B chains interlinked by disulfide bonds. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]., [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": 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": "Q6UXW5", "ec_number_list": "", "go_molecular_function": "GO:0001664 G protein-coupled receptor binding;GO:0005179 hormone activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q8WXF3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15244-1", "uniprot_id": "S22A2_HUMAN", "mass": 62581.0, "length": 555, "protein_name": "Solute carrier family 22 member 2", "gene_name": "SLC22A2", "organism": "Human", "refseq_name": "solute carrier family 22 member 2", "refseq_ac": "NP_003049", "gene_names_uniprotkb": "SLC22A2; OCT2", "gene_names_refseq": "OCT2; SLC22A2", "protein_names_uniprotkb": "Solute carrier family 22 member 2; Organic cation transporter 2; hOCT2", "protein_names_refseq": "organic cation transporter 2; solute carrier family 22 (organic cation transporter), member 2; solute carrier family 22 member 2", "tax_id": 9606, "disease": "kidney failure (Disease Ontology:DOID:1074); extrahepatic cholestasis (Disease Ontology:DOID:13619); intrahepatic cholestasis (Disease Ontology:DOID:1852); hyperuricemia (Disease Ontology:DOID:1920); acute kidney failure (Disease Ontology:DOID:3021); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:6582); (R-HSA-112311); (R-HSA-181430); (R-HSA-2161517); (R-HSA-442660); (R-HSA-549127)", "pathway_count": 6, "publication_count": 105, "publication_id_list": "10072434;10196521;10446133;10684912;10889531;10942111;10966924;10973981;11053835;11105732;11237011;11698620;11897791;11907186;11912245;12089149;12089365;12115694;12142729;12151341;12372408;12384147;12395288;12519779;12538837;14608356;14674884;15107849;15184985;15212162;15286787;15286788;15496291;15592994;15632147;15783073;15795384;15817714;15935055;16006492;16226721;16263091;16272756;16314463;16330770;16394027;16581093;16751771;16788146;16807400;16914559;16951202;17072098;17111267;17301226;17393420;17437964;17460754;17478680;1748670;17502375;17509534;17686774;17709369;17726476;17766642;17891149;18457821;18599538;19141712;2008212;20103563;21128598;2387399;24961373;26522469;26979622;27846572;29557506;31844290;31848261;35051231;35163014;35163393;35307651;36331012;40972734;7651355;7874447;7989337;8095030;8125921;8183239;8211186;8632143;8647271;9260930;9520460;9655880;9685390;9687576;9701566;9744804;9845349;9861027", "class_list": "", "function": "Electrogenic voltage-dependent uniporter that mediates the transport of a variety of organic cations such as endogenous bioactive amines, cationic drugs and xenobiotics (PubMed:9260930, PubMed:9687576). Functions as a Na(+)-independent, bidirectional uniporter (PubMed:21128598, PubMed:9687576). Cation cellular uptake or release is driven by the electrochemical potential, i.e. membrane potential and concentration gradient (PubMed:15212162, PubMed:9260930, PubMed:9687576). However, may also engage electroneutral cation exchange when saturating concentrations of cation substrates are reached (By similarity). Predominantly expressed at the basolateral membrane of hepatocytes and proximal tubules and involved in the uptake and disposition of cationic compounds by hepatic and renal clearance from the blood flow (PubMed:15783073). Implicated in monoamine neurotransmitters uptake such as histamine, dopamine, adrenaline/epinephrine, noradrenaline/norepinephrine, serotonin and tyramine, thereby supporting a physiological role in the central nervous system by regulating interstitial concentrations of neurotransmitters (PubMed:16581093, PubMed:17460754, PubMed:9687576). Also capable of transporting dopaminergic neuromodulators cyclo(his-pro), salsolinol and N-methyl-salsolinol, thereby involved in the maintenance of dopaminergic cell integrity in the central nervous system (PubMed:17460754). Mediates the bidirectional transport of acetylcholine (ACh) at the apical membrane of ciliated cell in airway epithelium, thereby playing a role in luminal release of ACh from bronchial epithelium (PubMed:15817714). Also transports guanidine and endogenous monoamines such as vitamin B1/thiamine, creatinine and N-1-methylnicotinamide (NMN) (PubMed:12089365, PubMed:15212162, PubMed:17072098, PubMed:24961373, PubMed:9260930). Mediates the uptake and efflux of choline (PubMed:9260930). Mediates the bidirectional transport of polyamine agmatine and the uptake of polyamines putrescine and spermidine (PubMed:12538837, PubMed:21128598). Able to transport non-amine endogenous compounds such as prostaglandin E2 (PGE2) and prostaglandin F2-alpha (PGF2-alpha) (PubMed:11907186). Also involved in the uptake of xenobiotic 4-(4-(dimethylamino)styryl)-N-methylpyridinium (ASP) (PubMed:12395288, PubMed:16394027). May contribute to regulate the transport of organic compounds in testis across the blood-testis-barrier (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; In contrast with isoform 1, not able to transport guanidine, creatinine, cimetidine and metformin., [UniProtKB, PubMed, PubMed, PubMed]; Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008]., [RefSeq]; Role of Organic Cation Transporter 2 in Autophagy Induced by Platinum Derivatives. Publication Status: Online-Only, [RefSeq, PubMed]; The SLC22A2 gene is a determinant of hematological toxicity of oxaliplatin in patients with colorectal cancer., [RefSeq, PubMed]; Transport Turnover Rates for Human OCT2 and MATE1 Expressed in Chinese Hamster Ovary Cells. 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": 15, "reported_glycation": 0, "reported_snv": 20, "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": "Q5T7Q6;Q6PIQ8;Q8NG62;Q9NQB9", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005326 neurotransmitter transmembrane transporter activity;GO:0015651 quaternary ammonium group transmembrane transporter activity;GO:0042910 xenobiotic transmembrane transporter activity;GO:0015179 L-amino acid transmembrane transporter activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0015870 acetylcholine transport;GO:0015695 organic cation transport;GO:0006811 monoatomic ion transport;GO:0055085 transmembrane transport;GO:0015872 dopamine transport", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "O15244-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86UA6-1", "uniprot_id": "RIP_HUMAN", "mass": 24770.0, "length": 219, "protein_name": "RPA-interacting protein", "gene_name": "RPAIN", "organism": "Human", "refseq_name": "RPA-interacting protein isoform a", "refseq_ac": "NP_001153715", "gene_names_uniprotkb": "RPAIN; RIP", "gene_names_refseq": "HRIP; RIP; RPAIN", "protein_names_uniprotkb": "RPA-interacting protein; hRIP", "protein_names_refseq": "RAP interaction protein; RPA-interacting protein isoform a; nuclear transporter", "tax_id": 9606, "disease": "", "pathway": " (hsa:84268)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "16008515;16135809;19336370;19413330;20237496;21360055;23010595;23186163;25645385;28032589;28832583;29242379;29493099;29557506;29632711;29786170;30379171;30784271;30833945;31844290;32157095;32502341;32897882;32983136;33141586;33592498;33717175;33936100;33968037;33981976;34171305;34932366;35051231;35561310;35580925", "class_list": "", "function": "HRIPalpha is involved in cell proliferation through regulation of RPA transport, [RefSeq, PubMed]; HRIPbeta localises to the PML nuclear body and transports replication protein A (PML) into the PML nuclear body and releases RPA upon UV irradiation., [RefSeq, PubMed]; Mediates the import of RPA complex into the nucleus, possibly via some interaction with importin beta. Isoform 2 is sumoylated and mediates the localization of RPA complex into the PML body of the nucleus, thereby participating in RPA function in DNA metabolism., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Suggest that increased RPAIN levels may contribute to the development of preeclampsia through regulating trophoblast invasion and apoptosis via C1q., [RefSeq, PubMed]; The results show that DDX3, eIF5A, and hRIP enhance HIV-1 internal ribosomal entry site-mediated translation., [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": 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": "A0A0B4J1T3;B4DI36;B4DTX7;E9PDG9;E9PES3;J3KNH8;Q4G2Y0;Q4G2Y5;Q4G2Y8;Q6B4V9;Q6B4W0;Q6B4W1;Q6B4W4;Q86X49;Q9BT00", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016605 PML body", "go_biological_process": "GO:0009411 response to UV;GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q86UA6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5BKX6-1", "uniprot_id": "S45A4_HUMAN", "mass": 83878.0, "length": 768, "protein_name": "Polyamine-transporter SLC45A4", "gene_name": "SLC45A4", "organism": "Human", "refseq_name": "polyamine-transporter SLC45A4 isoform 1", "refseq_ac": "NP_001273575", "gene_names_uniprotkb": "SLC45A4; KIAA1126", "gene_names_refseq": "SLC45A4", "protein_names_uniprotkb": "Polyamine-transporter SLC45A4; Solute carrier family 45 member 4", "protein_names_refseq": "polyamine-transporter SLC45A4 isoform 1; polyamine-transporter SLC45A4", "tax_id": 9606, "disease": "", "pathway": " (hsa:57210)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;18669648;23186163;25505266;27920218;29314611;29331515;29393594;32387766;33968037;34010493;34357683;35051231;37775036;40836097;41075780", "class_list": "", "function": "Neuronal polyamine-transporter involved in pain perception (PubMed:40836097, PubMed:41075780). Transports polyamines such as putrescine, cadaverine, spermine and spermidine (PubMed:40836097, PubMed:41075780). Expressed in sensory neuron subtypes within the dorsal root ganglion, where it regulates the excitability of C-polymodal nociceptors by mediating polyamine transport (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Neuronal polyamine-transporter involved in pain perception. Transports polyamines such as putrescine, cadaverine, spermine and spermidine. Expressed in sensory neuron subtypes within the dorsal root ganglion, where it regulates the excitability of C-polymodal nociceptors by mediating polyamine transport., [UniProtKB, UniProtKB]; SLC45A4 promotes glycolysis and prevents AMPK/ULK1-induced autophagy in TP53 mutant pancreatic ductal adenocarcinoma., [RefSeq, PubMed]; The Slc45a4 Gene Regulates Pigmentation in a Manner Distinct from that of the OCA4 Gene Slc45a2., [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": 11, "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": "Q6ZRI2;Q9ULU3", "ec_number_list": "", "go_molecular_function": "GO:0008506 sucrose:proton symporter activity;GO:0015489 putrescine transmembrane transporter activity;GO:0015203 polyamine transmembrane transporter activity;GO:0015606 spermidine transmembrane transporter activity;GO:0000297 spermine transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0019233 sensory perception of pain;GO:0015770 sucrose transport;GO:0048266 behavioral response to pain", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q5BKX6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43511-1", "uniprot_id": "S26A4_HUMAN", "mass": 85723.0, "length": 780, "protein_name": "Pendrin", "gene_name": "SLC26A4", "organism": "Human", "refseq_name": "pendrin", "refseq_ac": "NP_000432", "gene_names_uniprotkb": "SLC26A4; PDS", "gene_names_refseq": "DFNB4; EVA; PDS; SLC26A4; TDH2B", "protein_names_uniprotkb": "Pendrin; Sodium-independent chloride/iodide transporter; Solute carrier family 26 member 4", "protein_names_refseq": "pendrin; sodium-independent chloride/iodide transporter; solute carrier family 26 (anion exchanger), member 4", "tax_id": 9606, "disease": "Pendred Syndrome (Disease Ontology:DOID:0060744); autosomal recessive nonsyndromic deafness 4 (Disease Ontology:DOID:0110498); goiter (Disease Ontology:DOID:12176)", "pathway": " (hsa:5172); (R-HSA-427601); (R-HSA-5619046)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "10190331;10192399;10602116;10644529;10700480;10718825;10878664;10902795;11237011;11247665;11274445;11317356;11375792;11748854;11829495;11834742;11919333;11932316;12107249;12626430;12642503;12676893;12788906;12974744;14508505;14679580;15155570;15355436;15531480;15591059;15679828;15689455;16684826;16914891;17146393;17503324;17673510;17718863;17940114;18285825;18310264;19204907;19426954;20108392;20597900;24051746;25576301;25892735;27535533;28228285;28281779;28832583;29242379;29331515;29769354;30524438;30760291;31844290;32157095;33091337;34019948;35051231;35601831;38673775;38720048;39383236;39414589;7683425;8541853;8896562;9398842;9500541;9618166;9618167;9920104", "class_list": "glycogene", "function": "Chloride/Multiple Anion Exchanger SLC26A Family: Systemic Roles of SLC26A4 in Various Organs. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]., [RefSeq]; SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma membrane abundance in the endolymphatic sac., [RefSeq, PubMed]; Sodium-independent transporter of chloride and iodide (PubMed:10192399, PubMed:11932316, PubMed:12107249, PubMed:16684826, PubMed:24051746). Mediates electroneutral chloride-bicarbonate, chloride-iodide and chloride-formate exchange with 1:1 stoichiometry (PubMed:10644529, PubMed:15155570, PubMed:24051746, PubMed:35601831). Mediates electroneutral iodide-bicarbonate exchange (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; [Auditory characteristics and disease progression trends of patients with common recessive deafness genes GJB2 and SLC26A4]., [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": 1509, "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": "B7Z266;O43170", "ec_number_list": "1.8.-.-;1.8.5.1;1.11.1.-;5.6.1.6", "go_molecular_function": "GO:0015111 iodide transmembrane transporter activity;GO:0015108 chloride transmembrane transporter activity;GO:0019531 oxalate transmembrane transporter activity;GO:0008271 secondary active sulfate transmembrane transporter activity;GO:0015116 sulfate transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane;GO:0031526 brush border membrane", "go_biological_process": "GO:0055085 transmembrane transport;GO:0032880 regulation of protein localization;GO:0007605 sensory perception of sound;GO:0015705 iodide transport;GO:1902476 chloride transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "O43511-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P52434-1", "uniprot_id": "RPAB3_HUMAN", "mass": 17143.0, "length": 150, "protein_name": "DNA-directed RNA polymerases I, II, and III subunit RPABC3", "gene_name": "POLR2H", "organism": "Human", "refseq_name": "DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 1", "refseq_ac": "NP_001265627", "gene_names_uniprotkb": "POLR2H", "gene_names_refseq": "POLR2H; RPABC3; RPB17; RPB8", "protein_names_uniprotkb": "DNA-directed RNA polymerases I, II, and III subunit RPABC3; DNA-directed RNA polymerase II subunit H; DNA-directed RNA polymerases I, II, and III 17.1 kDa polypeptide; RNA polymerases I, II, and III subunit ABC3; RPB17; RPB8 homolog; hRPB8", "protein_names_refseq": "DNA-directed RNA polymerase II subunit H; DNA-directed RNA polymerases I, II, and III 17.1 kDa polypeptide; DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 1; DNA-directed RNA polymerases I, II, and III subunit RPABC3; RPB8 homolog; polymerase (RNA) II (DNA directed) polypeptide H; polymerase (RNA) II subunit H", "tax_id": 9606, "disease": "", "pathway": " (hsa:5437); (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-167238); (R-HSA-167242); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-168325); (R-HSA-1834949); (R-HSA-203927); (R-HSA-427413); (R-HSA-5250924); (R-HSA-5578749); (R-HSA-5601884); (R-HSA-5617472); (R-HSA-674695); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6796648); (R-HSA-6803529); (R-HSA-6807505); (R-HSA-72086); (R-HSA-72163); (R-HSA-72165); (R-HSA-72203); (R-HSA-73762); (R-HSA-73772); (R-HSA-73776); (R-HSA-73779); (R-HSA-73780); (R-HSA-73863); (R-HSA-73980); (R-HSA-749476); (R-HSA-75953); (R-HSA-75955); (R-HSA-76042); (R-HSA-76061); (R-HSA-76066); (R-HSA-76071); (R-HSA-77075); (R-HSA-8851708); (R-HSA-9018519); (R-HSA-9670095); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 56, "publication_count": 684, "publication_id_list": 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"class_list": "", "function": "DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The three eukaryotic RNA polymerases are complex multisubunit enzymes that play a central role in the transcription of nuclear genes. This gene encodes an essential and highly conserved subunit of RNA polymerase II that is shared by the other two eukaryotic DNA-directed RNA polymerases, I and III. Alternative splicing results in multiple transcript variants of this gene. [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": 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": "C9J413;C9JBJ6;C9JCU7;C9JUA8;P53802;Q969R0", "ec_number_list": "", "go_molecular_function": "GO:0003697 single-stranded DNA binding;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0032993 protein-DNA complex;GO:0005665 RNA polymerase II, core complex", "go_biological_process": "GO:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0006368 transcription elongation by RNA polymerase II;GO:0006362 transcription elongation by RNA polymerase I;GO:0006383 transcription by RNA polymerase III", "synthesized_glycan_count": 0, "hit_score": 68.5, "record_id": "P52434-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P62487-1", "uniprot_id": "RPB7_HUMAN", "mass": 19294.0, "length": 172, "protein_name": "DNA-directed RNA polymerase II subunit RPB7", "gene_name": "POLR2G", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase II subunit RPB7", "refseq_ac": "NP_002687", "gene_names_uniprotkb": "POLR2G; RPB7", "gene_names_refseq": "POLR2G; RPB19; RPB7; hRPB19; hsRPB7", "protein_names_uniprotkb": "DNA-directed RNA polymerase II subunit RPB7; DNA-directed RNA polymerase II subunit G; RNA polymerase II 19 kDa subunit; RNA polymerase II subunit B7; RPB19", "protein_names_refseq": "DNA directed RNA polymerase II 19 kda polypeptide; DNA-directed RNA polymerase II 19 kDa polypeptide; DNA-directed RNA polymerase II subunit G; DNA-directed RNA polymerase II subunit RPB7; RNA polymerase II 19 kDa subunit; RNA polymerase II seventh subunit; RNA polymerase II subunit B7; polymerase (RNA) II (DNA directed) polypeptide G; polymerase (RNA) II subunit G", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:5436); (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-167238); (R-HSA-167242); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-168325); (R-HSA-203927); (R-HSA-5578749); (R-HSA-5601884); (R-HSA-5617472); (R-HSA-674695); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6796648); (R-HSA-6803529); (R-HSA-6807505); (R-HSA-72086); (R-HSA-72163); (R-HSA-72165); (R-HSA-72203); (R-HSA-73776); (R-HSA-73779); (R-HSA-75953); (R-HSA-75955); (R-HSA-76042); (R-HSA-77075); (R-HSA-8851708); (R-HSA-9018519); (R-HSA-9670095); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 44, "publication_count": 621, "publication_id_list": 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"class_list": "", "function": "Core component of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase which synthesizes mRNA precursors and many functional non-coding RNAs using the four ribonucleoside triphosphates as substrates. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. POLR2G/RPB7 is part of a subcomplex with POLR2D/RPB4 that binds to a pocket formed by POLR2A/RPB1, POLR2B/RPB2 and POLR2F/RPABC2 at the base of the clamp element. The POLR2D/RPB4-POLR2G/RPB7 subcomplex seems to lock the clamp via POLR2G/RPB7 in the closed conformation thus preventing double-stranded DNA to enter the active site cleft. The POLR2D/RPB4-POLR2G/RPB7 subcomplex binds single-stranded DNA and RNA., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Study of datasets analyzing the gene expression profiles and DNA methylation data of gestational Diabetes Mellitus (GDM) and confirmed through real time PCR in placenta tissue of three GDM samples and three normal samples identified Oas1, Ppie, Polr2g as possible pathogenic target genes of GDM by combining protein-protein interaction analysis. Publication Status: Online-Only, [RefSeq, PubMed]; The emerging transcript cross-links to the Rpb7 subunit of RNA polymerase II in various complexes containing 26- to 32-nt transcripts, [RefSeq, PubMed]; This gene encodes the seventh largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The protein functions in transcription initiation, and is also thought to help stabilize transcribing polyermase molecules during elongation. [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": 0, "reported_mutagensis": 12, "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": "B2R5C0;P52433;Q2M1Z4", "ec_number_list": "", "go_molecular_function": "GO:0003727 single-stranded RNA binding;GO:0003697 single-stranded DNA binding;GO:0031369 translation initiation factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000932 P-body;GO:0005665 RNA polymerase II, core complex;GO:0000428 DNA-directed RNA polymerase complex", "go_biological_process": "GO:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0006368 transcription elongation by RNA polymerase II;GO:0000956 nuclear-transcribed mRNA catabolic process;GO:0060213 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening", "synthesized_glycan_count": 0, "hit_score": 62.2, "record_id": "P62487-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ICL7-1", "uniprot_id": "S35E4_HUMAN", "mass": 36747.0, "length": 350, "protein_name": "Solute carrier family 35 member E4", "gene_name": "SLC35E4", "organism": "Human", "refseq_name": "solute carrier family 35 member E4 isoform 1", "refseq_ac": "NP_001001479", "gene_names_uniprotkb": "SLC35E4", "gene_names_refseq": "SLC35E4", "protein_names_uniprotkb": "Solute carrier family 35 member E4", "protein_names_refseq": "solute carrier family 35 member E4 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:339665)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;18477386;23481700;25576301;25645385;25892735;27600516;27846572;28228285;29769354;29786170;29789417;30315122;30779550;31844290;32157095;32387766;32502341;32938616;34405274", "class_list": "", "function": "Putative transporter., [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": 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": "Q567P0", "ec_number_list": "", "go_molecular_function": "GO:0015297 antiporter activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0055085 transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q6ICL7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NWZ5-1", "uniprot_id": "UCKL1_HUMAN", "mass": 61141.0, "length": 548, "protein_name": "Uridine-cytidine kinase-like 1", "gene_name": "UCKL1", "organism": "Human", "refseq_name": "uridine-cytidine kinase-like 1 isoform 2", "refseq_ac": "NP_001180308", "gene_names_uniprotkb": "UCKL1; F538; URKL1", "gene_names_refseq": "UCK1L; UCKL1; URKL1", "protein_names_uniprotkb": "Uridine-cytidine kinase-like 1; 2.7.1.48", "protein_names_refseq": "UCK1-LIKE; uridine-cytidine kinase-like 1 isoform 2; uridine-cytidine kinase-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54963); (R-HSA-73614)", "pathway_count": 2, "publication_count": 108, "publication_id_list": "1063125;11237011;11306702;12199906;12429345;12808445;12849978;1406603;14609716;14725767;15130468;15689149;15733844;1590793;1597187;16709802;16964243;18669648;18691976;19291308;195585;19651622;19653100;19690332;1996353;20068231;2026611;20722631;21406692;22544926;22898188;23186163;23301498;23481700;24715725;2539852;2542307;2548513;25576301;25645385;25892735;26154972;26375851;26992070;27600516;27846572;27920218;28228285;2844225;28514659;28832583;28834231;28904123;29242379;29393594;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30344298;30429286;30484775;30524438;31092671;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;3335503;33592498;33691108;3372530;33912179;33936100;33968037;33981976;34087483;34211107;34405274;34509645;34561969;35051231;35580925;35583288;36010968;36241641;36581221;7284378;7488099;7923172;8340387;9804782;9989599", "class_list": "", "function": "Characterization of uridine-cytidine kinase like-1 nucleoside kinase activity and its role in tumor growth., [RefSeq, PubMed]; Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate., [UniProtKB, PubMed]; The presence of IL28B rs8099917 TT and rs12979860 CC SNPs, but not the intensity of UCKL-1 expression, is strongly associated with increased chances of Hepatocellular Carcinoma development in hepatitis C virus -positive cirrhotic patients. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a uridine kinase. Uridine kinases catalyze the phosphorylation of uridine to uridine monophosphate. This protein has been shown to bind to Epstein-Barr nuclear antigen 3 as well as natural killer lytic-associated molecule. Ubiquitination of this protein is enhanced by the presence of natural killer lytic-associated molecule. In addition, protein levels decrease in the presence of natural killer lytic-associated molecule, suggesting that association with natural killer lytic-associated molecule results in ubiquitination and subsequent degradation of this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]., [RefSeq]; These results indicate a role for UCKL-1 in tumor cell survival., [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": 8, "reported_mutagensis": 0, "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": "B7Z8N2;Q5JWV0;Q70AQ5;Q8N524;Q9H3Z2", "ec_number_list": "2.7.1.48", "go_molecular_function": "GO:0005524 ATP binding;GO:0004849 uridine kinase activity;GO:0043771 cytidine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0043097 pyrimidine nucleoside salvage;GO:0044206 UMP salvage;GO:0044211 CTP salvage;GO:0008655 pyrimidine-containing compound salvage", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q9NWZ5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TDP1-1", "uniprot_id": "RNH2C_HUMAN", "mass": 17840.0, "length": 164, "protein_name": "Ribonuclease H2 subunit C", "gene_name": "RNASEH2C", "organism": "Human", "refseq_name": "ribonuclease H2 subunit C", "refseq_ac": "NP_115569", "gene_names_uniprotkb": "RNASEH2C; AYP1", "gene_names_refseq": "AGS3; AYP1; RNASEH2C", "protein_names_uniprotkb": "Ribonuclease H2 subunit C; AGS3; Aicardi-Goutieres syndrome 3 protein; RNase H1 small subunit; RNase H2 subunit C; Ribonuclease HI subunit C", "protein_names_refseq": "RNase H1 small subunit; RNase H2 subunit C; aicardi-Goutieres syndrome 3 protein; ribonuclease H2 subunit C; ribonuclease HI subunit C", "tax_id": 9606, "disease": "Aicardi-Goutieres syndrome (Disease Ontology:DOID:0050629)", "pathway": " (hsa:84153)", "pathway_count": 1, "publication_count": 66, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16845400;17846997;19413330;20131292;21177858;22223895;23186163;23481700;24715725;25418920;25576301;25802875;25810538;26154972;26375851;26992070;27600516;27846572;27920218;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30484775;30779550;31217245;31844290;32157095;32357974;32502341;32897882;32983136;33141586;33298915;33353557;33392160;33537174;33592498;33936100;33968037;34171305;34185709;34211107;34561969;34932366;35051231;35318648;35580925;36010968;36215666;36241641;37092250;37938771;8244390", "class_list": "", "function": "Describes an RNASEH2C pseudogene that is located close to the SRY gene on chromosome Y., [RefSeq, PubMed]; Germline variation of Ribonuclease H2 genes in ovarian cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes., [UniProtKB, PubMed, PubMed]; RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutieres syndrome 3., [RefSeq, PubMed]; This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) 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": 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": 4, "reported_interactions": 0, "missing_score": 9803, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9H7F5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0032299 ribonuclease H2 complex", "go_biological_process": "GO:0006298 mismatch repair;GO:0006401 RNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q8TDP1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBD6-1", "uniprot_id": "RHCG_HUMAN", "mass": 53179.0, "length": 479, "protein_name": "Ammonium transporter Rh type C", "gene_name": "RHCG", "organism": "Human", "refseq_name": "ammonium transporter Rh type C", "refseq_ac": "NP_001307970", "gene_names_uniprotkb": "RHCG; C15orf6; CDRC2; PDRC2; RHGK", "gene_names_refseq": "C15orf6; PDRC2; RHCG; RHGK; SLC42A3", "protein_names_uniprotkb": "Ammonium transporter Rh type C; Rh family type C glycoprotein; Rh glycoprotein kidney; Rh type C glycoprotein; Rhesus blood group family type C glycoprotein; Tumor-related protein DRC2", "protein_names_refseq": "Rh type C glycoprotein; Rhesus blood group, C glycoprotein; ammonium transporter Rh type C; rh family type C glycoprotein; rh glycoprotein kidney; rhesus blood group family type C glycoprotein; tumor-related protein DRC2", "tax_id": 9606, "disease": "metabolic acidosis (Disease Ontology:DOID:0050758); kidney failure (Disease Ontology:DOID:1074); renal tubular acidosis (Disease Ontology:DOID:14219); hypokalemia (Disease Ontology:DOID:4500)", "pathway": " (hsa:51458); (R-HSA-444411)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10852913;11024028;11062476;11237011;11861637;12204676;14761968;15284342;15929723;16477434;16580862;20457942;24077989;29557506;30833945;31611695;31756312;32350084;33968037;35051231;37664450;9454778", "class_list": "", "function": "Ammonium transporter involved in the maintenance of acid-base homeostasis. Transports ammonium and its related derivative methylammonium across the plasma membrane of epithelial cells likely contributing to renal transepithelial ammonia transport and ammonia metabolism. Postulated to primarily mediate an electroneutral bidirectional transport of NH3 ammonia species according to a mechanism that implies interaction of an NH4(+) ion with acidic residues of the pore entry followed by dissociation of NH4(+) into NH3 and H(+). As a result NH3 transits through the central pore and is protonated on the extracellular side reforming NH4(+) (PubMed:11062476, PubMed:14761968, PubMed:15929723, PubMed:16477434, PubMed:16580862, PubMed:24077989). May act as a CO2 channel providing for renal acid secretion (PubMed:24077989)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Comprehensive Analysis to Identify Rh Family C Glycoprotein (RHCG) as the Causative Gene for Psoriasis and Search for Alternative Treatment Modalities. Publication Status: Online-Only, [RefSeq, PubMed]; High RhCG level was correlated with poor prognosis of gastric cancer patients., [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": 4, "reported_glycation": 0, "reported_snv": 13, "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": "A8K4D4;Q6X3Y4", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0008519 ammonium channel activity;GO:0035379 carbon dioxide transmembrane transporter activity;GO:0030506 ankyrin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0097272 ammonium homeostasis;GO:0070634 transepithelial ammonium transport;GO:0030855 epithelial cell differentiation;GO:0042592 homeostatic process;GO:0015837 amine transport", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9UBD6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H6L5-1", "uniprot_id": "RETR1_HUMAN", "mass": 54681.0, "length": 497, "protein_name": "Reticulophagy regulator 1", "gene_name": "RETREG1", "organism": "Human", "refseq_name": "reticulophagy regulator 1 isoform 1", "refseq_ac": "NP_001030022", "gene_names_uniprotkb": "RETREG1; FAM134B; JK1", "gene_names_refseq": "FAM134B; JK-1; JK1; RETREG1", "protein_names_uniprotkb": "Reticulophagy regulator 1; Reticulophagy receptor 1", "protein_names_refseq": "family with sequence similarity 134 member B; protein FAM134B; reticulophagy receptor 1; reticulophagy receptor FAM134B; reticulophagy regulator 1 isoform 1", "tax_id": 9606, "disease": "hereditary sensory and autonomic neuropathy type 2B (Disease Ontology:DOID:0070150)", "pathway": " (hsa:54463); (R-HSA-9920951)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "11237011;17487424;19838196;21115472;21127458;22302274;24327336;24825067;24973451;25502872;25892735;26040720;27108190;29508533;29557506;29769354;29786170;31844290;31848261;31930741;32502341;32620754;34087483;34185709;34338405;34854256;35051231;35154160;35239449;35580925;36056188;36310878;37460952;37728036;38774969", "class_list": "", "function": "(Microbial infection) During SARS-CoV-2 infection, RETREG1-mediated reticulophagy is promoted by SARS-CoV-2 ORF3A protein (PubMed:35239449). This induces endoplasmic reticulum stress and inflammatory responses and facilitates viral infection (PubMed:35239449)., [UniProtKB, PubMed]; Case report of homozygous nonsense mutation p.Q145X causing severe hereditary sensory neuropathy, [RefSeq, PubMed]; Elevated FAM134B expression induces radiation-sensitive in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Endoplasmic reticulum (ER)-anchored autophagy regulator which mediates ER delivery into lysosomes through sequestration into autophagosomes (PubMed:26040720, PubMed:31930741, PubMed:34338405). Promotes membrane remodeling and ER scission via its membrane bending capacity and targets the fragments into autophagosomes via interaction with ATG8 family proteins (PubMed:26040720, PubMed:31930741, PubMed:34338405). Active under basal conditions (PubMed:34338405). Required for collagen quality control in a LIR motif-dependent manner (By similarity). Required for long-term survival of nociceptive and autonomic ganglion neurons (PubMed:19838196, PubMed:26040720)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Excessive ER-phagy mediated by FAM134B contributes to trophoblast cell mitochondrial dysfunction in preeclampsia. Erratum:[Acta Biochim Biophys Sin (Shanghai). 2025 Mar 25;57(3):505. doi: 10.3724/abbs.2025001. PMID: 39789925], [RefSeq, PubMed]; Homozygous FAM134B mutation was found in Turkish siblings with hereditary sensory neuropathy type 2., [RefSeq, PubMed]; Show that loss-of-function mutations in FAM134B, encoding a newly identified cis-Golgi protein, cause hereditary sensory and autonomic neuropathy type II., [RefSeq, PubMed]; The FAM134B and TNFRSF19 showed a dramatically strong synergistic epistasis in explaining the genetic dissection of the susceptibility to complex vascular dementia., [RefSeq, PubMed]; The changes in JK1 DNA copy number associated with progression of colorectal neoplasms.A decrease in JK-1 copy number was correlated with a shorter disease-free survival time., [RefSeq, PubMed]; The overexpression of JK-1(FAM134b) and its transforming capacity in normal cells may play a critical role in the molecular pathogenesis of esophageal squamous cell carcinoma., [RefSeq, PubMed]; The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]; Upregulation of FAM134B inhibits endoplasmic reticulum stress-related degradation protein expression and promotes hepatocellular carcinogenesis., [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": 12, "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": "Q69YN8;Q9H6K6;Q9H764;Q9NXM8", "ec_number_list": "", "go_molecular_function": "GO:0140506 endoplasmic reticulum-autophagosome adaptor activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0005801 cis-Golgi network", "go_biological_process": "GO:0019233 sensory perception of pain;GO:0043524 negative regulation of neuron apoptotic process;GO:0061709 reticulophagy", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9H6L5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NX57-1", "uniprot_id": "RAB20_HUMAN", "mass": 26277.0, "length": 234, "protein_name": "Ras-related protein Rab-20", "gene_name": "RAB20", "organism": "Human", "refseq_name": "ras-related protein Rab-20", "refseq_ac": "NP_060287", "gene_names_uniprotkb": "RAB20", "gene_names_refseq": "RAB20", "protein_names_uniprotkb": "Ras-related protein Rab-20; 3.6.5.2", "protein_names_refseq": "ras-related protein Rab-20", "tax_id": 9606, "disease": "", "pathway": " (hsa:55647); (R-HSA-8873719)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "11141079;11389151;11447212;11675392;16401880;1648736;16613320;17114793;17411337;18532927;18649179;19603039;21255211;22694141;23481700;23874396;24023390;24715725;25341920;25576301;25645385;25892735;26154972;26969162;26992070;27600516;27862975;28228285;28494243;28832583;28834231;28904123;29242379;29314611;29557506;29632711;29769354;29786170;30315122;30429286;30524438;31154438;31530632;31844290;31848261;32138279;32157095;32161166;32512511;32897882;32938616;32983136;33123756;33298915;33717175;33912179;33968037;34087483;34401050;34509645;34932366;35051231;35580925;36215666;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8836150", "class_list": "", "function": "Low oxygen saturation during sleep reduces CD1D and RAB20 expressions that are reversed by CPAP therapy., [RefSeq, PubMed]; Rab20 is specifically and significantly upregulated in the sputum of human patients with active tuberculosis., [RefSeq, PubMed]; Regulates connexin 43 intracellular transport., [RefSeq, PubMed]; Regulation of Small GTPase Rab20 by Ikaros in B-Cell Acute Lymphoblastic Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; TPI1-reduced extracellular vesicles mediated by Rab20 downregulation promotes aerobic glycolysis to drive hepatocarcinogenesis., [RefSeq, PubMed]; TdIF1 associates with the RAB20 promoter, and RAB20 gene transcription is reduced in TdIF1-knocked-down cells, suggesting that TdIF1 stimulates RAB20 gene transcription. 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 (By similarity). RAB20 plays a role in apical endocytosis/recycling. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes., [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": 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": "Q5T9X5;Q9NX49", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;3.6.1.-;2.5.1.60;3.6.5.4;2.7.11.1;3.6.-.-;3.6.1.15;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0012505 endomembrane system;GO:0030670 phagocytic vesicle membrane", "go_biological_process": "GO:0090383 phagosome acidification;GO:0006886 intracellular protein transport;GO:0006897 endocytosis;GO:0090385 phagosome-lysosome fusion", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9NX57-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UDW1-1", "uniprot_id": "QCR9_HUMAN", "mass": 7308.0, "length": 63, "protein_name": "Cytochrome b-c1 complex subunit 9", "gene_name": "UQCR10", "organism": "Human", "refseq_name": "cytochrome b-c1 complex subunit 9 isoform b", "refseq_ac": "NP_001003684", "gene_names_uniprotkb": "UQCR10; HSPC119; UCRC", "gene_names_refseq": "HSPC051; HSPC119; HSPC151; QCR9; UCCR7.2; UCRC; UQCR10", "protein_names_uniprotkb": "Cytochrome b-c1 complex subunit 9; Complex III subunit 9; Complex III subunit X; Cytochrome c1 non-heme 7 kDa protein; Ubiquinol-cytochrome c reductase complex 7.2 kDa protein", "protein_names_refseq": "cytochrome C1, nonheme 7kDa protein; cytochrome b-c1 complex subunit 9 isoform b; cytochrome b-c1 complex subunit 9; cytochrome c1 non-heme 7 kDa protein; ubiquinol-cytochrome c reductase complex (7.2 kD); ubiquinol-cytochrome c reductase complex 7.2 kDa protein; ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:29796); (R-HSA-611105); (R-HSA-9865881)", "pathway_count": 3, "publication_count": 103, "publication_id_list": "10327278;11695836;12231006;12837546;1327877;14741580;15250827;16054089;16230336;17033964;186667;20877624;21278747;22277967;23150584;23168492;23270816;23481700;23564345;23747254;239860;24385928;24715725;24958902;25008109;25564869;25576301;25605331;25645385;26154972;26375851;26992070;27401149;27600516;27846572;27862975;28218747;28228285;28380382;28510447;28673544;28832583;28834231;28844695;28904123;29242379;29243944;29331515;29437277;29493099;29557506;29632046;29632711;29786170;30315122;30429286;30484775;30524438;30779550;30833945;31217245;31611695;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32929120;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34405274;34509645;34561969;34932366;34969438;35051231;35251023;35561310;36010968;36215666;36241641;36284347;37938771;4288886;8592474;9878551", "class_list": "", "function": "Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of 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. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c., [UniProtKB, UniProtKB]; Functionality of complex III of the mitochondrial electron transport chain is required for the hypoxic stabilization of HIF-1 alpha and HIF-2 alpha, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Reciprocal fusion gene involving UQCR10 and C1orf194 is associated with spinal ependymoma., [RefSeq, PubMed]; Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients, [RefSeq, PubMed]; UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).[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": 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": "B5MCM5;Q9T2V6", "ec_number_list": "", "go_molecular_function": "GO:0008121 quinol-cytochrome-c reductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045275 respiratory chain complex III", "go_biological_process": "GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q9UDW1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NKT7-1", "uniprot_id": "RGPD3_HUMAN", "mass": 197487.0, "length": 1758, "protein_name": "RanBP2-like and GRIP domain-containing protein 3", "gene_name": "RGPD3", "organism": "Human", "refseq_name": "ranBP2-like and GRIP domain-containing protein 3", "refseq_ac": "NP_001137485", "gene_names_uniprotkb": "RGPD3; RGP3", "gene_names_refseq": "RGP3; RGPD3", "protein_names_uniprotkb": "RanBP2-like and GRIP domain-containing protein 3", "protein_names_refseq": "ranBP2-like and GRIP domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:653489)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;15710750;25418920;25576301;26154972;26768311;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29508533;29557506;29632046;30315122;30620550;31492838;31844290;32357974;32387766;32488085;33141586;33214551;33912179;34019948;34087483;35051231;35513511;35705054;36215666;39534244;40307207", "class_list": "", "function": "This gene is located in a cluster of Ran-binding protein related genes on chromosome 2 which arose through duplication in primates. The encoded protein contains an N-terminal TPR (tetratricopeptide repeat) domain, two Ran-binding domains, and a C-terminal GRIP domain (golgin-97, RanBP2alpha, Imh1p and p230/golgin-245) domain. [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": 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": 68, "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": "B8ZZM4", "ec_number_list": "", "go_molecular_function": "GO:0019789 SUMO transferase activity", "go_cellular_component": "GO:0005643 nuclear pore", "go_biological_process": "GO:0051168 nuclear export;GO:0006607 NLS-bearing protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "A6NKT7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MT19-1", "uniprot_id": "RHN2P_HUMAN", "mass": 65945.0, "length": 583, "protein_name": "Putative rhophilin-2-like protein RHPN2P1", "gene_name": "RHPN2P1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "RHPN2P1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative rhophilin-2-like protein RHPN2P1; Rhophilin-2 pseudogene 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "25645385;27397612;30429286;31217245;31844290;32488085;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_biological_process": "GO:0051497 negative regulation of stress fiber assembly", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "A8MT19-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IUW5-1", "uniprot_id": "RELL1_HUMAN", "mass": 29340.0, "length": 271, "protein_name": "RELT-like protein 1", "gene_name": "RELL1", "organism": "Human", "refseq_name": "RELT-like protein 1 precursor", "refseq_ac": "NP_001078868", "gene_names_uniprotkb": "RELL1; PSEC0162", "gene_names_refseq": "RELL1", "protein_names_uniprotkb": "RELT-like protein 1", "protein_names_refseq": "RELT-like protein 1 precursor; RELT-like protein 1; receptor expressed in lymphoid tissues like 1; tmp_locus_29", "tax_id": 9606, "disease": "", "pathway": " (hsa:768211)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;16303743;16389068;18669648;19651622;19969290;20068231;22028470;22052202;23481700;25645385;27600516;27846572;28688764;29242379;29493099;29557506;30379171;30429286;30524438;31844290;31848261;32157095;32350084;32683297;32938616;33298915;33968037;34171305;34357683;35051231;35251023;35318648;36010968;37938771;38665916", "class_list": "", "function": "Binds to the TNF receptor family member RELT; homologue of RELT., [RefSeq, PubMed]; Induces activation of MAPK14/p38 cascade, when overexpressed (PubMed:28688764). Induces apoptosis, when overexpressed (PubMed:19969290)., [UniProtKB, PubMed, PubMed]; RELL1, a novel oncogene, accelerates tumor progression and regulates immune infiltrates in glioma., [RefSeq, PubMed]; Report that overexpression of RELT or its homologues RELL1 and RELL2 in HEK 293 epithelial cells results in cell death with morphological characteristics consistent with the activation of an apoptotic pathway., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 2, "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": 8, "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": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q8NBK1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:1900745 positive regulation of p38MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q8IUW5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00212-1", "uniprot_id": "RHOD_HUMAN", "mass": 23466.0, "length": 210, "protein_name": "Rho-related GTP-binding protein RhoD", "gene_name": "RHOD", "organism": "Human", "refseq_name": "rho-related GTP-binding protein RhoD isoform 1", "refseq_ac": "NP_055393", "gene_names_uniprotkb": "RHOD; ARHD", "gene_names_refseq": "ARHD; RHOD; RHOHP1; RHOM; Rho", "protein_names_uniprotkb": "Rho-related GTP-binding protein RhoD; 3.6.5.2; Rho-related protein HP1; RhoHP1", "protein_names_refseq": "Rho-related GTP-binding protein RhoD; Rho-related protein HP1; ras homolog D; ras homolog gene family, member A; ras homolog gene family, member D; rho-related GTP-binding protein RhoD isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:29984); (R-HSA-5663220); (R-HSA-9013405)", "pathway_count": 3, "publication_count": 70, "publication_id_list": "10600384;10678165;10958683;11237011;11784792;12429848;12577064;12732141;12805219;15006353;15085137;15507212;15864301;15866170;15944396;16292343;16439214;16622419;16622420;16943183;17030981;17064668;17129783;17198702;1737036;17916560;18001770;18097444;18669648;18923426;19350017;19815554;20030946;20101212;20591975;21148482;21397845;21576392;21868368;22094460;22275430;22608513;22665057;22790947;23087206;23096567;23222643;23454120;23801653;24102721;24914801;25746724;27481945;27852748;28486133;28947137;29393594;29632046;29776664;31154438;31848261;31871319;32161166;33872315;34114565;35087170;36284347;8945468;9116026;9649308", "class_list": "", "function": "Involved in endosome dynamics. May coordinate membrane transport with the function of the cytoskeleton. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Participates in the reorganization of actin cytoskeleton; the function seems to involve WHAMM and includes regulation of filopodia formation and actin filament bundling. Can modulate the effect of DAPK3 in reorganization of actin cytoskeleton and focal adhesion dissolution., [UniProtKB, PubMed, PubMed, PubMed]; Ras homolog, or Rho, proteins interact with protein kinases and may serve as targets for activated GTPase. They play a critical role in muscle differentiation. The protein encoded by this gene binds GTP and is a member of the small GTPase superfamily. It is involved in endosome dynamics and reorganization of the actin cytoskeleton, and it may coordinate membrane transport with the function of the cytoskeleton. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]., [RefSeq]; Rho GTPase gene expression and breast cancer risk: a Mendelian randomization analysis. Publication Status: Online-Only, [RefSeq, PubMed]; The GTPase deficient atypical Rho GTPases, which have a stalled GTPase activity, RhoD has an elevated intrinsic GDP/GTP exchange activity, rendering the protein constitutively active., [RefSeq, PubMed]; The actin nucleation factors JMY and WHAMM enable a rapid Arp2/3 complex-mediated intrinsic pathway of apoptosis. 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": 1, "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": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;3.6.1.-;3.6.5.4;1.3.1.70;2.7.11.1;1.16.1.-;3.6.-.-;3.6.1.15;3.9.1.-;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019901 protein kinase binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005741 mitochondrial outer membrane;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0051893 regulation of focal adhesion assembly;GO:0030335 positive regulation of cell migration;GO:0032956 regulation of actin cytoskeleton organization;GO:0045785 positive regulation of cell adhesion;GO:0051056 regulation of small GTPase mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "O00212-1", "record_type": "protein" }, { "uniprot_canonical_ac": "F8VTS6-1", "uniprot_id": "RFAL1_HUMAN", "mass": 32249.0, "length": 287, "protein_name": "Ret finger protein-like 4A-like protein 1", "gene_name": "RFPL4AL1", "organism": "Human", "refseq_name": "ret finger protein-like 4A-like protein 1", "refseq_ac": "NP_001264326", "gene_names_uniprotkb": "RFPL4AL1", "gene_names_refseq": "RFPL4AL1; RNF210B", "protein_names_uniprotkb": "Ret finger protein-like 4A-like protein 1", "protein_names_refseq": "ret finger protein-like 4A-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:729974)", "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": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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: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": 0.1, "record_id": "F8VTS6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z4M0-1", "uniprot_id": "RE114_HUMAN", "mass": 29155.0, "length": 266, "protein_name": "Meiotic recombination protein REC114", "gene_name": "REC114", "organism": "Human", "refseq_name": "meiotic recombination protein REC114 isoform 1", "refseq_ac": "NP_001035826", "gene_names_uniprotkb": "REC114; C15orf60", "gene_names_refseq": "C15orf60; CT147; OOMD10; OZEMA10; REC114", "protein_names_uniprotkb": "Meiotic recombination protein REC114", "protein_names_refseq": "meiotic recombination protein REC114 isoform 1; meiotic recombination protein REC114-like", "tax_id": 9606, "disease": "oocyte maturation defect 10 (MONDO:MONDO:0030925)", "pathway": " (hsa:283677)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;18452278;28100913;31704776;35051231;38148155", "class_list": "", "function": "A bi-allelic REC114 loss-of-function variant causes meiotic arrest and nonobstructive azoospermia., [RefSeq, PubMed]; Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest., [RefSeq, PubMed]; In Japanese individuals, combined genotyping for the associated variants thus far identified; that is, HLA-A*02:06, TLR3 rs3775296 T/T and Rec114 rs16957893 CG, may help to predict the risk for cold medicine-related Stevens-Johnson syndrome /TEN with severe ocular complications, [RefSeq, PubMed]; Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination (PubMed:38148155). Activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis (By similarity). Required for both spermatogenesis and oogenesis (PubMed:31704776, PubMed:38148155)., [UniProtKB, UniProtKB, PubMed, PubMed]; The protein encoded by this gene is orthologous to the mouse meiotic recombination protein REC114, which is involved in DNA double-strand break formation during meiosis. The encoded protein is conserved in most eukaryotes and was first discovered and characterized in yeast. [provided by RefSeq, Feb 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": 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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005694 chromosome", "go_biological_process": "GO:0006310 DNA recombination;GO:0007283 spermatogenesis;GO:0048477 oogenesis;GO:0042138 meiotic DNA double-strand break formation", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q7Z4M0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969G6-1", "uniprot_id": "RIFK_HUMAN", "mass": 17623.0, "length": 155, "protein_name": "Riboflavin kinase", "gene_name": "RFK", "organism": "Human", "refseq_name": "riboflavin kinase", "refseq_ac": "NP_060809", "gene_names_uniprotkb": "RFK", "gene_names_refseq": "RFK; RIFK", "protein_names_uniprotkb": "Riboflavin kinase; 2.7.1.26; ATP:riboflavin 5'-phosphotransferase; Flavokinase", "protein_names_refseq": "0610038L10Rik; ATP:riboflavin 5'-phosphotransferase; flavokinase; riboflavin kinase", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:55312); (R-HSA-196843)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "11237011;12623014;14580199;16643857;18632736;19641494;20206331;20463145;20877624;21110228;21308351;22158615;23301498;24264046;24714562;24715725;25645385;26288249;26992070;2775236;27846572;28832583;28834231;29242379;29393594;29493099;29557506;29786170;30779550;31844290;32157095;32897882;32938616;32983136;33717175;33981976;34087483;34171305;35051231;36010968;37938771;8001561", "class_list": "", "function": "Catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin-mononucleotide (FMN), hence rate-limiting enzyme in the synthesis of FAD. Essential for TNF-induced reactive oxygen species (ROS) production. Through its interaction with both TNFRSF1A and CYBA, physically and functionally couples TNFRSF1A to NADPH oxidase. TNF-activation of RFK may enhance the incorporation of FAD in NADPH oxidase, a critical step for the assembly and activation of NADPH oxidase., [UniProtKB, PubMed]; DR4 and DR5 have a capability to activate Nox1 by recruiting RFK, resulting in ROS-mediated apoptotic cell death in tumor cells., [RefSeq, PubMed]; Levels of riboflavin kinase expression correlate well with Gleason score, known as a good indicator of patient prognosis, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Results from a study on gene expression variability markers in early-stage human embryos shows that RFK is a putative expression variability marker for the 3-day, 8-cell embryo stage. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that TNF, through the activation of RFK, enhances the incorporation of FAD in NADPH oxidase enzymes, a critical step for the assembly and activation of NADPH oxidase, [RefSeq, PubMed]; Riboflavin kinase (RFK; EC 2.7.1.26) is an essential enzyme that catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin mononucleotide (FMN), an obligatory step in vitamin B2 utilization and flavin cofactor synthesis (Karthikeyan et al., 2003 [PubMed 12623014]).[supplied by OMIM, Nov 2009]., [RefSeq]; The structure of riboflavin kinase cocrystallized with both MgADP and FMN is reported; drastic conformational changes associated with flavin binding are observed primarily at the so-called Flap I and Flap II loop regions, [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": 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": "Q5JSG9;Q9NUT7", "ec_number_list": "2.7.1.26", "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0008531 riboflavin kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0006915 apoptotic process;GO:0033864 positive regulation of NAD(P)H oxidase activity;GO:0009231 riboflavin biosynthetic process;GO:0009398 FMN biosynthetic process;GO:0006771 riboflavin metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q969G6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00287-1", "uniprot_id": "RFXAP_HUMAN", "mass": 28232.0, "length": 272, "protein_name": "Regulatory factor X-associated protein", "gene_name": "RFXAP", "organism": "Human", "refseq_name": "regulatory factor X-associated protein", "refseq_ac": "NP_000529", "gene_names_uniprotkb": "RFXAP", "gene_names_refseq": "MHC2D4; RFXAP", "protein_names_uniprotkb": "Regulatory factor X-associated protein; RFX DNA-binding complex 36 kDa subunit; RFX-associated protein", "protein_names_refseq": "RFX DNA-binding complex 36 kDa subunit; RFX-associated protein; regulatory factor X-associated protein", "tax_id": 9606, "disease": "MHC class II deficiency 4 (MONDO:MONDO:0971015)", "pathway": " (hsa:5994)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "10072068;18452278;20732328;24714562;24715725;26728094;28832583;29242379;29393594;29557506;30429286;31844290;31848261;32157095;32983136;33093461;33592498;33912179;34932366;35051231;37584719;40307207;9118943", "class_list": "", "function": "Fisetin inhibits proliferation of pancreatic adenocarcinoma by inducing DNA damage via RFXAP/KDM4A-dependent histone H3K36 demethylation. Publication Status: Online-Only, [RefSeq, PubMed]; Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Part of the RFX complex that binds to the X-box of MHC II promoters., [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": 1, "reported_mutagensis": 0, "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": "B2R9T8;Q5VZM6;Q8TC40", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0016607 nuclear speck;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045348 positive regulation of MHC class II biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "O00287-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95199-1", "uniprot_id": "RCBT2_HUMAN", "mass": 60315.0, "length": 551, "protein_name": "RCC1 and BTB domain-containing protein 2", "gene_name": "RCBTB2", "organism": "Human", "refseq_name": "RCC1 and BTB domain-containing protein 2 isoform 2", "refseq_ac": "NP_001259", "gene_names_uniprotkb": "RCBTB2; CHC1L; RLG", "gene_names_refseq": "CHC1L; RCBTB2; RLG", "protein_names_uniprotkb": "RCC1 and BTB domain-containing protein 2; CHC1-L; Chromosome condensation 1-like; RCC1-like G exchanging factor; Regulator of chromosome condensation and BTB domain-containing protein 2", "protein_names_refseq": "RCC1 and BTB domain-containing protein 2 isoform 2; RCC1-like G exchanging factor RLG; regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2", "tax_id": 9606, "disease": "malignant histiocytic disease (Disease Ontology:DOID:2570)", "pathway": " (hsa:1102)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "12115502;23481700;25576301;26992070;27600516;28832583;29242379;29493099;29557506;30524438;31154438;31530632;31844290;31848261;32157095;32161166;32350084;32502341;32897882;32938616;33141586;33592498;33717175;33936100;33968037;34171305;34561969;34932366;35051231;35580925;36241641;36284347;37938771;38679985;9806834", "class_list": "", "function": "Decreased expression in prostate cancer associated with the difference in frequency of variant isoforms between normal and neoplastic prostate tissues places it in a pivotal role or possibly adjacent to a gene with that role in prostate cancer evolution, [RefSeq, PubMed]; Expression of CLLD7 and CHC1L Proteins in Oral Epithelial Dysplasia in a Group of Thai Patients. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein containing two C-terminal BTB/POZ domains that is related to regulator of chromosome condensation (RCC). The encoded protein may act as a guanine nucleotide exchange factor. This gene is observed to be lost or underexpressed in prostate cancers. There is a pseudogene of this gene on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 13, "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": "B2RDW8", "ec_number_list": "", "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0001669 acrosomal vesicle", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "O95199-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C7M4-1", "uniprot_id": "RHF2B_HUMAN", "mass": 31637.0, "length": 288, "protein_name": "Rhox homeobox family member 2B", "gene_name": "RHOXF2B", "organism": "Human", "refseq_name": "rhox homeobox family member 2B", "refseq_ac": "NP_001093155", "gene_names_uniprotkb": "RHOXF2B", "gene_names_refseq": "RHOXF2B", "protein_names_uniprotkb": "Rhox homeobox family member 2B", "protein_names_refseq": "rhox homeobox family member 2B", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability (Disease Ontology:DOID:0050776); non-syndromic X-linked intellectual disability 1 (Disease Ontology:DOID:0112038)", "pathway": " (hsa:727940)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "26992070;28171660;33392160", "class_list": "", "function": "Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis., [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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0000977 RNA polymerase II transcription 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:0010628 positive regulation of gene expression;GO:0048666 neuron development", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "P0C7M4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DJD1-1", "uniprot_id": "RGPD2_HUMAN", "mass": 197308.0, "length": 1756, "protein_name": "RANBP2-like and GRIP domain-containing protein 2", "gene_name": "RGPD2", "organism": "Human", "refseq_name": "RANBP2-like and GRIP domain-containing protein 2 isoform 1", "refseq_ac": "NP_001071638", "gene_names_uniprotkb": "RGPD2; RANBP2L2; RGP2", "gene_names_refseq": "NUP358; RANBP2L2; RGP2; RGPD2; ranBP2-like 2", "protein_names_uniprotkb": "RANBP2-like and GRIP domain-containing protein 2; Ran-binding protein 2-like 2; RanBP2-like 2; RanBP2L2", "protein_names_refseq": "RANBP2-like and GRIP domain-containing protein 2 isoform 1; RANBP2-like and GRIP domain-containing protein 2; Ran binding protein 2-like 2; nucleoporin; ran-binding protein 2-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:729857)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "24714562;26811146;27600516;27920218;28063628;28218747;28228285;28446606;28514659;28649982;28832583;28834231;29242379;29331515;29393594;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30524438;32157095;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": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P0C839;Q68DN6;Q6V1X0", "ec_number_list": "", "go_molecular_function": "GO:0019789 SUMO transferase activity", "go_cellular_component": "GO:0005643 nuclear pore", "go_biological_process": "GO:0051168 nuclear export;GO:0006607 NLS-bearing protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "P0DJD1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P42331-1", "uniprot_id": "RHG25_HUMAN", "mass": 73435.0, "length": 645, "protein_name": "Rho GTPase-activating protein 25", "gene_name": "ARHGAP25", "organism": "Human", "refseq_name": "rho GTPase-activating protein 25 isoform a", "refseq_ac": "NP_001007232", "gene_names_uniprotkb": "ARHGAP25; KIAA0053", "gene_names_refseq": "ARHGAP25; HEL-S-308; KAIA0053", "protein_names_uniprotkb": "Rho GTPase-activating protein 25; Rho-type GTPase-activating protein 25", "protein_names_refseq": "epididymis secretory protein Li 308; epididymis secretory sperm binding protein; rho GTPase-activating protein 25 isoform a; rho GTPase-activating protein 25; rho-type GTPase-activating protein 25", "tax_id": 9606, "disease": "", "pathway": " (hsa:9938); (R-HSA-9013149)", "pathway_count": 2, "publication_count": 248, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10699171;10699464;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;19673492;19690332;19713215;19911011;19934221;20400958;20460433;20679435;20810653;21148482;21542010;21565175;21613211;21730051;21850230;21865595;21989057;22004470;22096251;22298643;22407364;22475431;22608513;22734669;22970203;23186163;23209303;23255595;23288169;23434736;23572525;23707487;23718289;23940355;24086303;24259668;24335996;24352656;24859002;24933155;24960694;25024229;25211221;25418920;25428919;25704760;25721503;25795300;25862245;26129894;26529257;26887924;26992070;27117132;27145964;27216196;27481945;27555588;27566826;27655845;27713499;27806292;27846572;28114311;28196833;28832583;28834231;29089502;29242379;29351928;29358323;29382922;29393594;29508533;29557506;29632711;29786170;30853411;31154438;31228451;31844290;31848261;31871319;32203420;32350084;32502341;32897882;32983136;33994864;34087483;34357683;35051231;35561310;36190314;36207695;37326327;40914422;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 novel BRET-Based GAP assay reveals phosphorylation-dependent regulation of the RAC-specific GTPase activating protein ARHGAP25., [RefSeq, PubMed]; ARHGAP25 Inhibits Pancreatic Adenocarcinoma Growth by Suppressing Glycolysis via AKT/mTOR Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; ARHGAP25 negatively regulates the metastatic potential of CRC cells via the Wnt/beta-catenin pathway, [RefSeq, PubMed]; ARHGAP25 suppresses the development of breast cancer by an ARHGAP25/Wnt/ASCL2 feedback loop., [RefSeq, PubMed]; ARHGAPs, such as ARHGAP25, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM, Mar 2008]., [RefSeq]; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Relationship between the expression of ARHGAP25 and RhoA in non-small cell lung cancer and vasculogenic mimicry. 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": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K2Y1;B7Z498;E9PFQ7;G5E9G2;Q8IXQ2", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0001891 phagocytic cup", "go_biological_process": "GO:0006911 phagocytosis, engulfment;GO:0007015 actin filament organization;GO:0007165 signal transduction;GO:0051058 negative regulation of small GTPase mediated signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 25.2, "record_id": "P42331-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13972-1", "uniprot_id": "RGRF1_HUMAN", "mass": 145234.0, "length": 1273, "protein_name": "Ras-specific guanine nucleotide-releasing factor 1", "gene_name": "RASGRF1", "organism": "Human", "refseq_name": "ras-specific guanine nucleotide-releasing factor 1 isoform 1", "refseq_ac": "NP_002882", "gene_names_uniprotkb": "RASGRF1; CDC25; GNRP; GRF1", "gene_names_refseq": "CDC25L; CDC25; GNRP; GRF1; GRF55; H-GRF55; PP13187; RASGRF1; ras-GRF1", "protein_names_uniprotkb": "Ras-specific guanine nucleotide-releasing factor 1; GNRP; Guanine nucleotide-releasing protein; Ras-GRF1; Ras-specific nucleotide exchange factor CDC25", "protein_names_refseq": "CDC25 like; Ras-specific guanine nucleotide-releasing factor, CDC25 homolog; Ras-specific nucleotide exchange factor CDC25; guanine nucleotide exchange factor; guanine nucleotide-releasing factor, 55 kD; guanine nucleotide-releasing protein; ras-specific guanine nucleotide-releasing factor 1 isoform 1; ras-specific guanine nucleotide-releasing factor 1", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); temporal lobe epilepsy (Disease Ontology:DOID:3328)", "pathway": " (hsa:5923); (R-HSA-442982); (R-HSA-5673001)", "pathway_count": 3, "publication_count": 93, "publication_id_list": "10373510;10508167;10601308;10869344;11027663;11090077;11136978;11313946;11389730;11546808;11702783;12032311;12094235;12121613;12538592;1379731;14506247;14622581;14707138;15356145;1545823;15546878;15853814;16627759;16684964;16921254;17110335;1716764;17998941;18775330;1898771;19279408;19920141;20478380;21102635;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23103841;23303910;23443682;23575685;24897931;24937142;25219551;25548167;25781681;25892735;26085527;27600516;28778966;29044055;29242379;29530990;29557506;29632711;29671580;29793445;30429286;31135801;31844290;31943943;32157095;32387766;33298915;33592498;33691108;33912179;33968037;34171305;34509645;34799483;35051231;35580925;36010968;6148751;7684828;7809086;7828890;7935463;7972015;8052307;8394845;8493579;8665852;8710374;8939933;9604935;9927426", "class_list": "", "function": "Benzothiazole amphiphiles promote RasGRF1-associated dendritic spine formation in human stem cell-derived neurons., [RefSeq, PubMed]; Genetic variants in BICC1 and RASGRF1 are closely associated with high myopia, which appears to be a potential candidate for high myopia in Chinese Han population., [RefSeq, PubMed]; Low RASGRF1 expression due to hypermethylation is associated with Colorectal Cancer., [RefSeq, PubMed]; Our studies have shown that the heritability of myopia makes 66.4% in Lithuania. We detected significant associations between the combinations of GJD2 CC and RASGRF1 GT and odds ratio of developing myopia. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes the exchange of Ras-bound GDP by GTP., [UniProtKB, PubMed]; RASGRF1-rearranged Cutaneous Melanocytic Neoplasms With Spitzoid Cytomorphology: A Clinicopathologic and Genetic Study of 3 Cases., [RefSeq, PubMed]; The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 8851, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "F8VPA5;H0YKF2;J3KQP9;Q16027", "ec_number_list": "", "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity;GO:0035254 glutamate receptor binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030426 growth cone;GO:0043005 neuron projection", "go_biological_process": "GO:0046579 positive regulation of Ras protein signal transduction;GO:0007165 signal transduction;GO:0031175 neuron projection development;GO:0043410 positive regulation of MAPK cascade;GO:0048167 regulation of synaptic plasticity", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q13972-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3KRB8-1", "uniprot_id": "RHGBB_HUMAN", "mass": 30251.0, "length": 267, "protein_name": "Inactive Rho GTPase-activating protein 11B", "gene_name": "ARHGAP11B", "organism": "Human", "refseq_name": "inactive Rho GTPase-activating protein 11B", "refseq_ac": "NP_001034930", "gene_names_uniprotkb": "ARHGAP11B; FAM7B1", "gene_names_refseq": "ARHGAP11B; B'-T; FAM7B1; GAP (1-8)", "protein_names_uniprotkb": "Inactive Rho GTPase-activating protein 11B; Rho-type GTPase-activating protein 11B", "protein_names_refseq": "family with sequence similarity 7, member B1; inactive Rho GTPase-activating protein 11B; rho GTPase-activating protein 11B; rho-type GTPase-activating protein 11B", "tax_id": 9606, "disease": "", "pathway": " (hsa:89839); (R-HSA-8980692); (R-HSA-9013148)", "pathway_count": 3, "publication_count": 280, "publication_id_list": "10037681;10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10724160;10873388;10873802;11007481;11058585;11085924;11149925;11207612;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;12432077;12464619;12531887;12547822;12650940;12773384;12857875;12860998;12877655;12907671;14506234;14512443;15023524;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15342493;15485661;15601624;15611138;15728722;15850391;15866170;15897194;16112081;16116428;16184169;16217026;16467373;16519628;16630611;16714282;16776779;16777452;16777849;16862148;16896804;16914516;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17562871;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18045877;18056264;18158243;18218625;18363964;18426980;18653540;18786931;18829452;18835169;18838382;18929667;19494238;19605563;19635168;19673492;19713215;19934221;20030946;20101212;20400958;20591975;20628200;20660154;20679435;21148482;21351730;21454492;21542010;21565175;21613211;21685891;21699497;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22461490;22571869;22608513;22673745;22911862;22970203;22992742;23200924;23255595;23406282;23434736;23572525;23718289;23870313;24086303;24128008;24259668;24335996;24352656;24584464;24933155;24996924;25024229;25211221;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26371245;26529257;26598554;26887924;27058226;27096001;27145964;27216196;27481945;27555588;27600516;27798618;27920218;27957544;27986909;28028151;28112683;28196833;28218747;28228285;28580430;28584191;28649982;28825699;28832583;28855257;28860633;28904123;29146911;29242379;29331515;29393594;30061681;30315122;30484771;30524438;30853411;31105010;31844290;31871319;31883789;32157095;32203420;32357974;32554627;32897882;32938616;32983136;33298915;33691108;33938018;33968037;34211107;34509645;34932366;35051231;35561310;35580925;36010968;36098218;38046902;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;9659915;9670022;9792683;9822605;9829970;9843499;9846874", "class_list": "", "function": "ARHGAP11B may have contributed to evolutionary expansion of human neocortex., [RefSeq, PubMed]; An ARHGAP11B-induced, mitochondria-based effect on basal progenitor metabolism that is a hallmark of highly mitotically active cells appears to underlie its role in neocortex expansion., [RefSeq, PubMed]; Expression of human-specific ARHGAP11B in mice leads to neocortex expansion and increased memory flexibility., [RefSeq, PubMed]; Hominin-specific protein that promotes development and evolutionary expansion of the brain neocortex (PubMed:25721503, PubMed:27957544, PubMed:30484771, PubMed:32554627, PubMed:33938018). Able to promote amplification of basal progenitors in the subventricular zone, producing more neurons during fetal corticogenesis, thereby playing a key role in neocortex expansion (PubMed:25721503). Promotes the proliferation of basal progenitors by inhibiting the mitochondrial permeability transition pore (mPTP): delays the opening of the mPTP via interaction with ADP:ATP translocase, thereby increasing mitochondrial Ca(2+) concentration and inducing glutamine catabolism, which is required for basal progenitor proliferation (PubMed:31883789). Does not possess GTPase activator activity: the absence of GTPase activator activity is required to promote amplification of basal progenitors during neocortex development (PubMed:25721503, PubMed:27957544)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Human-specific ARHGAP11B ensures human-like basal progenitor levels in hominid cerebral organoids., [RefSeq, PubMed]; Human-specific ARHGAP11B increases size and folding of primate neocortex in the fetal marmoset., [RefSeq, PubMed]; Protooncogenic Role of ARHGAP11A and ARHGAP11B in Invasive Ductal Carcinoma: Two Promising Breast Cancer Biomarkers. Publication Status: Online-Only, [RefSeq, PubMed]; The data also demonstrate that a single C-->G base substitution underlies the ARHGAP11B-mediated basal progenitor amplification implicated in neocortex expansion. 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": "", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0035795 negative regulation of mitochondrial membrane permeability;GO:0007165 signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0021987 cerebral cortex development;GO:0006543 L-glutamine catabolic process", "synthesized_glycan_count": 0, "hit_score": 28.1, "record_id": "Q3KRB8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q52LW3-1", "uniprot_id": "RHG29_HUMAN", "mass": 142064.0, "length": 1261, "protein_name": "Rho GTPase-activating protein 29", "gene_name": "ARHGAP29", "organism": "Human", "refseq_name": "rho GTPase-activating protein 29 isoform a", "refseq_ac": "NP_001315593", "gene_names_uniprotkb": "ARHGAP29; PARG1", "gene_names_refseq": "ARHGAP29; PARG1", "protein_names_uniprotkb": "Rho GTPase-activating protein 29; PTPL1-associated RhoGAP protein 1; Rho-type GTPase-activating protein 29", "protein_names_refseq": "PTPL1-associated RhoGAP 1 (PARG1); PTPL1-associated RhoGAP protein 1; rho GTPase-activating protein 29 isoform a; rho-type GTPase-activating protein 29", "tax_id": 9606, "disease": "EEC syndrome (Disease Ontology:DOID:0060782)", "pathway": " (hsa:9411); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 4, "publication_count": 350, "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;11716068;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;15752761;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;17488656;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18218625;18249095;18347018;18363964;18396277;18426980;18452278;18653540;18669648;18786931;18829452;18835169;18838382;18929667;19269969;19413330;19494238;19605563;19635168;19664994;19673492;19713215;19911011;19934221;20030946;20068231;20101212;20112406;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21351730;21454492;21542010;21565175;21613211;21685891;21699497;21730051;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22673745;22734669;22911862;22970203;22992742;23008150;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24275569;24335996;24352656;24584464;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25576301;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26371245;26529257;26598554;26887924;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27846572;27862975;27986909;28028151;28112683;28114311;28196833;28411811;28510447;28584191;28825699;28860633;29089502;29146911;29358323;29382922;29557506;30061681;30429286;30484775;30524438;30853411;31105010;31844290;31871319;32157095;32203420;32488085;32938616;32983136;33125156;33150183;33291460;33592498;33968037;33981976;34019948;34087483;34171305;34185709;35051231;35318648;35580925;36215666;36241641;37067748;37938771;38944420;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;9438849;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9792683;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "ARHGAP29 Is Involved in Increased Invasiveness of Tamoxifen-resistant Breast Cancer Cells and its Expression Levels Correlate With Clinical Tumor Parameters of Breast Cancer Patients., [RefSeq, PubMed]; ARHGAP29 expression may be a novel prognostic factor of cell proliferation and invasion in prostate cancer., [RefSeq, PubMed]; ARHGAP29 is the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22., [RefSeq, PubMed]; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has strong activity toward RHOA, and weaker activity toward RAC1 and CDC42. May act as a specific effector of RAP2A to regulate Rho. In concert with RASIP1, suppresses RhoA signaling and dampens ROCK and MYH9 activities in endothelial cells and plays an essential role in blood vessel tubulogenesis., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Identification of a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate. Publication Status: Online-Only, [RefSeq, PubMed]; Influence of ARHGAP29 on the Invasion of Mesenchymal-Transformed Breast Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PARG1 expression was substantially reduced & it displayed at least partial promoter methylation in all investigated mantle-cell lines & in 31 primary cases. PARG1 is a strong candidate tumor suppressor gene in MCL., [RefSeq, PubMed]; Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]., [RefSeq]; TBX21 attenuates colorectal cancer progression via an ARHGAP29/RSK/GSK3beta dependent manner., [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": 18, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "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": "O15463;Q59H86;Q5VYZ0;Q6NVX2;Q8TBI6", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding;GO:0030165 PDZ domain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0032991 protein-containing complex", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0051058 negative regulation of small GTPase mediated signal transduction;GO:0007266 Rho protein signal transduction;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 35.3, "record_id": "Q52LW3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6NUM9-1", "uniprot_id": "RETST_HUMAN", "mass": 66820.0, "length": 610, "protein_name": "All-trans-retinol 13,14-reductase", "gene_name": "RETSAT", "organism": "Human", "refseq_name": "all-trans-retinol 13,14-reductase precursor", "refseq_ac": "NP_060220", "gene_names_uniprotkb": "RETSAT; PPSIG; PRO872", "gene_names_refseq": "RETSAT", "protein_names_uniprotkb": "All-trans-retinol 13,14-reductase; 1.3.99.23; All-trans-13,14-dihydroretinol saturase; PPAR-alpha-regulated and starvation-induced gene protein; RetSat", "protein_names_refseq": "PPAR-alpha-regulated and starvation-induced gene protein; all-trans-13,14-dihydroretinol saturase; all-trans-retinol 13,14-reductase precursor; all-trans-retinol 13,14-reductase", "tax_id": 9606, "disease": "", "pathway": " (hsa:54884); (R-HSA-975634)", "pathway_count": 2, "publication_count": 111, "publication_id_list": "10052934;10769148;11060341;11181758;11237011;11274389;1279089;12975309;15358783;1542003;15583000;16200213;16303743;16939223;17525477;17644776;18087047;18295589;18460466;18507396;1856611;19014918;19139408;20112406;21106934;21851338;22424782;22898188;23481700;24106281;24715725;25418920;25576301;25645385;25892735;26154972;26758079;26811146;26992070;27452731;27600516;27846572;27862975;2793848;28228285;28832583;28855500;28904123;29393594;29557506;29632046;29769354;29786170;30315122;30410026;30484775;30524438;30779550;31154438;31222486;31844290;31848261;31937595;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34357683;34405274;34509645;35051231;35251023;35318648;35580925;36010968;36109793;36215666;36241641;36284347;3714052;37938771;38895981;3942763;4345202;5057882;5675424;6420172;6961410;7683668;8017323;8384721;8728311;9888420;9920938;9925661", "class_list": "", "function": "Catalyzes the saturation of all-trans-retinol to all-trans-13,14-dihydroretinol. Does not exhibit any activity toward all-trans-retinoic acid, nor 9-cis, 11-cis or 13-cis-retinol isomers. May play a role in the metabolism of vitamin A. Independently of retinol conversion, may regulate liver metabolism upstream of MLXIPL/ChREBP. May play a role in adipocyte differentiation., [UniProtKB, UniProtKB]; Intestinal retinol saturase is implicated in the development of obesity and epithelial homeostasis upon injury., [RefSeq, PubMed]; RETSAT associates with DDX39B to promote fork restarting and resistance to gemcitabine based chemotherapy in pancreatic ductal adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; RetSat plays an important role in the biology of adipocytes, where it favors normal differentiation, yet is reduced in the obese state. Erratum:[Proc Natl Acad Sci U S A. 2009 Mar 17;106(11):4571. Suh, Moojin [corrected to Suh, Moo-Jin]], [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NIK3;Q53R95;Q53SA9;Q6UX05;Q8N2H5;Q96FA4;Q9NXE5", "ec_number_list": "1.3.99.23", "go_molecular_function": "GO:0051786 all-trans-retinol 13,14-reductase activity", "go_cellular_component": "GO:0016020 membrane;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane;GO:0005640 nuclear outer membrane", "go_biological_process": "GO:0042572 retinol metabolic process", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q6NUM9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZRI8-1", "uniprot_id": "RHG36_HUMAN", "mass": 61664.0, "length": 547, "protein_name": "Rho GTPase-activating protein 36", "gene_name": "ARHGAP36", "organism": "Human", "refseq_name": "rho GTPase-activating protein 36 isoform 2", "refseq_ac": "NP_001269536", "gene_names_uniprotkb": "ARHGAP36", "gene_names_refseq": "ARHGAP36", "protein_names_uniprotkb": "Rho GTPase-activating protein 36", "protein_names_refseq": "rho GTPase-activating protein 36 isoform 2; rho GTPase-activating protein 36", "tax_id": 9606, "disease": "long QT syndrome (Disease Ontology:DOID:2843); Bazex-Dupre-Christol syndrome (MONDO:MONDO:0010535)", "pathway": " (hsa:158763)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;25024229;26911374;27713425;28832583;29351928;33999959;35986704;37938771", "class_list": "", "function": "A new mechanism of Gli transcription factor activation and implicate ARHGAP36 dysregulation in the onset and/or progression of GLI-dependent cancers. GeneRIF: ARHGAP36 isoforms capable of Gli activation are up-regulated in a subset of human medulloblastomas., [RefSeq, PubMed]; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state., [UniProtKB]; PKA inhibition by ARHGAP36 promotes derepression of the Hedgehog signalling pathway, thereby providing a simple rationale for the upregulation of ARHGAP36 in medulloblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Structure-activity mapping of ARHGAP36 reveals regulatory roles for its GAP homology and C-terminal domains. Publication Status: Online-Only, [RefSeq, PubMed]; 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": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 18, "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": "B7Z234;B7Z439;Q5JRL9;Q5JRM0;Q5JRM1;Q96NU6", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0007015 actin filament organization;GO:0007165 signal transduction;GO:1902533 positive regulation of intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q6ZRI8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IUC4-1", "uniprot_id": "RHPN2_HUMAN", "mass": 76993.0, "length": 686, "protein_name": "Rhophilin-2", "gene_name": "RHPN2", "organism": "Human", "refseq_name": "rhophilin-2", "refseq_ac": "NP_149094", "gene_names_uniprotkb": "RHPN2", "gene_names_refseq": "P76RBE; RHOBP; RHPN2", "protein_names_uniprotkb": "Rhophilin-2; 76 kDa RhoB effector protein; GTP-Rho-binding protein 2; p76RBE", "protein_names_refseq": "76 kDa RhoB effector protein; GTP-Rho-binding protein 2; rhophilin-2; rhophilin-like Rho-GTPase binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:85415); (R-HSA-5666185); (R-HSA-8980692); (R-HSA-9013026)", "pathway_count": 4, "publication_count": 210, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10591629;10619026;10699171;10873388;10940294;11058585;11085924;11207612;11237011;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12473120;12531887;12650940;12857875;12877655;14512443;15023524;15064355;15107133;15302923;15342493;15485661;15601624;15611138;15767687;15850391;15866170;15944396;16112081;16116428;16184169;16217026;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16979770;17077126;17198702;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18669648;18802007;18829452;19494238;19605563;19635168;19664994;19673492;19713215;20030946;20101212;20166139;20400958;20437058;20501757;20591975;20628200;20660154;21148482;21351730;21373644;21454492;21565175;21699497;21865595;21936715;22096251;22298643;22305756;22673745;22911862;22992742;23200924;23255595;23434736;23572525;23870313;24086303;24128008;24259668;24335996;24352656;24714562;24933155;25211221;25576301;25645385;25673874;25704760;26371245;26529257;26887924;26992070;27145964;27216196;27481945;27600516;27862975;27986909;28112683;28196833;28228285;28584191;28832583;28834231;28904123;29146911;29242379;29557506;29786170;29789417;30315122;30779550;30833945;31105010;31154438;31844290;31848261;31871319;32157095;32203420;32488085;32938616;33537174;33592498;33717175;33877886;33968037;34087483;34171305;34185709;34382920;34932366;35051231;35580925;36010968;36210710;36241641;36284347;39302247;7479768;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9305890;9418861;9490638;9497316;9535835;9548756;9659915;9670022;9792683;9822605;9829970", "class_list": "", "function": "Binds specifically to GTP-Rho. May function in a Rho pathway to limit stress fiber formation and/or increase the turnover of F-actin structures in the absence of high levels of RhoA activity., [UniProtKB, PubMed]; Long Noncoding RNA RP11-89K21.1 Interacts with miR-146a/b-5p to Promote Proliferation and Gefitinib Resistance Through Regulating RHPN2 and RhoA/ROCK Pathway in Lung Adenocarcinoma., [RefSeq, PubMed]; May play a key role between RhoB and potential downstream elements needed under stimulation of the thyrotropin/cAMP pathway in thyrocytes, [RefSeq, PubMed]; Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study of genetic testing. (HuGE Navigator), [RefSeq, PubMed]; P76RBE silencing inhibits ovarian cancer cell proliferation, migration, and invasion via suppressing the integrin beta1/NF-kappaB pathway., [RefSeq, PubMed]; Rhophilin-2 may function normally in a Rho pathway to limit stress fiber formation and/or increase the turnover of F-actin structures in the absence of high levels of RhoA activity, [RefSeq, PubMed]; This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]., [RefSeq]; [RHPN2 is highly expressed in osteosarcoma cells to promote cell proliferation and migration and inhibit apoptosis]., [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": 3, "reported_glycation": 0, "reported_snv": 11, "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": "B2RCG8;B3KUY8;B4DUS7;Q8N3T7;Q8N9D6;Q8NE33;Q96RU1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0051497 negative regulation of stress fiber assembly", "synthesized_glycan_count": 0, "hit_score": 21.3, "record_id": "Q8IUC4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N431-1", "uniprot_id": "RGF1C_HUMAN", "mass": 52870.0, "length": 466, "protein_name": "Ras-GEF domain-containing family member 1C", "gene_name": "RASGEF1C", "organism": "Human", "refseq_name": "ras-GEF domain-containing family member 1C", "refseq_ac": "NP_778232", "gene_names_uniprotkb": "RASGEF1C", "gene_names_refseq": "RASGEF1C", "protein_names_uniprotkb": "Ras-GEF domain-containing family member 1C", "protein_names_refseq": "ras-GEF domain-containing family member 1C", "tax_id": 9606, "disease": "", "pathway": " (hsa:255426)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "26811146;29557506;34584172;35051231", "class_list": "", "function": "Guanine nucleotide exchange factor (GEF)., [UniProtKB]; Natural selection at the RASGEF1C (GGC) repeat in human and divergent genotypes in late-onset neurocognitive disorder. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "D3DWQ7;Q7Z4T0;Q8NA49", "ec_number_list": "", "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007265 Ras protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8N431-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9C0H5-1", "uniprot_id": "RHG39_HUMAN", "mass": 121286.0, "length": 1083, "protein_name": "Rho GTPase-activating protein 39", "gene_name": "ARHGAP39", "organism": "Human", "refseq_name": "rho GTPase-activating protein 39 isoform 1", "refseq_ac": "NP_001295136", "gene_names_uniprotkb": "ARHGAP39; KIAA1688", "gene_names_refseq": "ARHGAP39; CrGAP; Vilse", "protein_names_uniprotkb": "Rho GTPase-activating protein 39", "protein_names_refseq": "RhoGAP93B homolog; crossGAP homolog; rho GTPase-activating protein 39 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:80728); (R-HSA-428543); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013405); (R-HSA-9013408); (R-HSA-9013423); (R-HSA-9035034)", "pathway_count": 12, "publication_count": 387, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10619026;10652265;10699171;10699464;10724160;10847683;10873388;10873802;10958683;11007481;11058585;11085924;11145705;11149925;11207612;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11784792;11803464;11804587;11804589;11804590;11864571;11884391;11912491;11919634;11948177;11956649;11961559;11967128;12071859;12093360;12096337;12172552;12177196;12195014;12221077;12221096;12351724;12376551;12432077;12464619;12473120;12531887;12546821;12547822;12577064;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15169870;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15542837;15579468;15601624;15611138;15728722;15814684;15850391;15858067;15866170;15897194;15944396;16002401;16081809;16112081;16116428;16184169;16217026;16243035;16243036;16339170;16467373;16473593;16492808;16507994;16519628;1660188;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16968698;17027967;17060455;17064668;17077126;17145773;17158234;17196961;17198702;17214551;17244649;17269730;17562871;17583407;17599059;17698854;17702745;17765681;17804252;17916560;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18191593;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18662984;18669648;18691976;18697831;18786931;18802007;18829452;18835169;18838382;18929667;19269969;19494238;19534724;19581409;19605563;19635168;19673492;19690332;19713215;19934221;20030946;20068231;20101212;20233848;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21119010;21148482;21151158;21351730;21373644;21378159;21454492;21542010;21565175;21576392;21613211;21621533;21685891;21699497;21730051;21757538;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22665057;22673745;22734669;22790947;22911862;22970203;22992742;23087206;23096567;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23757206;23870057;23870313;23940355;24086303;24102721;24128008;24259668;24335996;24352656;24584464;24623723;24659802;24715725;24859002;24933155;24960694;24996924;25024229;25211221;25425145;25428919;25576301;25668492;25673874;25704760;25721503;25746724;25795300;25862245;25963737;26016997;26129894;26299518;26371245;26529257;26598554;26628301;26887924;27096001;27117132;27145964;27216196;27278019;27481945;27555588;27566826;27713499;27798618;27806292;27852748;27986909;28028151;28112683;28114311;28196833;28356423;28486133;28584191;28825699;28860633;28947137;29089502;29146911;29358323;29382922;29557506;29776664;30061681;30853411;31105010;31389670;31871319;32203420;33592498;33968037;33981976;36241641;37059586;37189064;39455833;7476457;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;8945468;8990121;8994827;9013646;9099726;9111050;9113980;9252344;9268338;9305890;9405671;9418861;9438849;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9705280;9792683;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "A homozygous variant in ARHGAP39 is associated with lethal cerebellar vermis hypoplasia in a consanguineous Saudi family. Publication Status: Online-Only, [RefSeq, PubMed]; ARHGAP39 is a prognostic biomarker involved in immune infiltration in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Biological function analysis of ARHGAP39 as an independent prognostic biomarker 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": 10, "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": "B4E1I1", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0007165 signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0099173 postsynapse organization", "synthesized_glycan_count": 0, "hit_score": 38.8, "record_id": "Q9C0H5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZR2-1", "uniprot_id": "REXO4_HUMAN", "mass": 46672.0, "length": 422, "protein_name": "RNA exonuclease 4", "gene_name": "REXO4", "organism": "Human", "refseq_name": "RNA exonuclease 4 isoform 2", "refseq_ac": "NP_001266278", "gene_names_uniprotkb": "REXO4; PMC2; XPMC2H", "gene_names_refseq": "REX4; REXO4; XPMC2H; XPMC2", "protein_names_uniprotkb": "RNA exonuclease 4; 3.1.-.-; Exonuclease XPMC2; Prevents mitotic catastrophe 2 protein homolog; hPMC2", "protein_names_refseq": "REX4 homolog, 3'-5' exonuclease; REX4, RNA exonuclease 4 homolog; RNA exonuclease 4 isoform 2; XPMC2 prevents mitotic catastrophe 2 homolog; Xenopus prevents mitotic catastrophe 2 homolog; exonuclease XPMC2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57109)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "10908561;11230166;11237011;12429849;15104674;15944288;18669648;19651622;19691289;20068231;20112406;21602889;23186163;24715725;25418920;25469497;25576301;25645385;26154972;26811146;26992070;27846572;27862975;27920218;28063628;28832583;28855257;28860189;28904123;29242379;29393594;29493099;29557506;29632046;29786170;30315122;30379171;30484775;31154438;31844290;32157095;32357974;32387766;32502341;32983136;33298915;33936100;33981976;34171305;34357683;35051231;9325058", "class_list": "", "function": "Determined that the catalytic activity of hPMC2 is required for repair of abasic sites that result from estrogen-induced 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": 6, "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": "B2RAT2;Q5T8S4;Q5T8S5;Q5T8S6;Q9GZW3", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003690 double-stranded DNA binding;GO:0004519 endonuclease activity;GO:0008408 3'-5' exonuclease activity;GO:0004527 exonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0006281 DNA repair;GO:0006396 RNA processing;GO:0006355 regulation of DNA-templated transcription;GO:0006364 rRNA processing;GO:0006308 DNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q9GZR2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H4X1-1", "uniprot_id": "RGCC_HUMAN", "mass": 14559.0, "length": 137, "protein_name": "Regulator of cell cycle RGCC", "gene_name": "RGCC", "organism": "Human", "refseq_name": "regulator of cell cycle RGCC", "refseq_ac": "NP_054778", "gene_names_uniprotkb": "RGCC; C13orf15; RGC32", "gene_names_refseq": "C13orf15; RGC-32; RGC32; RGCC; bA157L14.2", "protein_names_uniprotkb": "Regulator of cell cycle RGCC; RGC-32; Response gene to complement 32 protein", "protein_names_refseq": "regulator of cell cycle RGCC; response gene to complement 32 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:28984); (R-HSA-6804115)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "11687586;11814693;11896574;12897130;14968113;15713436;16140933;16160013;17081983;17146433;18337750;18767875;19158077;19276069;19651622;19690332;20352051;20531387;22163048;22252318;23186163;23236473;25880248;26992070;27862975;28832583;28904123;29242379;29393594;29493099;29557506;29786170;30429286;30600542;31154438;31601783;31844290;31848261;32157095;32325539;32357974;32983136;33123756;33691108;33912179;34932366;35051231;35462050;35580925;36172382;36284347;37938771;8944033;9184226;9671765;9712883", "class_list": "", "function": "Modulates the activity of cell cycle-specific kinases. Enhances CDK1 activity. May contribute to the regulation of the cell cycle. May inhibit growth of glioma cells by promoting arrest of mitotic progression at the G2/M transition. Fibrogenic factor contributing to the pathogenesis of renal fibrosis through fibroblast activation., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Oncogenic gene RGC-32 is a direct target of miR-26b and facilitates tongue squamous cell carcinoma aggressiveness through EMT and PI3K/AKT signalling., [RefSeq, PubMed]; RGC-32 overexpression might be part of the deregulation of the cell cycle that is required for the growth of tumor cells, [RefSeq, PubMed]; RGC-32' dual role in smooth muscle cells and atherogenesis., [RefSeq, PubMed]; Response gene to complement 32 expression in macrophages augments paracrine stimulation-mediated colon cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; Role of RGC-32 in multiple sclerosis and neuroinflammation - few answers and many questions. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Study findings suggest that diminished RGC-32 expression and M2 macrophage polarization were associated with the pro-inflammatory microenvironment of psoriasis., [RefSeq, PubMed]; This gene is thought to regulate cell cycle progression. It is induced by p53 in response to DNA damage, or by sublytic levels of complement system proteins that result in activation of the cell cycle. The encoded protein localizes to the cytoplasm during interphase and to centrosomes during mitosis. The protein forms a complex with polo-like kinase 1. The protein also translocates to the nucleus in response to treatment with complement system proteins, and can associate with and increase the kinase activity of cell division cycle 2 protein. In different assays and cell types, overexpression of this protein has been shown to activate or suppress cell cycle progression. [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": 12, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6NZ48;Q9UL69", "ec_number_list": "", "go_molecular_function": "GO:0019209 kinase activator activity;GO:0019901 protein kinase binding;GO:0030295 protein kinase activator activity;GO:0019887 protein kinase regulator activity;GO:0070412 R-SMAD binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0002430 complement receptor mediated signaling pathway;GO:0008285 negative regulation of cell population proliferation;GO:0010628 positive regulation of gene expression;GO:0045931 positive regulation of mitotic cell cycle;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q9H4X1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H6W3-1", "uniprot_id": "RIOX1_HUMAN", "mass": 71086.0, "length": 641, "protein_name": "Ribosomal oxygenase 1", "gene_name": "RIOX1", "organism": "Human", "refseq_name": "ribosomal oxygenase 1", "refseq_ac": "NP_078920", "gene_names_uniprotkb": "RIOX1; C14orf169; MAPJD; NO66", "gene_names_refseq": "C14orf169; JMJD9; MAPJD; NO66; RIOX1; ROX; URLC2; hsNO66", "protein_names_uniprotkb": "Ribosomal oxygenase 1; 1.14.11.27; 1.14.11.79; 60S ribosomal protein L8 histidine hydroxylase; Bifunctional lysine-specific demethylase and histidyl-hydroxylase NO66; Myc-associated protein with JmjC domain; Nucleolar protein 66; ROX; Ribosomal oxygenase NO66; hsNO66", "protein_names_refseq": "60S ribosomal protein L8 histidine hydroxylase; MYC-associated protein with JmjC domain; bifunctional lysine-specific demethylase and histidyl-hydroxylase NO66; histone lysine demethylase NO66; lysine-specific demethylase NO66; nucleolar protein 66; ribosomal oxygenase 1; ribosomal oxygenase NO66; up-regulated in lung cancer 2", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:79697); (R-HSA-9629569)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "1378441;14742713;15676025;17308053;17947579;1856229;18669648;19574390;19690332;19819225;19927124;20068231;20684070;21060799;22750859;22851697;23103944;23160351;23186163;23303181;23481700;24100311;24366607;24486019;24550447;24550462;24550463;24715725;25576301;25645385;25728928;25880248;27846572;27862975;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29493099;29557506;29563586;29632711;29914368;29915238;31154438;31704826;31844290;31848261;32157095;32350084;32387766;32502341;32764136;32938616;32983136;33085743;33141586;33298915;33691108;33717175;33745927;33912179;33936100;33968037;34171305;34509645;34561969;35051231;35210392;35251023;36010968;6688526", "class_list": "", "function": "High NO66 expression is associated with Glioma., [RefSeq, PubMed]; Interactions between NO66 and Osx regulate Osx-target genes in osteoblasts by modulating histone methylation states, [RefSeq, PubMed]; Mechanisms Regulating Muscle Protein Synthesis in CKD. Erratum:[J Am Soc Nephrol. 2021 Feb;32(2):521. doi: 10.1681/ASN.2020111609. PMID: 33514643], [RefSeq, PubMed]; NO66 crystallized in space group P3(1) or P3(2), with unit-cell parameters a = 89.35, b = 89.35, c = 304.86 A, alpha = beta = 90, gamma = 120 degrees , and the crystal is likely to contain four molecules in the asymmetric unit, [RefSeq, PubMed]; NO66 has functions in ribosome biogenesis and in the replication or remodeling of certain heterochromatic regions, [RefSeq, PubMed]; NO66 overexpression rescues ethanol-induced cell apoptosis in human AC16 cardiomyocytes by suppressing PTEN and activating the PI3K/Akt signaling., [RefSeq, PubMed]; Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase (PubMed:23103944). Specifically demethylates 'Lys-4' (H3K4me) and 'Lys-36' (H3K36me) of histone H3, thereby playing a central role in histone code (By similarity). Preferentially demethylates trimethylated H3 'Lys-4' (H3K4me3) and monomethylated H3 'Lys-4' (H3K4me1) residues, while it has weaker activity for dimethylated H3 'Lys-36' (H3K36me2) (By similarity). Acts as a regulator of osteoblast differentiation via its interaction with SP7/OSX by demethylating H3K4me and H3K36me, thereby inhibiting SP7/OSX-mediated promoter activation (By similarity). Also catalyzes demethylation of non-histone proteins, such as CGAS: demethylation of monomethylated CGAS promotes interaction between CGAS and PARP1, followed by PARP1 inactivation (By similarity). Also catalyzes the hydroxylation of 60S ribosomal protein L8 on 'His-216', thereby playing a role in ribosome biogenesis (PubMed:23103944). Participates in MYC-induced transcriptional activation (PubMed:17308053)., [UniProtKB, PubMed, UniProtKB, PubMed]; The JmjC-domain protein NO66/RIOX-1 affects the balance between proliferation and maturation 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B4DT02", "ec_number_list": "1.14.11.-;1.14.11.79;1.14.11.27;1.14.11.51", "go_molecular_function": "GO:0051864 histone H3K36 demethylase activity;GO:0034647 histone H3K4me/H3K4me2/H3K4me3 demethylase activity;GO:0032453 histone H3K4 demethylase activity;GO:0005506 iron ion binding;GO:0016706 2-oxoglutarate-dependent dioxygenase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0045668 negative regulation of osteoblast differentiation;GO:0006282 regulation of DNA repair;GO:0018126 protein hydroxylation", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9H6W3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HD89-1", "uniprot_id": "RETN_HUMAN", "mass": 11419.0, "length": 108, "protein_name": "Resistin", "gene_name": "RETN", "organism": "Human", "refseq_name": "resistin isoform a precursor", "refseq_ac": "NP_001180303", "gene_names_uniprotkb": "RETN; FIZZ3; HXCP1; PRO1199; RSTN", "gene_names_refseq": "ADSF; FIZZ3; RENT; RETN1; RETN; RSTN; XCP1", "protein_names_uniprotkb": "Resistin; ADSF; Adipose tissue-specific secretory factor; C/EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein; Cysteine-rich secreted protein A12-alpha-like 2; Cysteine-rich secreted protein FIZZ3", "protein_names_refseq": "C/EBP-epsilon regulated myeloid-specific secreted cysteine-rich protein precursor 1; adipose tissue-specific secretory factor; c/EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein; cysteine-rich secreted protein A12-alpha-like 2; cysteine-rich secreted protein FIZZ3; found in inflammatory zone 3; resistin delta2; resistin isoform a precursor", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); colitis (Disease Ontology:DOID:0060180); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); COVID-19 (Disease Ontology:DOID:0080600); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); heart disease (Disease Ontology:DOID:114); pyelonephritis (Disease Ontology:DOID:11400); gestational diabetes (Disease Ontology:DOID:11714); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); uremia (Disease Ontology:DOID:4676); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); end stage renal disease (Disease Ontology:DOID:783); diabetic retinopathy (Disease Ontology:DOID:8947); systemic lupus erythematosus (Disease Ontology:DOID:9074); type 2 diabetes mellitus (Disease Ontology:DOID:9352); diabetic neuropathy (Disease Ontology:DOID:9743); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:56729); (R-HSA-6798695); (R-HSA-9615017)", "pathway_count": 3, "publication_count": 31, "publication_id_list": "10102273;10217147;10358014;10480625;10913147;10921885;11090083;11201732;11779849;12239572;12975309;15064728;15248836;16783365;16840535;21536589;23650620;24028821;24040102;27547294;29557506;31101494;31848261;33298915;35580925;37646261;37897936;38219167;38421160;38946181;8692836", "class_list": "", "function": "Hormone that seems to suppress insulin ability to stimulate glucose uptake into adipose cells (By similarity). Potentially links obesity to diabetes (By similarity). Promotes chemotaxis in myeloid cells (PubMed:15064728)., [UniProtKB, UniProtKB, PubMed]; Interaction effect between low birthweight and resistin gene rs1862513 variant on insulin resistance and type 2 diabetes mellitus in adulthood: Toon Genome Study., [RefSeq, PubMed]; RETN displays antimicrobial activity against Gram negative and Gram positive bacteria., [RefSeq, PubMed]; Resistin Gene Promoter -420C>G (rs1862513) and +299 G>A (rs3745367) Polymorphisms in Psoriasis., [RefSeq, PubMed]; Resistin stimulates PC-3 prostate cancer cell growth through stimulation of SOCS3 and SOCS5 genes., [RefSeq, PubMed]; Serum resistin and lipid profile in primigravida females with and without preeclampsia: An analytical cross-sectional study., [RefSeq, PubMed]; Study on the correlation between gene polymorphisms of adiponectin and resistin levels and abdominal aortic aneurysm. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the family defined by the mouse resistin-like genes. The characteristic feature of this family is the C-terminal stretch of 10 cys residues with identical spacing. The mouse homolog of this protein is secreted by adipocytes, and may be the hormone potentially linking obesity to type II diabetes. The encoded protein also has an antimicrobial role in skin, displaying antibacterial activity against both Gram positive and Gram negative bacteria. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 20, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D6W649;Q540D9;Q76B53", "ec_number_list": "", "go_molecular_function": "GO:0005179 hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0035578 azurophil granule lumen;GO:0035580 specific granule lumen", "go_biological_process": "GO:2000252 negative regulation of feeding behavior;GO:0009612 response to mechanical stimulus;GO:0032868 response to insulin;GO:0045444 fat cell differentiation;GO:2000872 positive regulation of progesterone secretion", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9HD89-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UJD0-1", "uniprot_id": "RIMS3_HUMAN", "mass": 32796.0, "length": 308, "protein_name": "Regulating synaptic membrane exocytosis protein 3", "gene_name": "RIMS3", "organism": "Human", "refseq_name": "regulating synaptic membrane exocytosis protein 3", "refseq_ac": "NP_055562", "gene_names_uniprotkb": "RIMS3; KIAA0237", "gene_names_refseq": "NIM3; RIM 3; RIM3; RIMS3", "protein_names_uniprotkb": "Regulating synaptic membrane exocytosis protein 3; Nim3; RIM 3; RIM3 gamma; Rab-3-interacting molecule 3", "protein_names_refseq": "RIM3 gamma; Rab-3 interacting molecule 3; rab-3-interacting molecule 3; regulating synaptic membrane exocytosis protein 3", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:9783)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "12620390;17081983;17525332;18490030;19413330;19546099;20068231;24722188;28118666;29242379;31844290;32157095;32350084;32502341", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Regulates synaptic membrane exocytosis., [UniProtKB]; We identified four novel CNVs in three different genes (one duplication in USH2A gene, two duplications in CEP290 gene, and one duplication in RIMS2 gene) in total four families, at a detection rate of 8% (4/50)., [RefSeq, PubMed]; Western blot analysis shows increased piccolo protein expression in the amygdala in schizophrenia., [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": 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": "D3DPV8;Q92511;X5D7U7", "ec_number_list": "", "go_molecular_function": "GO:0098882 structural constituent of presynaptic active zone;GO:0044325 transmembrane transporter binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0098831 presynaptic active zone cytoplasmic component;GO:0048786 presynaptic active zone;GO:0042734 presynaptic membrane", "go_biological_process": "GO:0042391 regulation of membrane potential;GO:0017156 calcium-ion regulated exocytosis;GO:0016082 synaptic vesicle priming;GO:0016081 synaptic vesicle docking;GO:2000300 regulation of synaptic vesicle exocytosis", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9UJD0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NX20-1", "uniprot_id": "RM16_HUMAN", "mass": 28449.0, "length": 251, "protein_name": "Large ribosomal subunit protein uL16m", "gene_name": "MRPL16", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL16m", "refseq_ac": "NP_060310", "gene_names_uniprotkb": "MRPL16; PNAS-111", "gene_names_refseq": "L16mt; MRP-L16; MRPL16; PNAS-111; uL16m", "protein_names_uniprotkb": "Large ribosomal subunit protein uL16m; 39S ribosomal protein L16, mitochondrial; L16mt; MRP-L16", "protein_names_refseq": "39S ribosomal protein L16, mitochondrial; large ribosomal subunit protein uL16m; mitochondrial large ribosomal subunit protein uL16m", "tax_id": 9606, "disease": "", "pathway": " (hsa:54948); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 60, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11279069;11551941;15358359;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21907147;22172991;2250005;23481700;24715725;25233460;25278503;25576301;25838379;26288249;27029019;28228285;28510447;28649982;28892042;29557506;29632711;30315122;30429286;30524438;31222486;31844290;31848261;32157095;32161166;32357974;32387766;32897882;32938616;33141586;33243891;33298915;33592498;33717175;33878294;33912179;33968037;34087483;34171305;34405274;34509645;35051231;35177605;36010968;36302763;36596788;37141370;37938771", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Results from a study on gene expression variability markers in early-stage human embryos shows that MRPL16 is a putative variability and gene expression level marker for the 3-day, 8-cell embryo stage. 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": 0, "reported_glycation": 0, "reported_snv": 4, "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": "Q9BYD0;Q9HB70", "ec_number_list": "", "go_molecular_function": "GO:0019843 rRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0015934 large ribosomal subunit", "go_biological_process": "GO:0032543 mitochondrial translation;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q9NX20-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRX2-1", "uniprot_id": "RM17_HUMAN", "mass": 20050.0, "length": 175, "protein_name": "Large ribosomal subunit protein bL17m", "gene_name": "MRPL17", "organism": "Human", "refseq_name": "large ribosomal subunit protein bL17m", "refseq_ac": "NP_071344", "gene_names_uniprotkb": "MRPL17; LIP2", "gene_names_refseq": "L17mt; LIP2; MRP-L17; MRP-L26; MRPL17; RPL17L; RPML26; bL17m", "protein_names_uniprotkb": "Large ribosomal subunit protein bL17m; 39S ribosomal protein L17, mitochondrial; L17mt; LYST-interacting protein 2; MRP-L17", "protein_names_refseq": "39S ribosomal protein L17, mitochondrial; LYST-interacting protein 2; LYST-interacting protein LIP2; large ribosomal subunit protein bL17m; mitochondrial large ribosomal subunit protein bL17m", "tax_id": 9606, "disease": "", "pathway": " (hsa:63875); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 60, "publication_id_list": "10931946;11237011;11543634;11984006;15358359;17803939;18429816;18782833;19524667;19716793;20186120;21907147;22172991;2250005;24714562;24715725;25233460;25278503;25838379;26992070;27029019;27600516;27862975;27920218;28510447;28832583;28834231;28892042;28904123;29242379;29393594;29493099;29508533;29557506;29786170;30429286;30484775;30779550;30833945;31154438;31217245;31222486;31844290;31848261;32157095;32502341;32938616;33141586;33243891;33717175;33878294;34171305;34357683;35051231;35177605;36284347;36302763;36596788;37141370;37938771", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [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": 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": "D3DQU3;Q6IAH8;Q96Q53;Q9C066", "ec_number_list": "", "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005840 ribosome;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0032543 mitochondrial translation;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q9NRX2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H777-1", "uniprot_id": "RNZ1_HUMAN", "mass": 40019.0, "length": 363, "protein_name": "Zinc phosphodiesterase ELAC protein 1", "gene_name": "ELAC1", "organism": "Human", "refseq_name": "zinc phosphodiesterase ELAC protein 1", "refseq_ac": "NP_061166", "gene_names_uniprotkb": "ELAC1; D29", "gene_names_refseq": "D29; ELAC1", "protein_names_uniprotkb": "Zinc phosphodiesterase ELAC protein 1; 3.1.26.11; Deleted in Ma29; ElaC homolog protein 1; RNase Z 1; Ribonuclease Z 1; tRNA 3 endonuclease 1; tRNase Z 1", "protein_names_refseq": "RNase Z 1; RNaseZ(S); deleted in Ma29; elaC homolog 1; elaC homolog protein 1; ribonuclease Z 1; tRNA 3 endonuclease 1; tRNA 3' processing endoribonuclease; tRNA Z (short form); tRNase Z 1; tRNase ZS; zinc phosphodiesterase ELAC protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55520)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11175785;11237011;11401430;12711671;18573253;21593607;26154972;28832583;28904123;30315122;31844290;32075755;32157095;32502341;32897882;32938616;32983136;33298915;33981976;34171305;34808499;34864548;35051231;35580925;36241641", "class_list": "", "function": "ELAC1 Repairs tRNAs Cleaved during Ribosome-Associated Quality Control., [RefSeq, PubMed]; Genes for tRNA recycling are upregulated in response to infection with Theiler's mouse encephalitis virus., [RefSeq, PubMed]; Human tRNase ZS gene expression appears to be post-transcriptionally regulated., [RefSeq, PubMed]; Transcription from the proximal promoter of ELAC1, a gene for tRNA repair, is upregulated by interferons., [RefSeq, PubMed]; Zinc phosphodiesterase, which displays some tRNA 3'-processing endonuclease activity (PubMed:12711671, PubMed:32075755). Specifically involved in tRNA repair: acts downstream of the ribosome-associated quality control (RQC) pathway by removing a 2',3'-cyclic phosphate from tRNAs following cleavage by ANKZF1 (PubMed:32075755). tRNAs are then processed by TRNT1 (PubMed:32075755)., [UniProtKB, PubMed, PubMed]; Zinc phosphodiesterase, which displays some tRNA 3'-processing endonuclease activity. Specifically involved in tRNA repair: acts downstream of the ribosome-associated quality control (RQC) pathway by removing a 2',3'-cyclic phosphate from tRNAs following cleavage by ANKZF1. tRNAs are then processed by TRNT1., [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": 1, "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": "Q9NS99", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0042781 3'-tRNA processing endoribonuclease activity;GO:0004549 tRNA-specific ribonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0042780 tRNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9H777-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZN7-1", "uniprot_id": "ROGDI_HUMAN", "mass": 32254.0, "length": 287, "protein_name": "Protein rogdi homolog", "gene_name": "ROGDI", "organism": "Human", "refseq_name": "protein rogdi homolog", "refseq_ac": "NP_078865", "gene_names_uniprotkb": "ROGDI", "gene_names_refseq": "KTZS; RAV2; ROGD1; ROGDI", "protein_names_uniprotkb": "Protein rogdi homolog", "protein_names_refseq": "leucine zipper domain protein; protein rogdi homolog; rogdi homolog", "tax_id": 9606, "disease": "Kohlschutter-Tonz syndrome (Disease Ontology:DOID:0111668)", "pathway": " (hsa:79641)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11230166;11237011;22424600;22482807;23086778;25565929;26992070;27862975;28638151;28832583;28834231;28904123;29153277;29242379;29557506;29786170;30379171;30524438;30833945;31154438;31844290;31848261;32157095;32357974;32387766;32938616;32983136;33141586;33392160;33592498;34171305;34509645;34932366;35051231;35318648;35580925;36010968;36241641;37646740", "class_list": "", "function": "Homozygosity mapping localized the gene linked to Kohlschutter-Tonz syndrome to a 586,513 bp region (with a LOD score of 6.4) in chromosomal region 16p13.3. The nonsense mutation was homozygous in all affected individuals., [RefSeq, PubMed]; Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation., [RefSeq, PubMed]; The finding that ROGDI mutations cause Kohlschutter-Tonz Syndrome indicates that the protein product of this gene plays an important role in neuronal development as well as amelogenesis., [RefSeq, PubMed]; We identify novel compound heterozygous ROGDI mutations in five typical Kohlschutter-Tonz syndrome families. Other families were negative for ROGDI mutations, suggesting genetic heterogeneity of atypical forms of the 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": 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": 8, "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": "Q6IA00", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0043291 RAVE complex;GO:0005635 nuclear envelope;GO:0030424 axon;GO:0030425 dendrite;GO:0043204 perikaryon", "go_biological_process": "GO:0007420 brain development;GO:0042475 odontogenesis of dentin-containing tooth;GO:0022008 neurogenesis;GO:0007035 vacuolar acidification", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9GZN7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95059-1", "uniprot_id": "RPP14_HUMAN", "mass": 13693.0, "length": 124, "protein_name": "Ribonuclease P protein subunit p14", "gene_name": "RPP14", "organism": "Human", "refseq_name": "ribonuclease P protein subunit p14", "refseq_ac": "NP_001092253", "gene_names_uniprotkb": "RPP14", "gene_names_refseq": "P14; RPP14", "protein_names_uniprotkb": "Ribonuclease P protein subunit p14", "protein_names_refseq": "ribonuclease P protein subunit p14; ribonuclease P/MRP 14kDa subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:11102); (R-HSA-6784531); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 94, "publication_id_list": "10024167;10444065;11455963;11727826;11871657;11922599;12068309;12138183;12150911;12526808;12711671;12729736;15109492;15317868;16037817;16043514;16361254;16710424;16723659;16738141;17189298;17204286;17224653;17353269;17412707;17898086;18065403;18226598;18438418;18809514;18984158;19106111;19332556;19564402;19801658;20038530;20056613;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21311021;21450806;21559454;21593607;22072790;22190735;22195017;22916032;22944664;23439679;23482395;2388630;24424021;24550520;2470644;24870230;25525153;25576301;25640237;25849199;25969445;26237581;26375851;26992070;28510447;28514659;28832583;28834231;28904123;30315122;30429286;30454648;31844290;31848261;32157095;32897882;33592498;33717175;33912179;33968037;34171305;35051231;35580925;36010968;6930639;7759547;7828588;9482744;9512417;9660920", "class_list": "", "function": "Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends., [UniProtKB, PubMed, PubMed]; This gene encodes a subunit of ribonuclease P and has 3' to 5' exoribonuclease activity. Transcripts for this gene are bicistronic and include a conserved downstream open reading frame for the hydroxyacyl-thioester dehydratase type 2 (HTD2) gene. [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": 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": "Q53X97", "ec_number_list": "", "go_molecular_function": "GO:0033204 ribonuclease P RNA binding", "go_cellular_component": "GO:0030681 multimeric ribonuclease P complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0006396 RNA processing;GO:0001682 tRNA 5'-leader removal", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "O95059-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P10153-1", "uniprot_id": "RNAS2_HUMAN", "mass": 18354.0, "length": 161, "protein_name": "Non-secretory ribonuclease", "gene_name": "RNASE2", "organism": "Human", "refseq_name": "non-secretory ribonuclease precursor", "refseq_ac": "NP_002925", "gene_names_uniprotkb": "RNASE2; EDN; RNS2", "gene_names_refseq": "EDN; RAF3; RNASE2; RNS2", "protein_names_uniprotkb": "Non-secretory ribonuclease; 4.6.1.18; Eosinophil-derived neurotoxin; RNase 2; RNase UpI-2; Ribonuclease 2; Ribonuclease US", "protein_names_refseq": "RNase 2; RNase UpI-2; eosinophil-derived neurotoxin; non-secretory ribonuclease precursor; non-secretory ribonuclease; ribonuclease 2; ribonuclease A F3; ribonuclease US; ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)", "tax_id": 9606, "disease": "", "pathway": " (hsa:6036); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "37639587;11102386;11154698;12578357;12855582;15755456;1587793;16401072;18694936;23650620;2387583;24715725;2591744;26811146;26992070;2734298;2745977;27726376;28411811;29557506;29786170;29789417;3166997;3182786;32387766;32983136;33091337;33392160;33968037;34509645;3458170;35265065;37074911;37105176;37174726;37795650;38374551;3926759;7547911;7947762;8358150;8471426;8692836;8759319;8810905;9334252;9450956;9826755", "class_list": "", "function": "Addressing diagnostic dilemmas in eosinophilic esophagitis using esophageal epithelial eosinophil-derived neurotoxin. Review article, [RefSeq, PubMed]; Eosinophil-derived neurotoxin levels in early childhood and association with preschool asthma - A prospective observational study. Erratum:[Clin Exp Allergy. 2024 Mar 8;:. PMID: 38456230], [RefSeq, PubMed]; RNASE2 Mediates Age-Associated B Cell Expansion Through Monocyte Derived IL-10 in Patients With Systemic Lupus Erythematosus. Publication Status: Online-Only, [RefSeq, PubMed]; RNase2 is a possible trigger of acute-on-chronic inflammation leading to mRNA vaccine-associated cardiac complication., [RefSeq, PubMed]; The Role of Eosinophil-Derived Neurotoxin and Vascular Endothelial Growth Factor in the Pathogenesis of Eosinophilic Asthma. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The antimicrobial protein, RNase 2 exhibits antiviral against respiratory syncytial virus., [RefSeq, PubMed]; The protein encoded by this gene is a non-secretory ribonuclease that belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein antimicrobial activity against viruses. [provided by RefSeq, Oct 2014]., [RefSeq]; This is a non-secretory ribonuclease. It is a pyrimidine specific nuclease with a slight preference for U. Cytotoxin and helminthotoxin. Selectively chemotactic for dendritic cells. Possesses a wide variety of biological activities., [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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 1, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 2, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 2, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 1, "total_c_glycosites": 2, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 5, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q52M39;Q9H2B7;Q9UCG7", "ec_number_list": "4.6.1.19;3.2.1.24;1.6.2.2;3.2.1.51;3.5.3.1;1.11.2.2;3.2.1.-;3.2.1.22;3.4.21.4;3.2.1.52;3.2.1.31;3.4.21.37;3.4.21.20;4.6.1.18;3.4.16.5;3.4.16.-;2.4.1.1;3.1.27.-;3.1.6.8;3.1.6.14;3.1.6.12;3.2.1.23;1.1.1.205;3.5.1.26;3.4.21.76;2.7.11.24;1.11.1.27;3.1.1.4;2.3.1.23;3.1.6.4;2.7.10.2;3.6.1.-;2.3.3.8;3.4.14.1;3.6.4.6;3.2.1.17;2.7.11.13;6.3.4.21;1.8.4.-;5.3.4.1;3.4.19.9;1.6.5.5;3.1.3.16;5.3.99.3;3.5.4.4;3.4.14.2;3.5.3.15", "go_molecular_function": "GO:0016787 hydrolase activity;GO:0003676 nucleic acid binding;GO:0004540 RNA nuclease activity;GO:0004522 ribonuclease A activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0035578 azurophil granule lumen", "go_biological_process": "GO:0006935 chemotaxis;GO:0051607 defense response to virus;GO:0002227 innate immune response in mucosa;GO:0006401 RNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "P10153-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P34096-1", "uniprot_id": "RNAS4_HUMAN", "mass": 16840.0, "length": 147, "protein_name": "Ribonuclease 4", "gene_name": "RNASE4", "organism": "Human", "refseq_name": "ribonuclease 4 precursor", "refseq_ac": "NP_001269121", "gene_names_uniprotkb": "RNASE4; RNS4", "gene_names_refseq": "RAB1; RNASE4; RNS4", "protein_names_uniprotkb": "Ribonuclease 4; 3.1.27.-; RNase 4", "protein_names_refseq": "RNase 4; epididymis secretory sperm binding protein; ribonuclease 4 precursor; ribonuclease A B1; ribonuclease, RNase A family, 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:6038)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "29242379;29328442;29557506;30418175;30544007;31154438;31844290;32350084;33818125;3467790;35752711;36284347;38987259;40930100;7501448;7742370;8223579;9878400", "class_list": "", "function": "Cleaves preferentially after uridine bases (PubMed:3467790). Has antimicrobial activity against uropathogenic E.coli (UPEC) (PubMed:33818125). Probably contributes to urinary tract sterility (PubMed:33818125)., [UniProtKB, PubMed, PubMed]; Expression and function of human ribonuclease 4 in the kidney and urinary tract., [RefSeq, PubMed]; RNASE4, STAT3, and miRNA-124 may have a regulatory association with the pathological mechanisms in Huntington's disease., [RefSeq, PubMed]; Ribonuclease 4 functions as an intestinal antimicrobial protein to maintain gut microbiota and metabolite homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; Ribonuclease 4 is associated with aggressiveness and progression of prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the pancreatic ribonuclease family. It plays an important role in mRNA cleavage and has marked specificity towards the 3' side of uridine nucleotides. Alternative splicing results in four transcript variants encoding the same protein. This gene and the gene that encodes angiogenin share promoters and 5' exons. Each gene splices to a unique downstream exon that contains its complete coding region. [provided by RefSeq, Aug 2013]., [RefSeq]; This is the first study to demonstrate that although rare and not yet clinically correlated, certain rare RNASE4 variants could cause ALS due to their loss-of-function characteristics and highlights the need to discover novel RNASE variants for a comprehensive understanding of structure-function-disease relationships and design effective therapeutics, [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": "", "ec_number_list": "", "go_molecular_function": "GO:0016787 hydrolase activity;GO:0003676 nucleic acid binding;GO:0004540 RNA nuclease activity;GO:0004522 ribonuclease A activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0019731 antibacterial humoral response;GO:0050830 defense response to Gram-positive bacterium", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "P34096-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P52815-1", "uniprot_id": "RM12_HUMAN", "mass": 21348.0, "length": 198, "protein_name": "Large ribosomal subunit protein bL12m", "gene_name": "MRPL12", "organism": "Human", "refseq_name": "large ribosomal subunit protein bL12m", "refseq_ac": "NP_002940", "gene_names_uniprotkb": "MRPL12; MRPL7; RPML12", "gene_names_refseq": "5c5-2; L12mt; MRP-L31/34; MRPL12; MRPL7/L12; MRPL7; RPML12; bL12m", "protein_names_uniprotkb": "Large ribosomal subunit protein bL12m; 39S ribosomal protein L12, mitochondrial; 5c5-2; L12mt; MRP-L12", "protein_names_refseq": "39S ribosomal protein L12, mitochondrial; MRP-L12; large ribosomal subunit protein bL12m; mitochondrial large ribosomal subunit protein bL12m", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 45 (Disease Ontology:DOID:0112113)", "pathway": " (hsa:6182); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9837999); (R-HSA-9937383)", "pathway_count": 6, "publication_count": 88, "publication_id_list": "11923310;12198491;14623864;15358359;15522782;15870080;16115876;17101804;17297443;17579211;17803939;18429816;18782833;19103604;19524667;19716793;19841671;20186120;21907147;22003127;22172991;22262461;2250005;22710082;23201127;23603806;23931759;24315374;24520911;25233460;25278503;25576301;26504172;26586915;26923599;27029019;27184847;27496948;27642048;28228285;28377575;28396416;28892042;28904123;29242379;29301859;29557506;29932645;30120231;30315122;30779550;31327635;31695197;31844290;31848261;32157095;32357974;32488085;32502341;32897882;32938616;32983136;33141586;33243891;33257573;33691108;33878294;33936100;33968037;33981976;34357683;34704252;34943861;35051231;35580925;35870450;36241641;36302763;36596788;36629048;37141370;37526061;38104924;38129673;38146092;38977138;7623837;8626705", "class_list": "", "function": "As a component of the mitochondrial large ribosomal subunit, plays a role in mitochondrial translation (PubMed:23603806). When present in mitochondria as a free protein not associated with the ribosome, associates with mitochondrial RNA polymerase POLRMT to activate transcription (PubMed:22003127). Required for POLRMT stability (PubMed:26586915)., [UniProtKB, PubMed, PubMed, PubMed]; Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which forms homodimers. In prokaryotic ribosomes, two L7/L12 dimers and one L10 protein form the L8 protein complex. [provided by RefSeq, Jul 2008]., [RefSeq]; Mitochondrial ribosomal protein L12 potentiates hepatocellular carcinoma by regulating mitochondrial biogenesis and metabolic reprogramming., [RefSeq, PubMed]; Role of mitochondrial ribosomal protein L7/L12 (MRPL12) in diabetic ischemic heart disease., [RefSeq, PubMed]; The m6A Reader YTHDC2 Suppresses Lung Adenocarcinoma Tumorigenesis by Destabilizing MRPL12., [RefSeq, PubMed]; The role of lysine acetylation in the function of mitochondrial ribosomal protein L12., [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": 13, "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": "Q969U0;Q9HCA2;Q9UQJ3", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0045893 positive regulation of DNA-templated transcription;GO:0006412 translation;GO:0032543 mitochondrial translation;GO:0006390 mitochondrial transcription", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "P52815-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60602-1", "uniprot_id": "ROMO1_HUMAN", "mass": 8183.0, "length": 79, "protein_name": "Reactive oxygen species modulator 1", "gene_name": "ROMO1", "organism": "Human", "refseq_name": "reactive oxygen species modulator 1", "refseq_ac": "NP_542786", "gene_names_uniprotkb": "ROMO1; C20orf52", "gene_names_refseq": "C20orf52; MTGMP; MTGM; ROMO1; bA353C18.2", "protein_names_uniprotkb": "Reactive oxygen species modulator 1; Epididymis tissue protein Li 175; Glyrichin; MTGM; Mitochondrial targeting GxxxG motif protein; Protein MGR2 homolog; ROS modulator 1", "protein_names_refseq": "PCM19; ROS modulator 1; epididymis tissue protein Li 175; glyrichin; mitochondrial targeting GXXXG protein; mitochondrial targeting GxxxG motif protein; protein MGR2 homolog; reactive oxygen species modulator 1", "tax_id": 9606, "disease": "ureteral obstruction (Disease Ontology:DOID:5199)", "pathway": " (hsa:140823)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "16842742;17537404;18313394;18836179;19535734;20736409;22083756;24366607;26154972;27846572;27920218;28218747;28510447;28832583;29393594;29557506;29632046;29786170;30315122;31530632;31844290;32157095;32265295;33302957;33592498;33968037;34171305;34996995;36284347;36963289;37285738;37938771", "class_list": "", "function": "A 19 amino acid peptide (pCM19) at positions 42-60 of hGlyrichin is crucial for its antibacterial activity., [RefSeq, PubMed]; Cellular adaptive response to Romo1-induced ROS is a mechanism of drug resistance to 5-FU, [RefSeq, PubMed]; Has antibacterial activity against a variety of bacteria including S.aureus, P.aeruginosa and M.tuberculosis. Acts by inducing bacterial membrane breakage., [UniProtKB]; Induces production of reactive oxygen species (ROS) which are necessary for cell proliferation. May play a role in inducing oxidative DNA damage and replicative senescence. May play a role in the coordination of mitochondrial morphology and cell proliferation., [UniProtKB]; Network models of prostate cancer immune microenvironments identify ROMO1 as heterogeneity and prognostic marker. Publication Status: Online-Only, [RefSeq, PubMed]; Targeting PKLR/MYCN/ROMO1 signaling suppresses neuroendocrine differentiation of castration-resistant prostate cancer., [RefSeq, PubMed]; The C allele of the reactive oxygen species modulator 1 (ROMO1) polymorphism rs6060566 is a biomarker predicting coronary artery stenosis in Slovenian subjects with type 2 diabetes mellitus. Publication Status: Online-Only, [RefSeq, PubMed]; The effects of ROMO1 on cervical cancer progression., [RefSeq, PubMed]; The protein encoded by this gene is a mitochondrial membrane protein that is responsible for increasing the level of reactive oxygen species (ROS) in cells. The protein also has antimicrobial activity against a variety of bacteria by inducing bacterial membrane breakage. [provided by RefSeq, Nov 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A7M872;E1P5R9;E9KL28;Q3MHD5;Q5QP16;Q9CQ98;Q9H1N2", "ec_number_list": "", "go_molecular_function": "GO:0008324 monoatomic cation transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005744 TIM23 mitochondrial import inner membrane translocase complex", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0045039 protein insertion into mitochondrial inner membrane;GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "P60602-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13151-1", "uniprot_id": "ROA0_HUMAN", "mass": 30841.0, "length": 305, "protein_name": "Heterogeneous nuclear ribonucleoprotein A0", "gene_name": "HNRNPA0", "organism": "Human", "refseq_name": "heterogeneous nuclear ribonucleoprotein A0", "refseq_ac": "NP_006796", "gene_names_uniprotkb": "HNRNPA0; HNRPA0", "gene_names_refseq": "HNRNPA0; HNRPA0", "protein_names_uniprotkb": "Heterogeneous nuclear ribonucleoprotein A0; hnRNP A0", "protein_names_refseq": "heterogeneous nuclear ribonucleoprotein A0; hnRNA binding protein; hnRNP A0", "tax_id": 9606, "disease": "gastric adenocarcinoma (Disease Ontology:DOID:3717)", "pathway": " (hsa:10949); (R-HSA-9918481)", "pathway_count": 2, "publication_count": 132, "publication_id_list": "11237011;11747608;12456657;14519844;14762106;15084397;15592455;17287340;18083107;18452278;20068231;20305658;20932473;21209280;21406692;21740066;21872626;21911577;22121020;22223895;22706990;23783831;24129315;24275569;24714562;24715725;25218447;25576301;25810538;25880248;26092250;26154972;26992070;27108190;27452731;27543614;27600516;27846572;27862975;28228285;28510447;28649982;28657654;28832583;28834231;28904123;29242379;29351928;29393594;29493099;29508533;29557506;29632711;29769354;29786170;29789417;29902443;30059200;30192525;30315122;30429286;30524438;30599162;30779550;30833945;31154438;31217245;31222486;31492838;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32303675;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33177556;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34211107;34229054;34405274;34509645;34725712;34821009;34846842;34932366;35051231;35215846;35251023;35254053;35318648;35580925;36010968;36215666;36241641;36284347;36581221;37217939;37938771;38665916;38865811;38899932;39534244;39990658;40307207;40596516;7585247", "class_list": "", "function": "HnRNPA0 promotes MYB expression by interacting with enhancer lncRNA MY34UE-AS in human leukemia cells., [RefSeq, PubMed]; LncRNA miR205HG hinders HNRNPA0 translation: anti-oncogenic effects in esophageal carcinoma., [RefSeq, PubMed]; The interferon-regulated host factor hnRNPA0 modulates HIV-1 production by interference with LTR activity, mRNA trafficking, and programmed ribosomal frameshifting., [RefSeq, PubMed]; This gene belongs to the A/B 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 two repeats of quasi-RRM domains that bind RNAs, followed by a glycine-rich C-terminus. [provided by RefSeq, Jul 2008]., [RefSeq]; mRNA-binding component of ribonucleosomes. Specifically binds AU-rich element (ARE)-containing mRNAs. Involved in post-transcriptional regulation of cytokines mRNAs., [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": 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": 5, "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": "Q6IB18", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0019901 protein kinase binding;GO:0035925 mRNA 3'-UTR AU-rich region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0045202 synapse;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0006954 inflammatory response;GO:0032496 response to lipopolysaccharide;GO:0070935 3'-UTR-mediated mRNA stabilization", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q13151-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16518-1", "uniprot_id": "RPE65_HUMAN", "mass": 60948.0, "length": 533, "protein_name": "Retinoid isomerohydrolase", "gene_name": "RPE65", "organism": "Human", "refseq_name": "retinoid isomerohydrolase isoform 1", "refseq_ac": "NP_000320", "gene_names_uniprotkb": "RPE65", "gene_names_refseq": "BCO3; LCA2; RP20; RPE65; mRPE65; p63; rd12; sRPE65", "protein_names_uniprotkb": "Retinoid isomerohydrolase; 3.1.1.64; 5.3.3.22; All-trans-retinyl-palmitate hydrolase; Lutein isomerase; Meso-zeaxanthin isomerase; Retinal pigment epithelium-specific 65 kDa protein; Retinol isomerase", "protein_names_refseq": "BCO family, member 3; RBP-binding membrane protein; RPE65, retinoid isomerohydrolase; all-trans-retinyl-palmitate hydrolase; lutein isomerase; meso-zeaxanthin isomerase; retinal pigment epithelium specific protein 65; retinal pigment epithelium-specific 65 kDa protein; retinal pigment epithelium-specific protein 65kDa; retinitis pigmentosa 20 (autosomal recessive); retinoid isomerohydrolase isoform 1; retinol isomerase", "tax_id": 9606, "disease": "Leber congenital amaurosis 2 (Disease Ontology:DOID:0110016); retinitis pigmentosa 20 (Disease Ontology:DOID:0110353); retinitis pigmentosa 87 (Disease Ontology:DOID:0112144); retinitis pigmentosa (Disease Ontology:DOID:10584); squamous cell carcinoma (Disease Ontology:DOID:1749); basal cell carcinoma (Disease Ontology:DOID:2513)", "pathway": " (hsa:6121); (R-HSA-2453902)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10075733;10090910;10617778;10753906;10766140;11095629;11123914;11237011;11274389;11462243;12036956;12177057;12407145;12960219;14611946;14962443;15024725;15314061;15471866;15557452;15865448;16116091;16198348;16205573;17255476;17297704;17724218;17848510;17964524;18682808;19049981;1925597;19309693;19431183;20192770;21493626;21602930;21654732;21774515;22334370;22509104;22665496;2303470;23878505;25112876;2542268;25892735;27307694;27535533;28228285;28418496;28874556;29557506;29659842;30628748;3170584;31844290;35051231;37547722;38323530;38508214;5315589;6288450;6342691;6512705;6589631;6679757;7633413;7929238;8105993;8884265;9326927;9326941;9490294;9501220;9541407;9703434;9801879;9920938", "class_list": "", "function": "Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans-retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore (PubMed:16116091). Essential for the production of 11-cis retinal for both rod and cone photoreceptors (PubMed:17848510). Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid (PubMed:28874556). The soluble form binds vitamin A (all-trans-retinol), making it available for LRAT processing to all-trans-retinyl ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH (isomerohydrolase) processing to all-cis-retinol. The soluble form is regenerated by transferring its palmitoyl groups onto 11-cis-retinol, a reaction catalyzed by LRAT (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants. Publication Status: Online-Only, [RefSeq, PubMed]; RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India., [RefSeq, PubMed]; RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec. Review article Erratum:[Klin Monbl Augenheilkd. 2024 Mar;241(3):e1. doi: 10.1055/a-2419-3037. PMID: 39353611], [RefSeq, PubMed]; The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital. [provided by RefSeq, Oct 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": 3, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 3, "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": "A8K1L0;Q5T9U3", "ec_number_list": "3.1.1.64;5.3.3.22", "go_molecular_function": "GO:0046872 metal ion binding;GO:0031210 phosphatidylcholine binding;GO:0001786 phosphatidylserine binding;GO:0003834 beta-carotene 15,15'-dioxygenase activity;GO:0016853 isomerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0044297 cell body", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0003407 neural retina development;GO:0007601 visual perception;GO:0001895 retina homeostasis;GO:0006776 vitamin A metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q16518-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3B726-1", "uniprot_id": "RPA43_HUMAN", "mass": 37432.0, "length": 338, "protein_name": "DNA-directed RNA polymerase I subunit RPA43", "gene_name": "POLR1F", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase I subunit RPA43", "refseq_ac": "NP_001002926", "gene_names_uniprotkb": "POLR1F; TWISTNB", "gene_names_refseq": "A43; POLR1F; RPA43; TWISTNB", "protein_names_uniprotkb": "DNA-directed RNA polymerase I subunit RPA43; DNA-directed RNA polymerase I subunit F; Twist neighbor protein", "protein_names_refseq": "DNA-directed RNA polymerase I subunit F; DNA-directed RNA polymerase I subunit RPA43; twist neighbor protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:221830); (R-HSA-427413); (R-HSA-5250924); (R-HSA-73762); (R-HSA-73772); (R-HSA-73863)", "pathway_count": 6, "publication_count": 96, "publication_id_list": "10082553;10471499;10913176;11250901;12393749;12438708;12646563;14610093;14969726;1547496;15558034;16514417;16603771;17081983;17318177;17355984;18212344;18220336;18452278;18669648;18767875;19651622;19838300;20068231;21406692;21559432;22805593;23186163;23301498;23555303;23667505;24397554;24715725;24901984;24952918;25505266;25576301;25880248;25892735;25916849;26154972;26992070;27418187;27418309;27862975;27920218;2805069;28228285;28510447;28514659;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29769354;30315122;30429286;30484775;30779550;30833945;31092671;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;33298915;33592498;33691108;33912179;33968037;33981976;34171305;34211107;34509645;34671025;34887565;35051231;35580925;36241641;36271492;7491500;7597036;7801123;9582279", "class_list": "", "function": "Component of RNA polymerase I (Pol I), a DNA-dependent RNA polymerase which synthesizes ribosomal RNA precursors using the four ribonucleoside triphosphates as substrates. Through its association with RRN3/TIF-IA may be involved in recruitment of Pol I to rDNA promoters., [UniProtKB, PubMed, PubMed, PubMed]; Describe the localisation and characterisation of the TWIST NEIGHBOR (TWISTNB) 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": 8, "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": "A0PJ45;B7Z724", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0001650 fibrillar center;GO:0005736 RNA polymerase I complex", "go_biological_process": "GO:0006362 transcription elongation by RNA polymerase I;GO:0006361 transcription initiation at RNA polymerase I promoter;GO:0006363 termination of RNA polymerase I transcription;GO:0042790 nucleolar large rRNA transcription by RNA polymerase I", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q3B726-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5GAN3-1", "uniprot_id": "RNS13_HUMAN", "mass": 17845.0, "length": 156, "protein_name": "Probable inactive ribonuclease-like protein 13", "gene_name": "RNASE13", "organism": "Human", "refseq_name": "probable inactive ribonuclease-like protein 13 precursor", "refseq_ac": "NP_001012264", "gene_names_uniprotkb": "RNASE13", "gene_names_refseq": "HEL-S-86p; RAL1; RNASE13", "protein_names_uniprotkb": "Probable inactive ribonuclease-like protein 13", "protein_names_refseq": "epididymis secretory sperm binding protein Li 86p; probable inactive ribonuclease-like protein 13 precursor; probable inactive ribonuclease-like protein 13; ribonuclease 13; ribonuclease A L1; ribonuclease, RNase A family, 13 (non-active); ribonuclease-like protein 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:440163)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "15676279;28339009", "class_list": "", "function": "Does not exhibit any ribonuclease activity., [UniProtKB]; Rs1465567 of EGFLAM and rs113710653 of SPATC1L may be susceptibility loci for true aortic aneurysm and rs143881017 of RNASE13 may be such a locus for dissecting aortic aneurysm in Japanese individuals., [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": "", "ec_number_list": "", "go_molecular_function": "GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0050830 defense response to Gram-positive bacterium", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q5GAN3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5GAN4-1", "uniprot_id": "RNS12_HUMAN", "mass": 17177.0, "length": 147, "protein_name": "Probable inactive ribonuclease-like protein 12", "gene_name": "RNASE12", "organism": "Human", "refseq_name": "probable inactive ribonuclease-like protein 12 precursor", "refseq_ac": "NP_001019993", "gene_names_uniprotkb": "RNASE12", "gene_names_refseq": "HEL-S-85p; RAI1; RNASE12", "protein_names_uniprotkb": "Probable inactive ribonuclease-like protein 12", "protein_names_refseq": "epididymis secretory sperm binding protein Li 85p; probable inactive ribonuclease-like protein 12 precursor; probable inactive ribonuclease-like protein 12; ribonuclease A I1; ribonuclease, RNase A family, 12 (non-active); ribonuclease-like protein 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:493901)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "15676279", "class_list": "", "function": "Does not exhibit any ribonuclease activity., [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": "", "ec_number_list": "", "go_molecular_function": "GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0050830 defense response to Gram-positive bacterium", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q5GAN4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5W0B1-1", "uniprot_id": "OBI1_HUMAN", "mass": 81116.0, "length": 726, "protein_name": "ORC ubiquitin ligase 1", "gene_name": "OBI1", "organism": "Human", "refseq_name": "ORC ubiquitin ligase 1", "refseq_ac": "NP_078822", "gene_names_uniprotkb": "OBI1; C13orf7; RNF219", "gene_names_refseq": "C13orf7; OBI1; RNF219", "protein_names_uniprotkb": "ORC ubiquitin ligase 1; 2.3.2.27; OBI1; RING finger protein 219", "protein_names_refseq": "ORC ubiquitin ligase 1; ring finger protein 219", "tax_id": 9606, "disease": "", "pathway": " (hsa:79596); (R-HSA-69273)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10.1101/2023.09.13.557529;10393926;10395539;10600115;10652300;10827953;11063929;11230166;11238451;11313932;11897663;11907280;12411508;12754270;1384126;15024056;15456846;15572030;16582612;16964243;1717476;17525332;17533373;18077418;1828290;18285455;1836978;18384749;18394995;18669648;18991276;19007248;19160488;19192479;19413330;19651622;19664995;20068231;20360007;21813648;21900495;23186163;23242214;23481700;24714562;24715725;25418920;25576301;26375851;26728094;26992070;27920218;28218747;28832583;28834231;28904123;29154753;29242379;29393594;29508533;29632046;29632711;29786170;30315122;30379171;31154438;31160578;31217245;31844290;32157095;32161166;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33402344;33644999;33717175;33771996;33912179;33936100;33968037;33981976;34087483;34357683;34509645;34887419;34932366;35051231;35561310;35580925;36010968;36512252;7737117;7743995;7799941;8119945;8428596;8440392;9268380;9670027;9679058", "class_list": "", "function": "A potential association of RNF219-AS1 with ADHD: Evidence from categorical analysis of clinical phenotypes and from quantitative exploration of executive function and white matter microstructure endophenotypes., [RefSeq, PubMed]; E3 ubiquitin ligase essential for DNA replication origin activation during S phase (PubMed:31160578). Acts as a replication origin selector which selects the origins to be fired and catalyzes the multi-mono-ubiquitination of a subset of chromatin-bound ORC3 and ORC5 during S-phase (PubMed:31160578)., [UniProtKB, PubMed]; RNF219 Promotes Nasopharyngeal Carcinoma Progression by Activating the NF-kappaB Pathway., [RefSeq, PubMed]; RNF219 attenuates global mRNA decay through inhibition of CCR4-NOT complex-mediated deadenylation. Publication Status: Online-Only, [RefSeq, PubMed]; RNF219 silencing result in defective replication origin firing, as shown by reduced CDC45/MCM2-7/GINS complex formation, without affecting pre-replicative complex establishment. RNF219 catalyses the multi-mono-ubiquitylation of a subset of chromatin-bound ORC3 and ORC5 during S-phase. 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": 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": 16, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 29, "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": "B2RN99;Q8TBY2;Q9H0T2;Q9H8M0", "ec_number_list": "2.7.11.22;2.7.11.23;2.3.2.27", "go_molecular_function": "GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006275 regulation of DNA replication;GO:0051865 protein autoubiquitination;GO:0006513 protein monoubiquitination", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q5W0B1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6P1L8-1", "uniprot_id": "RM14_HUMAN", "mass": 15948.0, "length": 145, "protein_name": "Large ribosomal subunit protein uL14m", "gene_name": "MRPL14", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL14m isoform a precursor", "refseq_ac": "NP_001305696", "gene_names_uniprotkb": "MRPL14; MRPL32; RPML32", "gene_names_refseq": "L14mt; L32mt; MRP-L14; MRP-L32; MRPL14; RMPL32; RPML32; uL14m", "protein_names_uniprotkb": "Large ribosomal subunit protein uL14m; 39S ribosomal protein L14, mitochondrial; 39S ribosomal protein L32, mitochondrial; L14mt; L32mt; MRP-L14; MRP-L32", "protein_names_refseq": "39S ribosomal protein L14, mitochondrial; 39S ribosomal protein L32, mitochondrial; large ribosomal subunit protein uL14m isoform a precursor; large ribosomal subunit protein uL14m; mitochondrial large ribosomal subunit protein uL14m", "tax_id": 9606, "disease": "", "pathway": " (hsa:64928); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 49, "publication_id_list": "11543634;15358359;17803939;18429816;18782833;19524667;19716793;20186120;21907147;22172991;2250005;22829778;23171548;23481700;24715725;25233460;25278503;25576301;25838379;25880248;26154972;26811146;27029019;27846572;28510447;28892042;29557506;30429286;31844290;32938616;32983136;33141586;33243891;33298915;33878294;33912179;33936100;33968037;34357683;34932366;35177605;35494241;35580925;36302763;36596788;37141370;37938771;38665916;39894887", "class_list": "", "function": "C7orf30 promotes incorporation of MRPL14 into the mitochondrial large ribosomal subunit., [RefSeq, PubMed]; Forms part of 2 intersubunit bridges in the assembled ribosome. Upon binding to MALSU1 intersubunit bridge formation is blocked, preventing ribosome formation and repressing translation (Probable)., [UniProtKB, PubMed]; This nuclear gene encodes a protein component of the 39S subunit of the mitochondrial ribosome. A pseudogene of this gene is found on chromosome 17. [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": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R575;Q96Q72", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q6P1L8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZMZ0-1", "uniprot_id": "RN19B_HUMAN", "mass": 77925.0, "length": 732, "protein_name": "E3 ubiquitin-protein ligase RNF19B", "gene_name": "RNF19B", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF19B isoform b", "refseq_ac": "NP_001120833", "gene_names_uniprotkb": "RNF19B; IBRDC3; NKLAM", "gene_names_refseq": "IBRDC3; NKLAM; RNF19B", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF19B; 2.3.2.31; IBR domain-containing protein 3; Natural killer lytic-associated molecule; RING finger protein 19B", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF19B isoform b; E3 ubiquitin-protein ligase RNF19B; IBR domain-containing protein 3; natural killer lytic-associated molecule", "tax_id": 9606, "disease": "", "pathway": " (hsa:127544); (R-HSA-983168); (R-HSA-9958825)", "pathway_count": 3, "publication_count": 96, "publication_id_list": "10438909;10912506;11062501;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16709802;16849449;16954532;18555777;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;2183031;22036506;22117219;2261476;2405250;24715725;25502872;25576301;25802875;26375851;26992070;27485036;27570112;27600516;27920218;28228285;28317937;28467828;28832583;28904123;29242379;29314611;29493099;29541393;29632046;29786170;30192525;30315122;30429286;30484775;30626607;30833945;31092671;31154438;31217245;31844290;31998317;32157095;32350084;32387766;32502341;32938616;32983136;33043033;33298915;33592498;33717175;33912179;33968037;33981976;34078123;34087483;34171305;34211107;34215617;34357683;34405274;34433824;34932366;35051231;35251023;35580925;36010968;36241641;36284347;7510216;7512451;8140422;8234276;8626374;8662591;8662795;9380723;9668046", "class_list": "", "function": "E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as UCKL1 (PubMed:16709802, PubMed:27485036). Involved in the cytolytic activity of natural killer cells and cytotoxic T-cells (PubMed:10438909). Protects against staurosporin-induced cell death (PubMed:27485036)., [UniProtKB, PubMed, PubMed, PubMed]; NKLAM is a positive regulator of STAT1-mediated transcriptional activity and is an important component of the innate immune response., [RefSeq, PubMed]; This gene encodes a multi-pass membrane protein containing two RING-type and one IBR-type zinc finger motifs. The encoded protin is an E3 ubiquitin-protein ligase that plays a role in the cytotoxic effects of natural killer (NK) cells. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes X and Y in a possible pseudoautosomal region. [provided by RefSeq, Jul 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": 1, "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": "B7ZLB2;E9PAW6;G3XA82;Q0VG77;Q5TH44;Q5TH45;Q6P6A4;Q8N2S8;Q8WUF3", "ec_number_list": "2.3.2.24;2.3.2.23;2.3.2.26;2.3.2.27;2.3.2.31;2.3.2.-;6.2.1.-;3.6.4.-;3.6.5.2;2.3.2.34;2.3.2.32;2.3.2.25;2.3.2.36;2.7.11.1", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0031624 ubiquitin conjugating enzyme binding;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0002250 adaptive immune response;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0051865 protein autoubiquitination", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q6ZMZ0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZRF8-1", "uniprot_id": "RN207_HUMAN", "mass": 70861.0, "length": 634, "protein_name": "RING finger protein 207", "gene_name": "RNF207", "organism": "Human", "refseq_name": "RING finger protein 207", "refseq_ac": "NP_997279", "gene_names_uniprotkb": "RNF207; C1orf188", "gene_names_refseq": "C1orf188; RNF207", "protein_names_uniprotkb": "RING finger protein 207", "protein_names_refseq": "RING finger protein 207", "tax_id": 9606, "disease": "", "pathway": " (hsa:388591)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "19305408;19305409;25281747;25599194;27862975;30542207;34634443;35051231;37217939", "class_list": "", "function": "Data indicate that plasma E3 Ligase Rnf207 (ring finger protein 207) level in acute myocardial infarction patients increased significantly compared with that in healthy people., [RefSeq, PubMed]; Disruption of protein quality control of the human ether-a-go-go related gene K(+) channel results in profound long QT syndrome., [RefSeq, PubMed]; Genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Nonsense mutation of RNF207 gene is associated with Long QT syndrome., [RefSeq, PubMed]; Plays a role in cardiac repolarization possibly by stabilizing membrane expression of the potassium channel KCNH2/HERG, or by assisting its synthesis, folding or export from the endoplasmic reticulum, in a heat shock protein-dependent manner., [UniProtKB, PubMed]; RNF207 is an important regulator of action potential duration, likely via effects on HERG trafficking and localization in a heat shock protein-dependent manner., [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": 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": "A2VCM8;B4DFR6;Q5TGS6;Q6ZS63;Q96MP2", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0051087 protein-folding chaperone binding;GO:0044325 transmembrane transporter binding;GO:0030544 Hsp70 protein binding", "go_cellular_component": "GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0055117 regulation of cardiac muscle contraction;GO:1901207 regulation of heart looping;GO:1905026 positive regulation of membrane repolarization during ventricular cardiac muscle cell action potential;GO:1905033 positive regulation of membrane repolarization during cardiac muscle cell action potential", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6ZRF8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N7X1-1", "uniprot_id": "RMXL3_HUMAN", "mass": 114938.0, "length": 1067, "protein_name": "RNA-binding motif protein, X-linked-like-3", "gene_name": "RBMXL3", "organism": "Human", "refseq_name": "RNA-binding motif protein, X-linked-like-3", "refseq_ac": "NP_001138818", "gene_names_uniprotkb": "RBMXL3; CXorf55", "gene_names_refseq": "CXorf55; RBMXL3", "protein_names_uniprotkb": "RNA-binding motif protein, X-linked-like-3", "protein_names_refseq": "RNA binding motif protein, X-linked like 3; RNA-binding motif protein, X-linked-like-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:139804)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "29557506;33719563;35051231", "class_list": "", "function": "A primate-specific RNA-binding protein (RBMXL3) is involved in glucocorticoid regulation of human pulmonary surfactant protein B (SP-B) mRNA stability., [RefSeq, PubMed]; RNA-binding protein involved in glucocorticoid regulation of pulmonary surfactant protein B (SFTPB) mRNA stability., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 55, "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": "B4DXC0", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0017069 snRNA binding", "go_cellular_component": "GO:1990904 ribonucleoprotein complex;GO:0043226 organelle", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8N7X1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TCC3-1", "uniprot_id": "RM30_HUMAN", "mass": 18546.0, "length": 161, "protein_name": "Large ribosomal subunit protein uL30m", "gene_name": "MRPL30", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL30m precursor", "refseq_ac": "NP_660213", "gene_names_uniprotkb": "MRPL30; HSPC249; MRPL28; RPML28", "gene_names_refseq": "L28MT; L30MT; MRP-L28; MRP-L30; MRPL28M; MRPL30; RPML28; uL30m", "protein_names_uniprotkb": "Large ribosomal subunit protein uL30m; 39S ribosomal protein L28, mitochondrial; 39S ribosomal protein L30, mitochondrial; L28mt; L30mt; MRP-L28; MRP-L30", "protein_names_refseq": "39S ribosomal protein L28, mitochondrial; large ribosomal subunit protein uL30m precursor; mitochondrial large ribosomal subunit protein uL30m", "tax_id": 9606, "disease": "", "pathway": " (hsa:51263); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 35, "publication_id_list": "11237011;11543634;15358359;17803939;18429816;18782833;19413330;19524667;19716793;20186120;20877624;21907147;22172991;2250005;25233460;25278503;25838379;26992070;27029019;28218747;28510447;28832583;28892042;31844290;32357974;33243891;33298915;33691108;33878294;33936100;34357683;35177605;36302763;36596788;37141370", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p and 12p. Read-through transcription also exists between this gene and the neighboring upstream lipoyltransferase 1 (LIPT1) gene. [provided by RefSeq, Mar 2011]., [RefSeq]; Observational 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": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NIC6;D3DVI0;D3DVI3;Q0D2Q7;Q6ZTP4;Q96Q69;Q9P0N0", "ec_number_list": "", "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0015934 large ribosomal subunit", "go_biological_process": "GO:0032543 mitochondrial translation;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q8TCC3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WZ75-1", "uniprot_id": "ROBO4_HUMAN", "mass": 107457.0, "length": 1007, "protein_name": "Roundabout homolog 4", "gene_name": "ROBO4", "organism": "Human", "refseq_name": "roundabout homolog 4 isoform 2", "refseq_ac": "NP_001288017", "gene_names_uniprotkb": "ROBO4; PRO3674", "gene_names_refseq": "AOVD3; ECSM4; MRB; ROBO4", "protein_names_uniprotkb": "Roundabout homolog 4; Magic roundabout", "protein_names_refseq": "roundabout homolog 4 isoform 2; roundabout homolog 4, magic roundabout; roundabout, axon guidance receptor, homolog 4", "tax_id": 9606, "disease": "aortic valve disease 3 (Disease Ontology:DOID:0080977); pre-eclampsia (Disease Ontology:DOID:10591); transient cerebral ischemia (Disease Ontology:DOID:224); thyroid gland carcinoma (Disease Ontology:DOID:3963)", "pathway": " (hsa:54538)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11944987;12975309;15894287;16335952;18452278;19139490;23090970;24275569;29557506;30237853;30455415;30459171;31154438;31848261;32502341;33141586;33318575;33495827;33592498;33968037;34171305;34932366;35051231;35580925;35726111;37430272;37938771;38700874", "class_list": "", "function": "Downregulation of ROBO4 in Pancreatic Cancer Serves as a Biomarker of Poor Prognosis and Indicates Increased Cell Motility and Proliferation Through Activation of MMP-9., [RefSeq, PubMed]; MiR-140-5p regulates vascular smooth muscle cell viability, migration and apoptosis by targeting ROBO4 gene expression in atherosclerosis., [RefSeq, PubMed]; Receptor for Slit proteins, at least for SLIT2, and seems to be involved in angiogenesis and vascular patterning. May mediate the inhibition of primary endothelial cell migration by Slit proteins (By similarity). Involved in the maintenance of endothelial barrier organization and function (PubMed:30455415)., [UniProtKB, PubMed]; Roundabout gene family extends beyond neuronal tissue and that roundabout/slit interactions are likely to have a role in angiogenesis, [RefSeq, PubMed]; Structural insights and evaluation of the potential impact of missense variants on the interactions of SLIT2 with ROBO1/4 in cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; The Role of SLIT3-ROBO4 Signaling in Endoplasmic Reticulum Stress-Induced Delayed Corneal Epithelial and Nerve Regeneration., [RefSeq, PubMed]; The role of TET2-mediated ROBO4 hypomethylation in the development of diabetic retinopathy. Publication Status: Online-Only, [RefSeq, PubMed]; We therefore hypothesize that expression of MRB is involved in regulating the migration of endothelial cells during tumor angiogenesis., [RefSeq, PubMed]", "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": 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 6, "disease_count": 4, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A8K154;Q14DU7;Q8TEG1;Q96JV6;Q9H718;Q9NWJ8", "ec_number_list": "", "go_molecular_function": "GO:0098632 cell-cell adhesion mediator activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0061028 establishment of endothelial barrier;GO:0001525 angiogenesis;GO:0030334 regulation of cell migration;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q8WZ75-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92753-2", "uniprot_id": "RORB_HUMAN", "mass": 53220.0, "length": 470, "protein_name": "Nuclear receptor ROR-beta", "gene_name": "RORB", "organism": "Human", "refseq_name": "nuclear receptor ROR-beta isoform 2", "refseq_ac": "NP_001351952", "gene_names_uniprotkb": "RORB; NR1F2; RZRB", "gene_names_refseq": "EIG15; NR1F2; ROR-BETA; RORB; RORbeta; RZR-BETA; RZRB; bA133M9.1", "protein_names_uniprotkb": "Nuclear receptor ROR-beta; Nuclear receptor RZR-beta; Nuclear receptor subfamily 1 group F member 2; Retinoid-related orphan receptor-beta", "protein_names_refseq": "RAR-related orphan receptor beta; nuclear receptor ROR-beta isoform 2; nuclear receptor ROR-beta; nuclear receptor RZR-beta; nuclear receptor subfamily 1 group F member 2; retinoic acid-binding receptor beta; retinoid Z receptor beta; retinoid-related orphan receptor beta", "tax_id": 9606, "disease": "obsolete idiopathic generalized epilepsy 15 (Disease Ontology:DOID:0111316)", "pathway": " (hsa:6096); (R-HSA-383280); (R-HSA-9931509)", "pathway_count": 3, "publication_count": 31, "publication_id_list": "10198158;10235266;10542397;11865025;12377782;15175151;15896744;16751179;21628546;22424782;24196956;27352968;29485866;29557506;31217245;31844290;32157095;32162308;32938616;33141586;33633747;33968037;34065225;34087483;34278502;34405274;35051231;36010968;37278231;37734269;9653119", "class_list": "", "function": "Comprehensive analysis of the prognosis and biological significance of RORbeta in head and neck squamous cell carcinoma., [RefSeq, PubMed]; Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy., [RefSeq, PubMed]; Isoform 1 is critical for hindlimb motor control and for the differentiation of amacrine and horizontal cells in the retina. Regulates the expression of PTF1A synergistically with FOXN4 (By similarity)., [UniProtKB, UniProtKB]; Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Considered to have intrinsic transcriptional activity, have some natural ligands such as all-trans retinoic acid (ATRA) and other retinoids which act as inverse agonists repressing the transcriptional activity. Required for normal postnatal development of rod and cone photoreceptor cells. Modulates rod photoreceptors differentiation at least by inducing the transcription factor NRL-mediated pathway. In cone photoreceptor cells, regulates transcription of OPN1SW. Involved in the regulation of the period length and stability of the circadian rhythm. May control cytoarchitectural patterning of neocortical neurons during development. May act in a dose-dependent manner to regulate barrel formation upon innervation of layer IV neurons by thalamocortical axons. May play a role in the suppression of osteoblastic differentiation through the inhibition of RUNX2 transcriptional activity (By similarity)., [UniProtKB, UniProtKB]; RORB, an Alzheimer's disease susceptibility gene, is associated with viral encephalitis, an Alzheimer's disease risk factor., [RefSeq, PubMed]; RORbeta suppresses the stemness of gastric cancer cells by downregulating the activity of the Wnt signaling pathway., [RefSeq, PubMed]; The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, and to help regulate the expression of some genes involved in circadian rhythm. [provided by RefSeq, Feb 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": 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": "Q8WX73", "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:0004879 nuclear receptor activity", "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:0071300 cellular response to retinoic acid;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q92753-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PX1-1", "uniprot_id": "RN157_HUMAN", "mass": 73579.0, "length": 679, "protein_name": "E3 ubiquitin ligase RNF157", "gene_name": "RNF157", "organism": "Human", "refseq_name": "E3 ubiquitin ligase RNF157 isoform 2", "refseq_ac": "NP_001317430", "gene_names_uniprotkb": "RNF157; KIAA1917", "gene_names_refseq": "RNF157", "protein_names_uniprotkb": "E3 ubiquitin ligase RNF157; 2.3.2.27; RING finger protein 157; RING-type E3 ubiquitin transferase RNF157", "protein_names_refseq": "E3 ubiquitin ligase RNF157 isoform 2; E3 ubiquitin ligase RNF157; RING-type E3 ubiquitin transferase RNF157", "tax_id": 9606, "disease": "", "pathway": " (hsa:114804)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;19913121;20213681;20628086;20800603;23481700;24366607;24714562;25342469;25892735;26728094;28228285;28655764;28832583;29242379;29493099;29632711;30315122;30484775;31844290;33717175;34357683;35580925;36581221", "class_list": "", "function": "Data suggest that RNF157 plays role as downstream effector of both PI3K signaling and MAPK signaling in melanoma cell line; regulation of RNF157 expression is cell-cycle-dependent in melanoma cell line; both CDH1 and CDK2 are involved in modulation of RNF157 stability during melanoma cell proliferation. (PI3K = phosphatidylinositol 3-kinase; CDH1 = E-cadherin; CDK2 = cyclin-dependent kinase 2), [RefSeq, PubMed]; E3 ubiquitin ligase that ubiquitinates APBB1 for its degradation by the proteasome and thus prevents apoptosis and promotes survival of neurons (PubMed:25342469). Has a dual role in neurons as it is also required for dendrite growth and maintenance for which its ligase activity is not critical (PubMed:25342469). May act as a scaffold molecule to regulate this process (PubMed:25342469). Acts as a downstream effector of the interconnected PI3K and MAPK signaling pathways and thus participates in the regulation of the cell cycle (PubMed:28655764)., [UniProtKB, PubMed, PubMed]; E3 ubiquitin ligase., [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, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q8NB72;Q96N56", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031410 cytoplasmic vesicle;GO:0044297 cell body", "go_biological_process": "GO:1903861 positive regulation of dendrite extension;GO:0043066 negative regulation of apoptotic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q96PX1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99729-1", "uniprot_id": "ROAA_HUMAN", "mass": 36225.0, "length": 332, "protein_name": "Heterogeneous nuclear ribonucleoprotein A/B", "gene_name": "HNRNPAB", "organism": "Human", "refseq_name": "heterogeneous nuclear ribonucleoprotein A/B isoform b", "refseq_ac": "NP_004490", "gene_names_uniprotkb": "HNRNPAB; ABBP1; HNRPAB", "gene_names_refseq": "ABBP1; HNRNPAB; HNRPAB", "protein_names_uniprotkb": "Heterogeneous nuclear ribonucleoprotein A/B; ABBP-1; APOBEC1-binding protein 1; hnRNP A/B", "protein_names_refseq": "ABBP-1; APOBEC1-binding protein 1; apobec-1 binding protein 1; apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1-binding protein 1; heterogeneous nuclear ribonucleoprotein A/B isoform b; hnRNP A/B; hnRNP type A/B protein", "tax_id": 9606, "disease": "transient cerebral ischemia (Disease Ontology:DOID:224); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:3182)", "pathway_count": 1, "publication_count": 94, "publication_id_list": "11237011;14654843;15782174;16964243;1717314;17289661;18669648;18691976;19608861;20068231;21406692;21740066;22121020;23186163;23646949;24129315;24275569;24366607;25418920;25576301;25892735;26154972;26375851;26758079;26992070;27600516;27862975;27920218;28063628;28218747;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30444036;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32265295;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33465208;33592498;33691108;33717175;33968037;33981976;34019948;34087483;34171305;34229054;34396427;34725712;35051231;35083852;35251023;35318648;35561310;35580925;36284347;37165920;37938771;38279469;38665916;38967522;39990658;40596516;40914422;8999813", "class_list": "", "function": "Binds single-stranded RNA. Has a high affinity for G-rich and U-rich regions of hnRNA. Also binds to APOB mRNA transcripts around the RNA editing site., [UniProtKB]; HnRNPAB Promotes Pancreatic Ductal Adenocarcinoma Extravasation and Liver Metastasis by Stabilizing MYC mRNA., [RefSeq, PubMed]; Impact of heterogeneous nuclear ribonucleoprotein A/B subtype overexpression on the expression of cancer stem cell markers CD133 and CD44 and cellular proliferation capacity. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of hnRNPAB reduces the stem cell properties and enhances the chemosensitivity of human colorectal cancer stem cells., [RefSeq, PubMed]; MicroRNA8063 targets heterogeneous nuclear ribonucleoprotein AB to inhibit the selfrenewal of colorectal cancer stem cells via the Wnt/betacatenin pathway., [RefSeq, PubMed]; This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are produced by RNA polymerase II and are components of the heterogeneous nuclear RNA (hnRNA) complexes. They 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, which binds to one of the components of the multiprotein editosome complex, has two repeats of quasi-RRM (RNA recognition motif) domains that bind to RNAs. Two alternatively spliced transcript variants encoding different isoforms have been described 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "B3KNN5;D3DWP7;Q04150;Q8N7U3;Q9BQ99", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0044877 protein-containing complex binding;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0030425 dendrite;GO:0000785 chromatin", "go_biological_process": "GO:0060341 regulation of cellular localization;GO:0016556 mRNA modification;GO:0045893 positive regulation of DNA-templated transcription;GO:0001837 epithelial to mesenchymal transition;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q99729-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BXT8-3", "uniprot_id": "RNF17_HUMAN", "mass": 184643.0, "length": 1623, "protein_name": "RING finger protein 17", "gene_name": "RNF17", "organism": "Human", "refseq_name": "RING finger protein 17 isoform 1", "refseq_ac": "NP_112567", "gene_names_uniprotkb": "RNF17; TDRD4", "gene_names_refseq": "Mmip-2; RNF17; SPATA23; TDRD4", "protein_names_uniprotkb": "RING finger protein 17; Tudor domain-containing protein 4", "protein_names_refseq": "RING finger protein 17 isoform 1; spermatogenesis associated 23; tudor domain containing 4; tudor domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:56163)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11279525;21515969;24377578;27903633;29557506;30379171;30484775;35051231;35494241;35580925", "class_list": "", "function": "Further mining of the UBE2U interactome uncovered its cognate E3 RNF17 as a novel factor that, via the radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties (RIDDLE) syndrome protein RNF168, enforces DNA damage responses., [RefSeq, PubMed]; Seems to be involved in regulation of transcriptional activity of MYC. In vitro, inhibits DNA-binding activity of Mad-MAX heterodimers. Can recruit Mad transcriptional repressors (MXD1, MXD3, MXD4 and MXI1) to the cytoplasm. May be involved in spermiogenesis (By similarity)., [UniProtKB]; TDRD4 mRNA is expressed in a subset of liver cancers, and TDRD4 is a candidate CT antigen for liver cancer., [RefSeq, PubMed]; TDRD4 showed significant up-regulation in invasive ductal breast carcinoma., [RefSeq, PubMed]; This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [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": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T2J9;Q6P1W3;Q9BXT7;Q9NUY9", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9BXT8-3", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BY78-1", "uniprot_id": "RNF26_HUMAN", "mass": 47737.0, "length": 433, "protein_name": "E3 ubiquitin-protein ligase RNF26", "gene_name": "RNF26", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF26", "refseq_ac": "NP_114404", "gene_names_uniprotkb": "RNF26", "gene_names_refseq": "RNF26", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF26; 2.3.2.27; RING finger protein 26", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF26; ring finger protein with leucine zipper", "tax_id": 9606, "disease": "", "pathway": " (hsa:79102)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11352657;16303743;16497976;19913121;20628086;21750715;23719902;24715725;25254379;25418920;26811146;26992070;27368102;27846572;28228285;28832583;28904123;29393594;29508533;29769354;30315122;30379171;30410026;30429286;31844290;31848261;31937595;32387766;32502341;32614325;32897882;32938616;33141586;33298915;33472082;33592498;33912179;33968037;34509645;35051231", "class_list": "", "function": "E3 ubiquitin-protein ligase that plays a key role in endosome organization by retaining vesicles in the perinuclear cloud (PubMed:27368102). Acts as a platform for perinuclear positioning of the endosomal system by mediating ubiquitination of SQSTM1 through interaction with the ubiquitin conjugating enzyme UBE2J1 (PubMed:27368102, PubMed:33472082). Ubiquitinated SQSTM1 attracts specific vesicle-associated adapters, forming a molecular bridge that restrains cognate vesicles in the perinuclear region and organizes the endosomal pathway for efficient cargo transport (PubMed:27368102, PubMed:33472082). Also acts as a regulator of type I interferon production in response to viral infection by mediating the formation of 'Lys-11'-linked polyubiquitin chains on TMEM173/STING, leading to stabilize TMEM173/STING (PubMed:25254379, PubMed:32614325). Also required to limit type I interferon response by promoting autophagic degradation of IRF3 (PubMed:25254379)., [UniProtKB, PubMed, PubMed, PubMed, 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]; Study reveals the endoplasmic reticulum (ER)-located ubiquitin ligase Ring finger protein 26 (RNF26) as the global architect of the entire endosomal system, including the trans-Golgi network., [RefSeq, PubMed]; The protein encoded by this intronless gene contains a C3HC5 type of RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. The expression of this gene was found to be upregulated in cancer cell lines derived from different types of 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": 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": 5, "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": "Q542Y8", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0007032 endosome organization;GO:0016567 protein ubiquitination;GO:0070979 protein K11-linked ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:1905719 protein localization to perinuclear region of cytoplasm", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9BY78-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H0U6-1", "uniprot_id": "RM18_HUMAN", "mass": 20577.0, "length": 180, "protein_name": "Large ribosomal subunit protein uL18m", "gene_name": "MRPL18", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL18m isoform 2", "refseq_ac": "NP_001305746", "gene_names_uniprotkb": "MRPL18; HSPC071", "gene_names_refseq": "HSPC071; L18mt; MRP-L18; MRPL18; uL18m", "protein_names_uniprotkb": "Large ribosomal subunit protein uL18m; 39S ribosomal protein L18, mitochondrial; L18mt; MRP-L18", "protein_names_refseq": "39S ribosomal protein L18, mitochondrial; large ribosomal subunit protein uL18m isoform 2; mitochondrial large ribosomal subunit protein uL18m", "tax_id": 9606, "disease": "", "pathway": " (hsa:29074); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 61, "publication_id_list": "11230166;11551941;15358359;17803939;18429816;18782833;19524667;19716793;20186120;21685364;21907147;22172991;2250005;25233460;25278503;25418920;26992070;27029019;27846572;27920218;28218747;28228285;28510447;28832583;28834231;28892042;29242379;29317506;29437277;29493099;29557506;29632046;29786170;30192525;30315122;30410026;30429286;30524438;31222486;31530632;31844290;31848261;32157095;32897882;32983136;33141586;33243891;33592498;33717175;33878294;33912179;33968037;34171305;34561969;35154160;35177605;36241641;36284347;36302763;36596788;37141370", "class_list": "", "function": "This nuclear gene encodes a protein component of the larger 39S subunit of mitochondrial ribosome. This protein may also aid in the import of nuclear-encoded 5S rRNA into mitochondria. Alternative splicing results in multiple transcript variants, most of which are not predicted to encode a protein. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Jan 2016]., [RefSeq]; Together with thiosulfate sulfurtransferase (TST), acts as a mitochondrial import factor for the cytosolic 5S rRNA. The precursor form shows RNA chaperone activity; is able to fold the 5S rRNA into an import-competent conformation that is recognized by rhodanese (TST). Both the cytoplasmic and mitochondrial forms are able to bind to the helix IV-loop D in the gamma domain of the 5S rRNA., [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": 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": "Q5TAP9;Q9NZW8", "ec_number_list": "", "go_molecular_function": "GO:0008097 5S rRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005615 extracellular space;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005761 mitochondrial ribosome", "go_biological_process": "GO:0006412 translation;GO:0035928 rRNA import into mitochondrion;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9H0U6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H9V4-1", "uniprot_id": "RN122_HUMAN", "mass": 17475.0, "length": 155, "protein_name": "RING finger protein 122", "gene_name": "RNF122", "organism": "Human", "refseq_name": "RING finger protein 122", "refseq_ac": "NP_079063", "gene_names_uniprotkb": "RNF122", "gene_names_refseq": "RNF122", "protein_names_uniprotkb": "RING finger protein 122", "protein_names_refseq": "RING finger protein 122", "tax_id": 9606, "disease": "", "pathway": " (hsa:79845)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "16751333;16778963;24715725;28710364;29242379;39218810", "class_list": "", "function": "Findings indicate genetic association between E3 ubiquitin ligase RNF122 and Attention Deficit Disorders with Hyperactivity (ADHD). Publication Status: Online-Only, [RefSeq, PubMed]; May induce necrosis and apoptosis. May play a role in cell viability., [UniProtKB, PubMed]; RNF122 promotes glioblastoma growth via the JAK2/STAT3/c-Myc signaling Axis. Erratum:[CNS Neurosci Ther. 2025 Mar;31(3):e70317. doi: 10.1111/cns.70317. PMID: 40078004], [RefSeq, PubMed]; The encoded protein contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. The encoded protein is localized to the endoplasmic reticulum and golgi apparatus, and may be associated with cell viability. [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": 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": "Q52LK3", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0010917 negative regulation of mitochondrial membrane potential;GO:0051865 protein autoubiquitination", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9H9V4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9ULK6-1", "uniprot_id": "RN150_HUMAN", "mass": 48072.0, "length": 438, "protein_name": "RING finger protein 150", "gene_name": "RNF150", "organism": "Human", "refseq_name": "RING finger protein 150 precursor", "refseq_ac": "NP_065775", "gene_names_uniprotkb": "RNF150; KIAA1214", "gene_names_refseq": "RNF150", "protein_names_uniprotkb": "RING finger protein 150", "protein_names_refseq": "RING finger protein 150 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:57484)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;25609945;25645385;28121444;29557506;32938616;33968037;34171305;34932366", "class_list": "", "function": "Rs10007052 in the RNF150 gene is significantly associated with the risk of COPD in Chinese populations of Hainan province. Publication Status: Online-Only, [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": 19, "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": "Q3T1D0;Q6ZNW6", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9ULK6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2Y1-1", "uniprot_id": "RPC10_HUMAN", "mass": 12320.0, "length": 108, "protein_name": "DNA-directed RNA polymerase III subunit RPC10", "gene_name": "POLR3K", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase III subunit RPC10", "refseq_ac": "NP_057394", "gene_names_uniprotkb": "POLR3K; My010; RPC11", "gene_names_refseq": "C11-RNP3; C11; HLD21; My010; POLR3K; RPC10; RPC11; RPC12.5", "protein_names_uniprotkb": "DNA-directed RNA polymerase III subunit RPC10; DNA-directed RNA polymerase III subunit K; HsC11p; RNA polymerase III 12.5 kDa subunit; RNA polymerase III subunit C10; RNA polymerase III subunit C11; RPC11; RPC12.5; hRPC11", "protein_names_refseq": "DNA-directed RNA polymerase III subunit K; DNA-directed RNA polymerase III subunit RPC10; DNA-directed RNA polymerases III 12.5 kDa polypeptide; RNA polymerase III 12.5 kDa subunit; RNA polymerase III subunit C10; RNA polymerase III subunit C11; RNA polymerase III subunit CII; polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa; polymerase (RNA) III subunit K", "tax_id": 9606, "disease": "hypomyelinating leukodystrophy (Disease Ontology:DOID:0060786); hypomyelinating leukodystrophy 21 (Disease Ontology:DOID:0070407)", "pathway": " (hsa:51728); (R-HSA-1834949); (R-HSA-73780); (R-HSA-73980); (R-HSA-749476); (R-HSA-76061); (R-HSA-76066); (R-HSA-76071)", "pathway_count": 8, "publication_count": 53, "publication_id_list": "10079944;10421633;11056176;11118217;11419933;11463379;12381659;12391170;16728641;19158675;19158676;19158679;1946469;19609254;19631370;20413673;21398614;23251783;23388631;2404611;25418920;26288249;27600516;27920218;28228285;28832583;28855257;29242379;29485866;29508533;29632711;30315122;30584594;33335104;33558764;33558766;33674783;34675218;39894887;7568218;7891697;7995525;8035818;8308883;8407894;8423814;9003788;9171375;9234698;9312031;9418884;9660958;9869639", "class_list": "", "function": "Core component of RNA polymerase III (Pol III) which synthesizes small non-coding RNAs using the four ribonucleoside triphosphates as substrates (PubMed:20413673, PubMed:30584594, PubMed:33335104, PubMed:33558764, PubMed:33558766, PubMed:33674783, PubMed:34675218). Can mediate Pol I proofreading of the nascent RNA transcript. Anchors into the Pol III active site to constantly monitor transcription fidelity, cleaves mis-incorporated 5'-ribonucleotides and restarts the transcription process. Once Pol III reaches the poly(dT) termination signal, can induce Pol III clamp opening and transcription termination (By similarity) (PubMed:33335104, PubMed:33558764, PubMed:33558766, PubMed:33674783, PubMed:34675218). Pol III plays an important role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as a nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF-kappa-B through the RIG-I pathway (PubMed:19609254, PubMed:19631370)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Cryo-EM structures of human RNA polymerase III in its unbound and transcribing states., [RefSeq, PubMed]; Results from a study on gene expression variability markers in early-stage human embryos shows that POLR3K is a putative expression variability marker for the 3-day, 8-cell embryo stage. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. Pseudogenes of this gene are found on chromosomes 13 and 17.[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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q1W6H4;Q96S35", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005666 RNA polymerase III complex", "go_biological_process": "GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0006383 transcription by RNA polymerase III;GO:0006386 termination of RNA polymerase III transcription;GO:0006384 transcription initiation at RNA polymerase III promoter", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9Y2Y1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TEE9-1", "uniprot_id": "SAP25_HUMAN", "mass": 20873.0, "length": 199, "protein_name": "Histone deacetylase complex subunit SAP25", "gene_name": "SAP25", "organism": "Human", "refseq_name": "histone deacetylase complex subunit SAP25 isoform 3", "refseq_ac": "NP_001335606", "gene_names_uniprotkb": "SAP25", "gene_names_refseq": "SAP25", "protein_names_uniprotkb": "Histone deacetylase complex subunit SAP25; 25 kDa Sin3-associated polypeptide; Sin3 corepressor complex subunit SAP25", "protein_names_refseq": "25 kDa Sin3-associated polypeptide; Histone deacetylase complex subunit SAP25; Sin3 corepressor complex subunit SAP25; Sin3A-associated protein, 25kDa; histone deacetylase complex subunit SAP25 isoform 3; sin3-associated polypeptide, 25kDa; sin3A-binding protein 25", "tax_id": 9606, "disease": "", "pathway": " (hsa:100316904)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;16449650;32157095;39435885", "class_list": "", "function": "Distinct Regions within SAP25 Recruit O-Linked Glycosylation, DNA Demethylation, and Ubiquitin Ligase and Hydrolase Activities to the Sin3/HDAC Complex., [RefSeq, PubMed]; Involved in the transcriptional repression mediated by the mSIN3A but not the N-CoR corepressor complex., [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:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8TEE9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NK97-1", "uniprot_id": "S22AK_HUMAN", "mass": 60459.0, "length": 555, "protein_name": "Solute carrier family 22 member 20", "gene_name": "SLC22A20P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "SLC22A20P; OAT6; SLC22A20", "gene_names_refseq": "", "protein_names_uniprotkb": "Solute carrier family 22 member 20; Organic anion transporter 6; Solute carrier family 22 member 20 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "29393594;29557506;29769354;33392160;35051231", "class_list": "", "function": "Organic anion transporter that mediates the uptake of estrone sulfate. Inhibited by probenecid, propionate, 2-methylbutyrate, 3-methylbutyrate, benzoate, heptanoate and 2-ethylhaxanoate. May act as an odorant transporter (By similarity)., [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": "B9EJB2;Q6ZN88", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0015711 organic anion transport", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A6NK97-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96H78-1", "uniprot_id": "S2544_HUMAN", "mass": 35392.0, "length": 314, "protein_name": "Solute carrier family 25 member 44", "gene_name": "SLC25A44", "organism": "Human", "refseq_name": "solute carrier family 25 member 44 isoform 1", "refseq_ac": "NP_001273113", "gene_names_uniprotkb": "SLC25A44; KIAA0446", "gene_names_refseq": "SLC25A44", "protein_names_uniprotkb": "Solute carrier family 25 member 44", "protein_names_refseq": "solute carrier family 25 member 44 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9673); (R-HSA-70895)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10832746;10947204;11013134;11181649;11237011;11264579;11406611;11738050;12269802;12359132;12434311;12696021;13416257;14752098;15166214;1527093;15342248;15576032;16023992;16141215;16303743;16949250;17371050;20877624;22291014;22956686;23266187;23485643;24449431;26251176;3082934;31435015;31844290;31937595;32157095;32938616;33298915;33762134;34073512;34509645;35051231;3597357;36010968;6928646;7356336;8824301;9165094;9214289;9889013", "class_list": "", "function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Genome Evolutionary Dynamics Meets Functional Genomics: A Case Story on the Identification of SLC25A44. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial solute transporter which transports branched-chain amino acid (BCAA; valine, leucine and isoleucine) into mitochondria in brown adipose tissue (BAT) (By similarity). BAT is involved in BCAA catabolism and actively utilizes BCAA in the mitochondria for thermogenesis (PubMed:31435015)., [UniProtKB, PubMed, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; SLC25A44 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]., [RefSeq]; The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44., [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": "O75034", "ec_number_list": "", "go_molecular_function": "GO:0015658 branched-chain amino acid transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0031966 mitochondrial membrane;GO:0016020 membrane", "go_biological_process": "GO:0009083 branched-chain amino acid catabolic process;GO:0006865 amino acid transport;GO:0015803 branched-chain amino acid transport;GO:0120161 regulation of cold-induced thermogenesis", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q96H78-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96F10-1", "uniprot_id": "SAT2_HUMAN", "mass": 19155.0, "length": 170, "protein_name": "Thialysine N-epsilon-acetyltransferase", "gene_name": "SAT2", "organism": "Human", "refseq_name": "thialysine N-epsilon-acetyltransferase isoform 2", "refseq_ac": "NP_001307775", "gene_names_uniprotkb": "SAT2; SSAT2", "gene_names_refseq": "SAT2; SSAT-2; SSAT2", "protein_names_uniprotkb": "Thialysine N-epsilon-acetyltransferase; 2.3.1.-; 2.3.1.57; Diamine acetyltransferase 2; SSAT-2; Spermidine/spermine N(1)-acetyltransferase 2", "protein_names_refseq": "diamine N-acetyltransferase 2; diamine acetyltransferase 2; polyamine N-acetyltransferase 2; spermidine/spermine N(1)-acetyltransferase 2; thialysine N-epsilon-acetyltransferase isoform 2; thialysine N-epsilon-acetyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:112483)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;12803540;15283699;16596569;17119850;19608861;19692168;23481700;25880248;28832583;29242379;29493099;29632711;32157095;32502341;32938616;33592498;33968037;35051231;36010968", "class_list": "", "function": "Catalyzes the N-acetylation of the amino acid thialysine (S-(2-aminoethyl)-L-cysteine), a L-lysine analog with the 4-methylene group substituted with a sulfur (PubMed:15283699). May also catalyze acetylation of polyamines, such as norspermidine, spermidine or spermine (PubMed:12803540). However, ability to acetylate polyamines is weak, suggesting that it does not act as a diamine acetyltransferase in vivo (PubMed:15283699)., [UniProtKB, PubMed, PubMed]; Crystallization of this protein and its recombinant form and its complexation with coenzyme A., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The expression of three messengers coding for SAT-1, SAT-2 and GalNAcT-1 in human samples of intestinal cancer and some cell lines (breast cancer and melanomas), was evaluated., [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": "2.3.1.57;2.3.1.-", "go_molecular_function": "GO:0042802 identical protein binding;GO:0004145 diamine N-acetyltransferase activity;GO:0008080 N-acetyltransferase activity;GO:0016747 acyltransferase activity, transferring groups other than amino-acyl groups", "go_cellular_component": "GO:0005737 cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0032918 spermidine acetylation;GO:0032919 spermine acetylation;GO:0032920 putrescine acetylation;GO:0046204 nor-spermidine metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q96F10-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96G79-1", "uniprot_id": "S35A4_HUMAN", "mass": 34593.0, "length": 324, "protein_name": "Probable UDP-sugar transporter protein SLC35A4", "gene_name": "SLC35A4", "organism": "Human", "refseq_name": "probable UDP-sugar transporter protein SLC35A4", "refseq_ac": "NP_542401", "gene_names_uniprotkb": "SLC35A4", "gene_names_refseq": "SLC35A4", "protein_names_uniprotkb": "Probable UDP-sugar transporter protein SLC35A4; Solute carrier family 35 member A4", "protein_names_refseq": "SLC35A4 microprotein; SLC35A4-MP; probable UDP-sugar transporter protein SLC35A4; solute carrier family 35 (UDP-galactose transporter), member A4; tumor rejection antigen", "tax_id": 9606, "disease": "", "pathway": " (hsa:113829); (R-HSA-9939291)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10545611;11592034;11709191;11741828;12966029;14627679;15121789;17030669;17034757;17044012;18195152;19587235;22223806;22522420;23125099;23217329;23359570;23390185;23950983;25279697;25279699;25418920;25621764;25892735;26687144;26923585;26992070;27130732;27493216;27733679;27909055;28167211;28510447;28834231;29393594;29477842;29769354;31949166;32149355;32357974;32938616;33968037;34015330;36010968;38580077", "class_list": "glycogene", "function": "A modulatory role for SLC35A4 in intracellular trafficking of SLC35A2/SLC35A3 complexes., [RefSeq, PubMed]; Mediates the transport of CDP-ribitol (PubMed:34015330). Does not exhibit CMP-sialic acid, UDP-galactose and UDP-N-acetylglucosamine transport activity (PubMed:28167211, PubMed:34015330)., [UniProtKB, PubMed, PubMed]; Required to maintain cellular respiration., [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": 403, "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": "A8K013", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015165 pyrimidine nucleotide-sugar transmembrane transporter activity;GO:0015218 pyrimidine nucleotide transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:1901857 positive regulation of cellular respiration;GO:0032056 positive regulation of translation in response to stress;GO:0055085 transmembrane transport;GO:0006493 protein O-linked glycosylation", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q96G79-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C263-1", "uniprot_id": "SBK2_HUMAN", "mass": 38088.0, "length": 348, "protein_name": "Serine/threonine-protein kinase SBK2", "gene_name": "SBK2", "organism": "Human", "refseq_name": "serine/threonine-protein kinase SBK2", "refseq_ac": "NP_001357025", "gene_names_uniprotkb": "SBK2; SGK069", "gene_names_refseq": "SBK2; SGK069", "protein_names_uniprotkb": "Serine/threonine-protein kinase SBK2; 2.7.11.1; SH3 domain-binding kinase family member 2; SgK069; Sugen kinase 69", "protein_names_refseq": "SH3-binding domain kinase family, member 2; Sugen kinase 69; serine/threonine-protein kinase SBK2", "tax_id": 9606, "disease": "", "pathway": " (hsa:646643)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "12471243;17344846;35051231", "class_list": "", "function": "Better known as SgK069. Contains predicted active kinase domain, classified into the NKF1 metazoan-specific family of kinases. 'Bsk146' is an obsolete term for it's paralog, SBK1. 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": "", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0004708 MAP kinase kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "", "go_biological_process": "GO:0000165 MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "P0C263-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CK97-1", "uniprot_id": "S35E2_HUMAN", "mass": 29079.0, "length": 266, "protein_name": "Solute carrier family 35 member E2A", "gene_name": "SLC35E2A", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "SLC35E2A; SLC35E2", "gene_names_refseq": "", "protein_names_uniprotkb": "Solute carrier family 35 member E2A", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 11, "publication_id_list": "18669648;30315122;30833945;31154438;33298915;33912179;33968037;34171305;34932366;35051231;36241641", "class_list": "", "function": "Putative transporter., [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": "B3KWR0;O75035;Q2TAY8;Q569F8;Q5CZA4;Q5QPR8;Q9Y3J8", "ec_number_list": "", "go_molecular_function": "GO:0015297 antiporter activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0055085 transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "P0CK97-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P29377-1", "uniprot_id": "S100G_HUMAN", "mass": 9016.0, "length": 79, "protein_name": "Protein S100-G", "gene_name": "S100G", "organism": "Human", "refseq_name": "protein S100-G", "refseq_ac": "NP_004048", "gene_names_uniprotkb": "S100G; CABP9K; CALB3; S100D", "gene_names_refseq": "CABP1; CABP9K; CABP; CALB3; S100G", "protein_names_uniprotkb": "Protein S100-G; CABP; Calbindin-D9k; S100 calcium-binding protein G; Vitamin D-dependent calcium-binding protein, intestinal", "protein_names_refseq": "calbindin 3, (vitamin D-dependent calcium-binding protein); calbindin D9K; calbindin-D9k; protein S100-G; vitamin D-dependent calcium-binding protein, intestinal", "tax_id": 9606, "disease": "pre-eclampsia (Disease Ontology:DOID:10591); gestational diabetes (Disease Ontology:DOID:11714)", "pathway": " (hsa:795)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "1379540;1610358;17712966;20214988;23132313;26992070;31154438;36215666;8308886", "class_list": "", "function": "Addition of short-chain fatty acids to cultured Caco-2 cells results in elevation of calbindin-D9k mRNA., [RefSeq, PubMed]; Cultured syncytiotrophoblast cells express calbindin-D9k and calbindin-D28k genes, which are stimulated by calcitriol, [RefSeq, PubMed]; Parathyroid hormone may inhibit or counteract the increase in CaBP-D9k mRNA caused by 1,25-(OH)2-D3 in Caco-2 cells., [RefSeq, PubMed]; This gene encodes calbindin D9K, a vitamin D-dependent calcium-binding protein. This cytosolic protein belongs to a family of calcium-binding proteins that includes calmodulin, parvalbumin, troponin C, and S100 protein. In the intestine, the protein is vitamin D-dependent and its expression correlates with calcium transport activity. The protein may increase Ca2+ absorption by buffering Ca2+ in the cytoplasm and increase ATP-dependent Ca2+ transport in duodenal basolateral membrane vesicles. [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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JS49", "ec_number_list": "", "go_molecular_function": "GO:0046914 transition metal ion binding;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding;GO:0005499 vitamin D binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "P29377-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P55017-1", "uniprot_id": "S12A3_HUMAN", "mass": 113139.0, "length": 1021, "protein_name": "Solute carrier family 12 member 3", "gene_name": "SLC12A3", "organism": "Human", "refseq_name": "solute carrier family 12 member 3 isoform 1", "refseq_ac": "NP_000330", "gene_names_uniprotkb": "SLC12A3; NCC; TSC", "gene_names_refseq": "NCCT; NCC; SLC12A3; TSC", "protein_names_uniprotkb": "Solute carrier family 12 member 3; NCC; Na-Cl cotransporter; Na-Cl symporter; Thiazide-sensitive sodium-chloride cotransporter", "protein_names_refseq": "Na-Cl symporter; NaCl electroneutral thiazide-sensitive cotransporter; sodium-chloride co-transporter; solute carrier family 12 (sodium/chloride transporter), member 3; solute carrier family 12 member 3 isoform 1; thiazide-sensitive Na-Cl cotransporter; thiazide-sensitive sodium-chloride cotransporter", "tax_id": 9606, "disease": "Gitelman syndrome (Disease Ontology:DOID:0050450); essential hypertension (Disease Ontology:DOID:10825); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:6559); (R-HSA-426117); (R-HSA-5619087)", "pathway_count": 3, "publication_count": 73, "publication_id_list": "40667337;10347194;10600773;10616841;10988270;11168953;11237011;11940055;12008755;12106695;12112667;12368912;13785791;15069170;15687331;16429844;17654016;17873326;17885550;18270262;20091762;20112406;21423148;21613606;22009145;22406640;23186163;23481700;23833262;24715725;25892735;26099046;26154972;28228285;28514659;29393594;29508533;29557506;29993276;30484775;31092671;31154438;31844290;32387766;32938616;33462018;33691108;33772578;33912179;33968037;34079339;34509645;34657521;35051231;35580925;35693921;36351028;36370249;36460433;36792826;36925204;37657006;37702302;37968800;39143061;7629105;8528245;8640224;8663127;8812482;8900229;8954067;9734597", "class_list": "", "function": "Electroneutral sodium and chloride ion cotransporter, which acts as a key mediator of sodium and chloride reabsorption in kidney distal convoluted tubules (PubMed:18270262, PubMed:21613606, PubMed:22009145, PubMed:36351028, PubMed:36792826). Also acts as a receptor for the pro-inflammatory cytokine IL18, thereby contributing to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2 (By similarity). May act either independently of IL18R1, or in a complex with IL18R1 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; From Fish Physiology to Human Disease: The Discovery of the NCC, NKCC2, and the Cation-Coupled Chloride Cotransporters., [RefSeq, PubMed]; Novel heterozygous mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome: A care-compliant case report., [RefSeq, PubMed]; Spectrum of variants in a large Chinese Gitelman syndrome cohort., [RefSeq, PubMed]; Structure and thiazide inhibition mechanism of the human Na-Cl cotransporter., [RefSeq, PubMed]; This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulation of SLC12A3 and SLC12A9 Mediated by the HCP5/miR-140-5p Axis Confers Aggressiveness and Unfavorable Prognosis in Uveal Melanoma., [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": 2, "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": 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": 15, "reported_mutagensis": 25, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8MSJ2;C9JNN9", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0015378 sodium:chloride symporter activity;GO:0008511 sodium:potassium:chloride symporter activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0006884 cell volume homeostasis;GO:1902476 chloride transmembrane transport;GO:0035725 sodium ion transmembrane transport;GO:0006814 sodium ion transport;GO:0055075 potassium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "P55017-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P62273-1", "uniprot_id": "RS29_HUMAN", "mass": 6677.0, "length": 56, "protein_name": "Small ribosomal subunit protein uS14", "gene_name": "RPS29", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS14 isoform 1", "refseq_ac": "NP_001023", "gene_names_uniprotkb": "RPS29", "gene_names_refseq": "DBA13; RPS29; S29; uS14", "protein_names_uniprotkb": "Small ribosomal subunit protein uS14; 40S ribosomal protein S29", "protein_names_refseq": "40S ribosomal protein S29; small ribosomal subunit protein uS14 isoform 1; small ribosomal subunit protein uS14", "tax_id": 9606, "disease": "Diamond-Blackfan anemia 13 (Disease Ontology:DOID:0111889)", "pathway": " (hsa:6235); (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": 304, "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;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16112985;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;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;19531498;19556969;19564402;19608861;19608919;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20112406;20166139;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22174690;22190735;22195017;22855488;22869377;22916032;23035226;23085078;23186163;23217742;23234702;23269699;23439679;23482395;23636399;23646949;23746841;2388630;24129315;24397554;24424021;24524803;24550520;24714562;24715725;24829207;25132172;25242263;25418920;25432065;25525153;25576301;25645385;25802875;25810538;25901680;25957688;25969445;26154972;26237581;26375851;26728094;26811146;26929215;26992070;27397612;27503676;27526673;27600516;27726376;27846572;27862975;28063628;28065601;28132843;28228285;28514659;28649982;28685749;28832583;28834231;28855257;29242379;29314611;29331515;29371260;29393594;29413899;29493099;29508533;29557506;29632046;29632711;29786170;30192525;30293783;30315122;30429286;30484775;30779550;30804176;30833945;31020640;31154438;31217245;31844290;31848261;31998317;32099016;32157095;32161166;32357974;32387766;32488085;32502341;32579943;32680882;32897882;32908316;32938616;32983136;32995776;32995777;33043033;33080218;33123756;33141586;33188728;33214551;33268501;33298915;33392160;33479166;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34185709;34315815;34357683;34373319;34433824;34509645;34561969;34624207;34932366;35051231;35561310;35580925;36010968;36215666;36241641;36284347;36302773;36581221;36610391;37217939;37938771;38665916;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7772601;7990965;8336711;8407925;8706699;8781548;8890909;8943342;9045610;9211906;9431993;9482744;9582194;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Component of the small ribosomal subunit (PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:25901680, PubMed:25957688)., [UniProtKB, PubMed, PubMed, PubMed]; Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; 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 and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]., [RefSeq]; We uncovered a novel Diamond-Blackfan anemia causative gene, RPS29, [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": 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": "A8MZ73;P30054", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003735 structural constituent of ribosome;GO:0003723 RNA binding", "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:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 30.7, "record_id": "P62273-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P80511-1", "uniprot_id": "S10AC_HUMAN", "mass": 10575.0, "length": 92, "protein_name": "Protein S100-A12", "gene_name": "S100A12", "organism": "Human", "refseq_name": "protein S100-A12", "refseq_ac": "NP_005612", "gene_names_uniprotkb": "S100A12", "gene_names_refseq": "CAAF1; CAGC; CGRP; ENRAGE; MRP-6; MRP6; S100A12; p6", "protein_names_uniprotkb": "Protein S100-A12; CAAF1; CAGC; CGRP; Calcium-binding protein in amniotic fluid 1; Calgranulin-C; EN-RAGE; Extracellular newly identified RAGE-binding protein; MRP-6; Migration inhibitory factor-related protein 6; Neutrophil S100 protein; S100 calcium-binding protein A12; p6", "protein_names_refseq": "EN-RAGE; calcitermin; calcium-binding protein in amniotic fluid 1; calgranulin C; extracellular newly identified RAGE-binding protein; migration inhibitory factor-related protein 6; neutrophil S100 protein; protein S100-A12", "tax_id": 9606, "disease": "", "pathway": " (hsa:6283); (R-HSA-445989); (R-HSA-6798695); (R-HSA-879415); (R-HSA-933542)", "pathway_count": 5, "publication_count": 54, "publication_id_list": "10531386;10723127;11095613;11134923;11522286;12042313;12221085;12470955;12645006;12777802;12935895;15145317;16056267;1651976;17047224;17208591;17728323;18292089;18443896;18462684;1860454;19386136;19501594;19666475;19935766;20213444;20523765;22811950;23650620;27701768;29557506;29632711;29786170;32157095;32983136;33043033;33123756;34171305;35580925;36284347;36637406;37863883;37880318;38492210;7626002;8529130;8619860;8619876;8692836;8769108;8985590;9008162;9689078;9865693", "class_list": "glycogene", "function": "Impact of C- and N-terminal protection on the stability, metal chelation and antimicrobial properties of calcitermin. Publication Status: Online-Only, [RefSeq, PubMed]; Increased serum S100A12 levels are associated with higher risk of acute heart failure in patients with type 2 diabetes., [RefSeq, PubMed]; Multivariate analyses of immune markers reveal increases in plasma EN-RAGE in first-episode psychosis patients. Publication Status: Online-Only, [RefSeq, PubMed]; S100A12 is a calcium-, zinc- and copper-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response. Its pro-inflammatory activity involves recruitment of leukocytes, promotion of cytokine and chemokine production, and regulation of leukocyte adhesion and migration. Acts as an alarmin or a danger associated molecular pattern (DAMP) molecule and stimulates innate immune cells via binding to receptor for advanced glycation endproducts (AGER). Binding to AGER activates the MAP-kinase and NF-kappa-B signaling pathways leading to production of pro-inflammatory cytokines and up-regulation of cell adhesion molecules ICAM1 and VCAM1. Acts as a monocyte and mast cell chemoattractant. Can stimulate mast cell degranulation and activation which generates chemokines, histamine and cytokines inducing further leukocyte recruitment to the sites of inflammation. Can inhibit the activity of matrix metalloproteinases; MMP2, MMP3 and MMP9 by chelating Zn(2+) from their active sites. Possesses filariacidal and filariastatic activity. Calcitermin possesses antifungal activity against C.albicans and is also active against E.coli and P.aeruginosa but not L.monocytogenes and S.aureus., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; S100A12 is involved in the pathology of osteoarthritis by promoting M1 macrophage polarization via the NF-kappaB pathway., [RefSeq, PubMed]; The antimicrobial peptide calcitermin was isolated from human airway secretions and targets Gram-negative bacteria., [RefSeq, PubMed]; The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is proposed to be involved in specific calcium-dependent signal transduction pathways and its regulatory effect on cytoskeletal components may modulate various neutrophil activities. The protein includes an antimicrobial peptide which has antibacterial activity. [provided by RefSeq, Nov 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": 143, "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": "P83219;Q5SY66;Q7M4R1", "ec_number_list": "", "go_molecular_function": "GO:0050786 RAGE receptor binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0006954 inflammatory response;GO:0045087 innate immune response;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0006805 xenobiotic metabolic process;GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "P80511-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P82663-1", "uniprot_id": "RT25_HUMAN", "mass": 20116.0, "length": 173, "protein_name": "Small ribosomal subunit protein mS25", "gene_name": "MRPS25", "organism": "Human", "refseq_name": "small ribosomal subunit protein mS25", "refseq_ac": "NP_071942", "gene_names_uniprotkb": "MRPS25; RPMS25", "gene_names_refseq": "COXPD50; MRP-S25; MRPS25; RPMS25; mS25", "protein_names_uniprotkb": "Small ribosomal subunit protein mS25; 28S ribosomal protein S25, mitochondrial; MRP-S25; S25mt", "protein_names_refseq": "28S ribosomal protein S25, mitochondrial; S25mt; mitochondrial 28S ribosomal protein S25; mitochondrial small ribosomal subunit protein mS25; small ribosomal subunit protein mS25", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 50 (Disease Ontology:DOID:0112111)", "pathway": " (hsa:64432); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 49, "publication_id_list": "10938081;11214971;11237011;15358359;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21907147;22172991;2250005;24714562;25233460;25418920;25576301;25838379;25892735;27029019;28218747;28228285;28510447;28892042;28904123;29557506;29769354;31039582;31154438;31217245;31530632;31844290;32157095;32387766;32983136;33141586;33243891;33691108;33717175;33878294;33912179;34357683;35051231;36241641;36302763;36581221;36596788;37141370", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Our data demonstrate the pathogenicity of the p.P72L variant and identify MRPS25 mutations as a new cause of mitochondrial translation defect., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DFJ5;B4DQG6;Q9H7P5", "ec_number_list": "", "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005840 ribosome;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "P82663-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q504Y0-1", "uniprot_id": "S39AC_HUMAN", "mass": 76666.0, "length": 691, "protein_name": "Zinc transporter ZIP12", "gene_name": "SLC39A12", "organism": "Human", "refseq_name": "zinc transporter ZIP12 isoform 1 precursor", "refseq_ac": "NP_001138667", "gene_names_uniprotkb": "SLC39A12; ZIP12", "gene_names_refseq": "LZT-Hs8; SLC39A12; ZIP-12; ZIP12; bA570F3.1", "protein_names_uniprotkb": "Zinc transporter ZIP12; LIV-1 subfamily of ZIP zinc transporter 8; LZT-Hs8; Solute carrier family 39 member 12; ZIP-12; Zrt- and Irt-like protein 12", "protein_names_refseq": "LIV-1 subfamily of ZIP zinc transporter 8; ZRT/IRT-like protein 12; solute carrier family 39 (metal ion transporter), member 12; solute carrier family 39 (zinc transporter), member 12; zinc transporter 12; zinc transporter ZIP12 isoform 1 precursor; zinc transporter ZIP12; zrt- and Irt-like protein 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:221074)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "12107410;15342556;16311021;16385451;16959974;19064571;23716681;25645385;26992070;28834231;29557506;31154438;32716562;32983136;33392160;34932366;35051231;36010968", "class_list": "", "function": "Data indicate that the zinc transporter ZIP12 (slc39a12) is highly expressed in brain., [RefSeq, PubMed]; Examination of the zinc transporter gene, SLC39A12., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Role of zinc transporter ZIP12 in susceptibility-weighted brain magnetic resonance imaging (MRI) phenotypes and mitochondrial function., [RefSeq, PubMed]; Uniporter that promotes Zn(2+) import from the extracellular space to the cytoplasm across the cell membrane. The transport activity is temperature dependent. May play a role in neurulation and neurite extension. May play a key role in maintaining intracellular zinc content at levels that reduce the inhibitory effects of rises in oxidative stress on spermatogonia and spermatozoa viability during spermatogenesis., [UniProtKB, UniProtKB]; Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 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": 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": "B7Z2Y9;B7ZL35;C9JJL4;F5GX72;Q49AN8;Q4G0L3;Q5VWV8;Q5VWV9;Q6NZY5;Q96NN4", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0140410 monoatomic cation:bicarbonate symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:1903561 extracellular vesicle", "go_biological_process": "GO:0030003 intracellular monoatomic cation homeostasis;GO:0071578 zinc ion import across plasma membrane;GO:1990138 neuron projection extension;GO:0001841 neural tube formation", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q504Y0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q52WX2-1", "uniprot_id": "SBK1_HUMAN", "mass": 46252.0, "length": 424, "protein_name": "Serine/threonine-protein kinase SBK1", "gene_name": "SBK1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase SBK1", "refseq_ac": "NP_001019572", "gene_names_uniprotkb": "SBK1", "gene_names_refseq": "SBK1; SBK", "protein_names_uniprotkb": "Serine/threonine-protein kinase SBK1; 2.7.11.1; SH3 domain-binding kinase 1", "protein_names_refseq": "SH3-binding domain kinase 1; serine/threonine-protein kinase SBK1", "tax_id": 9606, "disease": "", "pathway": " (hsa:388228)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;17081983;17344846;21104019;26992070;28834231;28904123;29393594;30379171;31844290;37132991", "class_list": "", "function": "May be involved in signal-transduction pathways related to the control of brain development., [UniProtKB, UniProtKB, UniProtKB]; Results suggest that the wide-spread expression pattern of human SBK1 may predict a broad cellular function, and its dysregulation in certain cancers suggests an involvement of the protein in the pathogenesis of human cancers., [RefSeq, PubMed]; SH3 domain-binding kinase 1 promotes proliferation and inhibits apoptosis of cervical cancer via activating the Wnt/beta-catenin and Raf/ERK1/2 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": 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": "", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "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_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q52WX2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5HYW3-1", "uniprot_id": "RTL5_HUMAN", "mass": 64711.0, "length": 569, "protein_name": "Retrotransposon Gag-like protein 5", "gene_name": "RTL5", "organism": "Human", "refseq_name": "retrotransposon Gag-like protein 5", "refseq_ac": "NP_001019626", "gene_names_uniprotkb": "RTL5; KIAA2001; RGAG4", "gene_names_refseq": "6430402L03Rik; MAR5; MART5; RGAG4; RTL5; SIRH8", "protein_names_uniprotkb": "Retrotransposon Gag-like protein 5; Retrotransposon gag domain-containing protein 4", "protein_names_refseq": "Sushi-Ichi retrotransposon homolog 8; mammalian retrotransposon-derived 5; retrotransposon Gag-like protein 5; retrotransposon gag domain containing 4; retrotransposon gag domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:340526)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "12056414;16093683;25576301;25645385;27846572;28834231;29242379;29557506;29789417;30429286;31092671;31154438;31844290;31848261;32938616;33968037;34185709;35051231;35580925;36010968;37938771", "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": 20, "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": "A7E2W7;Q8NCM4;Q9NPX1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q5HYW3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5M8T2-1", "uniprot_id": "S35D3_HUMAN", "mass": 44183.0, "length": 416, "protein_name": "Solute carrier family 35 member D3", "gene_name": "SLC35D3", "organism": "Human", "refseq_name": "solute carrier family 35 member D3", "refseq_ac": "NP_001008783", "gene_names_uniprotkb": "SLC35D3; FRCL1", "gene_names_refseq": "FRCL1; SLC35D3", "protein_names_uniprotkb": "Solute carrier family 35 member D3; Fringe connection-like protein 1", "protein_names_refseq": "frc, fringe-like 1; fringe connection-like protein 1; solute carrier family 35 member D3", "tax_id": 9606, "disease": "", "pathway": " (hsa:340146)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "24550737;28832583;34269178", "class_list": "glycogene", "function": "Alternatively, could function as a molecular adapter enhancing the formation of the PI3KC3-C1/AIC/autophagy initiation complex to promote autophagy in dopaminergic neurons. Could also regulate the plasma membrane localization of the D(1A) dopamine receptor/DRD1 and dopamine signaling., [UniProtKB, UniProtKB]; Our results suggest that the SLC35D3 gene, close to the D6S1009 locus, is a candidate gene for MetS, which is involved in metabolic control in the central nervous system by regulating dopamine signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Probable UDP-glucose transmembrane transporter involved in UDP-glucose transport from the cytosol to the lumen of synaptic vesicles (PubMed:34269178). It is involved in platelet dense granules maturation (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": 558, "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": "B4DI58;Q5QNZ6;Q6NX71", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0015297 antiporter activity;GO:0005460 UDP-glucose transmembrane transporter activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane;GO:0031901 early endosome membrane;GO:0030672 synaptic vesicle membrane", "go_biological_process": "GO:0055085 transmembrane transport;GO:0010508 positive regulation of autophagy;GO:0060155 platelet dense granule organization;GO:0015786 UDP-glucose transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5M8T2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T1Q4-1", "uniprot_id": "S35F1_HUMAN", "mass": 45346.0, "length": 408, "protein_name": "Solute carrier family 35 member F1", "gene_name": "SLC35F1", "organism": "Human", "refseq_name": "solute carrier family 35 member F1", "refseq_ac": "NP_001025029", "gene_names_uniprotkb": "SLC35F1; C6orf169", "gene_names_refseq": "C6orf169; SLC35F1; dJ230I3.1", "protein_names_uniprotkb": "Solute carrier family 35 member F1", "protein_names_refseq": "solute carrier family 35 member F1", "tax_id": 9606, "disease": "", "pathway": " (hsa:222553)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "19584346;20200953;20639392;25418920;28904123;29557506;31154438;31844290;32387766;34171305;34509645;35051231;37938771;38928424", "class_list": "", "function": "Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Putative solute transporter., [UniProtKB]; Residence of the Nucleotide Sugar Transporter Family Members SLC35F1 and SLC35F6 in the Endosomal/Lysosomal 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": 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": "B4DJ02;E1P564;Q1RMG1;Q4G0U9;Q4G167;Q6N007", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0030672 synaptic vesicle membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q5T1Q4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ICC9-1", "uniprot_id": "RTL6_HUMAN", "mass": 26154.0, "length": 239, "protein_name": "Retrotransposon Gag-like protein 6", "gene_name": "RTL6", "organism": "Human", "refseq_name": "retrotransposon Gag-like protein 6", "refseq_ac": "NP_115663", "gene_names_uniprotkb": "RTL6; LDOC1L; MAR6; MART6", "gene_names_refseq": "LDOC1L; Mar6; Mart6; RTL6; SIRH3; dJ1033E15.2", "protein_names_uniprotkb": "Retrotransposon Gag-like protein 6; Leucine zipper protein down-regulated in cancer cells-like; Mammalian retrotransposon-derived protein 6; Protein LDOC1L", "protein_names_refseq": "LDOC1 like; Sushi-Ichi retrotransposon homolog 3; leucine zipper down-regulated in cancer 1 like; leucine zipper protein down-regulated in cancer cells-like; mammalian retrotransposon-derived 6; mammalian retrotransposon-derived protein 6; protein LDOC1L; retrotransposon Gag-like protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:84247)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "10.1101/2023.09.13.557529;16093683;20112406;25418920;25576301;26154972;26811146;26992070;27600516;27846572;27862975;28218747;28228285;28411811;28834231;29393594;29437277;29557506;29632046;30315122;30429286;30833945;31154438;31844290;31848261;32161166;32265295;32387766;32488085;32938616;33392160;33592498;33912179;33981976;34171305;34932366;35051231;35580925;36010968;36241641;37938771", "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": 7, "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": "Q6ZTR1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q6ICC9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6Q0C1-1", "uniprot_id": "S2547_HUMAN", "mass": 33435.0, "length": 308, "protein_name": "Solute carrier family 25 member 47", "gene_name": "SLC25A47", "organism": "Human", "refseq_name": "solute carrier family 25 member 47 isoform 1", "refseq_ac": "NP_997000", "gene_names_uniprotkb": "SLC25A47; C14orf68; HDMCP; HMFN1655", "gene_names_refseq": "C14orf68; HDCMP; HDMCP; HMFN1655; SLC25A47", "protein_names_uniprotkb": "Solute carrier family 25 member 47; Hepatocellular carcinoma down-regulated mitochondrial carrier protein; Mitochondrial NAD(+) transporter SLC25A47", "protein_names_refseq": "HCC-down-regulated mitochondrial carrier protein; hepatocellular carcinoma down-regulated mitochondrial carrier protein; hepatocellular carcinoma-downregulated mitochondrial carrier protein; mitochondrial NAD(+) transporter SLC25A47; solute carrier family 25 member 47 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:283600)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;15221005;15322095;19303656;20877624;23266187;25418920;36804859;37523565", "class_list": "", "function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; HDMCP might function through promoting ATP depletion and decreasing H(2)O(2) production., [RefSeq, PubMed]; Hepatic mitochondrial NAD + transporter SLC25A47 activates AMPKalpha mediating lipid metabolism and tumorigenesis., [RefSeq, PubMed]; Hepatocellular carcinoma down-regulated mitochondrial carrier protein is a novel liver-specific uncoupling protein, [RefSeq, PubMed]; Mitochondrial NAD(+) transporter that acts as a 'metabolic gate' in hepatic lipogenesis. Provides NAD(+) substrate to mitochondrial SIRT3 deacetylase and enables its NAD(+)-dependent activities in mitochondrial energy metabolism. This triggers downstream activation of PRKAA1/AMPK-alpha signaling cascade that negatively regulates sterol regulatory element-binding protein (SREBP) transcriptional activities and ATP-consuming lipogenesis to restore cellular energy balance. May transport other mitochondrial metabolites having an aromatic nucleotide and phosphate groups, such as acetyl-CoA. Does not transport amino acids. The transport mechanism remains to be elucidated., [UniProtKB, PubMed, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The human glucose and lipid homeostasis-associated genetic polymorphisms do not regulate SLC25A47 gene expression in the liver., [RefSeq, PubMed]; This gene encodes a member of a large family of mitochondrial transporters. The nuclear-encoded carrier protein is embedded in the inner mitochondrial membrane. This member of the family is thought to be an uncoupling protein that uncouples mitochondrial respiration from ATP synthesis by dissipating the transmembrane proton gradient. Alternative splicing results in multiple transcript variants. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "B2RP39;Q68CL2;Q6PZD8;Q86U14", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0008521 acetyl-CoA transmembrane transporter activity;GO:0051724 NAD transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005743 mitochondrial inner membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q6Q0C1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZQQ2-1", "uniprot_id": "S31D1_HUMAN", "mass": 175618.0, "length": 1576, "protein_name": "Spermatogenesis-associated protein 31D1", "gene_name": "SPATA31D1", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 31D1", "refseq_ac": "NP_001001670", "gene_names_uniprotkb": "SPATA31D1; FAM75D1", "gene_names_refseq": "FAM75D1; SPATA31D1", "protein_names_uniprotkb": "Spermatogenesis-associated protein 31D1; Protein FAM75D1", "protein_names_refseq": "FAM75-like protein FLJ46321; family with sequence similarity 75, member D1; protein FAM75D1; spermatogenesis-associated protein 31D1", "tax_id": 9606, "disease": "", "pathway": " (hsa:389763)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "18077418;19413330;24715725;25892735;27920218;28228285;28832583;29557506;29789417;30192525;31092671;31154438;31844290;33298915;33633747;33968037;34211107;35051231", "class_list": "", "function": "May play a role in spermatogenesis., [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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 55, "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:0016020 membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q6ZQQ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86VE3-1", "uniprot_id": "SATL1_HUMAN", "mass": 75812.0, "length": 695, "protein_name": "Spermidine/spermine N(1)-acetyltransferase-like protein 1", "gene_name": "SATL1", "organism": "Human", "refseq_name": "spermidine/spermine N(1)-acetyltransferase-like protein 1 isoform 3", "refseq_ac": "NP_001012998", "gene_names_uniprotkb": "SATL1", "gene_names_refseq": "SATL1", "protein_names_uniprotkb": "Spermidine/spermine N(1)-acetyltransferase-like protein 1; 2.3.1.-", "protein_names_refseq": "spermidine/spermine N(1)-acetyltransferase-like protein 1 isoform 3; spermidine/spermine N(1)-acetyltransferase-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:340562)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;25892735;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": 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": "A0A2R8Y5C1;A0AVK7;E9PB72;Q5H8V9", "ec_number_list": "", "go_molecular_function": "GO:0004145 diamine N-acetyltransferase activity;GO:0019809 spermidine binding;GO:0016747 acyltransferase activity, transferring groups other than amino-acyl groups", "go_cellular_component": "", "go_biological_process": "GO:0032918 spermidine acetylation", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q86VE3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZC4-1", "uniprot_id": "RTKN2_HUMAN", "mass": 69304.0, "length": 609, "protein_name": "Rhotekin-2", "gene_name": "RTKN2", "organism": "Human", "refseq_name": "rhotekin-2 isoform 2", "refseq_ac": "NP_001269870", "gene_names_uniprotkb": "RTKN2; PLEKHK1", "gene_names_refseq": "PLEKHK1; RTKN2; bA531F24.1", "protein_names_uniprotkb": "Rhotekin-2; PH domain-containing family K member 1; Pleckstrin homology domain-containing family K member 1", "protein_names_refseq": "PH domain-containing family K member 1; pleckstrin homology domain-containing family K member 1; rhotekin-2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:219790)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;15120425;15504364;16385451;23028356;25576301;26154972;29557506;30379171;30389712;32157095;32387766;32488085;33311442;33537174;33936100;33968037;33981976;35051231;35254053;36010968;36284347;36952123;37217939;37938771;38155217;38805063", "class_list": "", "function": "CircRNA hsa_circRNA_104348 promotes hepatocellular carcinoma progression through modulating miR-187-3p/RTKN2 axis and activating Wnt/beta-catenin pathway. Publication Status: Online-Only, [RefSeq, PubMed]; CircZFR promotes colorectal cancer progression via stabilizing BCLAF1 and regulating the miR-3127-5p/RTKN2 axis., [RefSeq, PubMed]; Cloning and characterization of gene expression of rhotekin-2., [RefSeq, PubMed]; Hese results suggested that RTKN2 is involved in the progression of human osteosarcoma, and may be a potential therapeutic target. Publication Status: Online-Only, [RefSeq, PubMed]; May play an important role in lymphopoiesis., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RTKN2 Inhibits the Growth, Migration, Invasion and Glycolysis of Lung Adenocarcinoma Cells by Inactivating the NF-kappaB Signalling Pathway., [RefSeq, PubMed]; RTKN2 knockdown alleviates the malignancy of breast cancer cells by regulating the Wnt/beta-catenin pathway. Publication Status: Online-Only, [RefSeq, PubMed]; We identified two gene loci associated with rheumatoid arthritis susceptibility- NFKBIE and RTKN2, [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": 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": "Q3ZCR1;Q68DZ6;Q8N8K1;Q8TAV2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0035556 intracellular signal transduction;GO:0002250 adaptive immune response;GO:0030097 hemopoiesis", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q8IZC4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N5S1-1", "uniprot_id": "S2541_HUMAN", "mass": 40795.0, "length": 370, "protein_name": "Mitochondrial carrier protein SCaMC-3L", "gene_name": "SLC25A41", "organism": "Human", "refseq_name": "mitochondrial carrier protein SCaMC-3L isoform b", "refseq_ac": "NP_001308227", "gene_names_uniprotkb": "SLC25A41", "gene_names_refseq": "APC4; SCaMC-3L; SLC25A41", "protein_names_uniprotkb": "Mitochondrial carrier protein SCaMC-3L; Mitochondrial ATP-Mg/Pi carrier protein SLC25A41; SCaMC-3-like; SCaMC-3L; Small calcium-binding mitochondrial carrier protein 3-like; Solute carrier family 25 member 41", "protein_names_refseq": "SCaMC-3-like; mitochondrial ATP-Mg/Pi carrier protein SLC25A41; mitochondrial carrier protein SCaMC-3L isoform b; mitochondrial carrier protein SCaMC-3L; small calcium-binding mitochondrial carrier protein 3-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:284427)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "16949250;23266187;29549242;31844290;34087483;34105348;35051231", "class_list": "", "function": "Calcium-independent ATP-Mg/Pi exchanger that catalyzes the electroneutral exchange of Mg-ATP or free ADP against an hydrogenphosphate and participates in the net transport of adenine nucleotides across the mitochondria inner membrane., [UniProtKB, UniProtKB]; Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; SLC25A41 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]., [RefSeq]; The APC4 subunit is the major SUMO target in the anaphase-promoting complex/cyclosome, containing SUMO acceptor lysines at positions 772 and 798. 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": 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": "A8MQ40;D6W642;Q8N7R4", "ec_number_list": "", "go_molecular_function": "GO:0005347 ATP transmembrane transporter activity;GO:0015217 ADP transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0015866 ADP transport;GO:0015867 ATP transport;GO:0140021 mitochondrial ADP transmembrane transport;GO:1990544 mitochondrial ATP transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8N5S1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N8U3-1", "uniprot_id": "RTL3_HUMAN", "mass": 52817.0, "length": 475, "protein_name": "Retrotransposon Gag-like protein 3", "gene_name": "RTL3", "organism": "Human", "refseq_name": "retrotransposon Gag-like protein 3", "refseq_ac": "NP_689907", "gene_names_uniprotkb": "RTL3; MAR3; MART3; ZCCHC5", "gene_names_refseq": "Mar3; Mart3; RTL3; SIRH9; ZCCHC5; ZHC5", "protein_names_uniprotkb": "Retrotransposon Gag-like protein 3; Zinc finger CCHC domain-containing protein 5", "protein_names_refseq": "Sushi-Ichi retrotransposon homolog 9; mammalian retrotransposon-derived 3; retrotransposon Gag-like protein 3; zinc finger CCHC domain-containing protein 5; zinc finger CCHC-type containing 5; zinc finger, CCHC domain containing 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:203430)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "16093683;28904123;30484775;31154438;31844290;32161166;33592498;33968037;35051231", "class_list": "", "function": "May function as a transcriptional regulator. Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal., [UniProtKB, UniProtKB]; This gene is a member of a family of gag-related retrotransposon genes. These genes appear to have lost the ability to retrotranspose; however, their open reading frames have remained intact, which may indicate that these genes have acquired new functions in the cell. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B2RMZ0;Q5JQE9", "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": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8N8U3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WXG8-1", "uniprot_id": "S100Z_HUMAN", "mass": 11620.0, "length": 99, "protein_name": "Protein S100-Z", "gene_name": "S100Z", "organism": "Human", "refseq_name": "protein S100-Z", "refseq_ac": "NP_570128", "gene_names_uniprotkb": "S100Z", "gene_names_refseq": "Gm625; S100-zeta; S100Z", "protein_names_uniprotkb": "Protein S100-Z; S100 calcium-binding protein Z", "protein_names_refseq": "S100 calcium binding protein, zeta; protein S100-Z", "tax_id": 9606, "disease": "", "pathway": " (hsa:170591)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11747429;19861958;28074300;30710292;35561310", "class_list": "", "function": "Apo-S100Z has been compared to the structure of zebrafish calcium-S100Z with which it shares 70% sequence identity. It shows that the surface of interaction between the monomers in the dimers decreases; likewise, the surface among the dimers is lower, with the consequent absence of superhelical arrangement in the crystals. Also, calcium binding plays a fundamental role in triggering quaternary structure formation., [RefSeq, PubMed]; Members of the S100 protein family contain 2 calcium-binding EF-hands and exhibit cell-type specific expression patterns. For additional background information on S100 proteins, see MIM 114085.[supplied by OMIM, Mar 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Am J Gastroenterol. 2010 Feb;105(2):479. van der Woude, Janneke C [corrected to van der Woude, C Janneke]], [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:0042803 protein homodimerization activity;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8WXG8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96K37-1", "uniprot_id": "S35E1_HUMAN", "mass": 44773.0, "length": 410, "protein_name": "Solute carrier family 35 member E1", "gene_name": "SLC35E1", "organism": "Human", "refseq_name": "solute carrier family 35 member E1", "refseq_ac": "NP_079157", "gene_names_uniprotkb": "SLC35E1; PSEC0038", "gene_names_refseq": "SLC35E1", "protein_names_uniprotkb": "Solute carrier family 35 member E1", "protein_names_refseq": "solute carrier family 35 member E1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79939)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "11237011;16303743;18669648;23481700;24715725;25505266;25576301;25645385;25892735;26154972;26811146;26992070;27600516;27846572;28228285;28446606;28649982;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29493099;29557506;29632711;29769354;30315122;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31844290;32157095;32161166;32387766;32488085;32938616;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34087483;34171305;34357683;34509645;34932366;35051231;35318648;35475666;35580925;36010968;36215666;36241641;36284347;37938771", "class_list": "", "function": "Putative transporter., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Role of the Orphan Transporter SLC35E1 in the Nuclear Egress of Herpes Simplex Virus 1., [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": "Q8NBQ2;Q96JV7", "ec_number_list": "", "go_molecular_function": "GO:0015297 antiporter activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0055085 transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q96K37-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43623-1", "uniprot_id": "SNAI2_HUMAN", "mass": 29986.0, "length": 268, "protein_name": "Zinc finger protein SNAI2", "gene_name": "SNAI2", "organism": "Human", "refseq_name": "zinc finger protein SNAI2", "refseq_ac": "NP_003059", "gene_names_uniprotkb": "SNAI2; SLUGH; SLUG", "gene_names_refseq": "SLUGH1; SLUGH; SLUG; SNAI2; SNAIL2; WS2D", "protein_names_uniprotkb": "Zinc finger protein SNAI2; Neural crest transcription factor Slug; Protein snail homolog 2", "protein_names_refseq": "neural crest transcription factor SLUG; protein snail homolog 2; slug (chicken homolog), zinc finger protein; snail family zinc finger 2; zinc finger protein SNAI2", "tax_id": 9606, "disease": "obsolete Waardenburg syndrome type 2D (Disease Ontology:DOID:0110952); carcinoma (Disease Ontology:DOID:305); piebaldism (Disease Ontology:DOID:3263); central nervous system cancer (Disease Ontology:DOID:3620); Waardenburg syndrome (Disease Ontology:DOID:9258)", "pathway": " (hsa:6591); (R-HSA-8943724); (R-HSA-9764725); (R-HSA-9856649)", "pathway_count": 4, "publication_count": 128, "publication_id_list": "10479723;10567402;10611221;10655586;10655587;10673502;10866665;11027551;11237011;11378386;11545734;11781575;11840323;11891324;11912130;11930005;11959846;12444107;12700765;12955764;14975237;15118077;15226305;15507434;15542832;15734731;16014379;16034366;16418168;16676006;16702404;16707493;16822840;1698554;17130829;1748288;17623675;17873065;17974977;18172008;18391013;18487508;18644867;19386897;19440552;19524539;19608861;19756381;19884659;20233713;20418909;20460180;20516213;20871592;21182836;21289308;21486943;21965087;22128185;22158034;22567133;22647378;22727060;22869377;23159739;23190890;23207919;23287862;23466526;24718924;25248477;25576301;25595898;25728608;25728771;25827072;25855378;25893292;26212009;26910647;26992070;27128622;27600516;27846572;28394346;29295999;29557506;29729076;29786170;29849120;29910125;30429286;30804224;30898548;31848261;32157095;32488085;32636443;32938616;33592498;33608512;33744299;34140478;35008676;35051231;35138000;35292107;35580925;35851744;35859006;36284347;37770430;38702792;38835117;39109165;39390614;39392037;5338216;7958932;8336698;9199364;9353119;9440696;9560246;9676189;9721220;9760192;9973413", "class_list": "", "function": "Cisplatin-resistant germ cell tumor models: An exploration of the epithelial-mesenchymal transition regulator SLUG., [RefSeq, PubMed]; Homeobox B9 promotes the invasion and metastasis of hepatocellular carcinoma cells via the EZH2-MIR203A-SNAI2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; T-plastin contributes to epithelial-mesenchymal transition in human lung cancer cells through FAK/AKT/Slug axis signaling pathway., [RefSeq, PubMed]; TGFbeta1, SNAIL2, and PAPP-A Expression in Placenta of Gestational Diabetes Mellitus Patients. Publication Status: Online-Only, [RefSeq, PubMed]; The deubiquitinase USP7 and E3 ligase TRIM21 regulate vasculogenic mimicry and malignant progression of RMS by balancing SNAI2 homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional repressor that modulates both activator-dependent and basal transcription. Involved in the generation and migration of neural crest cells. Plays a role in mediating RAF1-induced transcriptional repression of the TJ protein, occludin (OCLN) and subsequent oncogenic transformation of epithelial cells (By similarity). Represses BRCA2 expression by binding to its E2-box-containing silencer and recruiting CTBP1 and HDAC1 in breast cells. In epidermal keratinocytes, binds to the E-box in ITGA3 promoter and represses its transcription. Involved in the regulation of ITGB1 and ITGB4 expression and cell adhesion and proliferation in epidermal keratinocytes. Binds to E-box2 domain of BSG and activates its expression during TGFB1-induced epithelial-mesenchymal transition (EMT) in hepatocytes. Represses E-Cadherin/CDH1 transcription via E-box elements. Involved in osteoblast maturation. Binds to RUNX2 and SOC9 promoters and may act as a positive and negative transcription regulator, respectively, in osteoblasts. Binds to CXCL12 promoter via E-box regions in mesenchymal stem cells and osteoblasts. Plays an essential role in TWIST1-induced EMT and its ability to promote invasion and metastasis., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 11, "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": "B2R6P6;Q53FC1", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA 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:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0060429 epithelium development;GO:0010957 negative regulation of vitamin D biosynthetic process;GO:0070563 negative regulation of vitamin D receptor signaling pathway;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "O43623-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35251-1", "uniprot_id": "RFC1_HUMAN", "mass": 128255.0, "length": 1148, "protein_name": "Replication factor C subunit 1", "gene_name": "RFC1", "organism": "Human", "refseq_name": "replication factor C subunit 1 isoform 2", "refseq_ac": "NP_001191676", "gene_names_uniprotkb": "RFC1; RFC140", "gene_names_refseq": "A1; CANVAS; MHCBFB; PO-GA; RECC1; RFC140; RFC1; RFC", "protein_names_uniprotkb": "Replication factor C subunit 1; A1 140 kDa subunit; Activator 1 140 kDa subunit; Activator 1 large subunit; Activator 1 subunit 1; DNA-binding protein PO-GA; RF-C 140 kDa subunit; RFC140; Replication factor C 140 kDa subunit; Replication factor C large subunit", "protein_names_refseq": "A1 140 kDa subunit; DNA-binding protein PO-GA; MHC binding factor, beta; RF-C 140 kDa subunit; activator 1 140 kDa subunit; activator 1 large subunit; activator 1 subunit 1; replication factor C (activator 1) 1, 145kDa; replication factor C 140 kDa subunit; replication factor C large subunit; replication factor C subunit 1 isoform 2; replication factor C1", "tax_id": 9606, "disease": "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (Disease Ontology:DOID:0070148); congenital heart disease (Disease Ontology:DOID:1682); West Nile fever (Disease Ontology:DOID:2366)", "pathway": " (hsa:5981); (R-HSA-110312); (R-HSA-110314); (R-HSA-110320); (R-HSA-174411); (R-HSA-5651801); (R-HSA-5655862); (R-HSA-5656121); (R-HSA-5656169); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5696397); (R-HSA-5696400); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-69091)", "pathway_count": 16, "publication_count": 230, "publication_id_list": "10329413;10460157;10536157;10559261;10656791;10656792;10660610;10744741;10751307;10760286;10801132;10856253;10887153;10959839;10984059;11006276;11058110;11237011;11250913;11485998;11601988;11687589;11698410;11784855;11917024;12145297;12200445;12226657;12444249;12584190;12766176;12930902;12930972;12952891;14517266;14657033;15066120;15149598;15189446;15199127;15254543;15475561;15590680;15657443;15916957;16139798;16246722;16337601;16344468;16357261;16464020;16531995;16611994;1671046;16819516;1682322;16964243;17000769;17043239;17081983;17466625;17466626;17517887;17525332;17720710;17948053;18079701;18242152;18342608;18669648;19074197;19153606;19170759;19223468;19279666;19492058;19690332;1974050;19940136;19941829;20008555;20068231;20129063;20159558;20159559;20164194;20227374;20660785;20952260;21143968;21282463;21406692;21628590;2165567;21791603;22081108;22681887;22700975;22721435;22772988;22859295;22859296;22898188;22902628;22952233;23000965;23042605;23042607;23143872;23186163;23481700;23593430;23686288;23731732;24038470;24115439;24275569;24402227;24449906;24485656;24648516;24714562;24715725;24768535;25576301;25645385;25772364;25880248;25892735;26154972;26768311;26992070;27397612;27600516;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30410026;30429286;30524438;30926972;31230722;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34509645;34932366;35051231;35289036;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38447794;38487929;38687529;38916676;3941892;40307207;40596516;7378348;7700386;7713898;7914507;8078911;8104944;8248204;8512577;8658138;8751446;8954124;8999859;9191022;9214649;9488738;9649448;9660172;9699634;9705493;9716411;9780000;9822671;9875289", "class_list": "", "function": "Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease., [RefSeq, PubMed]; RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia., [RefSeq, PubMed]; Structural polymorphism of the nucleic acids in pentanucleotide repeats associated with the neurological disorder CANVAS., [RefSeq, PubMed]; Subunit of the replication factor C (RFC) complex which acts during elongation of primed DNA templates by DNA polymerases delta and epsilon, and is necessary for ATP-dependent loading of proliferating cell nuclear antigen (PCNA) onto primed DNA (PubMed:9488738). This subunit binds to the primer-template junction. Binds the PO-B transcription element as well as other GA rich DNA sequences. Can bind single- or double-stranded DNA., [UniProtKB, PubMed, PubMed]; This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]., [RefSeq]; [Late-Onset Cerebellar Ataxia with Neuropathy: Uncovering the Role of RFC1 Gene 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": 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": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K6E7;Q5XKF5;Q6PKU0;Q86V41;Q86V46", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0008047 enzyme activator activity;GO:0019904 protein domain specific binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0070062 extracellular exosome;GO:0031391 Elg1 RFC-like complex;GO:0005663 DNA replication factor C complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006281 DNA repair;GO:0006351 DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0007004 telomere maintenance via telomerase", "synthesized_glycan_count": 0, "hit_score": 23.4, "record_id": "P35251-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6NT16-1", "uniprot_id": "S18B1_HUMAN", "mass": 48869.0, "length": 456, "protein_name": "MFS-type transporter SLC18B1", "gene_name": "SLC18B1", "organism": "Human", "refseq_name": "MFS-type transporter SLC18B1", "refseq_ac": "NP_439896", "gene_names_uniprotkb": "SLC18B1; C6orf192", "gene_names_refseq": "C6orf192; SLC18B1; VPAT; dJ55C23.6", "protein_names_uniprotkb": "MFS-type transporter SLC18B1; Solute carrier family 18 member B1; VPAT; Vesicular polyamine transporter", "protein_names_refseq": "MFS-type transporter C6orf192; MFS-type transporter SLC18B1; solute carrier family 18, subfamily B, member 1; vesicular polyamine transporter", "tax_id": 9606, "disease": "", "pathway": " (hsa:116843)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;23186163;25355561;27862975;28832583;28834231;28904123;29242379;29557506;29786170;30315122;31844290;32157095;32357974;32502341;33298915;33912179;33981976;34357683;35051231;35580925;36215666;36241641", "class_list": "", "function": "Proton-coupled polyamine antiporter involved in the translocation of polyamines from cytosol into secretory vesicles prior to their release via exocytosis. Uses the electrochemical proton gradient generated by a V-type proton-pumping ATPase to couple the efflux of protons with the uptake of a polyamine molecule (PubMed:25355561). Facilitates vesicular storage of spermine and spermidine in astrocytes with an impact on glutamatergic neuronal transmission and memory formation (By similarity) (PubMed:25355561). Upon antigen stimulation, regulates polyamine accumulation and release in mast cell secretory granules, which in turn potentiates mast cell degranulation and histamine secretion (By similarity)., [UniProtKB, PubMed, UniProtKB]; This gene encodes a protein, which has high sequence similarity to rat, xenopus and zebrafish proteins. The protein function is unknown. [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": 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": "A8K1K3;B3KW77;Q6ISF2", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015311 monoamine:proton antiporter activity;GO:0015312 polyamine:proton antiporter activity", "go_cellular_component": "GO:0030667 secretory granule membrane;GO:0030672 synaptic vesicle membrane", "go_biological_process": "GO:0000296 spermine transport;GO:0051610 serotonin uptake;GO:0015848 spermidine transport;GO:0051649 establishment of localization in cell;GO:0006837 serotonin transport", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q6NT16-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P23921-1", "uniprot_id": "RIR1_HUMAN", "mass": 90070.0, "length": 792, "protein_name": "Ribonucleoside-diphosphate reductase large subunit", "gene_name": "RRM1", "organism": "Human", "refseq_name": "ribonucleoside-diphosphate reductase large subunit isoform 1", "refseq_ac": "NP_001024", "gene_names_uniprotkb": "RRM1; RR1", "gene_names_refseq": "PEOB6; R1; RIR1; RR1; RRM1", "protein_names_uniprotkb": "Ribonucleoside-diphosphate reductase large subunit; 1.17.4.1; Ribonucleoside-diphosphate reductase subunit M1; Ribonucleotide reductase large subunit", "protein_names_refseq": "ribonucleoside-diphosphate reductase large subunit isoform 1; ribonucleoside-diphosphate reductase large subunit; ribonucleoside-diphosphate reductase subunit M1; ribonucleotide reductase M1 polypeptide; ribonucleotide reductase, R1 subunit", "tax_id": 9606, "disease": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 6 (Disease Ontology:DOID:0070759); chronic progressive external ophthalmoplegia (Disease Ontology:DOID:12558); lung non-small cell carcinoma (Disease Ontology:DOID:3908)", "pathway": " (hsa:6240); (R-HSA-499943)", "pathway_count": 2, "publication_count": 182, "publication_id_list": "10215863;10453732;10618642;10716435;10799505;10884394;10899599;11237011;11277919;11278511;11517226;11796141;11912132;12615712;12972261;13211603;14729598;15116427;15630091;16112985;16179339;1627826;16373698;16376858;16408927;16756507;16820675;17320107;177353;17824959;1840662;18469;1851158;18635542;1867633;18997010;19176520;19220460;19608861;19766732;20068231;21080915;211388;211390;21336276;22424782;22645359;22847445;23186163;23401439;23416111;23481700;24366607;24714562;24715725;25237103;25418920;2542324;25469497;25576301;25645385;25810538;25880248;25892735;26024233;26154972;26375851;2656695;2668278;26929215;26992070;27397612;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28855257;28904123;29242379;29317506;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30192525;30315122;30379171;30410026;30429286;30484775;30524438;30620550;30779550;30833945;30853214;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32712628;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34353292;34357683;34405274;34509645;34561969;34921012;34932366;35051231;35154160;35251023;35318648;35561310;35580925;35617047;36010968;36215666;36241641;36284347;36581221;36866763;37938771;38040978;38665916;39894887;40615;5484814;6182143;6248551;7685356;7851394;8188248;8448179;8663313;9488696;9677297;9933563", "class_list": "", "function": "Prognostic value of RRM1 and its effect on chemoresistance in pancreatic cancer., [RefSeq, PubMed]; Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides., [UniProtKB, UniProtKB, UniProtKB]; RRM1 and ERCC1 as biomarkers in patients with locally advanced and metastatic malignant pleural mesothelioma treated with continuous infusion of low-dose gemcitabine plus cisplatin. Publication Status: Online-Only, [RefSeq, PubMed]; RRM1 biomarkers may represent a major step toward biology-based prescription of cytotoxic compounds for lung neoplasms. Review article, [RefSeq, PubMed]; RRM1 is mediated by histone acetylation through gemcitabine resistance and contributes to invasiveness and ECM remodeling in pancreatic cancer., [RefSeq, PubMed]; Targeting Ribonucleotide Reductase Induces Synthetic Lethality in PP2A-Deficient Uterine Serous Carcinoma., [RefSeq, PubMed]; This gene encodes the large and catalytic subunit of ribonucleotide reductase, an enzyme essential for the conversion of ribonucleotides into deoxyribonucleotides. A pool of available deoxyribonucleotides is important for DNA replication during S phase of the cell cycle as well as multiple DNA repair processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [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": 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": 3, "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": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q9UNN2", "ec_number_list": "1.17.4.1", "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0097718 disordered domain specific binding;GO:0004748 ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor;GO:0061731 ribonucleoside-diphosphate reductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005971 ribonucleoside-diphosphate reductase complex", "go_biological_process": "GO:0006281 DNA repair;GO:0010971 positive regulation of G2/M transition of mitotic cell cycle;GO:0051290 protein heterotetramerization;GO:1900087 positive regulation of G1/S transition of mitotic cell cycle;GO:0009263 deoxyribonucleotide biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 19.0, "record_id": "P23921-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TDU9-1", "uniprot_id": "RL3R2_HUMAN", "mass": 41141.0, "length": 374, "protein_name": "Relaxin-3 receptor 2", "gene_name": "RXFP4", "organism": "Human", "refseq_name": "relaxin-3 receptor 2", "refseq_ac": "NP_871001", "gene_names_uniprotkb": "RXFP4; GPCR142; GPR100; RLN3R2", "gene_names_refseq": "GPCR142; GPR100; RLN3R2; RXFP4; RXFPR4", "protein_names_uniprotkb": "Relaxin-3 receptor 2; G protein-coupled receptor 100; G protein-coupled receptor GPCR142; Insulin-like peptide INSL5 receptor; RLN3 receptor 2; Relaxin family peptide receptor 4", "protein_names_refseq": "G protein-coupled receptor 100; G-protein coupled receptor GPCR142; RLN3 receptor 2; insulin-like peptide INSL5 receptor; relaxin family peptide receptor 4; relaxin-3 receptor 2; relaxin/insulin like family peptide receptor 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:339403); (R-HSA-418594); (R-HSA-444821)", "pathway_count": 3, "publication_count": 25, "publication_id_list": "11007482;12044878;12120503;12506116;14522967;14522968;14530218;14623098;15525639;15951850;16634148;16923326;18434541;18577758;2534964;2748346;2834384;28986276;30684458;35051231;35596811;36717591;7937899;8015379;8406495", "class_list": "", "function": "Expression of the relaxin family peptide 4 receptor by enterochromaffin cells of the mouse large intestine., [RefSeq, PubMed]; GPR100 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]., [RefSeq]; High affinity receptor for INSL5. Also acts as a receptor for RLN3/relaxin-3, as well as bradykinin and kallidin. Binding of the ligand inhibit cAMP accumulation., [UniProtKB, PubMed, PubMed]; Ligand recognition mechanism of the human relaxin family peptide receptor 4 (RXFP4). Publication Status: Online-Only, [RefSeq, PubMed]; Present work shed new light on the interaction mechanism of RXFP3 and RXFP4 with agonists and antagonists, and also provided a novel approach for interaction studies of some plasma membrane receptors with their ligands., [RefSeq, PubMed]; Relaxin-3/INSL7 is a ligand for GPCR142 [GPCR142], [RefSeq, PubMed]; The results confirmed the presence of RXFP4 in human spermatozoa, which localized in the neck and midpiece of sperm., [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": 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": "B0M0L4;Q3MJB1;Q8NGZ8", "ec_number_list": "", "go_molecular_function": "GO:0004966 galanin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007218 neuropeptide signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8TDU9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96E39-1", "uniprot_id": "RMXL1_HUMAN", "mass": 42142.0, "length": 390, "protein_name": "RNA binding motif protein, X-linked-like-1", "gene_name": "RBMXL1", "organism": "Human", "refseq_name": "RNA binding motif protein, X-linked-like-1", "refseq_ac": "NP_001156008", "gene_names_uniprotkb": "RBMXL1", "gene_names_refseq": "RBM1; RBMXL1", "protein_names_uniprotkb": "RNA binding motif protein, X-linked-like-1; Heterogeneous nuclear ribonucleoprotein G-like 1", "protein_names_refseq": "RNA binding motif protein, X-linked like 1; RNA binding motif protein, X-linked-like-1; heterogeneous nuclear ribonucleoprotein G-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:494115)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;16201836;16964243;17081983;18452278;18491316;18669648;20068231;21406692;23301498;24275569;24714562;25218447;25810538;29557506;30444036;34019948;34458856;35051231;37217939;37938771", "class_list": "", "function": "RNA-binding protein which may be involved in pre-mRNA splicing., [UniProtKB]; This gene represents a retrogene of RNA binding motif protein, X-linked (RBMX), which is located on chromosome X. While all introns in the coding sequence have been processed out compared to the RBMX locus, the ORF is intact and there is specific evidence for transcription at this location. The preservation of the ORF by purifying selection in all Old World monkeys carrying it suggests that this locus is likely to be functional, possibly during male meiosis when X chromosomal genes are silenced or during haploid stages of spermatogenesis. This gene shares 5' exon structure with the cysteine conjugate-beta lyase 2 locus on chromosome 1, but the coding sequences are non-overlapping. Alternative splicing results in two transcript variants. [provided by RefSeq, Jun 2009]., [RefSeq]; Transcriptional control of CBX5 by the RNA binding proteins RBMX and RBMXL1 maintains chromatin state in 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": 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": 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:0003729 mRNA binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005681 spliceosomal complex;GO:0043226 organelle", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q96E39-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5TA31-1", "uniprot_id": "RN187_HUMAN", "mass": 26190.0, "length": 235, "protein_name": "E3 ubiquitin-protein ligase RNF187", "gene_name": "RNF187", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF187", "refseq_ac": "NP_001010858", "gene_names_uniprotkb": "RNF187", "gene_names_refseq": "RACO-1; RACO1; RNF187", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF187; 2.3.2.27; RACO-1; RING domain AP1 coactivator 1; RING finger protein 187; RING-type E3 ubiquitin transferase RNF187", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF187; RING domain AP1 coactivator 1; RING-type E3 ubiquitin transferase RNF187; protein RNF187; ring domain AP-1 co-activator 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:149603)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;20852630;23624934;24715725;25576301;25645385;25851810;26154972;26992070;27862975;27920218;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29786170;30429286;30624778;31154438;31844290;31848261;32057463;32157095;32387766;32488085;32502341;32896069;32897882;32938616;32983136;33141586;33298915;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34561969;35051231;35165289;35318648;35580925;38167828", "class_list": "", "function": "Arginine methylation of RACO-1 is required for efficient transcriptional activation by c-Jun/AP-1 and thus identify PRMT1 as an important regulator of c-Jun/AP-1 function., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that acts as a coactivator of JUN-mediated gene activation in response to growth factor signaling via the MAP3K1 pathway, independently from MAPK8., [UniProtKB, PubMed]; Elevated RNF187 expression promotes NSCLC development by inducing cell EMT and apoptosis resistance, and RNF187 may be a novel prognostic indicator for NSCLC patients after curative resection, [RefSeq, PubMed]; Immune infiltration is associated with pan-cancer prognostic biomarker RING finger protein 187., [RefSeq, PubMed]; RACO-1 modulates Hippo signalling in oesophageal squamous cell carcinoma., [RefSeq, PubMed]; RING finger protein 187 as a novel potential biomarker for predicting the prognosis of ovarian carcinoma in 2 cancer centers., [RefSeq, PubMed]; Regulation of P53 signaling in breast cancer by the E3 ubiquitin ligase RNF187. Publication Status: Online-Only, [RefSeq, PubMed]; The RACO-1(RING domain AP-1 co-activator-1) is a co-activator that links c-Jun to growth factor signalling and is essential for AP-1 function in 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 8, "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": "A6NL57;Q6P2J7;Q6PJR0", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045893 positive regulation of DNA-templated transcription;GO:0051865 protein autoubiquitination;GO:0070936 protein K48-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q5TA31-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2M1Z3-1", "uniprot_id": "RHG31_HUMAN", "mass": 156985.0, "length": 1444, "protein_name": "Rho GTPase-activating protein 31", "gene_name": "ARHGAP31", "organism": "Human", "refseq_name": "rho GTPase-activating protein 31", "refseq_ac": "NP_065805", "gene_names_uniprotkb": "ARHGAP31; CDGAP; KIAA1204", "gene_names_refseq": "AOS1; AOS; ARHGAP31; CDGAP", "protein_names_uniprotkb": "Rho GTPase-activating protein 31; Cdc42 GTPase-activating protein", "protein_names_refseq": "Cdc42 GTPase-activating protein; rho GTPase-activating protein 31", "tax_id": 9606, "disease": "Adams-Oliver syndrome (Disease Ontology:DOID:0060227); coronary artery disease (Disease Ontology:DOID:3393)", "pathway": " (hsa:57514); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013420)", "pathway_count": 5, "publication_count": 369, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10724160;10873388;10873802;10958683;11007481;11058585;11085924;11120772;11149925;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11459829;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11961559;12071859;12093360;12096337;12172552;12192056;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;15350535;15485661;15507211;15556869;15579468;15601624;15611138;15728722;15850391;15858067;15866170;15897194;16002401;16024771;16112081;16116428;16184169;16217026;16243036;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16968698;17064668;17077126;17145773;17158447;17196961;17214551;17244649;17504809;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18786931;18829452;18835169;18838382;18929667;19064640;19269969;19494238;19605563;19635168;19673492;19713215;19934221;20030946;20101212;20400958;20460433;20547754;20591975;20628200;20660154;20679435;20810653;21148482;21351730;21454492;21508312;21542010;21565175;21565291;21613211;21685891;21699497;21730051;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22673745;22734669;22911862;22970203;22992742;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24584464;24668619;24715725;24859002;24933155;24960694;24996924;25024229;25211221;25418920;25428919;25469497;25645385;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26371245;26529257;26598554;26598620;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27600516;27713499;27798618;27806292;27846572;27862975;27869121;27920218;27986909;28028151;28063628;28112683;28114311;28135249;28196833;28218747;28228285;28514659;28584191;28825699;28832583;28860633;28904123;29089502;29146911;29242379;29358323;29382922;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30061681;30410026;30429286;30620550;30853411;31105010;31844290;31871319;32157095;32203420;32265295;32350084;32357974;32387766;32488085;32502341;32737221;32938616;32983136;33141586;33298915;33633747;33912179;33968037;34211107;35051231;35580925;36010968;38790165;40307207;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;9438849;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9792683;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "A four-generation pedigree with isolated terminal limb defects and a truncating mutation in ARHGAP31 underscores the relevance of sequencing ARHGAP31 in cases of isolated limb defects, irrespective of presence of a complete Adams-Oliver syndrome phenotype, [RefSeq, PubMed]; Characterization of a New Variant in ARHGAP31 Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading, polarized lamellipodia formation and cell migration., [UniProtKB, PubMed, PubMed]; Study demonstrate that CdGAP acts as a novel co-transcriptional repressor with Zeb2 to suppress E-cadherin expression in breast cancer cells., [RefSeq, PubMed]; This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [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": 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": 17, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 45, "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": "Q9ULL6", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0017124 SH3 domain binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0030027 lamellipodium", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0007264 small GTPase-mediated signal transduction;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 37.3, "record_id": "Q2M1Z3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P04843-1", "uniprot_id": "RPN1_HUMAN", "mass": 68569.0, "length": 607, "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1", "gene_name": "RPN1", "organism": "Human", "refseq_name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 precursor", "refseq_ac": "NP_002941", "gene_names_uniprotkb": "RPN1", "gene_names_refseq": "OST1; RBPH1; RPN1", "protein_names_uniprotkb": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1; Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 67 kDa subunit; RPN-I; Ribophorin I; Ribophorin-1", "protein_names_refseq": "RPN-I; dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 precursor; dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1; dolichyl-diphosphooligosaccharide-protein glycosyltransferase 67 kDa subunit; oligosaccharyltransferase 1 homolog; oligosaccharyltransferase complex subunit (non-catalytic); ribophorin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:6184); (R-HSA-1799339); (R-HSA-446203); (R-HSA-9694548); (R-HSA-9768727); (R-HSA-9918432); (R-HSA-9931295)", "pathway_count": 7, "publication_count": 175, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10228156;11237011;11470266;11964406;12089159;12171918;12643545;12678917;12853463;12887896;12893276;14514716;14688233;16317064;16469117;17081065;17261850;18166647;18455985;18491227;19159218;19608861;19835842;20068231;20444697;20798515;22375065;22424782;22915798;23301498;23481700;23584533;23606741;24029068;24112972;24190977;24337577;24366607;24681004;24715725;24966173;25114211;25135935;25418920;25576301;25645385;25813380;25880248;25892735;26154972;26208004;26375851;26416966;26768311;26992070;27090790;27255086;27383988;27572267;27846572;27862975;28228593;2834401;28467828;28512129;28904123;29351928;29437277;29493099;29557506;29741879;29765039;30118680;30315122;3034581;30397120;30410026;30429286;30444036;30484775;30779550;30833945;31020640;31154438;31217245;31222486;31305264;31530632;31611695;31831667;31844290;31848261;31937595;31998317;32119511;32157095;32160526;32161166;32350084;32357974;32363391;32366695;32387766;32488085;32502341;32518941;32676595;32870666;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33310888;33392160;33465208;33537174;33592498;33617881;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34117209;34171305;34211107;34357683;34428449;34509645;34528721;34561969;34599882;34725712;34932366;34961524;35051231;35083852;35154160;35215835;35251023;35289036;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36719382;37074911;37217939;37340703;37938771;38665916;38793607;39531497;39534244;39567208;40596516;40914422;41018975;6156677;7072193;7982500;7986008;9631292", "class_list": "glycogene", "function": "Polyubiquitin and ubiquitin-like signals share common recognition sites on proteasomal subunit Rpn1., [RefSeq, PubMed]; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein forms part of the regulatory subunit of the 26S proteasome and may mediate binding of ubiquitin-like domains to this proteasome. [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": 2, "reported_o_glycosites_with_glycan": 13, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 13, "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": 4, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 655, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 23, "disease_count": 0, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "B2R5Z0;D3DNB6;Q68DT1", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005791 rough endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006487 protein N-linked glycosylation;GO:0009101 glycoprotein biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "P04843-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07998-1", "uniprot_id": "RNAS1_HUMAN", "mass": 17644.0, "length": 156, "protein_name": "Ribonuclease pancreatic", "gene_name": "RNASE1", "organism": "Human", "refseq_name": "ribonuclease pancreatic precursor", "refseq_ac": "NP_002924", "gene_names_uniprotkb": "RNASE1; RIB1; RNS1", "gene_names_refseq": "RAC1; RIB1; RNASE1; RNS1", "protein_names_uniprotkb": "Ribonuclease pancreatic; 4.6.1.18; HP-RNase; RIB-1; RNase 1; RNase A; RNase UpI-1; Ribonuclease 1; Ribonuclease A", "protein_names_refseq": "HP-RNase; RIB-1; RNase 1; RNase A; RNase upI-1; ribonuclease 1; ribonuclease A C1; ribonuclease pancreatic precursor; ribonuclease, RNase A family, 1 (pancreatic)", "tax_id": 9606, "disease": "", "pathway": " (hsa:6035); (R-HSA-9613829); (R-HSA-9615710); (R-HSA-9925561)", "pathway_count": 4, "publication_count": 51, "publication_id_list": "11021969;11082038;11237011;11264578;11591351;1587793;16751256;17350650;1741299;17586772;18644871;2049798;20797626;21238931;21282471;2204156;23090970;2383019;24190977;25961502;26118642;26758079;27600516;2799391;28228285;29391424;29557506;29626215;30315122;30429286;31154438;31844290;3202829;32350084;32609822;32983136;33123756;33986289;34171305;34211107;35051231;35251023;35580925;6201087;7649283;8049276;8280059;8588814;8662539;9038169;9151685", "class_list": "", "function": "Endonuclease that catalyzes the cleavage of RNA on the 3' side of pyrimidine nucleotides. Acts on single-stranded and double-stranded RNA., [UniProtKB, PubMed]; Human ribonuclease 1 serves as a secretory ligand of ephrin A4 receptor and induces breast tumor initiation. Publication Status: Online-Only, [RefSeq, PubMed]; Processing by RNase 1 forms tRNA halves and distinct Y RNA fragments in the extracellular environment., [RefSeq, PubMed]; This gene encodes a member of the pancreatic-type of secretory ribonucleases, a subset of the ribonuclease A superfamily. The encoded endonuclease cleaves internal phosphodiester RNA bonds on the 3'-side of pyrimidine bases. It prefers poly(C) as a substrate and hydrolyzes 2',3'-cyclic nucleotides, with a pH optimum near 8.0. The encoded protein is monomeric and more commonly acts to degrade ds-RNA over ss-RNA. Alternative splicing occurs at this locus and four 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": 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": 6, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R589;D3DS06;Q16830;Q16869;Q1KHR2;Q6ICS5;Q9UCB4;Q9UCB5", "ec_number_list": "3.1.1.4;3.2.1.1;3.4.21.35;3.4.21.4;3.6.4.10;4.6.1.18;3.4.21.71;3.4.21.70;5.6.1.6;3.4.17.1;3.4.17.2;3.1.1.3;3.1.1.13;3.1.1.6;3.4.21.-;3.4.17.15;3.1.1.26;5.3.4.1;2.1.1.20;3.1.2.-;3.5.1.-;3.5.1.124;3.4.21.2;2.3.2.-", "go_molecular_function": "GO:0016787 hydrolase activity;GO:0003676 nucleic acid binding;GO:0004540 RNA nuclease activity;GO:0004522 ribonuclease A activity", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0005576 extracellular region", "go_biological_process": "GO:0050830 defense response to Gram-positive bacterium", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "P07998-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14907-1", "uniprot_id": "TX1B3_HUMAN", "mass": 13735.0, "length": 124, "protein_name": "Tax1-binding protein 3", "gene_name": "TAX1BP3", "organism": "Human", "refseq_name": "tax1-binding protein 3 isoform 1", "refseq_ac": "NP_055419", "gene_names_uniprotkb": "TAX1BP3; TIP1", "gene_names_refseq": "TAX1BP3; TIP-1; TIP1", "protein_names_uniprotkb": "Tax1-binding protein 3; Glutaminase-interacting protein 3; TIP-1; Tax interaction protein 1; Tax-interacting protein 1", "protein_names_refseq": "Tax interaction protein 1; Tax1 (human T-cell leukemia virus type I) binding protein 3; glutaminase-interacting protein 3; tax-interacting protein 1; tax1-binding protein 3 isoform 1; tax1-binding protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:30851); (R-HSA-5666185)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10591629;10673275;10873388;10940294;11163757;11237011;12221077;12473120;12874278;15767687;16855024;16979770;18669648;19635485;19685007;20068231;21139582;21417405;21787750;22223895;23186163;23563176;25645515;28832583;28904123;29242379;29393594;29557506;29789417;30429286;31844290;31848261;32157095;33592498;33968037;34561969;35254053;35580925;36010968;36284347;40596516;8571126;8662891;9482110", "class_list": "", "function": "ARHGEF7, a guanine nucleotide exchange factor for Rho GTPases, as one novel TIP-1-interacting protein in human glioblastoma cells, [RefSeq, PubMed]; May regulate a number of protein-protein interactions by competing for PDZ domain binding sites. Binds CTNNB1 and may thereby act as an inhibitor of the Wnt signaling pathway. Competes with LIN7A for KCNJ4 binding, and thereby promotes KCNJ4 internalization. May play a role in the Rho signaling pathway. May play a role in activation of CDC42 by the viral protein HPV16 E6., [UniProtKB, PubMed, PubMed, PubMed]; Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia, [RefSeq, PubMed]; TIP-1 may represent a novel regulatory element in the Wnt/beta-catenin signaling pathway, [RefSeq, PubMed]; This gene encodes a small, highly conserved protein with a single PDZ domain. PDZ (PSD-95/Discs large/ZO-1 homologous) domains promote protein-protein interactions that affect cell signaling, adhesion, protein scaffolding, and receptor and ion transporter functions. The encoded protein interacts with a large number of target proteins that play roles in signaling pathways; for example, it interacts with Rho A and glutaminase L and also acts as a negative regulator of the Wnt/beta-catenin signaling pathway. This protein was first identified as binding to the T-cell leukaemia virus (HTLV1) Tax oncoprotein. Overexpression of this gene has been implicated in altered cancer cell adhesion, migration and metastasis. The encoded protein also modulates the localization and density of inwardly rectifying potassium channel 2.3 (Kir2.3). To date, this protein has been shown to play a role in cell proliferation, development, stress response, and polarization. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [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": 3, "reported_mutagensis": 2, "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": "B2RD53;D3DTJ6;Q7LCQ4", "ec_number_list": "", "go_molecular_function": "GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0001650 fibrillar center", "go_biological_process": "GO:0007266 Rho protein signal transduction;GO:0032489 regulation of Cdc42 protein signal transduction;GO:0016055 Wnt signaling pathway;GO:0030178 negative regulation of Wnt signaling pathway;GO:2000009 negative regulation of protein localization to cell surface", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "O14907-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96MX6-1", "uniprot_id": "DAA10_HUMAN", "mass": 39740.0, "length": 357, "protein_name": "Dynein axonemal assembly factor 10", "gene_name": "DNAAF10", "organism": "Human", "refseq_name": "dynein axonemal assembly factor 10 isoform 2", "refseq_ac": "NP_001243405", "gene_names_uniprotkb": "DNAAF10; WDR92", "gene_names_refseq": "DNAAF10; WDR92", "protein_names_uniprotkb": "Dynein axonemal assembly factor 10; WD repeat-containing protein 92; WD repeat-containing protein Monad", "protein_names_refseq": "WD repeat domain 92; WD repeat-containing protein 92; WD repeat-containing protein Monad; dynein axonemal assembly factor 10 isoform 2; monad; testicular secretory protein Li 67", "tax_id": 9606, "disease": "", "pathway": " (hsa:116143)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;16487927;19450687;21078300;21468892;25576301;26154972;27600516;27920218;28218747;28832583;29242379;29437277;29557506;30315122;30429286;31217245;31738558;31844290;32157095;32387766;32938616;33592498;33717175;33968037;34171305;35051231;35580925;36284347", "class_list": "", "function": "Is part of an RNA polymerase II-associated complex with possible chaperone activity., [RefSeq, PubMed]; Key assembly factor specifically required for the stability of axonemal dynein heavy chains in cytoplasm., [UniProtKB, UniProtKB]; Monad may function as a novel modulator of apoptosis pathway. GeneRIF: Monad could be involved in apoptosis induced by TNF-alpha, [RefSeq, PubMed]; This gene encodes a protein with two WD40 repeat domains thought to be involved in an apoptosis via activation of caspase-3. Multiple transcript variants encoding different isoforms have been found for this gene. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q96CR6", "ec_number_list": "", "go_molecular_function": "GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0120293 dynein axonemal particle", "go_biological_process": "GO:0006915 apoptotic process;GO:0050821 protein stabilization;GO:0070286 axonemal dynein complex assembly", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q96MX6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P50452-1", "uniprot_id": "SPB8_HUMAN", "mass": 42767.0, "length": 374, "protein_name": "Serpin B8", "gene_name": "SERPINB8", "organism": "Human", "refseq_name": "serpin B8 isoform b", "refseq_ac": "NP_001027018", "gene_names_uniprotkb": "SERPINB8; PI8", "gene_names_refseq": "C18orf53; CAP2; PI-8; PI8; PSS5; SERPINB8", "protein_names_uniprotkb": "Serpin B8; CAP-2; CAP2; Cytoplasmic antiproteinase 2; PI-8; Peptidase inhibitor 8", "protein_names_refseq": "cytoplasmic antiproteinase 2; peptidase inhibitor 8; protease inhibitor 8 (ovalbumin type); serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8; serpin B8 isoform b; serpin B8; serpin peptidase inhibitor, clade B (ovalbumin), member 8", "tax_id": 9606, "disease": "peeling skin syndrome 5 (Disease Ontology:DOID:0070524)", "pathway": " (hsa:5271); (R-HSA-75205)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "11237011;12007600;134998;17666018;1829461;1846368;2156852;2166055;2318848;23193360;23481700;23483454;2440681;24900876;2496749;2503541;2521625;2544876;25576301;25645385;25880248;25892735;26375851;26811146;27476651;27600516;27846572;27862975;28218747;28832583;28904123;29242379;29331515;2935528;29493099;29508533;29557506;2962641;29632711;29789417;3011081;3023326;30315122;30429286;30779550;30833945;3090045;31154438;31222486;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33123756;33298915;33392160;33592498;33717175;33912179;33968037;33981976;34078123;34087483;34171305;34509645;34932366;35051231;35318648;35494241;35580925;36010968;36134483;36284347;37272794;6433976;6448849;7199524;8530382;9414276;9886297", "class_list": "", "function": "Has an important role in epithelial desmosome-mediated cell-cell adhesion., [UniProtKB, PubMed]; Inhibition of Infectious HIV-1 Production by Rerouting the Cellular Furin Inhibitor Serpin B8., [RefSeq, PubMed]; SERPINB8 and furin regulate ITGAX expression and affect the proliferation and invasion of melanoma cells., [RefSeq, PubMed]; The protein encoded by this gene is a member of the ov-serpin family of serine protease inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of furin, a serine protease involved in platelet functions. In addition, this protein has been found to enhance the mechanical stability of cell-cell adhesion in the skin, and defects in this gene have been associated with an autosomal-recessive form of exfoliative ichthyosis. [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": 0, "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": "B4DTW2;Q7Z2V6;Q8N178", "ec_number_list": "", "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0010951 negative regulation of endopeptidase activity;GO:0090136 epithelial cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "P50452-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60880-1", "uniprot_id": "SNP25_HUMAN", "mass": 23315.0, "length": 206, "protein_name": "Synaptosomal-associated protein 25", "gene_name": "SNAP25", "organism": "Human", "refseq_name": "synaptosomal-associated protein 25 isoform SNAP25A", "refseq_ac": "NP_001309831", "gene_names_uniprotkb": "SNAP25; SNAP", "gene_names_refseq": "CMS18; DEE117; RIC-4; RIC4; SEC9; SNAP-25; SNAP25; SNAP; SUP; bA416N4.2; dJ1068F16.2", "protein_names_uniprotkb": "Synaptosomal-associated protein 25; SNAP-25; SUP; Super protein; Synaptosomal-associated 25 kDa protein", "protein_names_refseq": "resistance to inhibitors of cholinesterase 4 homolog; synaptosomal-associated protein 25 isoform SNAP25A; synaptosomal-associated protein, 25kDa; synaptosome associated protein 25kDa", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 117 (Disease Ontology:DOID:0110683); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); Down syndrome (Disease Ontology:DOID:14250); epilepsy (Disease Ontology:DOID:1826); schizophrenia (Disease Ontology:DOID:5419); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:6616); (R-HSA-181429); (R-HSA-181430); (R-HSA-210500); (R-HSA-212676); (R-HSA-264642); (R-HSA-422356); (R-HSA-449836); (R-HSA-5250968); (R-HSA-5250971); (R-HSA-5250992); (R-HSA-6798695); (R-HSA-888590); (R-HSA-9662360)", "pathway_count": 14, "publication_count": 174, "publication_id_list": "10025409;10194514;10206966;10342826;10395686;10424882;10438516;10440375;10526167;10620514;10773014;10866047;10868950;11001057;11015561;11017172;11027560;11068039;11078440;11078469;11163272;11237011;11242046;11264248;11577798;11716850;11756489;11780755;11815450;11815460;11815462;11815463;11832227;11873862;12196472;12403834;12459461;12459720;12469119;12475777;12519779;12558796;12684222;12750892;12764427;12887316;1309948;1339386;13459201;14514350;14529723;14766180;15000528;15217342;15305887;15504896;15572341;15585596;15592454;15678092;15935055;16116111;16332676;16443778;16488976;16492764;16513675;16543415;16556766;16616430;16714477;16722236;16868246;17021801;17259518;17301226;17325194;17380317;17478680;17660294;17718519;17766642;17891149;17900700;17919183;17989281;18162464;18171919;18215623;18346985;18375205;18467591;18596924;18617632;18815274;19118561;19375301;19531498;19546860;19587354;19650874;20086079;20233039;20798282;2147944;21716315;22720883;22832103;23291588;23363473;23650620;23744080;23992284;24578174;25381298;25662098;25915028;26095744;26517901;28486561;28757145;28882895;2892215;29108130;30379171;31067468;3214421;3517644;35323195;36240223;37478220;37491426;37762342;38102610;3923453;6019353;6424440;6435940;7589840;7593639;7615501;7641683;7805849;7823026;7901002;7929812;8027028;8056350;8071310;8095030;8112622;8211186;8243676;8294407;8402889;8457197;8611567;8675920;8692836;8760387;8987985;8997178;9260930;9350615;9422780;9701566;9712688;9726229;9739505;9751501;9753324;9783750;9886085;9914469", "class_list": "", "function": "Impaired ATF3 signaling involves SNAP25 in SOD1 mutant ALS patients. Publication Status: Online-Only, [RefSeq, PubMed]; Neuronal-specific TNFAIP1 ablation attenuates postoperative cognitive dysfunction via targeting SNAP25 for K48-linked ubiquitination. Publication Status: Online-Only, [RefSeq, PubMed]; Role of SNAP25 on the occurrence and development of eosinophilic gastritis., [RefSeq, PubMed]; Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; The Role of SNAP-25 in Autism Spectrum Disorders Onset Patterns. Publication Status: Online-Only, [RefSeq, PubMed]; t-SNARE involved in the molecular regulation of neurotransmitter release. May play an important role in the synaptic function of specific neuronal systems. Associates with proteins involved in vesicle docking and membrane fusion. Regulates plasma membrane recycling through its interaction with CENPF. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 in pancreatic beta cells., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; t-SNARE involved in the molecular regulation of neurotransmitter release. Plays an important role in the synaptic function of specific neuronal systems. Associates with proteins involved in vesicle docking and membrane fusion. Regulates plasma membrane recycling through its interaction with CENPF. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 in pancreatic beta cells., [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": 6, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 7, "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": "B2RAU4;D3DW16;D3DW17;P13795;P36974;P70557;P70558;Q53EM2;Q5U0B5;Q8IXK3;Q96FM2;Q9BR45", "ec_number_list": "", "go_molecular_function": "GO:0048306 calcium-dependent protein binding;GO:0008289 lipid binding;GO:0005484 SNAP receptor activity;GO:0017075 syntaxin-1 binding;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0070032 synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex;GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0050796 regulation of insulin secretion;GO:0007269 neurotransmitter secretion;GO:0006887 exocytosis;GO:0010975 regulation of neuron projection development", "synthesized_glycan_count": 0, "hit_score": 17.7, "record_id": "P60880-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75635-1", "uniprot_id": "SPB7_HUMAN", "mass": 42905.0, "length": 380, "protein_name": "Serpin B7", "gene_name": "SERPINB7", "organism": "Human", "refseq_name": "serpin B7 isoform 1", "refseq_ac": "NP_001035237", "gene_names_uniprotkb": "SERPINB7", "gene_names_refseq": "MEGSIN; PPKN; SERPINB7; TP55", "protein_names_uniprotkb": "Serpin B7; Megsin; TP55", "protein_names_refseq": "mesangium predominant gene, megsin; serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7; serpin B7 isoform 1; serpin peptidase inhibitor, clade B (ovalbumin), member 7", "tax_id": 9606, "disease": "familial encephalopathy with neuroserpin inclusion bodies (Disease Ontology:DOID:0050831); Nagashima-type palmoplantar keratosis (Disease Ontology:DOID:0070555); nephritis (Disease Ontology:DOID:10952); alpha 1-antitrypsin deficiency (Disease Ontology:DOID:13372); IgA glomerulonephritis (Disease Ontology:DOID:2986)", "pathway": " (hsa:8710)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;12397041;20068231;23090970;24190977;24207119;29242379;30397120;30833945;32157095;32938616;32983136;34171305;35178744;35864103;36010968;36772997;37217939;37938771;38529670;9182567;9710452", "class_list": "", "function": "Might function as an inhibitor of Lys-specific proteases. Might influence the maturation of megakaryocytes via its action as a serpin., [UniProtKB]; One positive regulatory motif, an incomplete activator protein-1 binding motif (CTGATTCAC) within the -120 to -112 region. This cis-acting element in the 5'-flanking region of megsin is involved in the activation of the megsin gene in mesangial cells., [RefSeq, PubMed]; Potential digenic inheritance of SERPINB7 and SERPINA12 variants in Chinese patients with Nagashima-type palmoplantar keratosis., [RefSeq, PubMed]; SERPINB7 mutation causes Nagashima-type palmoplantar keratosis and its spatiotemporal expression in zebrafish., [RefSeq, PubMed]; SerpinB7 deficiency contributes to development of psoriasis via calcium-mediated keratinocyte differentiation dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]., [RefSeq]; Two novel mutations of SERPINB7 in eight cases of Nagashima-type palmoplantar keratosis in the Chinese population., [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": 4, "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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "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": "B4DUW8;F5GZC0;Q1ED45;Q3KPG4", "ec_number_list": "", "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "GO:0072126 positive regulation of glomerular mesangial cell proliferation;GO:0032914 positive regulation of transforming growth factor beta1 production;GO:0032967 positive regulation of collagen biosynthetic process;GO:0090362 positive regulation of platelet-derived growth factor production", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "O75635-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P84101-1", "uniprot_id": "SERF2_HUMAN", "mass": 6900.0, "length": 59, "protein_name": "Small EDRK-rich factor 2", "gene_name": "SERF2", "organism": "Human", "refseq_name": "small EDRK-rich factor 2 isoform c", "refseq_ac": "NP_001018118", "gene_names_uniprotkb": "SERF2; FAM2C", "gene_names_refseq": "4F5REL; FAM2C; H4F5REL; Hero7; HsT17089; SERF2", "protein_names_uniprotkb": "Small EDRK-rich factor 2; 4F5rel; Gastric cancer-related protein VRG107; Protein 4F5-related; h4F5rel", "protein_names_refseq": "gastric cancer-related protein VRG107; protein 4F5-related; small EDRK-rich factor 2 isoform c", "tax_id": 9606, "disease": "", "pathway": " (hsa:10169)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;20112406;20723760;24714562;24715725;25576301;26154972;26728094;26992070;27600516;27846572;27862975;28063628;28832583;29242379;29393594;29493099;29508533;29557506;30291272;30429286;30833945;31154438;31844290;31848261;32157095;32897882;33592498;34617299;35580925;38466543;9731538", "class_list": "", "function": "Atomistic molecular-dynamic simulations predict spontaneous unfolding of SERF2, and computational large-scale protein-protein interactions predict its stable binding to ubiquitins. SERF2 is also predicted to bind to most proteins screened at random, although with lower average stability than to ubiquitins, suggesting roles in aggregation initiation and/or progression. Publication Status: Online-Only, [RefSeq, PubMed]; Backbone 1H, 13C, and 15N chemical shift assignments for human SERF2., [RefSeq, PubMed]; Positive regulator of amyloid protein aggregation and proteotoxicity (PubMed:20723760). Induces conformational changes in amyloid proteins, such as HTT, driving them into compact formations preceding the formation of aggregates (PubMed:20723760)., [UniProtKB, PubMed]; Positive regulator of amyloid protein aggregation and proteotoxicity. Induces conformational changes in amyloid proteins, such as HTT, driving them into compact formations preceding the formation of aggregates., [UniProtKB, UniProtKB]; The cellular modifier MOAG-4/SERF drives amyloid formation through charge complementation., [RefSeq, PubMed]; The human orthologs of MOAG-4, SERF2 and SERF1A, are ubiquitously expressed, consistent with a role in a general cellular 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": 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": "A6NL45;B5MCG1;B9A026;O75918;O88891;Q9BZH7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0031648 protein destabilization", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "P84101-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86VW1-1", "uniprot_id": "S22AG_HUMAN", "mass": 64614.0, "length": 577, "protein_name": "Solute carrier family 22 member 16", "gene_name": "SLC22A16", "organism": "Human", "refseq_name": "solute carrier family 22 member 16", "refseq_ac": "NP_149116", "gene_names_uniprotkb": "SLC22A16; OCT6", "gene_names_refseq": "CT2; FLIPT2; HEL-S-18; OAT6; OCT6; OKB1; SLC22A16; dJ261K5.1", "protein_names_uniprotkb": "Solute carrier family 22 member 16; CT2; Carnitine transporter 2; FLIPT2; Flipt 2; Fly-like putative transporter 2; Organic cation transporter OKB1; Organic cation/carnitine transporter 6", "protein_names_refseq": "WUGSC:RG331P03.1; carnitine transporter 2; epididymis secretory protein Li 18; flipt 2; fly-like putative organic ion transporter 2; fly-like putative transporter 2; organic cation transporter 6; organic cation transporter OKB1; organic cation/carnitine transporter 6; solute carrier family 22 (organic cation transporter), member 16; solute carrier family 22 (organic cation/carnitine transporter), member 16; solute carrier family 22 member 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:85413); (R-HSA-549127)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10072434;10196521;10966924;11237011;12089149;12372408;12384147;14608356;14674884;15107849;15184985;15795384;15963465;16330770;16788146;16807400;17197897;17509534;17581421;20037140;26314988;26499074;26522469;28036387;29242379;29317506;29557506;29698084;29731959;32387766;32727751;34509645;35051231;35580925;36215666;7989337;8647271;9260930;9520460;9655880;9685390;9744804", "class_list": "", "function": "Allele C of ABCB1 and allele A of SLC22A16 tended to have a greater association with grade 3/4 febrile neutropenia. Publication Status: Online-Only, [RefSeq, PubMed]; Cytotoxic assays, stable transfectants of leukemic Jurkat cells overexpressing SLC22A16 cells became significantly more sensitive to doxorubicin, [RefSeq, PubMed]; Deletions in SLC22A16, a doxorubicin transporter, are associated with a failure to achieve event free survival in immunochemotherapy-treated diffuse large B-cell lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; Facilitative organic cation transporter that mediates the transport of carnitine as well as the polyamine spermidine. Mediates the partially Na(+)-dependent bidirectional transport of carnitine. May mediate L-carnitine secretion from testis epididymal epithelium into the lumen which is involved in the maturation of spermatozoa., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Findings may greatly contribute to the elucidation of the roles of the Oct and Myc proteins in osteoblast direct reprogramming. The results may also lead to establishment of novel regenerative therapy for various bone resorption diseases, [RefSeq, PubMed]; Flipts might have a role in carnitine transport, particularly in brain, [RefSeq, PubMed]; Identification as a novel organic cation transporter preferentially expressed in hematopoietic cells and leukemias, [RefSeq, PubMed]; Identification, expression and function of human CT2 as a carnitine transporter in testis mediating transport of l-carnitine, [RefSeq, PubMed]; May be possible to use progestins to increase the response of endometrioid endometrial carcinoma with SLC22A16 expression to adriamycin-based chemotherapeutic regimens, [RefSeq, PubMed]; SLC22A16 DNA hypomethylation might be a compensation for DNA loss to maintain SLC22A16 elevation in GC. SLC22A16 might be a valuable prognostic marker in GC., [RefSeq, PubMed]; This gene encodes a member of the organic zwitterion transporter protein family which transports carnitine. The encoded protein has also been shown to transport anticancer drugs like bleomycin (PMID: 20037140) successful treatment has been correlated with the level of activity of this transporter in tumor cells. [provided by RefSeq, Dec 2011]., [RefSeq]; Variants of SLC22A16 Predict the Efficacy of Platinum Combination Chemotherapy in Advanced Non-small-cell Lung Cancer., [RefSeq, PubMed]", "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 41, "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": "O14567;Q5JXM1;Q8IUG8;Q8IZD5;Q96M90;Q96RU0", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0005275 amine transmembrane transporter activity;GO:0015226 carnitine transmembrane transporter activity;GO:0015606 spermidine transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0046717 acid secretion;GO:0015695 organic cation transport;GO:0006811 monoatomic ion transport;GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q86VW1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6H5-1", "uniprot_id": "SNCAP_HUMAN", "mass": 100409.0, "length": 919, "protein_name": "Synphilin-1", "gene_name": "SNCAIP", "organism": "Human", "refseq_name": "synphilin-1 isoform 1A", "refseq_ac": "NP_001229864", "gene_names_uniprotkb": "SNCAIP", "gene_names_refseq": "SNCAIP; SYPH1; Sph1", "protein_names_uniprotkb": "Synphilin-1; Alpha-synuclein-interacting protein; Sph1", "protein_names_refseq": "synphilin-1 isoform 1A; synphilin-1", "tax_id": 9606, "disease": "late onset Parkinson's disease (Disease Ontology:DOID:0060892); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:9627); (R-HSA-977225)", "pathway_count": 2, "publication_count": 91, "publication_id_list": "10097139;10319874;10391242;10411933;10583407;10956649;10967135;11237011;11278841;11401442;11427316;11467836;11590439;118839;12454989;1270801;12750386;12761037;14506261;14567678;15064394;15962837;16174740;16174773;16595633;16799559;17425515;18065497;18070888;18366718;1837051;18449172;18484335;1849145;19011241;19224863;19658395;19762560;19828817;20676056;20807650;2118650;2195544;22065755;22131221;23813966;2409350;24715725;24833601;24893886;25523424;25576301;26018760;26375851;26417681;26465922;26668317;26686862;26807092;27846572;279930;28832583;2900981;29331515;29557506;30316984;3035556;30379171;30429286;3053705;3080684;3094007;31154438;3142462;31844290;32157095;35051231;35494241;35580925;3675579;38700150;8033412;8097946;8114934;8159701;8464497;8490014;8870004;9006323;9054935;9862427", "class_list": "", "function": "Differential expression of synphilin-1 isoforms (and alpha-synuclein and parkin) was found in multiple system atrophy brains compared to control brain., [RefSeq, PubMed]; Exploring Structural Insights of Abeta42 and alpha-Synuclein Monomers and Heterodimer: A Comparative Study Using Implicit and Explicit Solvent Simulations., [RefSeq, PubMed]; Isoform 2 inhibits the ubiquitin ligase activity of SIAH1 and inhibits proteasomal degradation of target proteins. Isoform 2 inhibits autoubiquitination and proteasomal degradation of SIAH1, and thereby increases cellular levels of SIAH. Isoform 2 modulates SNCA monoubiquitination by SIAH1., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results indicated that synphilin-1 may play neuroprotective roles in Parkinson Disease pathogenesis by inhibiting ROS production and apoptosis., [RefSeq, PubMed]; Synphilin-1A may contribute to neuronal degeneration in alpha-synuclein mutations and provides insights into the role of inclusion bodies in neurodegenerative disorders., [RefSeq, PubMed]; This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. 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": 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": 38, "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": "D3DSZ1;Q05BS1;Q1PSC2;Q49AC6;Q504U9;Q6L984;Q6L985;Q6L986;Q9HC59", "ec_number_list": "", "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0043025 neuronal cell body;GO:0036464 cytoplasmic ribonucleoprotein granule;GO:0008021 synaptic vesicle", "go_biological_process": "GO:0046928 regulation of neurotransmitter secretion;GO:0008219 cell death;GO:0042417 dopamine metabolic process;GO:0090083 regulation of inclusion body assembly", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q9Y6H5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BXP2-1", "uniprot_id": "S12A9_HUMAN", "mass": 96110.0, "length": 914, "protein_name": "Solute carrier family 12 member 9", "gene_name": "SLC12A9", "organism": "Human", "refseq_name": "solute carrier family 12 member 9 isoform 2", "refseq_ac": "NP_001254741", "gene_names_uniprotkb": "SLC12A9; CCC6; CIP1", "gene_names_refseq": "CCC6; CIP1; SLC12A9; WO3.3; hCCC6", "protein_names_uniprotkb": "Solute carrier family 12 member 9; CCC-interacting protein 1; Cation-chloride cotransporter 6; Cation-chloride cotransporter-interacting protein 1; Potassium-chloride transporter 9; WO3.3; hCCC6; hCIP1", "protein_names_refseq": "CCC-interacting protein 1; cation-chloride cotransporter 6; cation-chloride cotransporter-interacting protein 1; potassium-chloride transporter 9; solute carrier family 12 (potassium/chloride transporters), member 9; solute carrier family 12 member 9 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:56996)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10.1101/2023.09.13.557529;10871601;11237011;11239002;20639392;23186163;23325410;24190977;25418920;25502872;25576301;25880248;27920218;28832583;28904123;29242379;29393594;29557506;29632046;29632711;30315122;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33912179;33968037;33981976;34357683;34509645;34725712;35051231;35154160;35251023;35318648;35580925;36925204;38157260;38334070;41018975", "class_list": "", "function": "Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder., [RefSeq, PubMed]; Clinical value of SLC12A9 for diagnosis and prognosis in colorectal cancer., [RefSeq, PubMed]; May be an inhibitor of SLC12A1. Seems to correspond to a subunit of a multimeric transport system and thus, additional subunits may be required for its function (PubMed:10871601). May play a role in lysosomal ion flux and osmoregulation (PubMed:38334070)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Review summarizes three human disorders that have been linked to the mutation/dysfunction of Na-Cl, Na-K-2Cl, and K-Cl cotransporters (Bartter's, Gitleman's, and Andermann's syndromes). Review article, [RefSeq, PubMed]; Upregulation of SLC12A3 and SLC12A9 Mediated by the HCP5/miR-140-5p Axis Confers Aggressiveness and Unfavorable Prognosis in Uveal Melanoma., [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B7Z740;D6W5X0;D6W5X2;F5H8C2;Q9BWL2;Q9BXP1;Q9BYI0;Q9NQR5", "ec_number_list": "", "go_molecular_function": "GO:0015379 potassium:chloride symporter activity;GO:0015377 chloride:monoatomic cation symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0006884 cell volume homeostasis;GO:1902476 chloride transmembrane transport;GO:0055075 potassium ion homeostasis;GO:0055064 chloride ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q9BXP2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BY12-1", "uniprot_id": "SCAPE_HUMAN", "mass": 158287.0, "length": 1400, "protein_name": "S phase cyclin A-associated protein in the endoplasmic reticulum", "gene_name": "SCAPER", "organism": "Human", "refseq_name": "S phase cyclin A-associated protein in the endoplasmic reticulum isoform b", "refseq_ac": "NP_001139395", "gene_names_uniprotkb": "SCAPER; KIAA1454; MSTP063; ZNF291", "gene_names_refseq": "IDDRP; MSTP063; SCAPER; ZNF291; Zfp291", "protein_names_uniprotkb": "S phase cyclin A-associated protein in the endoplasmic reticulum; S phase cyclin A-associated protein in the ER; Zinc finger protein 291", "protein_names_refseq": "S phase cyclin A-associated protein in the endoplasmic reticulum isoform b; s phase cyclin A-associated protein in the endoplasmic reticulum; zinc finger protein 291", "tax_id": 9606, "disease": "azoospermia (Disease Ontology:DOID:14227); Bardet-Biedl syndrome (Disease Ontology:DOID:1935); intellectual developmental disorder and retinitis pigmentosa; IDDRP (MONDO:MONDO:0032594)", "pathway": " (hsa:49855)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17553665;17698606;17924679;18245951;19691289;23186163;23481700;24366607;26992070;28063628;28794130;28832583;28904123;29242379;29393594;29557506;29632046;29632711;30379171;30429286;30779550;30833945;31069901;31154438;31192531;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32387766;32502341;32510560;32527956;32938616;32983136;33298915;33968037;35051231;35580925;37217939", "class_list": "", "function": "Absence of SCAPER causes male infertility in humans and Drosophila by modulating microtubule dynamics during meiosis., [RefSeq, PubMed]; An unstable [CCTG](n) repeat in the second intron of the ZNF291 gene, on chromosome 15q21-24, was identified., [RefSeq, PubMed]; By sequestering cyclin A/Cdk2, SCAPER is capable of directing the activity of this kinase complex away from the nucleus and regulating cyclin A/Cdk2 equilibrium in distinct subcellular compartments., [RefSeq, PubMed]; CCNA2/CDK2 regulatory protein that transiently maintains CCNA2 in the cytoplasm., [UniProtKB, PubMed]; Delineating the expanding phenotype associated with SCAPER gene mutation., [RefSeq, PubMed]; Homozygous variants in the gene SCAPER cause syndromic intellectual disability., [RefSeq, PubMed]; Male sterility and reduced female fertility in SCAPER-deficient mice., [RefSeq, PubMed]; Study describes the biochemically purification and identification of SCAPER, a novel protein that specifically interacts with cyclin A/Cdk2 in vivo., [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": 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": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "F5H7X8;H3BNR7;Q3B7X7;Q96BS9;Q9H3D8;Q9NT03;Q9P274", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005783 endoplasmic reticulum;GO:0016607 nuclear speck", "go_biological_process": "GO:0060041 retina development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9BY12-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6IEG0-1", "uniprot_id": "SNR48_HUMAN", "mass": 39965.0, "length": 339, "protein_name": "U11/U12 small nuclear ribonucleoprotein 48 kDa protein", "gene_name": "SNRNP48", "organism": "Human", "refseq_name": "U11/U12 small nuclear ribonucleoprotein 48 kDa protein", "refseq_ac": "NP_689764", "gene_names_uniprotkb": "SNRNP48; C6orf151", "gene_names_refseq": "C6orf151; SNRNP48; dJ336K20B.1; dJ512B11.2", "protein_names_uniprotkb": "U11/U12 small nuclear ribonucleoprotein 48 kDa protein; U11/U12 snRNP 48 kDa protein; U11/U12-48K", "protein_names_refseq": "U11-48K; U11/U12 small nuclear ribonucleoprotein 48 kDa protein; U11/U12 snRNP 48 kDa protein; U11/U12 snRNP 48K; U11/U12-48K; small nuclear ribonucleoprotein 48kDa (U11/U12); small nuclear ribonucleoprotein, U11/U12 48KDa subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:154007); (R-HSA-72165)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10207048;11237011;11333026;11607023;15146077;17940139;18347052;18703587;19052544;19217400;20068231;24715725;2524422;25576301;26992070;27510544;28228285;28649982;28904123;29242379;29632046;30315122;30379171;30484775;31217245;31844290;32897882;33298915;35318648;36215666;36241641;8835860", "class_list": "", "function": "A model in which the U11-48K Zn finger stabilizes U11-5' splice site base pairing and thus plays an important role during the minor spliceosome assembly., [RefSeq, PubMed]; Likely involved in U12-type 5' splice site recognition., [UniProtKB, PubMed]; RNA interference-induced knockdown of 48K led to reduced cell growth and the inhibition of U12-type splicing, as well as the activation of cryptic, U2-type splice sites, suggesting that 48K plays a critical role in U12-type intron recognition., [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": 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": "A8K8P4;Q14C91;Q5T339;Q5THM1;Q5THM2;Q96MK1", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;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": 3.5, "record_id": "Q6IEG0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y336-1", "uniprot_id": "SIGL9_HUMAN", "mass": 50082.0, "length": 463, "protein_name": "Sialic acid-binding Ig-like lectin 9", "gene_name": "SIGLEC9", "organism": "Human", "refseq_name": "sialic acid-binding Ig-like lectin 9 isoform 1 precursor", "refseq_ac": "NP_001185487", "gene_names_uniprotkb": "SIGLEC9; PRO1302", "gene_names_refseq": "CD329; CDw329; FOAP-9; OBBP-LIKE; SIGLEC9; siglec-9", "protein_names_uniprotkb": "Sialic acid-binding Ig-like lectin 9; CDw329; Protein FOAP-9; Siglec-9", "protein_names_refseq": "protein FOAP-9; sialic acid-binding Ig-like lectin 9 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:27180); (R-HSA-198933); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 111, "publication_id_list": "10.1101/2023.09.13.557529;10499918;10746781;10801860;10801862;10903842;11237011;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12975309;14693915;14702039;14719373;14970179;15034010;15057824;15136729;15155468;15187158;15292262;15304001;15489334;15534202;15541655;15557178;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23650620;23695528;23929856;24305946;24714562;24715725;25703557;25716998;26284469;26300885;29557506;29769354;31848261;32296183;32322597;32391973;32983136;33123756;33431669;34171305;35051231;35580925;36284347;37074911;37460871;37865296;38412768;38454157;7531291;7542404;8178173;8692836;8995416;9285412;9314561;9700512;9730896", "class_list": "glycogene", "function": "Binding studies on recombinant human Siglec-9 show recognition of both Neu5Ac and Neu5Gc; in striking contrast, chimpanzee and gorilla Siglec-9 strongly prefer binding Neu5Gc., [RefSeq, PubMed]; Expression of Siglec-9 in peripheral blood neutrophils was increased and associated with disease severity in patients with AECOPD., [RefSeq, PubMed]; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- or alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface., [UniProtKB]; Siglec-7 and Siglec-9 are capable of negative regulation of TCR signaling and ligand binding is required for optimal activity, [RefSeq, PubMed]; Siglec-9 acts as an immune-checkpoint molecule on macrophages in glioblastoma, restricting T-cell priming and immunotherapy response., [RefSeq, PubMed]; Siglec-9 can inhibit Fc epsilon receptor I-mediated serotonin release from rat basophilic leukemia cells and recruit the tyrosine phosphatases SHP-1 and SHP-2., [RefSeq, PubMed]; The change of Siglec-9 expression in peripheral blood NK cells of SFTS patients can affect the function of NK cells., [RefSeq, PubMed]; The receptor binding domain of SARS-CoV-2 Omicron subvariants targets Siglec-9 to decrease its immunogenicity by preventing macrophage phagocytosis., [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": 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": 1, "reported_glycation": 0, "reported_snv": 662, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q6GTU4;Q9BYI9", "ec_number_list": "", "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0033691 sialic acid binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030667 secretory granule membrane;GO:0016020 membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q9Y336-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P31641-1", "uniprot_id": "SC6A6_HUMAN", "mass": 69830.0, "length": 620, "protein_name": "Sodium- and chloride-dependent taurine transporter", "gene_name": "SLC6A6", "organism": "Human", "refseq_name": "sodium- and chloride-dependent taurine transporter isoform c", "refseq_ac": "NP_001127839", "gene_names_uniprotkb": "SLC6A6", "gene_names_refseq": "HTRDC; SLC6A6; TAUT", "protein_names_uniprotkb": "Sodium- and chloride-dependent taurine transporter; Solute carrier family 6 member 6; TauT; Taurine transporter", "protein_names_refseq": "sodium- and chloride-dependent taurine transporter isoform c; sodium- and chloride-dependent taurine transporter; solute carrier family 6 (neurotransmitter transporter, taurine), member 6", "tax_id": 9606, "disease": "retinitis pigmentosa (Disease Ontology:DOID:10584); multiple system atrophy (Disease Ontology:DOID:4752); hypotaurinemic retinal degeneration and cardiomyopathy (MONDO:MONDO:0007777)", "pathway": " (hsa:6533); (R-HSA-352230)", "pathway_count": 2, "publication_count": 108, "publication_id_list": "10.1101/2023.09.13.557529;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;19349973;19651622;21097500;22544926;22898188;23481700;24652292;24715725;25645385;26154972;26992070;27600516;27862975;28228285;28832583;28860189;28904123;29242379;29557506;29786170;30315122;30410026;30779550;31092671;31345061;31844290;31848261;31903486;31937595;31998317;32114438;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32705197;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34405274;34433824;34509645;35051231;35318648;35580925;36010968;36215666;36241641;37938771;39837997;40108165;40108449;40601627;40615403;40789850;41269860;41652173;7589472;8010975;8101838;8340364;8382624;8654117;8702519;8910405;9174363;9878049", "class_list": "", "function": "Mediates sodium- and chloride-dependent transport of taurine, a key amino acid (PubMed:31345061, PubMed:31903486, PubMed:39837997, PubMed:40108165, PubMed:40108449, PubMed:40615403, PubMed:40789850, PubMed:41269860, PubMed:41652173, PubMed:8010975, PubMed:8382624, PubMed:8654117). Taurine acts as an anti-aging agent by reducing cellular senescence and combating oxidative stress: levels decline with age and supplementation has been shown to extend lifespan (By similarity). In addition to mediate extracellular taurine uptake, also able to mediate transport of taurine into mitochondria, sustaining mitochondrial translation (PubMed:41652173). Can also mediate transport of beta-alanine, hypotaurine and gamma-aminobutyric acid (GABA) (PubMed:39837997, PubMed:40108165, PubMed:40789850, PubMed:41269860, PubMed:8010975)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Protein kinases as regulators of osmolyte accumulation under stress conditions: An overview. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Significance of taurine transporter (TauT) in homeostasis and its layers of regulation (Review). Review article, [RefSeq, PubMed]; This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [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": 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": 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": 3, "reported_mutagensis": 31, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2RNU7;Q9BRI2;Q9BXB0", "ec_number_list": "", "go_molecular_function": "GO:0005368 taurine transmembrane transporter activity;GO:0005332 gamma-aminobutyric acid:sodium:chloride symporter activity;GO:0015171 amino acid transmembrane transporter activity;GO:0005283 amino acid:sodium symporter activity;GO:0005369 taurine:sodium symporter activity", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0030425 dendrite", "go_biological_process": "GO:0032328 alanine transport;GO:0045597 positive regulation of cell differentiation;GO:0006865 amino acid transport;GO:0050804 modulation of chemical synaptic transmission;GO:0035725 sodium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "P31641-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N413-1", "uniprot_id": "S2545_HUMAN", "mass": 31906.0, "length": 288, "protein_name": "Methylated amino-acid transporter SLC25A45", "gene_name": "SLC25A45", "organism": "Human", "refseq_name": "solute carrier family 25 member 45 isoform b", "refseq_ac": "NP_001070709", "gene_names_uniprotkb": "SLC25A45", "gene_names_refseq": "SLC25A45", "protein_names_uniprotkb": "Methylated amino-acid transporter SLC25A45; Solute carrier family 25 member 45", "protein_names_refseq": "solute carrier family 25 member 45 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:283130)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;16949250;23266187;41075780;41075794", "class_list": "", "function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Mitochondrial transporter that specifically mediates the mitochondrial uptake of dimethylarginine and trimethyllysine amino acids, and which is required for carnitine biosynthesis (PubMed:41075780, PubMed:41075794). Involved in carnitine biosynthesis by mediating the mitochondrial import of trimethyllysine, a precursor for carnitine biosynthesis (PubMed:41075780, PubMed:41075794). Transports both symmetric and asymmetric dimethylarginine (PubMed:41075794). Does not transport unmethylated arginine and lysine (PubMed:41075794)., [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": "Q6PL49;Q8IW29", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0045329 carnitine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8N413-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q53EL9-1", "uniprot_id": "SEZ6_HUMAN", "mass": 107425.0, "length": 994, "protein_name": "Seizure protein 6 homolog", "gene_name": "SEZ6", "organism": "Human", "refseq_name": "seizure protein 6 homolog isoform 2 precursor", "refseq_ac": "NP_001092105", "gene_names_uniprotkb": "SEZ6", "gene_names_refseq": "BSRPC; SEZ6", "protein_names_uniprotkb": "Seizure protein 6 homolog; SEZ-6; hSEZ-6", "protein_names_refseq": "seizure protein 6 homolog isoform 2 precursor; seizure protein 6 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:124925)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10.1038/emboj.2013.79;11237011;17086543;23234360;23584533;25505266;28832583;29393594;29557506;30309378;31844290;34135477;35051231;35494241;36465614;37074911;38253038", "class_list": "", "function": "ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment., [RefSeq, PubMed]; May play a role in cell-cell recognition and in neuronal membrane signaling. Seems to be important for the achievement of the necessary balance between dendrite elongation and branching during the elaboration of a complex dendritic arbor. Involved in the development of appropriate excitatory synaptic connectivity (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Potential genetic biomarkers predict adverse pregnancy outcome during early and mid-pregnancy in women with systemic lupus erythematosus. Publication Status: Online-Only, [RefSeq, PubMed]; Study describes a targeted exome sequencing analysis of a large Italian kindred with Alzheimer disease, negative for PSEN and APP variants, that indicated the SEZ6 heterozygous mutation R615H is associated with the pathology. Publication Status: Online-Only, [RefSeq, PubMed]; The human SEZ-6 gene is related to the occurrence and development of FS and may be a novel candidate gene for epilepsy. Screening for mutations in SEZ-6 may be valuable in predicting FS recurrence or the development of epilepsy., [RefSeq, PubMed]; The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016]., [RefSeq]", "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": 1, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B6ZDN1;Q8N701;Q8NB57;Q8ND50;Q8TD25;Q96NI5;Q96NQ3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0043025 neuronal cell body;GO:0043197 dendritic spine;GO:0043198 dendritic shaft", "go_biological_process": "GO:0008344 adult locomotory behavior;GO:0021680 cerebellar Purkinje cell layer development;GO:0060074 synapse maturation;GO:0050773 regulation of dendrite development", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q53EL9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75602-1", "uniprot_id": "SPAG6_HUMAN", "mass": 55476.0, "length": 509, "protein_name": "Sperm-associated antigen 6", "gene_name": "SPAG6", "organism": "Human", "refseq_name": "sperm-associated antigen 6 isoform 3", "refseq_ac": "NP_001240783", "gene_names_uniprotkb": "SPAG6; PF16", "gene_names_refseq": "CFAP194; CT141; FAP194; Repro-SA-1; SPAG6; pf16", "protein_names_uniprotkb": "Sperm-associated antigen 6; Protein PF16 homolog; Repro-SA-1; Sperm flagellar protein", "protein_names_refseq": "axoneme central apparatus protein; protein PF16 homolog; sperm flagellar protein; sperm-associated antigen 6 isoform 3; testicular tissue protein Li 176", "tax_id": 9606, "disease": "", "pathway": " (hsa:9576)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10493827;11230166;11237011;12509440;16959974;26992070;29493099;29557506;33000212;33912179;34600138;35232447;35667090;38147275", "class_list": "", "function": "Homozygous SPAG6 variants can induce nonsyndromic asthenoteratozoospermia with severe MMAF. Erratum:[Reprod Biol Endocrinol. 2022 Apr 29;20(1):74. doi: 10.1186/s12958-022-00939-w. PMID: 35488345] Publication Status: Online-Only, [RefSeq, PubMed]; Important for structural integrity of the central apparatus in the sperm tail and for flagellar motility., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Measurable Residual Disease Monitoring of SPAG6, ST18, PRAME, and XAGE1A Expression in Peripheral Blood May Detect Imminent Relapse in Childhood Acute Myeloid Leukemia., [RefSeq, PubMed]; SPAG6 promotes cell proliferation and inhibits apoptosis through the PTEN/PI3K/AKT pathway in Burkitt lymphoma., [RefSeq, PubMed]; SPAG6 regulates cell proliferation and apoptosis via TGF-beta/Smad signal pathway in adult B-cell acute lymphoblastic leukemia., [RefSeq, PubMed]; The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from an infertile man. This protein localizes to the tail of permeabilized human sperm and contains eight contiguous armadillo repeats, a motif known to mediate protein-protein interactions. Studies in mice suggest that this protein is involved in sperm flagellar motility and maintenance of the structural integrity of mature sperm. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]; Upregulated SPAG6 promotes acute myeloid leukemia progression through MYO1D that regulates the EGFR family 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": 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": "A8K1I8;B4DXZ4;Q5VUX5;Q5VUX6;Q5VUX7;Q6FI74;Q8NHQ6", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0097229 sperm end piece;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005874 microtubule;GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0003351 epithelial cilium movement involved in extracellular fluid movement;GO:0046847 filopodium assembly;GO:1990138 neuron projection extension;GO:0007288 sperm axoneme assembly;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "O75602-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96ER3-1", "uniprot_id": "SAAL1_HUMAN", "mass": 53558.0, "length": 474, "protein_name": "Protein SAAL1", "gene_name": "SAAL1", "organism": "Human", "refseq_name": "protein SAAL1", "refseq_ac": "NP_612430", "gene_names_uniprotkb": "SAAL1", "gene_names_refseq": "SAAL1; SPACIA1", "protein_names_uniprotkb": "Protein SAAL1; SPACIA1; Synoviocyte proliferation-associated in collagen-induced arthritis protein 1", "protein_names_refseq": "protein SAAL1; synoviocyte proliferation-associated in collagen-induced arthritis 1; synoviocyte proliferation-associated in collagen-induced arthritis protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:113174)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;17525332;18669648;19651622;20068231;22127701;23481700;24715725;26992070;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29557506;30315122;30779550;30833945;31844290;31848261;31998317;32350084;32357974;32387766;32488085;32897882;32938616;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34019948;34211107;34509645;34561969;35051231;35561310;35580925;36241641;40914422", "class_list": "", "function": "Overexpression of SPACIA1/SAAL1, a newly identified gene that is involved in synoviocyte proliferation, accelerates the progression of synovitis in mice and humans., [RefSeq, PubMed]; Plays a role in promoting the proliferation of synovial fibroblasts in response to pro-inflammatory stimuli., [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": 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": 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": "A6NH05", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:1901647 positive regulation of synoviocyte proliferation", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q96ER3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TB22-1", "uniprot_id": "SPT20_HUMAN", "mass": 87899.0, "length": 786, "protein_name": "Spermatogenesis-associated protein 20", "gene_name": "SPATA20", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 20 isoform 2 precursor", "refseq_ac": "NP_001245301", "gene_names_uniprotkb": "SPATA20", "gene_names_refseq": "HEL-S-98; SPATA20; SSP411; Tisp78", "protein_names_uniprotkb": "Spermatogenesis-associated protein 20; Sperm-specific protein 411; Ssp411", "protein_names_refseq": "epididymis secretory protein Li 98; sperm protein SSP411; sperm-specific protein 411; spermatogenesis-associated protein 20 isoform 2 precursor; spermatogenesis-associated protein 20; transcript increased in spermiogenesis 78", "tax_id": 9606, "disease": "oligoasthenoteratozoospermia (Disease Ontology:DOID:0070311)", "pathway": " (hsa:64847)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11237011;23118872;25645385;25880248;25892735;26811146;26992070;27600516;28063628;28228285;28514659;28832583;29242379;29557506;29632711;29786170;30315122;30429286;30484775;30779550;30833945;31154438;31844290;31998317;32157095;32357974;32387766;32983136;33141586;33298915;33717175;33912179;33968037;33981976;34087483;34171305;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36415156;37938771", "class_list": "", "function": "Identification of nonfunctional SPATA20 causing acephalic spermatozoa syndrome in humans., [RefSeq, PubMed]; May play a role in fertility regulation., [UniProtKB, UniProtKB, UniProtKB]; SSP411 has potential as a biomarker for the diagnosis of Cholangiocarcinoma, [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2TA99;Q2XUZ6;Q6P0P1;Q8WVW3;Q9H747", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005739 mitochondrion", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q8TB22-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75920-1", "uniprot_id": "SERF1_HUMAN", "mass": 12349.0, "length": 110, "protein_name": "Small EDRK-rich factor 1", "gene_name": "SERF1A; SERF1B", "organism": "Human", "refseq_name": "small EDRK-rich factor 1 isoform 1", "refseq_ac": "NP_001171558", "gene_names_uniprotkb": "SERF1A; SERF1B; FAM2A; FAM2B; SERF1A; SERF1B; SERF1; SMAM1", "gene_names_refseq": "FAM2B; H4F5C; SERF1B; h4F5", "protein_names_uniprotkb": "Small EDRK-rich factor 1; Protein 4F5; SMA modifier 1; h4F5", "protein_names_refseq": "SMA modifier 1; protein 4F5; small EDRK-rich factor 1 isoform 1; small EDRK-rich factor 1B (centromeric); small EDRK-rich factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:728492); (hsa:8293)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "11237011;20723760;22854022;26375851;29557506;30379171;31034892;31844290;31998317;35580925;9731538", "class_list": "", "function": "Positive regulator of amyloid protein aggregation and proteotoxicity (PubMed:20723760, PubMed:22854022, PubMed:31034892). Induces conformational changes in amyloid proteins, such as APP, HTT, and SNCA, driving them into compact formations preceding the formation of aggregates (PubMed:20723760, PubMed:22854022, PubMed:31034892)., [UniProtKB, PubMed, PubMed, PubMed]; This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is the centromeric copy which is identical to the telomeric copy. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. The gene encodes a protein of unknown function which bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. [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": 0, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 3, "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": "B7ZKM2;O75919;Q52LK5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0032991 protein-containing complex", "go_biological_process": "GO:0007399 nervous system development;GO:1990000 amyloid fibril formation;GO:0031648 protein destabilization", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "O75920-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92791-1", "uniprot_id": "SC65_HUMAN", "mass": 50381.0, "length": 437, "protein_name": "Endoplasmic reticulum protein SC65", "gene_name": "P3H4", "organism": "Human", "refseq_name": "endoplasmic reticulum protein SC65 precursor", "refseq_ac": "NP_006446", "gene_names_uniprotkb": "P3H4; LEPREL4; NOL55; SC65", "gene_names_refseq": "LEPREL4; NO55; NOL55; P3H4; SC65", "protein_names_uniprotkb": "Endoplasmic reticulum protein SC65; Leprecan-like protein 4; Nucleolar autoantigen No55; Prolyl 3-hydroxylase family member 4; Synaptonemal complex protein SC65", "protein_names_refseq": "endoplasmic reticulum protein SC65 precursor; endoplasmic reticulum protein SC65; leprecan-like 4; leprecan-like protein 4; nucleolar autoantigen (55kD); nucleolar autoantigen No55; nucleolar autoantigen, 55kDa; prolyl 3-hydroxylase family member 4 (non-enzymatic); synaptonemal complex 65; synaptonemal complex protein SC65", "tax_id": 9606, "disease": "", "pathway": " (hsa:10609)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10.1101/2023.09.13.557529;10952778;11237011;23144993;23959653;24190977;24715725;25576301;26992070;27600516;27862975;28832583;28834231;29242379;29393594;29493099;29632046;29741879;29769354;29786170;30322400;30429286;31844290;32018225;32157095;32387766;32488085;32897882;32938616;33392160;33592498;33968037;33981976;34171305;34185709;34257701;34405274;35051231;35149972;35254053;35580925;36010968;36241641;37074911;37938771;38665916;40596516;8862517", "class_list": "", "function": "High P3H4 expression is associated with bladder cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of P3H4 inhibits proliferation and invasion of bladder cancer., [RefSeq, PubMed]; P3H4 Overexpression Serves as a Prognostic Factor in Lung Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; P3H4 and PLOD1 expression associates with poor prognosis in bladder cancer., [RefSeq, PubMed]; Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linking of collagen fibrils. Required for normal bone density and normal skin stability via its role in hydroxylation of lysine residues in collagen alpha chains and in collagen fibril assembly., [UniProtKB, UniProtKB]; SC65 protein is identified as an autoimmune target in idiopathic membranous nephropathy., [RefSeq, PubMed]; This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes. [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": 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": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q53GI6;Q9H4F6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005730 nucleolus;GO:0005783 endoplasmic reticulum;GO:1902494 catalytic complex;GO:0000795 synaptonemal complex", "go_biological_process": "GO:0030199 collagen fibril organization;GO:0046849 bone remodeling;GO:0007130 synaptonemal complex assembly;GO:0032964 collagen biosynthetic process;GO:0017185 peptidyl-lysine hydroxylation", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q92791-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UHW9-1", "uniprot_id": "S12A6_HUMAN", "mass": 127617.0, "length": 1150, "protein_name": "Solute carrier family 12 member 6", "gene_name": "SLC12A6", "organism": "Human", "refseq_name": "solute carrier family 12 member 6 isoform c", "refseq_ac": "NP_001035959", "gene_names_uniprotkb": "SLC12A6; KCC3", "gene_names_refseq": "ACCPN; CMT2II; KCC3A; KCC3B; KCC3; SLC12A6", "protein_names_uniprotkb": "Solute carrier family 12 member 6; Electroneutral potassium-chloride cotransporter 3; K-Cl cotransporter 3", "protein_names_refseq": "K-Cl cotransporter 3; electroneutral potassium-chloride cotransporter 3; potassium chloride cotransporter 3; potassium chloride cotransporter KCC3a-S3; potassium-chloride transporter-3a; potassium-chloride transporter-3b; solute carrier family 12 (potassium/chloride transporter), member 6; solute carrier family 12 (potassium/chloride transporters), member 6; solute carrier family 12 member 6 isoform c", "tax_id": 9606, "disease": "agenesis of the corpus callosum with peripheral neuropathy (Disease Ontology:DOID:0090003); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); epilepsy (Disease Ontology:DOID:1826); motor peripheral neuropathy (Disease Ontology:DOID:2477); Charcot-Marie-Tooth disease, axonal, IIa 2II (MONDO:MONDO:0031068)", "pathway": " (hsa:9990); (R-HSA-426117); (R-HSA-5619039)", "pathway_count": 3, "publication_count": 80, "publication_id_list": "10.1101/2023.09.13.557529;10187864;10347194;10600773;11237011;11551954;12106695;12368912;13785791;16048901;16606917;17893295;18566107;18578522;18669648;19665974;19690332;21406692;21613606;21628467;23186163;23481700;24043619;24190977;24393035;25418920;25502872;25576301;25645385;25880248;26217182;26375851;26992070;27485015;27782176;27846572;28904123;29437277;29493099;29557506;29741879;30315122;30410026;30429286;31154438;31217245;31439721;31530632;31844290;32157095;32161166;32350084;32357974;32502341;32938616;32983136;33199848;33298915;33392160;33592498;33912179;33968037;34031912;34093574;34267353;34357683;34433824;35051231;35154160;35251023;35580925;35733399;35759661;36542484;37074911;7629105;8528245;8640224;8663127;8812482", "class_list": "", "function": "Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype., [RefSeq, PubMed]; Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:10600773, PubMed:11551954, PubMed:16048901, PubMed:18566107, PubMed:19665974, PubMed:21628467, PubMed:27485015). May contribute to cell volume homeostasis in single cells (PubMed:16048901, PubMed:27485015)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:16048901). May contribute to cell volume homeostasis in single cells (Probable)., [UniProtKB, PubMed, PubMed, PubMed]; Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease., [RefSeq, PubMed]; This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [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": 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": 19, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 3, "disease_count": 5, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A0AV76;Q2VI00;Q7Z2E7;Q7Z4G5;Q8TDD4;Q9UFR2;Q9Y642;Q9Y665", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0046872 metal ion binding;GO:0015079 potassium ion transmembrane transporter activity;GO:0015379 potassium:chloride symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0030424 axon;GO:0045202 synapse", "go_biological_process": "GO:0071476 cellular hypotonic response;GO:0001525 angiogenesis;GO:0006811 monoatomic ion transport;GO:0071333 cellular response to glucose stimulus;GO:0007268 chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q9UHW9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q0VAQ4-1", "uniprot_id": "SMAGP_HUMAN", "mass": 10679.0, "length": 97, "protein_name": "Small cell adhesion glycoprotein", "gene_name": "SMAGP", "organism": "Human", "refseq_name": "small cell adhesion glycoprotein", "refseq_ac": "NP_001026798", "gene_names_uniprotkb": "SMAGP", "gene_names_refseq": "SMAGP; hSMAGP", "protein_names_uniprotkb": "Small cell adhesion glycoprotein; Small transmembrane and glycosylated protein", "protein_names_refseq": "small cell adhesion glycoprotein; small cell transmembrane and glycosylated protein; small trans-membrane and glycosylated protein; small transmembrane and glycosylated protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:57228)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10.1074/mcp.M114.046862;11237011;15021913;15986429;25813380;33049294;33592498;33912179;36215666;36436062", "class_list": "", "function": "May play a role in epithelial cell-cell contacts. May play a role in tumor invasiveness and metastasis formation., [UniProtKB, PubMed]; SMAGP knockdown inhibits the malignant phenotypes of glioblastoma cells by inactivating the PI3K/Akt pathway., [RefSeq, PubMed]; SMAGP regulates doxorubicin sensitivity in triple-negative breast cancer cells via modulating mitochondrial respiration., [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": 3, "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": 9, "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": "A6NIL5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030054 cell junction;GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q0VAQ4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P48067-1", "uniprot_id": "SC6A9_HUMAN", "mass": 78260.0, "length": 706, "protein_name": "Sodium- and chloride-dependent glycine transporter 1", "gene_name": "SLC6A9", "organism": "Human", "refseq_name": "sodium- and chloride-dependent glycine transporter 1 isoform 3", "refseq_ac": "NP_001020016", "gene_names_uniprotkb": "SLC6A9", "gene_names_refseq": "GCENSG; GLYT1; IS6; SLC6A9", "protein_names_uniprotkb": "Sodium- and chloride-dependent glycine transporter 1; GlyT-1; GlyT1; Solute carrier family 6 member 9", "protein_names_refseq": "glyT-1; sodium- and chloride-dependent glycine transporter 1 isoform 3; sodium- and chloride-dependent glycine transporter 1; solute carrier family 6 (neurotransmitter transporter, glycine), member 9", "tax_id": 9606, "disease": "idiopathic scoliosis (Disease Ontology:DOID:0060250); glycine encephalopathy (Disease Ontology:DOID:9268); atypical glycine encephalopathy (MONDO:MONDO:0015010); scoliosis, isolated, susceptibility to, 6 (MONDO:MONDO:0980986)", "pathway": " (hsa:6536); (R-HSA-442660)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10.1101/2023.09.13.557529;10446133;10684912;10889531;10973981;11237011;11698620;11897791;12115694;12151341;15286787;15286788;15592994;15632147;16226721;16751771;17502375;17726476;18599538;2008212;23186163;2387399;24190977;27397612;27481395;27773429;29557506;30484775;31611695;32350084;32938616;33392160;33658361;33658720;33968037;35051231;35580925;36010968;36215666;36241641;37003571;37962965;38513663;7651355;7874447;8125921;8183239;8632143;9845349", "class_list": "", "function": "Chloride-dependent conformational changes in the GlyT1 glycine transporter., [RefSeq, PubMed]; Functional crosstalk of the glycine transporter GlyT1 and NMDA receptors. Review article, [RefSeq, PubMed]; Sodium- and chloride-dependent glycine transporter (PubMed:37962965, PubMed:8183239). Essential for regulating glycine concentrations at inhibitory glycinergic synapses., [UniProtKB, UniProtKB, PubMed, PubMed]; Sodium- and chloride-dependent glycine transporter., [UniProtKB, PubMed]; Structural insights into the inhibition of glycine reuptake., [RefSeq, PubMed]; The amino acid glycine acts as an inhibitory neurotransmitter in the central nervous system. The protein encoded by this gene is one of two transporters that stop glycine signaling by removing it from the synaptic cleft. [provided by RefSeq, Jun 2016]., [RefSeq]; Transport mechanism and pharmacology of the human GlyT1., [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": 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": 1, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 9531, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NDH1;A6NII2;A6NNZ8;Q5TAB8;Q5TAB9;Q5TAC0", "ec_number_list": "", "go_molecular_function": "GO:0015187 glycine transmembrane transporter activity;GO:0005283 amino acid:sodium symporter activity;GO:0015375 glycine:sodium symporter activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0016020 membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0015816 glycine transport;GO:0046985 positive regulation of hemoglobin biosynthetic process;GO:0035725 sodium ion transmembrane transport;GO:0001504 neurotransmitter uptake;GO:0006836 neurotransmitter transport", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "P48067-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQ36-1", "uniprot_id": "SCUB2_HUMAN", "mass": 109957.0, "length": 999, "protein_name": "Signal peptide, CUB and EGF-like domain-containing protein 2", "gene_name": "SCUBE2", "organism": "Human", "refseq_name": "signal peptide, CUB and EGF-like domain-containing protein 2 isoform 2 precursor", "refseq_ac": "NP_001164161", "gene_names_uniprotkb": "SCUBE2; CEGP1", "gene_names_refseq": "CEGB1; CEGF1; CEGP1; SCUBE2; scube/You", "protein_names_uniprotkb": "Signal peptide, CUB and EGF-like domain-containing protein 2; Scube/You", "protein_names_refseq": "signal peptide, CUB and EGF-like domain-containing protein 2 isoform 2 precursor; signal peptide, CUB and EGF-like domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57758); (R-HSA-5362798)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10619433;11237011;11528127;12015973;12270931;12372301;15110707;15647319;15963974;17210683;17609110;17967162;18477453;19176481;19369267;19480626;20412775;21257310;21339334;21652720;21664575;22467855;22609552;22677548;22902404;23090970;23118222;23719536;23867465;24190977;24522195;26875496;27834687;29557506;29741879;32157095;32293498;33308444;33878879;34411563;35051231;35231446;35904110;37142671;37217939", "class_list": "", "function": "Altered SCUBE2 expression is important in breast cancer progression and SCUBE2 may serve as a useful prognostic marker., [RefSeq, PubMed]; Domain and functional analysis of a novel breast tumor suppressor protein, SCUBE2., [RefSeq, PubMed]; Expression of SCUBE2 and BCL2 Predicts Favorable Response in ERalpha Positive Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Identification as secreted protein that is expressed in vascular endothelium and may play important roles in development, inflammation, and thrombosis, [RefSeq, PubMed]; Knockdown of circ_0025908 inhibits proliferation, migration, invasion, and inflammation while stimulates apoptosis in fibroblast-like synoviocytes by regulating miR-650-dependent SCUBE2., [RefSeq, PubMed]; Knockdown of long non-coding RNA PVT1 induces apoptosis of fibroblast-like synoviocytes through modulating miR-543-dependent SCUBE2 in rheumatoid arthritis. Publication Status: Online-Only, [RefSeq, PubMed]; Lipid-binding protein carrier required for sonic hedgehog (SHH) long-range signaling: binds to the dually lipid-modified Sonic hedgehog protein N-product (ShhN) and promotes its release from producing cells, allowing it to act as a morphogen for distant signaling (PubMed:19480626, PubMed:22677548, PubMed:22902404, PubMed:35231446). ShhN is then transferred to the CDON-BOC heterodimer and GAS1 coreceptors to reach its target, the patched receptor (PTCH1 or PTCH2), followed by activation of the smoothened signaling pathway (PubMed:35231446). May also enhance the proteolytic processing (shedding) of the lipid-modified N- and C- terminal of ShhNp at the cell surface (PubMed:24522195). Synergizes with DISP1 to increase SHH secretion (PubMed:22902404). Probable cell surface coreceptor for VEGFR2 involved in VEGFR2-mediated angiogenesis (PubMed:27834687)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SCUBE2 mediates bone metastasis of luminal breast cancer by modulating immune-suppressive osteoblastic niches., [RefSeq, PubMed]; The full-length cDNA of human SCUBE2 was isolated and the role in the hedgehog signalling cascade, was studied. 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": 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": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "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": "Q2NKQ8;Q6ZWI1", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0009986 cell surface", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9NQ36-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BPZ2-1", "uniprot_id": "SPI2B_HUMAN", "mass": 29158.0, "length": 258, "protein_name": "Spindlin-2B", "gene_name": "SPIN2B", "organism": "Human", "refseq_name": "spindlin-2B isoform 1", "refseq_ac": "NP_001006682", "gene_names_uniprotkb": "SPIN2B; SPIN2", "gene_names_refseq": "SPIN-2B; SPIN-2; SPIN2B; SPIN2_duplicate; TDRD26; dJ323P24.2", "protein_names_uniprotkb": "Spindlin-2B; SPIN-2B; SPIN-2; Spindlin-like protein 2B", "protein_names_refseq": "spindlin family, member 2 duplicate; spindlin-2B isoform 1; spindlin-2B; spindlin-like protein 2B; telomeric SPIN2 copy", "tax_id": 9606, "disease": "", "pathway": " (hsa:474343)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;12145692;20351274;25576301;26992070;29061846;30620550;31154438;31848261;32161166;33592498;33912179", "class_list": "", "function": "Involved in the regulation of cell cycle progression, this activity is related to the inhibition of apoptosis following the removal of essential growth factors (PubMed:12145692). Exhibits H3K4me3-binding activity (PubMed:29061846)., [UniProtKB, PubMed, PubMed]; SERPINA3K is a high-affinity, endogenous antagonist of LRP6, [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": 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": "Q7Z2M0", "ec_number_list": "", "go_molecular_function": "GO:0140002 histone H3K4me3 reader activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription;GO:0006915 apoptotic process;GO:0007276 gamete generation", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9BPZ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WY21-1", "uniprot_id": "SORC1_HUMAN", "mass": 129635.0, "length": 1168, "protein_name": "VPS10 domain-containing receptor SorCS1", "gene_name": "SORCS1", "organism": "Human", "refseq_name": "VPS10 domain-containing receptor SorCS1 isoform b precursor", "refseq_ac": "NP_001013049", "gene_names_uniprotkb": "SORCS1; SORCS", "gene_names_refseq": "SORCS1; hSorCS", "protein_names_uniprotkb": "VPS10 domain-containing receptor SorCS1; hSorCS", "protein_names_refseq": "VPS10 domain receptor protein SORCS 1; VPS10 domain-containing receptor SorCS1 isoform b precursor", "tax_id": 9606, "disease": "proteinuria (Disease Ontology:DOID:576)", "pathway": " (hsa:114815)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11499680;12482870;16385451;16959974;18315530;23234360;23481700;24128306;26992070;27052493;28827148;29557506;31154438;31829024;31844290;32157095;32357974;33936100;33968037;35051231;36697254", "class_list": "", "function": "Different motifs regulate trafficking of SorCS1 isoforms., [RefSeq, PubMed]; Here the authors have characterized SorCS1, SorCS2 and SorCS3 using biochemical methods and electron microscopy. They found that their purified extracellular domains co-exist in stable dimeric and monomeric populations., [RefSeq, PubMed]; Human sorCS1 has three isoforms, sorCS1a-c, with completely different cytoplasmic tails and differential expression in tissues, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SorCS1 inhibits amyloid-beta binding to neurexin and rescues amyloid-beta-induced synaptic pathology. Publication Status: Online-Only, [RefSeq, PubMed]; SorCS1 is epigenetically inactivated in a substantial fraction of colorectal cancers, [RefSeq, PubMed]; The propeptide region of sorCS1 contains two separate sites for binding to sortilin. One of these sites is removed from human sorCS1 during processing., [RefSeq, PubMed]; This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; We report for the first time the relevance of SORCS1 polymorphisms for glycemic control and glucose stimulated insulin secretion in obese women with polycystic ovary syndrome. SORCS1 rs1416406 significantly influenced stimulated glucose plasma levels and increased glucose stimulated insulin secretion, [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": 3, "reported_o_glycosites": 1, "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": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 87, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A2RRF4;Q59GG7;Q5JVT7;Q5JVT8;Q5VY14;Q86WQ1;Q86WQ2;Q9H1Y1;Q9H1Y2", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0008188 neuropeptide receptor activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0007218 neuropeptide signaling pathway;GO:0015031 protein transport;GO:0006892 post-Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q8WY21-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HBR0-1", "uniprot_id": "S38AA_HUMAN", "mass": 119762.0, "length": 1119, "protein_name": "Solute carrier family 38 member 10", "gene_name": "SLC38A10", "organism": "Human", "refseq_name": "solute carrier family 38 member 10 isoform a", "refseq_ac": "NP_001033073", "gene_names_uniprotkb": "SLC38A10; PP1744", "gene_names_refseq": "PP1744; SLC38A10; SNAT10", "protein_names_uniprotkb": "Solute carrier family 38 member 10; Amino acid transporter SLC38A10", "protein_names_refseq": "Sodium-coupled neutral amino acid transporter 10; amino acid transporter SLC38A10; putative sodium-coupled neutral amino acid transporter 10; solute carrier family 38 member 10 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:124565)", "pathway_count": 1, "publication_count": 87, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;11237011;15498874;20166139;22424782;22544926;23481700;23584533;24275569;24715725;25418920;25502872;25576301;25645385;25813380;26154972;26375851;26929215;26992070;27600516;27862975;27920218;28218747;28228285;28467828;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30429286;30459171;30524438;30779550;31020640;31524172;31611695;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34433824;34509645;34561969;35051231;35154160;35251023;35318648;35580925;36010968;36215666;36241641;36284347;37938771;40307207", "class_list": "", "function": "A Fragment of S38AA is a Novel Plasma Biomarker of Alzheimer's Disease., [RefSeq, PubMed]; Facilitates bidirectional transport of amino acids. May act as a glutamate sensor that regulates glutamate-glutamine cycle and mTOR signaling in the brain. The transport mechanism remains to be elucidated., [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": 27, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 27, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 27, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 27, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZRC5;Q8NA99;Q96C66", "ec_number_list": "", "go_molecular_function": "GO:0015179 L-amino acid transmembrane transporter activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0003333 amino acid transmembrane transport;GO:0006865 amino acid transport", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "Q9HBR0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N1S5-1", "uniprot_id": "S39AB_HUMAN", "mass": 35396.0, "length": 342, "protein_name": "Zinc transporter ZIP11", "gene_name": "SLC39A11", "organism": "Human", "refseq_name": "zinc transporter ZIP11 isoform 1", "refseq_ac": "NP_001153242", "gene_names_uniprotkb": "SLC39A11; C17orf26; ZIP11", "gene_names_refseq": "C17orf26; SLC39A11; ZIP-11; ZIP11", "protein_names_uniprotkb": "Zinc transporter ZIP11; Solute carrier family 39 member 11; ZIP-11; Zrt- and Irt-like protein 11", "protein_names_refseq": "ZRT/IRT-like protein 11; Zrt- and Irt-like protein 11; solute carrier family 39 (metal ion transporter), member 11; zinc transporter 11; zinc transporter ZIP11 isoform 1; zinc transporter ZIP11", "tax_id": 9606, "disease": "", "pathway": " (hsa:201266)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;11707075;19913121;20628086;23481700;24715725;25418920;25892735;25900876;25921144;26929215;26992070;28063628;28218747;28832583;29242379;29393594;29437277;30122198;30410026;31844290;32265295;32387766;32938616;33592498;33631610;33717175;33968037;35494241;35580925;38285610", "class_list": "", "function": "In glioma tumors, low ZIP11 expression was significantly associated with higher grade. Higher ZIP11 expression was weakly correlated with IDH1 mutation status., [RefSeq, PubMed]; Increased expression of zinc transporter ZIP4, ZIP11, ZnT1, and ZnT6 predicts poor prognosis in pancreatic cancer., [RefSeq, 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]; Polymorphisms within ZIP11 gene were significantly associated with bladder cancer risk., [RefSeq, PubMed]; Single nucleotide polymorphisms and Zn transport by ZIP11 shape functional phenotypes of HeLa cells., [RefSeq, PubMed]; This paper describes the genomic region surrounding the SOX9 gene which includes SLC39A11 (C17orf26)., [RefSeq, PubMed]; We found 8 different single nucleotide polymorphisms (SNPs) that are significantly different between subjects without gastritis and those with gastritis... In conclusion, we found that zinc transporter gene ZIP11 is associated with chronic gastritis in the Korean population and it may interact with spicy food, which suggests ZIP11 as a therapeutic target for precision nutrition., [RefSeq, PubMed]; Zinc importer that regulates cytosolic zinc concentrations either via zinc influx from the extracellular compartment or efflux from intracellular organelles such as Golgi apparatus. May transport copper ions as well. The transport mechanism remains to be elucidated., [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": 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": "B2R8H7;Q8WZ81", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0005375 copper ion transmembrane transporter activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0071577 zinc ion transmembrane transport;GO:0071578 zinc ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q8N1S5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NWH7-1", "uniprot_id": "SPAT6_HUMAN", "mass": 55989.0, "length": 488, "protein_name": "Spermatogenesis-associated protein 6", "gene_name": "SPATA6", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 6 isoform 2", "refseq_ac": "NP_001273167", "gene_names_uniprotkb": "SPATA6", "gene_names_refseq": "HASH; SPATA6; SRF-1; SRF1", "protein_names_uniprotkb": "Spermatogenesis-associated protein 6", "protein_names_refseq": "spermatogenesis-associated protein 6 isoform 2; spermatogenesis-associated protein 6; spermatogenesis-related factor-1; testicular tissue protein Li 178", "tax_id": 9606, "disease": "", "pathway": " (hsa:54558)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;12509440;26464655;31154438;31838782;33141586;36010968;36415156", "class_list": "", "function": "Identification of nonfunctional SPATA20 causing acephalic spermatozoa syndrome in humans., [RefSeq, PubMed]; Increased DNA methylation in the spermatogenesis-associated (SPATA) genes correlates with infertility., [RefSeq, PubMed]; Required for formation of the sperm connecting piece during spermiogenesis. Sperm connecting piece is essential for linking the developing flagellum to the head during late spermiogenesis. May be involved in myosin-based microfilament transport through interaction with myosin subunits., [UniProtKB, UniProtKB]; SPATA6 may play an important role in testicular germ cell tumors, and down-regulation of SPATA6 could lead to apoptosis of testicular germ cell tumors. 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": 11, "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": "Q5T3N7;Q8WUE6", "ec_number_list": "", "go_molecular_function": "GO:0032027 myosin light chain binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0031514 motile cilium;GO:0120212 sperm head-tail coupling apparatus", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0044458 motile cilium assembly", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9NWH7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P18583-1", "uniprot_id": "SON_HUMAN", "mass": 263830.0, "length": 2426, "protein_name": "Protein SON", "gene_name": "SON", "organism": "Human", "refseq_name": "protein SON isoform H", "refseq_ac": "NP_001278341", "gene_names_uniprotkb": "SON; C21orf50; DBP5; HSPC310; HSPC312; KIAA1019; NREBP", "gene_names_refseq": "BASS1; C21orf50; DBP-5; NREBP; SON3; SON; TOKIMS", "protein_names_uniprotkb": "Protein SON; BASS1; Bax antagonist selected in saccharomyces 1; NRE-binding protein; Negative regulatory element-binding protein; Protein DBP-5; SON3", "protein_names_refseq": "Bax antagonist selected in Saccharomyces 1; NRE-binding protein; SON DNA binding protein; negative regulatory element-binding protein; protein SON isoform H", "tax_id": 9606, "disease": "ZTTK syndrome (Disease Ontology:DOID:0060953); congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (Disease Ontology:DOID:0112359); congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:6651)", "pathway_count": 1, "publication_count": 169, "publication_id_list": "10509013;10608806;11120772;11237011;11306577;11707072;1424986;1435773;1435774;14637006;14759258;15104674;17081983;18669648;18952841;1944255;19608861;19690332;20068230;20068231;20581448;21406692;21504830;22424782;22661428;23186163;23301498;23481700;24129315;24275569;24366607;24714562;24715725;25418920;25576301;25590979;25645385;25755297;25810538;25880248;25892735;26154972;26375851;26768311;26811146;26992070;27114449;27256762;27397612;27503676;27545676;27545680;27600516;27846572;27862975;27869121;27920218;28063628;28218747;28228285;28514659;28649982;28657654;28832583;28834231;28855257;28904123;29237092;29242379;29249144;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30059200;30315122;30379171;30429286;30484775;30524438;3054499;30620550;30779550;30833945;31020640;31092671;31154438;31217245;31222486;31373491;31492838;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33123756;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34023904;34087483;34105348;34171305;34211107;34509645;34725712;34846842;34932366;35051231;35132862;35251023;35254053;35289036;35318648;35513511;35561310;35580925;35705054;36010968;36215666;36240223;36241641;36284347;36581221;37217939;37340703;37541260;37938771;38065069;38665916;38838015;39313574;39531497;39534244;40136647;40307207;40596516;41350704", "class_list": "", "function": "RNA-binding protein that acts as a mRNA splicing cofactor by promoting efficient splicing of transcripts that possess weak splice sites. Specifically promotes splicing of many cell-cycle and DNA-repair transcripts that possess weak splice sites, such as TUBG1, KATNB1, TUBGCP2, AURKB, PCNT, AKT1, RAD23A, and FANCG. Probably acts by facilitating the interaction between Serine/arginine-rich proteins such as SRSF2 and the RNA polymerase II. Also binds to DNA; binds to the consensus DNA sequence: 5'-GA[GT]AN[CG][AG]CC-3'. May indirectly repress hepatitis B virus (HBV) core promoter activity and transcription of HBV genes and production of HBV virions. Essential for correct RNA splicing of multiple genes critical for brain development, neuronal migration and metabolism, including TUBG1, FLNA, PNKP, WDR62, PSMD3, PCK2, PFKL, IDH2, and ACY1 (PubMed:27545680)., [UniProtKB, PubMed, PubMed, PubMed]; SON is an essential RNA splicing factor promoting ErbB2 and ErbB3 expression in breast cancer., [RefSeq, PubMed]; SON is an essential m[6]A target for hematopoietic stem cell fate., [RefSeq, PubMed]; This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 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": 23, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 23, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 23, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 38, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 66, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 27, "binding_glycan_count": 0, "secondary_ac_list": "D3DSF5;D3DSF6;E7ETE8;E7EU67;E7EVW3;E9PFQ2;O14487;O95981;Q14120;Q6PKE0;Q9H7B1;Q9P070;Q9P072;Q9UKP9;Q9UPY0", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0016607 nuclear speck", "go_biological_process": "GO:0006397 mRNA processing;GO:0043066 negative regulation of apoptotic process;GO:0008380 RNA splicing;GO:0000281 mitotic cytokinesis;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 19.5, "record_id": "P18583-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92925-1", "uniprot_id": "SMRD2_HUMAN", "mass": 58921.0, "length": 531, "protein_name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2", "gene_name": "SMARCD2", "organism": "Human", "refseq_name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 isoform 1", "refseq_ac": "NP_001091896", "gene_names_uniprotkb": "SMARCD2; BAF60B; PRO2451", "gene_names_refseq": "BAF60B; CRACD2; PRO2451; Rsc6p; SGD2; SMARCD2", "protein_names_uniprotkb": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2; 60 kDa BRG-1/Brm-associated factor subunit B; BAF60B; BRG1-associated factor 60B", "protein_names_refseq": "60 kDa BRG-1/Brm-associated factor subunit B; SWI/SNF complex 60 kDa subunit B; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 isoform 1; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2; Swp73-like protein; chromatin remodeling complex BAF60B subunit; mammalian chromatin remodeling complex BRG1-associated factor 60B", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); Coffin-Siris syndrome (Disease Ontology:DOID:1925); specific granule deficiency 2 (MONDO:MONDO:0044208)", "pathway": " (hsa:6603); (R-HSA-3214858); (R-HSA-8939243); (R-HSA-9824585); (R-HSA-9845323); (R-HSA-9933939); (R-HSA-9933946); (R-HSA-9933947); (R-HSA-9934037)", "pathway_count": 9, "publication_count": 159, "publication_id_list": "10078207;10587587;11237011;11341840;11448779;11532965;11747826;11751582;11756452;11856727;11964381;12062444;12368262;1321344;1537333;1537334;15485929;15543135;15640446;15695812;15729346;15985610;16265664;16303920;16917507;16964243;17182843;17215844;17498659;17640523;17898714;17952075;18079182;18404153;18483556;18669648;18695000;18697795;18765789;18809673;18812475;19234465;19389701;19413330;19608861;19664994;19664995;19691289;19717472;20068231;20148946;20506188;20951943;21316606;21406692;21555454;21774791;22231400;22325351;22464331;22952240;23186163;23481700;23644491;23785148;24129315;24267888;24275569;24714562;24715725;25418920;25576301;25645385;25880248;26154972;26365797;26375851;26601204;26694611;26758079;26768311;26811146;26929215;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28369036;28832583;28834231;28904123;29242379;29331515;29351928;29374058;29393594;29437277;29493099;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30484775;30515787;31154438;31222486;31530632;31844290;31848261;31998317;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33025377;33100333;33141586;33214551;33279574;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34171305;34465901;34509645;34932366;35051231;35318648;35561310;35580127;35580925;36010968;36241641;36284347;37217939;37938771;38359823;40596516;40914422;7813420;8306979;8804307;8921401;9642256;9758418", "class_list": "", "function": "Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2., [RefSeq, PubMed]; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:22952240, PubMed:26601204). Critical regulator of myeloid differentiation, controlling granulocytopoiesis and the expression of genes involved in neutrophil granule formation (PubMed:28369036)., [UniProtKB, PubMed, PubMed, PubMed]; Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis. Review article, [RefSeq, PubMed]; The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [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": 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": 10, "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": "A5PLL5;A6NNQ7;B4DV56;B4E1R6;Q7L2I6;Q9UHZ1", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016514 SWI/SNF complex;GO:0016363 nuclear matrix;GO:0000776 kinetochore", "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:0045597 positive regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "Q92925-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BSG5-1", "uniprot_id": "RTBDN_HUMAN", "mass": 24615.0, "length": 229, "protein_name": "Retbindin", "gene_name": "RTBDN", "organism": "Human", "refseq_name": "retbindin isoform 1 precursor", "refseq_ac": "NP_001074466", "gene_names_uniprotkb": "RTBDN", "gene_names_refseq": "RTBDN", "protein_names_uniprotkb": "Retbindin", "protein_names_refseq": "retbindin isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:83546)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;12107411;21697133;25542898;29721980", "class_list": "", "function": "Retbindin is an excellent candidate for binding retinal flavins and possibly participating in their transport from the extracellular space to the photoreceptors., [RefSeq, PubMed]; Retbindin is capable of flavin binding. This characteristic can protect photoreceptors from flavin-sensitized light damage. Human retbindin in the culture media of a riboflavin-sensitized transgenic mouse cone cell line protected it from a 1-hour light-box exposure at 12,000 lux., [RefSeq, PubMed]; Riboflavin-binding protein which might have a role in retinal flavin transport., [UniProtKB, UniProtKB]; This gene was first identified in a study of human eye tissues. The protein encoded by this gene is preferentially expressed in the retina and may play a role in binding retinoids and other carotenoids as it shares homology with riboflavin binding proteins. Alternative splicing results in multiple transcript variants and protein isoforms. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "F1T0I8;Q9BWT5", "ec_number_list": "", "go_molecular_function": "GO:0032217 riboflavin transmembrane transporter activity;GO:1902444 riboflavin binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0033165 interphotoreceptor matrix;GO:0009897 external side of plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q9BSG5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BV40-1", "uniprot_id": "VAMP8_HUMAN", "mass": 11438.0, "length": 100, "protein_name": "Vesicle-associated membrane protein 8", "gene_name": "VAMP8", "organism": "Human", "refseq_name": "vesicle-associated membrane protein 8", "refseq_ac": "NP_003752", "gene_names_uniprotkb": "VAMP8", "gene_names_refseq": "EDB; VAMP-8; VAMP8", "protein_names_uniprotkb": "Vesicle-associated membrane protein 8; EDB; Endobrevin; VAMP-8", "protein_names_refseq": "vesicle-associated membrane protein 8 (endobrevin); vesicle-associated membrane protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:8673); (R-HSA-1236974); (R-HSA-199992); (R-HSA-432720); (R-HSA-432722); (R-HSA-6798695); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 8, "publication_count": 278, "publication_id_list": "10.1101/2023.09.13.557529;10097102;10394364;10436022;10436028;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10983987;11071885;11076969;11082044;11101518;11139587;11231140;11237011;11239472;11247302;11333915;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11590181;11604418;11694590;11877457;11877461;11889126;11919637;11927540;11988742;11994746;12057195;12086608;12130530;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12717448;12847086;12944396;12952949;12958364;1317852;14555962;14581451;14617351;14622578;14622579;14662753;14726597;14993220;15102850;15134832;15252009;15260957;15318165;15339664;1535555;15473838;15502812;15502813;15649145;15671180;15703209;15728179;15802264;15895077;15916959;16103228;16155256;16159959;16215232;16326391;16410077;16459302;16460808;16516836;16707488;16723738;16798879;16867982;16880396;16903783;16984405;17018281;17035995;17116749;17158794;17267500;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17713526;17762867;17765681;17978091;18032517;18093523;18166656;18199683;18388313;1847920;18692471;18775314;18790740;18819912;18973100;18981233;19092055;19140243;19217269;19287005;19296720;19458185;19536138;19559397;19575674;19603039;19651622;19651769;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20059951;20068231;20166139;20211604;20230749;20231386;20351096;20428113;20448150;20708039;20826345;20946875;21102408;2115402;21187331;21278753;21316588;21445324;21482805;21499258;21613550;21620353;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22153078;22233676;22357968;22484487;22505844;2257624;22815487;22863004;22942912;23186163;23217709;23297414;23536704;23613522;23650620;23823722;23861397;23891661;24130457;24186068;24384571;24494924;24581490;24680432;24746795;24789820;24966051;25083866;25107275;25303366;25341920;25648148;25686604;26042225;26403691;26829388;28265073;28832583;2890644;29242379;29393594;29508533;29557506;29632046;29786170;30061757;30429286;31154438;31217245;31694946;31844290;32157095;32350084;32387766;32983136;33298915;33422265;33968037;34171305;3417785;34211107;34357683;34433824;34509645;34561969;35251023;35580925;37405957;37821429;38182888;38720136;6146630;7569928;7822302;7877694;8374173;8524399;8552632;8553074;8670264;8692836;8810314;8837779;9092476;9100026;9169477;9303539;9427626;9428629;9614177;9614193;9635431;9723620;9727496;9733768;9736607;9812899", "class_list": "", "function": "SNAREs (soluble N-ethylmaleimide-sensitive factor-attachment protein receptors) are essential proteins for intracellular membrane fusion. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four-helix bundle whose assembly releases energy that drives membrane fusion. The core SNARE complex typically consists of four alpha-helical domains, three from target membrane SNAREs (t-SNAREs) and one from a vesicle SNARE (v-SNARE) (PubMed:23217709, PubMed:25686604, PubMed:28265073). VAMP8 is a v-SNARE that forms a SNARE complex with the t-SNARE STX11 and SNAP23. This SNARE complex plays a critical role in the regulated exocytosis of cytotoxic granules by natural killer (NK) cells and cytotoxic T-lymphocytes (PubMed:28265073). VAMP8 plays a role in autophagy where it controls organelle-organelle membrane fusion through a VAMP8, SNAP29 and STX17 SNARE complex that mediates the fusion of autophagosome and lysososome membranes (PubMed:23217709, PubMed:25686604). VAMP8 is required for dense-granule secretion in platelets (PubMed:12130530). Also plays a role in regulated enzyme secretion in pancreatic acinar cells (By similarity). Involved in the abscission of the midbody during cell division, which leads to completely separate daughter cells (By similarity). Involved in the homotypic fusion of early and late endosomes (By similarity). Also participates in the activation of type I interferon antiviral response through a TRIM6-dependent mechanism (PubMed:31694946)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The STX17-SNAP47-VAMP7/VAMP8 complex is the default SNARE complex mediating autophagosome-lysosome fusion., [RefSeq, PubMed]; This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010]., [RefSeq]; VAMP8 suppresses the metastasis via DDX5/beta-catenin signal pathway in osteosarcoma., [RefSeq, PubMed]; Vesicle-associated membrane protein 8 knockdown exerts anti-proliferative, pro-apoptotic, anti-autophagic, and pro-ferroptotic effects on colorectal cancer cells by inhibition of the JAK/STAT3 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": 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": 6, "reported_mutagensis": 2, "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": "O60625;Q53SP9;Q6IB09", "ec_number_list": "", "go_molecular_function": "GO:0019869 chloride channel inhibitor activity;GO:0019905 syntaxin binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0015031 protein transport;GO:0051607 defense response to virus;GO:0016236 macroautophagy;GO:0070254 mucus secretion", "synthesized_glycan_count": 0, "hit_score": 28.1, "record_id": "Q9BV40-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UDX4-1", "uniprot_id": "S14L3_HUMAN", "mass": 46048.0, "length": 400, "protein_name": "SEC14-like protein 3", "gene_name": "SEC14L3", "organism": "Human", "refseq_name": "SEC14-like protein 3 isoform 2", "refseq_ac": "NP_001244307", "gene_names_uniprotkb": "SEC14L3; TAP2", "gene_names_refseq": "SEC14L3; TAP2", "protein_names_uniprotkb": "SEC14-like protein 3; Tocopherol-associated protein 2", "protein_names_refseq": "SEC14-like 3; SEC14-like protein 3 isoform 2; SEC14-like protein 3; SEC14p-like protein TAP2; tocopherol-associated protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:266629)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;12757856;15033454;15040456;18477386;28383034;28463110;32983136;34108094;35447102;39425205", "class_list": "", "function": "Creb1/Crtc1-3 and Sec14l3 could be important for early responses of the bronchial epithelium to Th2-stimuli. Publication Status: Online-Only, [RefSeq, PubMed]; Discusses cloning of rat SEC14-like protein 3 and mentions three human SPF-related genes, known as SEC14-like protein 1, 2 and 3., [RefSeq, PubMed]; Genome-wide DNA methylation profiling in nonalcoholic fatty liver reveals predictive aberrant methylation in PRKCE and SEC14L3 promoters., [RefSeq, PubMed]; Here, the authors report that the zebrafish/human phosphatidylinositol transfer protein Sec14l3/SEC14L2 act as GTPase proteins to transduce Wnt signals from Frizzled to phospholipase C (PLC). Publication Status: Online-Only, [RefSeq, PubMed]; Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids., [UniProtKB]; SEC14L3 knockdown inhibited clear cell renal cell carcinoma proliferation, metastasis and sunitinib resistance through an SEC14L3/RPS3/NFkappaB positive feedback loop. Publication Status: Online-Only, [RefSeq, PubMed]; SEC14L3 plays a tumor-suppressive role in breast cancer through a Wnt/beta-catenin-related way., [RefSeq, PubMed]; The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]., [RefSeq]; We report a human SPF/TAP homology SEC14L3 with 2082 base pairs in length and contains an open reading frame encoding a 400 amino acids protein. Analysis shows that SEC14L3 is mapped to 22q12 and expresses only in the liver, [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": "E7EN74;E9PE57;Q495V8;Q495W0;Q495W1", "ec_number_list": "", "go_molecular_function": "GO:0008289 lipid binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9UDX4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HD40-1", "uniprot_id": "SPCS_HUMAN", "mass": 55726.0, "length": 501, "protein_name": "O-phosphoseryl-tRNA(Sec) selenium transferase", "gene_name": "SEPSECS", "organism": "Human", "refseq_name": "O-phosphoseryl-tRNA(Sec) selenium transferase isoform 1", "refseq_ac": "NP_058651", "gene_names_uniprotkb": "SEPSECS; TRNP48", "gene_names_refseq": "LP; PCH2D; SEPSECS; SLA-p35; SLA/LP; SLA; SecS", "protein_names_uniprotkb": "O-phosphoseryl-tRNA(Sec) selenium transferase; 2.9.1.2; LP; Liver-pancreas antigen; SLA-p35; SLA/LP autoantigen; SLA; Sec synthase; Selenocysteine synthase; Selenocysteinyl-tRNA(Sec) synthase; Sep-tRNA:Sec-tRNA synthase; SepSecS; Soluble liver antigen; UGA suppressor tRNA-associated protein; tRNA(Ser/Sec)-associated antigenic protein", "protein_names_refseq": "O-phosphoseryl-tRNA(Sec) selenium transferase isoform 1; O-phosphoseryl-tRNA(Sec) selenium transferase; SLA/LP autoantigen; UGA suppressor tRNA-associated protein; liver-pancreas antigen; soluble liver antigen/liver pancreas antigen; tRNA(Ser/Sec)-associated antigenic protein", "tax_id": 9606, "disease": "pontocerebellar hypoplasia type 2D (Disease Ontology:DOID:0060270)", "pathway": " (hsa:51091); (R-HSA-2408557)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "10801173;10931155;10970870;11230739;11237011;11265756;11826415;15317934;15534230;15821744;16508009;17142313;18773898;19413330;19608919;20920667;23186163;23481700;25576301;25892735;26115735;27920218;28414460;28832583;28904123;29242379;29632046;30315122;31092671;31844290;32157095;32265295;32387766;32488085;32938616;33141586;33298915;33691108;33912179;33968037;34884733;35051231;35091508;36010968;37217939;37761892;39894887;8890909;9431993;9637248", "class_list": "", "function": "Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease. Publication Status: Online-Only, [RefSeq, PubMed]; Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec) required for selenoprotein biosynthesis., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Integrative Analysis Unveils the Correlation of Aminoacyl-tRNA Biosynthesis Metabolites with the Methylation of the SEPSECS Gene in Huntington's Disease Brain Tissue. Publication Status: Online-Only, [RefSeq, PubMed]; The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process, the conversion of O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec).[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": 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": 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": "A8K8W1;Q0D2P3;Q17RT1;Q9NXZ5;Q9UGM9;Q9Y353", "ec_number_list": "2.9.1.2", "go_molecular_function": "GO:0000049 tRNA binding;GO:0098621 O-phosphoseryl-tRNA(Sec) selenium transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0001514 selenocysteine incorporation;GO:0016260 selenocysteine biosynthetic process;GO:0001717 conversion of seryl-tRNAsec to selenocys-tRNAsec;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9HD40-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86VZ5-1", "uniprot_id": "SMS1_HUMAN", "mass": 48617.0, "length": 413, "protein_name": "Phosphatidylcholine:ceramide cholinephosphotransferase 1", "gene_name": "SGMS1", "organism": "Human", "refseq_name": "phosphatidylcholine:ceramide cholinephosphotransferase 1", "refseq_ac": "NP_671512", "gene_names_uniprotkb": "SGMS1; MOB; SMS1; TMEM23", "gene_names_refseq": "MOB1; MOB; SGMS1; SMS1; TMEM23; hmob33", "protein_names_uniprotkb": "Phosphatidylcholine:ceramide cholinephosphotransferase 1; 2.7.8.27; Medulla oblongata-derived protein; Protein Mob; Sphingomyelin synthase 1; Transmembrane protein 23", "protein_names_refseq": "medulla oblongata-derived protein; phosphatidylcholine:ceramide cholinephosphotransferase 1; protein Mob; transmembrane protein 23", "tax_id": 9606, "disease": "pulmonary edema (Disease Ontology:DOID:11396)", "pathway": " (hsa:259230); (R-HSA-1660661)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "10722674;10751414;10802064;10947957;11237011;11841947;11937514;14685229;14685263;14976195;15063729;15315829;15328338;15337768;16100120;16118219;16508036;16571669;16793762;16895911;17023427;17050692;17331073;17355976;17449912;17591919;17982138;18165232;18165233;18184806;18370930;18694848;19005213;19233134;19416851;19454763;19506037;20061445;20110355;20182505;21620961;21980337;22517924;22970244;23180825;23186163;23602659;23754960;24569996;24782409;25788259;28575652;29242379;29563527;30242129;31844290;31895563;32157095;32350084;32938616;33037626;33141586;33226447;33500344;34357683;35251023;35409383;36902339;36907437;37166445;37224812;37390971;37715942;4339164;4817756;9188692;9312549;9363775", "class_list": "glycogene", "function": "Diacylglycerol kinase zeta interacts with sphingomyelin synthase 1 and sphingomyelin synthase-related protein via different regions., [RefSeq, PubMed]; Human sphingomyelin synthase 1 generates diacylglycerol in the presence and absence of ceramide via multiple enzymatic activities., [RefSeq, PubMed]; MOB gene activity is believed to be controlled at least at the transcriptional and the posttranscriptional levels, strictly regulating the amount of the encoded protein product., [RefSeq, PubMed]; Major sphingomyelin synthase at the Golgi apparatus (PubMed:14685263, PubMed:17449912). Catalyzes the reversible transfer of phosphocholine moiety in sphingomyelin biosynthesis: in the forward reaction transfers phosphocholine head group of phosphatidylcholine (PC) on to ceramide (CER) to form ceramide phosphocholine (sphingomyelin, SM) and diacylglycerol (DAG) as by-product, and in the reverse reaction transfers phosphocholine from SM to DAG to form PC and CER. The direction of the reaction depends on the levels of CER and DAG in Golgi membranes (PubMed:14685263, PubMed:14976195, PubMed:17449912, PubMed:17982138, PubMed:19454763). Converts the newly synthesized CER, that is transported from the endoplasmic reticulum to the trans-Golgi by the Cer transport protein (CERT), to SM (PubMed:30242129). Can form a heteromeric complex with glucosylceramide synthase (GCS) increasing SMS activity and reducing glucosylceramide synthesis, a critical mechanism that controls the metabolic fate of CER in the Golgi (PubMed:30242129). Does not use free phosphorylcholine or CDP-choline as donor (PubMed:14685263, PubMed:14976195). Can also transfer phosphoethanolamine head group of phosphatidylethanolamine (PE) on to CER to form ceramide phosphoethanolamine (CPE) (By similarity). Regulates receptor-mediated signal transduction via mitogenic DAG and proapoptotic CER, as well as via SM, a structural component of membrane rafts that serve as platforms for signal transduction and protein sorting (PubMed:14976195, PubMed:17449912, PubMed:17982138). Plays a role in secretory transport via regulation of DAG pool at the Golgi apparatus and its downstream effects on PRKD1 (PubMed:18370930, PubMed:21980337)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Overriding sorafenib resistance via blocking lipid metabolism and Ras by sphingomyelin synthase 1 inhibition in hepatocellular carcinoma., [RefSeq, PubMed]; Regulation of human sphingomyelin synthase 1 translation through its 5'-untranslated region., [RefSeq, PubMed]; SMS1 is responsible for SM synthase activity in mammalian cells and plays a critical role in cell growth of lymphoid cells., [RefSeq, PubMed]; Sphingomyelin Biosynthesis Is Essential for Phagocytic Signaling during Mycobacterium tuberculosis Host Cell Entry. Publication Status: Online-Only, [RefSeq, PubMed]; The 1.6 kb Hmob33 clone obtained from the medulla oblongata cDNA library and mapped to the human chromosome 10 was examined to find the coding region(MOB), [RefSeq, PubMed]; The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [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": 4, "reported_glycation": 0, "reported_snv": 373, "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": "D3DWC4;Q68U43;Q6EKK0;Q75SP1", "ec_number_list": "2.7.8.27;2.7.8.-;3.1.4.62", "go_molecular_function": "GO:0002950 ceramide phosphoethanolamine synthase activity;GO:0033188 sphingomyelin synthase activity;GO:0047493 ceramide cholinephosphotransferase activity;GO:0016301 kinase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006686 sphingomyelin biosynthetic process;GO:0046513 ceramide biosynthetic process;GO:0006915 apoptotic process;GO:0030148 sphingolipid biosynthetic process;GO:2001242 regulation of intrinsic apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q86VZ5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H2X9-1", "uniprot_id": "S12A5_HUMAN", "mass": 126184.0, "length": 1139, "protein_name": "Solute carrier family 12 member 5", "gene_name": "SLC12A5", "organism": "Human", "refseq_name": "solute carrier family 12 member 5 isoform 1", "refseq_ac": "NP_001128243", "gene_names_uniprotkb": "SLC12A5; KCC2; KIAA1176", "gene_names_refseq": "DEE34; EIEE34; EIG14; KCC2; SLC12A5; hKCC2", "protein_names_uniprotkb": "Solute carrier family 12 member 5; Electroneutral potassium-chloride cotransporter 2; K-Cl cotransporter 2; Neuronal K-Cl cotransporter; hKCC2", "protein_names_refseq": "electroneutral potassium-chloride cotransporter 2; erythroid K-Cl cotransporter 2; neuronal K-Cl cotransporter; solute carrier family 12 (potassium/chloride transporter), member 5; solute carrier family 12 member 5 isoform 1", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 34 (Disease Ontology:DOID:0080460); obsolete idiopathic generalized epilepsy 14 (Disease Ontology:DOID:0111315); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:57468); (R-HSA-426117)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10.1101/2023.09.13.557529;10347194;10600773;11237011;11701957;12106695;12368912;12637262;13785791;16344560;16959974;19665974;21613606;24668262;24928908;25576301;26333769;26528127;28467828;29242379;29557506;30192525;30833945;31154438;31530632;31844290;31848261;32161166;32938616;32983136;33199848;33310850;34267353;34357683;35051231;35154160;36215666;36323541;36645171;36917367;37074911;38373478;39142020;7629105;8528245;8640224;8663127;8812482", "class_list": "", "function": "Chromosome 20 mapping Erratum:[Cytogenet Cell Genet. 2002;98(2-3):232], [RefSeq, PubMed]; Expression of hKCC2 cRNA in Xenopus laevis oocytes results in significant Cl(-)-dependent (86)Rb(+) uptake under isotonic conditions, [RefSeq, PubMed]; Human osteoblasts express functional K-Cl cotransporters in their cell membrane that seem to be able to induce the indirect activation of volume-sensitive Cl- channels by KCl through an increase in the intracellular ions, water influx and cell swelling., [RefSeq, PubMed]; K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]., [RefSeq]; Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis (PubMed:12106695). As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition (By similarity). Involved in the regulation of dendritic spine formation and maturation (PubMed:24668262)., [UniProtKB, PubMed, UniProtKB, PubMed]; Midbrain KCC2 downregulation: Implications for stress-related and substance use behaviors. Review article, [RefSeq, PubMed]; SLC12A5 as a novel potential biomarker of glioblastoma multiforme., [RefSeq, PubMed]; SLC12A5 promotes hepatocellular carcinoma growth and ferroptosis resistance by inducing ER stress and cystine transport changes., [RefSeq, PubMed]; The expression system influences stability, maturation efficiency, and oligomeric properties of the potassium-chloride co-transporter KCC2., [RefSeq, PubMed]; [Expression of cation chloride cotransporter (NKCC1/KCC2) in brain tissue of children with focal cortical dysplasia type ]., [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": 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": 6, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A2RTX2;Q5VZ41;Q9H4Z0;Q9ULP4", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0046872 metal ion binding;GO:0008519 ammonium channel activity;GO:0015108 chloride transmembrane transporter activity;GO:0015379 potassium:chloride symporter activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043025 neuronal cell body;GO:0043204 perikaryon", "go_biological_process": "GO:0030644 intracellular chloride ion homeostasis;GO:0006811 monoatomic ion transport;GO:0007268 chemical synaptic transmission;GO:0006884 cell volume homeostasis;GO:0060996 dendritic spine development", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q9H2X9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P78330-1", "uniprot_id": "SERB_HUMAN", "mass": 25008.0, "length": 225, "protein_name": "Phosphoserine phosphatase", "gene_name": "PSPH", "organism": "Human", "refseq_name": "phosphoserine phosphatase", "refseq_ac": "NP_004568", "gene_names_uniprotkb": "PSPH", "gene_names_refseq": "PSPHD; PSPH; PSP", "protein_names_uniprotkb": "Phosphoserine phosphatase; 3.1.3.3; L-3-phosphoserine phosphatase; O-phosphoserine phosphohydrolase; PSPase; PSP", "protein_names_refseq": "L-3-phosphoserine phosphatase; O-phosphoserine phosphohydrolase; PSPase; phosphoserine phosphatase", "tax_id": 9606, "disease": "PSPH deficiency (Disease Ontology:DOID:0050724); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:5723); (R-HSA-977347)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "11054547;11237011;12213811;12393813;12633500;12777757;14673469;15193426;15291819;15536068;16120614;16580895;18342636;19235232;1965857;20106978;25080166;25576301;26416733;26703715;28218747;28510447;28904123;29437277;29557506;29632046;30662358;30779550;31205021;31446747;31844290;32157095;32350084;32387766;32488085;32938616;33592498;33674745;33968037;33981976;34171305;34509645;35318648;35580925;36241641;38665916;39531497;9188776;9222972", "class_list": "", "function": "A specific interaction between PSPH and IRS1 and the dephosphorylation of phospho-IRS-1 by PSPH in lung cancer cells, was identified., [RefSeq, PubMed]; Catalyzes the last irreversible step in the biosynthesis of L-serine from carbohydrates, the dephosphorylation of O-phospho-L-serine to L-serine (PubMed:12213811, PubMed:14673469, PubMed:15291819, PubMed:25080166, PubMed:9222972). L-serine can then be used in protein synthesis, to produce other amino acids, in nucleotide metabolism or in glutathione synthesis, or can be racemized to D-serine, a neuromodulator (PubMed:14673469). May also act on O-phospho-D-serine (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; PSPH promotes melanoma growth and metastasis by metabolic deregulation-mediated transcriptional activation of NR4A1., [RefSeq, PubMed]; The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]; The results suggest that PSPH may act as a putative oncogene and a potential therapeutic target in NSCLC. Publication Status: Online-Only, [RefSeq, PubMed]; Three new high-resolution crystal structures of hPSP (1.5-2.0 A) in complexes with phosphoserine and with serine, which are the substrate and the product of the reaction, respectively, and in complex with a noncleavable substrate analogue (homocysteic acid) are presented., [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": 11, "reported_glycation": 0, "reported_snv": 6, "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": "B2RCR5;Q7Z3S5", "ec_number_list": "3.1.3.3", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0036424 L-phosphoserine phosphatase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0031667 response to nutrient levels;GO:0009612 response to mechanical stimulus;GO:0033574 response to testosterone;GO:0006563 L-serine metabolic process;GO:0006564 L-serine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "P78330-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H9B4-1", "uniprot_id": "SFXN1_HUMAN", "mass": 35619.0, "length": 322, "protein_name": "Sideroflexin-1", "gene_name": "SFXN1", "organism": "Human", "refseq_name": "sideroflexin-1 isoform 1", "refseq_ac": "NP_001309906", "gene_names_uniprotkb": "SFXN1", "gene_names_refseq": "SFXN1; SLC56A1; TCC", "protein_names_uniprotkb": "Sideroflexin-1", "protein_names_refseq": "sideroflexin-1 isoform 1; tricarboxylate carrier protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:94081)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;24715725;25418920;26992070;27184847;27846572;27920218;28904123;29557506;30410026;30442778;31844290;32157095;32265295;32350084;32938616;33465208;33592498;33912179;34087483;34171305;34357683;34561969;34725712;34932366;35051231;35083852;35251023;35580925;35878532;36010968;36240223;36241641;37217939;37296228;37938771;38233752;38537539;38665916;38849012;40596516;40914422", "class_list": "", "function": "Amino acid transporter importing serine, an essential substrate of the mitochondrial branch of the one-carbon pathway, into mitochondria. Mitochondrial serine is then converted to glycine and formate, which exits to the cytosol where it is used to generate the charged folates that serve as one-carbon donors (PubMed:30442778). May also transport other amino acids including alanine and cysteine (PubMed:30442778)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Comprehensive analysis the prognostic and immune characteristics of mitochondrial transport-related gene SFXN1 in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of SFXN1 mitigates lipotoxicity and predicts poor outcome in non-viral hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of SFXN1 indicates poor prognosis and promotes tumor progression in lung adenocarcinoma., [RefSeq, PubMed]; SFXN1-mediated immune cell infiltration and tumorigenesis in lung adenocarcinoma: A potential therapeutic target., [RefSeq, PubMed]; Sideroflexin-1 promotes progression and sensitivity to lapatinib in triple-negative breast cancer by inhibiting TOLLIP-mediated autophagic degradation of CIP2A., [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": 13, "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": "B3KPW3;D3DQN2;Q9HA53", "ec_number_list": "", "go_molecular_function": "GO:0015180 L-alanine transmembrane transporter activity;GO:0022857 transmembrane transporter activity;GO:0015194 L-serine transmembrane transporter activity;GO:0015075 monoatomic ion transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0015825 L-serine transport;GO:0006730 one-carbon metabolic process;GO:0015808 L-alanine transport;GO:0140300 serine import into mitochondrion;GO:0006865 amino acid transport", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9H9B4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NFE2-1", "uniprot_id": "SMCO2_HUMAN", "mass": 39487.0, "length": 343, "protein_name": "Single-pass membrane and coiled-coil domain-containing protein 2", "gene_name": "SMCO2", "organism": "Human", "refseq_name": "single-pass membrane and coiled-coil domain-containing protein 2 isoform 1", "refseq_ac": "NP_001138482", "gene_names_uniprotkb": "SMCO2; C12orf70", "gene_names_refseq": "C12orf70; SMCO2", "protein_names_uniprotkb": "Single-pass membrane and coiled-coil domain-containing protein 2", "protein_names_refseq": "single-pass membrane and coiled-coil domain-containing protein 2 isoform 1; single-pass membrane and coiled-coil domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:341346)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;28411811;29557506;34561969;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": 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_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A6NFE2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P18827-1", "uniprot_id": "SDC1_HUMAN", "mass": 32462.0, "length": 310, "protein_name": "Syndecan-1", "gene_name": "SDC1", "organism": "Human", "refseq_name": "syndecan-1 precursor", "refseq_ac": "NP_001006947", "gene_names_uniprotkb": "SDC1; SDC", "gene_names_refseq": "CD138; SDC1; SDC; SYND1; syndecan", "protein_names_uniprotkb": "Syndecan-1; SYND1", "protein_names_refseq": "CD138 antigen; heparan sulfate proteoglycan fibroblast growth factor receptor; syndecan proteoglycan 1; syndecan-1 precursor", "tax_id": 9606, "disease": "familial hyperlipidemia (Disease Ontology:DOID:1168); lung adenocarcinoma (Disease Ontology:DOID:3910); hyperglycemia (Disease Ontology:DOID:4195); proteinuria (Disease Ontology:DOID:576); myocardial infarction (Disease Ontology:DOID:5844); Hodgkin's lymphoma (Disease Ontology:DOID:8567); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:6382); (R-HSA-1971475); (R-HSA-2022928); (R-HSA-2024096); (R-HSA-202733); (R-HSA-3000170); (R-HSA-3560783); (R-HSA-3560801); (R-HSA-3656237); (R-HSA-3656253); (R-HSA-4420332); (R-HSA-449836); (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": 20, "publication_count": 398, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10026158;10052934;10318803;10395686;10438516;10446189;10466419;10473568;10480354;10506123;10606205;10639137;10644753;10677367;10716625;10764623;10769148;10842173;11027606;11035113;11060341;11087757;11099377;11169766;11181758;11207550;11237011;11238108;11256994;11274177;11274389;11279150;11337487;11390981;11391482;11477410;11551958;11564780;11607032;11747608;11779189;11812992;11833835;11877387;12052963;12070135;12138164;12208882;12213822;12441129;12469115;12469119;12492399;12522689;12558796;12682107;12782713;1279089;12907439;12927802;12975610;1339431;14519844;14529530;14615387;14681059;14762106;14976204;14976261;14982929;14993226;15000751;15010527;15082721;15084397;15098107;15140961;15163706;15177497;15211654;15294915;15358783;1542003;15461586;15474033;15479743;15507651;15528364;15583000;15607426;15647514;15681301;15721307;15838506;1591491;16007225;16151907;16161994;1618828;16200213;16258728;16297198;16343444;16488976;16492764;16585556;16619025;16691243;16737840;16783819;16939223;16945929;16960811;16962401;17033958;17064312;17099249;17116209;17167768;17172599;17194707;17314405;17322099;17379836;17442946;17452516;17505016;17506785;17525477;17525755;17563375;17580308;17598008;17600130;17615384;17625065;17635713;17644776;18006945;18083107;18087047;18266465;18295589;18420935;18460466;18467591;18507396;1856611;1874730;19014918;1902833;19139408;19279206;19297154;1930190;19344451;1946389;19473117;19901323;2040636;20410276;20427285;20554947;20560209;20560210;20576607;20650889;20691685;21068237;21106934;21193412;2122463;21325420;2147944;21659548;21700882;21716315;21763480;21851338;21911577;21932952;22090124;22144186;2248955;22496216;22618708;22652793;22660413;2271516;22786881;22810237;22816037;23006890;23084921;23105391;23186163;2324102;23291588;23395182;23584533;23621622;23656592;23658209;23664117;23664118;23683607;23744080;2384594;23945545;24043627;24074594;24106281;24227843;24425863;24443026;24554904;24715725;24764293;24935722;2538457;25418920;25502872;25521717;25576301;25662098;25713144;25813380;25854864;25855704;26056282;26092250;26095744;26212330;26311884;26375851;26468529;26953343;2704749;27108190;271951;27277342;27550352;27832191;2793848;28132690;28148688;29393594;29419409;29427996;29437578;29485866;29557506;29610346;2963012;29742433;29902443;30459171;30471091;3052293;30599162;30833945;30918026;31003762;31262782;31439947;31720911;32125455;32142651;32157095;32179150;32337544;32362314;32512386;32532959;32574038;32653452;32703818;3275472;32938616;32970989;32995803;33082293;33082294;33159882;33177556;33298900;33493182;33493263;33494095;33554856;33774649;33968037;33981976;34023935;34078123;34087483;34159616;34179075;34235261;34235568;34324210;34357683;34431042;34433824;34510494;34542788;34561887;34611326;34732583;34782609;34929169;35215846;3527261;35343766;35580925;35676258;36010968;36102648;36213313;36284347;36951953;3714052;37217939;3744129;37726033;37925034;38011327;38272329;3863104;38686489;38762781;39304942;3942763;4345202;468991;5057882;5675424;6323392;6420172;6496574;6961410;6980899;7493035;7499257;7509040;7521878;7550340;7601448;7615501;7683668;7711731;7805849;8017323;8144529;8163559;8166770;8314844;8384721;8578528;8598903;8609172;8639673;8639781;8728311;8776591;8782816;8894688;8981950;9050911;9052782;9115237;9169435;9169774;9218519;9242610;9285796;9295288;9326317;9346953;9382878;9422780;9459334;9463333;9469622;9506957;9535912;9620772;9693095;9763524;9888420;9892646;9915799;9920938;9925661;9931503;9988767", "class_list": "glycogene", "function": "Cell surface proteoglycan that contains both heparan sulfate and chondroitin sulfate and that links the cytoskeleton to the interstitial matrix (By similarity). Regulates exosome biogenesis in concert with SDCBP and PDCD6IP (PubMed:22660413). Able to induce its own expression in dental mesenchymal cells and also in the neighboring dental epithelial cells via an MSX1-mediated pathway (By similarity)., [UniProtKB, PubMed, UniProtKB]; Neutrophil Extracellular Traps Are Induced by Coronavirus 2019 Disease-Positive Patient Plasma and Persist Longitudinally: A Possible Link to Endothelial Dysfunction as Measured by Syndecan-1., [RefSeq, PubMed]; Serum syndecan1 has the potential to reflect activity at diagnosis and predict death during follow-up in patients with ANCA-associated vasculitis. Publication Status: Online-Only, [RefSeq, PubMed]; Sirt7/HIC1 complex participates in hyperglycaemia-mediated EndMT via modulation of SDC1 expression in diabetic kidney disease and metabolic memory., [RefSeq, PubMed]; Soluble Endoglin and Syndecan-1 levels predicts the clinical outcome in COVID-19 patients., [RefSeq, PubMed]; The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-1 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-1 expression has been detected in several different tumor types. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same protein. [provided by RefSeq, Jul 2008]., [RefSeq]; The significance of Syndecan 1, a new marker for endothelial dysfunction, in cases of fetal growth retardation., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 1, "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": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 49, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 50, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 50, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 418, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 7, "glyco_site_count": 53, "binding_glycan_count": 0, "secondary_ac_list": "D6W523;Q53QV0;Q546D3;Q96HB7", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0038024 cargo receptor activity", "go_cellular_component": "GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0016477 cell migration;GO:0006898 receptor-mediated endocytosis;GO:1903543 positive regulation of exosomal secretion;GO:1903553 positive regulation of extracellular exosome assembly;GO:0048627 myoblast development", "synthesized_glycan_count": 0, "hit_score": 45.7, "record_id": "P18827-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UPN9-1", "uniprot_id": "TRI33_HUMAN", "mass": 122533.0, "length": 1127, "protein_name": "E3 ubiquitin-protein ligase TRIM33", "gene_name": "TRIM33", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM33 isoform alpha", "refseq_ac": "NP_056990", "gene_names_uniprotkb": "TRIM33; KIAA1113; RFG7; TIF1G", "gene_names_refseq": "DDH4; ECTO; PTC7; RFG7; TF1G; TIF1GAMMA; TIF1G; TIFGAMMA; TRIM33", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM33; 2.3.2.27; Ectodermin homolog; Protein Rfg7; RET-fused gene 7 protein; RING-type E3 ubiquitin transferase TRIM33; TIF1-gamma; Transcription intermediary factor 1-gamma; Tripartite motif-containing protein 33", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM33 isoform alpha; E3 ubiquitin-protein ligase TRIM33; RET-fused gene 7 protein; RING-type E3 ubiquitin transferase TRIM33; TIF1-gamma; ectodermin homolog; protein Rfg7; transcriptional intermediary factor 1 gamma", "tax_id": 9606, "disease": "developmental dysplasia of the hip 4 (MONDO:MONDO:0979872)", "pathway": " (hsa:51592); (R-HSA-2173795); (R-HSA-9754189)", "pathway_count": 3, "publication_count": 150, "publication_id_list": "10022127;10197981;10199400;10439047;10485843;10531062;10535941;10549282;10587642;10587654;11237011;11331580;11389444;11427533;12096914;15110706;15820681;16156666;16751101;16751102;17068183;17322306;17344846;17438144;17510063;17591695;17592128;18042803;18452278;18550259;18568018;18669648;18729794;18767875;19135894;19415658;19608861;19651622;19917253;20068231;21095583;21245162;21406692;22045334;23186163;23481700;24129315;24714562;25114211;25218447;25418920;25576301;25593309;25639486;25645385;25693565;25755297;25772364;25880248;25892735;25921273;25936800;26154972;26375851;26728094;26811146;26929215;26992070;27153775;27600516;27846572;28352266;28510447;28649982;28832583;28834231;28904123;29234012;29237092;29242379;29331515;29371260;29393594;29493099;29557506;29577978;29632046;29786170;30315122;30379171;30429286;30484775;30524438;31154438;31844290;32119511;32157095;32265295;32357974;32387766;32448362;32574038;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34509645;34725712;34932366;35051231;35083852;35132862;35138101;35254053;35318648;35513511;35580925;36010968;36215666;36241641;36284347;37541260;37859625;37938771;38270141;38627415;38665916;38909931;39054052;39389957;39531497;39534244;40914422;9417125", "class_list": "", "function": "Acts as an E3 ubiquitin-protein ligase. Promotes SMAD4 ubiquitination, nuclear exclusion and degradation via the ubiquitin proteasome pathway. According to PubMed:16751102, does not promote a decrease in the level of endogenous SMAD4. May act as a transcriptional repressor. Inhibits the transcriptional response to TGF-beta/BMP signaling cascade. Plays a role in the control of cell proliferation. Its association with SMAD2 and SMAD3 stimulates erythroid differentiation of hematopoietic stem/progenitor (By similarity). Monoubiquitinates SMAD4 and acts as an inhibitor of SMAD4-dependent TGF-beta/BMP signaling cascade (Monoubiquitination of SMAD4 hampers its ability to form a stable complex with activated SMAD2/3 resulting in inhibition of TGF-beta/BMP signaling cascade)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; TIF1alpha interacts with TIF1gamma and the coiled-coil region of TIF1gamma is necessary for this interaction., [RefSeq, PubMed]; TIF1gamma and SMAD4 regulation in colorectal cancer: impact on cell proliferation and liver metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM33 enhances the ubiquitination of TFRC to enhance the susceptibility of liver cancer cells to ferroptosis., [RefSeq, PubMed]; TRIM33 loss in multiple myeloma is associated with genomic instability and sensitivity to PARP inhibitors. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM33 promotes glycolysis through regulating P53 K48-linked ubiquitination to promote esophageal squamous cell carcinoma growth. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is thought to be a transcriptional corepressor. However, molecules that interact with this protein have not yet been identified. The protein is a member of the tripartite motif family. This motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Three alternatively spliced transcript variants for this gene have been described, however, the full-length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Thus, Smad2/3-TIF1gamma and Smad2/3-Smad4 function as complementary effector arms in the control of hematopoietic cell fate by the TGFbeta/Smad pathway., [RefSeq, PubMed]; Tripartite motif containing 33 demonstrated anticancer effect by degrading c-Myc: Limitation of glutamine metabolism and proliferation in endometrial carcinoma 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": 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": 10, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "O95855;Q5TG72;Q5TG73;Q5TG74;Q9C017;Q9UJ79", "ec_number_list": "2.3.2.27", "go_molecular_function": "GO:0070410 co-SMAD binding;GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0031981 nuclear lumen", "go_biological_process": "GO:0017015 regulation of transforming growth factor beta receptor signaling pathway;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0030514 negative regulation of BMP signaling pathway", "synthesized_glycan_count": 0, "hit_score": 15.9, "record_id": "Q9UPN9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y3D9-1", "uniprot_id": "RT23_HUMAN", "mass": 21771.0, "length": 190, "protein_name": "Small ribosomal subunit protein mS23", "gene_name": "MRPS23", "organism": "Human", "refseq_name": "small ribosomal subunit protein mS23", "refseq_ac": "NP_057154", "gene_names_uniprotkb": "MRPS23; CGI-138; HSPC329", "gene_names_refseq": "CGI-138; COXPD46; HSPC329; MRP-S23; MRPS23; mS23", "protein_names_uniprotkb": "Small ribosomal subunit protein mS23; 28S ribosomal protein S23, mitochondrial; MRP-S23; S23mt", "protein_names_refseq": "28S ribosomal protein S23, mitochondrial; S23mt; mitochondrial small ribosomal subunit protein mS23; small ribosomal subunit protein mS23", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 46 (Disease Ontology:DOID:0112115)", "pathway": " (hsa:51649); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 62, "publication_id_list": "10938081;11237011;11543634;15358359;17803939;18429816;18782833;19524667;19608861;19716793;20068231;20112406;20186120;20877624;21907147;22172991;2250005;25233460;25838379;26741492;27029019;27600516;27846572;28063628;28510447;28832583;28892042;28904123;29242379;29393594;29557506;29632046;30192525;31844290;31848261;32157095;32265295;32350084;32387766;32938616;33141586;33243891;33298915;33465208;33878294;33912179;33964376;33968037;33981976;34229054;34561969;35580925;35962848;36010968;36241641;36302763;36596788;37141370;37217939;38086984;38301044;40596516", "class_list": "", "function": "Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder. Publication Status: Online-Only, [RefSeq, PubMed]; MRPS23 is a novel prognostic biomarker and promotes glioma progression., [RefSeq, PubMed]; Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 7p. [provided by RefSeq, Jul 2008]., [RefSeq]; Mitochondrial ribosomal small subunit (MRPS) MRPS23 protein-protein interaction reveals phosphorylation by CDK11-p58 affecting cell proliferation and knockdown of MRPS23 sensitizes breast cancer cells to CDK1 inhibitors., [RefSeq, PubMed]; Mitochondrial ribosomal small subunit proteins (MRPS) MRPS6 and MRPS23 show dysregulation in breast cancer affecting tumorigenic cellular processes., [RefSeq, PubMed]; Observational 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": 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": 4, "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": "B2R6V3;Q96Q24;Q9BWH8;Q9P053", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005840 ribosome;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0032543 mitochondrial translation;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9Y3D9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TE82-1", "uniprot_id": "S3TC1_HUMAN", "mass": 146961.0, "length": 1336, "protein_name": "SH3 domain and tetratricopeptide repeat-containing protein 1", "gene_name": "SH3TC1", "organism": "Human", "refseq_name": "SH3 domain and tetratricopeptide repeat-containing protein 1 isoform 2", "refseq_ac": "NP_001305409", "gene_names_uniprotkb": "SH3TC1", "gene_names_refseq": "SH3TC1", "protein_names_uniprotkb": "SH3 domain and tetratricopeptide repeat-containing protein 1", "protein_names_refseq": "SH3 domain and tetratricopeptide repeat-containing protein 1 isoform 2; SH3 domain and tetratricopeptide repeat-containing protein 1; SH3 domain and tetratricopeptide repeats-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54436)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;16959974;19240061;19690332;22424782;23481700;24715725;25576301;25645385;26992070;27846572;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29437277;29493099;29557506;30315122;30379171;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33717175;33936100;33981976;34509645;34932366;35051231;36010968", "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": 1, "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": "Q4W5G5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q8TE82-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01242-1", "uniprot_id": "SOM2_HUMAN", "mass": 25000.0, "length": 217, "protein_name": "Growth hormone variant", "gene_name": "GH2", "organism": "Human", "refseq_name": "growth hormone variant isoform 1 precursor", "refseq_ac": "NP_002050", "gene_names_uniprotkb": "GH2", "gene_names_refseq": "GH-V; GH2; GHB2; GHL; GHV; hGH-V", "protein_names_uniprotkb": "Growth hormone variant; GH-V; Growth hormone 2; Placenta-specific growth hormone", "protein_names_refseq": "growth hormone B2; growth hormone variant isoform 1 precursor; placenta-specific growth hormone; placental-specific growth hormone", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); isolated growth hormone deficiency type II (Disease Ontology:DOID:0060872); osteoporosis (Disease Ontology:DOID:11476); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:2689); (R-HSA-1170546); (R-HSA-982772)", "pathway_count": 3, "publication_count": 31, "publication_id_list": "10393484;11237011;12907755;15082796;1549776;15767667;16546209;16840534;18473352;18488018;19054851;1948064;19927328;20053995;2196278;22489624;22649370;24035309;2460050;26589570;2744760;2825030;3349036;3379057;7169009;7691587;8188682;8343952;9030599;9058373;9709963", "class_list": "", "function": "Genetic association studies in populations in Estonia, Czech Republic, and Bashkortostan/Russia: Data suggest an SNP in GH2 (rs2006123) is associated with adult height (not body mass index); A-allele is associated with taller stature. [META-ANALYSIS], [RefSeq, PubMed]; Maternal serum PGH at 11-13 weeks' gestation is unlikely to be a useful biochemical marker for early prediction of small for gestational age neonates., [RefSeq, PubMed]; Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues., [UniProtKB]; The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. As in the case of its pituitary counterpart, growth hormone 1, the predominant isoform of this particular family member shows similar somatogenic activity, with reduced lactogenic activity. Mutations in this gene lead to placental growth hormone/lactogen deficiency. [provided by RefSeq, Jul 2008]., [RefSeq]; Type 1 diabetic women delivering large for gestational age infants had lower placental GH levels in early pregnancy., [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": 11, "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": "B1A4H5;B1A4H7;O14643;O14644;P09587", "ec_number_list": "", "go_molecular_function": "GO:0005179 hormone activity;GO:0008083 growth factor activity;GO:0005131 growth hormone receptor binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031904 endosome lumen", "go_biological_process": "GO:0031667 response to nutrient levels;GO:0046427 positive regulation of receptor signaling pathway via JAK-STAT;GO:0048513 animal organ development;GO:0060396 growth hormone receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "P01242-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A1X283-1", "uniprot_id": "SPD2B_HUMAN", "mass": 101579.0, "length": 911, "protein_name": "SH3 and PX domain-containing protein 2B", "gene_name": "SH3PXD2B", "organism": "Human", "refseq_name": "SH3 and PX domain-containing protein 2B isoform a", "refseq_ac": "NP_001017995", "gene_names_uniprotkb": "SH3PXD2B; FAD49; KIAA1295; TKS4", "gene_names_refseq": "FAD49; FTHS; HOFI; KIAA1295; SH3PXD2B; TKS4; TSK4", "protein_names_uniprotkb": "SH3 and PX domain-containing protein 2B; Adapter protein HOFI; Factor for adipocyte differentiation 49; Tyrosine kinase substrate with four SH3 domains", "protein_names_refseq": "SH3 and PX domain-containing protein 2B isoform a; adapter protein HOFI; adaptor protein HOFI; factor for adipocyte differentiation 49; tyrosine kinase substrate with four SH3 domains", "tax_id": 9606, "disease": "Frank-Ter Haar syndrome (Disease Ontology:DOID:0111789); otitis media (Disease Ontology:DOID:10754); glaucoma (Disease Ontology:DOID:1686)", "pathway": " (hsa:285590)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12615925;18083107;18578522;18669648;18959745;19228371;19651622;19755710;19807924;20068231;20137777;20609497;20943948;24129315;27600516;29393594;29557506;30429286;31844290;32157095;32387766;33592498;33912179;34171305;34509645;35051231;35580925;36010968;37211344;37894817;38665916;38672463;38985526", "class_list": "", "function": "Adapter protein involved in invadopodia and podosome formation and extracellular matrix degradation. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. Plays a role in mitotic clonal expansion during the immediate early stage of adipocyte differentiation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed]; Comprehensive bioinformatics and experimental analysis of SH3PXD2B reveals its carcinogenic effect in gastric carcinoma., [RefSeq, PubMed]; Morphological Changes Induced by TKS4 Deficiency Can Be Reversed by EZH2 Inhibition in Colorectal Carcinoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Studying the Association of TKS4 and CD2AP Scaffold Proteins and Their Implications in the Partial Epithelial-Mesenchymal Transition (EMT) Process. Publication Status: Online-Only, [RefSeq, PubMed]; These findings establish a role for TKS4 in Frank-Ter Haar syndrome and embryonic development., [RefSeq, PubMed]; This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]., [RefSeq]; Unveiling epithelial plasticity regulation in lung cancer: Exploring the cross-talk among Tks4 scaffold protein partners., [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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "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": "B6F0V2;Q9P2Q1", "ec_number_list": "", "go_molecular_function": "GO:0010314 phosphatidylinositol-5-phosphate binding;GO:0042169 SH2 domain binding;GO:0080025 phosphatidylinositol-3,5-bisphosphate binding;GO:0032266 phosphatidylinositol-3-phosphate binding;GO:0016176 superoxide-generating NADPH oxidase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0002102 podosome", "go_biological_process": "GO:0007507 heart development;GO:0022617 extracellular matrix disassembly;GO:0030154 cell differentiation;GO:0060612 adipose tissue development;GO:0001501 skeletal system development", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "A1X283-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43291-1", "uniprot_id": "SPIT2_HUMAN", "mass": 28228.0, "length": 252, "protein_name": "Kunitz-type protease inhibitor 2", "gene_name": "SPINT2", "organism": "Human", "refseq_name": "kunitz-type protease inhibitor 2 isoform b precursor", "refseq_ac": "NP_001159575", "gene_names_uniprotkb": "SPINT2; HAI2; KOP", "gene_names_refseq": "DIAR3; HAI-2; HAI2; Kop; PB; SPINT2", "protein_names_uniprotkb": "Kunitz-type protease inhibitor 2; HAI-2; Hepatocyte growth factor activator inhibitor type 2; Placental bikunin", "protein_names_refseq": "HGF activator inhibitor 2; Kunitz domain containing protein overexpressed in pancreatic cancer; hepatocyte growth factor activator inhibitor type 2; hepatocyte growth factor activator inhibitor-2; kunitz-type protease inhibitor 2 isoform b precursor; kunitz-type protease inhibitor 2; serine protease inhibitor, Kunitz type, 2; testicular tissue protein Li 183", "tax_id": 9606, "disease": "congenital secretory sodium diarrhea 3 (Disease Ontology:DOID:0060781); biliary atresia (Disease Ontology:DOID:13608)", "pathway": " (hsa:10653); (R-HSA-6806942); (R-HSA-8852405)", "pathway_count": 3, "publication_count": 80, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;12553733;12726861;1280830;15167892;15218027;15301554;15324701;15340161;15632155;15713485;15792801;16537482;1655790;1885621;19185281;20009592;20228799;20545605;20726546;20977675;21875933;22087277;23090970;23584533;24142340;24190977;24409221;25193665;25576301;27846572;27920218;28467828;28710277;28716867;28832583;29242379;29314611;29557506;29575628;30445423;30459171;30779550;31848261;32350084;32983136;33968037;33981976;34019948;34087483;34381422;34562451;34962618;35051231;35318648;35580925;36241641;36284347;37074911;37217939;38271183;41018975;7513258;7651534;7708691;7854452;7854453;8197126;8208547;8302603;8346233;9045658;9115294;9140397;9202013;9346890;9434156;9657372", "class_list": "", "function": "Comprehensive Analysis of the Expression and Prognostic Value of SPINT1/2 in Breast Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibitor of HGFAC (PubMed:9346890). Also inhibits plasmin, and plasma and tissue kallikrein (PubMed:9115294). Inhibits serine protease activity of TMPRSS13 (PubMed:20977675, PubMed:28710277). Inhibits serine protease activity of ST14/matriptase and PRSS8/prostasin in vitro (PubMed:28710277, PubMed:30445423)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Loss of USP28 and SPINT2 expression promotes cancer cell survival after whole genome doubling., [RefSeq, PubMed]; SPINT2 mutations in the Kunitz domain 2 found in SCSD patients inactivate HAI-2 as prostasin inhibitor via abnormal protein folding and N-glycosylation., [RefSeq, PubMed]; There is a distinct regulation of hepatocyte growth factor activator inhibitor type 2 gene expression in testis and that HAI-2 may play a role in the process of spermatogenesis, [RefSeq, PubMed]; This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [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": 2, "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": 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": 0, "reported_glycation": 0, "reported_snv": 18, "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": "A8K667;B4DLU1;O00271;O14895;Q5TZQ3;Q969E0", "ec_number_list": "", "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0004866 endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0022408 negative regulation of cell-cell adhesion;GO:0003382 epithelial cell morphogenesis;GO:2000146 negative regulation of cell motility;GO:0007163 establishment or maintenance of cell polarity", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "O43291-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96I15-1", "uniprot_id": "SCLY_HUMAN", "mass": 48149.0, "length": 445, "protein_name": "Selenocysteine lyase", "gene_name": "SCLY", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "SCLY; SCL", "gene_names_refseq": "", "protein_names_uniprotkb": "Selenocysteine lyase; 4.4.1.16; hSCL", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:51540); (R-HSA-2408508)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10692412;11237011;11578145;1483038;16037612;16444005;16874457;1711890;17451884;20068231;20164179;20383543;23301498;2339986;25892735;26154972;26992070;27846572;27893789;28063628;28218747;28228285;28832583;28904123;29242379;29437277;29557506;29632046;29769354;29789417;30410026;31844290;32157095;32350084;32357974;32502341;32983136;33141586;33298915;33717175;33936100;33968037;33981976;34211107;34357683;34561969;34932366;35051231;36010968;36241641;6456763;7305945", "class_list": "", "function": "Catalyzes the decomposition of L-selenocysteine to L-alanine and elemental selenium., [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": 1, "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": "B9A068;J3KN06;Q53SN1;Q53SN8;Q7L670;Q9NVT7;Q9NZR7", "ec_number_list": "4.4.1.16", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0016597 amino acid binding;GO:0016740 transferase activity;GO:0009000 selenocysteine lyase activity;GO:0070279 vitamin B6 binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:1902494 catalytic complex", "go_biological_process": "GO:0006520 amino acid metabolic process;GO:0016261 selenocysteine catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q96I15-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NSN8-1", "uniprot_id": "SNTG1_HUMAN", "mass": 57969.0, "length": 517, "protein_name": "Gamma-1-syntrophin", "gene_name": "SNTG1", "organism": "Human", "refseq_name": "gamma-1-syntrophin isoform 1", "refseq_ac": "NP_001274742", "gene_names_uniprotkb": "SNTG1", "gene_names_refseq": "G1SYN; SNTG1; SYN4", "protein_names_uniprotkb": "Gamma-1-syntrophin; G1SYN; SYN4; Syntrophin-4", "protein_names_refseq": "gamma-1-syntrophin isoform 1; gamma-1-syntrophin; gamma1-syntrophin; syntrophin 4", "tax_id": 9606, "disease": "Duchenne muscular dystrophy (Disease Ontology:DOID:11723)", "pathway": " (hsa:54212)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10747910;11237011;11352924;15088139;21358174;31844290;33863907;35051231;35580925;36010968", "class_list": "", "function": "Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By similarity). May participate in regulating the subcellular location of diacylglycerol kinase-zeta to ensure that diacylglycerol is rapidly inactivated following receptor activation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Brain-specific gamma1-syntrophin participates in gamma-enolase translocation towards the plasma membrane, a pre-requisite for its neurotrophic activity., [RefSeq, PubMed]; Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; Suggests a differentiated role of a modified dystrophin-associated complex in the central nervous system, [RefSeq, PubMed]; The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This family member plays a role in mediating gamma-enolase trafficking to the plasma membrane and in enhancing its neurotrophic activity. Mutations in this gene are associated with idiopathic scoliosis. Alternatively spliced transcript variants have been found for this gene. [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": 0, "reported_glycation": 0, "reported_snv": 16, "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": "Q2M3Q0;Q9NY98", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0016010 dystrophin-associated glycoprotein complex;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:0007154 cell communication;GO:0099536 synaptic signaling", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9NSN8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6IA17-1", "uniprot_id": "SIGIR_HUMAN", "mass": 45679.0, "length": 410, "protein_name": "Single Ig IL-1-related receptor", "gene_name": "SIGIRR", "organism": "Human", "refseq_name": "single Ig IL-1-related receptor", "refseq_ac": "NP_001128525", "gene_names_uniprotkb": "SIGIRR; PRO342", "gene_names_refseq": "IL-1R8; SIGIRR; TIR8", "protein_names_uniprotkb": "Single Ig IL-1-related receptor; Single Ig IL-1R-related molecule; Single immunoglobulin domain-containing IL1R-related protein; TIR8; Toll/interleukin-1 receptor 8", "protein_names_refseq": "single Ig IL-1-related receptor; single Ig IL-1R-related molecule; single immunoglobulin and toll-interleukin 1 receptor (TIR) domain; single immunoglobulin domain IL1R1 related; single immunoglobulin domain-containing IL1R-related protein; toll/interleukin-1 receptor 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:59307); (R-HSA-166058); (R-HSA-9008059)", "pathway_count": 3, "publication_count": 79, "publication_id_list": "10.1101/2023.09.13.557529;10346978;10465784;11145836;11237011;11544529;11839743;11960013;12096920;12138165;12140561;12297423;12381835;12447441;12447442;12724322;12809600;12925853;12975309;14625308;14715412;15527767;15585605;15866876;15944945;16024789;16439361;16751103;17141195;17485511;17726518;17878161;17890055;18070880;18070982;18390730;18438411;18829464;19224918;19498957;19509286;19592493;19592497;20485341;20935647;20966070;21077278;21187075;21606490;21993680;22454496;24481253;24840642;25505266;25645385;25729923;25880248;25963006;26375851;26992070;27060871;27600516;28092676;28832583;28904123;29242379;29493099;31844290;32157095;32357974;34036103;34083516;34563711;35051231;35154160;36753974;8837778;9008162;9430229", "class_list": "", "function": "Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Attenuates the recruitment of receptor-proximal signaling components to the TLR4 receptor, probably through an TIR-TIR domain interaction with TLR4. Through its extracellular domain interferes with the heterodimerization of Il1R1 and IL1RAP., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; IL-1R8: A molecular brake of anti-tumor and anti-viral activity of NK cells and ILC. Review article, [RefSeq, PubMed]; IL-37b alleviates endothelial cell apoptosis and inflammation in Kawasaki disease through IL-1R8 pathway. Erratum:[Cell Death Dis. 2021 Aug 2;12(8):759. doi: 10.1038/s41419-021-04044-5. PMID: 34341339] Publication Status: Online-Only, [RefSeq, PubMed]; SIGIRR Mutation in Human Necrotizing Enterocolitis (NEC) Disrupts STAT3-Dependent microRNA Expression in Neonatal Gut., [RefSeq, PubMed]; Single Immunoglobulin IL-1-Related Receptor (SIGIRR) Gene rs7396562 Polymorphism and Expression Level in Rheumatoid Arthritis. Publication Status: Online-Only, [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": 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": 19, "reported_interactions": 0, "missing_score": 9803, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q3KQY2;Q6UXI3;Q9H733", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0001960 negative regulation of cytokine-mediated signaling pathway;GO:2000660 negative regulation of interleukin-1-mediated signaling pathway;GO:0007166 cell surface receptor signaling pathway;GO:0006953 acute-phase response;GO:0031665 negative regulation of lipopolysaccharide-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q6IA17-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NWF4-1", "uniprot_id": "S52A1_HUMAN", "mass": 46317.0, "length": 448, "protein_name": "Solute carrier family 52, riboflavin transporter, member 1", "gene_name": "SLC52A1", "organism": "Human", "refseq_name": "solute carrier family 52, riboflavin transporter, member 1 precursor", "refseq_ac": "NP_001098047", "gene_names_uniprotkb": "SLC52A1; GPR172B; PAR2; RFT1", "gene_names_refseq": "GPCR42; GPR172B; PAR2; RBFVD; RFT1; RFVT1; SLC52A1; hRFT1; huPAR-2", "protein_names_uniprotkb": "Solute carrier family 52, riboflavin transporter, member 1; PERV-A receptor 2; Porcine endogenous retrovirus A receptor 2; Protein GPR172B; Riboflavin transporter 1; hRFT1; huPAR-2", "protein_names_refseq": "G protein-coupled receptor 172B; G-protein coupled receptor GPCR42; PERV-A receptor 2; porcine endogenous retrovirus A receptor 2; riboflavin transporter 1; solute carrier family 52 (riboflavin transporter), member 1; solute carrier family 52, riboflavin transporter, member 1 precursor; solute carrier family 52, riboflavin transporter, member 1", "tax_id": 9606, "disease": "Brown-Vialetto-Van Laere syndrome (Disease Ontology:DOID:0050694); congenital disorder of glycosylation In (Disease Ontology:DOID:0080566); riboflavin deficiency (Disease Ontology:DOID:8454)", "pathway": " (hsa:55065); (R-HSA-196843)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "11237011;12623014;12740431;16643857;18632736;20206331;20463145;21089064;21110228;23481700;24264046;2775236;28190456;28904123;29557506;30156861;30779550;31998317;32161166;33427755;34524871;35051231;37510312;37938771;8001561", "class_list": "", "function": "(Microbial infection) May function as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A)., [UniProtKB, PubMed]; Biological redox reactions require electron donors and acceptor. Vitamin B2 is the source for the flavin in flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) which are common redox reagents. This gene encodes a member of the riboflavin (vitamin B2) transporter family. Haploinsufficiency of this protein can cause maternal riboflavin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]., [RefSeq]; Identification/characterization riboflavin trasporter (RFT1) as a novel riboflavin transporter., [RefSeq, PubMed]; In the in vitro model, exposing Caco-2 cells to tumor necrosis factor-alpha (TNF-alpha) led to a significant inhibition in RF uptake, an effect that was abrogated upon knocking down TNF receptor 1 (TNFR1). The inhibition in RF uptake was associated with a significant reduction in the expression of hRFVT-3 and -1 protein and mRNA levels, as well as in the activity of the SLC52A3 and SLC52A1 promoters, [RefSeq, PubMed]; Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum. Publication Status: Online-Only, [RefSeq, PubMed]; Riboflavin transporter SLC52A1, a target of p53, suppresses cellular senescence by activating mitochondrial complex II., [RefSeq, PubMed]; Whole-exome Sequencing Identifies SLC52A1 and ZNF106 Variants as Novel Genetic Risk Factors for (Early) Multiple-organ Failure in Acute Pancreatitis., [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": 11, "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": "B5MEV1;B5MEV2;Q6P9E0;Q86UT0", "ec_number_list": "", "go_molecular_function": "GO:0001618 virus receptor activity;GO:0032217 riboflavin transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0032218 riboflavin transport;GO:0006771 riboflavin metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9NWF4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NPD5-1", "uniprot_id": "SO1B3_HUMAN", "mass": 77403.0, "length": 702, "protein_name": "Solute carrier organic anion transporter family member 1B3", "gene_name": "SLCO1B3", "organism": "Human", "refseq_name": "solute carrier organic anion transporter family member 1B3 isoform 1", "refseq_ac": "NP_062818", "gene_names_uniprotkb": "SLCO1B3; LST2; OATP1B3; OATP8; SLC21A8", "gene_names_refseq": "HBLRR; LST-2; LST-3TM13; LST3; OATP-8; OATP1B3; OATP8; SLC21A8; SLCO1B3", "protein_names_uniprotkb": "Solute carrier organic anion transporter family member 1B3; LST-2; Liver-specific organic anion transporter 2; OATP-8; OATP1B3; Organic anion transporter 8; Organic anion-transporting polypeptide 8; Solute carrier family 21 member 8", "protein_names_refseq": "liver-specific organic anion transporter 2; liver-specific organic anion transporter 3TM13; organic anion transporter 8; organic anion transporter LST-3c; organic anion-transporting polypeptide 8; solute carrier family 21 (organic anion transporter), member 8; solute carrier organic anion transporter family member 1B3 isoform 1", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); lung cancer (Disease Ontology:DOID:1324); cholestasis (Disease Ontology:DOID:13580); colon carcinoma (Disease Ontology:DOID:1520); colon cancer (Disease Ontology:DOID:219); ovarian cancer (Disease Ontology:DOID:2394); bilirubin metabolic disorder (Disease Ontology:DOID:2741); testicular cancer (Disease Ontology:DOID:2998); breast ductal carcinoma (Disease Ontology:DOID:3007); hepatocellular carcinoma (Disease Ontology:DOID:684); gastrointestinal stromal tumor (Disease Ontology:DOID:9253); Rotor syndrome (MONDO:MONDO:0009379)", "pathway": " (hsa:28234); (R-HSA-159418); (R-HSA-189483); (R-HSA-5619058); (R-HSA-879518); (R-HSA-9754706)", "pathway_count": 6, "publication_count": 98, "publication_id_list": "10334992;10334993;10358072;10421658;10601278;10620517;10644574;10779507;10884298;10987286;11023036;11038166;11134001;11159893;11237011;11316767;11375950;11387316;11397817;1157293;11870371;11950779;11980911;12220224;12351693;12393883;12404239;12404240;12409283;12486725;12568656;12663868;12704183;12815072;13416382;14699511;14993604;15001581;15159445;15245331;15497697;15801541;16317684;16541101;16624871;16627748;16908160;16959974;16971491;17412826;17650074;18720283;19129463;19794410;19797118;20166139;2037576;21278621;21852972;22232210;22326869;22823425;23018617;23243220;23285087;23337244;23394475;23531488;23562342;24799396;25527620;26383540;26412035;26791533;29242379;30343886;31844290;33392160;33912179;33968037;33981976;34045219;35307651;36215666;36241641;36284347;38279097;38641828;39147348;4980931;7077161;7372607;7557095;7588781;8034703;8132774;8787677;9414488", "class_list": "", "function": "Associations between UGT1A1, SLCO1B1, SLCO1B3, BLVRA and HMOX1 polymorphisms and susceptibility to neonatal severe hyperbilirubinemia in Chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; Data show that Rotor syndrome was linked to mutations predicted to cause complete and simultaneous deficiencies of the organic anion transporting polypeptides OATP1B1 and OATP1B3., [RefSeq, PubMed]; Human organic anion transporting polypeptide 1B3 (OATP1B3) is more heavily N-glycosylated than OATP1B1 in extracellular loops 2 and 5., [RefSeq, PubMed]; Isoform specific mRNA quantification showed that the Ct-OATP1B3 mRNA level was strikingly higher than that of Lt-OATP1B3 mRNA in human cancer tissues., [RefSeq, PubMed]; Mediates the Na(+)-independent uptake of organic anions (PubMed:10779507, PubMed:15159445, PubMed:17412826). Shows broad substrate specificity, can transport both organic anions such as bile acid taurocholate (cholyltaurine) and conjugated steroids (17-beta-glucuronosyl estradiol, dehydroepiandrosterone sulfate (DHEAS), and estrone 3-sulfate), as well as eicosanoid leukotriene C4, prostaglandin E2 and L-thyroxine (T4) (PubMed:10779507, PubMed:11159893, PubMed:12568656, PubMed:15159445, PubMed:17412826, PubMed:19129463). Hydrogencarbonate/HCO3(-) acts as the probable counteranion that exchanges for organic anions (PubMed:19129463). Shows a pH-sensitive substrate specificity towards sulfated steroids, taurocholate and T4 which may be ascribed to the protonation state of the binding site and leads to a stimulation of substrate transport in an acidic microenvironment (PubMed:19129463). Involved in the clearance of bile acids and organic anions from the liver (PubMed:22232210). Can take up bilirubin glucuronides from plasma into the liver, contributing to the detoxification-enhancing liver-blood shuttling loop (PubMed:22232210). Transports coproporphyrin I and III, by-products of heme synthesis, and may be involved in their hepatic disposition (PubMed:26383540). May contribute to regulate the transport of organic compounds in testes across the blood-testis-barrier (Probable). Can transport HMG-CoA reductase inhibitors (also known as statins) such as pitavastatin, a clinically important class of hypolipidemic drugs (PubMed:15159445). May play an important role in plasma and tissue distribution of the structurally diverse chemotherapeutic drugs methotrexate and paclitaxel (PubMed:23243220). May also transport antihypertension agents, such as the angiotensin-converting enzyme (ACE) inhibitor prodrug enalapril, and the highly selective angiotensin II AT1-receptor antagonist valsartan, in the liver (PubMed:16624871, PubMed:16627748)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; N6-methyladenosine-modified circSLCO1B3 promotes intrahepatic cholangiocarcinoma progression via regulating HOXC8 and PD-L1. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. Alternative splicing of this gene and the use of alternative promoters results in transcript variants encoding different isoforms that differ in their tissue specificity. [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": 6, "mined_n_glycosites": 6, "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": 2, "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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 9737, "biomarker_type": "", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "E7EMT8;Q5JAR4", "ec_number_list": "", "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0022857 transmembrane transporter activity;GO:0015125 bile acid transmembrane transporter activity;GO:0015291 secondary active transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0009925 basal plasma membrane", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0015721 bile acid and bile salt transport;GO:0006805 xenobiotic metabolic process;GO:0015711 organic anion transport;GO:0043252 sodium-independent organic anion transport", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q9NPD5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y694-1", "uniprot_id": "S22A7_HUMAN", "mass": 60026.0, "length": 548, "protein_name": "Solute carrier family 22 member 7", "gene_name": "SLC22A7", "organism": "Human", "refseq_name": "solute carrier family 22 member 7 isoform a", "refseq_ac": "NP_006663", "gene_names_uniprotkb": "SLC22A7; NLT; OAT2", "gene_names_refseq": "NLT; OAT2; SLC22A7; hOAT11", "protein_names_uniprotkb": "Solute carrier family 22 member 7; NLT; Novel liver transporter; Organic anion transporter 2; hOAT2", "protein_names_refseq": "hOAT2; liver-specific transporter; novel liver transporter; organic anion transporter 11; organic anion transporter 2; solute carrier family 22 (organic anion transporter), member 7; solute carrier family 22 member 7 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:10864)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;11327718;11855680;11907186;12023506;15901346;18077418;18216183;19159218;21446918;25904762;26377792;26500550;28945155;29557506;29906129;30135178;31154438;32001236;32081926;33968037;34171305;34509645;35051231;36010968;37074911", "class_list": "", "function": "Elucidation of the molecular mechanism for renal tetracycline transport by human organic anion transporters (hOATs) using proximal tubular cells stably expressing hOATs, [RefSeq, PubMed]; Functions as a Na(+)-independent bidirectional multispecific transporter (PubMed:11327718, PubMed:18216183, PubMed:21446918, PubMed:28945155). Contributes to the renal and hepatic elimination of endogenous organic compounds from the systemic circulation into the urine and bile, respectively (PubMed:11327718, PubMed:25904762). Capable of transporting a wide range of purine and pyrimidine nucleobases, nucleosides and nucleotides, with cGMP, 2'deoxyguanosine and GMP being the preferred substrates (PubMed:11327718, PubMed:18216183, PubMed:26377792, PubMed:28945155). Functions as a pH- and chloride-independent cGMP bidirectional facilitative transporter that can regulate both intracellular and extracellular levels of cGMP and may be involved in cGMP signaling pathways (PubMed:18216183, PubMed:26377792). Mediates orotate/glutamate bidirectional exchange and most likely display a physiological role in hepatic release of glutamate into the blood (PubMed:21446918). Involved in renal secretion and possible reabsorption of creatinine (PubMed:25904762, PubMed:28945155). Able to uptake prostaglandin E2 (PGE2) and may contribute to PGE2 renal excretion (Probable). Also transports alpha-ketoglutarate and urate (PubMed:11327718, PubMed:26377792). Apart from the orotate/glutamate exchange, the counterions for the uptake of other SLC22A7/OAT2 substrates remain to be identified (PubMed:26377792)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Involved in the uptake of prostaglandin F2-alpha (PGF2-alpha)., [UniProtKB, PubMed]; Large interindividual variability was noted in the hepatic expression of OAT2 (16-fold in human liver tissue and 23-fold in hepatocytes). OAT7, on the other hand, showed less interindividual variability (4-fold) in the livers, but high variability for the hepatocyte lots (27-fold). A significant positive correlation in OAT2 and OAT7 expression was observed, but expression levels were neither associated with age nor sex., [RefSeq, PubMed]; Nicotinic acid transport into human liver involves organic anion transporter 2 (SLC22A7)., [RefSeq, PubMed]; Non functional transporter., [UniProtKB, PubMed, PubMed]; Plasma microRNA profiles: identification of miR-1229-3p as a novel chemoresistant and prognostic biomarker in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; The role of OAT2-mediated hepatic uptake in determining the pharmacokinetics of several clinically important ECCS 1A drugs., [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": 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": 20, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2CZX6;Q5T046;Q5T048;Q5T050;Q9H2W5", "ec_number_list": "", "go_molecular_function": "GO:0015139 alpha-ketoglutarate transmembrane transporter activity;GO:0022857 transmembrane transporter activity;GO:0015291 secondary active transmembrane transporter activity;GO:0015132 prostaglandin transmembrane transporter activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0006805 xenobiotic metabolic process;GO:0015711 organic anion transport;GO:0043252 sodium-independent organic anion transport;GO:0015742 alpha-ketoglutarate transport", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9Y694-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6STE5-1", "uniprot_id": "SMRD3_HUMAN", "mass": 55016.0, "length": 483, "protein_name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3", "gene_name": "SMARCD3", "organism": "Human", "refseq_name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 isoform 2", "refseq_ac": "NP_001003801", "gene_names_uniprotkb": "SMARCD3; BAF60C", "gene_names_refseq": "BAF60C; CRACD3; Rsc6p; SMARCD3", "protein_names_uniprotkb": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3; 60 kDa BRG-1/Brm-associated factor subunit C; BAF60C; BRG1-associated factor 60C", "protein_names_refseq": "60 kDa BRG-1/Brm-associated factor subunit C; SWI/SNF complex 60 kDa subunit C; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 isoform 2; Swp73-like protein; chromatin remodeling complex BAF60C subunit; mammalian chromatin remodeling complex BRG1-associated factor 60C", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); Coffin-Siris syndrome (Disease Ontology:DOID:1925)", "pathway": " (hsa:6604); (R-HSA-1368108); (R-HSA-1989781); (R-HSA-2151201); (R-HSA-2426168); (R-HSA-3214858); (R-HSA-381340); (R-HSA-400206); (R-HSA-8939243); (R-HSA-9707564); (R-HSA-9707616); (R-HSA-9824585); (R-HSA-9845323); (R-HSA-9931509); (R-HSA-9933387); (R-HSA-9933939); (R-HSA-9933946); (R-HSA-9933947); (R-HSA-9934037)", "pathway_count": 19, "publication_count": 301, "publication_id_list": "10075656;10078207;10198158;10381560;10400691;10412986;10425206;10494028;10529898;10587587;10643692;10713165;10759542;10777541;11018023;11095972;11162494;11226238;11237011;11241162;11267664;11330046;11340167;11341840;11387216;11414710;11448779;11532965;11747826;11751582;11756452;11779144;11809803;11856727;11872672;11964381;12062444;12083769;12118000;12130498;12130638;12177166;12213831;12356737;12368262;12374852;12377782;12406875;12505311;12511571;12563009;12582161;12738229;12745923;12764144;12829629;12969439;1321344;1377680;14672706;14701856;14980219;15067378;15130092;15175654;15273253;1537333;1537334;15485929;15500444;15543135;15560782;15635043;15640446;15665827;15684387;15695812;15729346;15761026;15850785;15919796;15985610;16079181;16079853;16265664;16303920;16380219;16476485;16503871;16568091;16788062;16857194;16890199;16908542;16911507;16917507;16972786;17007889;17011499;17031457;17081983;17182843;17215844;17264172;17306620;17437997;17449569;17498659;17640523;17715127;17898714;17923681;17925399;17952075;17980149;18006707;18037887;18079182;18215119;18288277;18292238;18343819;18404153;18483556;18540824;18559965;18587630;18654640;18680753;18682402;18695000;18697795;18719978;18726356;18765789;18809673;18812475;18848529;18931025;19001277;19043829;19088433;19115207;19172745;19234465;19289416;19356719;19389701;19417006;1968462;19690164;19710360;19710929;1971514;19717472;19934321;19951946;19968714;20068231;20101261;20110263;20138239;20450493;20506188;20581824;20719759;20817722;20929863;20937905;20951943;21316606;21479263;21555454;21628546;21774791;21889235;22231400;22325351;22381047;22427940;22464331;22634312;22952240;23219531;23239344;23644491;23785148;24196956;24267888;24714562;2539258;26154972;26365797;26601204;26694611;26992070;27071062;2713875;27397612;27600516;27754849;27846572;27920218;28111073;28218747;28698372;28832583;28834231;29242379;29374058;29393594;29557506;29632046;29632711;29786170;29789417;2991279;30418433;30429286;30515787;31748741;31844290;32157095;32265295;32354867;32357974;32387766;32417234;32488085;32695117;32938616;33100333;33125346;3345742;33968037;34019948;3427020;34465901;34509645;3475708;35051231;35580127;36066968;36215666;36653361;37284884;38359823;6094553;7567999;7592729;7629110;7685352;7732023;7799916;7813420;7892212;7909540;7981125;8020941;8060328;8108407;8156598;8306979;8325954;8333869;8386511;8402897;8415693;8618898;8619637;8622974;8626466;8626488;8643605;8647822;8663599;8706692;8770873;8798690;8804307;8887638;8921401;8970730;8976377;9012850;9062340;9065481;9079689;9099716;9144434;9171241;9178750;9286700;9454824;9604010;9634533;9642256;9748239;9748295;9758418;9836620", "class_list": "", "function": "BAF60c prevents abdominal aortic aneurysm formation through epigenetic control of vascular smooth muscle cell homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Stimulates nuclear receptor mediated transcription. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and 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, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Myofiber Baf60c controls muscle regeneration by modulating Dkk3-mediated paracrine signaling., [RefSeq, PubMed]; SMARCD3 is a potential prognostic marker and therapeutic target in CAFs., [RefSeq, PubMed]; Smarcd3 is an epigenetic modulator of the metabolic landscape in pancreatic ductal adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants 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": 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": 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": "D3DX10;Q2YD86;Q75MJ2;Q75MR8;Q92926;Q9BUH1", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0005102 signaling receptor binding;GO:0003712 transcription coregulator activity;GO:0016922 nuclear receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016514 SWI/SNF complex;GO:0071564 npBAF complex", "go_biological_process": "GO:2000819 regulation of nucleotide-excision repair;GO:0003407 neural retina development;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 30.4, "record_id": "Q6STE5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16586-1", "uniprot_id": "SGCA_HUMAN", "mass": 42875.0, "length": 387, "protein_name": "Alpha-sarcoglycan", "gene_name": "SGCA", "organism": "Human", "refseq_name": "alpha-sarcoglycan isoform 1 precursor", "refseq_ac": "NP_000014", "gene_names_uniprotkb": "SGCA; ADL; DAG2", "gene_names_refseq": "50DAG; ADL; DAG2; DMDA2; LGMD2D; LGMDR3; SCARMD1; SGCA; adhalin", "protein_names_uniprotkb": "Alpha-sarcoglycan; 50 kDa dystrophin-associated glycoprotein; 50DAG; Adhalin; Alpha-SG; Dystroglycan-2", "protein_names_refseq": "50 kDa dystrophin-associated glycoprotein; 50kD DAG; alpha-SG; alpha-sarcoglycan isoform 1 precursor; alpha-sarcoglycan; dystroglycan-2; limb girdle muscular dystrophy 2D; sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)", "tax_id": 9606, "disease": "autosomal recessive limb-girdle muscular dystrophy type 2D (Disease Ontology:DOID:0110278); muscular atrophy (Disease Ontology:DOID:767); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:6442); (R-HSA-9913351)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10022829;10189375;10441321;10545507;10893187;10932245;10942431;11237011;11352924;11430802;11495720;12189167;1319059;15175026;16524571;17905726;18764929;18996010;19346169;19946898;20044576;22159078;22223806;30345904;32157095;3282674;33298915;33392160;33848270;34561969;35051231;39060875;7527495;7547961;7592992;7657792;7663524;7844150;7925941;7937874;8043271;8069911;8268918;8349731;8528203;8576247;8607994;8627307;8798547;8845841;9032047;9192266;9214383;9405466;9412493;9585331;9652404;9864373", "class_list": "", "function": "Base editing repairs an SGCA mutation in human primary muscle stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjogren syndrome patients. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NEB8;A8K3K7;Q13710;Q13712", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0016010 dystrophin-associated glycoprotein complex;GO:0000139 Golgi membrane;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0006936 muscle contraction;GO:0007517 muscle organ development;GO:0043010 camera-type eye development", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q16586-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TCT8-1", "uniprot_id": "SPP2A_HUMAN", "mass": 58143.0, "length": 520, "protein_name": "Signal peptide peptidase-like 2A", "gene_name": "SPPL2A", "organism": "Human", "refseq_name": "signal peptide peptidase-like 2A isoform 1 precursor", "refseq_ac": "NP_116191", "gene_names_uniprotkb": "SPPL2A; IMP3; PSEC0147; PSL2", "gene_names_refseq": "IMD86; IMP3; PSL2; SPPL2A", "protein_names_uniprotkb": "Signal peptide peptidase-like 2A; 3.4.23.-; IMP-3; Intramembrane protease 3; Presenilin-like protein 2; SPP-like 2A; SPPL2a", "protein_names_refseq": "IMP-3; SPP-like 2A; intramembrane cleaving protease; intramembrane protease 3; presenilin-like protein 2; signal peptide peptidase-like 2A isoform 1 precursor", "tax_id": 9606, "disease": "immunodeficiency 86 (Disease Ontology:DOID:0061056)", "pathway": " (hsa:84888); (R-HSA-5357905)", "pathway_count": 2, "publication_count": 120, "publication_id_list": "10.1101/2023.09.13.557529;10521396;10837247;11098060;11181075;11237011;11427719;11577081;12077416;12139484;12167698;12709429;14716293;15024054;15258597;15385547;15870263;16303743;16682944;16829951;16829952;17314102;17557115;17702576;17965014;18178551;19139490;19278658;19289468;19416807;19910467;20068231;20185725;20219915;20304918;20385093;21235526;21408173;22179575;22297296;22435550;22848449;23090970;23132852;23313255;23746843;24098568;24190977;24246475;24323043;24726323;24726327;25418920;25502872;25565632;25645385;26344099;26900751;26987812;26997266;27307491;27458237;27545878;27552911;27591049;27846572;27920218;28063628;28218747;28506461;28920952;28920954;29242379;29314611;29393594;29557506;29632046;29642005;29741879;29789417;30127434;30146158;30315122;30361438;30410026;30420664;30819724;30988283;31366726;31511692;31844290;32161166;32265295;32320653;32350084;32357974;32387766;33043033;33214551;33298915;33469115;33912179;33936100;33968037;34019948;34162724;34357683;34363755;34876703;35051231;35154160;35251023;35580925;35941131;36215666;37074911;7531702;7667287;9049422;9065443", "class_list": "", "function": "Inherited SPPL2a deficiency in humans underlies mycobacterial disease by decreasing the numbers of dendritic cells and impairing IFN-gamma production by mycobacterium-specific memory TH1* cells, [RefSeq, PubMed]; Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in FASLG, ITM2B and TNF processing (PubMed:16829951, PubMed:16829952, PubMed:17557115, PubMed:17965014). Catalyzes the intramembrane cleavage of the anchored fragment of shed TNF (TNF), which promotes the release of the intracellular domain (ICD) for signaling to the nucleus (PubMed:16829952). Also responsible for the intramembrane cleavage of Fas antigen ligand FASLG, which promotes the release of the intracellular FasL domain (FasL ICD) (PubMed:17557115). Essential for degradation of the invariant chain CD74 that plays a central role in the function of antigen-presenting cells in the immune system (By similarity). Plays a role in the regulation of innate and adaptive immunity (PubMed:16829952). Catalyzes the intramembrane cleavage of the simian foamy virus envelope glycoprotein gp130 independently of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis (PubMed:23132852)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; SPP, SPPL2a, -2b, -2c, and -3 probably cleave type II-oriented substrate peptides as shown by consensus analysis, [RefSeq, PubMed]; SPPL2a/b negatively regulates LOX-1 signaling and atherosclerosis., [RefSeq, PubMed]; Study propose that elements within the transmembrane segment and the luminal juxtamembrane domain facilitate intramembrane proteolysis of CD74 by SPPL2a., [RefSeq, PubMed]; This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 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": 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": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 17, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2RDS0;Q8TAW1;Q96SZ8", "ec_number_list": "3.4.23.-", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0042500 aspartic endopeptidase activity, intramembrane cleaving", "go_cellular_component": "GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0006509 membrane protein ectodomain proteolysis;GO:0050776 regulation of immune response;GO:0031293 membrane protein intracellular domain proteolysis;GO:0010803 regulation of tumor necrosis factor-mediated signaling pathway;GO:0033619 membrane protein proteolysis", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q8TCT8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95183-1", "uniprot_id": "VAMP5_HUMAN", "mass": 12805.0, "length": 116, "protein_name": "Vesicle-associated membrane protein 5", "gene_name": "VAMP5", "organism": "Human", "refseq_name": "vesicle-associated membrane protein 5", "refseq_ac": "NP_006625", "gene_names_uniprotkb": "VAMP5; HSPC191", "gene_names_refseq": "VAMP5", "protein_names_uniprotkb": "Vesicle-associated membrane protein 5; Myobrevin; VAMP-5", "protein_names_refseq": "myobrevin; vesicle-associated membrane protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:10791)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "16110299;18578522;19690332;25576301;26154972;26970437;28770820;29557506;29695640;30429286;32157095;32350084;32983136;33592498;34433824;35580925;9725904", "class_list": "", "function": "May participate in trafficking events that are associated with myogenesis, such as myoblast fusion and/or GLUT4 trafficking., [UniProtKB]; Our findings indicate that VAMP5 and VAMP8 are not involved in POAG in the Dutch population. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of vesicles and cell membranes. The VAMP5 gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family and the SNARE superfamily. This VAMP family member may participate in vesicle trafficking events that are associated with myogenesis. [provided by RefSeq, Jul 2008]., [RefSeq]; This study provided new evidence of epistatic association of VAMP5 and MCC with increased risk of Hirschsprung disease, [RefSeq, PubMed]; VAMP5 polymorphisms were found to be associated with the total colonic aganglionosis of Hirschsprung 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": 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": "Q9P0T2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome;GO:0014704 intercalated disc", "go_biological_process": "GO:0030154 cell differentiation;GO:0007517 muscle organ development;GO:0043001 Golgi to plasma membrane protein transport", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "O95183-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969T3-1", "uniprot_id": "SNX21_HUMAN", "mass": 41365.0, "length": 373, "protein_name": "Sorting nexin-21", "gene_name": "SNX21", "organism": "Human", "refseq_name": "sorting nexin-21 isoform a", "refseq_ac": "NP_219489", "gene_names_uniprotkb": "SNX21; C20orf161; SNXL", "gene_names_refseq": "C20orf161; PP3993; SNX-L; SNX21; SNXL; dJ337O18.4", "protein_names_uniprotkb": "Sorting nexin-21; SNX-L; Sorting nexin L", "protein_names_refseq": "sorting nexin L; sorting nexin-21 isoform a; sorting nexin-21", "tax_id": 9606, "disease": "", "pathway": " (hsa:90203)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;12459172;28657654;29557506;30072438;32938616;33592498;35580925", "class_list": "", "function": "Binds to membranes enriched in phosphatidylinositol 3-phosphate (PtdIns(P3)) and phosphatidylinositol 4,5-bisphosphate. May be involved in several stages of intracellular trafficking., [UniProtKB, UniProtKB]; Data suggest that human sorting nexin-L (SNX-L) may be a regulatory gene involved in receptor protein degradation during embryonic liver development., [RefSeq, PubMed]; The N-terminal extension of SNX21 interacts with huntingtin and recruit Htt to an endosomal population. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. The specific function of this protein has not been determined. Multiple transcript variants encoding distinct isoforms have been identified 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": 0, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5JZH5;Q5JZH6;Q5JZH7;Q8WUR6;Q9BR16", "ec_number_list": "", "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:1901981 phosphatidylinositol phosphate binding;GO:0032266 phosphatidylinositol-3-phosphate binding;GO:0008289 lipid binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0031901 early endosome membrane", "go_biological_process": "GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q969T3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A4FU49-1", "uniprot_id": "SH321_HUMAN", "mass": 70519.0, "length": 640, "protein_name": "SH3 domain-containing protein 21", "gene_name": "SH3D21", "organism": "Human", "refseq_name": "SH3 domain-containing protein 21 isoform 1", "refseq_ac": "NP_001156002", "gene_names_uniprotkb": "SH3D21; C1orf113", "gene_names_refseq": "C1orf113; MNMIP1; SH3D21", "protein_names_uniprotkb": "SH3 domain-containing protein 21", "protein_names_refseq": "SH3 domain containing 21; SH3 domain-containing protein 21 isoform 1; SH3 domain-containing protein 21; SH3 domain-containing protein C1orf113", "tax_id": 9606, "disease": "", "pathway": " (hsa:79729)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;29242379;30379171;30429286;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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DLI6;D3DPS6;J3KQM5;Q5VTK7;Q86XZ6;Q8N445;Q96DN4;Q9H5W5", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "", "go_biological_process": "GO:0007015 actin filament organization;GO:0016477 cell migration", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A4FU49-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P55809-1", "uniprot_id": "SCOT1_HUMAN", "mass": 56158.0, "length": 520, "protein_name": "Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial", "gene_name": "OXCT1", "organism": "Human", "refseq_name": "succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 3 precursor", "refseq_ac": "NP_000427", "gene_names_uniprotkb": "OXCT1; OXCT; SCOT", "gene_names_refseq": "OXCT1; OXCT; SCOT", "protein_names_uniprotkb": "Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial; 2.8.3.5; 3-oxoacid CoA-transferase 1; SCOT-s; SCOT; Somatic-type succinyl-CoA:3-oxoacid CoA-transferase; Succinyl-CoA:3-oxoacid CoA transferase", "protein_names_refseq": "SCOT-s; epididymis secretory sperm binding protein; somatic-type succinyl-CoA:3-oxoacid CoA-transferase; succinyl CoA:3-oxoacid CoA transferase; succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 3 precursor; succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial; succinyl-CoA:3-ketoacid-CoA transferase", "tax_id": 9606, "disease": "carbohydrate metabolic disorder (Disease Ontology:DOID:2978); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); succinyl-CoA:3-ketoacid CoA transferase deficiency (MONDO:MONDO:0009492)", "pathway": " (hsa:5019); (R-HSA-77108); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 69, "publication_id_list": "10964512;11237011;11756565;11923310;12198491;14623864;15522782;15870080;16115876;1639787;17101804;17297443;17579211;19608861;19841671;20068231;21296660;22262461;22710082;23201127;23420214;23931759;24315374;24520911;26504172;26923599;26992070;27090790;27496948;27642048;28218747;28377575;28396416;28510447;28514659;28649982;29301859;29437277;29557506;29932645;30120231;31073471;31327635;31695197;31844290;32938616;33141586;33257573;33298915;33596448;33633747;33912179;34357683;34561969;34704252;34943861;35870450;36241641;36284347;36629048;3709573;38042218;38176415;38665916;40914422;7623837;8751852;9380443;9671268", "class_list": "", "function": "Crystal structure of human SCOT, providing a molecular understanding of the reported mutations based on their potential structural effects., [RefSeq, PubMed]; Identifying Acss1, Mtfp1 and Oxct1 as key regulators and promising biomarkers of sarcopenia in various models., [RefSeq, PubMed]; Key enzyme for ketone body catabolism. Catalyzes the first, rate-limiting step of ketone body utilization in extrahepatic tissues, by transferring coenzyme A (CoA) from a donor thiolester species (succinyl-CoA) to an acceptor carboxylate (acetoacetate), and produces acetoacetyl-CoA. Acetoacetyl-CoA is further metabolized by acetoacetyl-CoA thiolase into two acetyl-CoA molecules which enter the citric acid cycle for energy production (PubMed:10964512). Forms a dimeric enzyme where both of the subunits are able to form enzyme-CoA thiolester intermediates, but only one subunit is competent to transfer the CoA moiety to the acceptor carboxylate (3-oxo acid) and produce a new acyl-CoA. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate (By similarity)., [UniProtKB, PubMed, UniProtKB]; OXCT1 functions as a succinyltransferase, contributing to hepatocellular carcinoma via succinylating LACTB., [RefSeq, PubMed]; Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease., [RefSeq, PubMed]; This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [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": 8, "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": "B2R5V2;B7Z528", "ec_number_list": "2.3.3.1;7.1.1.2;3.6.4.10;1.4.1.3;1.2.1.3;6.4.1.3;7.1.2.2;4.2.1.2;1.2.4.1;1.8.1.4;5.6.1.7;2.3.1.168;2.3.1.-;2.3.1.37;4.98.1.1;1.1.1.38;2.3.1.9;1.2.1.36;1.7.1.-;1.2.1.28;3.4.21.53;1.1.1.37;5.3.3.8;1.3.8.1;1.3.8.5;1.1.1.42;3.1.2.2;1.1.1.41;2.3.3.10;2.8.3.5;3.5.3.1;1.2.4.2;1.1.1.30;5.3.3.21;2.7.11.2;2.7.11.-;3.4.21.92;1.1.1.35;2.7.1.23;6.2.1.-;6.2.1.4;5.6.2.3;1.1.1.62;1.1.1.239;1.1.1.178;1.1.1.53;1.1.1.159;4.2.1.3;6.1.1.5;2.3.1.41", "go_molecular_function": "GO:0042802 identical protein binding;GO:0008260 succinyl-CoA:3-oxo-acid CoA-transferase activity;GO:0008410 CoA-transferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0007507 heart development;GO:0007584 response to nutrient;GO:0042594 response to starvation;GO:0045471 response to ethanol;GO:0060612 adipose tissue development", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "P55809-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75093-1", "uniprot_id": "SLIT1_HUMAN", "mass": 167926.0, "length": 1534, "protein_name": "Slit homolog 1 protein", "gene_name": "SLIT1", "organism": "Human", "refseq_name": "slit homolog 1 protein precursor", "refseq_ac": "NP_003052", "gene_names_uniprotkb": "SLIT1; KIAA0813; MEGF4; SLIL1", "gene_names_refseq": "MEGF4; SLIL1; SLIT-1; SLIT1; SLIT3", "protein_names_uniprotkb": "Slit homolog 1 protein; Multiple EGF-like domains protein 4; Multiple epidermal growth factor-like domains protein 4; Slit-1", "protein_names_refseq": "multiple EGF like domains 4; multiple EGF-like domains protein 4; multiple epidermal growth factor-like domains protein 4; slit homolog 1 protein precursor; slit homolog 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:6585); (R-HSA-373752); (R-HSA-376176); (R-HSA-428542); (R-HSA-8985801); (R-HSA-9010553)", "pathway_count": 6, "publication_count": 42, "publication_id_list": "10.1101/2023.09.13.557529;10102266;10102268;10892742;11237011;11375980;12141424;12154370;12200164;12508280;15063764;16762451;17174565;17565045;19706539;20375348;21600986;23217742;23746841;24190977;24936616;25242263;25892735;26586761;29458143;29557506;31020640;31154438;31186493;31844290;32488085;32938616;33298915;33912179;33968037;34171305;35051231;35996510;36010968;9693030;9813312;9858595", "class_list": "", "function": "Findings show that SLIT1 is a direct target of SUV39H2 which binds to its promoter and catalyzes H3K9 tri-methylation to silence SLIT1 expression., [RefSeq, PubMed]; Micro RNA-640 Targeting SLIT1 Enhances Glioma Radiosensitivity by Restraining the Activation of Wnt/beta-Catenin Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; SLIT1-mutated hematopoietic stem cells have a role in clonal hematopoiesis in acquired aplastic anemia, [RefSeq, PubMed]; Thought to act as molecular guidance cue in cellular migration, and function appears to be mediated by interaction with roundabout homolog receptors. During neural development involved in axonal navigation at the ventral midline of the neural tube and projection of axons to different regions (By similarity). SLIT1 and SLIT2 together seem to be essential for midline guidance in the forebrain by acting as repulsive signal preventing inappropriate midline crossing by axons projecting from the olfactory bulb., [UniProtKB, UniProtKB, UniProtKB]", "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": 9, "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": 9, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 71, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "Q5T0V1;Q8WWZ2;Q9UIL7", "ec_number_list": "", "go_molecular_function": "GO:0008201 heparin binding;GO:0043395 heparan sulfate proteoglycan binding;GO:0005509 calcium ion binding;GO:0048495 Roundabout binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005576 extracellular region", "go_biological_process": "GO:0021510 spinal cord development;GO:0050919 negative chemotaxis;GO:0007411 axon guidance;GO:0048853 forebrain morphogenesis;GO:0008045 motor neuron axon guidance", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "O75093-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2TAA8-1", "uniprot_id": "TXIP1_HUMAN", "mass": 76773.0, "length": 658, "protein_name": "Translin-associated factor X-interacting protein 1", "gene_name": "TSNAXIP1", "organism": "Human", "refseq_name": "translin-associated factor X-interacting protein 1 isoform d", "refseq_ac": "NP_001275921", "gene_names_uniprotkb": "TSNAXIP1; TXI1", "gene_names_refseq": "TSNAXIP1; TXI1", "protein_names_uniprotkb": "Translin-associated factor X-interacting protein 1; Trax-interacting protein 1", "protein_names_refseq": "translin-associated factor X-interacting protein 1 isoform d; trax-interacting protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55815)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;21683752;29557506;35051231;35580925;36215666;39302247;39894887", "class_list": "", "function": "Possible role in spermatogenesis., [UniProtKB, UniProtKB]; Rs1630250 was associated in males w/ methamphetamine dependence in allele analysis. results not significant after Bonferroni correction. findings suggest TSNAX does not play a role in methamphetamine dependence in Japanese population, [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": 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": "Q9P105", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q2TAA8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14656-1", "uniprot_id": "TM187_HUMAN", "mass": 29148.0, "length": 261, "protein_name": "Transmembrane protein 187", "gene_name": "TMEM187", "organism": "Human", "refseq_name": "transmembrane protein 187", "refseq_ac": "NP_003483", "gene_names_uniprotkb": "TMEM187; CXorf12; DXS9878E; ITBA1", "gene_names_refseq": "CXorf12; DXS9878E; ITBA1; TMEM187", "protein_names_uniprotkb": "Transmembrane protein 187; Protein ITBA1", "protein_names_refseq": "transmembrane protein 187", "tax_id": 9606, "disease": "", "pathway": " (hsa:8269)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;26992070;28228285;28271077;28832583;28834231;28904123;29242379;30315122;31154438;31844290;31848261;32157095;32897882;32938616;33298915;33592498;33968037;34087483;34171305;34932366;35051231;35580925;36010968;36241641;37440666;38072919;8786131", "class_list": "", "function": "Sex bias in celiac disease: XWAS and monocyte eQTLs in women identify TMEM187 as a functional candidate gene. Publication Status: Online-Only, [RefSeq, PubMed]; Study investigated association between 3 polymorphisms in the Xq28 region containing TMEM187 and IRAK1 (rs13397, rs1059703, and rs1059702) with rheumatoid arthritis (RA)susceptibility; results replicated association of the 3 Xq28 polymorphisms with RA risk in Tunisian and French populations and suggested that RA susceptibility is associated with TMEM187-IRAK1 polymorphisms in women, [RefSeq, PubMed]; This gene consists of two exons and encodes a multi-pass membrane protein. An alternatively spliced transcript variant encoding the same protein has been found, but its biological validity is not determined. [provided by RefSeq, May 2010]., [RefSeq]; Transmembrane Protein 187 (TMEM187) and Interleukin 1 Receptor Associated Kinase (IRAK1) gene polymorphism association with rheumatoid arthritis susceptibility in Egyptian patients., [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": "B2RC47;Q6IAV7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane;GO:0030133 transport vesicle", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q14656-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75631-1", "uniprot_id": "UPK3A_HUMAN", "mass": 30670.0, "length": 287, "protein_name": "Uroplakin-3a", "gene_name": "UPK3A", "organism": "Human", "refseq_name": "uroplakin-3a isoform 2 precursor", "refseq_ac": "NP_001161046", "gene_names_uniprotkb": "UPK3A; UPK3", "gene_names_refseq": "UP3A; UPIIIA; UPIII; UPK3A; UPK3", "protein_names_uniprotkb": "Uroplakin-3a; UP3a; UPIII; Uroplakin III", "protein_names_refseq": "uroplakin 3; uroplakin III; uroplakin-3a isoform 2 precursor; uroplakin-3a", "tax_id": 9606, "disease": "vesicoureteral reflux (Disease Ontology:DOID:9620)", "pathway": " (hsa:7380)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "15888565;16731295;17698128;19413330;25743828;29557506;30069482;34405274;35774082;9818021;9846985", "class_list": "", "function": "Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence (By similarity)., [UniProtKB]; High Expression of UPK3A Promotes the Progression of Gastric Cancer Cells by Inactivating p53 Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; High expression level of preoperative serum Uroplakin III is associated with biologically aggressive bladder cancer., [RefSeq, PubMed]; Our results indicate that de novo mutations in UPIIIA can be involved in defective early kidney development, but probably constitute only a rare cause of human renal hypodysplasia in a minor subset of individuals [UPIIIA]., [RefSeq, PubMed]; This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]., [RefSeq]; UPIIIa is a biomarker for bladder cancer that is unrelated to chemical carcinogenesis Publication Status: Online-Only, [RefSeq, PubMed]; Uroplakin III and III-delta4 genes were significantly up-regulated only in patients with nonulcerative interstitial cystitis, [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": 1, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "B0QY25;O60261;Q32N05;Q5TII6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0120001 apical plasma membrane urothelial plaque;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0006833 water transport;GO:0015840 urea transport", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "O75631-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P04179-1", "uniprot_id": "SODM_HUMAN", "mass": 24750.0, "length": 222, "protein_name": "Superoxide dismutase [Mn], mitochondrial", "gene_name": "SOD2", "organism": "Human", "refseq_name": "superoxide dismutase [Mn], mitochondrial isoform C precursor", "refseq_ac": "NP_001309744", "gene_names_uniprotkb": "SOD2", "gene_names_refseq": "GC1; GClnc1; IPO-B; IPOB; MNSOD; MVCD6; Mn-SOD; SOD2; lncRNA-GC1", "protein_names_uniprotkb": "Superoxide dismutase [Mn], mitochondrial; 1.15.1.1", "protein_names_refseq": "Mn superoxide dismutase; epididymis secretory sperm binding protein; gastric cancer-associated lncRNA 1; indophenoloxidase B; manganese-containing superoxide dismutase; mangano-superoxide dismutase; superoxide dismutase 2, mitochondrial; superoxide dismutase [Mn], mitochondrial isoform C precursor", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); amyotrophic lateral sclerosis type 1 (Disease Ontology:DOID:0060193); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); sensorineural hearing loss (Disease Ontology:DOID:10003); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); primary open angle glaucoma (Disease Ontology:DOID:1070); hypertension (Disease Ontology:DOID:10763); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); urinary bladder cancer (Disease Ontology:DOID:11054); adult respiratory distress syndrome (Disease Ontology:DOID:11394); osteoporosis (Disease Ontology:DOID:11476); diabetic angiopathy (Disease Ontology:DOID:11713); nephrotic syndrome (Disease Ontology:DOID:1184); optic neuritis (Disease Ontology:DOID:1210); primary biliary cholangitis (Disease Ontology:DOID:12236); vitiligo (Disease Ontology:DOID:12306); dilated cardiomyopathy (Disease Ontology:DOID:12930); lung cancer (Disease Ontology:DOID:1324); exfoliation syndrome (Disease Ontology:DOID:13641); polyneuropathy (Disease Ontology:DOID:1389); bladder neck obstruction (Disease Ontology:DOID:13948); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); Parkinson's disease (Disease Ontology:DOID:14330); neuronal ceroid lipofuscinosis (Disease Ontology:DOID:14503); hypothyroidism (Disease Ontology:DOID:1459); urticaria (Disease Ontology:DOID:1555); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); cystitis (Disease Ontology:DOID:1679); pancreatic cancer (Disease Ontology:DOID:1793); status epilepticus (Disease Ontology:DOID:1824); melanoma (Disease Ontology:DOID:1909); transient cerebral ischemia (Disease Ontology:DOID:224); ovarian cancer (Disease Ontology:DOID:2394); pseudoxanthoma elasticum (Disease Ontology:DOID:2738); bilirubin metabolic disorder (Disease Ontology:DOID:2741); asthma (Disease Ontology:DOID:2841); carotid artery disease (Disease Ontology:DOID:3407); inclusion body myositis (Disease Ontology:DOID:3429); Canavan disease (Disease Ontology:DOID:3613); Leigh disease (Disease Ontology:DOID:3652); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); brain edema (Disease Ontology:DOID:4724); esophagus adenocarcinoma (Disease Ontology:DOID:4914); liver cirrhosis (Disease Ontology:DOID:5082); intestinal disease (Disease Ontology:DOID:5295); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); reactive arthritis (Disease Ontology:DOID:6196); hepatocellular carcinoma (Disease Ontology:DOID:684); Leber hereditary optic neuropathy (Disease Ontology:DOID:705); abdominal aortic aneurysm (Disease Ontology:DOID:7693); infectious mononucleosis (Disease Ontology:DOID:8568); mycosis fungoides (Disease Ontology:DOID:8691); psoriasis (Disease Ontology:DOID:8893); systemic lupus erythematosus (Disease Ontology:DOID:9074); acute myeloid leukemia (Disease Ontology:DOID:9119); hyperhomocysteinemia (Disease Ontology:DOID:9279); type 2 diabetes mellitus (Disease Ontology:DOID:9352); multiple myeloma (Disease Ontology:DOID:9538); type 1 diabetes mellitus (Disease Ontology:DOID:9744); microvascular complications of diabetes, susceptibility to, 6 (MONDO:MONDO:0012970)", "pathway": " (hsa:6648); (R-HSA-2151201); (R-HSA-3299685); (R-HSA-8862803); (R-HSA-8950505); (R-HSA-9615017); (R-HSA-9841251)", "pathway_count": 7, "publication_count": 212, "publication_id_list": "10029572;10102273;10217147;10334867;10358014;10412986;10480625;10514471;10521424;10604467;10639123;10643692;10656833;10713165;10830966;10833429;10852710;10913147;10919671;10982;11018045;11139407;11139588;11237011;11340167;11507097;11518528;11580280;11779849;11809803;11853546;11886899;11912930;12239572;12374852;12446202;12563009;12624725;12745923;12829378;1394426;15044467;15046979;15064408;15280035;15317809;15590058;15596429;15684387;15927447;16038020;16079181;16079853;16399855;16401067;16543247;16615992;1668270;16750198;16783365;16788062;16840535;16880213;16890199;16908542;16911507;16956821;1699607;17018785;17031457;17186424;17275676;17377532;17409931;17437997;17519234;1763037;17646272;17707404;17715127;17923681;18215119;18258609;18343819;18358825;18680753;18691386;18703498;18936159;18989629;19001277;19219623;19265433;19356719;19417006;19509150;19542232;19608861;1988135;19951946;1999334;20012093;20052533;20070187;20143154;20367259;20668652;20690882;2071038;21056286;21215271;21268071;21385867;21393238;21536589;21967640;22493009;22869735;22899714;22910329;23152058;23164639;23243068;23259684;23454490;23455484;23665396;24028821;24040102;24498107;2462451;25047527;25578653;26768311;27055786;27426517;27547294;28228285;2831093;29242379;29393594;29557506;29769354;29789417;30315122;30379171;30410026;30429286;30444036;31154438;31844290;31848261;32157095;32302062;32350084;32357974;32938616;32983136;33043033;33592498;33912179;33968037;3399391;34357683;3457020;35051231;3532102;35580925;3619451;36284347;3684581;3693360;37074911;38007588;38665916;39013847;39038402;40596516;5389100;60;6286671;6386798;6961438;7021796;7172448;7487923;7498159;7629110;7698360;7702755;7799916;7895732;807573;8108407;8333869;8379940;8428933;8452552;8455624;8605177;8663465;9150946;9178750;9228946;9286700;9295278;9369223;9537987;9537988;9639555;9726962;9923614", "class_list": "", "function": "Destroys radicals which are normally produced within the cells and which are toxic to biological systems., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Investigation of the association between the CASP8rs1045485 and SOD2 rs4880 single nucleotide polymorphisms (SNPs) with breast cancer., [RefSeq, PubMed]; Revealing the atomic and electronic mechanism of human manganese superoxide dismutase product inhibition. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [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": 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": 6, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 65, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R7R1;B3KUK2;B4DL20;B4E3K9;E1P5A9;P78434;Q16792;Q5TCM1;Q96EE6;Q9P2Z3", "ec_number_list": "1.4.1.3;1.8.-.-;1.15.1.1;1.1.1.42;3.4.19.12;1.11.1.-;1.7.-.-;1.14.12.-;6.2.1.-;6.2.1.1;6.2.1.17;2.3.1.-;2.3.1.286", "go_molecular_function": "GO:0003677 DNA binding;GO:0019899 enzyme binding;GO:0030145 manganese ion binding;GO:0042802 identical protein binding;GO:0004784 superoxide dismutase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0042645 mitochondrial nucleoid;GO:0070062 extracellular exosome", "go_biological_process": "GO:0034021 response to silicon dioxide;GO:1902631 negative regulation of membrane hyperpolarization;GO:0000303 response to superoxide;GO:0010729 positive regulation of hydrogen peroxide biosynthetic process;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 21.8, "record_id": "P04179-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P47872-1", "uniprot_id": "SCTR_HUMAN", "mass": 50207.0, "length": 440, "protein_name": "Secretin receptor", "gene_name": "SCTR", "organism": "Human", "refseq_name": "secretin receptor precursor", "refseq_ac": "NP_002971", "gene_names_uniprotkb": "SCTR", "gene_names_refseq": "SCTR; SECR; SR", "protein_names_uniprotkb": "Secretin receptor; SCT-R; SECR", "protein_names_refseq": "pancreatic secretin receptor; secretin receptor precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:6344); (R-HSA-418555); (R-HSA-420092)", "pathway_count": 3, "publication_count": 85, "publication_id_list": "10322410;10537138;10698200;11007482;11060443;11237011;11946536;12036966;12058044;12106601;12180353;12860470;1333056;13549488;14671004;1517224;15464082;15471943;15765929;15769620;15951850;16313925;16687412;16923326;17168849;1739432;18044684;18577758;19105585;19876791;19929708;20381629;21036126;2163110;2417744;24366607;24687066;2491850;25332973;2553411;2553705;26417854;2826231;2871555;29443750;29602314;30833991;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;32811827;32938616;32970347;33008599;33049737;33928675;34509645;35051231;37335970;3899557;6085243;6192430;6745415;7589426;7612008;7680413;7700244;7811244;7864894;7902709;8144028;8340388;8390245;8514797;8672451;9263355;9417641;9651336;9990065", "class_list": "", "function": "Expression of Secretin and its Receptor Along the Intestinal Tract in Type 2 Diabetes Patients and Healthy Controls., [RefSeq, PubMed]; G protein-coupled receptor activated by secretin (SCT), which is involved in different processes such as regulation of the pH of the duodenal content, food intake and water homeostasis (PubMed:25332973, PubMed:32811827, PubMed:33008599, PubMed:7612008). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and activates cAMP-dependent pathway (PubMed:32811827, PubMed:33008599). Upon binding to secretin, regulates the pH of the duodenum by (1) inhibiting the secretion of gastric acid from the parietal cells of the stomach and (2) stimulating the production of bicarbonate (NaHCO(3)) from the ductal cells of the pancreas (By similarity). In addition to regulating the pH of the duodenal content, plays a central role in diet induced thermogenesis: acts as a non-sympathetic brown fat (BAT) activator mediating prandial thermogenesis, which consequentially induces satiation. Mechanistically, secretin released by the gut after a meal binds to secretin receptor (SCTR) in brown adipocytes, activating brown fat thermogenesis by stimulating lipolysis, which is sensed in the brain and promotes satiation. Also able to stimulate lipolysis in white adipocytes. Also plays an important role in cellular osmoregulation by regulating renal water reabsorption. Also plays a role in the central nervous system: required for synaptic plasticity (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed]; Inhibition of Secretin/Secretin Receptor Axis Ameliorates NAFLD Phenotypes., [RefSeq, PubMed]; SCTR hypermethylation is a diagnostic biomarker in colorectal cancer., [RefSeq, PubMed]; Structure and dynamics of the active Gs-coupled human secretin receptor. Publication Status: Online-Only, [RefSeq, PubMed]; Structure of the human secretin receptor coupled to an engineered heterotrimeric G protein., [RefSeq, PubMed]; The protein encoded by this gene is a G protein-coupled receptor and belongs to the glucagon-VIP-secretin receptor family. It binds secretin which is the most potent regulator of pancreatic bicarbonate, electrolyte and volume secretion. Secretin and its receptor are suggested to be involved in pancreatic cancer and autism. [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": 5, "mined_n_glycosites": 5, "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": 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": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q12961;Q13213;Q53T00", "ec_number_list": "", "go_molecular_function": "GO:0017046 peptide hormone binding;GO:0008528 G protein-coupled peptide receptor activity;GO:0015055 secretin receptor activity;GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0005881 cytoplasmic microtubule", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0031667 response to nutrient levels;GO:0032098 regulation of appetite", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "P47872-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96KG9-1", "uniprot_id": "SCYL1_HUMAN", "mass": 89631.0, "length": 808, "protein_name": "N-terminal kinase-like protein", "gene_name": "SCYL1", "organism": "Human", "refseq_name": "N-terminal kinase-like protein isoform B", "refseq_ac": "NP_001041683", "gene_names_uniprotkb": "SCYL1; CVAK90; GKLP; HT019; NTKL; TAPK; TEIF; TRAP", "gene_names_refseq": "GKLP; HT019; NKTL; NTKL; P105; SCAR21; SCYL1; TAPK; TEIF; TRAP", "protein_names_uniprotkb": "N-terminal kinase-like protein; Coated vesicle-associated kinase of 90 kDa; SCY1-like protein 1; Telomerase regulation-associated protein; Telomerase transcriptional element-interacting factor; Teratoma-associated tyrosine kinase", "protein_names_refseq": "N-terminal kinase-like protein isoform B; SCY1-like protein 1; SCY1-like, kinase-like 1; coated vesicle-associated kinase of 90 kDa; likely ortholog of mouse N-terminal kinase-like protein; telomerase regulation-associated protein; telomerase transcriptional elements-interacting factor; teratoma-associated tyrosine kinase", "tax_id": 9606, "disease": "hereditary ataxia (Disease Ontology:DOID:0050951); autosomal recessive spinocerebellar ataxia 21 (Disease Ontology:DOID:0111155)", "pathway": " (hsa:57410)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "10843802;11237011;12036289;15504359;15963946;16903783;17081983;17322306;17344846;18556652;19651622;20068231;23481700;24769208;25418920;25576301;25645385;26154972;26581903;26929215;28467828;28510447;28514659;28832583;28904123;29242379;29393594;29508533;29786170;30397120;30524438;30779550;31154438;31844290;32157095;32350084;32357974;32387766;32502341;32938616;33091337;33141586;33298915;33592498;33912179;33968037;33981976;34019948;34357683;35051231;35154160;35251023;35318648;35948564;36010968;36290821;38665916;39394539", "class_list": "", "function": "Acts as a transcriptional activator. It binds to three different types of GC-rich DNA binding sites (box-A, -B and -C) in the beta-polymerase promoter region. It also binds to the TERT promoter region., [UniProtKB, PubMed]; NTKL is involved in centrosome-related cellular functions, [RefSeq, PubMed]; Overexpression of SCYL1 Is Associated with Progression of Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates COPI-mediated retrograde protein traffic at the interface between the Golgi apparatus and the endoplasmic reticulum. Involved in the maintenance of the Golgi apparatus morphology., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; SCYL1-mediated regulation of the mTORC1 signaling pathway inhibits autophagy and promotes gastric cancer metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different 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": 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": 17, "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": "A6NJF1;Q96G50;Q96KG8;Q96KH1;Q9HAW5;Q9HBL3;Q9NR53", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0004672 protein kinase activity;GO:0005524 ATP binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q96KG9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NBT2-1", "uniprot_id": "SPC24_HUMAN", "mass": 22443.0, "length": 197, "protein_name": "Kinetochore protein Spc24", "gene_name": "SPC24", "organism": "Human", "refseq_name": "kinetochore protein Spc24 isoform 2", "refseq_ac": "NP_001303960", "gene_names_uniprotkb": "SPC24; SPBC24", "gene_names_refseq": "SPBC24; SPC24", "protein_names_uniprotkb": "Kinetochore protein Spc24; hSpc24", "protein_names_refseq": "SPC24, NDC80 kinetochore complex component, homolog; hSpc24; kinetochore protein Spc24 isoform 2; kinetochore protein Spc24; spindle pole body component 24 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:147841); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 8, "publication_count": 92, "publication_id_list": "10411507;10600384;10678165;10958683;11081627;11181178;11237011;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12679384;12732141;12805219;12852857;14699129;14730319;14738735;15006353;15085137;15339662;15507212;15561729;15723797;15737063;15864301;15866170;15944396;15961401;15964272;16292343;16439214;16541025;16565220;16622419;16622420;16682347;16890222;16943183;17030981;17112726;17113138;17129783;17196341;17198702;1737036;18001770;18097444;18716626;18923426;19350017;19690332;19696148;19815554;19965387;20030946;20068231;20101212;20591975;21111234;21148482;21397845;21576392;21868368;21878504;21987589;22094460;22275430;22608513;22790947;22885700;23085020;23186163;23222643;23801653;24914801;25418920;25740311;25789526;28218747;31409757;31530632;34020142;34260926;35543858;9649308;9649503;9892021", "class_list": "", "function": "Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity (PubMed:14738735). Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore (PubMed:14738735). The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules (PubMed:23085020)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; HSPC24 is a component of the human NDC80 kinetochore complex, [RefSeq, PubMed]; Hsa-miR-7-5p suppresses proliferation, migration and promotes apoptosis in hepatocellular carcinoma cell lines by inhibiting SPC24 expression., [RefSeq, PubMed]; LINC02154 promotes the proliferation and metastasis of hepatocellular carcinoma by enhancing SPC24 promoter activity and activating the PI3K-AKT signaling pathway., [RefSeq, PubMed]; The Spc24, Spc25, Nuf2, and Ndc80/Hec1 complex is a faithful copy of the endogenous Ndc80 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": 3, "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": "B4DZZ7;C9JGC4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0031262 Ndc80 complex;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0000776 kinetochore", "go_biological_process": "GO:0007059 chromosome segregation;GO:0008608 attachment of spindle microtubules to kinetochore;GO:0051301 cell division;GO:0007094 mitotic spindle assembly checkpoint signaling", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q8NBT2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P31645-1", "uniprot_id": "SC6A4_HUMAN", "mass": 70325.0, "length": 630, "protein_name": "Sodium-dependent serotonin transporter", "gene_name": "SLC6A4", "organism": "Human", "refseq_name": "sodium-dependent serotonin transporter", "refseq_ac": "NP_001036", "gene_names_uniprotkb": "SLC6A4; HTT; SERT", "gene_names_refseq": "5-HTTLPR; 5-HTT; 5HTT; HTT; OCD1; SERT1; SERT; SLC6A4; hSERT", "protein_names_uniprotkb": "Sodium-dependent serotonin transporter; 5HT transporter; 5HTT; SERT; Solute carrier family 6 member 4", "protein_names_refseq": "5-hydroxytryptamine (serotonin) transporter; 5HT transporter; Na+/Cl- dependent serotonin transporter; serotonin transporter 1; sodium-dependent serotonin transporter; solute carrier family 6 (neurotransmitter transporter), member 4; solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); alcohol dependence (Disease Ontology:DOID:0050741); obstructive sleep apnea (Disease Ontology:DOID:0050848); autism spectrum disorder (Disease Ontology:DOID:0060041); alexithymia (Disease Ontology:DOID:0060131); Parkinsonism (Disease Ontology:DOID:0080855); obsessive-compulsive disorder (Disease Ontology:DOID:10933); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); heart disease (Disease Ontology:DOID:114); dengue hemorrhagic fever (Disease Ontology:DOID:12206); autistic disorder (Disease Ontology:DOID:12849); generalized anxiety disorder (Disease Ontology:DOID:14320); major depressive disorder (Disease Ontology:DOID:1470); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); anxiety disorder (Disease Ontology:DOID:2030); asthma (Disease Ontology:DOID:2841); substance abuse (Disease Ontology:DOID:302); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); bipolar disorder (Disease Ontology:DOID:3312); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); liver cirrhosis (Disease Ontology:DOID:5082); borna disease (Disease Ontology:DOID:5154); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); diverticulitis (Disease Ontology:DOID:7475); cocaine abuse (Disease Ontology:DOID:809); chronic fatigue syndrome (Disease Ontology:DOID:8544); sudden infant death syndrome (Disease Ontology:DOID:9007); leishmaniasis (Disease Ontology:DOID:9065); brain disease (Disease Ontology:DOID:936)", "pathway": " (hsa:6532); (R-HSA-380615); (R-HSA-442660)", "pathway_count": 3, "publication_count": 79, "publication_id_list": "10391209;10407194;10446133;10684912;10889531;10973981;11237011;11357798;11698620;11897791;12115694;12151341;12869649;12869766;12944413;14552650;14593431;15108187;15286787;15286788;15592994;15632147;15635638;15995945;16150497;16226721;1646793;16601320;16751771;16803896;16870614;17502375;17506858;17690258;17726476;17913921;18227069;18317590;18599538;18957375;19270731;2008212;20118234;21730057;21992875;2387399;24121440;27049939;27111230;27140629;27756841;27862975;29557506;30315122;30707744;31154438;31217245;31844290;32157095;3363943;33912179;34851672;35051231;35258286;38465822;38753762;38928372;39298801;39457394;7651355;7681602;7684072;7874447;8125921;8183239;8452685;8632143;8863842;9845349", "class_list": "", "function": "Connection Failure: Differences in White Matter Microstructure Are Associated with 5-HTTLPR but Not with Risk Seeking for Losses. Publication Status: Online-Only, [RefSeq, PubMed]; Early-life adversity severity, timing, and context type are associated with SLC6A4 methylation in emerging adults: Results from a prospective cohort study., [RefSeq, PubMed]; PPARgamma dependent PEX11beta counteracts the suppressive role of SIRT1 on neural differentiation of HESCs. Publication Status: Online-Only, [RefSeq, PubMed]; Serotonin transporter that cotransports serotonin with one Na(+) ion in exchange for one K(+) ion and possibly one proton in an overall electroneutral transport cycle. Transports serotonin across the plasma membrane from the extracellular compartment to the cytosol thus limiting serotonin intercellular signaling (PubMed:10407194, PubMed:12869649, PubMed:21730057, PubMed:27049939, PubMed:27756841, PubMed:34851672). Essential for serotonin homeostasis in the central nervous system. In the developing somatosensory cortex, acts in glutamatergic neurons to control serotonin uptake and its trophic functions accounting for proper spatial organization of cortical neurons and elaboration of sensory circuits. In the mature cortex, acts primarily in brainstem raphe neurons to mediate serotonin uptake from the synaptic cleft back into the pre-synaptic terminal thus terminating serotonin signaling at the synapse (By similarity). Modulates mucosal serotonin levels in the gastrointestinal tract through uptake and clearance of serotonin in enterocytes. Required for enteric neurogenesis and gastrointestinal reflexes (By similarity). Regulates blood serotonin levels by ensuring rapid high affinity uptake of serotonin from plasma to platelets, where it is further stored in dense granules via vesicular monoamine transporters and then released upon stimulation (PubMed:17506858, PubMed:18317590). Mechanistically, the transport cycle starts with an outward-open conformation having Na1(+) and Cl(-) sites occupied. The binding of a second extracellular Na2(+) ion and serotonin substrate leads to structural changes to outward-occluded to inward-occluded to inward-open, where the Na2(+) ion and serotonin are released into the cytosol. Binding of intracellular K(+) ion induces conformational transitions to inward-occluded to outward-open and completes the cycle by releasing K(+) possibly together with a proton bound to Asp-98 into the extracellular compartment. Na1(+) and Cl(-) ions remain bound throughout the transport cycle (PubMed:10407194, PubMed:12869649, PubMed:21730057, PubMed:27049939, PubMed:27756841, PubMed:34851672). Additionally, displays serotonin-induced channel-like conductance for monovalent cations, mainly Na(+) ions. The channel activity is uncoupled from the transport cycle and may contribute to the membrane resting potential or excitability (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The Association between Post-Traumatic Stress Disorder, 5HTTLPR, and the Role of Ethnicity: A Meta-Analysis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. The encoded protein terminates the action of serotonin and recycles it in a sodium-dependent manner. This protein is a target of psychomotor stimulants, such as amphetamines and cocaine, and is a member of the sodium:neurotransmitter symporter family. A repeat length polymorphism in the promoter of this gene has been shown to affect the rate of serotonin uptake. There have been conflicting results in the literature about the possible effect, if any, that this polymorphism may play in behavior and depression. [provided by RefSeq, May 2019]., [RefSeq]; [Hyperbaric oxygenation in the complex treatment of patients with diabetes mellitus].', trans 'Giperbaricheskaia oksigenatsiia v kompleknom lechenii bol'nykh sakharnym diabetom., [RefSeq, PubMed]; [The association of polymorphisms of the serotonin transporter gene SLC6A4 with depression]., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "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": 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": 6, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 31, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5EE02", "ec_number_list": "", "go_molecular_function": "GO:0005326 neurotransmitter transmembrane transporter activity;GO:0005178 integrin binding;GO:0042802 identical protein binding;GO:0051015 actin filament binding;GO:0051378 serotonin binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0045121 membrane raft;GO:0045202 synapse", "go_biological_process": "GO:0046621 negative regulation of organ growth;GO:0021941 negative regulation of cerebellar granule cell precursor proliferation;GO:0048484 enteric nervous system development;GO:0060179 male mating behavior;GO:0015844 monoamine transport", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P31645-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13621-1", "uniprot_id": "S12A1_HUMAN", "mass": 121450.0, "length": 1099, "protein_name": "Solute carrier family 12 member 1", "gene_name": "SLC12A1", "organism": "Human", "refseq_name": "solute carrier family 12 member 1 isoform A", "refseq_ac": "NP_000329", "gene_names_uniprotkb": "SLC12A1; NKCC2", "gene_names_refseq": "BSC-1; BSC1; BSC; CCC2; NKCC2; SLC12A1", "protein_names_uniprotkb": "Solute carrier family 12 member 1; BSC1; Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1; Kidney-specific Na-K-Cl symporter; NKCC2; Na-K-2Cl cotransporter 2", "protein_names_refseq": "Na-K-2Cl cotransporter 2; Na-K-2Cl cotransporter; bumetanide-sensitive cotransporter type 1; bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1; bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2; kidney-specific Na-K-Cl symporter; solute carrier family 12 (sodium/potassium/chloride transporter), member 1; solute carrier family 12 (sodium/potassium/chloride transporters), member 1; solute carrier family 12 member 1 isoform A", "tax_id": 9606, "disease": "Bartter disease type 1 (Disease Ontology:DOID:0110142); epilepsy (Disease Ontology:DOID:1826); Bartter disease (Disease Ontology:DOID:445)", "pathway": " (hsa:6557); (R-HSA-426117); (R-HSA-5619104)", "pathway_count": 3, "publication_count": 33, "publication_id_list": "10347194;10600773;11237011;12106695;12368912;13785791;16275913;17341212;20091762;21321328;21423148;21613606;29242379;29557506;29789417;29993276;30248150;32387766;33392160;33968037;35051231;37074453;37217939;37968800;38003293;38474353;7629105;8528245;8640224;8663127;8812482;9355073;9585600", "class_list": "", "function": "AUP1 Regulates the Endoplasmic Reticulum-Associated Degradation and Polyubiquitination of NKCC2. Publication Status: Online-Only, [RefSeq, PubMed]; Association of SLC12A1 and GLUR4 Ion Transporters with Neoadjuvant Chemoresistance in Luminal Locally Advanced Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Association of polymorphisms of calcium reabsorption genes SLC12A1, KCNJ1 and SLC8A1 with colorectal adenoma., [RefSeq, PubMed]; From Fish Physiology to Human Disease: The Discovery of the NCC, NKCC2, and the Cation-Coupled Chloride Cotransporters., [RefSeq, PubMed]; Renal sodium, potassium and chloride non-electrogenic ion symporter that mediates the transepithelial NaCl reabsorption in the thick ascending limb and plays an essential role in the urinary concentration and volume regulation (PubMed:21321328). It can substitute NH4(+) for K(+), enabling NH4(+) apical transmembrane transport in the medullary thick ascending limb (MTAL). This function is crucial for maintaining ammonium homeostasis by the kidney, particularly during metabolic acidosis (By similarity)., [UniProtKB, PubMed, UniProtKB]; This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010]., [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": 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": 51, "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": "A8JYA2;E9PDW4", "ec_number_list": "", "go_molecular_function": "GO:0008511 sodium:potassium:chloride symporter activity;GO:7770002 sodium:ammonium:chloride symporter activity;GO:0015377 chloride:monoatomic cation symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0097272 ammonium homeostasis;GO:0070634 transepithelial ammonium transport;GO:0034220 monoatomic ion transmembrane transport;GO:0006884 cell volume homeostasis;GO:1902476 chloride transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q13621-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95473-1", "uniprot_id": "SNG4_HUMAN", "mass": 25820.0, "length": 234, "protein_name": "Synaptogyrin-4", "gene_name": "SYNGR4", "organism": "Human", "refseq_name": "synaptogyrin-4", "refseq_ac": "NP_036583", "gene_names_uniprotkb": "SYNGR4", "gene_names_refseq": "SYNGR4", "protein_names_uniprotkb": "Synaptogyrin-4", "protein_names_refseq": "synaptogyrin-4; testis tissue sperm-binding protein Li 72n", "tax_id": 9606, "disease": "", "pathway": " (hsa:23546)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "This gene encodes an integral membrane protein. The gene belongs to the synaptogyrin gene family. Like other members of the family the protein contains four transmembrane regions. The exact function of this protein is unclear. [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": "Q3KP58", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0031594 neuromuscular junction;GO:0030672 synaptic vesicle membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "O95473-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q11201-1", "uniprot_id": "SIA4A_HUMAN", "mass": 39075.0, "length": 340, "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1", "gene_name": "ST3GAL1", "organism": "Human", "refseq_name": "CMP-N-acetylneuraminate-beta-galactosamide- alpha-2,3-sialyltransferase 1", "refseq_ac": "NP_003024", "gene_names_uniprotkb": "ST3GAL1; SIAT4A; SIAT4", "gene_names_refseq": "1; Gal-NAc6S; SIAT4A; SIATFL; ST3GAL1; ST3GalA.1; ST3GalA; ST3GalIA; ST3O", "protein_names_uniprotkb": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1; 2.4.3.2; 2.4.3.4; Alpha 2,3-ST 1; Beta-galactoside alpha-2,3-sialyltransferase 1; Gal-NAc6S; Gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferase; Monosialoganglioside sialyltransferase; SIAT4-A; SIATFL; ST3Gal I; ST3GalA.1; ST3GalI; ST3O; Sialyltransferase 4A", "protein_names_refseq": "CMP-N-acetylneuraminate-beta-galactosamide- alpha-2,3-sialyltransferase 1; Gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferase; SIAT4-A; ST3GalI; alpha 2,3-ST 1; beta-galactoside alpha-2,3-sialyltransferase 1; monosialoganglioside sialyltransferase; sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase); sialyltransferase 4A (beta-galactoside alpha-2,3-sialyltransferase); sialyltransferase 4A (beta-galactoside alpha-2,3-sialytransferase)", "tax_id": 9606, "disease": "", "pathway": " (hsa:6482); (R-HSA-2022854); (R-HSA-4085001); (R-HSA-9683673); (R-HSA-9694548); (R-HSA-9694719); (R-HSA-977068)", "pathway_count": 7, "publication_count": 134, "publication_id_list": "10.1101/2023.09.13.557529;10191093;10206952;10330343;10334995;10405317;10431835;10491328;10504389;10536037;10581036;10742600;10749855;10861246;10947946;11030741;11042166;11042394;11062056;11237011;11279095;11283017;11528398;11588157;11602804;11751519;11821425;11901181;11916006;12177386;12218059;12235148;12473780;12603328;12668675;12743242;14962670;15136692;15213228;15466199;15486459;15501818;15560372;15576474;15620693;16147865;16237198;16319059;16474139;17021253;17123352;1714903;1756715;18632803;19797320;21081508;22692205;22915798;23090970;2373995;24190977;24715725;25576301;25645385;26154972;26811146;26992070;27846572;28832583;29242379;29314611;29393594;29493099;29557506;29632711;29741879;29786170;30779550;31154438;3136930;31719620;31784620;31844290;32157095;32161166;32265295;32350084;32357974;32363391;32366695;32488085;32518941;32676595;32983136;33177111;33203881;33310888;33592498;33936100;33968037;34117209;34185709;34357683;34428449;34528721;34599882;34961524;35251023;35318648;35507766;35580925;36010968;37074911;38034954;39069074;7252518;7559389;7655169;7986008;8027041;8333853;8591035;8611500;8631981;8920913;8985184;9010752;9182658;9199191;9405439;9417100;9597550;9822625;9826427", "class_list": "glycogene;glycosyltransferase", "function": "A beta-galactoside alpha2->3 sialyltransferase involved in terminal sialylation of glycoproteins and glycolipids (PubMed:31784620, PubMed:8027041). Catalyzes the transfer of sialic acid (N-acetyl-neuraminic acid; Neu5Ac) from the nucleotide sugar donor CMP-Neu5Ac onto acceptor Galbeta-(1->3)-GalNAc-terminated glycoconjugates through an alpha2-3 linkage (PubMed:31784620, PubMed:8027041, PubMed:31719620). Adds sialic acid to the core 1 O-glycan, Galbeta-(1->3)-GalNAc-O-Ser/Thr, which is a major structure of mucin-type O-glycans. As part of a homeostatic mechanism that regulates CD8-positive T cell numbers, sialylates core 1 O-glycans of T cell glycoproteins, SPN/CD43 and PTPRC/CD45. Prevents premature apoptosis of thymic CD8-positive T cells prior to peripheral emigration, whereas in the secondary lymphoid organs controls the survival of CD8-positive memory T cells generated following a successful immune response (By similarity). Transfers sialic acid to asialofetuin, presumably onto Galbeta-(1->3)-GalNAc-O-Ser (By similarity). Sialylates GM1a, GA1 and GD1b gangliosides to form GD1a, GM1b and GT1b, respectively (By similarity) (PubMed:8027041)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Overlapping and unique substrate specificities of ST3GAL1 and 2 during hematopoietic and megakaryocytic differentiation., [RefSeq, PubMed]; ST3GAL1 Promotes Malignant Phenotypes in Intrahepatic Cholangiocarcinoma., [RefSeq, PubMed]; ST3GAL1 is a target of the SOX2-GLI1 transcriptional complex and promotes melanoma metastasis through AXL. Publication Status: Online-Only, [RefSeq, PubMed]; Sialylation of CD55 by ST3GAL1 Facilitates Immune Evasion in Cancer., [RefSeq, PubMed]; Structural and functional role of disulphide bonds and substrate binding residues of the human beta-galactoside alpha-2,3-sialyltransferase 1 (hST3Gal1). Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. Correct glycosylation of the encoded protein may be critical to its sialyltransferase activity. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4B. Two transcript variants encoding the same protein have been found for this gene. Other transcript variants may exist, but have not been fully characterized yet. [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": 6, "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": 0, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 372, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 34, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "O60677;Q9UN51", "ec_number_list": "2.4.3.1;2.4.3.2;2.4.3.4;2.4.3.6;2.4.3.7;2.4.3.3;2.4.3.9", "go_molecular_function": "GO:0008373 sialyltransferase activity;GO:0047288 beta-D-galactosyl-(1->3)-N-acetyl-beta-D-galactosaminide alpha-2,3- sialyltransferase;GO:0003836 beta-galactoside (CMP) alpha-2,3-sialyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0032588 trans-Golgi network membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0036211 protein modification process;GO:0006054 N-acetylneuraminate metabolic process;GO:0019082 viral protein processing;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine;GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 881, "hit_score": 17.5, "record_id": "Q11201-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00161-1", "uniprot_id": "SNP23_HUMAN", "mass": 23354.0, "length": 211, "protein_name": "Synaptosomal-associated protein 23", "gene_name": "SNAP23", "organism": "Human", "refseq_name": "synaptosomal-associated protein 23 isoform SNAP23A", "refseq_ac": "NP_003816", "gene_names_uniprotkb": "SNAP23", "gene_names_refseq": "HsT17016; SNAP-23; SNAP23A; SNAP23B; SNAP23", "protein_names_uniprotkb": "Synaptosomal-associated protein 23; SNAP-23; Vesicle-membrane fusion protein SNAP-23", "protein_names_refseq": "synaptosomal-associated protein 23 isoform SNAP23A; synaptosomal-associated protein 23; synaptosomal-associated protein, 23kDa; synaptosome associated protein 23kDa; vesicle-membrane fusion protein SNAP-23", "tax_id": 9606, "disease": "epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:8773); (R-HSA-1236974); (R-HSA-1445148); (R-HSA-199992); (R-HSA-6798695); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013406); (R-HSA-9013409); (R-HSA-9013423); (R-HSA-9035034)", "pathway_count": 13, "publication_count": 436, "publication_id_list": "10.1101/2023.09.13.557529;10036234;10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10619026;10699171;10699464;10724160;10873388;10873802;10958683;10967094;11007481;11058585;11085924;11101518;11149925;11185749;11207612;11237011;11306516;11354632;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11956649;11961559;11994746;12071859;12093360;12096337;12130530;12172552;12195014;12221077;12221096;12242347;12351724;12432077;12456725;12464619;12473120;12531887;12546821;12547822;12556468;12650940;12665586;12665801;12773384;12857875;12860998;12877655;12907671;12923183;12930825;14506234;14512443;14514689;1464587;14675773;14718541;14993220;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15546864;15579468;15601624;15611138;15710388;15728722;15850391;15858067;15866170;15897194;15919790;15944396;15971998;16002401;16112081;16116428;16184169;16217026;16243036;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16880201;16896804;16914516;16917499;16968698;16984405;17064668;17077126;17145773;17196961;17198702;17214551;17244649;17369524;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;17995453;18006505;18045877;18056264;18158243;18218625;18249095;18347018;18363964;18396277;18426980;18578522;18653540;18669648;18691976;18692471;18697831;18786931;18802007;18829452;18835169;18838382;18929667;18973100;19013499;19217269;19252894;19258391;19269969;19413330;19415658;19494238;19534724;19605563;19635168;19651622;19664994;19673492;19713215;19934221;20030946;20068231;20101212;20166139;20233848;20400958;20460433;20591975;20628200;20631154;20660154;20679435;20701589;20810653;20837646;20937701;20967886;21044946;21119010;21148482;21351730;21373644;21406692;21454492;21454505;21454690;21542010;21565175;21613211;21685891;21699497;21730051;21865595;21907143;21936715;21989057;22004470;22096251;22153078;22223895;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22673745;22734669;22911862;22970203;22971344;22992742;23029280;23096567;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23613522;23650620;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24275569;24297911;24335996;24352656;24355937;24366607;24494924;24584464;24859002;24910990;24933155;24960694;24996924;25024229;25083866;25211221;25428919;2550440;25668492;25673874;25678704;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26371245;26529257;26598554;26628301;26887924;26992070;27096001;27117132;27145964;27216196;27278019;27452731;27481945;27555588;27566826;27713499;27798618;27806292;27920218;27986909;28028151;28067230;28112683;28114311;28196833;28356423;28467828;28584191;28825699;28832583;28860633;28882895;28904123;29089502;29146911;29242379;29314611;29339438;29358323;29382922;29393594;29508533;29557506;29632711;29771640;30061681;30811271;30853411;31105010;31217245;31844290;31871319;32157095;32203420;32302585;32350084;32387766;32488085;32938616;32949647;32983136;33091337;33392160;33592498;33936100;33968037;34357683;35132862;35154160;35251023;36184518;36241641;36527930;37086961;37885878;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8094051;8107774;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8663154;8664345;8670801;8692836;8756646;8769096;8798539;8805223;8807639;8810314;8810315;8816443;8939998;8990121;8994827;9013646;9070898;9099726;9111050;9113980;9252344;9268338;9305890;9405671;9418861;9438849;9490638;9497316;9535835;9548756;9582072;9614177;9659915;9670022;9727496;9792683;9822598;9822605;9829970;9843499;9846874;9857026;9988689", "class_list": "", "function": "SNAP23 is essential for germination of EV-D68 replication organelles., [RefSeq, PubMed]; SNAP23-Mediated Perturbation of Cholesterol-Enriched Membrane Microdomain Promotes Extracellular Vesicle Production in Src-Activated Cancer Cells., [RefSeq, PubMed]; SNAREs (soluble N-ethylmaleimide-sensitive factor-attachment protein receptors) are essential proteins for intracellular membrane fusion. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four-helix bundle whose assembly releases energy that drives membrane fusion. The core SNARE complex typically consists of four alpha-helical domains, three from target membrane SNAREs (t-SNAREs) and one from a vesicle SNARE (v-SNARE) (PubMed:10036234, PubMed:11354632, PubMed:8663154, PubMed:9070898). SNAP23 is a t-SNARE (target-SNARE) that resides on target membrane and functions in the fusion of transport vesicles with the plasma membrane in immune cells (PubMed:30811271). In macrophages, regulates the stimulus-dependent vesicular transport of TLR4 from recycling endosomes to the plasma membrane by cooperating with STX11 and thereby plays a critical role in the recognition of microbial components and the induction of innate and adaptive immunity (PubMed:30811271). In skeletal muscle satellite cells, SNAP23 cooperates with its cognate SNAREs VAMP4 and STX11 to facilitate CD36 vesicular transport from endosomes to the plasma membrane, an essential step in muscle regeneration (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane fusion in other tissues. The protein encoded by this gene is structurally and functionally similar to SNAP25 and binds tightly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and fusion. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Syntaxin-4 and SNAP23 are involved in neutrophil degranulation, but not in the release of mitochondrial DNA during NET formation. Publication Status: Online-Only, [RefSeq, PubMed]; Tumor-derived extracellular vesicles delivering TNF-alpha promotes colorectal cancer metastasis via the NF-kB/LAMB3/AKT axis by targeting SNAP23., [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": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "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": "O00162;Q13602;Q6IAE3", "ec_number_list": "", "go_molecular_function": "GO:0019905 syntaxin binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0005925 focal adhesion", "go_biological_process": "GO:0015031 protein transport;GO:0061025 membrane fusion;GO:0006892 post-Golgi vesicle-mediated transport;GO:0006887 exocytosis;GO:0006903 vesicle targeting", "synthesized_glycan_count": 0, "hit_score": 44.1, "record_id": "O00161-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96NL6-1", "uniprot_id": "SCLT1_HUMAN", "mass": 80910.0, "length": 688, "protein_name": "Sodium channel and clathrin linker 1", "gene_name": "SCLT1", "organism": "Human", "refseq_name": "sodium channel and clathrin linker 1 isoform 3", "refseq_ac": "NP_001287827", "gene_names_uniprotkb": "SCLT1; SAP1", "gene_names_refseq": "CAP-1A; CAP1A; SCLT1", "protein_names_uniprotkb": "Sodium channel and clathrin linker 1; Sodium channel-associated protein 1", "protein_names_refseq": "sodium channel and clathrin linker 1 isoform 3; sodium channel-associated protein 1", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861)", "pathway": " (hsa:132320); (R-HSA-5620912)", "pathway_count": 2, "publication_count": 106, "publication_id_list": "11237011;15797711;16357211;17574030;17646400;17719545;18037885;18077418;18694559;18801063;19004860;19081074;19413330;19615748;19940019;20230748;20308558;20399632;20558667;21273506;21422230;21548880;21565611;21620453;21725307;21792235;22179047;22433857;22653444;23141531;23141541;23253480;23301498;23348840;23400999;23481700;23530209;23747070;23769972;23789104;24053599;24089205;24231678;24285566;24469809;24714562;24982133;25047611;25313408;25418920;25576301;25645385;25880248;25892735;26375851;26992070;27846572;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29082582;29242379;29393594;29485866;29493099;29508533;29557506;29632046;29769354;30315122;30410026;30429286;30524438;31217245;31844290;32157095;32253632;32357974;32387766;32502341;32897882;32938616;32983136;33537174;33592498;33717175;33912179;33968037;34087483;34171305;34185709;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36581221;37217939;37246745;37938771", "class_list": "", "function": "Adapter protein that links SCN10A to clathrin. Regulates SCN10A channel activity, possibly by promoting channel internalization (By similarity)., [UniProtKB]; Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations., [RefSeq, PubMed]; Functional study in rat suggests that CAP-1A links clathrin and a sodium channel., [RefSeq, PubMed]; Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1., [RefSeq, PubMed]; Study identified 2 cases with a severe ciliopathy phenotype consistent with oro-facio-digital syndrome type IX; the autozygome of each index harbored a single truncating variant and the affected genes (SCLT1 and TBC1D32/C6orf170) have roles in centrosomal biology and ciliogenesis; findings suggest a role of SCLT1 and TBC1D32 in ciliopathy pathogenesis, [RefSeq, PubMed]; Study results indicate a genome-wide significant association between total alcohol use disorders identification test score in a trauma-exposed cohort and rs1433375, an intergenic single-nucleotide polymorphism located 323 kb upstream of the sodium channel and clathrin linker 1 at 4q28., [RefSeq, PubMed]; This gene encodes an adaptor protein. Studies of a related gene in rat suggest that the encoded protein functions to link clathrin to the sodium channel protein type 10 subunit alpha protein. The encoded protein has also been identified as a component of distal appendages of centrioles that is necessary for ciliogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 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": 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": "A4QN04;Q0VAH2;Q6P2M4", "ec_number_list": "", "go_molecular_function": "GO:0017080 sodium channel regulator activity;GO:0030276 clathrin binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005814 centriole;GO:0036064 ciliary basal body;GO:0097539 ciliary transition fiber", "go_biological_process": "GO:0060271 cilium assembly;GO:0045162 clustering of voltage-gated sodium channels", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q96NL6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92673-1", "uniprot_id": "SORL_HUMAN", "mass": 248426.0, "length": 2214, "protein_name": "Sortilin-related receptor", "gene_name": "SORL1", "organism": "Human", "refseq_name": "sortilin-related receptor preproprotein", "refseq_ac": "NP_003096", "gene_names_uniprotkb": "SORL1; C11orf32", "gene_names_refseq": "C11orf32; LR11; LRP9; SORL1; SORLA; SorLA-1; gp250", "protein_names_uniprotkb": "Sortilin-related receptor; LDLR relative with 11 ligand-binding repeats; LR11; Low-density lipoprotein receptor relative with 11 ligand-binding repeats; SorLA-1; SorLA; Sorting protein-related receptor containing LDLR class A repeats", "protein_names_refseq": "LDLR relative with 11 ligand-binding repeats; low-density lipoprotein receptor relative with 11 ligand-binding repeats; mosaic protein LR11; sortilin-related receptor preproprotein; sortilin-related receptor, L(DLR class) A repeats containing; sorting protein-related receptor containing LDLR class A repeats", "tax_id": 9606, "disease": "Alzheimer's disease 1 (Disease Ontology:DOID:0080348); Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:6653); (R-HSA-977225)", "pathway_count": 2, "publication_count": 217, "publication_id_list": "37639587;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10097139;10319874;10391242;10411933;10583407;10956649;11082041;11237011;11278841;11294867;11401442;11467836;11590439;11821067;118839;12454989;12530537;1270801;14506261;14567678;14764453;15004565;15053742;15064394;15364913;15962837;16174740;16393139;16407538;16531402;16799559;16959974;17326667;17425515;17646382;17855360;18065497;18070888;18292551;1837051;18407551;18449172;18484335;1849145;18507432;18562096;18603531;18991276;19011241;19159218;19658395;19828817;20015111;20068231;20385770;20676056;20807650;21147781;2118650;21220680;21385844;2195544;21994944;22065755;22131221;22299025;22472873;22544926;22645359;23090970;23328677;23333276;23481700;23486467;23565137;23584533;23813966;23977241;2409350;24190977;24366607;24397554;24523320;24714562;24715725;24833601;24893886;25418920;25502872;25505266;25523424;25548167;25576301;25813380;25880248;25892735;26018760;26154972;26375851;26417681;26584636;26668317;26686862;26728094;26807092;26811146;26858303;26929215;26992070;27090790;27322061;27846572;27862975;27893789;27920218;279930;28063628;28218747;28228285;28265003;28467828;28514659;28649982;28832583;28834231;28855257;28871256;28904123;2900981;29242379;29314611;29317506;29393594;29437277;29493099;29508533;29557506;29632046;29741879;29769354;29774024;29786170;29789417;30315122;3035556;30410026;30429286;30448281;30459171;30524438;3053705;30679749;3080684;3094007;31138794;31217245;3142462;31836585;31844290;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33091337;33123756;33141586;33298915;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34171305;34185709;34211107;34357683;34433824;34561969;34932366;35051231;35154160;35561310;35580925;36241641;36581221;3675579;37074911;38368933;38368935;38499808;39226352;39531497;8033412;8097946;8114934;8159701;8464497;8490014;8870004;8940146;9006323;9054935;9157966;9366419;9862427", "class_list": "", "function": "Differential effects of SORL1 deficiency on the endo-lysosomal network in human neurons and microglia. Review article, [RefSeq, PubMed]; Functional characterization of SORL1 variants in cell-based assays to investigate variant pathogenicity., [RefSeq, PubMed]; SorLA restricts TNFalpha release from microglia to shape a glioma-supportive brain microenvironment., [RefSeq, PubMed]; Sorting receptor that directs several proteins to their correct location within the cell (Probable). Along with AP-1 complex, involved Golgi apparatus - endosome sorting (PubMed:17646382). Sorting receptor for APP, regulating its intracellular trafficking and processing into amyloidogenic-beta peptides. Retains APP in the trans-Golgi network, hence preventing its transit through late endosomes where amyloid beta peptides Abeta40 and Abeta42 are generated (PubMed:16174740, PubMed:16407538, PubMed:17855360, PubMed:24523320). May also sort newly produced amyloid-beta peptides to lysosomes for catabolism (PubMed:24523320). Does not affect APP trafficking from the endoplasmic reticulum to Golgi compartments (PubMed:17855360). Sorting receptor for the BDNF receptor NTRK2/TRKB that facilitates NTRK2 trafficking between synaptic plasma membranes, postsynaptic densities and cell soma, hence positively regulates BDNF signaling by controlling the intracellular location of its receptor (PubMed:23977241). Sorting receptor for GDNF that promotes GDNF regulated, but not constitutive secretion (PubMed:21994944). Sorting receptor for the GDNF-GFRA1 complex, directing it from the cell surface to endosomes. GDNF is then targeted to lysosomes and degraded, while its receptor GFRA1 recycles back to the cell membrane, resulting in a GDNF clearance pathway. The SORL1-GFRA1 complex further targets RET for endocytosis, but not for degradation, affecting GDNF-induced neurotrophic activities (PubMed:23333276). Sorting receptor for ERBB2/HER2. Regulates ERBB2 subcellular distribution by promoting its recycling after internalization from endosomes back to the plasma membrane, hence stimulating phosphoinositide 3-kinase (PI3K)-dependent ERBB2 signaling. In ERBB2-dependent cancer cells, promotes cell proliferation (PubMed:31138794). Sorting receptor for lipoprotein lipase LPL. Promotes LPL localization to endosomes and later to the lysosomes, leading to degradation of newly synthesized LPL (PubMed:21385844). Potential sorting receptor for APOA5, inducing APOA5 internalization to early endosomes, then to late endosomes, wherefrom a portion is sent to lysosomes and degradation, another portion is sorted to the trans-Golgi network (PubMed:18603531). Sorting receptor for the insulin receptor INSR. Promotes recycling of internalized INSR via the Golgi apparatus back to the cell surface, thereby preventing lysosomal INSR catabolism, increasing INSR cell surface expression and strengthening insulin signal reception in adipose tissue. Does not affect INSR internalization (PubMed:27322061). Plays a role in renal ion homeostasis, controlling the phospho-regulation of SLC12A1/NKCC2 by STK39/SPAK kinase and PPP3CB/calcineurin A beta phosphatase, possibly through intracellular sorting of STK39 and PPP3CB (By similarity). Stimulates, via the N-terminal ectodomain, the proliferation and migration of smooth muscle cells, possibly by increasing cell surface expression of the urokinase receptor uPAR/PLAUR. This may promote extracellular matrix proteolysis and hence facilitate cell migration (PubMed:14764453). By acting on the migration of intimal smooth muscle cells, may accelerate intimal thickening following vascular injury (PubMed:14764453). Promotes adhesion of monocytes (PubMed:23486467). Stimulates proliferation and migration of monocytes/macrophages (By similarity). Through its action on intimal smooth muscle cells and macrophages, may accelerate intimal thickening and macrophage foam cell formation in the process of atherosclerosis (By similarity). Regulates hypoxia-enhanced adhesion of hematopoietic stem and progenitor cells to the bone marrow stromal cells via a PLAUR-mediated pathway. This function is mediated by the N-terminal ectodomain (PubMed:23486467). Metabolic regulator, which functions to maintain the adequate balance between lipid storage and oxidation in response to changing environmental conditions, such as temperature and diet. The N-terminal ectodomain negatively regulates adipose tissue energy expenditure, acting through the inhibition the BMP/Smad pathway (By similarity). Sorting receptor that may regulate signaling by the heterodimeric neurotrophic cytokine CLCF1-CRLF1 bound to the CNTFR receptor by promoting the endocytosis of the tripartite complex CLCF1-CRLF1-CNTFR and lysosomal degradation (PubMed:26858303). May regulate IL6 signaling, decreasing cis signaling, possibly by interfering with IL6-binding to membrane-bound IL6R, while up-regulating trans signaling via soluble IL6R (PubMed:28265003)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer's disease., [RefSeq, PubMed]; This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 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": 29, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 19, "reported_o_glycosites_with_glycan": 14, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 29, "total_reported_o_glycosites": 14, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 29, "total_o_glycosites": 14, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 7, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 125, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 101, "disease_count": 2, "glyco_site_count": 48, "binding_glycan_count": 0, "secondary_ac_list": "B2RNX7;Q92856", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0001540 amyloid-beta binding;GO:0031267 small GTPase binding;GO:0005041 low-density lipoprotein particle receptor activity;GO:0030169 low-density lipoprotein particle binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005641 nuclear envelope lumen;GO:0005768 endosome;GO:0005769 early endosome", "go_biological_process": "GO:0001960 negative regulation of cytokine-mediated signaling pathway;GO:1902966 positive regulation of protein localization to early endosome;GO:1904179 positive regulation of adipose tissue development;GO:0045053 protein retention in Golgi apparatus;GO:0007218 neuropeptide signaling pathway", "synthesized_glycan_count": 0, "hit_score": 36.2, "record_id": "Q92673-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UPS6-1", "uniprot_id": "SET1B_HUMAN", "mass": 212803.0, "length": 1966, "protein_name": "Histone-lysine N-methyltransferase SETD1B", "gene_name": "SETD1B", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase SETD1B", "refseq_ac": "NP_001340274", "gene_names_uniprotkb": "SETD1B; KIAA1076; KMT2G; SET1B", "gene_names_refseq": "IDDSELD; KMT2G; SETD1B; Set1B", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase SETD1B; 2.1.1.364; Lysine N-methyltransferase 2G; SET domain-containing protein 1B; hSET1B", "protein_names_refseq": "SET domain-containing protein 1B; histone-lysine N-methyltransferase SETD1B; lysine N-methyltransferase 2G", "tax_id": 9606, "disease": "neurodevelopmental disorder with speech impairment and dysmorphic facies (Disease Ontology:DOID:0070417); intellectual developmental disorder with seizures and language delay (MONDO:MONDO:0033559)", "pathway": " (hsa:23067); (R-HSA-3214841); (R-HSA-8936459); (R-HSA-9772755)", "pathway_count": 4, "publication_count": 160, "publication_id_list": "10617663;10949293;11959841;12123582;12130538;12393701;12453418;12482972;12483298;12540855;12576332;12670868;14536086;14636557;14690610;14992727;15145825;15199122;15235609;15964846;16118227;16199523;16227571;16239140;16292313;16519522;16628190;16682010;16805913;16829959;16878130;16892064;17021013;17355966;17500065;17544230;17612494;17671196;17707229;17925232;17998332;18172012;18316480;18598942;18829457;18829459;18838386;18838538;19103755;19114653;19124460;19187761;19509293;19556245;19690332;19808676;20018852;20339092;20575550;20716525;20876458;20934997;20961854;21106533;21124902;21129147;21131905;21131967;21135039;21196496;21220120;21252065;21725049;21779408;21832073;22099308;22266653;22327296;22652693;22665483;22777353;22927943;22939622;23186163;23481700;23508102;23995757;24244196;24275569;24368734;24680668;24715725;25561738;25576301;25593305;25645385;26010396;26324722;26811146;26886794;26992070;27563068;27698142;27760318;27920218;28182322;28398509;28832583;28834231;28904123;29138278;29322246;29351928;29393594;29897600;29937342;30524438;30620550;31110234;31400120;31440728;31485071;31544921;31685013;31844290;32157095;32357974;32387766;32488085;32502341;32546566;32897882;32938616;32938750;33298915;33657400;33912179;33936100;33968037;34012049;34087483;34171305;34345025;34405274;34509645;34933446;35033534;35051231;35190547;35439434;35580925;36010968;36241641;36284347;37030068;38003223;38048716;39235528;39531497;40307207", "class_list": "", "function": "Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome., [RefSeq, PubMed]; Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism (PubMed:17355966, PubMed:25561738). Part of chromatin remodeling machinery, forms H3K4me1, H3K4me2 and H3K4me3 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:17355966, PubMed:25561738). Plays an essential role in regulating the transcriptional programming of multipotent hematopoietic progenitor cells and lymphoid lineage specification during hematopoiesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Molecular insight into the SETD1A/B N-terminal region and its interaction with WDR82., [RefSeq, PubMed]; Phenotypic spectrum of SETD1B-related disorder: Myoclonic absence seizures and concurrent intellectual disability - Insights from two cases., [RefSeq, PubMed]; SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008]., [RefSeq]; SETD1B mutations confer apoptosis resistance and BCL2 independence in B cell lymphoma., [RefSeq, PubMed]", "predicted_glycosites": 8, "predicted_n_glycosites": 0, "predicted_o_glycosites": 8, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 9, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "F6MFW1", "ec_number_list": "2.1.1.364;2.1.1.-;2.3.1.48;2.3.1.-;3.5.1.-;3.5.1.98;2.1.1.366;2.1.1.85;2.3.1.57;2.1.1.319;2.1.1.370;2.1.1.371;2.1.1.354;3.1.26.n2;3.6.4.13;5.6.2.5;2.1.1.359;2.1.1.355;2.1.1.362;2.1.1.361", "go_molecular_function": "GO:0003723 RNA binding;GO:0140945 histone H3K4 monomethyltransferase activity;GO:0140938 histone H3 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0005694 chromosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "Q9UPS6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PF05-1", "uniprot_id": "TT23L_HUMAN", "mass": 40837.0, "length": 361, "protein_name": "Tetratricopeptide repeat protein 23-like", "gene_name": "TTC23L", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 23-like isoform 1", "refseq_ac": "NP_001304878", "gene_names_uniprotkb": "TTC23L", "gene_names_refseq": "MC25-1; TTC23L", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 23-like", "protein_names_refseq": "tetratricopeptide repeat protein 23-like isoform 1; tetratricopeptide repeat protein 23-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:153657)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;25751302;29242379;33912179;35051231;35580925;39531497", "class_list": "", "function": "FLJ25439 is involved in pathways related to anti-apoptosis, protein folding, the cell cycle, and cytoskeleton regulation., [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": 13, "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": "G8IJH6;Q6RGS4;Q8N7R3;Q96LJ2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005819 spindle;GO:0030496 midbody", "go_biological_process": "GO:0034976 response to endoplasmic reticulum stress", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q6PF05-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9ULF5-1", "uniprot_id": "S39AA_HUMAN", "mass": 94132.0, "length": 831, "protein_name": "Zinc transporter ZIP10", "gene_name": "SLC39A10", "organism": "Human", "refseq_name": "zinc transporter ZIP10 precursor", "refseq_ac": "NP_001120729", "gene_names_uniprotkb": "SLC39A10; KIAA1265; ZIP10", "gene_names_refseq": "LZT-Hs2; SLC39A10; ZIP10", "protein_names_uniprotkb": "Zinc transporter ZIP10; Solute carrier family 39 member 10; ZIP-10; Zrt- and Irt-like protein 10", "protein_names_refseq": "ZIP-10; ZRT/IRT-like protein 10; solute carrier family 39 (metal ion transporter), member 10; solute carrier family 39 (zinc transporter), member 10; zinc transporter 10; zinc transporter ZIP10 precursor; zinc transporter ZIP10; zrt- and Irt-like protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:57181); (R-HSA-442380)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10364181;10610721;10681536;11237011;11301334;12032886;12068297;12839489;14525538;15322118;15642354;16638970;16804107;17359283;17550612;18003899;18390834;18452278;18578522;18691976;19064571;19265717;19651622;19664994;19755388;20068231;21406692;23186163;23584533;24190977;24587242;25200496;25813380;26992070;27274087;27846572;27920218;28832583;28834231;28904123;29242379;29314611;29393594;29493099;29557506;30429286;30520657;31324691;31611695;31844290;32157095;32350084;32387766;32502341;32797246;32938616;33592498;33912179;33936100;33968037;34087483;34357683;34405274;34509645;34706747;35051231;35251023;35580925;36215666;36409527;36454509;37074911;37524874;38665916", "class_list": "", "function": "A significant correlation between ZIP10 mRNA expressions with aggressiveness of RCC. Erratum:[Gene. 2022 Apr 20;819:146311. doi: 10.1016/j.gene.2022.146311. PMID: 35219547], [RefSeq, PubMed]; Functional characterization of SLC39 family members ZIP5 and ZIP10 in overexpressing HEK293 cells reveals selective copper transport activity. Erratum:[Biometals. 2024 Aug;37(4):1037-1038. doi: 10.1007/s10534-024-00615-z. PMID: 38913288], [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SLC39A10 promotes malignant phenotypes of gastric cancer cells by activating the CK2-mediated MAPK/ERK and PI3K/AKT pathways., [RefSeq, PubMed]; The ZIP6/ZIP10 heteromer is essential for the zinc-mediated trigger of mitosis., [RefSeq, PubMed]; The bZIP transcription factor BATF3/ZIP-10 suppresses innate immunity by attenuating PMK-1/p38 signaling., [RefSeq, PubMed]; ZIP10 drives osteosarcoma proliferation and chemoresistance through ITGA10-mediated activation of the PI3K/AKT pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Zinc and its transporters, ZIP6 and ZIP10, are required for the breast cancer cells motility stimulated with high glucose level, such as in diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A10 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008]., [RefSeq]; Zinc-influx transporter (PubMed:17359283, PubMed:27274087, PubMed:30520657). When associated with SLC39A6, the heterodimer formed by SLC39A10 and SLC39A6 mediates cellular zinc uptake to trigger cells to undergo epithelial-to-mesenchymal transition (EMT) (PubMed:23186163). SLC39A10-SLC39A6 heterodimers play also an essential role in initiating mitosis by importing zinc into cells to initiate a pathway resulting in the onset of mitosis (PubMed:32797246). Plays an important for both mature B-cell maintenance and humoral immune responses (By similarity). When associated with SLC39A10, the heterodimer controls NCAM1 phosphorylation and integration into focal adhesion complexes during EMT (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, 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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 14, "disease_count": 0, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "A8K5C6;B4DGU0;Q3MJA4;Q68CR5;Q6DKH6;Q9Y3Z1", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0008160 protein tyrosine phosphatase activator activity;GO:0140410 monoatomic cation:bicarbonate symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0071577 zinc ion transmembrane transport;GO:0001837 epithelial to mesenchymal transition;GO:0030003 intracellular monoatomic cation homeostasis;GO:0071578 zinc ion import across plasma membrane;GO:0006829 zinc ion transport", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q9ULF5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQQ7-1", "uniprot_id": "S35H1_HUMAN", "mass": 40432.0, "length": 365, "protein_name": "Solute carrier family 35 member H1", "gene_name": "SLC35H1", "organism": "Human", "refseq_name": "solute carrier family 35 member H1 isoform c", "refseq_ac": "NP_001268386", "gene_names_uniprotkb": "SLC35H1; C20orf5; CGI-15; OVCOV1; SLC35C2", "gene_names_refseq": "BA394O2.1; C20orf5; CGI-15; OVCOV1; SLC35C2; SLC35H1", "protein_names_uniprotkb": "Solute carrier family 35 member H1; Ovarian cancer-overexpressed gene 1 protein; Solute carrier family 35 member C2", "protein_names_refseq": "ovarian cancer-overexpressed gene 1 protein; solute carrier family 35 (GDP-fucose transporter), member C2; solute carrier family 35 member C2; solute carrier family 35 member H1 isoform c", "tax_id": 9606, "disease": "", "pathway": " (hsa:51006)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "11237011;11856893;12461647;17081983;18578522;18669648;19413330;19651622;20058876;20068231;20166139;20837470;22424782;23186163;23481700;24715725;25418920;25576301;25645385;26992070;27600516;28218747;28228285;28514659;28834231;28904123;29242379;29437277;29557506;29769354;29786170;29789417;30315122;30410026;30429286;30484775;31154438;31844290;31937595;32157095;32350084;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33592498;33691108;33936100;33968037;34087483;34171305;34185709;34509645;35051231;35580925;36010968;36215666;36241641;37938771;38270391", "class_list": "glycogene", "function": "Assignment of OVCOV1 (alias CGI-15) to human chromosome 20 band q13.1-->q13.2 by fluorescent in situ hybridization, [RefSeq, PubMed]; In vivo evidence for GDP-fucose transport in the absence of transporter SLC35C1 and putative transporter SLC35C2., [RefSeq, PubMed]; Putative GDP-fucose transporter., [UniProtKB, PubMed, PubMed]; This gene encodes a member of the triose-phosphate transporter protein family. This gene is regulated by oxygen tension, is induced in hypoxic trophoblast cells, and is overexpressed in ovarian cancer. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]., [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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 419, "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": "B7Z6V6;E1P5T0;Q53GK3;Q5JW05;Q96CJ8;Q9Y304", "ec_number_list": "", "go_molecular_function": "GO:0015297 antiporter activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane;GO:0005801 cis-Golgi network;GO:0005793 endoplasmic reticulum-Golgi intermediate compartment;GO:0016020 membrane", "go_biological_process": "GO:0015786 UDP-glucose transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9NQQ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92959-1", "uniprot_id": "SO2A1_HUMAN", "mass": 70044.0, "length": 643, "protein_name": "Solute carrier organic anion transporter family member 2A1", "gene_name": "SLCO2A1", "organism": "Human", "refseq_name": "solute carrier organic anion transporter family member 2A1", "refseq_ac": "NP_005621", "gene_names_uniprotkb": "SLCO2A1; OATP2A1; SLC21A2", "gene_names_refseq": "MATR1; OATP2A1; PGT; PHOAD; PHOAR2; SLC21A2; SLCO2A1", "protein_names_uniprotkb": "Solute carrier organic anion transporter family member 2A1; OATP2A1; PGT; PHOAR2; Prostaglandin transporter; SLC21A2; SLCO2A1; Solute carrier family 21 member 2", "protein_names_refseq": "matrin F/G 1; solute carrier family 21 (prostaglandin transporter), member 2; solute carrier organic anion transporter family member 2A1", "tax_id": 9606, "disease": "primary hypertrophic osteoarthropathy (Disease Ontology:DOID:14283); hypertrophic osteoarthropathy, primary, autosomal dominant (MONDO:MONDO:0008172); hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (MONDO:MONDO:0013756)", "pathway": " (hsa:6578); (R-HSA-5619095); (R-HSA-879518)", "pathway_count": 3, "publication_count": 43, "publication_id_list": "10358072;10484490;10601278;11159893;11237011;11316767;11997326;12351693;14993604;15044627;15657371;15864125;16339169;16971491;19797118;20483723;22197487;22331663;22553128;22696055;23509104;23963968;25392532;25527620;26692285;26992070;27169804;29204966;29557506;30343886;32157095;33852188;35051231;35307651;35580925;36706979;37906648;37915296;37938771;38644096;38755710;8787677;9618293", "class_list": "", "function": "Clinical and genetic characteristics of Chinese patients diagnosed with chronic enteropathy associated with SLCO2A1 gene. Publication Status: Online-Only, [RefSeq, PubMed]; Evaluation of ADRB2 and OATP2A1 genetic polymorphisms in Indian patients with primary open-angle glaucoma., [RefSeq, PubMed]; Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review. Review article, [RefSeq, PubMed]; Human endometrial stromal cells treated with a combination of cAMP and medroxyprogesterone acetate to induce decidualization showed an increase in protein and mRNA levels., [RefSeq, PubMed]; Lack of cutis verticis gyrata is associated with c.1279_1290del12 of SLCO2A1 in 43 Japanese patients with pachydermoperiostosis., [RefSeq, PubMed]; Mediates the transport of prostaglandins (PGs, mainly PGE2, PGE1, PGE3, PGF2alpha, PGD2, PGH2) and thromboxanes (thromboxane B2) across the cell membrane (PubMed:11997326, PubMed:26692285, PubMed:8787677). PGs and thromboxanes play fundamental roles in diverse functions such as intraocular pressure, gastric acid secretion, renal salt and water transport, vascular tone, and fever (PubMed:15044627). Plays a role in the clearance of PGs from the circulation through cellular uptake, which allows cytoplasmic oxidation and PG signal termination (PubMed:8787677). PG uptake is dependent upon membrane potential and involves exchange of a monovalent anionic substrate (PGs exist physiologically as an anionic monovalent form) with a stoichiometry of 1:1 for divalent anions or of 1:2 for monovalent anions (PubMed:29204966). Uses lactate, generated by glycolysis, as a counter-substrate to mediate PGE2 influx and efflux (PubMed:11997326). Under nonglycolytic conditions, metabolites other than lactate might serve as counter-substrates (PubMed:11997326). Although the mechanism is not clear, this transporter can function in bidirectional mode (PubMed:29204966). When apically expressed in epithelial cells, it facilitates transcellular transport (also called vectorial release), extracting PG from the apical medium and facilitating transport across the cell toward the basolateral side, whereupon the PG exits the cell by simple diffusion (By similarity). In the renal collecting duct, regulates renal Na+ balance by removing PGE2 from apical medium (PGE2 EP4 receptor is likely localized to the luminal/apical membrane and stimulates Na+ resorption) and transporting it toward the basolateral membrane (where PGE2 EP1 and EP3 receptors inhibit Na+ resorption) (By similarity). Plays a role in endometrium during decidualization, increasing uptake of PGs by decidual cells (PubMed:16339169). Involved in critical events for ovulation (PubMed:27169804). Regulates extracellular PGE2 concentration for follicular development in the ovaries (By similarity). Expressed intracellularly, may contribute to vesicular uptake of newly synthesized intracellular PGs, thereby facilitating exocytotic secretion of PGs without being metabolized (By similarity). Essential core component of the major type of large-conductance anion channel, Maxi-Cl, which plays essential roles in inorganic anion transport, cell volume regulation and release of ATP and glutamate not only in physiological processes but also in pathological processes (By similarity). May contribute to regulate the transport of organic compounds in testis across the blood-testis-barrier (Probable)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of prostaglandins in numerous tissues. [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": 3, "mined_n_glycosites": 3, "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": 0, "reported_glycation": 0, "reported_snv": 29, "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": "Q86V98;Q8IUN2", "ec_number_list": "", "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0015132 prostaglandin transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0005764 lysosome;GO:0009925 basal plasma membrane", "go_biological_process": "GO:0006869 lipid transport;GO:0043252 sodium-independent organic anion transport;GO:0015732 prostaglandin transport;GO:0006811 monoatomic ion transport;GO:0055085 transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q92959-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TER0-1", "uniprot_id": "SNED1_HUMAN", "mass": 152204.0, "length": 1413, "protein_name": "Sushi, nidogen and EGF-like domain-containing protein 1", "gene_name": "SNED1", "organism": "Human", "refseq_name": "sushi, nidogen and EGF-like domain-containing protein 1 precursor", "refseq_ac": "NP_001073906", "gene_names_uniprotkb": "SNED1", "gene_names_refseq": "IRE-BP1; SNED1; SST3; Snep", "protein_names_uniprotkb": "Sushi, nidogen and EGF-like domain-containing protein 1; IRE-BP1; Insulin-responsive sequence DNA-binding protein 1", "protein_names_refseq": "insulin responsive sequence DNA binding protein-1; sushi, nidogen and EGF-like domain-containing protein 1 precursor; sushi, nidogen and EGF-like domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:25992)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;15194686;19664994;22028470;23584533;26992070;27862975;29557506;30429286;30459171;31154438;31848261;33724335;33968037;34171305;35051231;37074911", "class_list": "", "function": "", "predicted_glycosites": 12, "predicted_n_glycosites": 11, "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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 70, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "B5MDC3;B7WNK6;B7WPM0;Q336F4;Q336F5;Q8N369;Q8TEP7", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005112 Notch binding", "go_cellular_component": "GO:0031012 extracellular matrix", "go_biological_process": "GO:0007160 cell-matrix adhesion", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q8TER0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y226-1", "uniprot_id": "S22AD_HUMAN", "mass": 60862.0, "length": 551, "protein_name": "Solute carrier family 22 member 13", "gene_name": "SLC22A13", "organism": "Human", "refseq_name": "solute carrier family 22 member 13", "refseq_ac": "NP_004247", "gene_names_uniprotkb": "SLC22A13; OCTL1; ORCTL3", "gene_names_refseq": "OAT10; OCTL1; OCTL3; ORCTL-3; ORCTL3; SLC22A13", "protein_names_uniprotkb": "Solute carrier family 22 member 13; OAT10; ORCTL-3; ORCTL3; Organic anion transporter 10; Organic cation transporter-like 3", "protein_names_refseq": "organic anion transporter 10; organic cationic transporter-like 3; organic-cation transporter like 3; solute carrier family 22 (organic anion transporter), member 13; solute carrier family 22 (organic anion/urate transporter), member 13; solute carrier family 22 member 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:9390); (R-HSA-196807)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10072596;10231028;10331643;10613898;11237011;11248244;11594753;11788603;11866528;11991719;12359228;12547821;12574164;12790796;13563527;14516279;14966140;15090606;15137942;15381699;15674325;16118205;1637327;16690024;17402747;17604275;17641676;17868694;17914902;18411268;18984734;19282870;19531469;20388704;2129526;21504897;21699903;21933152;21994945;22701565;22822066;23212377;23230272;24717514;24847004;25001539;25531177;29242379;29557506;31780526;31844290;32906142;33087354;35144162;35462902;35926947;36215666;38222853;4349867;8182091;8289818;8527488;8575745;8809081;9473669", "class_list": "", "function": "A dysfunctional missense variant of OAT10 decreases both gout risk and serum uric acid levels, suggesting OAT10 to be physiologically involved in urate reabsorption in the human kidney., [RefSeq, PubMed]; Anion antiporter that mediates the transport of urate, orotate and nicotinate in exchange for organic or inorganic anions (PubMed:18411268, PubMed:31780526, PubMed:35144162, PubMed:35462902). Translocates urate and orotate across the apical membrane of proximal tubule epithelial cells and involved in urate renal reabsorption (PubMed:18411268, PubMed:31780526, PubMed:35144162). Possibly involved in orotate renal reabsorption and nicotinate intestinal reabsorption (PubMed:18411268, PubMed:35144162). Mediates urate uptake by an exchange with organic anions such as (S)-lactate, succinate, glutathione and nicotinate (PubMed:18411268). Urate and orotate transports are Cl(-)-dependent (PubMed:35144162, PubMed:35462902). Shows similar transport characteristics as the urate/orotate renal antiporter SLC22A12/URAT1 and may act as a compensator of SLC22A12/URAT1 in certain conditions (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout. Publication Status: Online-Only, [RefSeq, PubMed]; Functional characterization of human organic anion transporter 10 (OAT10/SLC22A13) as an orotate transporter., [RefSeq, PubMed]; Functional coupling of organic anion transporter OAT10 (SLC22A13) and monocarboxylate transporter MCT1 (SLC16A1) influencing the transport function of OAT10., [RefSeq, PubMed]; ORCTL3 protein causes cell death in v-src-transformed cells and in various human tumor cell lines but not in normal cells or untransformed cell lines., [RefSeq, PubMed]; SLC22A13 is a new urate and high affinity nicotinate transporter, [RefSeq, PubMed]; Since ORCTL3 targets fatty acid metabolism in transformed cells and induces an ER stress specifically in these cells, it reveals a novel therapeutic interference option for tumor cells. Review article, [RefSeq, PubMed]; This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 4. The encoded protein is a transmembrane protein involved in the transport of small molecules. This protein can function to mediate urate uptake and is a high affinity nicotinate exchanger in the kidneys and the intestine. [provided by RefSeq, Sep 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": 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": 17, "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": "B2RCV9;Q8IYG1", "ec_number_list": "", "go_molecular_function": "GO:0015143 urate transmembrane transporter activity;GO:0090416 nicotinate transmembrane transporter activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0045922 negative regulation of fatty acid metabolic process;GO:2001142 nicotinate transport;GO:0015747 urate transport;GO:0034355 NAD+ biosynthetic process via the salvage pathway;GO:0002854 positive regulation of T cell mediated cytotoxicity directed against tumor cell target", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9Y226-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96QK1-1", "uniprot_id": "VPS35_HUMAN", "mass": 91707.0, "length": 796, "protein_name": "Vacuolar protein sorting-associated protein 35", "gene_name": "VPS35", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 35", "refseq_ac": "NP_060676", "gene_names_uniprotkb": "VPS35; MEM3; TCCCTA00141", "gene_names_refseq": "MEM3; PARK17; VPS35", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 35; Maternal-embryonic 3; Vesicle protein sorting 35; hVPS35", "protein_names_refseq": "hVPS35; maternal-embryonic 3; vacuolar protein sorting 35 homolog; vacuolar protein sorting-associated protein 35", "tax_id": 9606, "disease": "Parkinson's disease 17 (Disease Ontology:DOID:0060897); brain cancer (Disease Ontology:DOID:1319); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:55737); (R-HSA-3238698)", "pathway_count": 2, "publication_count": 188, "publication_id_list": "10694878;11031247;11062004;11102511;11112353;11230166;11231171;11237011;11433298;12717451;15078903;15247922;16364628;16645052;16678095;16678096;17108000;17117926;17141155;17397399;17868075;17891154;18160347;18160348;18193032;18193037;18430724;18991276;19442504;19531583;19553991;19566487;19619488;19651622;19664994;19837038;20068231;20164305;20477987;20533886;20826466;20923837;21554866;21725318;21725319;21763482;21763483;21768372;21886182;22027831;22041890;22046319;22070227;22094269;22094272;22108505;22513087;22517097;22653731;22784633;22888000;22952392;22983114;23148298;23260141;23301498;23331060;23395371;23452853;23481700;23563491;24344282;24366607;24714562;24715725;24819384;24980502;25418920;25576301;25693203;25892735;26154972;26375851;26728094;26768311;26811146;26853435;26929215;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28397838;28467828;28832583;28834231;28855257;28892079;28904123;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30122350;30213940;30315122;30397120;30410026;30429286;30484775;30524438;30573663;30626607;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32870666;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34509645;34725712;34932366;35008409;35051231;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37938771;37950040;38368930;38409392;38665916;40914422;8167409;8262072;8985181", "class_list": "", "function": "(Microbial infection) The heterotrimeric retromer cargo-selective complex (CSC) mediates the exit of human papillomavirus from the early endosome and the delivery to the Golgi apparatus., [UniProtKB, PubMed, PubMed]; Acts as a component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The CSC seems to associate with the cytoplasmic domain of cargo proteins predominantly via VPS35; however, these interactions seem to be of low affinity and retromer SNX proteins may also contribute to cargo selectivity thus questioning the classical function of the CSC. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway (PubMed:30213940). The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins. The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5 (Probable). Required for retrograde transport of lysosomal enzyme receptor IGF2R and SLC11A2. Required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA) (PubMed:15078903, PubMed:15247922, PubMed:20164305). Required for endosomal localization of WASHC2C (PubMed:22070227, PubMed:28892079). Mediates the association of the CSC with the WASH complex via WASHC2 (PubMed:22070227, PubMed:24819384, PubMed:24980502). Required for the endosomal localization of TBC1D5 (PubMed:20923837)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The impact of VPS35 D620N mutation on alternative autophagy and its reversal by estrogen in Parkinson's disease. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq, Jul 2008]., [RefSeq]; VPS35 and retromer dysfunction in Parkinson's disease. Review article, [RefSeq, PubMed]; VPS35 promotes gastric cancer progression through integrin/FAK/SRC signalling-mediated IL-6/STAT3 pathway activation in a YAP-dependent manner., [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": 2, "reported_glycation": 0, "reported_snv": 5, "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": "Q561W2;Q9H016;Q9H096;Q9H4P3;Q9H8J0;Q9NRS7;Q9NVG2;Q9NX80;Q9NZK2", "ec_number_list": "", "go_molecular_function": "GO:0031748 D1 dopamine receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0030906 retromer, cargo-selective complex;GO:0099073 mitochondrion-derived vesicle;GO:0005768 endosome;GO:0005769 early endosome", "go_biological_process": "GO:0050882 voluntary musculoskeletal movement;GO:0098887 neurotransmitter receptor transport, endosome to postsynaptic membrane;GO:2000331 regulation of terminal button organization;GO:0090326 positive regulation of locomotion involved in locomotory behavior;GO:0099639 neurotransmitter receptor transport, endosome to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 19.1, "record_id": "Q96QK1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A7XYQ1-1", "uniprot_id": "SOBP_HUMAN", "mass": 92658.0, "length": 873, "protein_name": "Sine oculis-binding protein homolog", "gene_name": "SOBP", "organism": "Human", "refseq_name": "sine oculis-binding protein homolog", "refseq_ac": "NP_060483", "gene_names_uniprotkb": "SOBP; JXC1", "gene_names_refseq": "JXC1; MRAMS; SOBP", "protein_names_uniprotkb": "Sine oculis-binding protein homolog; Jackson circler protein 1", "protein_names_refseq": "jackson circler protein 1; sine oculis-binding protein homolog", "tax_id": 9606, "disease": "intellectual disability, anterior maxillary protrusion, and strabismus (MONDO:MONDO:0013353)", "pathway": " (hsa:55084)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;21035105;23086935;30524438;31686349;31844290;32387766;33742531;33784000;34357683;34509645;35051231;35561310;37026617", "class_list": "", "function": "CircSOBP Inhibits Bladder Cancer Proliferation and Metastasis by Regulating the miR-200a-3p/PTEN Axis and Participating in the Immune Response., [RefSeq, PubMed]; Identification of MEG8/miR-378d/SOBP axis as a novel regulatory network and associated with immune infiltrates in ovarian carcinoma by integrated bioinformatics analysis., [RefSeq, PubMed]; Implicated in development of the cochlea., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Novel circular RNA circSOBP governs amoeboid migration through the regulation of the miR-141-3p/MYPT1/p-MLC2 axis in prostate cancer., [RefSeq, PubMed]; The intragenic exon rearrangements (IERs) involved in SOBP (6q21) exon 2 and 3 and AUTS2 (7q11.22) exon 2-4 were the molecular lesions specific to tumors and were frequently detected in non-Hodgkin B cell lymphoma (B-NHL) samples. These IERs constitute novel genetic alterations of B-NHL, which might be associated with tumorigenesis and be useful as genetic biological markers., [RefSeq, PubMed]; The protein encoded by this gene is a nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011]., [RefSeq]; This study shows mutated SOBP involvement in syndromic and nonsyndromic ID with psychosis in humans., [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": 28, "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": "B0QZ12;Q5BJD4;Q8N2B2", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0032184 SUMO polymer binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0042472 inner ear morphogenesis;GO:0050890 cognition;GO:0048513 animal organ development;GO:0090102 cochlea development", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "A7XYQ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BRY0-1", "uniprot_id": "S39A3_HUMAN", "mass": 33601.0, "length": 314, "protein_name": "Zinc transporter ZIP3", "gene_name": "SLC39A3", "organism": "Human", "refseq_name": "zinc transporter ZIP3 isoform a", "refseq_ac": "NP_653165", "gene_names_uniprotkb": "SLC39A3; ZIP3", "gene_names_refseq": "SLC39A3; ZIP-3; ZIP3", "protein_names_uniprotkb": "Zinc transporter ZIP3; Solute carrier family 39 member 3; ZIP-3; Zrt- and Irt-like protein 3", "protein_names_refseq": "ZRT/IRT-like protein 3; solute carrier family 39 (zinc transporter), member 3; zinc transporter 3; zinc transporter ZIP3 isoform a; zinc transporter ZIP3; zrt- and Irt-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:29985); (R-HSA-442380)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10364181;10610721;10681536;11237011;11301334;12032886;12068297;12839489;14525538;14525987;15322118;15642354;16638970;16804107;17081983;17359283;17550612;18003899;18279033;18390834;18669648;18691976;19265717;19308021;19651622;19755388;20068231;21053094;21613827;22427155;24715725;25502872;25576301;26992070;28832583;28904123;29242379;29393594;29557506;30429286;31092671;31217245;31611695;31844290;32157095;32265295;32350084;32357974;32387766;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34171305;34357683;35051231;35154160;35251023;35580925;36010968;36215666", "class_list": "", "function": "Data show that the combination of concurrent zinc, ZIP3, and RREB-1 changes represent early events in the development of adenocarcinoma., [RefSeq, PubMed]; Gene expression regulation of ZIPs after zinc supplementation., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The metallothionein gene had a higher expression in the blood, when compared to zinc transporters ZnT-1, Zip-1, and Zip-3 (p=0.01 in obese patients., [RefSeq, PubMed]; These results support a concept that downregulation of RREB-1 causes downregulation of ZIP3, which results in decreased zinc in pancreatic premalignant and carcinoma cells, [RefSeq, PubMed]; Transporter for the divalent cation Zn(2+). Mediates the influx of Zn(2+) into cells from extracellular space. Controls Zn(2+) accumulation into dentate gyrus granule cells in the hippocampus. Mediates Zn(2+) reuptake from the secreted milk within the alveolar lumen., [UniProtKB, UniProtKB]; ZIP1, ZIP2 and ZIP3 may play cell-specific roles in zinc homeostasis rather than primary roles in the acquisition of dietary zinc, [RefSeq, PubMed]; ZiP2 and Zip3 are down regulated in malignant 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KMJ3;Q8WUG1", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016324 apical plasma membrane;GO:0098686 hippocampal mossy fiber to CA3 synapse", "go_biological_process": "GO:0071577 zinc ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q9BRY0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NSC7-1", "uniprot_id": "SIA7A_HUMAN", "mass": 68564.0, "length": 600, "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1", "gene_name": "ST6GALNAC1", "organism": "Human", "refseq_name": "alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 isoform 1", "refseq_ac": "NP_060884", "gene_names_uniprotkb": "ST6GALNAC1; PRO848; SIAT7A", "gene_names_refseq": "HSY11339; SIAT7A; ST6GALNAC1; ST6GalNAcI; STYI", "protein_names_uniprotkb": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1; 2.4.3.3; GalNAc alpha-2,6-sialyltransferase I; SIAT7-A; ST6GalNAc I; ST6GalNAc-I; ST6GalNAcI; Sialyltransferase 7A; hST6GalNAc-I", "protein_names_refseq": "GalNAc alpha-2, 6-sialyltransferase I, long form; SIAT7-A; ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1; ST6 GalNAc alpha-2,6-sialyltransferase 1; ST6GALNAC1, alpha-2,6-sialyltransferase 1; ST6GalNAc I; alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 isoform 1; alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1; galNAc alpha-2,6-sialyltransferase I; hST6GalNAc-I; sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1, 3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A; sialyltransferase 7A", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589)", "pathway": " (hsa:55808); (R-HSA-4085001)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10.1038/emboj.2013.79;10191093;10206952;10330343;10334995;10405317;10431835;10504389;10536037;10581036;10742600;10749855;10861246;10947946;11062056;11237011;11279095;11528398;11602804;11751519;11916006;12177386;12235148;12473780;12603328;12668675;12743242;12820722;12975309;14962670;15136692;15213228;15466199;15501818;15576474;16147865;16237198;16319059;17081983;17123352;1756715;18632803;19797320;21081508;22692205;23584533;24715725;3136930;31611695;31719620;32350084;33792183;33912179;35051231;35251023;35303419;38253038;7252518;7559389;8333853;8591035;8611500;8631981;8920913;8985184;9010752;9199191;9822625;9826427", "class_list": "glycogene;glycosyltransferase", "function": "Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008]., [RefSeq]; Mucus sialylation determines intestinal host-commensal homeostasis., [RefSeq, PubMed]; Protein sialyltransferase specifically expressed in goblet cells that plays a key role in intestinal host-commensal homeostasis (PubMed:35303419). Conjugates sialic acid with an alpha-2-6 linkage to N-acetylgalactosamine (GalNAc) glycan chains linked to serine or threonine in glycoproteins (PubMed:10536037, PubMed:15466199, PubMed:16319059, PubMed:31719620, PubMed:35303419). Catalyzes the formation of the sialyl-Tn (S-Tn) antigen, an antigen found in intestinal goblet cells, as well as ulcerative colitis (UC) and various cancers (PubMed:15466199, PubMed:16319059, PubMed:31719620, PubMed:35303419). Protein sialylation in globlet cells is essential for mucus integrity and is required to protect the intestinal mucus against excessive bacterial proteolytic degradation (PubMed:35303419)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; ST6GalNAc-I promotes lung cancer metastasis by altering MUC5AC sialylation., [RefSeq, PubMed]; The stable transfection of MDA-MB-231 with an expression vector encoding ST6GalNAc I induces the expression of STn antigen at the cell surface., [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 5, "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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 743, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q6UW90;Q9NSC6", "ec_number_list": "2.4.3.7;2.4.99.-;2.4.3.3", "go_molecular_function": "GO:0008373 sialyltransferase activity;GO:0001665 alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:0009101 glycoprotein biosynthetic process;GO:0009312 oligosaccharide biosynthetic process;GO:0048874 host-mediated modulation of intestinal microbiota composition", "synthesized_glycan_count": 550, "hit_score": 7.8, "record_id": "Q9NSC7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P56962-1", "uniprot_id": "STX17_HUMAN", "mass": 33403.0, "length": 302, "protein_name": "Syntaxin-17", "gene_name": "STX17", "organism": "Human", "refseq_name": "syntaxin-17", "refseq_ac": "NP_060389", "gene_names_uniprotkb": "STX17", "gene_names_refseq": "STX17", "protein_names_uniprotkb": "Syntaxin-17", "protein_names_refseq": "syntaxin-17", "tax_id": 9606, "disease": "", "pathway": " (hsa:55014); (R-HSA-204005)", "pathway_count": 2, "publication_count": 104, "publication_id_list": "10445031;10559959;10679020;10747087;10788476;10825291;10903204;10982397;11035026;11237011;11285137;11306556;11927603;12070132;12235121;15037235;16303754;16495487;16624868;16912714;17005010;17038314;17192411;17287728;17316621;17562788;17684057;18843296;19164740;19209086;19413330;19608861;19638414;19656848;19664994;20545907;20596022;20679433;20966969;21478858;21532587;21545355;21689688;22013193;22157747;22675024;23006999;23186163;23217709;23378591;23479643;23698585;23864707;24119662;24917561;25202031;25406594;25492864;25586378;25619252;25686604;26416964;26811146;27846572;28306502;28467828;28504273;28657654;29420192;29557506;30655294;30704899;31844290;32265295;32350084;32387766;32897882;32938616;32980859;33141586;33392160;33422265;33592498;33691108;33936100;34357683;35051231;36215666;37632749;37821429;38182888;38340317;38720472;38831696;39008328;40307207;8221884;8620540;8663406;9094723;9150144;9177194;9307973;9647643", "class_list": "", "function": "Common variants in the STX17 gene region do not play a key role in the pathogenesis of human melanoma. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Exacerbation of atherosclerosis by STX17 knockdown: Unravelling the role of autophagy and inflammation., [RefSeq, PubMed]; Human YKT6 forms priming complex with STX17 and SNAP29 to facilitate autophagosome-lysosome fusion., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SLC34A2 promotes cell proliferation by activating STX17-mediated autophagy in esophageal squamous cell carcinoma., [RefSeq, PubMed]; SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion (PubMed:23217709, PubMed:25686604, PubMed:28306502). STX17 is a SNARE of the autophagosome involved in autophagy through the direct control of autophagosome membrane fusion with the lysosome membrane (PubMed:23217709, PubMed:25686604, PubMed:28306502, PubMed:28504273). May also play a role in the early secretory pathway where it may maintain the architecture of the endoplasmic reticulum-Golgi intermediate compartment/ERGIC and Golgi and/or regulate transport between the endoplasmic reticulum, the ERGIC and the Golgi (PubMed:21545355)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Syntaxin 17 recruitment to mature autophagosomes is temporally regulated by PI4P accumulation. Publication Status: Online-Only, [RefSeq, PubMed]; The STX17-SNAP47-VAMP7/VAMP8 complex is the default SNARE complex mediating autophagosome-lysosome fusion., [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": 3, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 3, "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": "Q4VXC2", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0000149 SNARE binding;GO:0019903 protein phosphatase binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030134 COPII-coated ER to Golgi transport vesicle", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0006886 intracellular protein transport;GO:0016236 macroautophagy;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0034497 protein localization to phagophore assembly site", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "P56962-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q12770-1", "uniprot_id": "SCAP_HUMAN", "mass": 139729.0, "length": 1279, "protein_name": "Sterol regulatory element-binding protein cleavage-activating protein", "gene_name": "SCAP", "organism": "Human", "refseq_name": "sterol regulatory element-binding protein cleavage-activating protein isoform 1", "refseq_ac": "NP_036367", "gene_names_uniprotkb": "SCAP; KIAA0199; PSEC0227", "gene_names_refseq": "SCAP", "protein_names_uniprotkb": "Sterol regulatory element-binding protein cleavage-activating protein; SCAP; SREBP cleavage-activating protein", "protein_names_refseq": "SREBP cleavage-activating protein; sterol regulatory element-binding protein cleavage-activating protein isoform 1; sterol regulatory element-binding protein cleavage-activating protein", "tax_id": 9606, "disease": "end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:22937); (R-HSA-1655829); (R-HSA-9918432)", "pathway_count": 3, "publication_count": 112, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10228156;10397761;10428864;10570913;10570919;10644685;10805775;11237011;11283257;14645851;15133039;15550381;16303743;17081983;17428920;17449569;18578522;18669648;19651622;19664994;19706601;20166139;23186163;23328677;23481700;24190977;24275569;24715725;25576301;25645385;25813380;25892735;26154972;26160948;26208004;26311497;26375851;26758079;26992070;27383988;27600516;27846572;28228593;28411811;28832583;28834231;28849786;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30429286;30524438;30779550;31844290;31875875;32111832;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33091337;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34185709;34192549;34357683;34487377;34509645;34725712;35051231;35215835;35251023;35561310;35580925;36010968;36241641;37074911;37437369;37938771;37979395;38256181;38665916;38793607;8156598;8674110;9488713;9634703;9659902", "class_list": "", "function": "Deficiency of SCAP inhibits HBV pathogenesis via activation of the interferon signaling pathway., [RefSeq, PubMed]; Escort protein required for cholesterol as well as lipid homeostasis (By similarity). Regulates export of the SCAP-SREBP complex from the endoplasmic reticulum to the Golgi upon low cholesterol, thereby regulating the processing of sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:26311497). At high sterol concentrations, formation of a ternary complex with INSIG (INSIG1 or INSIG2) leads to mask the ER export signal in SCAP, promoting retention of the complex in the endoplasmic reticulum (By similarity). Low sterol concentrations trigger release of INSIG, a conformational change in the SSD domain of SCAP, unmasking of the ER export signal, promoting recruitment into COPII-coated vesicles and transport of the SCAP-SREBP to the Golgi: in the Golgi, SREBPs are then processed, releasing the transcription factor fragment of SREBPs from the membrane, its import into the nucleus and up-regulation of LDLR, INSIG1 and the mevalonate pathway (PubMed:26311497). Binds cholesterol via its SSD domain (By similarity)., [UniProtKB, UniProtKB, PubMed]; PKM2-TMEM33 axis regulates lipid homeostasis in cancer cells by controlling SCAP stability., [RefSeq, PubMed]; SARS-CoV-2 nucleocapsid protein promotes TMAO-induced NLRP3 inflammasome activation by SCAP-SREBP signaling pathway., [RefSeq, PubMed]; Structural basis for sterol sensing by Scap and Insig., [RefSeq, PubMed]; The Role of SCAP/SREBP as Central Regulators of Lipid Metabolism in Hepatic Steatosis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein with a sterol sensing domain (SSD) and seven WD domains. In the presence of cholesterol, this protein binds to sterol regulatory element binding proteins (SREBPs) and mediates their transport from the ER to the Golgi. The SREBPs are then proteolytically cleaved and regulate sterol biosynthesis. 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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q8N2E0;Q8WUA1", "ec_number_list": "", "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0044877 protein-containing complex binding;GO:0032934 sterol binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0090110 COPII-coated vesicle cargo loading;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008203 cholesterol metabolic process;GO:0045540 regulation of cholesterol biosynthetic process;GO:0045542 positive regulation of cholesterol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "Q12770-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00193-1", "uniprot_id": "SMAP_HUMAN", "mass": 20333.0, "length": 183, "protein_name": "Small acidic protein", "gene_name": "C11orf58; SMAP", "organism": "Human", "refseq_name": "small acidic protein", "refseq_ac": "NP_055082", "gene_names_uniprotkb": "C11orf58; SMAP; C11orf58", "gene_names_refseq": "C11orf58; Hero20; IMAGE145052; SMAP", "protein_names_uniprotkb": "Small acidic protein", "protein_names_refseq": "small acidic protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:10944)", "pathway_count": 1, "publication_count": 66, "publication_id_list": "11237011;15592455;16094384;16964243;17081983;17693683;18220336;18318008;18452278;18669648;18691976;18707149;18767875;19367720;19413330;19415658;19531498;19562805;19608861;19651622;19664995;19690332;20058876;20068231;20166139;21406692;23186163;23301498;24715725;26375851;26992070;28218747;28510447;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29786170;29789417;30429286;30779550;30833945;31154438;31217245;31373491;31844290;31848261;32157095;32488085;32938616;32983136;33592498;33968037;34019948;35051231;35318648;35580925;36284347;37938771;40930100;9263035", "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": 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": 16, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RD28", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "O00193-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2V3-1", "uniprot_id": "RX_HUMAN", "mass": 36676.0, "length": 346, "protein_name": "Retinal homeobox protein Rx", "gene_name": "RAX", "organism": "Human", "refseq_name": "retinal homeobox protein Rx", "refseq_ac": "NP_038463", "gene_names_uniprotkb": "RAX; RX", "gene_names_refseq": "MCOP3; MCOPS16; RAX1; RAX; RX", "protein_names_uniprotkb": "Retinal homeobox protein Rx; Retina and anterior neural fold homeobox protein", "protein_names_refseq": "retina and anterior neural fold homeobox protein; retinal homeobox protein Rx", "tax_id": 9606, "disease": "syndromic microphthalmia 16 (Disease Ontology:DOID:0060842)", "pathway": " (hsa:30062)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10625658;11237011;14662654;21697133;22558175;22736936;24033328;26811146;28831107;29557506;34171305;34348662;35051231", "class_list": "", "function": "Combination of WES and homozygosity mapping identified a novel homozygous RAX mutation in a consanguineous family segregating with rarely reported asymmetrical coloboma. Clinical findings and genetic results support that RAX mutation is responsible for eye malformations. Publication Status: Online-Only, [RefSeq, PubMed]; Construction and characterization of EGFP reporter plasmid harboring putative human RAX promoter for in vitro monitoring of retinal progenitor cells identity. Publication Status: Online-Only, [RefSeq, PubMed]; Photosensitive photoreceptor cells can be generated by combinations of transcription factors. The combination of CRX and RX generate immature photoreceptors: and additional NEUROD promotes maturation., [RefSeq, PubMed]; Plays a critical role in eye formation by regulating the initial specification of retinal cells and/or their subsequent proliferation. Binds to the photoreceptor conserved element-I (PCE-1/Ret 1) in the photoreceptor cell-specific arrestin promoter., [UniProtKB]; The three consanguineous Egyptian anophthalmia patients carry a novel homozygous c.543+3A>G mutation (IVS2+3A>G) in RAX., [RefSeq, PubMed]; This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[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": 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": "Q86V11", "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: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:0007601 visual perception", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9Y2V3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZX9-1", "uniprot_id": "TWSG1_HUMAN", "mass": 25017.0, "length": 223, "protein_name": "Twisted gastrulation protein homolog 1", "gene_name": "TWSG1", "organism": "Human", "refseq_name": "twisted gastrulation protein homolog 1 precursor", "refseq_ac": "NP_065699", "gene_names_uniprotkb": "TWSG1; PSEC0250; TSG", "gene_names_refseq": "TSG; TWSG1", "protein_names_uniprotkb": "Twisted gastrulation protein homolog 1", "protein_names_refseq": "twisted gastrulation homolog 1; twisted gastrulation protein homolog 1 precursor; twisted gastrulation protein homolog 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57045)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11260715;11420619;16303743;23090970;23481700;24190977;24715725;25576301;26154972;26992070;27846572;27920218;28218747;28832583;29242379;29317506;29437277;29493099;29508533;29557506;29632711;29741879;29786170;30125619;30315122;30410026;30429286;31154438;31611695;31844290;31848261;31937595;32387766;32488085;32502341;32938616;33141586;33534374;33968037;34211107;34932366;35251023;35289036;35580925;36241641;36361543;37074911;37938771;38665916", "class_list": "", "function": "Internal cleavage and synergy with TWSG1 enhance BMP-4 inhibition by BMPER., [RefSeq, PubMed]; May be involved in dorsoventral axis formation. Seems to antagonize BMP signaling by forming ternary complexes with CHRD and BMPs, thereby preventing BMPs from binding to their receptors. In addition to the anti-BMP function, also has pro-BMP activity, partly mediated by cleavage and degradation of CHRD, which releases BMPs from ternary complexes. May be an important modulator of BMP-regulated cartilage development and chondrocyte differentiation. May play a role in thymocyte development (By similarity)., [UniProtKB]; Multifaceted Functions of TWSG1: From Embryogenesis to Cancer Development. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Twisted gastrulation signaling modulator 1 promotes the ability of glioma cell through activating 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": 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": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RE08;D3DUH9;Q8NBI7;Q96K46", "ec_number_list": "", "go_molecular_function": "GO:0008201 heparin binding;GO:0050431 transforming growth factor beta binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005576 extracellular region", "go_biological_process": "GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway;GO:0030510 regulation of BMP signaling pathway;GO:2000562 negative regulation of CD4-positive, alpha-beta T cell proliferation;GO:0060391 positive regulation of SMAD protein signal transduction;GO:0001818 negative regulation of cytokine production", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9GZX9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NMZ2-1", "uniprot_id": "SNTAN_HUMAN", "mass": 16468.0, "length": 147, "protein_name": "Sentan", "gene_name": "SNTN", "organism": "Human", "refseq_name": "sentan isoform 2", "refseq_ac": "NP_001074006", "gene_names_uniprotkb": "SNTN; S100A1L", "gene_names_refseq": "S100A1L; S100AL; SNTN; sentan", "protein_names_uniprotkb": "Sentan; Protein S100-A1-like; S100 calcium-binding protein A1-like", "protein_names_refseq": "S100A-like protein; sentan isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:132203)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;15289893;18829862;29557506", "class_list": "", "function": "Data suggest that sentan is the first molecular component of the ciliary tip to bridge the cell membrane and peripheral singlet microtubules, making the distal portion of the cilia narrow and stiff to allow for better airway clearance or ovum transport., [RefSeq, PubMed]; May be a component of the linker structure that bridges the ciliary membrane and peripheral singlet microtubules., [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": "B7FF65", "ec_number_list": "", "go_molecular_function": "GO:0046914 transition metal ion binding;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005929 cilium", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A6NMZ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H4B6-1", "uniprot_id": "SAV1_HUMAN", "mass": 44634.0, "length": 383, "protein_name": "Protein salvador homolog 1", "gene_name": "SAV1", "organism": "Human", "refseq_name": "protein salvador homolog 1", "refseq_ac": "NP_068590", "gene_names_uniprotkb": "SAV1; WW45", "gene_names_refseq": "SAV1; SAV; WW45; WWP4", "protein_names_uniprotkb": "Protein salvador homolog 1; 45 kDa WW domain protein; hWW45", "protein_names_refseq": "1700040G09Rik; 45 kDa WW domain protein; WW domain-containing adaptor 45; hWW45; protein salvador homolog 1; salvador homolog 1", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); kidney cancer (Disease Ontology:DOID:263); colonic disease (Disease Ontology:DOID:5353); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:60485); (R-HSA-2028269)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "11027580;11118213;11237011;11278283;12202036;12969014;15109305;15688006;16930133;17085597;17974916;18158288;18227151;18328708;18691976;19212654;19369195;20303269;20412773;20850437;20868367;21076410;21104395;21187284;21205866;21224387;21233212;21555462;21832154;21944251;23186163;23481700;24714562;25576301;25892735;26375851;26728094;26992070;28063628;28087714;28228285;28832583;28834231;29063833;29242379;29393594;29508533;29557506;29786170;30315122;31154438;31217245;31844290;31848261;32157095;32292165;32357974;32488085;32502341;32897882;32938616;32983136;33537174;33592498;33717175;34185709;35051231;35177623;35414790;35580925;35864957;36010968;36284347;37938771;8702870;9545236", "class_list": "", "function": "ALKBH5 Promotes Multiple Myeloma Tumorigenicity through inducing m(6)A-demethylation of SAV1 mRNA and Myeloma Stem Cell Phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; Cell adhesion molecule KIRREL1 is a feedback regulator of Hippo signaling recruiting SAV1 to cell-cell contact sites. Publication Status: Online-Only, [RefSeq, PubMed]; Regulator of STK3/MST2 and STK4/MST1 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis (PubMed:29063833). The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. SAV1 is required for STK3/MST2 and STK4/MST1 activation and promotes cell-cycle exit and terminal differentiation in developing epithelial tissues. Plays a role in centrosome disjunction by regulating the localization of NEK2 to centrosomes, and its ability to phosphorylate CROCC and CEP250. In conjunction with STK3/MST2, activates the transcriptional activity of ESR1 through the modulation of its phosphorylation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Salvador gene is not frequently mutated in human carcinoma tissues., [RefSeq, PubMed]; Smoke-induced SAV1 Gene Promoter Hypermethylation Disrupts YAP Negative Feedback and Promotes Malignant Progression of Non-small Cell Lung Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein with two WW domains, a SARAH domain, and a coiled-coil region and is ubiquitously expressed in adult tissues. This protein binds to MST1 (mammalian sterile 20-like kinase 1) and promotes MST1-induced apoptosis. It has also been shown to bind to HAX1 (hematopoietic cell-specific protein 1 (HS1)-associated protein X-1) and to attenuate the anti-apoptotic effects of HAX1. Studies in human and mouse suggest this gene acts as a tumor suppressor. [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": 10, "reported_mutagensis": 7, "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": "A8K4B8;D3DSB6;Q6IA58;Q9H949;Q9HAK9", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0042802 identical protein binding;GO:0043539 protein serine/threonine kinase activator activity;GO:0140537 transcription regulator activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process;GO:0035329 hippo signaling;GO:0050821 protein stabilization", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9H4B6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NNV3-1", "uniprot_id": "SPD16_HUMAN", "mass": 41873.0, "length": 352, "protein_name": "Speedy protein E16", "gene_name": "SPDYE16", "organism": "Human", "refseq_name": "speedy protein E16 isoform 1", "refseq_ac": "NP_001381872", "gene_names_uniprotkb": "SPDYE16", "gene_names_refseq": "SPDYE16", "protein_names_uniprotkb": "Speedy protein E16; Speedy/RINGO cell cycle regulator family member E16", "protein_names_refseq": "WBSCR19-like protein 5-like; putative speedy protein E16; speedy protein E16 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:102723555)", "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:0019901 protein kinase binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A6NNV3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q63ZE4-1", "uniprot_id": "S22AA_HUMAN", "mass": 60257.0, "length": 541, "protein_name": "Solute carrier family 22 member 10", "gene_name": "SLC22A10", "organism": "Human", "refseq_name": "solute carrier family 22 member 10", "refseq_ac": "NP_001034841", "gene_names_uniprotkb": "SLC22A10; OAT5", "gene_names_refseq": "OAT5; SLC22A10; hOAT5", "protein_names_uniprotkb": "Solute carrier family 22 member 10; Organic anion transporter 5", "protein_names_refseq": "organic anion transporter 5; solute carrier family 22 (organic anion/cation transporter), member 10; solute carrier family 22 member 10; solute carrier family 22, member 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:387775)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;11327718;12372408;15221005;24715725;29557506;35051231;35580925;38782905", "class_list": "", "function": "Illuminating the function of the orphan transporter, SLC22A10, in humans and other primates. 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "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": "Q68CJ0", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0015711 organic anion transport", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q63ZE4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WXA3-2", "uniprot_id": "RUFY2_HUMAN", "mass": 70010.0, "length": 606, "protein_name": "RUN and FYVE domain-containing protein 2", "gene_name": "RUFY2", "organism": "Human", "refseq_name": "RUN and FYVE domain-containing protein 2 isoform b", "refseq_ac": "NP_001035882", "gene_names_uniprotkb": "RUFY2; KIAA1537; RABIP4R", "gene_names_refseq": "RABIP4R; RUFY2; ZFYVE13", "protein_names_uniprotkb": "RUN and FYVE domain-containing protein 2; Rab4-interacting protein related", "protein_names_refseq": "RUN and FYVE domain-containing protein 2 isoform b; RUN and FYVE domain-containing protein 2; Run- and FYVE-domain containing protein; antigen MU-RMS-40.17; rab4-interacting protein related", "tax_id": 9606, "disease": "", "pathway": " (hsa:55680)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11877430;16385451;26992070;28904123;29493099;29557506;31154438;32157095;32357974;32387766;32897882;32938616;33141586;33298915;33392160;33592498;33968037;34087483;34405274;34509645;35051231;36010968;37938771", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B3KXB2;B4DFR0;Q5TC48;Q8IW33;Q96P51;Q9P1Z1", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0017124 SH3 domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005768 endosome", "go_biological_process": "GO:0030100 regulation of endocytosis", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8WXA3-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q11206-1", "uniprot_id": "SIA4C_HUMAN", "mass": 38045.0, "length": 333, "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4", "gene_name": "ST3GAL4", "organism": "Human", "refseq_name": "CMP-N-acetylneuraminate-beta-galactosamide- alpha-2,3-sialyltransferase 4 isoform 2", "refseq_ac": "NP_001241687", "gene_names_uniprotkb": "ST3GAL4; CGS23; NANTA3; SIAT4C; STZ", "gene_names_refseq": "CGS23; NANTA3; SAT3; SIAT4C; SIAT4; ST-4; ST3GAL4; ST3GalA.2; ST3GalIV; STZ; gal-NAc6S", "protein_names_uniprotkb": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4; 2.4.3.2; 2.4.3.4; 2.4.3.6; Alpha 2,3-ST 4; Alpha 2,3-sialyltransferase IV; Beta-galactoside alpha-2,3-sialyltransferase 4; Gal-NAc6S; Gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferase; Gal-beta-1,4-GlcNAc-alpha-2,3-sialyltransferase; N-acetyllactosaminide alpha-2,3-sialyltransferase; SAT-3; SIAT4-C; ST-4; ST3Gal IV; ST3GalA.2; ST3GalIV; STZ; Sialyltransferase 4C", "protein_names_refseq": "CMP-N-acetylneuraminate-beta-galactosamide- alpha-2,3-sialyltransferase 4 isoform 2; CMP-N-acetylneuraminate-beta-galactosamide-alpha-2, 3-sialyltransferase 4; N-acetyllactosaminide alpha-2,3-sialyltransferase; alpha 2,3-ST 4; alpha 2,3-sialyltransferase IV; alpha-3-N-acetylneuraminyltransferase; beta-galactoside alpha-2,3-sialyltransferase 4; gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferase; gal-beta-1,4-GalNAc-alpha-2,3-sialyltransferase; gal-beta-1,4-GlcNAc-alpha-2,3-sialyltransferase; sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase); sialyltransferase 4C (beta-galactoside alpha-2,3-sialytransferase)", "tax_id": 9606, "disease": "", "pathway": " (hsa:6484); (R-HSA-1912420); (R-HSA-2022854); (R-HSA-4085001); (R-HSA-9037629); (R-HSA-9683673); (R-HSA-9694548); (R-HSA-9694719); (R-HSA-975577); (R-HSA-977068)", "pathway_count": 10, "publication_count": 176, "publication_id_list": "10.1101/2023.09.13.557529;10075724;10191093;10206952;10212226;10330343;10334995;10366590;10395745;10405317;10431835;10459009;10491328;10504389;10536037;10545110;10570912;10581036;10669757;10700233;10742600;10749855;10766765;10861246;10935626;10935637;10947946;11030741;11042166;11042394;11062056;11135303;11237011;11279095;11283017;11421344;11425186;11528398;11530204;11588157;11602804;11707585;11751519;11821425;11901181;11916006;12049766;12097641;12107078;12177386;12218059;12222957;12235148;12441665;12473780;12603328;12668675;12678917;12743242;12765789;1295745;14688233;14962670;15136692;15158662;1520296;15213228;15466199;15486459;15501818;15560372;15576474;15620693;15939404;16147865;16237198;16319059;16434023;16474139;16924681;17006639;1702034;17021253;17123352;1714903;1716630;1740457;17488527;1756715;1764995;18632803;18931531;19403558;19701457;1977660;19797320;20117844;20170518;20197277;21081508;21097675;22692205;22915798;23090970;2373995;24190977;24953560;25498912;26992070;28904123;29557506;30429286;30779550;3136930;31844290;32157095;32161166;32363391;32366695;32488085;32518941;32676595;32897882;33080315;33310888;33392160;33524390;33936100;33968037;34117209;34357683;34428449;34528721;34599882;34961524;35289036;36083411;36215666;37074623;37632720;38034954;39422756;40596516;7252518;7559389;7876235;7901202;7918097;7986008;8207002;8240337;8288606;8293978;8333853;8557707;8591035;8611500;8631981;8681805;8920913;8985184;9010752;9054414;9187150;9199191;9207795;9219535;9244302;9405439;9417100;9582303;9597550;9653148;9727485;9822625;9826427", "class_list": "glycogene;glycosyltransferase", "function": "A beta-galactoside alpha2-3 sialyltransferase involved in terminal sialylation of glycoproteins and glycolipids (PubMed:8288606, PubMed:8611500, PubMed:37632720). Catalyzes the transfer of sialic acid (N-acetyl-neuraminic acid; Neu5Ac) from the nucleotide sugar donor CMP-Neu5Ac onto acceptor Galbeta-(1->3)-GalNAc- and Galbeta-(1->4)-GlcNAc-terminated glycoconjugates through an alpha2-3 linkage (PubMed:8288606, PubMed:8611500). Plays a major role in hemostasis. Responsible for sialylation of plasma VWF/von Willebrand factor, preventing its recognition by asialoglycoprotein receptors (ASGPR) and subsequent clearance. Regulates ASGPR-mediated clearance of platelets (By similarity). Participates in the biosynthesis of the sialyl Lewis X epitopes, both on O- and N-glycans, which are recognized by SELE/E-selectin, SELP/P-selectin and SELL/L-selectin. Essential for selectin-mediated rolling and adhesion of leukocytes during extravasation (PubMed:25498912). Contributes to adhesion and transendothelial migration of neutrophils likely through terminal sialylation of CXCR2 (By similarity). In glycosphingolipid biosynthesis, sialylates GM1 and GA1 gangliosides to form GD1a and GM1b, respectively (PubMed:8288606). Metabolizes brain c-series ganglioside GT1c forming GQ1c (By similarity). Synthesizes ganglioside LM1 (IV3Neu5Ac-nLc4Cer), a major structural component of peripheral nerve myelin (PubMed:8611500)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; MiR-193b modulates osteoarthritis progression through targeting ST3GAL4 via sialylation of CD44 and NF-small ka, CyrillicB pathway., [RefSeq, PubMed]; Rab11-mediated post-Golgi transport of the sialyltransferase ST3GAL4 suggests a new mechanism for regulating glycosylation., [RefSeq, PubMed]; Role of a Disease-associated ST3Gal-4 in Non-small Cell Lung Cancer., [RefSeq, PubMed]; ST3GAL4 promotes tumorigenesis in breast cancer by enhancing aerobic glycolysis. Publication Status: Online-Only, [RefSeq, PubMed]; ST3GalIV drives SLeX biosynthesis in gastrointestinal cancer cells and associates with cancer cell motility., [RefSeq, PubMed]; This gene encodes a member of the glycosyltransferase 29 family, a group of enzymes involved in protein glycosylation. The encoded protein is targeted to Golgi membranes but may be proteolytically processed and secreted. The gene product may also be involved in the increased expression of sialyl Lewis X antigen seen in inflammatory responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 331, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K6B2;O60497;Q8N6A6;Q8NFG7;Q96QQ9", "ec_number_list": "2.4.3.1;2.4.3.2;2.4.3.4;2.4.3.6;2.4.3.7;2.4.3.3;2.4.3.9", "go_molecular_function": "GO:0008373 sialyltransferase activity;GO:0047288 beta-D-galactosyl-(1->3)-N-acetyl-beta-D-galactosaminide alpha-2,3- sialyltransferase;GO:0003836 beta-galactoside (CMP) alpha-2,3-sialyltransferase activity;GO:0008118 N-acetyllactosaminide alpha-2,3-sialyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0016020 membrane;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:1903238 positive regulation of leukocyte tethering or rolling;GO:0019082 viral protein processing;GO:0050890 cognition;GO:0009101 glycoprotein biosynthetic process;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine", "synthesized_glycan_count": 2417, "hit_score": 18.5, "record_id": "Q11206-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95470-1", "uniprot_id": "SGPL1_HUMAN", "mass": 63524.0, "length": 568, "protein_name": "Sphingosine-1-phosphate lyase 1", "gene_name": "SGPL1", "organism": "Human", "refseq_name": "sphingosine-1-phosphate lyase 1 isoform 1", "refseq_ac": "NP_003892", "gene_names_uniprotkb": "SGPL1; KIAA1252", "gene_names_refseq": "NPHS14; RENI; S1PL; SGPL1; SPL", "protein_names_uniprotkb": "Sphingosine-1-phosphate lyase 1; 4.1.2.27; S1PL; SP-lyase 1; SPL 1; Sphingosine-1-phosphate aldolase; hSPL", "protein_names_refseq": "SP-lyase 1; SPL 1; hSPL; sphingosine-1-phosphate aldolase; sphingosine-1-phosphate lyase 1 isoform 1", "tax_id": 9606, "disease": "RENI syndrome (Disease Ontology:DOID:0080265); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); nephrotic syndrome (Disease Ontology:DOID:1184); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:8879); (R-HSA-9845614)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "10.1101/2023.09.13.557529;11018465;11237011;11356846;12411432;12815058;14570870;16777052;16782891;16940153;17379599;17382292;17713573;18558101;18619555;18691976;19608861;19690332;20068046;20068231;20089856;20699116;22784711;23232022;23721920;24777844;24809814;25286108;27126290;27600516;27846572;27920218;28077491;28165339;28165343;28181337;28218747;28832583;28904123;29229990;29242379;29331515;29393594;29437277;29557506;29632711;29786170;30090628;30410026;30517686;30575723;30635364;30779550;31154438;31217245;31611695;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32938616;32983136;33141586;33298915;33592498;33912179;33968037;33981976;34073605;34085165;34171305;34185709;34229054;34357683;34405274;34509645;34725712;35051231;35318648;35561310;35580925;35748945;36050428;36215666;36241641;36834691;37217939;37938771;9705349", "class_list": "glycogene", "function": "A rare cause of nephrotic syndrome-sphingosine-1-phosphate lyase (SGPL1) deficiency: 6 cases and a review of the literature. Review article, [RefSeq, PubMed]; Cleaves phosphorylated sphingoid bases (PSBs), such as sphingosine-1-phosphate, into fatty aldehydes and phosphoethanolamine. Elevates stress-induced ceramide production and apoptosis (PubMed:11018465, PubMed:14570870, PubMed:24809814, PubMed:28165339). Required for global lipid homeostasis in liver and cholesterol homeostasis in fibroblasts. Involved in the regulation of pro-inflammatory response and neutrophil trafficking. Modulates neuronal autophagy via phosphoethanolamine production which regulates accumulation of aggregate-prone proteins such as APP (By similarity). Seems to play a role in establishing neuronal contact sites and axonal maintenance (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Loss of S1P Lyase Expression in Human Podocytes Causes a Reduction in Nephrin Expression That Involves PKCdelta Activation. Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear Sphingosine-1-phosphate Lyase Generated 2-hexadecenal is A Regulator of HDAC Activity and Chromatin Remodeling in Lung Epithelial Cells., [RefSeq, PubMed]; S1P Lyase Regulates Intestinal Stem Cell Quiescence via Ki-67 and FOXO3. Publication Status: Online-Only, [RefSeq, PubMed]; SGPL1 Deficiency: Nephrotic Syndrome with Lymphopenia., [RefSeq, PubMed]; Sphingosine-1-phosphate lyase is a dual modulator of sphingosine 1-phosphate and ceramide metabolism as well as a regulator of cell fate decisions, [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": 4, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 605, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RBD4;Q7Z732;Q9ULG8;Q9UN89", "ec_number_list": "4.1.2.27", "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0008117 sphinganine-1-phosphate aldolase activity;GO:0016829 lyase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0030149 sphingolipid catabolic process;GO:0006631 fatty acid metabolic process;GO:0097190 apoptotic signaling pathway;GO:0006672 ceramide metabolic process;GO:0006665 sphingolipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "O95470-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H4L7-1", "uniprot_id": "SMRCD_HUMAN", "mass": 117402.0, "length": 1026, "protein_name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1", "gene_name": "SMARCAD1", "organism": "Human", "refseq_name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform a", "refseq_ac": "NP_001121901", "gene_names_uniprotkb": "SMARCAD1; KIAA1122", "gene_names_refseq": "ADERM; BASNS; ETL1; HEL1; HPGDS-AS1; HRZ; SMARCAD1; TYS", "protein_names_uniprotkb": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1; 3.6.4.-; SMARCAD1", "protein_names_refseq": "ATP-dependent helicase 1; HPGDS antisense RNA 1; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform a; SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1; sclerotylosis", "tax_id": 9606, "disease": "asphyxiating thoracic dystrophy (Disease Ontology:DOID:0050592); BASAN syndrome (Disease Ontology:DOID:0080725); adermatoglyphia (Disease Ontology:DOID:0111357); palmoplantar keratoderma-sclerodactyly syndrome (MONDO:MONDO:0008416)", "pathway": " (hsa:56916)", "pathway_count": 1, "publication_count": 107, "publication_id_list": "11031099;11237011;15302935;17081983;17322306;17525332;18212344;18452278;18669648;18675275;19413330;19651622;19664994;19690332;20068231;21406692;21549307;21820097;22223895;22960744;23186163;23301498;23481700;24275569;24366607;24664640;24714562;24909267;25218447;25418920;25576301;25645385;25880248;26154972;26375851;26811146;26929215;26932190;26992070;27543614;27600516;27846572;27862975;27920218;28063255;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29409814;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32522876;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34509645;34932366;35051231;35318648;35580925;36010968;36241641;37140056;37761933;37938771;37966719;39424143", "class_list": "", "function": "Basan syndrome in a family from South India: a novel SMARCAD1 variant., [RefSeq, PubMed]; Findings suggest that chromatin remodeling by SMARCAD1 ensures that silenced loci, such as pericentric heterochromatin, are correctly perpetuated., [RefSeq, PubMed]; MSH2-MSH3 promotes DNA end resection during homologous recombination and blocks polymerase theta-mediated end-joining through interaction with SMARCAD1 and EXO1., [RefSeq, PubMed]; Protein that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization (PubMed:22960744, PubMed:21820097). Combines the ATP-dependent ability to exchange histones, with the chaperone-like ATP-independent activity to deposit histones and assemble nucleosomes (PubMed:21820097). Promotes DNA end resection of double-strand breaks (DSBs) following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs (PubMed:22960744). Required for the restoration of heterochromatin organization after replication (PubMed:21549307). Acts at replication sites to facilitate the maintenance of heterochromatin by directing H3 and H4 histones deacetylation, H3 'Lys-9' trimethylation (H3K9me3) and restoration of silencing (PubMed:21549307)., [UniProtKB, PubMed, PubMed, PubMed]; Results suggest a novel model for gene regulation via the SMARCAD1/KIAA1122 protein complex., [RefSeq, PubMed]; The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse. Publication Status: Online-Only, [RefSeq, PubMed]; The existence of a short isoform of SMARCAD1 exclusively expressed in the skin, is demonstrated., [RefSeq, PubMed]; This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. 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": 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": 37, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "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": "B7Z799;Q05D56;Q96SX1;Q9H017;Q9H860;Q9NPU9;Q9ULU7", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;7.6.2.1;2.3.2.27;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0043596 nuclear replication fork;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0035861 site of double-strand break", "go_biological_process": "GO:0000018 regulation of DNA recombination;GO:0006338 chromatin remodeling;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051304 chromosome separation;GO:0000729 DNA double-strand break processing", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q9H4L7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6GMV2-1", "uniprot_id": "SMYD5_HUMAN", "mass": 47341.0, "length": 418, "protein_name": "Protein-lysine N-trimethyltransferase SMYD5", "gene_name": "SMYD5", "organism": "Human", "refseq_name": "protein-lysine N-trimethyltransferase SMYD5", "refseq_ac": "NP_006053", "gene_names_uniprotkb": "SMYD5; RAI15", "gene_names_refseq": "NN8-4AG; RAI15; RRG1; SMYD5; ZMYND23", "protein_names_uniprotkb": "Protein-lysine N-trimethyltransferase SMYD5; 2.1.1.-; 2.1.1.359; 2.1.1.372; Protein NN8-4AG; Retinoic acid-induced protein 15; SET and MYND domain-containing protein 5; [histone H3]-lysine20 N-trimethyltransferase SMYD5; [histone H4]-lysine36 N-trimethyltransferase SMYD5", "protein_names_refseq": "SET and MYND domain-containing protein 5; [histone H3]-lysine20 N-trimethyltransferase SMYD5; [histone H4]-lysine20 N-trimethyltransferase SMYD5; [histone H4]-lysine36 N-trimethyltransferase SMYD5; histone-lysine N-trimethyltransferase SMYD5; protein-lysine N-trimethyltransferase SMYD5; retinoic acid induced 15; retinoic acid responsive; retinoic acid-induced protein 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:10322)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;23301498;23481700;25418920;28510447;28904123;28951459;29242379;29632046;30315122;30429286;31844290;32265295;32897882;33676231;33912179;33968037;36897778;38723947;39048817;39103523;40914422;8754834", "class_list": "", "function": "Depletion of SMYD5 in human colon and lung cancer cells results in increased tumor growth and upregulation of genes overexpressed in colon and lung cancers, respectively. The findings implicate an important role for SMYD5 in maintaining chromosome integrity by regulating heterochromatin and repressing endogenous repetitive DNA elements during differentiation., [RefSeq, PubMed]; Negative regulation of SH2B3 by SMYD5 controls epithelial-mesenchymal transition in lung cancer., [RefSeq, PubMed]; Protein-lysine N-trimethyltransferase that specifically catalyzes trimethylation of 'Lys-22' of the RPL40/eL40 subunit of the 60S ribosome, thereby promoting translation elongation and protein synthesis (PubMed:39048817, PubMed:39103523). May also act as a histone methyltransferase in the context of histone octamers, but not on nucleosome substrates: trimethylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 to form H3K36me3 and H4K20me3, respectively (By similarity). The histone methyltransferase activity, which is independent of its SET domain, is however unsure in vivo (PubMed:39048817, PubMed:39103523). In association with the NCoR corepressor complex, involved in the repression of toll-like receptor 4 (TLR4)-target inflammatory genes in macrophages, possibly by catalyzing the formation of H4K20me3 at the gene promoters (By similarity). Plays an important role in embryonic stem (ES) cell self-renewal and differentiation (By similarity). Maintains genome stability of ES cells during differentiation through regulation of heterochromatin formation and repression of endogenous repetitive DNA elements by promoting H4K20me3 marks (PubMed:28951459). Acts as a regulator of the hypothermia response: its degradation in response to mild hypothermia relieves the formation of H3K36me3 at gene promoters, allowing expression of the neuroprotective gene SP1 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; SMYD5 is a ribosomal methyltransferase that catalyzes RPL40 lysine methylation to enhance translation output and promote hepatocellular carcinoma., [RefSeq, PubMed]; SMYD5 methylation of rpL40 links ribosomal output to gastric cancer., [RefSeq, PubMed]; Sperm chromatin-condensing protamine enhances SMYD5 thermal stability., [RefSeq, PubMed]; The lysine methyltransferase SMYD5 amplifies HIV-1 transcription and is post-transcriptionally upregulated by Tat and USP11., [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": 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": "D6W5H3;Q13558", "ec_number_list": "2.1.1.-;2.1.1.359;2.1.1.372;2.1.1.367;2.1.1.355;2.1.1.354;2.1.1.362;2.1.1.361", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0016279 protein-lysine N-methyltransferase activity;GO:0042799 histone H4K20 methyltransferase activity;GO:0140955 histone H3K36 trimethyltransferase activity;GO:0140943 histone H4K20 trimethyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0045814 negative regulation of gene expression, epigenetic;GO:0032259 methylation;GO:2000035 regulation of stem cell division;GO:2000736 regulation of stem cell differentiation;GO:0141005 transposable element silencing by heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q6GMV2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P57768-1", "uniprot_id": "SNX16_HUMAN", "mass": 39167.0, "length": 344, "protein_name": "Sorting nexin-16", "gene_name": "SNX16", "organism": "Human", "refseq_name": "sorting nexin-16 isoform a", "refseq_ac": "NP_071416", "gene_names_uniprotkb": "SNX16", "gene_names_refseq": "SNX16", "protein_names_uniprotkb": "Sorting nexin-16", "protein_names_refseq": "sorting nexin-16 isoform a", "tax_id": 9606, "disease": "polycythemia due to hypoxia (Disease Ontology:DOID:2835)", "pathway": " (hsa:64089)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;12813048;15951806;18669648;19413330;19754948;28712807;30379171;30429286;31876369;32502341;32579212;32938616;33592498;33968037;35051231;36373636;37217939;38849490", "class_list": "", "function": "BHLHE40 plays a pathological role in pre-eclampsia through upregulating SNX16 by transcriptional inhibition of miR-196a-5p., [RefSeq, PubMed]; May be involved in several stages of intracellular trafficking. Plays a role in protein transport from early to late endosomes. Plays a role in protein transport to the lysosome. Promotes degradation of EGFR after EGF signaling. Plays a role in intracellular transport of vesicular stomatitis virus nucleocapsids from the endosome to the cytoplasm., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; SNX16 activates c-Myc signaling by inhibiting ubiquitin-mediated proteasomal degradation of eEF1A2 in colorectal cancer development., [RefSeq, PubMed]; SNX16 is a sorting nexin that may function in the trafficking of proteins between the early and late endosomal compartments, [RefSeq, PubMed]; SNX16 is required for hepatocellular carcinoma survival via modulating the EGFR-AKT signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; SNX16 regulates the recycling trafficking of E-cadherin . SNX16 associates with the cytoplasmic domain of E-cadherin via PPII/alpha2 loop., [RefSeq, PubMed]; This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The protein encoded by this gene associates with late endosome membranes as is involved in tubule formation, cholesterol transport, and transport of tetraspanin CD81. The encoded protein also inhibits cell migration and tumorigenesis. [provided by RefSeq, Jan 2017]., [RefSeq]; [Sorting Nexin 16:Structure,Function,and Role in Diseases]. 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": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 6, "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": "A8K4D8;Q658L0;Q8N4U3", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005764 lysosome;GO:0031902 late endosome membrane;GO:0031901 early endosome membrane;GO:0005770 late endosome", "go_biological_process": "GO:0008333 endosome to lysosome transport;GO:0045022 early endosome to late endosome transport;GO:0006622 protein targeting to lysosome;GO:0001881 receptor recycling;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "P57768-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3B7S5-1", "uniprot_id": "SMI21_HUMAN", "mass": 11722.0, "length": 101, "protein_name": "Small integral membrane protein 21", "gene_name": "SMIM21", "organism": "Human", "refseq_name": "small integral membrane protein 21 isoform 1", "refseq_ac": "NP_001032408", "gene_names_uniprotkb": "SMIM21; C18orf62", "gene_names_refseq": "C18orf62; SMIM21", "protein_names_uniprotkb": "Small integral membrane protein 21", "protein_names_refseq": "small integral membrane protein 21 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:284274)", "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": 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": "Q3B7S5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IX90-1", "uniprot_id": "SKA3_HUMAN", "mass": 46359.0, "length": 412, "protein_name": "Spindle and kinetochore-associated protein 3", "gene_name": "SKA3", "organism": "Human", "refseq_name": "spindle and kinetochore-associated protein 3 isoform 2", "refseq_ac": "NP_001159489", "gene_names_uniprotkb": "SKA3; C13orf3; RAMA1", "gene_names_refseq": "C13orf3; RAMA1; SKA3", "protein_names_uniprotkb": "Spindle and kinetochore-associated protein 3", "protein_names_refseq": "spindle and kinetochore-associated protein 3 isoform 2; spindle and kinetochore-associated protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:221150)", "pathway_count": 1, "publication_count": 73, "publication_id_list": "11237011;15144186;15592455;16565220;18452278;18669648;19007248;19289083;19360002;19387489;19549680;19651622;19664994;19664995;19690332;19691289;20058876;20068231;20230923;20813266;21406692;22371557;23085020;23186163;23301498;25576301;25880248;26992070;27846572;27893789;27920218;28228285;28832583;28904123;29242379;29485866;29493099;30315122;30779550;31222486;31530632;31844290;31937595;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33106477;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34509645;34932366;35051231;35580925;35705054;36010968;36241641;36284347;36728910;37821935;37973787;38228236", "class_list": "", "function": "C13Orf3 (now termed Ska3) localizes to the spindle and kinetochore throughout mitosis and its depletion markedly delays anaphase transition., [RefSeq, PubMed]; Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation (PubMed:19289083, PubMed:19360002, PubMed:23085020). The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies (PubMed:19289083, PubMed:19360002). The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner (PubMed:19289083). In the complex, it mediates the microtubule-stimulated oligomerization (PubMed:19289083). Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules (PubMed:23085020)., [UniProtKB, PubMed, PubMed, PubMed]; Hypoxia-induced SKA3 promoted cholangiocarcinoma progression and chemoresistance by enhancing fatty acid synthesis via the regulation of PAR-dependent HIF-1a deubiquitylation. Publication Status: Online-Only, [RefSeq, PubMed]; RAMA1 is a novel kinetochore protein involved in kinetochore-microtubule attachment., [RefSeq, PubMed]; Specific intracellular retention of circSKA3 promotes colorectal cancer metastasis by attenuating ubiquitination and degradation of SLUG. Publication Status: Online-Only, [RefSeq, PubMed]; Spindle and kinetochore-related complex subunit 3 has a protumour function in osteosarcoma by activating the Notch pathway., [RefSeq, PubMed]; These data identify C13orf3 (Ska3) as an important factor for metaphase to anaphase progression and highlight the potential of combined RNAi screening and protein localisation analyses., [RefSeq, PubMed]; This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]., [RefSeq]; Transcription factor ZEB1 regulates PLK1-mediated SKA3 phosphorylation to promote lung cancer cell proliferation, migration and cell cycle., [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": 31, "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": "A2A330;A2A331;B2RBY2;Q5VZV5;Q86WR2;Q8NBG1;Q96D22", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005813 centrosome;GO:0000776 kinetochore;GO:0005876 spindle microtubule;GO:0072687 meiotic spindle;GO:0072686 mitotic spindle", "go_biological_process": "GO:0031110 regulation of microtubule polymerization or depolymerization;GO:0051310 metaphase chromosome alignment;GO:0051315 attachment of mitotic spindle microtubules to kinetochore;GO:0000278 mitotic cell cycle;GO:0007059 chromosome segregation", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q8IX90-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IUW3-1", "uniprot_id": "SPA2L_HUMAN", "mass": 46179.0, "length": 424, "protein_name": "Spermatogenesis-associated protein 2-like protein", "gene_name": "SPATA2L", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 2-like protein", "refseq_ac": "NP_689552", "gene_names_uniprotkb": "SPATA2L; C16orf76", "gene_names_refseq": "C16orf76; SPATA2L; tamo", "protein_names_uniprotkb": "Spermatogenesis-associated protein 2-like protein; SPATA2-like protein", "protein_names_refseq": "SPATA2-like protein; spermatogenesis-associated protein 2-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:124044)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;18452278;27543614;27846572;28832583;28904123;29242379;29632046;29786170;30833945;31222486;32157095;32350084;32387766;32502341;32897882;32938616;32983136;33141586;33592498;33717175;34087483;34171305;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": 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": "D3DX85;Q8NHV3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8IUW3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IYR2-1", "uniprot_id": "SMYD4_HUMAN", "mass": 89225.0, "length": 804, "protein_name": "Protein-lysine N-methyltransferase SMYD4", "gene_name": "SMYD4", "organism": "Human", "refseq_name": "protein-lysine N-methyltransferase SMYD4", "refseq_ac": "NP_443160", "gene_names_uniprotkb": "SMYD4; KIAA1936", "gene_names_refseq": "SMYD4; ZMYND21", "protein_names_uniprotkb": "Protein-lysine N-methyltransferase SMYD4; 2.1.1.-; SET and MYND domain-containing protein 4", "protein_names_refseq": "SET and MYND domain-containing protein 4; protein-lysine N-methyltransferase SMYD4", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:114826)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;19383909;21248752;22544926;23481700;25576301;26992070;27600516;28218747;28832583;29242379;29493099;29557506;30110327;30315122;30524438;31092671;31154438;31324691;31844290;31848261;31937595;32157095;32161166;32387766;32488085;32502341;32938616;33141586;33537174;33592498;33968037;33981976;35051231;35580925;36010968;37217939;38438251", "class_list": "", "function": "Protein-lysine N-methyltransferase. Monomethylates PRMT5, modulating its transcriptional activity (PubMed:38438251). May also act as a histone methyltransferase (By similarity). Plays a critical role in cardiac development. Acts as a key epigenetic regulator of gene expression during cardiac development via its dual activities as a methyltransferase and negative regulator of HDAC1 (By similarity)., [UniProtKB, UniProtKB, PubMed]; Protein-lysine N-methyltransferase. Monomethylates PRMT5, modulating its transcriptional activity. May also act as a histone methyltransferase. Plays a critical role in cardiac development. Acts as a key epigenetic regulator of gene expression during cardiac development via its dual activities as a methyltransferase and negative regulator of HDAC1., [UniProtKB, UniProtKB]; SMYD4 monomethylates PRMT5 and forms a positive feedback loop to promote hepatocellular carcinoma progression., [RefSeq, PubMed]; Smyd4, as a potential tumor suppressor, plays a critical role in breast carcinogenesis at least partly through inhibiting the expression of Pdgfr-alpha., [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": 0, "reported_glycation": 0, "reported_snv": 13, "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": "Q8N1P2;Q8NAT0;Q96LV4;Q96PV2", "ec_number_list": "2.1.1.-;2.1.1.364;2.1.1.359;2.1.1.361;2.1.1.355;2.1.1.354;2.1.1.362", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042826 histone deacetylase binding;GO:0016279 protein-lysine N-methyltransferase activity;GO:0008168 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0007507 heart development;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q8IYR2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NDV1-1", "uniprot_id": "SIA7C_HUMAN", "mass": 35395.0, "length": 305, "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3", "gene_name": "ST6GALNAC3", "organism": "Human", "refseq_name": "alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 2", "refseq_ac": "NP_001153483", "gene_names_uniprotkb": "ST6GALNAC3; PRO7177; SIAT7C", "gene_names_refseq": "PRO7177; SIAT7C; ST6GALNAC3; ST6GALNACIII; STY", "protein_names_uniprotkb": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3; 2.4.3.7; GalNAc alpha-2,6-sialyltransferase III; SIAT7-C; ST6GalNAc III; ST6GalNAcIII; STY; Sialyltransferase 7C", "protein_names_refseq": "GalNAc alpha-2,6-sialyltransferase III; ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3; ST6 GalNAc alpha-2,6-sialyltransferase 3; alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 2; alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3; alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase III; sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1, 3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C; sialyltransferase 7C", "tax_id": 9606, "disease": "", "pathway": " (hsa:256435); (R-HSA-4085001); (R-HSA-9683673); (R-HSA-9694548); (R-HSA-9694719); (R-HSA-977068)", "pathway_count": 6, "publication_count": 87, "publication_id_list": "10.1074/mcp.M114.046862;10191093;10206952;10330343;10334995;10405317;10431835;10504389;10536037;10581036;10742600;10749855;10861246;10947946;11062056;11279095;11528398;11602804;11751519;11916006;12177386;12235148;12473780;12603328;12668675;12743242;12975309;14962670;15136692;15213228;15466199;15501818;15576474;16147865;16169874;16237198;16319059;16474139;17123352;1756715;18632803;19797320;20421487;21081508;22692205;22915798;2373995;24740207;25813380;27397612;27920218;28832583;28834231;29242379;29314611;29465788;29557506;30451992;3136930;31844290;32157095;32363391;32366695;32518941;32676595;33310888;34117209;34357683;34428449;34461439;34528721;34599882;34961524;35580925;7252518;7559389;7986008;8333853;8591035;8611500;8631981;8920913;8985184;9010752;9199191;9822625;9826427", "class_list": "glycogene;glycosyltransferase", "function": "Biomarker potential of ST6GALNAC3 and ZNF660 promoter hypermethylation in prostate cancer tissue and liquid biopsies., [RefSeq, PubMed]; Depletion of ST6GALNACIII retards A549 non-small cell lung cancer cell proliferation by downregulating transferrin receptor protein 1 expression., [RefSeq, PubMed]; Genome-wide association study in population in Finland: Data suggest that one SNP in ST6GALNAC3 (rs12144344) and two SNPs in VDBP (vitamin D binding protein; rs7041, rs705117) are associated with serum levels of VDBP in the male population studied., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results describe the molecular cloning and expression of human ST6GalNAc III, including its tissue distribution and substrate specificity., [RefSeq, PubMed]; ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to terminal positions of carbohydrate groups in glycoproteins and glycolipids (Lee et al., 1999 [PubMed 10207017]).[supplied by OMIM, Mar 2008]., [RefSeq]; Transfers the sialyl group (N-acetyl-alpha-neuraminyl or NeuAc) from CMP-NeuAc to the GalNAc residue on the NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc sequence of glycoproteins and glycolipids forming an alpha-2,6-linkage. Produces branched type disialyl structures by transfer of a sialyl group onto a GalNAc residue inside the backbone core chains. ST6GalNAcIII prefers glycolipids to glycoproteins, predominantly catalyzing the biosynthesis of ganglioside GD1alpha from GM1b (PubMed:16169874, PubMed:17123352). GD1alpha is a critical molecule in the communication and interaction between neuronal cells and their supportive cells, particularly in brain tissues, and functions as an adhesion molecule in the process of metastasis (By similarity). Sialylation of glycoproteins or glycosphingolipids is very important in tumor development, neuronal development, nerve repair, immunological processes and regulation of hormone sensitivity (PubMed:17123352)., [UniProtKB, 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": 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": 450, "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": "Q6PCE0;Q6UX29;Q8N259", "ec_number_list": "2.4.3.1;2.4.3.2;2.4.3.4;2.4.3.6;2.4.3.7;2.4.99.-;2.4.3.3", "go_molecular_function": "GO:0008373 sialyltransferase activity;GO:0001665 alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity;GO:0047290 alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:0019082 viral protein processing;GO:0009101 glycoprotein biosynthetic process;GO:0006687 glycosphingolipid metabolic process;GO:0009311 oligosaccharide metabolic process;GO:0009100 glycoprotein metabolic process", "synthesized_glycan_count": 550, "hit_score": 9.1, "record_id": "Q8NDV1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UWF3-1", "uniprot_id": "SCIMP_HUMAN", "mass": 16618.0, "length": 145, "protein_name": "SLP adapter and CSK-interacting membrane protein", "gene_name": "SCIMP", "organism": "Human", "refseq_name": "SLP adapter and CSK-interacting membrane protein isoform 2", "refseq_ac": "NP_001258771", "gene_names_uniprotkb": "SCIMP; C17orf87; PRO16090", "gene_names_refseq": "C17orf87; SCIMP; UNQ5783", "protein_names_uniprotkb": "SLP adapter and CSK-interacting membrane protein; SLP65/SLP76, Csk-interacting membrane protein", "protein_names_refseq": "DTFT5783; SLP adapter and CSK-interacting membrane protein isoform 2; SLP65/SLP76, Csk-interacting membrane protein; transmembrane protein C17orf87", "tax_id": 9606, "disease": "", "pathway": " (hsa:388325)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;12975309;21930792;24715725;26375851;27920218;28649982;29242379;29314611;29632711;29769354;31530632;31844290;32350084;34433824;35154160;37057624", "class_list": "", "function": "Lipid tetraspanin-associated transmembrane adapter/mediator that acts as a scaffold for Src-family kinases and other signaling proteins in immune cells (PubMed:21930792). It is involved in major histocompatibility complex class II (MHC-II) signaling transduction in B cells, where it is required in generating the calcium response and enhancing ERK activity upon MHC-II stimulation (PubMed:21930792). In dendritic cells, it is involved in sustaining CLEC7A/DECTIN1 signaling after CLEC7A activation by fungal beta-glucans (By similarity). It also acts as an agonist-inducible signaling adapter for TLR1, TLR2, TLR3, TLR4, and TLR7 by selectively enabling the expression of pro-inflammatory cytokines IL6 and IL12B in macrophages and acting as a scaffold for phosphorylation of Toll-like receptors by Src-family kinases (By similarity)., [UniProtKB, UniProtKB, PubMed]; Results suggest that SCIMP is involved in signal transduction after MHC-II stimulation and therefore serves as a regulator of antigen presentation and other APC functions., [RefSeq, PubMed]; SCIMP: A Novel Targeted Gene for Postmenopausal Osteoporosis Progression., [RefSeq, PubMed]; This gene encodes a transmembrane adaptor protein that is expressed in antigen-presenting cells and is localized in the immunologic synapse. The encoded protein is involved in major histocompatibility complex class II signal transduction and immune synapse formation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 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": 4, "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": "A6XGL4;B4DLK1;Q96MD0", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity", "go_cellular_component": "GO:0016020 membrane;GO:0043235 receptor complex;GO:0097197 tetraspanin-enriched microdomain;GO:0030175 filopodium;GO:0045335 phagocytic vesicle", "go_biological_process": "GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0032755 positive regulation of interleukin-6 production;GO:0002720 positive regulation of cytokine production involved in immune response;GO:0034142 toll-like receptor 4 signaling pathway;GO:0034154 toll-like receptor 7 signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q6UWF3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P09661-1", "uniprot_id": "RU2A_HUMAN", "mass": 28416.0, "length": 255, "protein_name": "U2 small nuclear ribonucleoprotein A'", "gene_name": "SNRPA1", "organism": "Human", "refseq_name": "U2 small nuclear ribonucleoprotein A'", "refseq_ac": "NP_003081", "gene_names_uniprotkb": "SNRPA1", "gene_names_refseq": "Lea1; SNRPA1; U2A'", "protein_names_uniprotkb": "U2 small nuclear ribonucleoprotein A'; U2 snRNP A'", "protein_names_refseq": "U2 small nuclear ribonucleoprotein A'; U2 small nuclear ribonucleoprotein polypeptide A'; U2 snRNP A'", "tax_id": 9606, "disease": "azoospermia (Disease Ontology:DOID:14227); connective tissue disease (Disease Ontology:DOID:65)", "pathway": " (hsa:6627); (R-HSA-72163); (R-HSA-8950505); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9943411)", "pathway_count": 6, "publication_count": 210, "publication_id_list": "10.1101/2023.09.13.557529;10199952;10339552;10669729;10882114;11014198;11060040;11101529;11233976;11237011;11747608;11991638;12176931;12411573;12414731;12477934;12682017;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15565158;15647753;16038020;16263726;16314458;16372014;16809785;17095540;17128255;17332742;17377532;17433364;17606899;17717186;18042460;18288197;18322460;18452278;18593880;18669648;19103666;19165350;19217410;19369195;19536130;19608861;19651622;19690332;19748539;20068231;20211137;20423332;20695905;20980672;21295486;21536652;2176635;21911577;22046413;22110043;22365833;22569126;22813749;22922743;22959432;22961380;23186163;23222130;23236153;23345524;23874216;24076191;24149845;24196718;24304693;24366607;24448447;24714562;24737827;24914973;25301780;25301781;25555158;25576301;2558966;25645385;25810538;25880248;26092250;26154972;26385511;26420826;26758079;26969736;26992070;27035939;27108190;27377154;27459055;27543614;27600516;27661449;27683217;27846572;27862975;27920218;28062851;28076346;28096519;28228285;28502770;28510447;28649982;28781166;28832583;28834231;28904123;28911096;29186539;29242379;29274231;2928112;29301961;29360106;29361316;29557506;29632046;29632711;2963332;29786170;29902443;30139799;30192525;30257008;30315122;30315277;30429286;30599162;30620550;30705154;30728453;30765414;30975767;31092671;31154438;31217245;31222486;31409651;31530632;31844290;32157095;32161166;32179686;32329775;32350084;32387766;32488085;32494006;32816001;32938616;32983136;33043033;33177556;33214551;33243851;33446560;33592498;33717175;33912179;33968037;34019948;34171305;34229054;34301950;34357683;34509645;34822310;34932366;35051231;35177536;35215846;35251023;35385551;35580925;36010968;36215666;36284347;36797247;37277111;3757028;37938771;40596516;40914422;8566756;8608946;9016565;9242493;9512519;9524131;9531537;9539711;9659921;9671485;9701291;9716128;9731529", "class_list": "", "function": "High SNRPA1 expression leads to poor prognosis in patients with lung adenocarcinoma., [RefSeq, PubMed]; Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:27035939, 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:27035939, PubMed:32494006, PubMed:9716128)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Involved in pre-mRNA splicing as component of the spliceosome. Associated with sn-RNP U2, where it contributes to the binding of stem loop IV of U2 snRNA., [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": 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": 7, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R5I6;Q8TBD2", "ec_number_list": "", "go_molecular_function": "GO:0030620 U2 snRNA binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex;GO:0016604 nuclear body", "go_biological_process": "GO:0007283 spermatogenesis;GO:0008380 RNA splicing;GO:0000387 spliceosomal snRNP assembly;GO:0000398 mRNA splicing, via spliceosome;GO:1903241 U2-type prespliceosome assembly", "synthesized_glycan_count": 0, "hit_score": 21.5, "record_id": "P09661-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43278-1", "uniprot_id": "SPIT1_HUMAN", "mass": 58398.0, "length": 529, "protein_name": "Kunitz-type protease inhibitor 1", "gene_name": "SPINT1", "organism": "Human", "refseq_name": "kunitz-type protease inhibitor 1 isoform 2 precursor", "refseq_ac": "NP_001027539", "gene_names_uniprotkb": "SPINT1; HAI1; PRO256", "gene_names_refseq": "HAI1; HAI; MANSC2; SPINT1", "protein_names_uniprotkb": "Kunitz-type protease inhibitor 1; HAI-1; Hepatocyte growth factor activator inhibitor type 1", "protein_names_refseq": "HAI-1; Kunitz-type protease inhibitor 1; hepatocyte growth factor activator inhibitor type 1; kunitz-type protease inhibitor 1 isoform 2 precursor; serine protease inhibitor, Kunitz type 1", "tax_id": 9606, "disease": "prostate carcinoma (Disease Ontology:DOID:10286); Alzheimer's disease (Disease Ontology:DOID:10652); biliary atresia (Disease Ontology:DOID:13608); breast cancer (Disease Ontology:DOID:1612); ovarian cancer (Disease Ontology:DOID:2394); liver cirrhosis (Disease Ontology:DOID:5082); stomach carcinoma (Disease Ontology:DOID:5517); psoriasis (Disease Ontology:DOID:8893)", "pathway": " (hsa:6692); (R-HSA-6806942); (R-HSA-8852405)", "pathway_count": 3, "publication_count": 68, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10373425;11237011;12726861;1280830;12975309;15167892;15218027;15301554;15324701;15340161;15632155;15713485;15792801;16537482;1655790;18669648;1885621;20228799;20545605;20726546;20977675;21875933;22087277;23584533;24409221;25193665;25502872;25576301;25813380;28710277;29242379;30459171;30779550;31092671;31844290;32157095;32350084;32897882;32983136;33981976;34087483;34357683;34381422;35020274;35051231;35154160;35251023;35318648;35332604;35580925;37076641;38838015;7513258;7651534;7708691;7854452;7854453;8197126;8208547;8302603;8346233;9045658;9140397;9202013;9346890;9657372", "class_list": "", "function": "Comprehensive Analysis of the Expression and Prognostic Value of SPINT1/2 in Breast Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; HAI-1 is required for the novel role of FGFBP1 in maintenance of cell morphology and F-actin rearrangement in human keratinocytes., [RefSeq, PubMed]; Inhibitor of HGFAC (PubMed:9045658). Inhibits serine protease activity of ST14/matriptase in vitro (PubMed:28710277). Inhibits serine protease activity of TMPRSS13, via the BPTI/Kunitz inhibitor 1 domain (PubMed:20977675)., [UniProtKB, PubMed, PubMed, PubMed]; Inhibitor of HGFAC. Inhibits serine protease activity of ST14/matriptase in vitro. Inhibits serine protease activity of TMPRSS13, via the BPTI/Kunitz inhibitor 1 domain., [UniProtKB, UniProtKB, UniProtKB]; Insufficiency of hepatocyte growth factor activator inhibitor-1 confers lymphatic invasion of tongue carcinoma cells., [RefSeq, PubMed]; Role of the polycystic kidney disease domain in matriptase chaperone activity and localization of hepatocyte growth factor activator inhibitor-1. Review article, [RefSeq, PubMed]; The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 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": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 8, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z7D2", "ec_number_list": "", "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0060429 epithelium development;GO:0045687 positive regulation of glial cell differentiation;GO:0030198 extracellular matrix organization;GO:0008544 epidermis development;GO:0071773 cellular response to BMP stimulus", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "O43278-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H0E3-1", "uniprot_id": "SP130_HUMAN", "mass": 110324.0, "length": 1048, "protein_name": "Histone deacetylase complex subunit SAP130", "gene_name": "SAP130", "organism": "Human", "refseq_name": "histone deacetylase complex subunit SAP130 isoform a", "refseq_ac": "NP_001139400", "gene_names_uniprotkb": "SAP130", "gene_names_refseq": "SAP130", "protein_names_uniprotkb": "Histone deacetylase complex subunit SAP130; 130 kDa Sin3-associated polypeptide; Sin3-associated polypeptide p130", "protein_names_refseq": "130 kDa Sin3-associated polypeptide; Sin3-associated polypeptide p130; Sin3A associated protein 130kDa; histone deacetylase complex subunit SAP130 isoform a; histone deacetylase complex subunit SAP130", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); hypoplastic left heart syndrome (Disease Ontology:DOID:9955)", "pathway": " (hsa:79595); (R-HSA-3214847); (R-HSA-427413)", "pathway_count": 3, "publication_count": 117, "publication_id_list": "10471499;10786633;10821277;11230166;11237011;12724404;14610093;15313887;15561718;16387653;17081983;17355984;18381289;18452278;18623064;18669648;19088080;19187765;19691289;19838300;20018852;20068231;21406692;22661428;23186163;23481700;24129315;24715725;25218447;25576301;25645385;25755297;25916849;26024233;26154972;26992070;27600516;27655845;27846572;27920218;28218747;28228285;28446606;28514659;28657654;28832583;28834231;29237092;29242379;29331515;29351928;29508533;29557506;29632046;29632711;30059200;30315122;30379171;30397120;30524438;30833945;31154438;31217245;31492838;31844290;31848261;31998317;32119511;32157095;32161166;32357974;32387766;32502341;32574038;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33592498;33691108;33800128;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34725712;34846842;35051231;35132862;35254053;35289036;35318648;35513511;35580925;36010968;36215666;36241641;37340703;37541260;38665916;39302247;39531497;39534244;40136647;40596516;7597036;9427644;9558366;9880483", "class_list": "", "function": "Acts as a transcriptional repressor. May function in the assembly and/or enzymatic activity of the mSin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes., [UniProtKB, PubMed]; Ambiguity about Splicing Factor 3b Subunit 3 (SF3B3) and Sin3A Associated Protein 130 (SAP130). Publication Status: Online-Only, [RefSeq, PubMed]; SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008]., [RefSeq]; The TGFbeta pathway activation leads to recruitment of a KLF14-mSin3A-HDAC2 repressor complex to the TGFbetaRII promoter, as well as the remodeling of chromatin to increase histone marks that associate with transcriptional silencing., [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": 50, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 50, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 50, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 68, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 51, "binding_glycan_count": 0, "secondary_ac_list": "B7ZLM3;C9K0X9;Q4ZFV4;Q53T46;Q8WVW4;Q9H9G8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0016607 nuclear speck;GO:0070822 Sin3-type complex", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:1902455 negative regulation of stem cell population maintenance;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0030336 negative regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 17.0, "record_id": "Q9H0E3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WUG5-1", "uniprot_id": "S22AH_HUMAN", "mass": 68619.0, "length": 649, "protein_name": "Solute carrier family 22 member 17", "gene_name": "SLC22A17", "organism": "Human", "refseq_name": "solute carrier family 22 member 17 isoform c", "refseq_ac": "NP_001275979", "gene_names_uniprotkb": "SLC22A17; BOCT; BOIT", "gene_names_refseq": "24p3R; BOCT; BOIT; NGALR2; NGALR3; NGALR; SLC22A17; hBOIT", "protein_names_uniprotkb": "Solute carrier family 22 member 17; 24p3 receptor; 24p3R; Brain-type organic cation transporter; Lipocalin-2 receptor; Neutrophil gelatinase-associated lipocalin receptor; NgalR", "protein_names_refseq": "24p3 receptor; NGAL receptor; brain-type organic cation transporter; lipocalin-2 receptor; neutrophil gelatinase-associated lipocalin receptor; potent brain type organic ion transporter; solute carrier family 22 (organic cation transporter), member 17; solute carrier family 22 member 17 isoform c", "tax_id": 9606, "disease": "", "pathway": " (hsa:51310); (R-HSA-917937)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10.1038/emboj.2013.79;10597293;11237011;11323407;12453412;12504026;12958161;14576842;15001581;15044468;15201052;15531878;15537541;16143108;16274220;16377569;16407072;16510471;17253959;18194661;19047093;19229297;1946430;19762596;19762597;20550936;21184133;21305251;2154449;23584533;23615448;30138675;30429286;31154438;31848261;32164594;38391165;38738428;7983023;8041788;8695634", "class_list": "", "function": "Cell surface receptor for LCN2 (24p3) that plays a key role in iron homeostasis and transport. Able to bind iron-bound LCN2 (holo-24p3), followed by internalization of holo-24p3 and release of iron, thereby increasing intracellular iron concentration and leading to inhibition of apoptosis. Also binds iron-free LCN2 (apo-24p3), followed by internalization of apo-24p3 and its association with an intracellular siderophore, leading to iron chelation and iron transfer to the extracellular medium, thereby reducing intracellular iron concentration and resulting in apoptosis (By similarity)., [UniProtKB]; Identification of immune cells and mRNA associated with prognosis of gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; NGALR hypomethylation contributes to its expression in esophageal carcinomas and that this overexpression may play a role in the pathogenesis of esophageal carcinomas., [RefSeq, PubMed]; Neutrophil gelatinase-associated lipocalin receptor (NGALR) is differentially expressed in human glomerular disease and is significantly up-regulated by Il-1beta in HMC via MAPK/ERK activation., [RefSeq, PubMed]; Results showed the expression levels of NGAL and NGALR significantly downregulated in clear cell renal cell carcinoma samples., [RefSeq, PubMed]; SLC22A17 as a Cell Death-Linked Regulator of Tight Junctions in Cerebral Ischemia., [RefSeq, PubMed]; The mRNA of solute carrier family 22, member 17 (SLC22A17) plays the potential diagnostic and prognostic role in advantage non-small cell lung cancer patients., [RefSeq, PubMed]; This study suggested that NGAL and NGALR expression are frequently up-regulated in gliomas, and are closely associated with poor clinical outcome., [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": 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": 9, "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": "A0A1C7CYV9;A4UA13;A8MUT0;Q2TAB0;Q5BKY8;Q86U04;Q9H1D3;Q9NQD5", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005774 vacuolar membrane;GO:0031090 organelle membrane", "go_biological_process": "GO:0006879 intracellular iron ion homeostasis;GO:0015891 siderophore transport", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q8WUG5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2NKQ1-1", "uniprot_id": "SGSM1_HUMAN", "mass": 129718.0, "length": 1148, "protein_name": "Small G protein signaling modulator 1", "gene_name": "SGSM1", "organism": "Human", "refseq_name": "small G protein signaling modulator 1 isoform 2", "refseq_ac": "NP_597711", "gene_names_uniprotkb": "SGSM1; KIAA1941; RUTBC2", "gene_names_refseq": "RUTBC2; SGSM1", "protein_names_uniprotkb": "Small G protein signaling modulator 1; RUN and TBC1 domain-containing protein 2", "protein_names_refseq": "RUN and TBC1 domain containing 2; RUN and TBC1 domain-containing protein 2; small G protein signaling modulator 1 isoform 2; small G protein signaling modulator 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:129049)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;17509819;18477386;19077034;19913121;20628086;22637480;23481700;26992070;27397612;28834231;29557506;30779550;31844290;31848261;32157095;32938616;34087483;35051231;35484511;35580925;36215666", "class_list": "", "function": "Identification of novel protein SGSM1 which modulate small G protein (RAP and RAB)-mediated signaling pathway., [RefSeq, PubMed]; Interacts with numerous Rab family members, functioning as Rab effector for some, and as GTPase activator for others. Promotes GTP hydrolysis by RAB34 and RAB36. Probably functions as a GTPase effector with RAB9A and RAB9B; does not stimulate GTP hydrolysis with RAB9A and RAB9B., [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]; Prognostic biomarker SGSM1 and its correlation with immune infiltration in gliomas. Publication Status: Online-Only, [RefSeq, PubMed]; These data show that RUTBC2 can act as a Rab36 GAP in cells and suggest that RUTBC2 links Rab9A function to Rab36 function in the endosomal system., [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": 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": "A5LGW1;A8MUT4;B0QYW0;B0QYW1;B5MEG1;B9A6J4;Q5TFL3;Q8TF60", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0030659 cytoplasmic vesicle membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q2NKQ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NYB5-1", "uniprot_id": "SO1C1_HUMAN", "mass": 78696.0, "length": 712, "protein_name": "Solute carrier organic anion transporter family member 1C1", "gene_name": "SLCO1C1", "organism": "Human", "refseq_name": "solute carrier organic anion transporter family member 1C1 isoform 4", "refseq_ac": "NP_001139416", "gene_names_uniprotkb": "SLCO1C1; OATP14; OATP1C1; OATPF; SLC21A14", "gene_names_refseq": "OATP-F; OATP-RP5; OATP14; OATP1C1; OATP1; OATPF; OATPRP5; SLC21A14; SLCO1C1", "protein_names_uniprotkb": "Solute carrier organic anion transporter family member 1C1; OAT-RP-5; OATP-14; OATP-F; OATP-RP5; OATP1C1; Organic anion transporter 1C1; Organic anion transporter F; Organic anion transporter polypeptide-related protein 5; Organic anion-transporting polypeptide 14; Solute carrier family 21 member 14; Thyroxine transporter", "protein_names_refseq": "OAT-RP-5; OATP-14; organic anion transporter 1C1; organic anion transporter F; organic anion transporter polypeptide-related protein 5; organic anion transporting polypeptide 14; solute carrier family 21 (organic anion transporter), member 14; solute carrier family 21 member 14; solute carrier organic anion transporter family member 1C1 isoform 4; thyroxine transporter", "tax_id": 9606, "disease": "primary biliary cholangitis (Disease Ontology:DOID:12236)", "pathway": " (hsa:53919); (R-HSA-879518)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "10358072;10601278;11159893;11237011;11316767;12351693;14993604;16971491;18566113;18687783;19129463;19797118;23481700;24715725;25527620;29314611;29557506;30296914;30343886;31154438;35051231;35307651;36621146;36834621;37298594;38253038;40680733;8787677", "class_list": "", "function": "Mediates the Na(+)-independent high affinity transport of organic anions such as the thyroid hormones L-thyroxine (T4), L-thyroxine sulfate (T4S), and 3,3',5'-triiodo-L-thyronine (reverse T3, rT3) at the plasma membrane (PubMed:12351693, PubMed:18566113, PubMed:19129463, PubMed:40680733). Regulates T4 levels in different brain regions by transporting T4, and also by serving as an export pump for T4S, which is a source of T4 after hydrolysis by local sulfatases (PubMed:18566113). Increases the access of these substrates to the intracellular sites where they are metabolized by the deiodinases (PubMed:18566113). Other potential substrates, such as triiodothyronine (T3), 17-beta-glucuronosyl estradiol (17beta-estradiol 17-O-(beta-D-glucuronate)), estrone-3-sulfate (E1S) and sulfobromophthalein (BSP) are transported with much lower efficiency (PubMed:12351693, PubMed:19129463, PubMed:40680733). Transports T4 and E1S in a pH-insensitive manner (PubMed:19129463). Facilitates the transport of thyroid hormones across the blood-brain barrier and into glia and neuronal cells in the brain (PubMed:30296914)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Single nucleotide polymorphisms in ADAM17, IL23R and SLCO1C1 genes protect against infliximab failure in adults with Crohn's disease., [RefSeq, PubMed]; This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]., [RefSeq]; Thyroid Hormone Transporters MCT8 and OATP1C1 Are Expressed in Projection Neurons and Interneurons of Basal Ganglia and Motor Thalamus in the Adult Human and Macaque Brains. Publication Status: Online-Only, [RefSeq, PubMed]; Thyroid Hormone Transporters MCT8 and OATP1C1 Are Expressed in Pyramidal Neurons and Interneurons in the Adult Motor Cortex of Human and Macaque Brain. Publication Status: Online-Only, [RefSeq, PubMed]; We have isolated and functionally characterized OATP-F. OATP-F has a more selective substrate preference and may play an important role in the disposition of thyroid hormones in brain and testis., [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": 0, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 41, "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": "B7Z251;B7Z3Q3;B7Z8P1;F5GZD6;Q5JPA4", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015125 bile acid transmembrane transporter activity;GO:0015349 thyroid hormone transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0055085 transmembrane transport;GO:0015721 bile acid and bile salt transport;GO:0043252 sodium-independent organic anion transport;GO:2000611 positive regulation of thyroid hormone generation", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9NYB5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60292-1", "uniprot_id": "SI1L3_HUMAN", "mass": 194610.0, "length": 1781, "protein_name": "Signal-induced proliferation-associated 1-like protein 3", "gene_name": "SIPA1L3", "organism": "Human", "refseq_name": "signal-induced proliferation-associated 1-like protein 3", "refseq_ac": "NP_055888", "gene_names_uniprotkb": "SIPA1L3; KIAA0545; SPAL3", "gene_names_refseq": "CTRCT45; SIPA1L3; SPAL3; SPAR3", "protein_names_uniprotkb": "Signal-induced proliferation-associated 1-like protein 3; SIPA1-like protein 3; SPA-1-like protein 3", "protein_names_refseq": "SIPA1-like protein 3; SPA-1-like protein 3; signal-induced proliferation-associated 1-like protein 3; spine-associated RapGAP 3", "tax_id": 9606, "disease": "cataract 45 (Disease Ontology:DOID:0110262); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:23094)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "11237011;18452278;18669648;18691976;19413330;19608861;19664994;19664995;19690332;23186163;23481700;24275569;24366607;25576301;25645385;25804400;26231217;26375851;26992070;27846572;28228285;28832583;28834231;28904123;29242379;29331515;29437277;29557506;29632711;29786170;29789417;30315122;30779550;30924596;31020640;31154438;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;33592498;33691108;33912179;33968037;33981976;34185709;34509645;34561969;34932366;35051231;36284347;37074911;38253038;39531497;40136647", "class_list": "", "function": "Abnormalities of SIPA1L3 contribute to lens and eye defects, and we identify a critical role for SIPA1L3 in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization., [RefSeq, PubMed]; Plays a critical role in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization in the lens (PubMed:26231217)., [UniProtKB, PubMed]; Smoking cessation benefited survival of LUAD patients with low methylation at cg02268510SIPA 1L3 . The results have implications for not only smoking cessation after diagnosis, but also possible methylation-specific drug targeting., [RefSeq, PubMed]; This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization of the cytoskeleton. Like other members of the family, the protein encoded by this gene contains RapGAP and PDZ domains. In addition, this protein contains a C-terminal leucine zipper domain. This gene is proposed to function in epithelial cell morphogenesis and establishment or maintenance of polarity. Consistently, expression of the protein in cell culture showed localization to cell-cell borders in apical regions, and downregulation of the gene in 3D Caco2 cell culture resulted in abnormal cell polarity and morphogenesis. Allelic variants of this gene have been associated with congenital cataracts in humans. [provided by RefSeq, Feb 2016]., [RefSeq]; Whole-exome sequencing identified a homozygous nonsense variant in SIPA1L3 in two sisters with congenital cataract., [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": 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": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 54, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q2TV87", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0045177 apical part of cell", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0007010 cytoskeleton organization;GO:0003382 epithelial cell morphogenesis;GO:0090162 establishment of epithelial cell polarity;GO:0001654 eye development", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "O60292-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZSJ9-1", "uniprot_id": "SHSA6_HUMAN", "mass": 55764.0, "length": 500, "protein_name": "Protein shisa-6", "gene_name": "SHISA6", "organism": "Human", "refseq_name": "protein shisa-6 isoform 2 precursor", "refseq_ac": "NP_001166932", "gene_names_uniprotkb": "SHISA6", "gene_names_refseq": "SHISA6", "protein_names_uniprotkb": "Protein shisa-6", "protein_names_refseq": "protein shisa-6 homolog; protein shisa-6 isoform 2 precursor; shisa homolog 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:388336)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16473350;28411811;29557506;30379171;31844290;32387766;35051231;35490390;36241641", "class_list": "", "function": "Genetic variants in the SHISA6 gene are associated with delayed cognitive impairment in two family datasets., [RefSeq, PubMed]; Involved in maintenance of high-frequency synaptic transmission at hippocampal CA3-CA1 synapses. Regulates AMPA-type glutamate receptor (AMPAR) immobilization at postsynaptic density keeping the channels in an activated state in the presence of glutamate and preventing synaptic depression. May play a role in self-renewal and differentiation of spermatogonial stem cells by inhibiting canonical Wnt signaling pathway., [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": 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": 16, "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": "B3KXV5;Q4PL63", "ec_number_list": "", "go_molecular_function": "GO:0030165 PDZ domain binding;GO:0035255 ionotropic glutamate receptor binding", "go_cellular_component": "GO:0014069 postsynaptic density;GO:0045211 postsynaptic membrane;GO:0032281 AMPA glutamate receptor complex;GO:0032591 dendritic spine membrane;GO:0098839 postsynaptic density membrane", "go_biological_process": "GO:1904717 regulation of AMPA glutamate receptor clustering;GO:0048172 regulation of short-term neuronal synaptic plasticity;GO:0098976 excitatory chemical synaptic transmission;GO:0007283 spermatogenesis;GO:0090090 negative regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q6ZSJ9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NR31-1", "uniprot_id": "SAR1A_HUMAN", "mass": 22367.0, "length": 198, "protein_name": "Small COPII coat GTPase SAR1A", "gene_name": "SAR1A", "organism": "Human", "refseq_name": "small COPII coat GTPase SAR1A", "refseq_ac": "NP_001136120", "gene_names_uniprotkb": "SAR1A; SAR1; SARA1; SARA", "gene_names_refseq": "SAR1A; SAR1; SARA1; Sara; masra2", "protein_names_uniprotkb": "Small COPII coat GTPase SAR1A; 3.6.5.2; COPII-associated small GTPase; Secretion-associated Ras-related GTPase 1A", "protein_names_refseq": "COPII-associated small GTPase; GTP-binding protein SAR1a; SAR1 gene homolog A; SAR1 homolog A; SAR1a gene homolog 1; small COPII coat GTPase SAR1A", "tax_id": 9606, "disease": "", "pathway": " (hsa:56681)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "10871277;11230166;11237011;16385451;17005010;18669648;19181664;19651622;20068231;23186163;23433038;23481700;25418920;25576301;25880248;26992070;27846572;28510447;28904123;29557506;30429286;31217245;31844290;32157095;32350084;32357974;32358066;32387766;32488085;32690950;32897882;32938616;32983136;33298915;33592498;33968037;33981976;34019948;34087483;34171305;34290409;34357683;35051231;35138101;35580925;36010968;36047971;36241641;36284347;36369712;37217939;37938771;38665916;38687799", "class_list": "", "function": "Functional overlap between the mammalian Sar1a and Sar1b paralogs in vivo., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SAR1A regulates the RhoA/YAP and autophagy signaling pathways to influence osteosarcoma invasion and metastasis., [RefSeq, PubMed]; Small GTPase that cycles between an active GTP-bound and an inactive GDP-bound state and mainly functions in vesicle-mediated endoplasmic reticulum (ER) to Golgi transport. The active GTP-bound form inserts into the endoplasmic reticulum membrane where it recruits the remainder of the coat protein complex II/COPII. The coat protein complex II assembling and polymerizing on endoplasmic reticulum membrane is responsible for both the sorting of cargos and the deformation and budding of membranes into vesicles destined to the Golgi (PubMed:23433038, PubMed:32358066, PubMed:36369712). The GTPase activity of SAR1 by controlling the timing of COPII budding regulates the size of the formed vesicles and is important for cargo selection depending on their size (PubMed:32358066). Together with SEC16A, forms the organized scaffold defining endoplasmic reticulum exit sites (ERES), some specific domains of the endoplasmic reticulum where COPII vesicles form (PubMed:17005010). In addition to its role in vesicle trafficking, can also function as a leucine sensor regulating TORC1 signaling and more indirectly cellular metabolism, growth and survival. In absence of leucine, interacts with the GATOR2 complex via MIOS and inhibits TORC1 signaling. The binding of leucine abrogates the interaction with GATOR2 and the inhibition of the TORC1 signaling. This function is completely independent of the GTPase activity of SAR1B (PubMed:34290409)., [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": 1, "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": "B4DQ19", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;3.6.1.-;3.6.5.4;2.7.11.1;3.6.-.-;3.6.1.15;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0003925 G protein activity;GO:0140785 amino acid sensor activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005765 lysosomal membrane;GO:0005789 endoplasmic reticulum membrane;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0090110 COPII-coated vesicle cargo loading;GO:0006886 intracellular protein transport;GO:0061024 membrane organization;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0048208 COPII vesicle coating", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q9NR31-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q12768-1", "uniprot_id": "WASC5_HUMAN", "mass": 134286.0, "length": 1159, "protein_name": "WASH complex subunit 5", "gene_name": "WASHC5", "organism": "Human", "refseq_name": "WASH complex subunit 5 isoform 1", "refseq_ac": "NP_055661", "gene_names_uniprotkb": "WASHC5; KIAA0196", "gene_names_refseq": "KIAA0196; RTSC1; RTSC; SPG8; WASHC5", "protein_names_uniprotkb": "WASH complex subunit 5; Strumpellin; WASH complex subunit strumpellin", "protein_names_refseq": "WASH complex subunit 5 isoform 1; WASH complex subunit strumpellin; strumpellin", "tax_id": 9606, "disease": "Ritscher-Schinzel syndrome (Disease Ontology:DOID:0060565); Ritscher-Schinzel syndrome 1 (Disease Ontology:DOID:0060571); hereditary spastic paraplegia 8 (Disease Ontology:DOID:0110823)", "pathway": " (hsa:9897)", "pathway_count": 1, "publication_count": 93, "publication_id_list": "11237011;14603436;17160902;18691976;19922875;20112406;20498093;20833645;23085491;23186163;23455931;23481700;23676666;23881105;24065355;24715725;25418920;25454649;25505266;25576301;25645385;25880248;25892735;26154972;26375851;26811146;26967522;26992070;27600516;27846572;27920218;28063628;28228285;28510447;28514659;28832583;28904123;29242379;29393594;29508533;29557506;29632046;29769354;29786170;30315122;30524438;30779550;30833945;31055811;31154438;31217245;31530632;31814071;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35251023;35318648;35580925;36010968;36130690;36241641;36284347;36581221;37938771;38253038;39302247", "class_list": "", "function": "A novel missense mutation was identified in the KIAA0196 gene in a Japanese patient with SPG8., [RefSeq, PubMed]; Acts as a component of the WASH core complex that functions as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093). May be involved in axonal outgrowth. Involved in cellular localization of ADRB2 (PubMed:23085491). Involved in cellular trafficking of BLOC-1 complex cargos such as ATP7A and VAMP7 (PubMed:23676666)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Clinical phenotype of the c.1771T>C mutation of KIAA0196 has a considerable heterogeneity and this mutation may be a common pathogenic site of KIAA0196 mutations among Chinese patients with hereditary spastic paraplegia, [RefSeq, PubMed]; Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes., [RefSeq, PubMed]; SPG8 mutations in Italian families: clinical data and literature review. Review article, [RefSeq, PubMed]; The expression of KIAA0196 at chromosomal region 8q24 is significantly higher in prostate carcinomas with gene amplification than in those without it., [RefSeq, PubMed]; This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [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": 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": 35, "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": "A8K4R7;Q3KQX5;Q8TBQ2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005768 endosome;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0043025 neuronal cell body", "go_biological_process": "GO:0051125 regulation of actin nucleation;GO:0010976 positive regulation of neuron projection development;GO:0015031 protein transport;GO:0007032 endosome organization;GO:0016197 endosomal transport", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q12768-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96E16-1", "uniprot_id": "SMI19_HUMAN", "mass": 12439.0, "length": 107, "protein_name": "Small integral membrane protein 19", "gene_name": "SMIM19", "organism": "Human", "refseq_name": "small integral membrane protein 19 isoform 1", "refseq_ac": "NP_001129146", "gene_names_uniprotkb": "SMIM19; C8orf40", "gene_names_refseq": "C8orf40; SMIM19", "protein_names_uniprotkb": "Small integral membrane protein 19", "protein_names_refseq": "UPF0697 protein C8orf40; small integral membrane protein 19 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:114926)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;27862975;28218747;28832583;28904123;29242379;29437277;31530632;31844290;31848261;32157095;33717175;33912179;34087483;34561969;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": 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": "B2R4S6;D3DSY4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q96E16-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99624-1", "uniprot_id": "S38A3_HUMAN", "mass": 55773.0, "length": 504, "protein_name": "Sodium-coupled neutral amino acid transporter 3", "gene_name": "SLC38A3", "organism": "Human", "refseq_name": "sodium-coupled neutral amino acid transporter 3", "refseq_ac": "NP_006832", "gene_names_uniprotkb": "SLC38A3; G17; NAT1; SN1; SNAT3", "gene_names_refseq": "DEE102; G17; NAT1; SLC38A3; SN1; SNAT3", "protein_names_uniprotkb": "Sodium-coupled neutral amino acid transporter 3; N-system amino acid transporter 1; Na(+)-coupled neutral amino acid transporter 3; Solute carrier family 38 member 3; System N amino acid transporter 1", "protein_names_refseq": "N-system amino acid transporter 1; Na(+)-coupled neutral amino acid transporter 3; sodium-coupled neutral amino acid transporter 3; system N amino acid transporter 1; system N1 Na+ and H+-coupled glutamine transporter", "tax_id": 9606, "disease": "metabolic acidosis (Disease Ontology:DOID:0050758); developmental and epileptic encephalopathy 102 (Disease Ontology:DOID:0070388)", "pathway": " (hsa:10991); (R-HSA-352230)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10358010;10391915;10485994;10698697;10823827;10863037;10891391;10903140;10930503;11237011;11243884;11278508;11318953;11342143;11417227;11591158;11827462;12202949;12527723;12788082;12809675;12930836;15151999;15659399;15918515;18195088;20166139;21097500;24652292;28202352;28218747;28514659;28832583;28834231;29242379;29331515;29632711;30524438;30573663;32387766;33592498;34509645;34605855;35051231;35580925;36241641;37938771;38309615;7589472;8010975;8101838;8340364;8702519;8910405;9174363;9878049", "class_list": "", "function": "Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy., [RefSeq, PubMed]; Glutamine transporter SLC38A3 promotes breast cancer metastasis via Gsk3beta/beta-catenin/EMT pathway., [RefSeq, PubMed]; SLC38A3 activated PDK1/AKT signaling and promoted metastasis of non-small cell lung cancer cells through regulating glutamine and histidine transport., [RefSeq, PubMed]; SN1 is a target for the ubiquitin ligase Nedd4-2, which is inactivated by the serum and glucocorticoid inducible kinase SGK1, its isoform SGK3, and protein kinase B., [RefSeq, PubMed]; Symporter that cotransports specific neutral amino acids and sodium ions, coupled to an H(+) antiporter activity (PubMed:10823827). Mainly participates in the glutamate-GABA-glutamine cycle in brain where it transports L-glutamine from astrocytes in the intercellular space for the replenishment of both neurotransmitters glutamate and gamma-aminobutyric acid (GABA) in neurons and also functions as the major influx transporter in ganglion cells mediating the uptake of glutamine (By similarity). The transport activity is specific for L-glutamine, L-histidine and L-asparagine (PubMed:10823827). The transport is electroneutral coupled to the cotransport of 1 Na(+) and the antiport of 1 H(+) (By similarity). The transport is pH dependent, saturable, Li(+) tolerant and functions in both direction depending on the concentration gradients of its substrates and cotransported ions (PubMed:10823827). Also mediates an amino acid-gated H(+) conductance that is not stoichiometrically coupled to the amino acid transport but which influences the ionic gradients that drive the amino acid transport (By similarity). In addition, may play a role in nitrogen metabolism, amino acid homeostasis, glucose metabolism and renal ammoniagenesis (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB]", "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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2R8Q0;Q6IB34", "ec_number_list": "", "go_molecular_function": "GO:0015180 L-alanine transmembrane transporter activity;GO:0015171 amino acid transmembrane transporter activity;GO:0015186 L-glutamine transmembrane transporter activity;GO:0005290 L-histidine transmembrane transporter activity;GO:0015182 L-asparagine transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007565 female pregnancy;GO:0006865 amino acid transport;GO:0006868 glutamine transport;GO:0010585 glutamine secretion;GO:1903803 L-glutamine import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q99624-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q08AE8-1", "uniprot_id": "SPIR1_HUMAN", "mass": 85544.0, "length": 756, "protein_name": "Protein spire homolog 1", "gene_name": "SPIRE1", "organism": "Human", "refseq_name": "protein spire homolog 1 isoform a", "refseq_ac": "NP_001122098", "gene_names_uniprotkb": "SPIRE1; KIAA1135; SPIR1", "gene_names_refseq": "SPIRE1; Spir-1", "protein_names_uniprotkb": "Protein spire homolog 1; Spir-1", "protein_names_refseq": "protein spire homolog 1 isoform a; protein spire homolog 1; spire actin nucleation factor 1; spire family actin nucleation factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56907)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;11747823;18042452;18669648;19605360;21620703;21705804;21730168;23186163;25576301;26154972;26287480;26992070;27600516;27846572;28649982;28832583;28904123;29242379;29632711;31154438;31844290;31848261;32157095;32488085;32938616;33298915;33592498;33968037;34087483;34171305;34357683;34863993;35084586;35148361;36241641;38253038;38966995", "class_list": "", "function": "Acts as an actin nucleation factor, remains associated with the slow-growing pointed end of the new filament (PubMed:11747823, PubMed:21620703). Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport (PubMed:11747823). Required for asymmetric spindle positioning and asymmetric cell division during meiosis (PubMed:21620703). Required for normal formation of the cleavage furrow and for polar body extrusion during female germ cell meiosis (PubMed:21620703). Also acts in the nucleus: together with FMN2, promotes assembly of nuclear actin filaments in response to DNA damage in order to facilitate movement of chromatin and repair factors after DNA damage (PubMed:26287480). In addition, promotes innate immune signaling downstream of dsRNA sensing (PubMed:35148361). Mechanistically, contributes to IRF3 phosphorylation and activation downstream of MAVS and upstream of TBK1 (PubMed:35148361)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Analysis of the molecular basis of the Spir1/formin-2 interaction, [RefSeq, PubMed]; Both mammalian Spir proteins, Spir-1 and Spir-2, interact with mammalian Fmn subgroup proteins formin-1 and formin-2, [RefSeq, PubMed]; Lnc-SMaRT Translational Regulation of Spire1, A New Player in Muscle Differentiation., [RefSeq, PubMed]; Nuclear F-actin assembly on damaged chromatin is regulated by DYRK1A and Spir1 phosphorylation., [RefSeq, PubMed]; Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008]., [RefSeq]; Spire1 and Myosin Vc promote Ca(2+)-evoked externalization of von Willebrand factor in endothelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; The multifunctional character of the WH2 domains allows Spire to sequester four G-actin subunits binding cooperatively in a tight SA(4) complex and to nucleate, sever, and cap filaments at their barbed ends., [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": 5, "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": "A8K2B5;J3KQ50;J3KQR5;Q1RMD4;Q8NDP1;Q9NQ71;Q9ULT4", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0008017 microtubule binding", "go_cellular_component": "GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005938 cell cortex", "go_biological_process": "GO:0015031 protein transport;GO:0045087 innate immune response;GO:0030036 actin cytoskeleton organization;GO:0016192 vesicle-mediated transport;GO:0051639 actin filament network formation", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q08AE8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NSA0-1", "uniprot_id": "S22AB_HUMAN", "mass": 59972.0, "length": 550, "protein_name": "Solute carrier family 22 member 11", "gene_name": "SLC22A11", "organism": "Human", "refseq_name": "solute carrier family 22 member 11 isoform 2", "refseq_ac": "NP_001294914", "gene_names_uniprotkb": "SLC22A11; OAT4", "gene_names_refseq": "OAT4; SLC22A11; hOAT4", "protein_names_uniprotkb": "Solute carrier family 22 member 11; OAT4; Organic anion transporter 4; Organic anion:dicarboxylate exchanger OAT4", "protein_names_refseq": "organic anion transporter 4; organic anion:dicarboxylate exchanger OAT4; solute carrier family 22 (organic anion/cation transporter), member 11; solute carrier family 22 (organic anion/urate transporter), member 11; solute carrier family 22 member 11 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55867); (R-HSA-561048)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10049739;10660625;11237011;11327718;11855680;11907186;12024214;12409283;14586168;15037815;15102942;15291761;15576633;15634722;15901346;17229912;18501590;24715725;26277985;26377792;28027879;30192525;31844290;32363570;35051231;36436016;37487877;38222853;9762842;9887087;9950961", "class_list": "", "function": "Antiporter that mediates the transport of conjugated steroids and other specific organic anions at the basal membrane of syncytiotrophoblast and at the apical membrane of proximal tubule epithelial cells, in exchange for anionic compounds (PubMed:10660625, PubMed:11907186, PubMed:15037815, PubMed:15102942, PubMed:15291761, PubMed:15576633, PubMed:17229912, PubMed:18501590, PubMed:26277985, PubMed:28027879). May be responsible for placental absorption of fetal-derived steroid sulfates such as estrone sulfate (E1S) and the steroid hormone precursor dehydroepiandrosterone sulfate (DHEA-S), as well as clearing waste products and xenobiotics from the fetus (PubMed:12409283). Maybe also be involved in placental urate homeostasis (PubMed:17229912). Facilitates the renal reabsorption of organic anions such as urate and derived steroid sulfates (PubMed:15037815, PubMed:17229912). Organic anion glutarate acts as conteranion for E1S renal uptake (PubMed:15037815, PubMed:17229912). Possible transport mode may also include DHEA-S/E1S exchange (PubMed:28027879). Also interacts with inorganic anions such as chloride and hydroxyl ions, therefore possible transport modes may include E1S/Cl(-), E1S/OH(-), urate/Cl(-) and urate/OH(-) (PubMed:17229912). Also mediates the transport of prostaglandin E2 (PGE2) and prostaglandin F2-alpha (PGF2-alpha) and may be involved in their renal excretion (PubMed:11907186). Also able to uptake anionic drugs, diuretics, bile salts and ochratoxin A (PubMed:10660625, PubMed:26277985). Mediates the unidirectional efflux of glutamate and aspartate (PubMed:28027879). Glutamate efflux down its transmembrane gradient may drive SLC22A11/OAT4-mediated placental uptake of E1S (PubMed:26277985)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Elucidation of the molecular mechanism for renal tetracycline transport by human organic anion transporters (hOATs) using proximal tubular cells stably expressing hOATs, [RefSeq, PubMed]; Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout. Publication Status: Online-Only, [RefSeq, PubMed]; Our study discovered 3 novel population-specific functional genetic variants (rs6913677, rs2078267, rs8100011) in 2 novel (SLC22A11 and ZNF45) and 1 earlier reported gene (BAI3) for BMI in Indians. Our study decodes key genomic loci underlying obesity phenotype in Indians that may serve as prospective drug targets in future, [RefSeq, PubMed]; Perfluoroalkyl substances (PFASs) are substrates of the renal human organic anion transporter 4 (OAT4)., [RefSeq, PubMed]; The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and is found mainly in the kidney and in the placenta, where it may act to prevent potentially harmful organic anions from reaching the fetus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]., [RefSeq]; The regulation of human organic anion transporter 4 by insulin-like growth factor 1 and protein kinase B signaling., [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": 15, "reported_glycation": 0, "reported_snv": 15, "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": "A8K426;Q53GR2;Q6ZP72;Q8NBU4", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0005452 solute:inorganic anion antiporter activity;GO:0015291 secondary active transmembrane transporter activity;GO:0015132 prostaglandin transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane;GO:0016324 apical plasma membrane;GO:0009925 basal plasma membrane", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0046415 urate metabolic process;GO:0015711 organic anion transport;GO:0015732 prostaglandin transport", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9NSA0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UL12-1", "uniprot_id": "SARDH_HUMAN", "mass": 101037.0, "length": 918, "protein_name": "Sarcosine dehydrogenase, mitochondrial", "gene_name": "SARDH", "organism": "Human", "refseq_name": "sarcosine dehydrogenase, mitochondrial isoform 1 precursor", "refseq_ac": "NP_001128179", "gene_names_uniprotkb": "SARDH; DMGDHL1", "gene_names_refseq": "BPR-2; DMGDHL1; SARDH; SARD; SAR; SDH", "protein_names_uniprotkb": "Sarcosine dehydrogenase, mitochondrial; 1.5.8.3; BPR-2; SarDH", "protein_names_refseq": "dimethylglycine dehydrogenase-like 1; sarcosine dehydrogenase, mitochondrial isoform 1 precursor; sarcosine dehydrogenase, mitochondrial", "tax_id": 9606, "disease": "sarcosinemia (Disease Ontology:DOID:0112307); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:1757); (R-HSA-6798163)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10444331;10686491;10767172;10966938;11231903;11237011;12951056;14429690;16729965;17693683;18691976;19236841;19357133;20207735;22825317;24715725;25837163;26992070;27001897;27486859;28904123;29493099;29508533;29557506;29786170;29789417;30379171;30693981;31154438;31545450;31844290;31848261;32157095;32387766;33124720;33912179;33968037;35051231;35580925;6163778", "class_list": "", "function": "Catalyzes the last step of the oxidative degradation of choline to glycine. Converts sarcosine into glycine., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Data first reported a deleterious c.551C>T mutation in SARDH in sporadic colorectal cancer (sCRC). SARDH was identified as a novel tumor suppressor gene and was abnormally decreased in sCRC at both the transcriptional and the translational level. SARDH overexpression inhibited the proliferation, migration, and invasion of CRC cell lines, whereas its depletion improved these processes., [RefSeq, PubMed]; Expression of sarcosine metabolism-related proteins differed between ILC [invasive lobular carcinoma] and IDC [invasive ductal carcinoma]., [RefSeq, PubMed]; SARDH methylation was found to be a significant prognostic factor for recurrencefree survival in renal cell carcinoma patients showing statistical independence from the clinical prognosticators, grade, stage and state of metastasis., [RefSeq, PubMed]; The SNPs rs2797840 and rs2073817 in SARDH may serve as an indicator for the occurrence of neural tube defects in the Chinese Han population, and rs2797840 may also be an indicator for folate content of brain., [RefSeq, PubMed]; This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "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": "B2RMR5;B4DPI2;B7ZLT6;Q5SYV0;Q9Y280;Q9Y2Y3", "ec_number_list": "1.5.8.3", "go_molecular_function": "GO:0008480 sarcosine dehydrogenase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:1901053 sarcosine catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9UL12-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BSK2-1", "uniprot_id": "S2533_HUMAN", "mass": 35375.0, "length": 321, "protein_name": "Solute carrier family 25 member 33", "gene_name": "SLC25A33", "organism": "Human", "refseq_name": "solute carrier family 25 member 33", "refseq_ac": "NP_115691", "gene_names_uniprotkb": "SLC25A33", "gene_names_refseq": "BMSC-MCP; PNC1; SLC25A33", "protein_names_uniprotkb": "Solute carrier family 25 member 33; BMSC-MCP; Bone marrow stromal cell mitochondrial carrier protein; HuBMSC-MCP; Protein PNC1", "protein_names_refseq": "bone marrow stromal cell mitochondrial carrier protein; huBMSC-MCP; mitochondrial carrier protein; novel mitochondrial carrier protein; solute carrier family 25 (pyrimidine nucleotide carrier), member 33; solute carrier family 25 member 33", "tax_id": 9606, "disease": "familial hyperinsulinemic hypoglycemia 8 (Disease Ontology:DOID:0081328)", "pathway": " (hsa:84275)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "14715278;16949250;17596519;18452278;20453889;20877624;23266187;25320081;25576301;27600516;28832583;30379171;31844290;31848261;32157095;32357974;32938616;33592498;33912179;34087483;34171305;34357683;34509645;35051231;36010968;36241641", "class_list": "", "function": "BMSC-MCP is a phylogenetically conserved and widely expressed mitochondrial carrier protein which perhaps associates with mitochondrial oxidative phosphorylation, [RefSeq, PubMed]; Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria. Selectively transports uridine, thymidine, guanosine, cytosine and inosine (deoxy)nucleoside di- and triphosphates by an antiport mechanism (PubMed:25320081). May import (deoxy)nucleoside triphosphates in exchange for intramitochondrial (deoxy)nucleoside diphosphates, thus providing precursors necessary for de novo synthesis of mitochondrial DNA and RNA while exporting products of their catabolism (PubMed:25320081). Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potential and mitochondrial respiration (PubMed:20453889). Upon INS or IGF1 stimulation regulates cell growth and proliferation by controlling mitochondrial DNA replication and transcription, the ratio of mitochondria-to nuclear-encoded components of the electron transport chain resulting in control of mitochondrial ROS production (PubMed:17596519, PubMed:20453889). Participates in dendritic cell endocytosis and may associate with mitochondrial oxidative phosphorylation (PubMed:14715278)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; PNC1 is essential for mitochondria maintenance., [RefSeq, PubMed]; SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]., [RefSeq]; The main physiological role of SLC25A33 and SLC25A36 is to import/export pyrimidine nucleotides into and from mitochondria, [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": 1, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0015218 pyrimidine nucleotide transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0030307 positive regulation of cell growth;GO:0032869 cellular response to insulin stimulus;GO:0007005 mitochondrion organization;GO:0002082 regulation of oxidative phosphorylation", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9BSK2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UIY3-1", "uniprot_id": "RWD2A_HUMAN", "mass": 33893.0, "length": 292, "protein_name": "RWD domain-containing protein 2A", "gene_name": "RWDD2A", "organism": "Human", "refseq_name": "RWD domain-containing protein 2A isoform b", "refseq_ac": "NP_001309264", "gene_names_uniprotkb": "RWDD2A; RWDD2", "gene_names_refseq": "RWDD2A; RWDD2; dJ747H23.2", "protein_names_uniprotkb": "RWD domain-containing protein 2A", "protein_names_refseq": "RWD domain containing 2; RWD domain-containing protein 2A isoform b; RWD domain-containing protein 2A", "tax_id": 9606, "disease": "", "pathway": " (hsa:112611)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "25892735;26154972;27920218;28228285;28832583;29242379;29508533;29769354;30429286;30484775;30833945;31530632;31844290;31848261;32157095;32502341;32938616;33592498;33717175;33912179;33968037;34932366;35051231;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": 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": "B4DIQ3;E1P548;Q2M3R3;Q96FH1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9UIY3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NIM6-1", "uniprot_id": "S15A5_HUMAN", "mass": 65263.0, "length": 579, "protein_name": "Solute carrier family 15 member 5", "gene_name": "SLC15A5", "organism": "Human", "refseq_name": "solute carrier family 15 member 5", "refseq_ac": "NP_001164269", "gene_names_uniprotkb": "SLC15A5", "gene_names_refseq": "SLC15A5", "protein_names_uniprotkb": "Solute carrier family 15 member 5", "protein_names_refseq": "Peptide/histidine transporter ENSP00000340402; solute carrier family 15 member 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:729025)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "29393594;35051231", "class_list": "", "function": "Proton oligopeptide cotransporter., [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:0022857 transmembrane transporter activity;GO:0015293 symporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0015031 protein transport;GO:0055085 transmembrane transport;GO:0015833 peptide transport", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NIM6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6SPF0-1", "uniprot_id": "SAMD1_HUMAN", "mass": 56052.0, "length": 538, "protein_name": "Sterile alpha motif domain-containing protein 1", "gene_name": "SAMD1", "organism": "Human", "refseq_name": "sterile alpha motif domain-containing protein 1", "refseq_ac": "NP_612361", "gene_names_uniprotkb": "SAMD1", "gene_names_refseq": "SAMD1", "protein_names_uniprotkb": "Sterile alpha motif domain-containing protein 1; Atherin; SAM domain-containing protein 1", "protein_names_refseq": "SAM domain containing 1; atherin; sterile alpha motif domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:90378)", "pathway_count": 1, "publication_count": 98, "publication_id_list": "11237011;15944288;16159594;17081983;18669648;18691976;19007248;19413330;19651622;19664995;19690332;19691289;20068231;22424782;22645359;22706990;23186163;23481700;24275569;24715725;25418920;25576301;26154972;26375851;26811146;26929215;26992070;27452731;27600516;27703004;27846572;27920218;28063628;28218747;28228285;28832583;28834231;28860189;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30379171;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33912179;33936100;33968037;33980486;34006929;34087483;34171305;34211107;34357683;34509645;34561969;35051231;35132862;35318648;35561310;35580925;36241641;36284347;37904675;37938771;40596516", "class_list": "", "function": "Atherin is present only in atherosclerotic lesions, not in normal intima, [RefSeq, PubMed]; SAMD1 attenuates antiphospholipid syndrome-induced pregnancy complications., [RefSeq, PubMed]; The miR-378c-Samd1 circuit promotes phenotypic modulation of vascular smooth muscle cells and foam cells formation in atherosclerosis lesions. Publication Status: Online-Only, [RefSeq, PubMed]; The nuclear importin IPO5 was identified as a novel interacting protein of SMAD1. Overexpression of IPO5 in various cell lines specifically increases nuclear localization of BMP receptor-activated SMADs (R-SMADs) confirming a functional relationship between IPO5 and BMP but not TGF-beta R-SMADs., [RefSeq, PubMed]; Unmethylated CpG islands (CGIs)-binding protein which localizes to H3K4me3-decorated CGIs, where it acts as a transcriptional repressor (PubMed:33980486). Tethers L3MBTL3 to chromatin and interacts with the KDM1A histone demethylase complex to modulate H3K4me2 and H3K4me3 levels at CGIs (PubMed:33980486). Plays a role in atherogenesis by binding with LDL on cell surface and promoting LDL oxidation which leads to the formation of foam cell (PubMed:16159594, PubMed:34006929)., [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": 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": 6, "reported_glycation": 0, "reported_snv": 3, "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": "Q6P0R3;Q6PIS7;Q96IM4", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0030169 low-density lipoprotein particle binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005694 chromosome", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0051260 protein homooligomerization;GO:0006325 chromatin organization;GO:0090077 foam cell differentiation;GO:0034439 lipoprotein lipid oxidation", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q6SPF0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P20132-1", "uniprot_id": "SDHL_HUMAN", "mass": 34625.0, "length": 328, "protein_name": "L-serine dehydratase/L-threonine deaminase", "gene_name": "SDS", "organism": "Human", "refseq_name": "L-serine dehydratase/L-threonine deaminase", "refseq_ac": "NP_006834", "gene_names_uniprotkb": "SDS; SDH", "gene_names_refseq": "SDH; SDS; hSDH", "protein_names_uniprotkb": "L-serine dehydratase/L-threonine deaminase; 4.3.1.17; 4.3.1.19; Hepatic serine dehydratase; L-serine deaminase; L-threonine dehydratase; SDH; TDH; hSDH", "protein_names_refseq": "L-serine ammonia-lyase; L-serine deaminase; L-serine dehydratase/L-threonine deaminase; L-serine dehydratase; L-threonine dehydratase; TDH; hepatic serine dehydratase", "tax_id": 9606, "disease": "", "pathway": " (hsa:10993); (R-HSA-8849175); (R-HSA-977347)", "pathway_count": 3, "publication_count": 43, "publication_id_list": "11054547;11237011;12393813;12633500;14646100;15193426;15536068;15618015;15689518;16120614;16580895;18289528;18342636;19235232;19531498;20106978;20306345;22094463;23112234;23386433;25975565;26416733;26703715;2674117;26992070;27397612;27862975;28005267;29557506;29786170;29789417;30429286;30779550;31154438;31848261;32157095;32983136;33592498;34185709;35051231;35580925;36284347;9188776", "class_list": "", "function": "Catalyzes the pyridoxal-phosphate-dependent dehydrative deamination of L-threonine and L-serine to ammonia and alpha-ketobutyrate and pyruvate, respectively., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; S84A serine racemase mutant behaved like serine dehydratase, whereas A65S serine dehydratase mutant acquired an additional function of using D-serine as a substrate., [RefSeq, PubMed]; SDS expression is significantly upregulated in human masticatory mucosa during wound healing, [RefSeq, PubMed]; This gene encodes one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofactor. The encoded protein can also metabolize threonine to NH4+ and 2-ketobutyrate. The encoded protein is found predominantly 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "A8K9P5", "ec_number_list": "4.3.1.17;4.3.1.19;5.1.1.3;4.3.1.18;5.1.1.18", "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0042803 protein homodimerization activity;GO:0003941 L-serine ammonia-lyase activity;GO:0004794 threonine deaminase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0042866 pyruvate biosynthetic process;GO:0006629 lipid metabolic process;GO:0006094 gluconeogenesis;GO:0006567 L-threonine catabolic process;GO:0006565 L-serine catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "P20132-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IWY4-1", "uniprot_id": "SCUB1_HUMAN", "mass": 107910.0, "length": 988, "protein_name": "Signal peptide, CUB and EGF-like domain-containing protein 1", "gene_name": "SCUBE1", "organism": "Human", "refseq_name": "signal peptide, CUB and EGF-like domain-containing protein 1 precursor", "refseq_ac": "NP_766638", "gene_names_uniprotkb": "SCUBE1", "gene_names_refseq": "SCUBE1", "protein_names_uniprotkb": "Signal peptide, CUB and EGF-like domain-containing protein 1", "protein_names_refseq": "signal peptide, CUB and EGF-like domain-containing protein 1 precursor; signal peptide, CUB and EGF-like domain-containing protein 1; signal peptide, CUB domain, EGF-like 1; signal peptide-CUB domain-EGF-related 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:80274); (R-HSA-1474228)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10.1101/2023.09.13.557529;10229672;10386589;10706100;10809722;10986281;11237011;11375993;11872628;12270931;12727852;12843408;14973287;15234972;15591058;15958533;16133547;1649600;16631740;16753137;16825321;1698775;1707285;17332331;17354228;17608959;18434311;18477386;18658137;18691976;19010778;19571574;19657146;19714641;20142769;21030783;21297635;21441952;21670566;21784848;21864727;22159414;23035980;23845380;30429286;32157095;32983136;33308444;34411563;35051231;36334396;36517978;36748401;37198010;38259670;7075587;7547873;8226919;8626565;9065415;9115292;9148753;9461298;9852107", "class_list": "", "function": "Could SCUBE-1 be a marker for subclinical atherosclerosis other than carotid artery intima-media thickness in patients with psoriasis?, [RefSeq, PubMed]; Could function as an adhesive molecule and its matrix bound and soluble fragments may play a critical role in vascular biology., [UniProtKB, PubMed]; Identification as secreted protein that is expressed in vascular endothelium and may play important roles in development, inflammation, and thrombosis, [RefSeq, PubMed]; Predictive Value of Combined Plasma D-Dimer, SCUBE1, and Right Ventricular Tei Index for the Prognosis of Elderly Patients with Acute Pulmonary Thromboembolism., [RefSeq, PubMed]; SCUBE1 is associated with thrombotic complications, disease severity, and in-hospital mortality in COVID-19 patients., [RefSeq, PubMed]; SCUBE1 promotes pulmonary artery smooth muscle cell proliferation and migration in acute pulmonary embolism by modulating BMP7. Publication Status: Online-Only, [RefSeq, PubMed]; The diagnostic potential of plasma SCUBE-1 concentration for pulmonary embolism: A pilot study., [RefSeq, PubMed]; This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF-like repeats and a CUB domain at the carboxyl terminus. This protein is expressed in platelets and endothelial cells and may play an important role in vascular biology. [provided by RefSeq, Oct 2011]., [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": 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": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 59, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q5R336", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0009897 external side of plasma membrane;GO:0005576 extracellular region", "go_biological_process": "GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007596 blood coagulation;GO:0009791 post-embryonic development;GO:0007512 adult heart development", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q8IWY4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y345-1", "uniprot_id": "SC6A5_HUMAN", "mass": 87434.0, "length": 797, "protein_name": "Sodium- and chloride-dependent glycine transporter 2", "gene_name": "SLC6A5", "organism": "Human", "refseq_name": "sodium- and chloride-dependent glycine transporter 2 isoform 2", "refseq_ac": "NP_001305298", "gene_names_uniprotkb": "SLC6A5; GLYT2; NET1", "gene_names_refseq": "GLYT-2; GLYT2; HKPX3; NET1; SLC6A5", "protein_names_uniprotkb": "Sodium- and chloride-dependent glycine transporter 2; GlyT-2; GlyT2; Solute carrier family 6 member 5", "protein_names_refseq": "norepinephrine transporter 1; sodium- and chloride-dependent glycine transporter 2 isoform 2; sodium- and chloride-dependent glycine transporter 2; solute carrier family 6 (neurotransmitter transporter, glycine), member 5", "tax_id": 9606, "disease": "hyperekplexia 3 (Disease Ontology:DOID:0060698); Duchenne muscular dystrophy (Disease Ontology:DOID:11723)", "pathway": " (hsa:9152); (R-HSA-442660); (R-HSA-5619089)", "pathway_count": 3, "publication_count": 42, "publication_id_list": "10381548;10446133;10606742;10684912;10889531;10973981;11237011;11698620;11897791;12115694;12151341;15286787;15286788;15592994;15632147;16226721;16751771;16884688;16959974;17502375;17726476;18599538;2008212;22753417;2387399;24715725;25480793;29557506;29859229;31370103;32191428;33091337;33450225;35051231;35580925;40725001;7651355;7874447;8125921;8183239;8632143;9845349", "class_list": "", "function": "An overview of hyperekplexia-associated mutations in the neuronal glycine transporter 2 (GlyT2) with special focus on dominant mutations that effect the quaternary structure of GlyT2 (review). Review article, [RefSeq, PubMed]; Analysis of the human SLC6A5 gene mutation associated with hyperekplexia, [RefSeq, PubMed]; Lacks sodium- and chloride-dependent glycine transporter activity., [UniProtKB, PubMed]; Photoswitchable ORG25543 Congener Enables Optical Control of Glycine Transporter 2., [RefSeq, PubMed]; Sodium- and chloride-dependent glycine transporter (PubMed:10381548, PubMed:10606742, PubMed:16751771, PubMed:31370103, PubMed:9845349). Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals (PubMed:9845349). May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses (PubMed:9845349)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The allosteric inhibition of glycine transporter 2 by bioactive lipid analgesics is controlled by penetration into a deep lipid cavity., [RefSeq, PubMed]; This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 46, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O95288;Q4VAM7;Q9BX77", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0015375 glycine:sodium symporter activity", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse;GO:0031045 dense core granule", "go_biological_process": "GO:0060012 synaptic transmission, glycinergic;GO:0007268 chemical synaptic transmission;GO:0035725 sodium ion transmembrane transport;GO:0006836 neurotransmitter transport;GO:1903804 glycine import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9Y345-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95475-1", "uniprot_id": "SIX6_HUMAN", "mass": 27687.0, "length": 246, "protein_name": "Homeobox protein SIX6", "gene_name": "SIX6", "organism": "Human", "refseq_name": "homeobox protein SIX6", "refseq_ac": "NP_031400", "gene_names_uniprotkb": "SIX6; OPTX2; SIX9", "gene_names_refseq": "MCOPCT2; ODRMD; OPTX2; SIX6; Six9", "protein_names_uniprotkb": "Homeobox protein SIX6; Homeodomain protein OPTX2; Optic homeobox 2; Sine oculis homeobox homolog 6", "protein_names_refseq": "homeobox protein SIX6; homeodomain protein OPTX2; optic homeobox 2; sine oculis homeobox homolog 6; sine oculis homeobox protein 6; sine oculis homeobox-like protein 6", "tax_id": 9606, "disease": "optic disc anomalies with retinal and/or macular dystrophy (Disease Ontology:DOID:0080635)", "pathway": " (hsa:4990)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10381575;10512683;15014171;15266624;19690332;23167593;25576301;35017159;35658088;35693420;35790732;36596020", "class_list": "", "function": "Association of Polymorphisms at the SIX1/SIX6 Locus With Normal Tension Glaucoma in a Korean Population., [RefSeq, PubMed]; Association of SIX1-SIX6 polymorphisms with peripapillary retinal nerve fibre layer thickness in children., [RefSeq, PubMed]; Lack of association between SIX1/SIX6 locus polymorphisms and pseudoexfoliation syndrome in a population from the Republic of Korea., [RefSeq, PubMed]; May be involved in eye development., [UniProtKB]; Mutually exclusive epigenetic modification on SIX6 with hypermethylation for precancerous stage and metastasis emergence tracing. Publication Status: Online-Only, [RefSeq, PubMed]; Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [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": 0, "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": "Q6NT42;Q9P1X8", "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: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:0006357 regulation of transcription by RNA polymerase II;GO:0007601 visual perception;GO:0009887 animal organ morphogenesis;GO:0001654 eye development", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "O95475-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35542-1", "uniprot_id": "SAA4_HUMAN", "mass": 14747.0, "length": 130, "protein_name": "Serum amyloid A-4 protein", "gene_name": "SAA4", "organism": "Human", "refseq_name": "serum amyloid A-4 protein precursor", "refseq_ac": "NP_006503", "gene_names_uniprotkb": "SAA4; CSAA", "gene_names_refseq": "C-SAA; CSAA; SAA4", "protein_names_uniprotkb": "Serum amyloid A-4 protein; C-SAA; Constitutively expressed serum amyloid A protein", "protein_names_refseq": "constitutively expressed serum amyloid A protein; serum amyloid A-4 protein precursor; serum amyloid A-4 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:6291)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "1439582;16335952;1740433;19159218;22028381;23090970;24951172;28505104;29557506;29671580;29741879;29786170;31100086;31154438;31844290;32157095;34171305;35051231;36215666;38300370;7686132;8783012", "class_list": "", "function": "After stimulation by various pro-inflammatory conditions, changes in SAA1, SAA2 and SAA4 gene expression at both the transcriptional and protein levels were evaluated during maturation of freshly collected human monocytes into macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; Data identified SAA4 as a protein that was positively correlated with RF and RA. SAA4 may represent a novel prescreening marker for the diagnosis of RA. Publication Status: Online-Only, [RefSeq, PubMed]; Expressed in invasive trophoblast cells, [RefSeq, PubMed]; Low SAA4 gene expression is associated with advanced HCC stage and a poor prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; Major acute phase reactant., [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": 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": 7, "reported_interactions": 0, "missing_score": 8796, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6FHJ4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0034364 high-density lipoprotein particle;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006953 acute-phase response", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "P35542-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P46059-1", "uniprot_id": "S15A1_HUMAN", "mass": 78806.0, "length": 708, "protein_name": "Solute carrier family 15 member 1", "gene_name": "SLC15A1", "organism": "Human", "refseq_name": "solute carrier family 15 member 1", "refseq_ac": "NP_005064", "gene_names_uniprotkb": "SLC15A1; PEPT1", "gene_names_refseq": "HPECT1; HPEPT1; PEPT1; SLC15A1", "protein_names_uniprotkb": "Solute carrier family 15 member 1; Intestinal H(+)/peptide cotransporter; Oligopeptide transporter, small intestine isoform; Peptide transporter 1", "protein_names_refseq": "Caco-2 oligopeptide transporter; intestinal H+/peptide cotransporter; macrophage oligopeptide transporter PEPT1; peptide transporter 1; solute carrier family 15 (oligopeptide transporter), member 1; solute carrier family 15 member 1", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:6564); (R-HSA-427975)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "11741232;12436193;15521010;16258023;18367661;19685173;24715725;26320580;27862975;28408210;31154438;32502341;33952823;34031358;34569600;34637915;35051231;35546503;36284347;39894887;7896779;8914574;9299407;9835627", "class_list": "", "function": "Electrogenic proton-coupled amino-acid transporter that transports oligopeptides of 2 to 4 amino acids with a preference for dipeptides. Transports neutral and monovalently charged peptides with a proton to peptide stoichiometry of 1:1 or 2:1 (By similarity) (PubMed:15521010, PubMed:18367661, PubMed:19685173, PubMed:26320580, PubMed:7896779, PubMed:8914574, PubMed:9835627). Primarily responsible for the absorption of dietary di- and tripeptides from the small intestinal lumen (By similarity). Mediates transepithelial transport of muramyl and N-formylated bacterial dipeptides contributing to recognition of pathogenic bacteria by the mucosal immune system (PubMed:15521010, PubMed:9835627)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Epigenetic regulation of intestinal peptide transporter PEPT1 as a potential strategy for colorectal cancer sensitization. Publication Status: Online-Only, [RefSeq, PubMed]; Expression, Regulation, and Role of an Oligopeptide Transporter: PEPT1 in Tumors., [RefSeq, PubMed]; Expression, purification and characterization of human proton-coupled oligopeptide transporter 1 hPEPT1., [RefSeq, PubMed]; PEPT1 is essential for the growth of pancreatic cancer cells: a viable drug target., [RefSeq, PubMed]; Protonation State of a Histidine Residue in Human Oligopeptide Transporter 1 (hPEPT1) Regulates hPEPT1-Mediated Efflux Activity., [RefSeq, PubMed]; This gene encodes an intestinal hydrogen peptide cotransporter that is a member of the solute carrier family 15. The encoded protein is localized to the brush border membrane of the intestinal epithelium and mediates the uptake of di- and tripeptides from the lumen into the enterocytes. This protein plays an important role in the uptake and digestion of dietary proteins. This protein also facilitates the absorption of numerous peptidomimetic drugs. [provided by RefSeq, Apr 2010]., [RefSeq]", "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": 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": 9, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q5VW82", "ec_number_list": "", "go_molecular_function": "GO:0005427 proton-dependent oligopeptide secondary active transmembrane transporter activity;GO:0015333 peptide:proton symporter activity;GO:0042937 tripeptide transmembrane transporter activity;GO:0071916 dipeptide transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005903 brush border;GO:0016020 membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0015031 protein transport;GO:0035672 oligopeptide transmembrane transport;GO:0140206 dipeptide import across plasma membrane;GO:0140207 tripeptide import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "P46059-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5H9E4-1", "uniprot_id": "S2553_HUMAN", "mass": 34481.0, "length": 307, "protein_name": "Solute carrier family 25 member 53", "gene_name": "SLC25A53", "organism": "Human", "refseq_name": "solute carrier family 25 member 53", "refseq_ac": "NP_001012773", "gene_names_uniprotkb": "SLC25A53; MCART6", "gene_names_refseq": "MCART6; SLC25A53", "protein_names_uniprotkb": "Solute carrier family 25 member 53; Mitochondrial carrier triple repeat protein 6", "protein_names_refseq": "mitochondrial carrier triple repeat protein 6; solute carrier family 25 member 53", "tax_id": 9606, "disease": "", "pathway": " (hsa:401612)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "23266187;23481700;24715725;25892735;26992070;28063628;28218747;28228285;28832583;28834231;29437277;29632046;30410026;30620550;31844290;32265295;34561969", "class_list": "", "function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. 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": 0, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RTT9", "ec_number_list": "", "go_molecular_function": "GO:0051724 NAD transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q5H9E4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VU36-1", "uniprot_id": "S31A5_HUMAN", "mass": 148687.0, "length": 1347, "protein_name": "Spermatogenesis-associated protein 31A5", "gene_name": "SPATA31A5", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 31A5", "refseq_ac": "NP_001107013", "gene_names_uniprotkb": "SPATA31A5; FAM75A5", "gene_names_refseq": "FAM75A5; SPATA31A5", "protein_names_uniprotkb": "Spermatogenesis-associated protein 31A5; Protein FAM75A5", "protein_names_refseq": "family with sequence similarity 75, member A5; protein FAM75A5; spermatogenesis-associated protein 31A5", "tax_id": 9606, "disease": "", "pathway": " (hsa:727905)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "May play a role 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": 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": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5VU36-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VVP1-1", "uniprot_id": "S31A6_HUMAN", "mass": 147818.0, "length": 1343, "protein_name": "Spermatogenesis-associated protein 31A6", "gene_name": "SPATA31A6", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 31A6", "refseq_ac": "NP_001138668", "gene_names_uniprotkb": "SPATA31A6; FAM75A6", "gene_names_refseq": "FAM75A6; SPATA31A6", "protein_names_uniprotkb": "Spermatogenesis-associated protein 31A6; Protein FAM75A6", "protein_names_refseq": "family with sequence similarity 75, member A6; spermatogenesis-associated protein 31A6", "tax_id": 9606, "disease": "", "pathway": " (hsa:389730)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "30620550;35051231", "class_list": "", "function": "May play a role 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": 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:0016020 membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q5VVP1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VYP0-1", "uniprot_id": "S31A3_HUMAN", "mass": 148706.0, "length": 1347, "protein_name": "Spermatogenesis-associated protein 31A3", "gene_name": "SPATA31A3", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 31A3", "refseq_ac": "NP_001076593", "gene_names_uniprotkb": "SPATA31A3; FAM75A3", "gene_names_refseq": "FAM75A3; SPATA31A3", "protein_names_uniprotkb": "Spermatogenesis-associated protein 31A3; Protein FAM75A3", "protein_names_refseq": "family with sequence similarity 75, member A3; protein FAM75A3; spermatogenesis-associated protein 31A3", "tax_id": 9606, "disease": "", "pathway": " (hsa:727830)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "31033124;31217245", "class_list": "", "function": "May play a role in spermatogenesis., [UniProtKB]; Novel biomarkers for primary biliary cholangitis to improve diagnosis and understand underlying regulatory mechanisms., [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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q5VYP0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6KCM7-1", "uniprot_id": "SCMC2_HUMAN", "mass": 52663.0, "length": 469, "protein_name": "Mitochondrial adenyl nucleotide antiporter SLC25A25", "gene_name": "SLC25A25", "organism": "Human", "refseq_name": "mitochondrial adenyl nucleotide antiporter SLC25A25 isoform b", "refseq_ac": "NP_001006642", "gene_names_uniprotkb": "SLC25A25; APC3; KIAA1896; MCSC3; PRO1106; SCAMC2", "gene_names_refseq": "MCSC; PCSCL; SCAMC-2; SCAMC2; SLC25A25", "protein_names_uniprotkb": "Mitochondrial adenyl nucleotide antiporter SLC25A25; Mitochondrial ATP-Mg/Pi carrier protein 3; Mitochondrial Ca(2+)-dependent solute carrier protein 3; SCaMC-2; Short calcium-binding mitochondrial carrier protein 2; Solute carrier family 25 member 25", "protein_names_refseq": "calcium-binding mitochondrial carrier protein SCaMC-2; mitochondrial ATP-Mg/Pi carrier protein 3; mitochondrial Ca(2+)-dependent solute carrier protein 3; mitochondrial adenyl nucleotide antiporter SLC25A25 isoform b; mitochondrial adenyl nucleotide antiporter SLC25A25; phosphate carrier), member 25; short calcium-binding mitochondrial carrier 2; short calcium-binding mitochondrial carrier protein 2; small calcium-binding mitochondrial carrier 2; solute carrier family 25 (mitochondrial carrier", "tax_id": 9606, "disease": "", "pathway": " (hsa:114789)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;12645546;12975309;15054102;15123600;20583170;20877624;23266187;25645385;26154972;26992070;27452731;27846572;27920218;28514659;28834231;28904123;29242379;29393594;30076902;30080851;30429286;31844290;31848261;32157095;32161166;32938616;32983136;33912179;33981976;34087483;34346195;35051231;35580925", "class_list": "", "function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Electroneutral antiporter that most probably mediates the transport of adenyl nucleotides through the inner mitochondrial membrane (By similarity). Has calcium-dependent ATP-magnesium/inorganic phosphate antiporter activity (PubMed:30080851, PubMed:34346195). Could also have a broader specificity for adenyl nucleotides (By similarity). By regulating the mitochondrial matrix adenyl nucleotide pool, could adapt to changing cellular energetic demands and indirectly regulate adenyl nucleotide-dependent metabolic pathways (By similarity). Acts downstream of Ca(2+)-permeable cation channel PKD2/TRPP2 and it is likely that PKD2-mediated Ca(2+) signaling activates SLC25A25 antiporter activity (By similarity). Required for left-right pattern specification (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB]; Exome sequencing identifies a disease variant of the mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones., [RefSeq, PubMed]; FOXD3 acts as a repressor of the mitochondrial S-adenosylmethionine carrier (SLC25A26) gene expression in cancer cells., [RefSeq, PubMed]; Identification of three isoforms of the mitochondrial ATP-Mg/Pi carrier APC1, APC2 and APC3; they are most likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria [APC3], [RefSeq, PubMed]; May play an important role in regulating the function of hepatocytes rather than in differentiation in vivo, [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]; SCaMC-2, has four variants generated by alternative splicing, resulting in proteins with a common C terminus but with variations in their N-terminal halves, including the loss of one to three EF-hand motifs, [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of calcium-binding mitochondrial carriers, with a characteristic mitochondrial carrier domain at the C-terminus. These proteins are found in the inner membranes of mitochondria, and function as transport proteins. They shuttle metabolites, nucleotides and cofactors through the mitochondrial membrane and thereby connect and/or regulate cytoplasm and matrix functions. This protein may function as an ATP-Mg/Pi carrier that mediates the transport of Mg-ATP in exchange for phosphate, and likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria. Alternatively spliced transcript variants encoding different isoforms with a common C-terminus but variable N-termini have been described 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q5SYW7;Q5SYW8;Q5SYX3;Q5VWU2;Q5VWU3;Q5VWU4;Q6KCM4;Q6KCM6;Q6UX48;Q705K2;Q96PZ1;Q9BSA6", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0005509 calcium ion binding;GO:0005347 ATP transmembrane transporter activity;GO:0140987 ATP:phosphate antiporter activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane", "go_biological_process": "GO:0015866 ADP transport;GO:0015867 ATP transport;GO:0055085 transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q6KCM7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IWB4-1", "uniprot_id": "S31A7_HUMAN", "mass": 148734.0, "length": 1347, "protein_name": "Spermatogenesis-associated protein 31A7", "gene_name": "SPATA31A7", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 31A7", "refseq_ac": "NP_056482", "gene_names_uniprotkb": "SPATA31A7; FAM75A4; FAM75A7; SPATA31A4", "gene_names_refseq": "AEP1; C9orf36A; C9orf36; FAM75A4; FAM75A7; SPATA31A4; SPATA31A7", "protein_names_uniprotkb": "Spermatogenesis-associated protein 31A7; Protein FAM75A7", "protein_names_refseq": "SPATA31 subfamily A, member 4; family with sequence similarity 75, member A4; family with sequence similarity 75, member A7; protein FAM75A4; protein FAM75A7; spermatogenesis-associated protein 31A4; spermatogenesis-associated protein 31A7", "tax_id": 9606, "disease": "", "pathway": " (hsa:26165)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "16924657;20850414;29557506;32938616;33298915;34509645;35494241", "class_list": "", "function": "May play a role in spermatogenesis., [UniProtKB]; Results suggest that AEP1 is an evolutionary-conserved acrosome-specific gene and likely functions in acrosome-cap formation [AEP1]., [RefSeq, PubMed]; VAD1.3 interacts with beta-actin and syntaxin 1 in vitro., [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": 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": "Q4VX67;Q5TZK4;Q9Y4Q5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8IWB4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WU76-1", "uniprot_id": "SCFD2_HUMAN", "mass": 75127.0, "length": 684, "protein_name": "Sec1 family domain-containing protein 2", "gene_name": "SCFD2", "organism": "Human", "refseq_name": "sec1 family domain-containing protein 2", "refseq_ac": "NP_689753", "gene_names_uniprotkb": "SCFD2; STXBP1L1", "gene_names_refseq": "SCFD2; STXBP1L1", "protein_names_uniprotkb": "Sec1 family domain-containing protein 2; Syntaxin-binding protein 1-like 1", "protein_names_refseq": "sec1 family domain-containing protein 2; syntaxin binding protein 1-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:152579)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "11237011;18669648;22645359;23481700;24366607;24715725;25418920;25576301;25880248;26154972;26375851;26929215;26992070;27600516;27846572;27862975;27893789;27920218;28218747;28228285;28832583;28904123;29242379;29393594;29493099;29508533;29557506;30315122;30410026;31217245;31844290;32157095;32213542;32357974;32387766;32502341;32938616;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34211107;34509645;34561969;34932366;35051231;35681031;36010968;36241641", "class_list": "", "function": "May be involved in protein transport., [UniProtKB]; PSF Promotes ER-Positive Breast Cancer Progression via Posttranscriptional Regulation of ESR1 and SCFD2., [RefSeq, PubMed]; PSPC1 is a potential prognostic marker for hormone-dependent breast cancer patients and modulates RNA processing of ESR1 and SCFD2. 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": 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": "Q8N5F3;Q8N8H0;Q96ED3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q8WU76-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96S37-1", "uniprot_id": "S22AC_HUMAN", "mass": 59630.0, "length": 553, "protein_name": "Solute carrier family 22 member 12", "gene_name": "SLC22A12", "organism": "Human", "refseq_name": "solute carrier family 22 member 12 isoform c", "refseq_ac": "NP_001263255", "gene_names_uniprotkb": "SLC22A12; OATL4; PRO34004; URAT1", "gene_names_refseq": "OAT4L; RST; SLC22A12; UAT; URAT1; hURAT1", "protein_names_uniprotkb": "Solute carrier family 22 member 12; Organic anion transporter 4-like protein; RST; Renal-specific transporter; URAT1; Urate anion exchanger 1; Urate:anion antiporter SLC22A12", "protein_names_refseq": "organic anion transporter 4-like protein; renal-specific transporter; solute carrier family 22 (organic anion/cation transporter), member 12; solute carrier family 22 (organic anion/urate transporter), member 12; solute carrier family 22 member 12 isoform c; urate anion exchanger 1; urate anion transporter 1; urate transporter 1; urate:anion antiporter SLC22A12", "tax_id": 9606, "disease": "diabetes mellitus (Disease Ontology:DOID:9351); hypouricemia, renal 1 (MONDO:MONDO:0020728)", "pathway": " (hsa:116085); (R-HSA-561048); (R-HSA-5619071)", "pathway_count": 3, "publication_count": 39, "publication_id_list": "10049739;10660625;11327718;12024214;12975309;14531806;14586168;14694169;15037815;15304510;15327384;15634722;15901346;15912381;16385546;16837472;18492088;21350910;22194875;24715725;26377792;26418379;28228285;30315176;31844290;32387766;34631016;35144162;35462902;35580925;36010968;37176161;37217939;37761963;38253038;39146184;9762842;9887087;9950961", "class_list": "", "function": "Electroneutral antiporter that translocates urate across the apical membrane of proximal tubular cells in exchange for monovalent organic or inorganic anions (PubMed:12024214, PubMed:22194875, PubMed:35144162, PubMed:35462902). Involved in renal reabsorption of urate and helps maintaining blood levels of uric acid (PubMed:12024214, PubMed:22194875). Mediates urate uptake by an exchange with organic anions such as (S)-lactate and nicotinate, and inorganic anion Cl(-) (PubMed:12024214). Other inorganic anions such as Br(-), I(-) and NO3(-) may also act as counteranions that exchange for urate (PubMed:12024214). Also mediates orotate tubular uptake coupled with nicotinate efflux and to a lesser extent with lactate efflux, therefore displaying a potential role in orotate renal reabsorption (PubMed:21350910). Orotate transport is Cl(-)-dependent (PubMed:21350910)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Molecular identification of a renal urate anion exchanger that regulates blood urate levels, [RefSeq, PubMed]; New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions. Publication Status: Online-Only, [RefSeq, PubMed]; PDZK1 plays a role in regulating the functional activity of URAT1-mediated urate transport in the apical membrane of renal proximal tubules., [RefSeq, PubMed]; Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M). Publication Status: Online-Only, [RefSeq, PubMed]; Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults. Publication Status: Online-Only, [RefSeq, PubMed]; SLC22A12 is a major gene for hypouricemia but not hyperuricemia in Japanese. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Structural basis for the transport and substrate selection of human urate transporter 1., [RefSeq, PubMed]; The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]., [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": 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": 19, "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": "B7WPG1;G3XAN7;Q19PF7;Q19PF8;Q19PF9;Q19PG0;Q6UXW3;Q96DT2", "ec_number_list": "", "go_molecular_function": "GO:0030165 PDZ domain binding;GO:0015143 urate transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane;GO:0031526 brush border membrane", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0019725 cellular homeostasis;GO:0032869 cellular response to insulin stimulus;GO:0046415 urate metabolic process;GO:0015711 organic anion transport", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q96S37-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYT1-1", "uniprot_id": "S17A9_HUMAN", "mass": 47482.0, "length": 436, "protein_name": "Voltage-gated purine nucleotide uniporter SLC17A9", "gene_name": "SLC17A9", "organism": "Human", "refseq_name": "voltage-gated purine nucleotide uniporter SLC17A9 isoform 2", "refseq_ac": "NP_001289572", "gene_names_uniprotkb": "SLC17A9; C20orf59", "gene_names_refseq": "C20orf59; POROK8; SLC17A9; VNUT", "protein_names_uniprotkb": "Voltage-gated purine nucleotide uniporter SLC17A9; Solute carrier family 17 member 9; VNUT; Vesicular nucleotide transporter", "protein_names_refseq": "solute carrier family 17 (vesicular nucleotide transporter), member 9; vesicular nucleotide transporter SLC17A9; voltage-gated purine nucleotide uniporter SLC17A9 isoform 2; voltage-gated purine nucleotide uniporter SLC17A9", "tax_id": 9606, "disease": "porokeratosis (Disease Ontology:DOID:3805); porokeratosis 8, disseminated superficial actinic type (MONDO:MONDO:0014479)", "pathway": " (hsa:63910)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "11237011;18375752;20382737;21613220;22645359;23467297;23481700;24292772;24714562;24715725;25180256;25880248;26024233;26375851;26992070;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29557506;30315122;30524438;31154438;31217245;31844290;32157095;32357974;32387766;32502341;32897882;32983136;33141586;33298915;33633747;33691108;33790119;33912179;33968037;34357683;34509645;34932366;35051231;35266813;35269509;36241641;36284347;38058092;38844969", "class_list": "", "function": "Analysis of involvement of SLC17A9-dependent vesicular exocytosis in the mechanism of ATP release during T cell activation, [RefSeq, PubMed]; It is suggested that the functions of VNUT, in addition to P2 receptors may be a target for anti-inflammatory response in skin., [RefSeq, PubMed]; LINC01836 Promotes Colorectal Cancer Progression and Functions as ceRNA to Target SLC17A9 by Sponging miR-1226-3p., [RefSeq, PubMed]; SLC17A9 protein acts as a vesicular nucleotide transporter (VNUT) and plays an essential role in vesicular storage of ATP in the ATP-secreting cells [SLC17A9], [RefSeq, PubMed]; Single-nucleotide polymorphisms of the SLC17A9 and P2RY12 genes are significantly associated with phantom tooth pain., [RefSeq, PubMed]; The HHEX-ABI2/SLC17A9 axis induces cancer stem cell-like properties and tumorigenesis in HCC. Publication Status: Online-Only, [RefSeq, PubMed]; The existence of an SLC17A9-dependent ATP-enriched vesicular pool in biliary epithelium that undergoes regulated exocytosis to initiate purinergic signaling., [RefSeq, PubMed]; These results suggest that SLC17A9 is the relevant nucleotide transporter responsible for the uptake of cytosolic nucleotides into mucin granules. Erratum:[Am J Physiol Cell Physiol. 2014 Feb 15;306(4):C415], [RefSeq, PubMed]; This gene encodes a member of a family of transmembrane proteins that are involved in the transport of small molecules. The encoded protein participates in the vesicular uptake, storage, and secretion of adenoside triphosphate (ATP) and other nucleotides. A mutation in this gene was found in individuals with autosomal dominant disseminated superficial actinic porokeratosis-8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]., [RefSeq]; Voltage-gated ATP nucleotide uniporter that can also transport the purine nucleotides ADP and GTP. Uses the membrane potential as the driving force to control ATP accumulation in lysosomes and secretory vesicles (PubMed:18375752, PubMed:23467297). By controlling ATP storage in lysosomes, regulates ATP-dependent proteins of these organelles (PubMed:35269509). Also indirectly regulates the exocytosis of ATP through its import into lysosomes in astrocytes and secretory vesicles such as adrenal chromaffin granules, mucin granules and synaptic vesicles (PubMed:18375752, PubMed:23467297)., [UniProtKB, PubMed, PubMed, PubMed]; [VNUT Is a Therapeutic Target for Type 2 Diabetes and NASH]. Review article, [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": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KTF2;Q5W198;Q8TB07;Q8TBP4;Q8TEL5;Q9BYT0;Q9BYT2", "ec_number_list": "", "go_molecular_function": "GO:0005347 ATP transmembrane transporter activity;GO:0015217 ADP transmembrane transporter activity;GO:0001409 guanine nucleotide transmembrane transporter activity;GO:0160042 purine nucleotide uniporter activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005765 lysosomal membrane;GO:0030658 transport vesicle membrane;GO:0042584 chromaffin granule membrane;GO:0098594 mucin granule;GO:0012505 endomembrane system", "go_biological_process": "GO:0015866 ADP transport;GO:1903790 guanine nucleotide transmembrane transport;GO:0015867 ATP transport;GO:1904669 ATP export;GO:0141013 purine nucleotide import into lysosome", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9BYT1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H1U9-1", "uniprot_id": "S2551_HUMAN", "mass": 33672.0, "length": 297, "protein_name": "Mitochondrial nicotinamide adenine dinucleotide transporter SLC25A51", "gene_name": "SLC25A51", "organism": "Human", "refseq_name": "mitochondrial nicotinamide adenine dinucleotide transporter SLC25A51", "refseq_ac": "NP_219480", "gene_names_uniprotkb": "SLC25A51; MCART1", "gene_names_refseq": "CG7943; MCART1; SLC25A51", "protein_names_uniprotkb": "Mitochondrial nicotinamide adenine dinucleotide transporter SLC25A51; Mitochondrial NAD(+) transporter SLC25A51; Mitochondrial carrier triple repeat protein 1; Solute carrier family 25 member 51", "protein_names_refseq": "mitochondrial NAD(+) transporter SLC25A51; mitochondrial NAD+ transporter; mitochondrial carrier triple repeat 1; mitochondrial carrier triple repeat protein 1; mitochondrial nicotinamide adenine dinucleotide transporter SLC25A51", "tax_id": 9606, "disease": "", "pathway": " (hsa:92014); (R-HSA-196807)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "10331643;10613898;11248244;11594753;11788603;11866528;11991719;12359228;12547821;12574164;12790796;13563527;14516279;14966140;15090606;15137942;15381699;15674325;16118205;1637327;16690024;16959974;17402747;17604275;17641676;17868694;17914902;18411268;19531469;19664994;20388704;20877624;2129526;21504897;21699903;21933152;21994945;22701565;22822066;23212377;23230272;23266187;24717514;24847004;25531177;25576301;28218747;28228285;28834231;29437277;30315122;30410026;31844290;32906142;33087354;33262325;33936100;35580925;36284347;37419986;37575034;37587695;38108469;38354740;4349867;8182091;8289818;8527488;8575745;8809081;9473669", "class_list": "", "function": "Absence of mitochondrial SLC25A51 enhances PARP1-dependent DNA repair by increasing nuclear NAD+ levels., [RefSeq, PubMed]; Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Dynamics of SLC25A51 reveal preference for oxidized NAD[+] and substrate led transport., [RefSeq, PubMed]; Epistasis-driven identification of SLC25A51 as a regulator of human mitochondrial NAD import. Publication Status: Online-Only, [RefSeq, PubMed]; Layered mechanisms regulating the human mitochondrial NAD+ transporter SLC25A51. Review article, [RefSeq, PubMed]; Mitochondrial membrane carrier protein that mediates the import of NAD(+) into mitochondria (PubMed:32906142, PubMed:33087354, PubMed:33262325). Mitochondrial NAD(+) is required for glycolysis and mitochondrial respiration (PubMed:32906142, PubMed:33087354, PubMed:33262325). Compared to SLC25A52, SLC25A51-mediated transport is essential for the import of NAD(+) in mitochondria (PubMed:32906142). The transport mechanism, uniport or antiport, its electrogenicity and substrate selectivity, remain to be elucidated., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; SLC25A51 decouples the mitochondrial NAD[+]/NADH ratio to control proliferation of AML cells., [RefSeq, PubMed]; SLC25A51 is a mammalian mitochondrial NAD(+) transporter., [RefSeq, PubMed]; SLC25A51 promotes tumor growth through sustaining mitochondria acetylation homeostasis and proline biogenesis., [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": 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:0051724 NAD transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0019646 aerobic electron transport chain;GO:1990549 mitochondrial NAD transmembrane transport;GO:1901847 nicotinate metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q9H1U9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NSC2-1", "uniprot_id": "SALL1_HUMAN", "mass": 140405.0, "length": 1324, "protein_name": "Sal-like protein 1", "gene_name": "SALL1", "organism": "Human", "refseq_name": "sal-like protein 1 isoform b", "refseq_ac": "NP_001121364", "gene_names_uniprotkb": "SALL1; SAL1; ZNF794", "gene_names_refseq": "HEL-S-89; HSAL1; SALL1; Sal-1; TBS; ZNF794", "protein_names_uniprotkb": "Sal-like protein 1; HSal1; Sal-1; Spalt-like transcription factor 1; Zinc finger protein 794; Zinc finger protein SALL1; Zinc finger protein Spalt-1", "protein_names_refseq": "epididymis secretory protein Li 89; sal-like protein 1 isoform b; sal-like protein 1; zinc finger protein 794; zinc finger protein SALL1; zinc finger protein Spalt-1", "tax_id": 9606, "disease": "Townes-Brocks syndrome (Disease Ontology:DOID:0050887); middle lobe syndrome (Disease Ontology:DOID:2810); carcinoma (Disease Ontology:DOID:305); renal Wilms' tumor (Disease Ontology:DOID:5176); hepatoblastoma (Disease Ontology:DOID:687); chronic kidney disease (Disease Ontology:DOID:784)", "pathway": " (hsa:6299); (R-HSA-2892247); (R-HSA-9830674)", "pathway_count": 3, "publication_count": 78, "publication_id_list": "10209961;10533063;10928856;11237011;11751684;11855863;12065233;14681828;15277698;15342941;15955829;16153702;16397896;16545361;16670092;16846370;16862074;16954206;16978057;17068183;1715580;17204602;17267691;17506876;17567999;17572666;18212089;18297069;18366076;18388306;18653770;19128516;19440552;19531498;19544431;19696931;19829295;20505756;20505821;20526341;20549704;20616345;20624125;20872845;21049019;21406692;22215994;22887036;24218367;24275569;25576301;25645385;25755297;29393594;29557506;29625565;30379171;31154438;31844290;31848261;32387766;32938616;33098486;33592498;34257535;35051231;35138101;36010968;36252910;36833185;38915054;7545930;7688835;8975705;9354794;9425907;9807024;9973281", "class_list": "", "function": "A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Hsa_circ_0043265 Restrains Cell Proliferation, Migration and Invasion of Tongue Squamous Cell Carcinoma via Targeting the miR-1243/SALL1 Axis. Publication Status: Online-Only, [RefSeq, PubMed]; SOX2/SALL4 stemness axis modulates Notch signaling genes to maintain self-renewal capacity of esophageal squamous cell carcinoma., [RefSeq, PubMed]; The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Townes-Brocks syndrome with craniosynostosis in two siblings., [RefSeq, PubMed]; Transcriptional repressor involved in organogenesis. Plays an essential role in ureteric bud invasion during kidney development., [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": 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": 86, "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": "Q99881;Q9NSC3;Q9P1R0", "ec_number_list": "", "go_molecular_function": "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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000792 heterochromatin;GO:0010369 chromocenter", "go_biological_process": "GO:0061034 olfactory bulb mitral cell layer development;GO:0021553 olfactory nerve development;GO:0072092 ureteric bud invasion;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9NSC2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NTN3-1", "uniprot_id": "S35D1_HUMAN", "mass": 39240.0, "length": 355, "protein_name": "Nucleotide sugar transporter SLC35D1", "gene_name": "SLC35D1", "organism": "Human", "refseq_name": "nucleotide sugar transporter SLC35D1", "refseq_ac": "NP_055954", "gene_names_uniprotkb": "SLC35D1; KIAA0260; UGTREL7", "gene_names_refseq": "SHNKND; SLC35D1; UGTREL7", "protein_names_uniprotkb": "Nucleotide sugar transporter SLC35D1; Solute carrier family 35 member D1; UDP-GlcA/UDP-GalNAc transporter; UDP-galactose transporter-related protein 7; UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter; UGTrel7", "protein_names_refseq": "UDP-GlcA/UDP-GalNAc transporter; UDP-galactose transporter-related 7; UDP-galactose transporter-related protein 7; UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter; nucleotide sugar transporter SLC35D1; solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1; solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1", "tax_id": 9606, "disease": "schneckenbecken dysplasia (Disease Ontology:DOID:0050775); depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:23169); (R-HSA-173599); (R-HSA-5579020); (R-HSA-727802)", "pathway_count": 4, "publication_count": 35, "publication_id_list": "10393322;11322953;11784306;15044486;15082721;15607426;15911612;16965264;17599910;17952091;19508970;23481700;24715725;25576301;25892735;27712858;28218747;29437277;29557506;29632046;29769354;29786170;29789417;31423530;31844290;31848261;31998317;32897882;32938616;33691108;34357683;35051231;35580925;35934917;8889805", "class_list": "glycogene", "function": "A novel SLC35D1 variant causing milder phenotype of Schneckenbecken dysplasia in a large pedigree., [RefSeq, PubMed]; Antiporter that transports nucleotide sugars across the endoplasmic reticulum (ER) membrane in exchange for either their cognate nucleoside monophosphate or another nucleotide sugar (PubMed:16965264, PubMed:17599910, PubMed:31423530). Transports various UDP-sugars including UDP-N-acetyl-alpha-D-glucosamine (UDP-GlcNAc), UDP-N-acetyl-alpha-D-galactosamine (UDP-GalNAc) and UDP-alpha-D-glucuronate (UDP-GlcA), which are used by ER glucosyltransferases as sugar donors for the synthesis of sugar chains of glycoproteins, glycolipids and oligosaccharides (PubMed:11322953, PubMed:16965264, PubMed:17599910, PubMed:17952091, PubMed:31423530). May couple UDP-GlcNAc or UDP-GalNAc efflux to UDP-GlcA influx into the ER lumen that in turn stimulates glucuronidation and subsequent excretion of endobiotics and xenobiotics (PubMed:16965264, PubMed:17599910). Plays a role in chondroitin sulfate biosynthesis, which is important for formation of cartilage extracellular matrix and normal skeletal development (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009]., [RefSeq]; Loss of function mutations cause Schneckenbecken dysplasia, a severe skeletal dysplasia., [RefSeq, PubMed]; Searched for SLC35D1 mutations, identified four novel mutations in three Schneckenbecken dysplasia families. All mutations result in loss of function. No SLC35D1 mutations were id'd in all patients with other spondylodysplastic dysplasias group diseases., [RefSeq, PubMed]; There is a positive association between the GWAS reported rs3762318 and leprosy, and SLC35D1 and IL23R might be the causal 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": 423, "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": "A8K185;B7Z3X2;Q52LU5;Q92548", "ec_number_list": "", "go_molecular_function": "GO:0015297 antiporter activity;GO:0005461 UDP-glucuronate transmembrane transporter activity;GO:0005462 UDP-N-acetylglucosamine transmembrane transporter activity;GO:0005463 UDP-N-acetylgalactosamine transmembrane transporter activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0090481 pyrimidine nucleotide-sugar transmembrane transport;GO:0015780 nucleotide-sugar transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9NTN3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UHA2-1", "uniprot_id": "S18L2_HUMAN", "mass": 8835.0, "length": 77, "protein_name": "SS18-like protein 2", "gene_name": "SS18L2", "organism": "Human", "refseq_name": "SS18-like protein 2", "refseq_ac": "NP_057389", "gene_names_uniprotkb": "SS18L2", "gene_names_refseq": "KIAA-iso; SS18L2", "protein_names_uniprotkb": "SS18-like protein 2; SYT homolog 2", "protein_names_refseq": "SS18-like protein 2; SYT homolog 2; synovial sarcoma translocation gene on chromosome 18-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:51188)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "22424782;23481700;24366607;24714562;24715725;25576301;26154972;26728094;26992070;27920218;28228285;28832583;28834231;29242379;29331515;29493099;29508533;29557506;30429286;30524438;31154438;31530632;31844290;31848261;32157095;32357974;32387766;32897882;32938616;32983136;33592498;33717175;33912179;33936100;33968037;34211107;34405274;34509645;34561969;35051231;35580925", "class_list": "", "function": "Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L2 gene is homologous to SS18.[supplied by OMIM, Jul 2002]., [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": "B2R5L1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9UHA2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2W3-1", "uniprot_id": "S45A1_HUMAN", "mass": 80843.0, "length": 748, "protein_name": "Proton-associated sugar transporter A", "gene_name": "SLC45A1", "organism": "Human", "refseq_name": "proton-associated sugar transporter A isoform 2", "refseq_ac": "NP_001073866", "gene_names_uniprotkb": "SLC45A1; DNB5", "gene_names_refseq": "DNB5; IDDNPF; PAST-A; SLC45A1", "protein_names_uniprotkb": "Proton-associated sugar transporter A; DNb-5; Deleted in neuroblastoma 5 protein; PAST-A; Solute carrier family 45 member 1", "protein_names_refseq": "H+/sugar symporter; deleted in neuroblastoma 5 protein; proton-associated sugar transporter A isoform 2; proton-associated sugar transporter A", "tax_id": 9606, "disease": "intellectual developmental disorder with neuropsychiatric features (MONDO:MONDO:0044322)", "pathway": " (hsa:50651)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10729226;27431290;28218747;28434495;29393594;39003656;40541196;41576950", "class_list": "", "function": "Neuron-specific proton-associated hexose transporter, which mediates hexose efflux from lysosomes (PubMed:28434495, PubMed:41576950). Hexose efflux is required for the stability of the vacuolar ATPase (V-ATPase) complex on the lysosomal membrane (PubMed:41576950)., [UniProtKB, PubMed, PubMed]; Our data strongly suggest that recessive mutations in SLC45A1 cause intellectual disability and epilepsy. SLC45A1 thus represents the second cerebral glucose transporter, in addition to GLUT1, to be involved in neurodevelopmental disability., [RefSeq, PubMed]; This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 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": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 30, "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": "A0A0A0MT80;A0A2H2EQP0;Q5VY46;Q5VY49", "ec_number_list": "", "go_molecular_function": "GO:0008506 sucrose:proton symporter activity;GO:0005356 D-glucose:proton symporter activity;GO:0015517 galactose:proton symporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:1904659 D-glucose transmembrane transport;GO:0015757 galactose transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9Y2W3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y3P8-1", "uniprot_id": "SIT1_HUMAN", "mass": 21126.0, "length": 196, "protein_name": "Signaling threshold-regulating transmembrane adapter 1", "gene_name": "SIT1", "organism": "Human", "refseq_name": "signaling threshold-regulating transmembrane adapter 1 precursor", "refseq_ac": "NP_055265", "gene_names_uniprotkb": "SIT1; SIT", "gene_names_refseq": "SIT-R; SIT1; SIT", "protein_names_uniprotkb": "Signaling threshold-regulating transmembrane adapter 1; SHP2-interacting transmembrane adapter protein; Suppression-inducing transmembrane adapter 1; gp30/40", "protein_names_refseq": "SHP-2 interacting transmembrane adaptor protein; SHP2 interacting transmembrane adaptor; SHP2-interacting transmembrane adapter protein; SHP2-interacting transmembrane adaptor protein; gp30/40; signaling threshold-regulating transmembrane adapter 1 precursor; signaling threshold-regulating transmembrane adapter 1; suppression inducing transmembrane adaptor 1; suppression-inducing transmembrane adapter 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:27240)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "10209036;11433379;11491537;15144186;15570572;16094384;16160011;19690332;21957439;25418920;25502872;25810538;26154972;26811146;26992070;27846572;28063628;28467828;28832583;29242379;29393594;29557506;29632046;31844290;32350084;32357974;32502341;33717175;33936100;34357683;34433824;35132862;35705054;38691318;40307207", "class_list": "", "function": "Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells. Involved in positive selection of T-cells., [UniProtKB, PubMed]; SIT as an important modulator of TCR-mediated signaling that regulates T-cell activation, homeostasis and tolerance, [RefSeq, PubMed]; SIT1 identifies circulating hypoactive T cells with elevated cytotoxic molecule secretion in systemic lupus erythematosus patients., [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": 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": 13, "reported_mutagensis": 6, "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": "B2RBP9", "ec_number_list": "", "go_molecular_function": "GO:0019900 kinase binding;GO:0042169 SH2 domain binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007165 signal transduction;GO:0002250 adaptive immune response;GO:0043029 T cell homeostasis;GO:0050863 regulation of T cell activation", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9Y3P8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35237-1", "uniprot_id": "SPB6_HUMAN", "mass": 42622.0, "length": 376, "protein_name": "Serpin B6", "gene_name": "SERPINB6", "organism": "Human", "refseq_name": "serpin B6 isoform b", "refseq_ac": "NP_001182220", "gene_names_uniprotkb": "SERPINB6; PI6; PTI", "gene_names_refseq": "CAP; DFNB91; MSTP057; PI-6; PI6; PTI; SERPINB6; SPI3", "protein_names_uniprotkb": "Serpin B6; CAP; Cytoplasmic antiproteinase; PI-6; Peptidase inhibitor 6; Placental thrombin inhibitor", "protein_names_refseq": "cytoplasmic antiproteinase; protease inhibitor 6 (placental thrombin inhibitor); serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6; serpin B6 isoform b; serpin peptidase inhibitor, clade B (ovalbumin), member 6", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 91 (Disease Ontology:DOID:0110536)", "pathway": " (hsa:5269); (R-HSA-6798695); (R-HSA-75205)", "pathway_count": 3, "publication_count": 79, "publication_id_list": "10.1101/2023.09.13.557529;10068683;11237011;12007600;134998;14670919;17666018;17761692;1829461;1846368;18669648;20451170;2156852;2166055;22223895;23186163;2318848;23193360;23483454;23650620;2440681;24715725;24900876;2496749;2503541;2521625;2544876;25576301;26154972;27600516;27862975;28228285;28832583;28834231;29242379;2935528;29393594;29493099;29557506;2962641;29632711;3011081;3023326;30315122;30379171;30429286;30484775;3090045;31844290;32157095;32350084;32488085;32938616;32983136;33091337;33123756;33214551;33592498;33968037;33981976;34019948;34229054;35051231;35251023;35318648;35580925;36215666;36284347;37938771;39894887;6433976;6448849;7199524;8136380;8415716;8486644;8692836;9414276;9886297", "class_list": "", "function": "A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss., [RefSeq, PubMed]; May be involved in the regulation of serine proteinases present in the brain or extravasated from the blood (By similarity). Inhibitor of cathepsin G, kallikrein-8 and thrombin. May play an important role in the inner ear in the protection against leakage of lysosomal content during stress and loss of this protection results in cell death and sensorineural hearing loss., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RBA8;Q59F97;Q5TD06;Q7Z2Y7;Q96J44;Q9UDI7", "ec_number_list": "", "go_molecular_function": "GO:0002020 protease binding;GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007605 sensory perception of sound;GO:0071470 cellular response to osmotic stress", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "P35237-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5SXM2-1", "uniprot_id": "SNPC4_HUMAN", "mass": 159433.0, "length": 1469, "protein_name": "snRNA-activating protein complex subunit 4", "gene_name": "SNAPC4", "organism": "Human", "refseq_name": "snRNA-activating protein complex subunit 4 isoform a", "refseq_ac": "NP_003077", "gene_names_uniprotkb": "SNAPC4; SNAP190", "gene_names_refseq": "NEDRSO; PTFalpha; SNAP190; SNAPC4", "protein_names_uniprotkb": "snRNA-activating protein complex subunit 4; PSE-binding factor subunit alpha; PTF subunit alpha; Proximal sequence element-binding transcription factor subunit alpha; SNAPc 190 kDa subunit; SNAPc subunit 4; snRNA-activating protein complex 190 kDa subunit", "protein_names_refseq": "PSE-binding factor subunit alpha; PTF subunit alpha; SNAPc 190 kDa subunit; SNAPc subunit 4; proximal sequence element-binding transcription factor subunit alpha; snRNA-activating protein complex 190 kDa subunit; snRNA-activating protein complex subunit 4 isoform a; snRNA-activating protein complex subunit 4", "tax_id": 9606, "disease": "neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction (MONDO:MONDO:0957791)", "pathway": " (hsa:6621); (R-HSA-6807505); (R-HSA-749476); (R-HSA-76071)", "pathway_count": 4, "publication_count": 127, "publication_id_list": "10022900;10421633;11056176;11237011;11463379;11856838;12414730;12574128;12621023;14701755;15302935;1535687;16239144;16308568;16901896;17322306;1739980;18079403;18220336;1829677;18452278;18669648;19413330;19664995;19667075;19690332;20457598;2125285;21406692;22137580;22231121;22252320;22441827;22645359;23166507;23186163;23481700;23932780;24097444;24270878;24334645;24715725;24997600;25418920;25576301;25645385;25675981;25880248;26154972;26375851;26811146;26992070;27846572;27862975;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29437277;2944599;29493099;29508533;29557506;29632711;29786170;30315122;30379171;30410026;30429286;30524438;31154438;31530632;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34171305;34211107;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36241641;36965478;38253038;39894887;7715707;7891697;8253082;8339931;8628262;8668525;9003788;9009278;9153304;9188510;9234698;9407024;9418884;9705341;9832505", "class_list": "", "function": "Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis., [RefSeq, PubMed]; Our study confirmed that an SNP rs11145835 in 9q34.3 that harbors CARD9 and SNAPC4 is associated with ankylosing spondylitis in a Chinese Han population, [RefSeq, PubMed]; Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box., [UniProtKB, PubMed, PubMed]; This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016]., [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": 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": 8, "reported_glycation": 0, "reported_snv": 33, "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": "Q9Y6P7", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0016251 RNA polymerase II general transcription initiation factor activity;GO:0001006 RNA polymerase III type 3 promoter sequence-specific DNA binding;GO:0000995 RNA polymerase III general transcription initiation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0019185 snRNA-activating protein complex", "go_biological_process": "GO:0042795 snRNA transcription by RNA polymerase II;GO:0042796 snRNA transcription by RNA polymerase III;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "Q5SXM2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NH21-1", "uniprot_id": "SERC4_HUMAN", "mass": 56870.0, "length": 518, "protein_name": "Serine incorporator 4", "gene_name": "SERINC4", "organism": "Human", "refseq_name": "serine incorporator 4 isoform 1", "refseq_ac": "NP_001244960", "gene_names_uniprotkb": "SERINC4", "gene_names_refseq": "SERINC4", "protein_names_uniprotkb": "Serine incorporator 4", "protein_names_refseq": "serine incorporator 4 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:619189); (R-HSA-977347)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "11054547;11237011;12393813;12633500;15193426;15536068;16120614;16580895;18342636;19235232;20106978;26416733;26703715;30484775;33968037;9188776", "class_list": "", "function": "Incorporates a polar amino acid serine into membranes and facilitates the synthesis of two serine-derived lipids, phosphatidylserine and sphingolipids., [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": "B2RN41;Q3YL75", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0008654 phospholipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "A6NH21-1", "record_type": "protein" }, { "uniprot_canonical_ac": "B1AK76-1", "uniprot_id": "SNUFL_HUMAN", "mass": 14245.0, "length": 121, "protein_name": "Putative SNURF-like protein", "gene_name": "SNURFL", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "SNURFL; CXorf19", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative SNURF-like 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:0016607 nuclear speck", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "B1AK76-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75094-1", "uniprot_id": "SLIT3_HUMAN", "mass": 167713.0, "length": 1523, "protein_name": "Slit homolog 3 protein", "gene_name": "SLIT3", "organism": "Human", "refseq_name": "slit homolog 3 protein isoform 1 precursor", "refseq_ac": "NP_001258875", "gene_names_uniprotkb": "SLIT3; KIAA0814; MEGF5; PRO1336; SLIL2", "gene_names_refseq": "MEGF5; SLIL2; SLIT1; SLIT3; Slit-3; slit2", "protein_names_uniprotkb": "Slit homolog 3 protein; Multiple EGF-like domains protein 5; Multiple epidermal growth factor-like domains protein 5; Slit-3", "protein_names_refseq": "multiple EGF like domains 5; multiple EGF-like domains protein 5; multiple epidermal growth factor-like domains protein 5; slit homolog 3 protein isoform 1 precursor; slit homolog 3", "tax_id": 9606, "disease": "congenital diaphragmatic hernia (Disease Ontology:DOID:3827)", "pathway": " (hsa:6586); (R-HSA-373752); (R-HSA-376176); (R-HSA-428542)", "pathway_count": 4, "publication_count": 46, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10102266;10102268;10349621;10892742;11375980;12154370;12508280;12975309;15063764;16762451;17174565;17565045;20375348;23584533;23719902;24715725;24936616;25645385;26586761;27600516;27726376;28657654;29557506;29741879;29786170;29789417;31154438;31844290;31848261;32387766;33592498;35034539;35051231;36010968;36017912;36793891;37074911;37938771;38414132;38700874;39531497;9693030;9813312;9858595", "class_list": "", "function": "Abnormal expression of SLIT3 induces intravillous vascularization dysplasia in ectopic pregnancy. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA PGM5-AS1 Inhibits the Progression of Bladder Cancer by Regulating miR-587/SLIT3 Axis., [RefSeq, PubMed]; 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]; May act as molecular guidance cue in cellular migration, and function may be mediated by interaction with roundabout homolog receptors., [UniProtKB]; Stromal Cell-SLIT3/Cardiomyocyte-ROBO1 Axis Regulates Pressure Overload-Induced Cardiac Hypertrophy., [RefSeq, PubMed]; The Role of SLIT3-ROBO4 Signaling in Endoplasmic Reticulum Stress-Induced Delayed Corneal Epithelial and Nerve Regeneration., [RefSeq, PubMed]; The protein encoded by this gene is secreted, likely interacting with roundabout homolog receptors to effect cell migration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]., [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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 71, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 14, "disease_count": 1, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "A6H8U9;J3KNP3;O95804;Q9UFH5", "ec_number_list": "", "go_molecular_function": "GO:0008201 heparin binding;GO:0005509 calcium ion binding;GO:0048495 Roundabout binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005739 mitochondrion;GO:0030054 cell junction", "go_biological_process": "GO:0070100 negative regulation of chemokine-mediated signaling pathway;GO:0032870 cellular response to hormone stimulus;GO:0030308 negative regulation of cell growth;GO:0003181 atrioventricular valve morphogenesis;GO:0060412 ventricular septum morphogenesis", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "O75094-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P29508-1", "uniprot_id": "SPB3_HUMAN", "mass": 44565.0, "length": 390, "protein_name": "Serpin B3", "gene_name": "SERPINB3", "organism": "Human", "refseq_name": "serpin B3", "refseq_ac": "NP_008850", "gene_names_uniprotkb": "SERPINB3; SCCA1; SCCA", "gene_names_refseq": "HsT1196; SCCA-1; SCCA-PD; SCCA1; SCC; SERPINB3; SSCA1; T4-A", "protein_names_uniprotkb": "Serpin B3; Protein T4-A; SCCA-1; Squamous cell carcinoma antigen 1", "protein_names_refseq": "protein T4-A; serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3; serpin B3; serpin peptidase inhibitor, clade B (ovalbumin), member 3; squamous cell carcinoma antigen 1", "tax_id": 9606, "disease": "familial encephalopathy with neuroserpin inclusion bodies (Disease Ontology:DOID:0050831); alpha 1-antitrypsin deficiency (Disease Ontology:DOID:13372)", "pathway": " (hsa:6317); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10956412;12975381;14970861;19166818;1958219;20068231;21383048;23650620;26374642;27726376;28510447;28855257;29351928;29393594;30397120;34078123;34270940;34886853;35022507;35051231;35580925;35874657;37238609;37980563;37990490;38665916;40596516;7724531;8692836", "class_list": "", "function": "Clinical value of MRI, serum SCCA, and CA125 levels in the diagnosis of lymph node metastasis and para-uterine infiltration in cervical cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Lysoptosis is an evolutionarily conserved cell death pathway moderated by intracellular serpins. Publication Status: Online-Only, [RefSeq, PubMed]; May act as a papain-like cysteine protease inhibitor to modulate the host immune response against tumor cells. Also functions as an inhibitor of UV-induced apoptosis via suppression of the activity of c-Jun NH(2)-terminal kinase (JNK1)., [UniProtKB, PubMed]; SERPINB3-MYC axis induces the basal-like/squamous subtype and enhances disease progression in pancreatic cancer., [RefSeq, PubMed]; SerpinB3 as a Pro-Inflammatory Mediator in the Progression of Experimental Non-Alcoholic Fatty Liver Disease. Publication Status: Online-Only, [RefSeq, PubMed]; The polymorphic variant of SerpinB3 (SerpinB3-PD) is associated with faster cirrhosis decompensation., [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": 4, "reported_glycation": 0, "reported_snv": 33, "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": "A6NDM2;B2RBT5;B3W5Y6;Q53H28;Q53YB5;Q86VF3;Q86W04;Q8IWL4;Q8IXI3;Q96J21;Q9BYF8", "ec_number_list": "", "go_molecular_function": "GO:0002020 protease binding;GO:0004867 serine-type endopeptidase inhibitor activity;GO:0004869 cysteine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "P29508-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35716-1", "uniprot_id": "SOX11_HUMAN", "mass": 46679.0, "length": 441, "protein_name": "Transcription factor SOX-11", "gene_name": "SOX11", "organism": "Human", "refseq_name": "transcription factor SOX-11", "refseq_ac": "NP_003099", "gene_names_uniprotkb": "SOX11", "gene_names_refseq": "CSS9; IDDMOH; MRD27; SOX11", "protein_names_uniprotkb": "Transcription factor SOX-11", "protein_names_refseq": "SRY (sex-determining region Y)-box 11; SRY-box 11; SRY-related HMG-box gene 11; transcription factor SOX-11", "tax_id": 9606, "disease": "Coffin-Siris syndrome 9 (Disease Ontology:DOID:0070057); Coffin-Siris syndrome (Disease Ontology:DOID:1925); Weissenbacher-Zweymuller syndrome (Disease Ontology:DOID:4258)", "pathway": " (hsa:6664)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "10574465;15345747;18669648;22645359;24886874;26543203;26992070;28121444;28787104;28834231;29557506;30379171;30385877;30429286;31844290;32387766;32488085;32897882;32938616;33086258;33392160;33592498;33785884;33968037;33981976;34211107;34561969;35051231;3530540;35318648;35341651;35642566;35938035;36010968;36768267;37916390;38237141;38570586;38620074;38760444;8332506;8666406", "class_list": "", "function": "Epigenetic activation of SOX11 is associated with recurrence and progression of ductal carcinoma in situ to invasive breast cancer., [RefSeq, PubMed]; Impaired communication ability in SOX11 syndrome., [RefSeq, PubMed]; Overview of the complications of diabetes., [RefSeq, PubMed]; SOX11 expression is restricted to EBV-negative Burkitt lymphoma and is associated with molecular genetic features., [RefSeq, PubMed]; SOX11 is a novel binding partner and endogenous inhibitor of SAMHD1 ara-CTPase activity in mantle cell lymphoma., [RefSeq, PubMed]; SOX11/PRDX2 axis modulates redox homeostasis and chemoresistance in aggressive mantle cell lymphoma. Erratum:[Sci Rep. 2024 Jun 11;14(1):13426. doi: 10.1038/s41598-024-61080-9. PMID: 38862588] Publication Status: Online-Only, [RefSeq, PubMed]; This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that acts as a transcriptional activator (PubMed:24886874, PubMed:26543203). Binds cooperatively with POU3F2/BRN2 or POU3F1/OCT6 to gene promoters, which enhances transcriptional activation (By similarity). Acts as a transcriptional activator of TEAD2 by binding to its gene promoter and first intron (By similarity). Plays a redundant role with SOX4 and SOX12 in cell survival of developing tissues such as the neural tube, branchial arches and somites, thereby contributing to organogenesis (By similarity)., [UniProtKB, 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": 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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q4ZFV8", "ec_number_list": "", "go_molecular_function": "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: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:0017015 regulation of transforming growth factor beta receptor signaling pathway;GO:2000648 positive regulation of stem cell proliferation;GO:0061386 closure of optic fissure;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P35716-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61278-1", "uniprot_id": "SMS_HUMAN", "mass": 12736.0, "length": 116, "protein_name": "Somatostatin", "gene_name": "SST", "organism": "Human", "refseq_name": "somatostatin preproprotein", "refseq_ac": "NP_001039", "gene_names_uniprotkb": "SST", "gene_names_refseq": "SMST; SST1; SST", "protein_names_uniprotkb": "Somatostatin; Growth hormone release-inhibiting factor", "protein_names_refseq": "growth hormone release-inhibiting factor; prepro-somatostatin; somatostatin preproprotein; somatostatin-14; somatostatin-28", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); gastric ulcer (Disease Ontology:DOID:10808); vascular dementia (Disease Ontology:DOID:8725)", "pathway": " (hsa:6750); (R-HSA-375276); (R-HSA-418594); (R-HSA-9022702)", "pathway_count": 4, "publication_count": 120, "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;14593183;14593184;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16923326;1710450;1710578;1719979;1722333;17994015;18127230;18434541;1847994;18577758;23446738;23690594;24906252;2534964;2649896;2748346;27496565;2834384;29557506;29615476;31154438;3202875;3366244;35065098;35163374;3525564;36284347;36361790;36834860;37073488;37938771;3856870;6126875;6142531;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;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "Inhibits the secretion of pituitary hormones, including that of growth hormone/somatotropin (GH1), PRL, ACTH, luteinizing hormone (LH) and TSH. Also impairs ghrelin- and GnRH-stimulated secretion of GH1 and LH; the inhibition of ghrelin-stimulated secretion of GH1 can be further increased by neuronostatin., [UniProtKB, PubMed]; May enhance low-glucose-induced glucagon release by pancreatic alpha cells (By similarity). This effect may be mediated by binding to GPR107 and PKA activation (By similarity). May regulate cardiac contractile function (By similarity). May compromise cardiomyocyte viability (By similarity). In the central nervous system, may impair memory retention and may affect hippocampal excitability (By similarity). May also have anxiolytic and anorexigenic effects (By similarity). May play a role in arterial pressure regulation (By similarity). May inhibit basal, but not ghrelin- or GnRH-stimulated secretion of GH1 or LH, but does not affect the release of other pituitary hormones, including PRL, ACTH, FSH or TSH. Potentiates inhibitory action of somatostatin on ghrelin-stimulated secretion of GH1, but not that on GnRH-stimulated secretion of LH (PubMed:29615476)., [UniProtKB, UniProtKB, PubMed, UniProtKB]; Role of Somatostatin Signalling in Neuroendocrine Tumours. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Somatostatin Containing delta-Cell Number Is Reduced in Type-2 Diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; Somatostatin, Cortistatin and Their Receptors Exert Antitumor Actions in Androgen-Independent Prostate Cancer Cells: Critical Role of Endogenous Cortistatin. Publication Status: Online-Only, [RefSeq, PubMed]; The Nature of Prefrontal Cortical GABA Neuron Alterations in Schizophrenia: Markedly Lower Somatostatin and Parvalbumin Gene Expression Without Missing Neurons., [RefSeq, PubMed]; The hormone somatostatin has active 14 aa and 28 aa forms that are produced by alternate cleavage of the single preproprotein encoded by this gene. Somatostatin is expressed throughout the body and inhibits the release of numerous secondary hormones by binding to high-affinity G-protein-coupled somatostatin receptors. This hormone is an important regulator of the endocrine system through its interactions with pituitary growth hormone, thyroid stimulating hormone, and most hormones of the gastrointestinal tract. Somatostatin also affects rates of neurotransmission in the central nervous system and proliferation of both normal and tumorigenic cells. [provided by RefSeq, Jul 2008]., [RefSeq]; Urocortin3: Local inducer of somatostatin release and bellwether of beta cell maturity. 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": 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": "B2R5G3;P01166", "ec_number_list": "", "go_molecular_function": "GO:0005179 hormone activity", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0098992 neuronal dense core vesicle;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007267 cell-cell signaling;GO:0007584 response to nutrient;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "P61278-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3KNW1-1", "uniprot_id": "SNAI3_HUMAN", "mass": 32474.0, "length": 292, "protein_name": "Zinc finger protein SNAI3", "gene_name": "SNAI3", "organism": "Human", "refseq_name": "zinc finger protein SNAI3", "refseq_ac": "NP_840101", "gene_names_uniprotkb": "SNAI3; ZNF293", "gene_names_refseq": "SMUC; SNAI3; SNAIL3; ZNF293; Zfp293", "protein_names_uniprotkb": "Zinc finger protein SNAI3; Protein snail homolog 3; Zinc finger protein 293", "protein_names_refseq": "protein snail homolog 3; snail family zinc finger 3; zinc finger protein 293; zinc finger protein SNAI3", "tax_id": 9606, "disease": "", "pathway": " (hsa:333929)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "24638100;29393594;34586742", "class_list": "", "function": "PAK5-stabilized Smuc confers renal cell carcinoma metastasis., [RefSeq, PubMed]; SNAI1, SNAI2, SNAI3 show unequal oncogenic potential, strictly correlating with their ability to promote epithelial-to-mesenchymal transition. Publication Status: Online-Only, [RefSeq, PubMed]; SNAI3 is a member of the SNAIL gene family, named for the Drosophila snail gene, which plays roles in mesodermal formation during embryogenesis (Katoh and Katoh, 2003 [PubMed 12579345]).[supplied by OMIM, Apr 2009]., [RefSeq]; Seems to inhibit myoblast differentiation. Transcriptional repressor of E-box-dependent transactivation of downstream myogenic bHLHs genes. Binds preferentially to the canonical E-box sequences 5'-CAGGTG-3' and 5'-CACCTG-3' (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": 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": "Q86SU5", "ec_number_list": "", "go_molecular_function": "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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0005507 copper ion binding", "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": 0.4, "record_id": "Q3KNW1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3ZLR7-1", "uniprot_id": "SP201_HUMAN", "mass": 89431.0, "length": 823, "protein_name": "Transcription factor SPT20 homolog-like 1", "gene_name": "SUPT20HL1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "SUPT20HL1; FAM48B1", "gene_names_refseq": "", "protein_names_uniprotkb": "Transcription factor SPT20 homolog-like 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:100130302)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;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": 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": "", "ec_number_list": "", "go_molecular_function": "GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0000124 SAGA complex", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q3ZLR7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VUM1-1", "uniprot_id": "SDHF4_HUMAN", "mass": 12213.0, "length": 108, "protein_name": "Succinate dehydrogenase assembly factor 4, mitochondrial", "gene_name": "SDHAF4", "organism": "Human", "refseq_name": "succinate dehydrogenase assembly factor 4, mitochondrial precursor", "refseq_ac": "NP_660310", "gene_names_uniprotkb": "SDHAF4; C6orf57", "gene_names_refseq": "C6orf57; SDHAF4; Sdh8", "protein_names_uniprotkb": "Succinate dehydrogenase assembly factor 4, mitochondrial; SDH assembly factor 4; SDHAF4", "protein_names_refseq": "SDH assembly factor 4; UPF0369 protein C6orf57; succinate dehydrogenase assembly factor 4, mitochondrial precursor; succinate dehydrogenase assembly factor 4, mitochondrial", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930); candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:135154); (R-HSA-9854311)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "15247478;17923681;19628817;20167786;20877624;22416140;24954416;24954417;26749241;28218747;28380382;28391595;28887308;29437277;34289383;36672824;9989622", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol (PubMed:24954416). Binds to the flavoprotein subunit SDHA in its FAD-bound form, blocking the generation of excess reactive oxygen species (ROS) and facilitating its assembly with the iron-sulfur protein subunit SDHB into the SDH catalytic dimer (By similarity)., [UniProtKB, PubMed, UniProtKB]; THADA, SDHAF4, and MACF1 Gene Polymorphisms and Placental Expression in Women with Gestational Diabetes. 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E1P532", "ec_number_list": "", "go_molecular_function": "GO:0008047 enzyme activator activity;GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0034553 mitochondrial respiratory chain complex II assembly;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q5VUM1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZQN7-1", "uniprot_id": "SO4C1_HUMAN", "mass": 78948.0, "length": 724, "protein_name": "Solute carrier organic anion transporter family member 4C1", "gene_name": "SLCO4C1", "organism": "Human", "refseq_name": "solute carrier organic anion transporter family member 4C1", "refseq_ac": "NP_851322", "gene_names_uniprotkb": "SLCO4C1; OATP4C1; OATPX; SLC21A20", "gene_names_refseq": "OATP-H; OATP-M1; OATP4C1; OATPX; PRO2176; SLC21A20; SLCO4C1", "protein_names_uniprotkb": "Solute carrier organic anion transporter family member 4C1; OATP-H; OATP-M1; OATP4C1; Organic anion transporter M1; Organic anion transporting polypeptide 4C1; SLCO4C1; Solute carrier family 21 member 20", "protein_names_refseq": "organic anion transporter M1; organic anion transporting polypeptide 4C1; solute carrier family 21 member 20; solute carrier organic anion transporter family member 4C1", "tax_id": 9606, "disease": "kidney failure (Disease Ontology:DOID:1074)", "pathway": " (hsa:353189); (R-HSA-6798695); (R-HSA-879518)", "pathway_count": 3, "publication_count": 41, "publication_id_list": "10.1101/2023.09.13.557529;10358072;10601278;11159893;11316767;12351693;14993604;16971491;19129463;19197249;19413330;19664995;19797118;20058876;20610891;20628086;20691413;23650620;24190977;25527620;28218747;30343886;30459171;30865704;31288850;31844290;32020231;32157095;32350084;32502341;32642843;32897882;33091337;33968037;34048668;34357683;35051231;35154160;37074911;8692836;8787677", "class_list": "", "function": "Isolation, cloning, and activity in the transport pathway of digoxin in the kidney, [RefSeq, PubMed]; Knockdown of SLCO4C1 inhibits cell proliferation and metastasis in endometrial cancer through inactivating the PI3K/Akt signaling pathway., [RefSeq, PubMed]; Mediates the transport of organic anions such as steroids (estrone 3-sulfate, chenodeoxycholate, glycocholate) and thyroid hormones (3,3',5-triiodo-L-thyronine (T3), L-thyroxine (T4)), in the kidney (PubMed:14993604, PubMed:19129463, PubMed:20610891). Capable of transporting cAMP and pharmacological substances such as digoxin, ouabain and methotrexate (PubMed:14993604). Transport is independent of sodium, chloride ion, and ATP (PubMed:14993604). Transport activity is stimulated by an acidic extracellular environment due to increased substrate affinity to the transporter (PubMed:19129463). The driving force for this transport activity is currently not known (By similarity). The role of hydrogencarbonate (HCO3(-), bicarbonate) as the probable counteranion that exchanges for organic anions is still not well defined (PubMed:19129463). Functions as an uptake transporter at the apical membrane, suggesting a role in renal reabsorption (By similarity). Involved in the renal secretion of the uremic toxin ADMA (N(omega),N(omega)-dimethyl-L-arginine or asymmetrical dimethylarginine), which is associated to cardiovascular events and mortality, and the structurally related amino acids L-arginine and L-homoarginine (a cardioprotective biomarker) (PubMed:30865704). Can act bidirectionally, suggesting a dual protective role of this transport protein; exporting L-homoarginine after being synthesized in proximal tubule cells, and mediating uptake of ADMA from the blood into proximal tubule cells where it is degraded by the enzyme dimethylarginine dimethylaminohydrolase 1 (DDAH1) (PubMed:30865704, PubMed:32642843). May be involved in sperm maturation by enabling directed movement of organic anions and compounds within or between cells (By similarity). This ion-transporting process is important to maintain the strict epididymal homeostasis necessary for sperm maturation (By similarity). May have a role in secretory functions since seminal vesicle epithelial cells are assumed to secrete proteins involved in decapacitation by modifying surface proteins to facilitate the acquisition of the ability to fertilize the egg (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, 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]; Role of OATP4C1 in Renal Handling of Remdesivir and its Nucleoside Analog GS-441524: The First Approved Drug for Patients with COVID-19., [RefSeq, PubMed]; SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008]., [RefSeq]; SLCO4C1 promoter methylation, including that at three CpG sites, namely, cg06480736, cg19774478 and cg22149516, is a potential biomarker for risk stratification and might offer significantly relevant prognostic information for prostate cancer patients after radical prostatectomy. Publication Status: Online-Only, [RefSeq, PubMed]; Single-nucleotide polymorphisms and haplotypes in SLCO4C1 in blacks are significantly associated with preeclampsia., [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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q86UG5", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015291 secondary active transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0035579 specific granule membrane;GO:0070062 extracellular exosome;GO:0035577 azurophil granule membrane", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0043252 sodium-independent organic anion transport", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q6ZQN7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IW52-1", "uniprot_id": "SLIK4_HUMAN", "mass": 94331.0, "length": 837, "protein_name": "SLIT and NTRK-like protein 4", "gene_name": "SLITRK4", "organism": "Human", "refseq_name": "SLIT and NTRK-like protein 4 precursor", "refseq_ac": "NP_001171678", "gene_names_uniprotkb": "SLITRK4", "gene_names_refseq": "SLITRK4", "protein_names_uniprotkb": "SLIT and NTRK-like protein 4", "protein_names_refseq": "SLIT and NTRK-like protein 4 precursor; slit and trk like gene 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:139065); (R-HSA-388844)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10.1038/emboj.2013.79;14557068;15750591;16959974;19252495;19651622;20139422;21262467;21940441;22286174;22357843;23345436;23584533;25385546;25892735;25908590;27812321;29393594;29557506;30459171;32161166;33392160;35051231;35292404;35580925;7796809;9624153", "class_list": "", "function": "Aberrant overexpression of HOTAIR inhibits abdominal adipogenesis through remodelling of genome-wide DNA methylation and transcription., [RefSeq, PubMed]; It is involved in synaptogenesis and promotes synapse differentiation (PubMed:27812321). Suppresses neurite outgrowth (By similarity)., [UniProtKB, UniProtKB, PubMed]; This gene encodes a transmembrane protein belonging to the the SLITRK family. These family members include two N-terminal leucine-rich repeat domains similar to those found in the axonal growth-controlling protein SLIT, as well as C-terminal regions similar to neurotrophin receptors. Studies of an homologous protein in mouse suggest that this family member functions to suppress neurite outgrowth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]., [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": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q5JXG3;Q8TCM8;Q96DL3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane", "go_biological_process": "GO:0007409 axonogenesis;GO:0051965 positive regulation of synapse assembly;GO:0050807 regulation of synapse organization", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q8IW52-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8ND04-1", "uniprot_id": "SMG8_HUMAN", "mass": 109684.0, "length": 991, "protein_name": "Nonsense-mediated mRNA decay factor SMG8", "gene_name": "SMG8", "organism": "Human", "refseq_name": "nonsense-mediated mRNA decay factor SMG8", "refseq_ac": "NP_060619", "gene_names_uniprotkb": "SMG8; ABC2; C17orf71", "gene_names_refseq": "ALKUS; C17orf71; SMG8", "protein_names_uniprotkb": "Nonsense-mediated mRNA decay factor SMG8; Amplified in breast cancer gene 2 protein; Protein smg-8 homolog", "protein_names_refseq": "amplified in breast cancer gene 2 protein; nonsense-mediated mRNA decay factor SMG8; protein SMG8; protein smg-8 homolog; smg-8 homolog, nonsense mediated mRNA decay factor", "tax_id": 9606, "disease": "Alzahrani-Kuwahara syndrome (MONDO:MONDO:0859136)", "pathway": " (hsa:55181); (R-HSA-975957)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "11237011;11331269;11532962;11544179;11546874;11551508;12417715;12554878;12718880;12832468;14527413;14636577;14742663;14973490;15034551;15546618;15721257;16186820;16209946;16284618;16452507;16601204;17053788;17352659;17363904;17803942;17893241;18066079;18256688;18423202;18524595;18657639;18669648;18767875;18974281;19060897;19150429;19359157;19417104;19478851;19503078;19556969;19651622;19859661;19909264;20023408;20068231;20479275;20691628;20817927;20930030;21145460;21245168;21406692;21419344;23085078;23186163;23234702;23983263;24129315;25576301;25645385;26992070;27600516;27846572;28218747;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29557506;30315122;30379171;30484775;30779550;31092671;31154438;31530632;31844290;32157095;32161166;32357974;32387766;32469312;32488085;32938616;33242396;33298915;33392160;33968037;34087483;34171305;34761517;35051231;35580925;37938771;38253038", "class_list": "", "function": "Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait., [RefSeq, PubMed]; Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons., [UniProtKB, UniProtKB, UniProtKB]; Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG9 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required to mediate the recruitment of SMG1 to the ribosome:SURF complex and to suppress SMG1 kinase activity until the ribosome:SURF complex locates the exon junction complex (EJC). Acts as a regulator of kinase activity., [UniProtKB, PubMed]; Knockdown of SMG-8 produced the best effect for restoring defective mRNA and protein levels without affecting cell growth, cell-cycle progression, or endoplasmic reticulum stress in Ullrich congenital muscular dystrophy fibroblasts, [RefSeq, PubMed]; Large-scale conformational changes induced by SMG-8 after SMG-9-mediated recruitment tune SMG-1 kinase activity to modulate nonsense-mediated mRNA decay, [RefSeq, PubMed]; Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans., [RefSeq, PubMed]; Structure of substrate-bound SMG1-8-9 kinase complex reveals molecular basis for phosphorylation specificity. 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "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": "Q8N5U5;Q8TDN0;Q9H5P5;Q9NVQ1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;GO:0045859 regulation of protein kinase activity;GO:2000622 regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q8ND04-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96BD0-1", "uniprot_id": "SO4A1_HUMAN", "mass": 77193.0, "length": 722, "protein_name": "Solute carrier organic anion transporter family member 4A1", "gene_name": "SLCO4A1", "organism": "Human", "refseq_name": "solute carrier organic anion transporter family member 4A1", "refseq_ac": "NP_057438", "gene_names_uniprotkb": "SLCO4A1; OATP1; OATP4A1; OATPE; SLC21A12", "gene_names_refseq": "OATP-E; OATP4A1; OATPE; OATPRP1; POAT; SLC21A12; SLCO4A1", "protein_names_uniprotkb": "Solute carrier organic anion transporter family member 4A1; Colon organic anion transporter; OATP-E; OATP-RP1; OATP4A1; OATPRP1; Organic anion transporter polypeptide-related protein 1; Organic anion-transporting polypeptide E; POAT; Sodium-independent organic anion transporter E; Solute carrier family 21 member 12", "protein_names_refseq": "colon organic anion transporter; organic anion transporter polypeptide-related protein 1; organic anion transporting polypeptide E; sodium-independent organic anion transporter E; solute carrier family 21 (organic anion transporter), member 12; solute carrier family 21 member 12; solute carrier organic anion transporter family member 4A1", "tax_id": 9606, "disease": "", "pathway": " (hsa:28231); (R-HSA-879518)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10.1101/2023.09.13.557529;10358072;10601278;10873595;11159893;11237011;11316767;12351693;12409283;14993604;15302935;16971491;18212344;18669648;18691976;18767875;19129463;19415658;19651622;19797118;20068231;23186163;24190977;25527620;25892735;26154972;26992070;27543614;27893789;28228285;28378090;28514659;28832583;28904123;29242379;29314611;29734253;29769354;30343886;30484775;31217245;31222486;31844290;32350084;32357974;32488085;32897882;32983136;33298915;33968037;34357683;34405274;34509645;34638773;35051231;35307651;35561310;36241641;38275113;8787677", "class_list": "", "function": "Abundance of the Organic Anion-transporting Polypeptide OATP4A1 in Early-Stage Colorectal Cancer Patients: Association With Disease Relapse., [RefSeq, PubMed]; Organic anion antiporter with apparent broad substrate specificity. Recognizes various substrates including thyroid hormones 3,3',5-triiodo-L-thyronine (T3), L-thyroxine (T4) and 3,3',5'-triiodo-L-thyronine (rT3), conjugated steroids such as estrone 3-sulfate and estradiol 17-beta glucuronide, bile acids such as taurocholate and prostanoids such as prostaglandin E2, likely operating in a tissue-specific manner (PubMed:10873595, PubMed:19129463, PubMed:30343886). May be involved in uptake of metabolites from the circulation into organs such as kidney, liver or placenta. Possibly drives the selective transport of thyroid hormones and estrogens coupled to an outward glutamate gradient across the microvillous membrane of the placenta (PubMed:30343886). The transport mechanism, its electrogenicity and potential tissue-specific counterions remain to be elucidated (Probable)., [UniProtKB, PubMed, PubMed, PubMed]; Placental Expression of Bile Acid Transporters in Intrahepatic Cholestasis of Pregnancy. Publication Status: Online-Only, [RefSeq, PubMed]; SLCO4A1 may be a valuable marker of poor prognostic for colorectal cancer (CRC). Furthermore, SLCO4A1 plays an important role in CRC cell proliferation, migration, invasion, and carcinogenesis, [RefSeq, PubMed]; SLCO4A1, as a novel prognostic biomarker of non-small cell lung cancer, promotes 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": 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 9884, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9H4T7;Q9H4T8;Q9H8P2;Q9NWX8;Q9UI35;Q9UIG7", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015349 thyroid hormone transmembrane transporter activity;GO:0015132 prostaglandin transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0030054 cell junction;GO:0016020 membrane", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0043252 sodium-independent organic anion transport;GO:0055085 transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q96BD0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96P63-1", "uniprot_id": "SPB12_HUMAN", "mass": 46276.0, "length": 405, "protein_name": "Serpin B12", "gene_name": "SERPINB12", "organism": "Human", "refseq_name": "serpin B12 isoform 1", "refseq_ac": "NP_001294857", "gene_names_uniprotkb": "SERPINB12", "gene_names_refseq": "SERPINB12; YUKOPIN", "protein_names_uniprotkb": "Serpin B12", "protein_names_refseq": "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12; serpin B12 isoform 1; serpin B12; serpin peptidase inhibitor, clade B (ovalbumin), member 12", "tax_id": 9606, "disease": "alpha 1-antitrypsin deficiency (Disease Ontology:DOID:13372)", "pathway": " (hsa:89777); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "11604408;20068231;23650620;26220980;26374642;26375851;26497600;29242379;29557506;30045019;30397120;31026779;31154438;31653522;31844290;32938616;32983136;33091337;34171305;35051231;38504347;38665916;8692836", "class_list": "", "function": "Data suggest that SERPINB12, like some other intracellular serpins, may play a vital role in barrier function by providing protection of epithelial cells., [RefSeq, PubMed]; HSLFN12's partner hSerpinB12 may contribute to heterochromatin formation., [RefSeq, PubMed]; Inhibits trypsin and plasmin, but not thrombin, coagulation factor Xa, or urokinase-type plasminogen activator (PubMed:11604408). May play a role in cell differentiation (PubMed:30045019)., [UniProtKB, PubMed, PubMed]; SERPINB12 as a possible marker of steroid dependency in children with eosinophilic esophagitis: A pilot study., [RefSeq, PubMed]; SERPINB12 formed a covalent complex with GZMA and inhibited the enzyme with typical serpin slow-binding kinetics. SERPINB12 also inhibited Hepsin. SERPINB12 may function as an endogenous inhibitor of these peptidases., [RefSeq, PubMed]; SLFN12 regulates human enterocytic differentiation by a pathway involving SERPB12, the deubiquitylases, and Cdx2., [RefSeq, PubMed]; Smoking behavior associated upregulation of SERPINB12 promotes proliferation and metastasis via activating WNT signaling in NSCLC. 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": 0, "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": "Q3SYB4", "ec_number_list": "", "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0101003 ficolin-1-rich granule membrane", "go_biological_process": "GO:0042177 negative regulation of protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q96P63-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PX8-1", "uniprot_id": "SLIK1_HUMAN", "mass": 77735.0, "length": 696, "protein_name": "SLIT and NTRK-like protein 1", "gene_name": "SLITRK1", "organism": "Human", "refseq_name": "SLIT and NTRK-like protein 1 precursor", "refseq_ac": "NP_001268432", "gene_names_uniprotkb": "SLITRK1; KIAA1910; LRRC12; PRO266", "gene_names_refseq": "LRRC12; SLITRK1; TTM", "protein_names_uniprotkb": "SLIT and NTRK-like protein 1; Leucine-rich repeat-containing protein 12", "protein_names_refseq": "SLIT and NTRK-like protein 1 precursor; leucine-rich repeat-containing protein 12; slit and trk like gene 1", "tax_id": 9606, "disease": "trichotillomania (Disease Ontology:DOID:0050587); Gilles de la Tourette syndrome (Disease Ontology:DOID:11119)", "pathway": " (hsa:114798); (R-HSA-388844)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "12975309;14557068;15750591;16224024;16323357;16936762;17003809;19252495;19640509;20139422;21262467;21940441;22286174;22357843;23345436;23990902;25385546;25908590;27273464;27812321;29557506;29632711;30377043;31844290;32627883;33091337;33968037;34357683;35051231;35456478;37217939;7796809;9624153", "class_list": "", "function": "Altogether, these results demonstrate that Slitrk family proteins regulate synapse formation. Publication Status: Online-Only, [RefSeq, PubMed]; Findings support the association of rare SLITRK1 sequence variants with Tourette's syndrome GeneRIF: Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; Genomic Alterations of NTRK, POLE, ERBB2, and Microsatellite Instability Status in Chinese Patients with Colorectal Cancer., [RefSeq, PubMed]; In Silico Analysis Identified Putative Pathogenic Missense nsSNPs in Human SLITRK1 Gene. Publication Status: Online-Only, [RefSeq, PubMed]; It is involved in synaptogenesis and promotes excitatory synapse differentiation (PubMed:27273464, PubMed:27812321). Enhances neuronal dendrite outgrowth (PubMed:16224024, PubMed:19640509)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; No variation in patients susceptible to obsessive-compulsive disorder.(, [RefSeq, PubMed]; Our results indicate an important influence of the neurodevelopment genes, PBX1, LMX1A, and SLITRK1 in obsessive-compulsive disorder susceptibility, [RefSeq, PubMed]; SLITRK1 trouble in Tourette's syndrome., [RefSeq, PubMed]; This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. 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": 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": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 55, "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": "Q5U5I6;Q96SF9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0045202 synapse", "go_biological_process": "GO:0007409 axonogenesis;GO:0007416 synapse assembly;GO:0051965 positive regulation of synapse assembly;GO:0050772 positive regulation of axonogenesis;GO:0099560 synaptic membrane adhesion", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q96PX8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96SA4-1", "uniprot_id": "SERC2_HUMAN", "mass": 50742.0, "length": 455, "protein_name": "Serine incorporator 2", "gene_name": "SERINC2", "organism": "Human", "refseq_name": "serine incorporator 2 isoform 3", "refseq_ac": "NP_001185966", "gene_names_uniprotkb": "SERINC2; FKSG84; PRO300; TDE2L", "gene_names_refseq": "FKSG84; PRO0899; SERINC2; TDE2L; TDE2", "protein_names_uniprotkb": "Serine incorporator 2; Tumor differentially expressed protein 2-like", "protein_names_refseq": "serine incorporator 2 isoform 3; tumor differentially expressed protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:347735); (R-HSA-977347)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "11054547;12393813;12633500;12975309;15193426;15536068;16120614;16580895;18342636;19235232;20106978;21752829;22424782;23455491;23481700;25892735;26154972;26375851;26416733;26703715;28218747;28228285;28935972;29242379;29268082;29508533;29557506;29769354;30315122;31844290;31937595;31998317;32357974;32387766;32502341;32938616;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34211107;34288243;34509645;34932366;35561310;37474505;39417376;9188776", "class_list": "", "function": "In contrast to human SERINC5(S5), we observed that human SERINC2(S2) did not restrict HIV-1, and was inefficiently incorporated into HIV-1 virions when compared to S5., [RefSeq, PubMed]; In subjects of European descent, SERINC2-NKAIN1 expression of genes is associated with alcohol dependence., [RefSeq, PubMed]; Non-ATP-dependent, non-specific lipid transporter for phosphatidylserine, phosphatidylcholine, and phosphatidylethanolamine. Functions as a scramblase that flips lipids in both directions across the membrane. In contrast to SERINC3 and SERINC5, has no effect on HIV-1 particles infectivity., [UniProtKB, PubMed]; Results suggest that the serine incorporator 2 (SERINC2) gene is a novel autism spectrum disorder (ASD) candidate gene. Publication Status: Online-Only, [RefSeq, PubMed]; SERINC2 increases the risk of bipolar disorder in the Chinese population., [RefSeq, PubMed]; SERINC2 protein localizes in lysosomes in HeLa cells, [RefSeq, PubMed]; Serinc2 Drives the Progression of Cervical Cancer Through Regulating Myc 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": 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": "A0AVB4;B4DJK5;B7Z567;B7ZAP2;E7EUZ9;Q86Y23", "ec_number_list": "3.1.-.-;1.6.5.5", "go_molecular_function": "GO:0017128 phospholipid scramblase activity;GO:0010698 acetyltransferase activator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0017121 plasma membrane phospholipid scrambling;GO:0006658 phosphatidylserine metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q96SA4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BSE5-1", "uniprot_id": "GDAH_HUMAN", "mass": 37660.0, "length": 352, "protein_name": "Guanidino acid hydrolase, mitochondrial", "gene_name": "AGMAT", "organism": "Human", "refseq_name": "guanidino acid hydrolase, mitochondrial precursor", "refseq_ac": "NP_079034", "gene_names_uniprotkb": "AGMAT; GDAH", "gene_names_refseq": "AGMAT", "protein_names_uniprotkb": "Guanidino acid hydrolase, mitochondrial; 3.5.3.-; 3.5.3.17; 3.5.3.1; 3.5.3.7; Arginase, mitochondrial; Guanidinobutyrase, mitochondrial; Guanidinopropionase, mitochondrial", "protein_names_refseq": "AUH; agmatinase, mitochondrial; agmatine ureohydrolase (agmatinase); arginase, mitochondrial; guanidino acid hydrolase, mitochondrial precursor; guanidino acid hydrolase, mitochondrial; guanidinobutyrase, mitochondrial; guanidinopropionase, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:79814); (R-HSA-351143)", "pathway_count": 2, "publication_count": 15, "publication_id_list": "11804860;11914032;14648699;14738999;25880248;29242379;29557506;30429286;32357974;34357683;35051231;35580925;36241641;36543883;36704851", "class_list": "", "function": "Agmatinase is down-regulated in the clear cell type of renal cell carcinoma, [RefSeq, PubMed]; An alternative to ornithine decarboxylase for polyamine biosynthesis, [RefSeq, PubMed]; Hydrolyzes linear guanidino acids to form urea and the corresponding amines. Displays specificity for substrates having a negatively charged head group and short chains including taurocyamine, guanidino propanoic and butanoic acids. May protect cells by detoxifying potentially harmful amounts of guanidino acids. Metabolizes L-arginine with low efficiency., [UniProtKB, PubMed]; MiR151a5p promotes the proliferation and metastasis of colorectal carcinoma cells by targeting AGMAT., [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": "Q5TDH1;Q9H5J3", "ec_number_list": "3.5.3.1;3.5.3.-;3.5.3.17;3.5.3.7", "go_molecular_function": "GO:0046872 metal ion binding;GO:0004053 arginase activity;GO:0008783 agmatinase activity;GO:0047971 guanidinobutyrase activity;GO:0047972 guanidinopropionase activity", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0000050 urea cycle;GO:0097055 agmatine biosynthetic process;GO:0033389 putrescine biosynthetic process from arginine, via agmatine", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9BSE5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BWW7-1", "uniprot_id": "SCRT1_HUMAN", "mass": 35554.0, "length": 348, "protein_name": "Transcriptional repressor scratch 1", "gene_name": "SCRT1", "organism": "Human", "refseq_name": "transcriptional repressor scratch 1", "refseq_ac": "NP_112599", "gene_names_uniprotkb": "SCRT1", "gene_names_refseq": "SCRT1; SCRT; ZNF898", "protein_names_uniprotkb": "Transcriptional repressor scratch 1; SCRT; Scratch 1; Scratch homolog 1 zinc finger protein; hScrt", "protein_names_refseq": "scratch family zinc finger 1; scratch homolog 1, zinc finger protein; transcriptional repressor scratch 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:83482)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11274425;28218747;33309639;33888791;37141697", "class_list": "", "function": "Long non-coding RNA TCL6 induced by SCRT1 promotes proliferation and metastasis of non-small cell lung cancer through PDK1/AKT signaling., [RefSeq, PubMed]; SCRT1 is a novel beta cell transcription factor with insulin regulatory properties., [RefSeq, PubMed]; Scrt1, a transcriptional regulator of beta-cell proliferation identified by differential chromatin accessibility during islet maturation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a C2H2-type zinc finger transcriptional repressor that binds to E-box motifs. The encoded protein may promote neural differention and may be involved in cancers with neuroendocrine features. [provided by RefSeq, Jul 2013]., [RefSeq]; Transcriptional repressor that binds E-box motif CAGGTG. Can modulate the action of basic helix-loop-helix (bHLH) transcription factors, critical for neuronal differentiation., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A8MX66;Q96C52", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA 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:0016604 nuclear body", "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": 0.6, "record_id": "Q9BWW7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQF3-1", "uniprot_id": "SERHL_HUMAN", "mass": 22471.0, "length": 203, "protein_name": "Serine hydrolase-like protein", "gene_name": "SERHL", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "SERHL; SERHL2", "gene_names_refseq": "", "protein_names_uniprotkb": "Serine hydrolase-like protein; 3.1.-.-; SHL", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Putative serine hydrolase., [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": "Q5JZ95;Q9UH21", "ec_number_list": "", "go_molecular_function": "GO:0016787 hydrolase activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q9NQF3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UJQ7-1", "uniprot_id": "SCP2D_HUMAN", "mass": 17663.0, "length": 156, "protein_name": "SCP2 sterol-binding domain-containing protein 1", "gene_name": "SCP2D1", "organism": "Human", "refseq_name": "SCP2 sterol-binding domain-containing protein 1", "refseq_ac": "NP_848578", "gene_names_uniprotkb": "SCP2D1; C20orf79", "gene_names_refseq": "C20orf79; HSD22; SCP2D1; dJ1068E13.2", "protein_names_uniprotkb": "SCP2 sterol-binding domain-containing protein 1", "protein_names_refseq": "SCP2 sterol-binding domain-containing protein 1; sterol carrier protein 2-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:140856)", "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": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q548A4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q9UJQ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6L6-1", "uniprot_id": "SO1B1_HUMAN", "mass": 76449.0, "length": 691, "protein_name": "Solute carrier organic anion transporter family member 1B1", "gene_name": "SLCO1B1", "organism": "Human", "refseq_name": "solute carrier organic anion transporter family member 1B1", "refseq_ac": "NP_006437", "gene_names_uniprotkb": "SLCO1B1; LST1; OATP1B1; OATP2; OATPC; SLC21A6", "gene_names_refseq": "HBLRR; LST-1; OATP-C; OATP1B1; OATP2; OATPC; SLC21A6; SLCO1B1", "protein_names_uniprotkb": "Solute carrier organic anion transporter family member 1B1; LST-1; Liver-specific organic anion transporter 1; OATP-2; OATP-C; Organic anion transporter SLC21A6; SLCO1B1; Sodium-independent organic anion-transporting polypeptide 2; Solute carrier family 21 member 6", "protein_names_refseq": "OATP-2; liver-specific organic anion transporter 1; organic anion transporter SLC21A6; sodium-independent organic anion-transporting polypeptide 2; solute carrier family 21 (organic anion transporter), member 6; solute carrier organic anion transporter family member 1B1", "tax_id": 9606, "disease": "cholestasis (Disease Ontology:DOID:13580); bilirubin metabolic disorder (Disease Ontology:DOID:2741); liver cancer (Disease Ontology:DOID:3571); Rotor syndrome (MONDO:MONDO:0009379)", "pathway": " (hsa:10599); (R-HSA-159418); (R-HSA-189483); (R-HSA-5619110); (R-HSA-879518); (R-HSA-9754706)", "pathway_count": 6, "publication_count": 97, "publication_id_list": "10334992;10334993;10358072;10421658;10601278;10620517;10644574;10779507;10873595;10884298;10987286;11023036;11038166;11134001;11159893;11316767;11387316;11397817;11477075;11483603;1157293;11870371;11950779;11980911;12130747;12196548;12220224;12351693;12393883;12404239;12404240;12486725;12568656;12663868;12704183;12815072;13416382;14699511;14993604;15001581;15159445;15245331;15497697;15801541;15970799;16317684;16541101;16624871;16627748;16908160;16971491;17412826;17650074;18720283;19129463;19794410;19797118;20166139;2037576;21278621;21852972;22232210;22823425;23018617;23243220;23285087;23337244;23531488;23562342;24275569;24799396;25527620;26383540;26412035;26979622;26992070;27862975;29557506;29769354;30343886;31154438;34045219;35051231;35307651;37074911;38279097;38405139;38515340;4980931;7077161;7372607;7557095;7588781;8034703;8132774;8787677;9414488", "class_list": "", "function": "Associations between UGT1A1, SLCO1B1, SLCO1B3, BLVRA and HMOX1 polymorphisms and susceptibility to neonatal severe hyperbilirubinemia in Chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates the Na(+)-independent uptake of organic anions (PubMed:10358072, PubMed:15159445, PubMed:17412826). Shows broad substrate specificity, can transport both organic anions such as bile acid taurocholate (cholyltaurine) and conjugated steroids (dehydroepiandrosterone 3-sulfate, 17-beta-glucuronosyl estradiol, and estrone 3-sulfate), as well as eicosanoids (prostaglandin E2, thromboxane B2, leukotriene C4, and leukotriene E4), and thyroid hormones (T4/L-thyroxine, and T3/3,3',5'-triiodo-L-thyronine) (PubMed:10358072, PubMed:10601278, PubMed:10873595, PubMed:11159893, PubMed:12196548, PubMed:12568656, PubMed:15159445, PubMed:15970799, PubMed:16627748, PubMed:17412826, PubMed:19129463, PubMed:26979622). Can take up bilirubin glucuronides from plasma into the liver, contributing to the detoxification-enhancing liver-blood shuttling loop (PubMed:22232210). Involved in the clearance of endogenous and exogenous substrates from the liver (PubMed:10358072, PubMed:10601278). Transports coproporphyrin I and III, by-products of heme synthesis, and may be involved in their hepatic disposition (PubMed:26383540). May contribute to regulate the transport of organic compounds in testes across the blood-testis-barrier (Probable). Can transport HMG-CoA reductase inhibitors (also known as statins), such as pravastatin and pitavastatin, a clinically important class of hypolipidemic drugs (PubMed:10601278, PubMed:15159445, PubMed:15970799). May play an important role in plasma and tissue distribution of the structurally diverse chemotherapeutic drug methotrexate (PubMed:23243220). May also transport antihypertension agents, such as the angiotensin-converting enzyme (ACE) inhibitor prodrug enalapril, and the highly selective angiotensin II AT1-receptor antagonist valsartan, in the liver (PubMed:16624871, PubMed:16627748). Shows a pH-sensitive substrate specificity towards prostaglandin E2 and T4 which may be ascribed to the protonation state of the binding site and leads to a stimulation of substrate transport in an acidic microenvironment (PubMed:19129463). Hydrogencarbonate/HCO3(-) acts as the probable counteranion that exchanges for organic anions (PubMed:19129463)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Non-targeted metabolomics for the identification of plasma metabolites associated with organic anion transporting polypeptide 1B1 function., [RefSeq, PubMed]; The impact of SLCO1B1 rs4149056 on LDL-C target achievement after lipid lowering therapy optimization in men and women with familial hypercholesterolemia. Publication Status: Online-Only, [RefSeq, PubMed]; The promoter of SLC21A6 gene was characterized and regulated by HNF 1alpha., [RefSeq, PubMed]; This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "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": 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": 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": 7, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 3, "disease_count": 4, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B2R7G2;Q29R64;Q9NQ37;Q9UBF3;Q9UH89", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015125 bile acid transmembrane transporter activity;GO:0015349 thyroid hormone transmembrane transporter activity;GO:0015291 secondary active transmembrane transporter activity;GO:0015132 prostaglandin transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0009925 basal plasma membrane", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0015721 bile acid and bile salt transport;GO:0006805 xenobiotic metabolic process;GO:0015711 organic anion transport;GO:0043252 sodium-independent organic anion transport", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q9Y6L6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1B0GVQ0-1", "uniprot_id": "SPAR_HUMAN", "mass": 9632.0, "length": 90, "protein_name": "Small regulatory polypeptide of amino acid response", "gene_name": "SPAAR", "organism": "Human", "refseq_name": "small regulatory polypeptide of amino acid response", "refseq_ac": "NP_001335036", "gene_names_uniprotkb": "SPAAR; LINC00961; SPAR", "gene_names_refseq": "LINC00961; SPAAR; SPAR", "protein_names_uniprotkb": "Small regulatory polypeptide of amino acid response", "protein_names_refseq": "long intergenic non-protein coding RNA 961; small regulatory polypeptide of amino acid response; small regulatory polypeptide of amino acids response", "tax_id": 9606, "disease": "", "pathway": " (hsa:158376)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "28024296;29156520;30070327;30367453;31990292;32045135;34946813;35244469;35656895", "class_list": "", "function": "Data provide a mechanism by which mTORC1 activation may be finely regulated in a tissue-specific manner in response to injury, and a paradigm by which lncRNAs encoding small polypeptides like SPAR can modulate general biological pathways and processes to facilitate tissue-specific requirements, consistent with their restricted and highly regulated expression profile, [RefSeq, PubMed]; Decreased LINC00961 might play a key role in non-small cell lung cancer (NSCLC) progression, and may serve as a novel prognostic marker in human NSCLC, [RefSeq, PubMed]; Dysregulated LINC00961 Contributes to the Vitality and Migration of NSCLC Via miR-19a-3p/miR-19b-3p/miR-125b-5p., [RefSeq, PubMed]; Evolutionary Characterization of the Short Protein SPAAR. Publication Status: Online-Only, [RefSeq, PubMed]; LINC00961 inhibits the migration and invasion of colon cancer cells by sponging miR-223-3p and targeting SOX11., [RefSeq, PubMed]; LINC00961 is involved in renal cell carcinoma progression by targeting the epithelial-mesenchymal transition pathway., [RefSeq, PubMed]; LncRNA LINC00961 regulates endothelialmesenchymal transition via the PTENPI3KAKT pathway., [RefSeq, PubMed]; Negative regulator of amino acid sensing and mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels and amino acids (PubMed:28024296). Negatively regulates mTORC1 activation by inhibiting recruitment of mTORC1 to lysosomes upon stimulation with amino acids: acts by promoting the formation of a tightly bound supercomplex composed of the lysosomal V-ATPase, Ragulator and Rag GTPases, preventing recruitment of mTORC1 (PubMed:28024296). Acts as a regulator of muscle regeneration following injury by regulating mTORC1 activation (By similarity)., [UniProtKB, PubMed, UniProtKB]; Overexpression of LINC00961 significantly suppressed glioma cells proliferation, migration, and invasion. Mechanistically, we found that overexpression of LINC00961 inhibited glioma cell epithelial-mesenchymal transition ., [RefSeq, PubMed]; The LINC00961 transcript and its encoded micropeptide, small regulatory polypeptide of amino acid response, regulate endothelial cell function., [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:0005765 lysosomal membrane;GO:0031902 late endosome membrane", "go_biological_process": "GO:0071230 cellular response to amino acid stimulus;GO:0043416 regulation of skeletal muscle tissue regeneration;GO:1904262 negative regulation of TORC1 signaling", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "A0A1B0GVQ0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "B2RUZ4-1", "uniprot_id": "SMIM1_HUMAN", "mass": 8749.0, "length": 78, "protein_name": "Small integral membrane protein 1", "gene_name": "SMIM1", "organism": "Human", "refseq_name": "small integral membrane protein 1", "refseq_ac": "NP_001157196", "gene_names_uniprotkb": "SMIM1", "gene_names_refseq": "SMIM1; Vel", "protein_names_uniprotkb": "Small integral membrane protein 1; Vel blood group antigen", "protein_names_refseq": "bloodgroup VEL protein; small integral membrane protein 1; vel blood group antigen", "tax_id": 9606, "disease": "obsolete blood group, vel system (MONDO:MONDO:0044282)", "pathway": " (hsa:388588)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;18669648;23505126;23563606;23563608;24275569;25647324;26452714;31879955;32301496;32938616;33128268;35580925;38906141", "class_list": "", "function": "A cohort of 70 Vel- individuals was found to be uniformly homozygous for a 17 nucleotide deletion in the coding sequence of SMIM1., [RefSeq, PubMed]; Dimerization of small integral membrane protein 1 promotes cell surface presentation of the Vel blood group epitope., [RefSeq, PubMed]; Loss of SMIM1 is associated with reduction in red blood cell formation., [RefSeq, PubMed, PubMed]; Regulator of red blood cell formation., [UniProtKB, UniProtKB]; SMIM1 absence is associated with reduced energy expenditure and excess weight., [RefSeq, PubMed]; SMIM1 missense mutations exert their effect on wild type Vel expression late in erythroid differentiation., [RefSeq, PubMed]; SMIM1, carrier of the Vel blood group, is a tail-anchored transmembrane protein and readily forms homodimers in a cell-free system., [RefSeq, PubMed]; This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013]., [RefSeq]; Weak Vel expression levels are caused by multiple genetic factors in SMIM1 and probably also by other genetic or environmental factors., [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": 7, "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:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0048823 nucleate erythrocyte development", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "B2RUZ4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BT56-1", "uniprot_id": "SPXN_HUMAN", "mass": 13302.0, "length": 116, "protein_name": "Spexin", "gene_name": "SPX", "organism": "Human", "refseq_name": "spexin precursor", "refseq_ac": "NP_085049", "gene_names_uniprotkb": "SPX; C12orf39", "gene_names_refseq": "C12orf39; SPX1; SPX", "protein_names_uniprotkb": "Spexin; NPQ 53-70; NPQ; Neuropeptide Q; Spexin hormone", "protein_names_refseq": "NPQ; neuropeptide Q; spexin precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:80763)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;17284679;18160138;19132080;19193193;22038051;23080164;24517231;24550067;29557506;31611695;32350084;35251023;35334196;36914115;37658762;38072893;38919263", "class_list": "", "function": "Acts as a ligand for galanin receptors GALR2 and GALR3 (PubMed:17284679, PubMed:24517231). Intracerebroventricular administration of the peptide induces an increase in arterial blood pressure, a decrease in both heart rate and renal excretion and delayed natriuresis. Intraventricular administration of the peptide induces antinociceptive activity. Also induces contraction of muscarinic-like stomach smooth muscles. Intraperitoneal administration of the peptide induces a reduction in food consumption and body weight. Inhibits long chain fatty acid uptake into adipocytes (By similarity)., [UniProtKB, PubMed, PubMed]; Data from ligand-receptor interaction studies suggest that human spexin-1 and zebrafish spexin-2 activate galanin receptors GALR2/GALR3 (but not GALR1); thus spexins appear to be natural ligands for human/Xenopus/zebrafish GALR2/GALR3., [RefSeq, PubMed]; Intracerebroventricular administration of the peptide induces a decrease in heart rate, but no change in arterial pressure, and an increase in urine flow rate. Intraventricular administration of the peptide induces antinociceptive activity (By similarity)., [UniProtKB]; Newly identified peptides derived from the NPQ/spexin precursor contribute to CNS-mediated control of arterial blood pressure and salt and water balance and modulate nociceptive responses, [RefSeq, PubMed]; Normalization of Spexin Levels in Patients with Obesity Submitted to Bariatric Surgery., [RefSeq, PubMed]; Plays a role as a central modulator of cardiovascular and renal function and nociception. Also plays a role in energy metabolism and storage. Inhibits adrenocortical cell proliferation with minor stimulation on corticosteroid release (By similarity)., [UniProtKB]; Serum Spexin Level Is Negatively Associated With Peripheral Neuropathy and Sensory Pain in Type 2 Diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; Serum spexin levels are not associated with size at birth but are associated with metabolic syndrome components in prepubertal children born at term. Publication Status: Online-Only, [RefSeq, PubMed]; Spexin role in human granulosa cells physiology and PCOS: expression and negative impact on steroidogenesis and proliferationdagger., [RefSeq, PubMed]; Taken together, although C12ORF39 is not a secreted small peptide, it can also be secreted to play a role in the biological functions of the placenta. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a hormone involved in modulation of cardiovascular and renal function. It has also been shown in rats to cause weight loss. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]., [RefSeq]; The role of spexin in energy metabolism. 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": 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": "B3KND6", "ec_number_list": "", "go_molecular_function": "GO:0005184 neuropeptide hormone activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0030133 transport vesicle;GO:0031045 dense core granule;GO:0005576 extracellular region", "go_biological_process": "GO:0003084 positive regulation of systemic arterial blood pressure;GO:0035814 negative regulation of renal sodium excretion;GO:0051930 regulation of sensory perception of pain;GO:0044539 long-chain fatty acid import into cell;GO:0010459 negative regulation of heart rate", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9BT56-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15370-1", "uniprot_id": "SOX12_HUMAN", "mass": 34122.0, "length": 315, "protein_name": "Transcription factor SOX-12", "gene_name": "SOX12", "organism": "Human", "refseq_name": "transcription factor SOX-12", "refseq_ac": "NP_008874", "gene_names_uniprotkb": "SOX12; SOX22", "gene_names_refseq": "SOX12; SOX22", "protein_names_uniprotkb": "Transcription factor SOX-12; Protein SOX-22", "protein_names_refseq": "SOX-22 protein; SRY (sex determining region Y)-box 12; SRY-box 12; SRY-related HMG-box gene 22; transcription factor SOX-12", "tax_id": 9606, "disease": "", "pathway": " (hsa:6666)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "185058;23481700;25505266;25892735;26024233;27846572;27920218;28228285;28834231;29557506;29769354;31844290;32157095;32938616;33091337;33691108;33968037;34171305;34868396;35022519;35051231;35154160;35256570;36266695;39184399;9215677", "class_list": "", "function": "Functional analysis of the orthologous mouse gene., [RefSeq, PubMed]; Identification of SOX6 and SOX12 as Prognostic Biomarkers for Clear Cell Renal Cell Carcinoma: A Retrospective Study Based on TCGA Database. Publication Status: Online-Only, [RefSeq, PubMed]; LINC01063 functions as an oncogene in melanoma through regulation of miR-5194-mediated SOX12 expression., [RefSeq, PubMed]; LncRNA CASC9 promotes cell proliferation and invasion in osteosarcoma through targeting miR-874-3p/SOX12 axis. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA H19 Promotes Gastric Cancer Metastasis via miR-148-3p/SOX-12 Axis. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA UCA1 promotes SOX12 expression in breast cancer by regulating m(6)A modification of miR-375 by METTL14 through DNA methylation., [RefSeq, PubMed]; Members of the SOX family of transcription factors are characterized by the presence of a DNA-binding high mobility group (HMG) domain, homologous to the HMG box of sex-determining region Y (SRY). Forming a subgroup of the HMG domain superfamily, SOX proteins have been implicated in cell fate decisions in a diverse range of developmental processes. SOX transcription factors have diverse tissue-specific expression patterns during early development and have been proposed to act as target-specific transcription factors and/or as chromatin structure regulatory elements. The protein encoded by this gene was identified as a SOX family member based on conserved domains, and its expression in various tissues suggests a role in both differentiation and maintenance of several cell types. [provided by RefSeq, Jan 2013]., [RefSeq]; Transcription factor that binds to DNA at the consensus sequence 5'-ACCAAAG-3' (By similarity). Acts as a transcriptional activator (By similarity). Binds cooperatively with POU3F2/BRN2 or POU3F1/OCT6 to gene promoters, which enhances transcriptional activation (By similarity). Involved in the differentiation of naive CD4-positive T-cells into peripherally induced regulatory T (pT reg) cells under inflammatory conditions (By similarity). Binds to the promoter region of the FOXP3 gene and promotes its transcription, and might thereby contribute to pT reg cell differentiation in the spleen and lymph nodes during inflammation (By similarity). Plays a redundant role with SOX4 and SOX11 in cell survival of developing tissues such as the neural tube, branchial arches and somites, thereby contributing to organogenesis (By similarity)., [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": 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": "Q5D038;Q9NUD4", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0032993 protein-DNA complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0021510 spinal cord development;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "O15370-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C7V6-1", "uniprot_id": "SP202_HUMAN", "mass": 87541.0, "length": 817, "protein_name": "Transcription factor SPT20 homolog-like 2", "gene_name": "SUPT20HL2", "organism": "Human", "refseq_name": "transcription factor SPT20 homolog-like 2", "refseq_ac": "NP_001129705", "gene_names_uniprotkb": "SUPT20HL2; FAM48B2", "gene_names_refseq": "FAM48B1; FAM48B2; SUPT20HL2", "protein_names_uniprotkb": "Transcription factor SPT20 homolog-like 2", "protein_names_refseq": "SPT20 homolog, SAGA complex component-like 2; family with sequence similarity 48, member B1; family with sequence similarity 48, member B2; putative protein FAM48B2; putative transcription factor SPT20 homolog-like 2; suppressor of Ty 20 homolog-like 2; transcription factor SPT20 homolog-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:170067)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "29557506;31844290;32938616", "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": 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:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0000124 SAGA complex", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "P0C7V6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P41225-1", "uniprot_id": "SOX3_HUMAN", "mass": 45210.0, "length": 446, "protein_name": "Transcription factor SOX-3", "gene_name": "SOX3", "organism": "Human", "refseq_name": "transcription factor SOX-3", "refseq_ac": "NP_005625", "gene_names_uniprotkb": "SOX3", "gene_names_refseq": "GHDX; MRGH; PHPX; PHP; SOX3; SOXB", "protein_names_uniprotkb": "Transcription factor SOX-3", "protein_names_refseq": "SRY (sex determining region Y)-box 3; SRY-box 3; transcription factor SOX-3", "tax_id": 9606, "disease": "X-linked hypoparathyroidism (Disease Ontology:DOID:0111388); 46,XX sex reversal 3 (Disease Ontology:DOID:0111762); X-linked panhypopituitarism (Disease Ontology:DOID:0111779); hydrocephalus (Disease Ontology:DOID:10908); intellectual disability, X-linked, with panhypopituitarism (MONDO:MONDO:0010252)", "pathway": " (hsa:6658); (R-HSA-3769402)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10549281;10898789;10921920;10944533;11691915;12408824;12408825;12428212;12712206;14600025;14685266;15132997;15327769;15525529;15800844;1614875;16167084;16510874;17218525;17412698;17698607;17875931;18378692;18456656;18573912;18598779;18819930;19047045;19364920;19590513;19664995;19928349;19940019;21183788;22304967;22661428;24291232;28832583;29242379;30410026;30429286;31154438;31217245;31844290;32983136;34342803;34357683;35051231;35561310;36010968;36175695;37216008;37749917;38927713;39109770;8111369", "class_list": "", "function": "A complex structural variant near SOX3 causes X-linked split-hand/foot malformation. Publication Status: Online-Only, [RefSeq, PubMed]; Clinical Correlation of Transcription Factor SOX3 in Cancer: Unveiling Its Role in Tumorigenesis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Do SOD2 and SOD3 gene polymorphisms impact the oral health-related quality of life in Para athletes? Publication Status: Online-Only, [RefSeq, PubMed]; ROR2 deficit may induce the tetralogy of Fallot via down-regulating of beta-catenin/SOX3/HSPA6 in vitro and in vivo., [RefSeq, PubMed]; This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked cognitive disability with growth hormone deficiency. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor SOX3 upregulated pro-apoptotic genes expression in human breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. Required also within the pharyngeal epithelia for craniofacial morphogenesis. Controls a genetic switch in male development. Is necessary for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity)., [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": 2, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "P35714;Q5JWI3;Q9NP49", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA 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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0007530 sex determination;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045665 negative regulation of neuron differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "P41225-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P48436-1", "uniprot_id": "SOX9_HUMAN", "mass": 56137.0, "length": 509, "protein_name": "Transcription factor SOX-9", "gene_name": "SOX9", "organism": "Human", "refseq_name": "transcription factor SOX-9", "refseq_ac": "NP_000337", "gene_names_uniprotkb": "SOX9", "gene_names_refseq": "CMD1; CMPD1; ENH13; SOX9; SRA1; SRXX2; SRXY10; TESCO", "protein_names_uniprotkb": "Transcription factor SOX-9", "protein_names_refseq": "SRY (sex determining region Y)-box9; SRY (sex-determining region Y)-box 9 protein; SRY-box 9; SRY-related HMG-box, gene 9; transcription factor SOX-9", "tax_id": 9606, "disease": "campomelic dysplasia (Disease Ontology:DOID:0050463); 46,XX sex reversal 2 (Disease Ontology:DOID:0111763); 46,XY sex reversal 10 (Disease Ontology:DOID:0111775); lung cancer (Disease Ontology:DOID:1324); lung carcinoma (Disease Ontology:DOID:3905)", "pathway": " (hsa:6662); (R-HSA-3769402); (R-HSA-8878166); (R-HSA-9690406); (R-HSA-9856649); (R-HSA-9925561); (R-HSA-9925563); (R-HSA-9937080)", "pathway_count": 8, "publication_count": 206, "publication_id_list": "10446171;10549281;10567402;10611221;10655586;10673502;10805756;10898789;10921920;10944533;10951468;11027551;11207191;11278460;11323423;11691915;11754051;11840323;11857736;11891324;11912130;11930005;12391164;12408824;12408825;12434152;12434156;12712206;12732631;12783851;14600025;14685266;14975237;15030764;15118077;15132997;15226305;15327769;15466490;15507434;15525529;15889150;16014379;16034366;16407259;16510874;16822840;1698554;17142326;17171635;17218525;17412698;1748288;17623675;17698607;17875931;18223689;18378692;18445271;18456656;18573912;18598779;18644867;18819930;19033726;19047045;19144722;19364920;19470758;19524539;19590513;19608861;19921652;19928349;19940019;20039424;20460180;20513132;21208124;21412441;21486943;21913213;21965087;22065775;22304967;22544321;22647378;22899867;23159739;23190890;23207919;23481700;24038782;24291232;24715725;24850862;25248477;25576301;25595898;25604083;25645385;25880248;25892735;26154972;26375851;26758079;26992070;27128622;27397612;27566146;27571710;27625374;27846572;27862975;27920218;27929080;28228285;28263186;28394346;28472341;28832583;28834231;29242379;29295999;29331515;29508533;29557506;29786170;29789417;30315122;30410026;30429286;30552336;30779550;30804224;30833945;31154438;31194875;31217245;31222486;31382142;31779679;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32488085;32502341;32636443;32938616;33123756;33141586;33214551;33298915;33592498;33633747;33691108;33744299;33912179;33936100;33968037;33981976;34019948;34140478;34171305;34342803;34405274;34561969;34932366;35051231;35318648;35580925;36241641;36284347;37770430;37938771;38665916;38729556;38862362;39531497;39534244;40136647;5338216;7485151;7958932;7990924;8001137;8336698;8640233;9002675;9143916;9182764;9199364;9207800;9353119;9440696;9452059;9560246;9676189;9760192;9774680;9815658;9973413", "class_list": "", "function": "SOX9 immunosuppression in primary colorectal cancer tumors with lymph node metastasis., [RefSeq, PubMed]; SOX9 is regulated by AURKA in response to Helicobacter pylori infection via EIF4E-mediated cap-dependent translation., [RefSeq, PubMed]; The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that plays a key role in chondrocytes differentiation and skeletal development (PubMed:24038782). Specifically binds the 5'-ACAAAG-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes COL2A1, COL4A2, COL9A1, COL11A2 and ACAN, SOX5 and SOX6 (PubMed:8640233). Also binds to some promoter regions (By similarity). Plays a central role in successive steps of chondrocyte differentiation (By similarity). Absolutely required for precartilaginous condensation, the first step in chondrogenesis during which skeletal progenitors differentiate into prechondrocytes (By similarity). Together with SOX5 and SOX6, required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes, the second step in chondrogenesis (By similarity). Later, required to direct hypertrophic maturation and block osteoblast differentiation of growth plate chondrocytes: maintains chondrocyte columnar proliferation, delays prehypertrophy and then prevents osteoblastic differentiation of chondrocytes by lowering beta-catenin (CTNNB1) signaling and RUNX2 expression (By similarity). Also required for chondrocyte hypertrophy, both indirectly, by keeping the lineage fate of chondrocytes, and directly, by remaining present in upper hypertrophic cells and transactivating COL10A1 along with MEF2C (By similarity). Low lipid levels are the main nutritional determinant for chondrogenic commitment of skeletal progenitor cells: when lipids levels are low, FOXO (FOXO1 and FOXO3) transcription factors promote expression of SOX9, which induces chondrogenic commitment and suppresses fatty acid oxidation (By similarity). Mechanistically, helps, but is not required, to remove epigenetic signatures of transcriptional repression and deposit active promoter and enhancer marks at chondrocyte-specific genes (By similarity). Acts in cooperation with the Hedgehog pathway-dependent GLI (GLI1 and GLI3) transcription factors (By similarity). In addition to cartilage development, also acts as a regulator of proliferation and differentiation in epithelial stem/progenitor cells: involved in the lung epithelium during branching morphogenesis, by balancing proliferation and differentiation and regulating the extracellular matrix (By similarity). Controls epithelial branching during kidney development (By similarity)., [UniProtKB, PubMed, 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": 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": 9, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 70, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q53Y80", "ec_number_list": "", "go_molecular_function": "GO:0097157 pre-mRNA intronic binding;GO:0034236 protein kinase A catalytic subunit binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin;GO:0032991 protein-containing complex", "go_biological_process": "GO:2000020 positive regulation of male gonad development;GO:0046533 negative regulation of photoreceptor cell differentiation;GO:0001708 cell fate specification;GO:1904864 negative regulation of beta-catenin-TCF complex assembly;GO:0003170 heart valve development", "synthesized_glycan_count": 0, "hit_score": 21.6, "record_id": "P48436-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q07617-1", "uniprot_id": "SPAG1_HUMAN", "mass": 103639.0, "length": 926, "protein_name": "Sperm-associated antigen 1", "gene_name": "SPAG1", "organism": "Human", "refseq_name": "sperm-associated antigen 1", "refseq_ac": "NP_003105", "gene_names_uniprotkb": "SPAG1", "gene_names_refseq": "CILD28; CT140; DNAAF13; HEL-S-268; HSD-3.8; SP75; SPAG1; TPIS", "protein_names_uniprotkb": "Sperm-associated antigen 1; HSD-3.8; Infertility-related sperm protein Spag-1", "protein_names_refseq": "TPR-containing protein involved in spermatogenesis; dynein axonemal assembly factor 13; epididymis secretory protein Li 268; infertility-related sperm protein Spag-1; sperm-associated antigen 1; tetratricopeptide repeat-containing protein", "tax_id": 9606, "disease": "primary ciliary dyskinesia 28 (Disease Ontology:DOID:0110607)", "pathway": " (hsa:6674)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "11517287;1299558;16983343;18669648;24055112;24275569;25576301;25880248;25892735;26375851;26992070;27920218;28228285;28832583;28834231;28904123;29242379;29331515;29632046;29769354;30315122;30379171;30410026;30779550;31217245;31530632;31844290;32157095;32350084;32357974;32502341;32619574;32938616;32983136;33298915;33717175;33739091;33912179;33968037;33981976;34087483;34185709;34357683;35051231;35178554;35227274;35951456;38740147", "class_list": "", "function": "Bioinformatics analysis of the genes involved in the extension of prostate cancer to adjacent lymph nodes by supervised and unsupervised machine learning methods: The role of SPAG1 and PLEKHF2., [RefSeq, PubMed]; Comprehensive analysis of SPAG1 expression as a prognostic and predictive biomarker in acute myeloid leukemia by integrative bioinformatics and clinical validation. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in the cytoplasmic assembly of the ciliary dynein arms (By similarity). May play a role in fertilization. Binds GTP and has GTPase activity., [UniProtKB, PubMed, PubMed]; Optimizing the First TPR Domain of the Human SPAG1 Protein Provides Insight into the HSP70 and HSP90 Binding Properties., [RefSeq, PubMed]; SPAG1 promotes the development of AML by activating the ERK/MAPK signaling pathway and affects the chemotherapy sensitivity of venetoclax., [RefSeq, PubMed]; The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. [provided by RefSeq, Jul 2008]., [RefSeq]; The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia., [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": 21, "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": "A6NP70;B3KQ58;G3XAM3;Q7Z5G1", "ec_number_list": "", "go_molecular_function": "GO:0005525 GTP binding;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0120293 dynein axonemal particle", "go_biological_process": "GO:0007338 single fertilization;GO:0050821 protein stabilization;GO:0070286 axonemal dynein complex assembly", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q07617-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16842-1", "uniprot_id": "SIA4B_HUMAN", "mass": 40173.0, "length": 350, "protein_name": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2", "gene_name": "ST3GAL2", "organism": "Human", "refseq_name": "CMP-N-acetylneuraminate-beta-galactosamide- alpha-2,3-sialyltransferase 2", "refseq_ac": "NP_008858", "gene_names_uniprotkb": "ST3GAL2; SIAT4B", "gene_names_refseq": "Gal-NAc6S; SIAT4B; ST3GAL2; ST3GALII; ST3GalA.2", "protein_names_uniprotkb": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2; 2.4.3.2; 2.4.3.4; Alpha 2,3-ST 2; Beta-galactoside alpha-2,3-sialyltransferase 2; Gal-NAc6S; Gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferase; Monosialoganglioside sialyltransferase; SIAT4-B; ST3Gal II; ST3GalA.2; ST3GalII; Sialyltransferase 4B", "protein_names_refseq": "CMP-N-acetylneuraminate-beta-galactosamide- alpha-2,3-sialyltransferase 2; Gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferase; SIAT4-B; ST3Gal II; alpha 2,3-ST 2; beta-galactoside alpha-2,3-sialyltransferase 2; monosialoganglioside sialyltransferase; sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:6483); (R-HSA-2022854); (R-HSA-4085001); (R-HSA-9683673); (R-HSA-9694548); (R-HSA-9694719); (R-HSA-977068); (R-HSA-9840309)", "pathway_count": 8, "publication_count": 153, "publication_id_list": "10191093;10206952;10330343;10334995;10405317;10431835;10491328;10504389;10536037;10581036;10601645;10742600;10748143;10749855;10861246;10947946;10993897;11018043;11030741;11042166;11042394;11062056;11279095;11283017;11528398;11588157;11602804;11751519;11821425;11901181;11916006;11956206;12177386;12218059;12222957;12235148;12473780;12504121;12603328;12668675;12716912;12743242;12815231;12888565;14962670;15136692;15213228;15466199;15486459;15501818;15560372;15576474;15620693;1601877;16147865;16237198;16319059;16474139;16934889;17021253;17123352;1714903;1756715;18632803;19797320;20547865;21081508;2118655;22692205;22735313;22915798;23290777;2373995;23746551;23882130;24190977;24498430;25645385;25916169;26375851;27920218;28228285;28698248;28832583;28834231;28904123;29242379;29314611;29393594;29557506;29741879;29769354;29786170;29802621;30315122;31154438;3136930;31611695;31844290;32350084;32357974;32363391;32366695;32518941;32676595;32983136;33310888;33691108;33936100;33968037;34117209;34171305;34185709;34357683;34428449;34528721;34599882;34932366;34961524;34982351;35154160;35251023;35318648;35507766;36010968;36284347;38034954;38253038;7252518;7559389;7876235;7890749;7986008;8333853;8591035;8611500;8631981;8643456;8830034;8910600;8920913;8985184;9010752;9030544;9125199;9199191;9266697;9405439;9417100;9582303;9597550;9822625;9826427", "class_list": "glycogene;glycosyltransferase", "function": "A beta-galactoside alpha2-3 sialyltransferase primarily involved in terminal sialylation of ganglio and globo series glycolipids (PubMed:8920913, PubMed:9266697). Catalyzes the transfer of sialic acid (N-acetyl-neuraminic acid; Neu5Ac) from the nucleotide sugar donor CMP-Neu5Ac onto acceptor Galbeta-(1->3)-GalNAc-terminated glycoconjugates through an alpha2-3 linkage (PubMed:25916169, PubMed:8920913, PubMed:9266697). Sialylates GM1/GM1a, GA1/asialo-GM1 and GD1b gangliosides to form GD1a, GM1b and GT1b, respectively (PubMed:8920913, PubMed:9266697). Together with ST3GAL3, primarily responsible for biosynthesis of brain GD1a and GT1b that function as ligands for myelin-associated glycoprotein MAG on axons, regulating MAG expression and axonal myelin stability and regeneration (By similarity). Via GT1b regulates TLR2 signaling in spinal cord microglia in response to nerve injury (By similarity). Responsible for the sialylation of the pluripotent stem cell- and cancer stem cell-associated antigen SSEA3, forming SSEA4 (PubMed:12716912). Sialylates with low efficiency asialofetuin, presumably onto O-glycosidically linked Galbeta-(1->3)-GalNAc-O-Ser (PubMed:25916169, PubMed:9266697)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Data suggest that ganglioside glycosyltransferases ST3GAL5, ST8SIA1, and B4GALNT1 are S-acylated at conserved cysteine residues located close to cytoplasmic border of their transmembrane domains; ST3Gal-II is acylated at conserved cysteine residue in N-terminal cytoplasmic tail; for B4GALNT1 and ST3Gal-II, dimer formation controls their S-acylation status. Publication Status: Online-Only, [RefSeq, PubMed]; Genomic structure, expression, and transcriptional regulation of ST3GALII., [RefSeq, PubMed]; Overlapping and unique substrate specificities of ST3GAL1 and 2 during hematopoietic and megakaryocytic differentiation., [RefSeq, PubMed]; ST3Gal II is a MSGb5 (stage-specific embryonic antigen-4) synthase and its increased expression level is closely related to renal carcinogenesis, [RefSeq, PubMed]; The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4A. [provided by RefSeq, Jul 2008]., [RefSeq]; This suggests that the C-terminal domain of ST3Gal-II depends on N-glycosylation to attain an optimum conformation for proper exit from the endoplasmic reticulum, [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": 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": 2, "reported_glycation": 0, "reported_snv": 384, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O00654", "ec_number_list": "2.4.3.1;2.4.3.2;2.4.3.4;2.4.3.6;2.4.3.7;2.4.3.3;2.4.3.9", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0008373 sialyltransferase activity;GO:0047288 beta-D-galactosyl-(1->3)-N-acetyl-beta-D-galactosaminide alpha-2,3- sialyltransferase;GO:0003836 beta-galactoside (CMP) alpha-2,3-sialyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0016020 membrane;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0019082 viral protein processing;GO:0001576 globoside biosynthetic process;GO:0006688 glycosphingolipid biosynthetic process;GO:0009101 glycoprotein biosynthetic process;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine", "synthesized_glycan_count": 412, "hit_score": 16.0, "record_id": "Q16842-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q537H7-1", "uniprot_id": "SPT45_HUMAN", "mass": 11356.0, "length": 98, "protein_name": "Spermatogenesis-associated protein 45", "gene_name": "SPATA45", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 45", "refseq_ac": "NP_001019772", "gene_names_uniprotkb": "SPATA45; C1orf227; HSD-44; HSD44", "gene_names_refseq": "C1orf227; SPATA45", "protein_names_uniprotkb": "Spermatogenesis-associated protein 45", "protein_names_refseq": "UPF0732 protein C1orf227; spermatogenesis-associated protein 45", "tax_id": 9606, "disease": "", "pathway": " (hsa:149643)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "20379614", "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": 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": "Q537H7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UPU3-1", "uniprot_id": "SORC3_HUMAN", "mass": 135755.0, "length": 1222, "protein_name": "VPS10 domain-containing receptor SorCS3", "gene_name": "SORCS3", "organism": "Human", "refseq_name": "VPS10 domain-containing receptor SorCS3 precursor", "refseq_ac": "NP_055793", "gene_names_uniprotkb": "SORCS3; KIAA1059", "gene_names_refseq": "SORCS3; SORCS", "protein_names_uniprotkb": "VPS10 domain-containing receptor SorCS3", "protein_names_refseq": "VPS10 domain receptor protein SORCS 3 (SORCS3); VPS10 domain-containing receptor SorCS3 precursor; VPS10 domain-containing receptor SorCS3", "tax_id": 9606, "disease": "", "pathway": " (hsa:22986)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;11499680;15710408;23481700;24715725;28832583;29557506;32157095;32502341;33968037;34171305;35051231;35580925;35940132;36702997;36833409", "class_list": "", "function": "Cryo-EM structure studies of the human VPS10 domain-containing receptor SorCS3., [RefSeq, PubMed]; Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains. Erratum:[Nat Genet. 2023 Apr;55(4):730. doi: 10.1038/s41588-023-01350-w. PMID: 36859734], [RefSeq, PubMed]; Independent Associated SNPs at SORCS3 and Its Protein Interactors for Multiple Brain-Related Disorders and Traits. Publication Status: Online-Only, [RefSeq, PubMed]; Plays an important role in modulating synaptic transmission and plasticity in the hippocampus, probably by affecting the trafficking and localization ofAMPA-type glutamate receptors in the postsynaptic density., [UniProtKB, UniProtKB]; The propeptide is not a requirement for normal processing of the receptor and does not prevent ligands from binding to the SorCS3 precursor form, [RefSeq, PubMed]; This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014]., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 72, "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": "Q5VXF9;Q9NQJ2", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0008188 neuropeptide receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0098839 postsynaptic density membrane", "go_biological_process": "GO:0007218 neuropeptide signaling pathway;GO:0015031 protein transport;GO:0048167 regulation of synaptic plasticity;GO:0050806 positive regulation of synaptic transmission;GO:0099170 postsynaptic modulation of chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9UPU3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96KW9-1", "uniprot_id": "SPAC7_HUMAN", "mass": 21466.0, "length": 195, "protein_name": "Sperm acrosome-associated protein 7", "gene_name": "SPACA7", "organism": "Human", "refseq_name": "sperm acrosome-associated protein 7 precursor", "refseq_ac": "NP_660291", "gene_names_uniprotkb": "SPACA7; C13orf28", "gene_names_refseq": "C13orf28; SPACA7", "protein_names_uniprotkb": "Sperm acrosome-associated protein 7", "protein_names_refseq": "protein SPACA7; sperm acrosome-associated protein 7 precursor; sperm acrosome-associated protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:122258)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;16959974;22495889;23481700;29393594;29557506;36010968;36215666", "class_list": "", "function": "Involved in fertilization. Does not seem to play a direct role in sperm-egg binding or gamete fusion., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q5T8L1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0001669 acrosomal vesicle;GO:0043160 acrosomal lumen", "go_biological_process": "GO:0007338 single fertilization", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q96KW9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q68D10-1", "uniprot_id": "SPT2_HUMAN", "mass": 75599.0, "length": 685, "protein_name": "Protein SPT2 homolog", "gene_name": "SPTY2D1", "organism": "Human", "refseq_name": "protein SPT2 homolog", "refseq_ac": "NP_919261", "gene_names_uniprotkb": "SPTY2D1", "gene_names_refseq": "SPTY2D1; Spt2", "protein_names_uniprotkb": "Protein SPT2 homolog; Protein KU002155; SPT2 domain-containing protein 1", "protein_names_refseq": "SPT2 domain-containing protein 1; SPT2, Suppressor of Ty, domain containing 1; protein SPT2 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:144108)", "pathway_count": 1, "publication_count": 75, "publication_id_list": "10.1101/2023.09.13.557529;18452278;18669648;19608861;19691289;20068231;20112406;22424782;22544926;22898188;23186163;23378026;23481700;24714562;24715725;25576301;25755761;26109053;26154972;26288249;26375851;26722495;26728094;26992070;27543614;27600516;27846572;27862975;28063628;28832583;28855257;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29786170;30379171;30429286;30524438;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33392160;33592498;33691108;33936100;33968037;33981976;34087483;34171305;34405274;34561969;34932366;35051231;35318648;35561310;35580925;35691597;36010968;36215666;36284347;37938771", "class_list": "", "function": "Histone chaperone that stabilizes pre-existing histone tetramers and regulates replication-independent histone exchange on chromatin (PubMed:26109053). Required for normal chromatin refolding in the coding region of transcribed genes, and for the suppression of spurious transcription (PubMed:26109053). Binds DNA and histones and promotes nucleosome assembly (in vitro) (PubMed:23378026, PubMed:26109053). Facilitates formation of tetrameric histone complexes containing histone H3 and H4 (PubMed:26109053). Modulates RNA polymerase 1-mediated transcription (By similarity). Binds DNA, with a preference for branched DNA species, such as Y-form DNA and Holliday junction DNA (PubMed:23378026)., [UniProtKB, UniProtKB, PubMed]; Results from a study on gene expression variability markers in early-stage human embryos shows that SPTY2D1 is a putative expression variability marker for the 3-day, 8-cell embryo stage. Publication Status: Online-Only, [RefSeq, PubMed]; Spt2 is a novel histone chaperone with a separate DNA-binding domain that facilitates ribosomal DNA transcription through chromatin remodeling during transcription., [RefSeq, PubMed]; The role of histone chaperone spty2d1 in human colorectal cancer., [RefSeq, PubMed]; There may be a racial/ethnic- and/or sex-specific association between the SPTY2D1 rs17579600 single nucleotide polymorphism and serum lipid parameters in some ethnic groups. Publication Status: Online-Only, [RefSeq, PubMed]; These findings suggest that the association between the SPTY2D1 rs7934205 SNP and serum lipid levels might have ethnic- and/or sex-specificity. 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": 4, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 20, "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": "Q6AWA5;Q6MZI5;Q7Z390;Q7Z470;Q86VG8;Q8N3E7;Q8N417;Q8N8I3", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0042393 histone binding;GO:0001042 RNA polymerase I core binding;GO:0140713 histone chaperone activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0006360 transcription by RNA polymerase I;GO:0006355 regulation of DNA-templated transcription;GO:0006334 nucleosome assembly;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q68D10-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6P435-1", "uniprot_id": "SMG1L_HUMAN", "mass": 17652.0, "length": 159, "protein_name": "Putative uncharacterized SMG1-like protein", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized SMG1-like protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 11, "publication_id_list": "25576301;25880248;27846572;27862975;29493099;29557506;30315122;32357974;32387766;32561536;33981976", "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": 1.2, "record_id": "Q6P435-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZMD2-1", "uniprot_id": "SPNS3_HUMAN", "mass": 54769.0, "length": 512, "protein_name": "Protein spinster homolog 3", "gene_name": "SPNS3", "organism": "Human", "refseq_name": "protein spinster homolog 3 isoform 2", "refseq_ac": "NP_001307378", "gene_names_uniprotkb": "SPNS3", "gene_names_refseq": "SLC62A3; SLC63A3; SPNS3", "protein_names_uniprotkb": "Protein spinster homolog 3", "protein_names_refseq": "SPNS sphingolipid transporter 3 (putative); protein spinster homolog 3 isoform 2; protein spinster homolog 3; solute carrier family 63 member 3; sphingolipid transporter 3 (putative)", "tax_id": 9606, "disease": "neuronal ceroid lipofuscinosis (Disease Ontology:DOID:14503); sphingolipidosis (Disease Ontology:DOID:1927)", "pathway": " (hsa:201305)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;16959974;17714910;23481700;24715725;25505266;25576301;26992070;28832583;28834231;28904123;29242379;30524438;31844290;32387766;32502341;32897882;32938616;33392160;33537174;33912179;33968037;34087483;34185709;34509645;34608834;35249471;35580925;36241641", "class_list": "", "function": "Bioinformatics-based identification of SPNS3 (Spinster homolog 3) as a prognostic biomarker of apoptosis resistance in acute myeloid leukemia., [RefSeq, PubMed]; Sphingolipid transporter., [UniProtKB]; Upregulation of FHL1, SPNS3, and MPZL2 predicts poor prognosis in pediatric acute myeloid leukemia patients with FLT3-ITD mutation., [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": 14, "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": "Q8IZ31", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0006869 lipid transport", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q6ZMD2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q76KD6-1", "uniprot_id": "SPERI_HUMAN", "mass": 62399.0, "length": 591, "protein_name": "Speriolin", "gene_name": "SPATC1", "organism": "Human", "refseq_name": "speriolin isoform 2", "refseq_ac": "NP_001127846", "gene_names_uniprotkb": "SPATC1; SPATA15; SPRN", "gene_names_refseq": "SPATA15; SPATC1", "protein_names_uniprotkb": "Speriolin; Spermatogenesis and centriole-associated protein 1; Spermatogenesis-associated protein 15; Spermatogenic cell-specific Cdc20-binding protein", "protein_names_refseq": "speriolin isoform 2; spermatogenesis and centriole-associated protein 1; spermatogenesis-associated protein 15; spermatogenic cell-specific Cdc20-binding protein; testicular tissue protein Li 181", "tax_id": 9606, "disease": "", "pathway": " (hsa:375686)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "15280373;20542897;29393594;35051231", "class_list": "", "function": "Speriolin is a novel centrosomal protein present in the connecting piece region of human sperm that is transmitted to the zygote and can be detected throughout the first mitotic division., [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": 20, "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": "B4DWW9;Q5U5I8;Q7Z6L7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q76KD6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IW75-1", "uniprot_id": "SPA12_HUMAN", "mass": 47175.0, "length": 414, "protein_name": "Serpin A12", "gene_name": "SERPINA12", "organism": "Human", "refseq_name": "serpin A12 precursor", "refseq_ac": "NP_001291390", "gene_names_uniprotkb": "SERPINA12", "gene_names_refseq": "OL-64; SERPINA12", "protein_names_uniprotkb": "Serpin A12; OL-64; Vaspin; Visceral adipose tissue-derived serine protease inhibitor; Visceral adipose-specific serpin", "protein_names_refseq": "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12; serpin A12 precursor; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12; vaspin; visceral adipose tissue-derived serine protease inhibitor; visceral adipose-specific SERPIN", "tax_id": 9606, "disease": "alpha 1-antitrypsin deficiency (Disease Ontology:DOID:13372); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:145264)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "16030142;16298335;17991760;18375437;23370777;26199422;26529565;27693231;28668641;29786170;30397120;32157095;32983136;34171305;35051231;35138101;35580925;37921063;38529670;38609116;38665916;39064594", "class_list": "", "function": "Adipokine that modulates insulin action by specifically inhibiting its target protease KLK7 in white adipose tissues., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; BREAST CANCER-MODULATED OMENTIN AND VASPIN PLASMA LEVELS., [RefSeq, PubMed]; Elevated serum and omental adipose tissue levels of vaspin in overweight polycystic ovary syndrome women and ex vivo regulation of vaspin expression., [RefSeq, PubMed]; Induction of human vaspin mRNA expression in adipose tissue is regulated in a fat depot-specific manner and could be associated with parameters of obesity, insulin resistance, and glucose metabolism., [RefSeq, PubMed]; LRP1 is the cell-surface endocytosis receptor for vaspin in adipocytes., [RefSeq, PubMed]; Low circulating vaspin correlates with a high fitness level, whereas physical training in untrained individuals causes increased vaspin serum concentrations., [RefSeq, PubMed]; Potential digenic inheritance of SERPINB7 and SERPINA12 variants in Chinese patients with Nagashima-type palmoplantar keratosis., [RefSeq, PubMed]; Progranulin and Vaspin as Potential Novel Markers in the Etiology of Type 1 Diabetes in Children. 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": 3, "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": 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": 10, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0140678 molecular function inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q8IW75-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IY18-1", "uniprot_id": "SMC5_HUMAN", "mass": 128806.0, "length": 1101, "protein_name": "Structural maintenance of chromosomes protein 5", "gene_name": "SMC5", "organism": "Human", "refseq_name": "structural maintenance of chromosomes protein 5", "refseq_ac": "NP_055925", "gene_names_uniprotkb": "SMC5; KIAA0594; SMC5L1", "gene_names_refseq": "ATELS2; SMC5L1; SMC5", "protein_names_uniprotkb": "Structural maintenance of chromosomes protein 5; SMC protein 5; SMC-5; hSMC5", "protein_names_refseq": "SMC protein 5; SMC-5; SMC5 structural maintenance of chromosomes 5-like 1; hSMC5; structural maintenance of chromosomes protein 5", "tax_id": 9606, "disease": "mosaic variegated aneuploidy syndrome (Disease Ontology:DOID:0080688); Atelis syndrome 2 (MONDO:MONDO:0859576)", "pathway": " (hsa:23137); (R-HSA-3108214)", "pathway_count": 2, "publication_count": 154, "publication_id_list": "10.1101/2023.09.13.557529;10574707;11408570;11792325;11889051;15175327;15355988;15608651;15823533;15829507;15940266;15959518;16030353;16055714;16478998;16608850;16626738;16688858;16810316;17589526;17693435;18086888;18491316;18625722;18669648;18691969;18708356;19287951;19502785;19596686;19622798;19690332;19706679;19779455;19956565;20016594;20016603;20068231;20190268;20705237;21098080;21147198;21284855;21550342;22508508;22635276;22661230;22751501;22898188;23186163;23481700;23750026;23871147;24027577;24275569;24714562;24715725;24782567;25114211;25218447;25418920;25505266;25576301;25645385;25880248;25892735;25931565;26154972;26375851;26728094;26983541;26992070;27397612;27600516;27846572;27862975;27920218;28063628;28228285;28446606;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30410026;30429286;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34509645;34561969;34932366;35051231;35561310;35580925;35914008;36010968;36215666;36241641;36284347;36333305;36376394;36581221;36627765;37938771;38375830;38886582;39242537;9412458;9452416;9756909;9885291", "class_list": "", "function": "Core component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Required for recruitment of telomeres to PML nuclear bodies. Required for sister chromatid cohesion during prometaphase and mitotic progression; the function seems to be independent of SMC6. SMC5-SMC6 complex may prevent transcription of episomal DNA, such as circular viral DNA genome (PubMed:26983541)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Epigenetic silencing by the SMC5/6 complex mediates HIV-1 latency., [RefSeq, PubMed]; Human Smc5/6 recognises transcription-generated positive DNA supercoils. Publication Status: Online-Only, [RefSeq, PubMed]; In-frame deletion of SMC5 related with the phenotype of primordial dwarfism, chromosomal instability and insulin resistance., [RefSeq, PubMed]; SMC5/6 complex is recruited to nuclease-induced double-strand breaks (DSBs) and is required for the recruitment of cohesin to DSBs., [RefSeq, PubMed]; The SMC5/6 complex prevents genotoxicity upon APOBEC3A-mediated replication stress., [RefSeq, PubMed]; The SMC5/6 complex: folding chromosomes back into shape when genomes take a break. Review article, [RefSeq, PubMed]; The human SMC5/6 complex and the SUMO ligase activity of hMMS21 are required for the prevention of DNA damage-induced apoptosis by facilitating DNA repair in human 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": 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": 29, "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": "A6NM81;O60335;Q05D92;Q5VZ60;Q96SB9", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003697 single-stranded DNA binding;GO:0000217 DNA secondary structure binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0000775 chromosome, centromeric region", "go_biological_process": "GO:0051984 positive regulation of chromosome segregation;GO:0032204 regulation of telomere maintenance;GO:0016925 protein sumoylation;GO:0051301 cell division;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 15.9, "record_id": "Q8IY18-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N4L4-1", "uniprot_id": "SPEM1_HUMAN", "mass": 34773.0, "length": 309, "protein_name": "Spermatid maturation protein 1", "gene_name": "SPEM1", "organism": "Human", "refseq_name": "spermatid maturation protein 1", "refseq_ac": "NP_955371", "gene_names_uniprotkb": "SPEM1; C17orf83", "gene_names_refseq": "C17orf83; SPEM1", "protein_names_uniprotkb": "Spermatid maturation protein 1", "protein_names_refseq": "spermatid maturation protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:374768)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "24715725;26154972;30054974;30379171", "class_list": "", "function": "Required for proper cytoplasm removal during spermatogenesis., [UniProtKB]; SPEM1 appears to have a significant clinical value for prediction of sperm retrieval in azoospermic men., [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": 7, "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_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0007291 sperm individualization", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8N4L4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96LD1-1", "uniprot_id": "SGCZ_HUMAN", "mass": 32949.0, "length": 299, "protein_name": "Zeta-sarcoglycan", "gene_name": "SGCZ", "organism": "Human", "refseq_name": "zeta-sarcoglycan isoform 2", "refseq_ac": "NP_001309808", "gene_names_uniprotkb": "SGCZ", "gene_names_refseq": "SGCZ; ZSG1", "protein_names_uniprotkb": "Zeta-sarcoglycan; ZSG1; Zeta-SG", "protein_names_refseq": "zeta-SG; zeta-sarcoglycan isoform 2; zeta-sarcoglycan", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); dilated cardiomyopathy 1L (Disease Ontology:DOID:0110436); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:137868); (R-HSA-9913351)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10022829;10189375;10441321;10545507;10893187;10932245;10942431;11352924;11430802;11495720;12189167;1319059;15175026;16524571;17905726;18764929;19346169;19472918;19946898;20044576;22159078;22223806;22836685;24792710;29557506;30379171;3282674;7527495;7547961;7592992;7844150;7925941;8043271;8268918;8349731;8576247;8607994;8627307;8798547;8845841;9214383;9405466;9412493;9652404;9864373", "class_list": "", "function": "Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. May play a role in the maintenance of striated muscle membrane stability (By similarity)., [UniProtKB]; No pathogenic SGCZ mutations were identified, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008]., [RefSeq]; Three CNVs associated with BMI, obesity, and other obesity-related traits after adjusting for multiple testing. These CNVs overlap the PARK2, GYPA, and SGCZ genes, [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6REU0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0045202 synapse;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0046716 muscle cell cellular homeostasis;GO:0060047 heart contraction;GO:0061024 membrane organization;GO:0048738 cardiac muscle tissue development;GO:0055001 muscle cell development", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q96LD1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NS25-1", "uniprot_id": "SPNXB_HUMAN", "mass": 11840.0, "length": 103, "protein_name": "Sperm protein associated with the nucleus on the X chromosome B1", "gene_name": "SPANXB1", "organism": "Human", "refseq_name": "sperm protein associated with the nucleus on the X chromosome B1", "refseq_ac": "NP_115850", "gene_names_uniprotkb": "SPANXB1; SPANXB2; SPANXB; SPANXF1", "gene_names_refseq": "B1; CT11.2; SPANX-B; SPANXB1; SPANXB2; SPANXB; SPANXF1; SPANXF2", "protein_names_uniprotkb": "Sperm protein associated with the nucleus on the X chromosome B1; CT11.2; Cancer/testis antigen 11.2; Nuclear-associated protein SPAN-Xb; SPANX family member B1; SPANX family member F1; SPANX-B", "protein_names_refseq": "SPANX family member B/F; SPANX family member F1; SPANX family, member B2; SPANX family, member F2; cancer/testis antigen 11.2; cancer/testis antigen family 11, member 2; nuclear-associated protein SPAN-Xb; nuclear-associated protein SPAN-Xf; sperm protein associated with the nucleus on the X chromosome B/F; sperm protein associated with the nucleus on the X chromosome B1; sperm protein associated with the nucleus, X chromosome, family member B1", "tax_id": 9606, "disease": "", "pathway": " (hsa:728695)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10906052;12393489;12758128;16251457;25229454;26992070;31406142;31844290;32488085;32938616;33968037;34171305;34561969", "class_list": "", "function": "Cancer Testis Antigen Promotes Triple Negative Breast Cancer Metastasis and is Traceable in the Circulating Extracellular Vesicles. Erratum:[Sci Rep. 2020 Jan 31;10(1):1907. doi: 10.1038/s41598-020-58045-z. PMID: 32005891] Publication Status: Online-Only, [RefSeq, PubMed]; Correlation between SPAN-Xb gene expression and B-cell immune responses in myeloma and other hematologic malignancies, [RefSeq, PubMed]; Epigenetic mechanisms underlying the dynamic expression of cancer-testis genes, PAGE2, -2B and SPANX-B, during mesenchymal-to-epithelial transition Publication Status: Online-Only, [RefSeq, PubMed]; Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular family member contains an additional 18 nucleotides in its coding region compared to the other family members in the same gene cluster. This family member is also subject to gene copy number variation. Although the protein encoded by this gene contains consensus nuclear localization signals, the major site for subcellular localization of expressed protein is in the cytoplasmic droplets of ejaculated spermatozoa. This protein provides a biochemical marker for studying the unique structures in spermatazoa, while attempting to further define its role in spermatogenesis. [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": 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": "A0A0G2JJ56;B2RPP2;Q32WQ7;Q5JYZ7;Q8TAD5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0007286 spermatid development", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9NS25-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6P5-1", "uniprot_id": "SESN1_HUMAN", "mass": 56557.0, "length": 492, "protein_name": "Sestrin-1", "gene_name": "SESN1", "organism": "Human", "refseq_name": "sestrin-1 isoform 2", "refseq_ac": "NP_001186862", "gene_names_uniprotkb": "SESN1; PA26; SEST1", "gene_names_refseq": "PA26; SESN1; SEST1", "protein_names_uniprotkb": "Sestrin-1; 1.11.1.-; p53-regulated protein PA26", "protein_names_refseq": "p53 activated gene 26; p53 regulated PA26 nuclear protein; sestrin-1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:27244); (R-HSA-9639288); (R-HSA-9755511)", "pathway_count": 3, "publication_count": 142, "publication_id_list": "12198130;12607115;12700136;14517290;14585973;14688281;14764894;15105503;15854902;15878852;15983046;16098514;16286508;16359182;16962933;17470430;17512459;17525332;17979524;18238777;18273910;18497260;18604198;19690332;20378532;20381137;20452972;20495340;21220506;21391649;21734707;22053050;22424782;22575674;22789539;22872865;22980980;23274085;23481700;23723238;24011591;24081491;24095279;24298019;24715725;25040165;25259925;25263562;25457612;25561175;25567906;25645385;25793262;25819761;25892735;25921531;26117325;26154972;26375851;26449471;26583321;26586190;26942676;26972053;26992070;27308486;27487210;27648300;27862975;27920218;28066558;28199306;28199315;28228285;28380357;28514659;29053970;29056322;29123071;29233872;29236692;29242379;29393594;29450944;29526543;29557506;29632046;29769354;29786170;29789417;29930882;30061680;30181260;30429286;30524438;30610225;30651352;30779550;31154438;31217245;31546975;31844290;31848261;31937595;32157095;32284348;32293500;32357974;32387766;32488085;32502341;32640524;32672401;32897882;32938616;33009401;33091337;33141586;33392160;33537174;33791708;33859744;33936100;33968037;33981976;34087483;34171305;34185709;34509645;35051231;35580925;35622213;36010968;36215666;36241641;36284347;37199024;37938771;38019229;38460759;7499430;9926927", "class_list": "", "function": "Functions as an intracellular leucine sensor that negatively regulates the TORC1 signaling pathway through the GATOR complex. In absence of leucine, binds the GATOR subcomplex GATOR2 and prevents TORC1 signaling. Binding of leucine to SESN2 disrupts its interaction with GATOR2 thereby activating the TORC1 signaling pathway (PubMed:25263562, PubMed:26449471). This stress-inducible metabolic regulator may also play a role in protection against oxidative and genotoxic stresses (By similarity). May positively regulate the transcription by NFE2L2 of genes involved in the response to oxidative stress by facilitating the SQSTM1-mediated autophagic degradation of KEAP1 (PubMed:23274085). Moreover, may prevent the accumulation of reactive oxygen species (ROS) through the alkylhydroperoxide reductase activity born by the N-terminal domain of the protein (By similarity). Was originally reported to contribute to oxidative stress resistance by reducing PRDX1 (PubMed:15105503). However, this could not be confirmed (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; IGF2BP3 stabilizes SESN1 mRNA to mitigate oxidized low-density lipoprotein-induced oxidative stress and endothelial dysfunction in human umbilical vein endothelial cells by activating Nrf2 signaling., [RefSeq, PubMed]; Metformin Caused Radiosensitivity of Breast Cancer Cells through the Expression Modulation of miR-21-5p/SESN1axis. Publication Status: Online-Only, [RefSeq, PubMed]; PA26 mutations are an infrequent cause of heterotaxia (situs inversus) in humans., [RefSeq, PubMed]; Results show that sestrins, a family of proteins whose expression is modulated by p53, are required for regeneration of peroxiredoxins containing Cys-SO(2)H, [RefSeq, PubMed]; SESN1 is a FOXO3 effector that counteracts human skeletal muscle ageing., [RefSeq, PubMed]; SESN1, negatively regulated by miR-377-3p, suppresses invasive growth of head and neck squamous cell carcinoma by interaction with SMAD3., [RefSeq, PubMed]; This gene encodes a member of the sestrin family. Sestrins are induced by the p53 tumor suppressor protein and play a role in the cellular response to DNA damage and oxidative stress. The encoded protein mediates p53 inhibition of cell growth by activating AMP-activated protein kinase, which results in the inhibition of the mammalian target of rapamycin protein. The encoded protein also plays a critical role in antioxidant defense by regenerating overoxidized peroxiredoxins, and the expression of this gene is a potential marker for exposure to radiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q2M2B7;Q5T316;Q9NV00;Q9UPD5;Q9Y6P6", "ec_number_list": "7.1.2.2;2.7.10.2;2.7.11.1;1.11.1.-;2.3.2.27;2.3.2.32;3.6.5.-;2.1.1.-", "go_molecular_function": "GO:0016684 oxidoreductase activity, acting on peroxide as acceptor;GO:0070728 L-leucine binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001650 fibrillar center", "go_biological_process": "GO:0030308 negative regulation of cell growth;GO:0042149 cellular response to glucose starvation;GO:0016239 positive regulation of macroautophagy;GO:0072593 reactive oxygen species metabolic process;GO:0034198 cellular response to amino acid starvation", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q9Y6P5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15079-1", "uniprot_id": "SNPH_HUMAN", "mass": 53537.0, "length": 494, "protein_name": "Syntaphilin", "gene_name": "SNPH", "organism": "Human", "refseq_name": "syntaphilin isoform 1", "refseq_ac": "NP_001305163", "gene_names_uniprotkb": "SNPH; KIAA0374", "gene_names_refseq": "SNPH", "protein_names_uniprotkb": "Syntaphilin", "protein_names_refseq": "syntaphilin isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9751)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10707983;11237011;12896979;20877624;25576301;26992070;27846572;28891816;29557506;29898993;31079810;31844290;32157095;32488085;32938616;33968037", "class_list": "", "function": "By establishing the role of SNPH ubiquitination., [RefSeq, PubMed]; Inhibits SNARE complex formation by absorbing free STX1A., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; SNPH is a stress-regulated mitochondrial switch of the cell proliferation-motility balance in cancer, and its pathway may represent a therapeutic target., [RefSeq, PubMed]; Syntaphilin is an inhibitor of both SNARE-based fusion and dynamin-mediated endocytosis, [RefSeq, PubMed]; Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicle docking and fusion. The protein encoded by this gene is membrane-associated and inhibits SNARE complex formation by binding free syntaxin-1. Expression of this gene appears to be brain-specific. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]., [RefSeq]; These data suggest that SNPH is a novel marker of high Gleason grade prostate cancer, differentially expressed at the invasive front compared with the central tumor bulk, and is potentially down-regulated in metastatic disease., [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": 4, "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": "Q8IYI3", "ec_number_list": "", "go_molecular_function": "GO:0017075 syntaxin-1 binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0016020 membrane;GO:0043005 neuron projection;GO:0005881 cytoplasmic microtubule", "go_biological_process": "GO:0030182 neuron differentiation;GO:0007269 neurotransmitter secretion;GO:0016081 synaptic vesicle docking", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "O15079-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35713-1", "uniprot_id": "SOX18_HUMAN", "mass": 40891.0, "length": 384, "protein_name": "Transcription factor SOX-18", "gene_name": "SOX18", "organism": "Human", "refseq_name": "transcription factor SOX-18", "refseq_ac": "NP_060889", "gene_names_uniprotkb": "SOX18", "gene_names_refseq": "HLTRS; HLTS; SOX18", "protein_names_uniprotkb": "Transcription factor SOX-18", "protein_names_refseq": "SRY (sex determining region Y)-box 18; SRY-box 18; transcription factor SOX-18", "tax_id": 9606, "disease": "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (Disease Ontology:DOID:0111360); hypotrichosis-lymphedema-telangiectasia syndrome (Disease Ontology:DOID:0111361)", "pathway": " (hsa:54345)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10807548;10858556;11130989;12740761;1614875;17603017;23186163;24697860;26992070;27862975;29557506;30429286;30524438;31154438;31848261;32157095;32161166;33851505;34171305;34570228;35051231;35580925;36053455;36732767;38421701", "class_list": "", "function": "A dominant-negative SOX18 mutant disrupts multiple regulatory layers essential to transcription factor activity., [RefSeq, PubMed]; Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum., [RefSeq, PubMed]; Long non-coding RNA DUXAP10 exerts oncogenic properties in osteosarcoma by recruiting HuR to enhance SOX18 mRNA stability. Erratum:[Hum Cell. 2025 Sep 12;38(6):156. doi: 10.1007/s13577-025-01281-0. PMID: 40938474], [RefSeq, PubMed]; Molecular Mechanism of SOX18 in Lipopolysaccharide-Induced Injury of Human Umbilical Vein Endothelial Cells., [RefSeq, PubMed]; The maturation of iPS cell-derived brain microvascular endothelial cells by inducible-SOX18 expression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional activator that binds to the consensus sequence 5'-AACAAAG-3' in the promoter of target genes and plays an essential role in embryonic cardiovascular development and lymphangiogenesis. Activates transcription of PROX1 and other genes coding for lymphatic endothelial markers. Plays an essential role in triggering the differentiation of lymph vessels, but is not required for the maintenance of differentiated lymphatic endothelial cells. Plays an important role in postnatal angiogenesis, where it is functionally redundant with SOX17. Interaction with MEF2C enhances transcriptional activation. Besides, required for normal hair development., [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": 1, "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": "Q0VGA9;Q9NPH8", "ec_number_list": "", "go_molecular_function": "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: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:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0060214 endocardium formation;GO:0061028 establishment of endothelial barrier;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001525 angiogenesis;GO:0001570 vasculogenesis", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "P35713-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P57073-1", "uniprot_id": "SOX8_HUMAN", "mass": 47314.0, "length": 446, "protein_name": "Transcription factor SOX-8", "gene_name": "SOX8", "organism": "Human", "refseq_name": "transcription factor SOX-8", "refseq_ac": "NP_055402", "gene_names_uniprotkb": "SOX8", "gene_names_refseq": "SOX8", "protein_names_uniprotkb": "Transcription factor SOX-8", "protein_names_refseq": "SRY (sex determining region Y)-box 8; SRY-box 8; transcription factor SOX-8", "tax_id": 9606, "disease": "", "pathway": " (hsa:30812)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "10662550;11237011;23481700;25645385;26375851;27600516;27869121;27920218;28121444;28218747;28228285;29242379;29508533;29557506;29786170;30315122;31154438;31194875;31844290;32488085;32550913;33190587;34342803;34373588;35195773;36246971;36631813", "class_list": "", "function": "Activation of RSK2 upregulates SOX8 to promote methotrexate resistance in gestational trophoblastic neoplasia., [RefSeq, PubMed]; Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development. Publication Status: Online-Only, [RefSeq, PubMed]; SOX8 Knockdown Overcomes Enzalutamide Resistance in Castration-Resistant Prostate Cancer by Inhibiting the Notch Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; SOX8 promotes cetuximab resistance via HGF/MET bypass pathway activation in colorectal cancer., [RefSeq, PubMed]; The oncogenic role of SOX8 in endometrial carcinoma., [RefSeq, PubMed]; This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the cognitive disability found in an alpha-thalassemia-related syndrome (ART-16). This protein is also highly expressed in the majority of human hepatocellular carcinomas and promotes cellular proliferation and enhanced tumor growth. [provided by RefSeq, Jul 2017]., [RefSeq]; Transcription factor that may play a role in central nervous system, limb and facial development. May be involved in male sex determination. Binds the consensus motif 5'-[AT][AT]CAA[AT]G-3' (By similarity)., [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": 3, "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": "Q9NZW2", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA 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:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0048484 enteric nervous system development;GO:0072289 metanephric nephron tubule formation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001701 in utero embryonic development;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P57073-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16533-1", "uniprot_id": "SNPC1_HUMAN", "mass": 42994.0, "length": 368, "protein_name": "snRNA-activating protein complex subunit 1", "gene_name": "SNAPC1", "organism": "Human", "refseq_name": "snRNA-activating protein complex subunit 1", "refseq_ac": "NP_003073", "gene_names_uniprotkb": "SNAPC1; SNAP43", "gene_names_refseq": "PTFgamma; SNAP43; SNAPC1", "protein_names_uniprotkb": "snRNA-activating protein complex subunit 1; PSE-binding factor subunit gamma; PTF subunit gamma; Proximal sequence element-binding transcription factor subunit gamma; SNAPc 43 kDa subunit; SNAPc subunit 1; Small nuclear RNA-activating complex polypeptide 1; snRNA-activating protein complex 43 kDa subunit", "protein_names_refseq": "PSE-binding factor subunit gamma; PTF subunit gamma; SNAPc 43 kDa subunit; SNAPc subunit 1; proximal sequence element-binding transcription factor subunit gamma; small nuclear RNA activating complex, polypeptide 1, 43kDa; small nuclear RNA activating complex, polypeptide 1, 43kD; snRNA-activating protein complex 43 kDa subunit; snRNA-activating protein complex subunit 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:6617); (R-HSA-6807505); (R-HSA-749476); (R-HSA-76071)", "pathway_count": 4, "publication_count": 107, "publication_id_list": "10022900;10421633;11056176;11463379;11856838;12414730;12574128;12621023;14701755;1535687;16239144;16308568;16901896;1739980;18079403;1829677;18669648;19667075;20457598;2125285;21406692;22137580;22231121;22252320;22424782;22441827;22984286;23166507;23481700;23932780;24097444;24270878;24997600;25418920;25576301;25645385;25675981;25892735;26154972;26288249;26992070;27846572;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;2944599;29557506;29632046;29769354;30315122;30429286;30484775;30779550;31154438;31217245;31844290;31848261;31937595;31998317;32157095;32265295;32350084;32387766;32488085;32938616;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33968037;34171305;34185709;34561969;35051231;35251023;35580925;36010968;36284347;36581221;37340703;37938771;40596516;7715707;7891697;8253082;8339931;8524284;8628262;8668525;9003788;9009278;9153304;9188510;9234698;9407024;9418884;9705341;9832505", "class_list": "", "function": "Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box., [UniProtKB, PubMed]; Results from a study on gene expression variability markers in early-stage human embryos shows that is a putative expression variability marker as well as a differential gene expression marker for the 3-day, 8-cell embryo stage. 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": 0, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0043565 sequence-specific DNA binding;GO:0016251 RNA polymerase II general transcription initiation factor activity;GO:0000995 RNA polymerase III general transcription initiation factor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0019185 snRNA-activating protein complex", "go_biological_process": "GO:0042795 snRNA transcription by RNA polymerase II;GO:0042796 snRNA transcription by RNA polymerase III", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q16533-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6IEE8-1", "uniprot_id": "SN12L_HUMAN", "mass": 67096.0, "length": 588, "protein_name": "Schlafen family member 12-like", "gene_name": "SLFN12L", "organism": "Human", "refseq_name": "schlafen family member 12-like isoform 2", "refseq_ac": "NP_001182719", "gene_names_uniprotkb": "SLFN12L; SLFN5", "gene_names_refseq": "SLFN12L", "protein_names_uniprotkb": "Schlafen family member 12-like", "protein_names_refseq": "schlafen family member 12-like isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:100506736)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;14569139;25418920;25892735;27427984;28832583;29393594;29731959;29769354;30875077;32265295;33912179;35051231;40596516", "class_list": "", "function": "In the stomachs of H. pylori-infected patients, the human SLFN4 ortholog SLFN12L colocalized to cells that expressed myeloid-derived suppressor cell surface markers CD15+CD33+HLA-DRlo, [RefSeq, PubMed]; Schlafen 12 (SLFN12) is a cytosolic protein that stimulates sucrase-isomaltase (SI) 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": 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": "F5H6G3", "ec_number_list": "", "go_molecular_function": "GO:0004540 RNA nuclease activity;GO:0043022 ribosome binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0016075 rRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q6IEE8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86WD7-1", "uniprot_id": "SPA9_HUMAN", "mass": 46557.0, "length": 417, "protein_name": "Serpin A9", "gene_name": "SERPINA9", "organism": "Human", "refseq_name": "serpin A9 isoform D", "refseq_ac": "NP_001271205", "gene_names_uniprotkb": "SERPINA9; GCET1; PRO1337; SERPINA11", "gene_names_refseq": "GCET1; SERPINA9", "protein_names_uniprotkb": "Serpin A9; Centerin; Germinal center B-cell-expressed transcript 1 protein", "protein_names_refseq": "centerin; germinal center B-cell-expressed transcript 1 protein; serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9; serpin A9 isoform D; serpin A9; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:327657)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;12819018;12975309;17447896;17898315;18550480;18799872;19023099;24190977;25203428;31844290;32350084;33392160;33936100;35051231;37519110", "class_list": "", "function": "Diagnostic Utility of the Germinal Center-associated Markers GCET1, HGAL, and LMO2 in Hematolymphoid Neoplasms., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Protease inhibitor that inhibits trypsin and trypsin-like serine proteases (in vitro). Inhibits plasmin and thrombin with lower efficiency (in vitro)., [UniProtKB, PubMed]; Results report the cloning of germinal center B-cell expressed transcripts 1 and 2 (GCET1 and 2), and show that both are expressed in follicular lymphoma and diffuse large B-cell lymphoma with germinal center B-cell differentiation., [RefSeq, PubMed]; SerpinA9 was associated with stroke in both whites and blacks, [RefSeq, PubMed]; The cloning, expression and molecular characterization of recombinant serpina9 (centerin) are reported., [RefSeq, PubMed]; Value of GCET1, HGAL (GCET2), and LMO2 in the Determination of Germinal Center Phenotype in Diffuse Large B-cell Lymphoma., [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": 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": 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": "B4DVH4;B9ZVX3;Q2T9J2;Q6UWP9;Q86WD4;Q86WD5;Q86WD6;Q86YP6;Q86YP7", "ec_number_list": "", "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q86WD7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96L94-1", "uniprot_id": "SNX22_HUMAN", "mass": 22068.0, "length": 193, "protein_name": "Sorting nexin-22", "gene_name": "SNX22", "organism": "Human", "refseq_name": "sorting nexin-22", "refseq_ac": "NP_079074", "gene_names_uniprotkb": "SNX22", "gene_names_refseq": "SNX22", "protein_names_uniprotkb": "Sorting nexin-22", "protein_names_refseq": "sorting nexin-22", "tax_id": 9606, "disease": "", "pathway": " (hsa:79856)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "17400918;28832583;28904123;29242379;31844290;32356940;33936100;34932366", "class_list": "", "function": "May be involved in several stages of intracellular trafficking (By similarity). Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) (PubMed:17400918)., [UniProtKB, PubMed, UniProtKB]; The protein encoded by this gene is a sorting nexin that is found in the cytoplasm, where it interacts with membrane-bound phosphatidylinositol 3-phosphate. The encoded protein may play a role in intracellular trafficking. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Dec 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": 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": "Q8WUS9;Q9H844", "ec_number_list": "", "go_molecular_function": "GO:1901981 phosphatidylinositol phosphate binding", "go_cellular_component": "GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q96L94-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VWJ9-1", "uniprot_id": "SNX30_HUMAN", "mass": 49677.0, "length": 437, "protein_name": "Sorting nexin-30", "gene_name": "SNX30", "organism": "Human", "refseq_name": "sorting nexin-30", "refseq_ac": "NP_001013012", "gene_names_uniprotkb": "SNX30", "gene_names_refseq": "ATG24A; SNX30", "protein_names_uniprotkb": "Sorting nexin-30", "protein_names_refseq": "sorting nexin-30", "tax_id": 9606, "disease": "", "pathway": " (hsa:401548)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;18669648;20068231;20583170;23481700;25576301;25645385;26992070;27600516;27846572;28832583;29242379;29393594;29493099;29557506;29632711;30379171;30429286;31844290;32157095;32387766;32488085;32513819;32938616;32983136;33123756;33298915;33592498;33912179;33936100;33968037;33981976;34185709;34509645;35051231;35580925;36241641", "class_list": "", "function": "Involved in the regulation of endocytosis and in several stages of intracellular trafficking (PubMed:32513819). Together with SNX4, involved in autophagosome assembly (PubMed:32513819)., [UniProtKB, PubMed]; 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": 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": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005769 early endosome;GO:0031901 early endosome membrane;GO:0000407 phagophore assembly site", "go_biological_process": "GO:0015031 protein transport;GO:0000423 mitophagy;GO:0032456 endocytic recycling;GO:0034727 piecemeal microautophagy of the nucleus;GO:0061709 reticulophagy", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q5VWJ9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86XE0-1", "uniprot_id": "SNX32_HUMAN", "mass": 46399.0, "length": 403, "protein_name": "Sorting nexin-32", "gene_name": "SNX32", "organism": "Human", "refseq_name": "sorting nexin-32", "refseq_ac": "NP_689973", "gene_names_uniprotkb": "SNX32; SNX6B", "gene_names_refseq": "SNX32; SNX6B", "protein_names_uniprotkb": "Sorting nexin-32; Sorting nexin-6B", "protein_names_refseq": "sorting nexin-32; sorting nexin-6B", "tax_id": 9606, "disease": "", "pathway": " (hsa:254122)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "28904123;29557506;30379171;30524438;31492838;31844290;32157095;32350084;32357974;32387766;32938616;33298915;33392160;33912179;33968037;35051231;35580925;37158588;39073202", "class_list": "", "function": "Involved in endosomal trafficking of cargo proteins, including transferrin-bound transferrin receptor (TFRC), cation-independent mannose-6-phosphate receptor (IGF2R) and epidermal growth factor receptor (EGFR) (PubMed:37158588, PubMed:39073202). Functions redundantly with other BAR domain-containing sorting nexins in endosome to trans-Golgi network transport of IGF2R (PubMed:39073202). Regulates in coordination with SNX5 sorting and trafficking of EGF-activated EGFR to multivesicular bodies for lysosomal degradation (PubMed:39073202). Plays an essential role in neurite outgrowth, controlling basigin/EMMPRIN (BSG) trafficking to the cell surface (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; SNX32 Regulates Sorting and Trafficking of Activated EGFR to the Lysosomal 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": 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": 2, "reported_glycation": 0, "reported_snv": 12, "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": "Q8IW53;Q96NG4", "ec_number_list": "", "go_molecular_function": "GO:0035091 phosphatidylinositol binding;GO:0034452 dynactin binding", "go_cellular_component": "GO:0005768 endosome;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0055037 recycling endosome", "go_biological_process": "GO:0015031 protein transport;GO:0016241 regulation of macroautophagy;GO:0016197 endosomal transport;GO:0042147 retrograde transport, endosome to Golgi;GO:1990138 neuron projection extension", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q86XE0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WUU8-1", "uniprot_id": "TM174_HUMAN", "mass": 26287.0, "length": 243, "protein_name": "Transmembrane protein 174", "gene_name": "TMEM174", "organism": "Human", "refseq_name": "transmembrane protein 174", "refseq_ac": "NP_694949", "gene_names_uniprotkb": "TMEM174", "gene_names_refseq": "TMEM174", "protein_names_uniprotkb": "Transmembrane protein 174", "protein_names_refseq": "transmembrane protein 174", "tax_id": 9606, "disease": "", "pathway": " (hsa:134288)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "20331980;35051231;35459732", "class_list": "", "function": "Regulator of plasma phosphate homeostasis. Decreases serum inorganic phosphate (Pi) uptake by regulating the sodium-phosphate cotransporter SLC34A1 trafficking by PTH and FGF23 in the kidney., [UniProtKB, UniProtKB]; These results suggest the potential role of TMEM174 in renal development and physiological function. Erratum:[Biochem Biophys Res Commun. 2011 Jan 7;404(1):580], [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": "B2RDA0;Q96N81", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0055062 phosphate ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8WUU8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NLX3-1", "uniprot_id": "SPDE4_HUMAN", "mass": 27806.0, "length": 237, "protein_name": "Speedy protein E4", "gene_name": "SPDYE4", "organism": "Human", "refseq_name": "speedy protein E4", "refseq_ac": "NP_001121548", "gene_names_uniprotkb": "SPDYE4", "gene_names_refseq": "SPDYE4", "protein_names_uniprotkb": "Speedy protein E4", "protein_names_refseq": "putative Speedy protein E4; speedy homolog E4; speedy protein E4", "tax_id": 9606, "disease": "", "pathway": " (hsa:388333)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;22763696", "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": 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": "B2RUZ6", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NLX3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NIY4-1", "uniprot_id": "SPDE5_HUMAN", "mass": 47997.0, "length": 402, "protein_name": "Speedy protein E5", "gene_name": "SPDYE5", "organism": "Human", "refseq_name": "speedy protein E5", "refseq_ac": "NP_001293070", "gene_names_uniprotkb": "SPDYE5", "gene_names_refseq": "SPDYE5", "protein_names_uniprotkb": "Speedy protein E5", "protein_names_refseq": "putative Speedy protein E5; speedy homolog E5; speedy protein E5", "tax_id": 9606, "disease": "", "pathway": " (hsa:442590)", "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": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A0A096LPK5", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A6NIY4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q56A73-1", "uniprot_id": "SPIN4_HUMAN", "mass": 28660.0, "length": 249, "protein_name": "Spindlin-4", "gene_name": "SPIN4", "organism": "Human", "refseq_name": "spindlin-4", "refseq_ac": "NP_001012986", "gene_names_uniprotkb": "SPIN4", "gene_names_refseq": "LJBS; SPIN4; TDRD28", "protein_names_uniprotkb": "Spindlin-4", "protein_names_refseq": "spindlin-4", "tax_id": 9606, "disease": "Lui-Jee-Baron syndrome (MONDO:MONDO:0957919)", "pathway": " (hsa:139886)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "24715725;25576301;26154972;26992070;28411811;28832583;28834231;29061846;29242379;29557506;29632711;30315122;30524438;30779550;31844290;31848261;32161166;32357974;32387766;32502341;32897882;32938616;33298915;33592498;33968037;33981976;34171305;35051231;35561310;35580925;36241641;36284347;36927955", "class_list": "", "function": "Binds to acetylated and methylated histones, including H3K4me3 and H4K20me3, probably acting as a histone reader that recognizes chromatin marks and mediates downstream cellular effects (PubMed:29061846, PubMed:36927955). Promotes canonical WNT signaling, and is involved in the down-regulation of cell proliferation (PubMed:36927955)., [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": 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": "B3KX90;Q5JUL2", "ec_number_list": "", "go_molecular_function": "GO:0140002 histone H3K4me3 reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0006355 regulation of DNA-templated transcription;GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:0007276 gamete generation", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q56A73-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TAS1-1", "uniprot_id": "UHMK1_HUMAN", "mass": 46546.0, "length": 419, "protein_name": "Serine/threonine-protein kinase Kist", "gene_name": "UHMK1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase Kist isoform 2", "refseq_ac": "NP_001171692", "gene_names_uniprotkb": "UHMK1; KIST; KIS", "gene_names_refseq": "KIST; KIS; P-CIP2; UHMK1", "protein_names_uniprotkb": "Serine/threonine-protein kinase Kist; 2.7.11.1; Kinase interacting with stathmin; P-CIP2; PAM COOH-terminal interactor protein 2; U2AF homology motif kinase 1", "protein_names_refseq": "KIS protein kinase; PAM COOH-terminal interactor protein 2; U2AF homology motif (UHM) kinase 1; kinase interacting with leukemia-associated gene (stathmin); serine/threonine-protein kinase Kist isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:127933); (R-HSA-9634638)", "pathway_count": 2, "publication_count": 119, "publication_id_list": "10102273;10542244;10574929;10831586;11145955;11243864;11726503;11875118;11889117;11988758;12070310;12093740;12782393;12814430;12904306;15090535;15314172;15564374;15705661;15897899;16199154;16835357;16978587;17344846;17726090;17984092;18391968;18785877;23419774;23481700;24039841;24714562;24715725;25418920;25576301;25645385;25892735;26154972;26279144;26375851;26728094;26811146;26992070;27397612;27557932;27600516;27846572;27862975;27920218;28012964;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30410026;30429286;30484775;30779550;31154438;31530632;31844290;31848261;31998317;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;34932366;35051231;35151311;35318648;35501324;35580925;36010968;36241641;36284347;36919755;37938771;38597390;7588619;7889942;8386592;8635462;9042862;9199319;9264403;9448290", "class_list": "", "function": "KIS counteracts PTBP2 and regulates alternative exon usage in neurons. Publication Status: Online-Only, [RefSeq, PubMed]; KIS gene was overexpressed in NF1-associated plexiform neurofibromas and malignant peripheral nerve sheath tumors (MPNSTs) as compared to dermal neurofibroma which suggests a possible implication of KIS in the genesis of NF1-associated tumors., [RefSeq, PubMed]; KIS promoter is activated by serum-responsive GABP binding to Ets-binding sites which leads to KIS gene expression, cell migration, and cell cycle progression, [RefSeq, PubMed]; Results show that KIS is a direct transcriptional target of FoxM1., [RefSeq, PubMed]; The gene encodes a serine/threonine protein kinase that promotes cell cycle progression through G1 by phosphorylation of the cyclin-dependent kinase inhibitor 1B (p27Kip1), which causes nuclear export and degradation. The encoded protein is also thought to function in the adult nervous system and the gene has been associated with schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]., [RefSeq]; These results provide preliminary evidence that the UHMK1 gene increases susceptibility to schizophrenia. Further confirmation in adequately powered samples is needed. GeneRIF: Evidence indicating that UHMK1 may be a candidate susceptibility gene for Schizophrenia in the British population. UHMK1 is situated between previously implicated genes RGS4 and NOS1AP., [RefSeq, PubMed]; UHMK1 aids colorectal cancer cell proliferation and chemoresistance through augmenting IL-6/STAT3 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; UHMK1 promotes lung adenocarcinoma oncogenesis by regulating the PI3K/AKT/mTOR signaling pathway., [RefSeq, PubMed]; UHMK1-dependent phosphorylation of Cajal body protein coilin alters 5-FU sensitivity in colon cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Upon serum stimulation, phosphorylates CDKN1B/p27Kip1, thus controlling CDKN1B subcellular location and cell cycle progression in G1 phase. May be involved in trafficking and/or processing of RNA (By similarity)., [UniProtKB]; We identify the kinase responsible for S10 phosphorylation as human kinase interacting stathmin (hKIS) and show that it regulates cell cycle progression in response to mitogens., [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": "A0A0A6YYC2;A8K8K4;G3V1M1;Q96C22", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0003723 RNA binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0043021 ribonucleoprotein complex binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0030424 axon;GO:0032839 dendrite cytoplasm;GO:0071598 neuronal ribonucleoprotein granule", "go_biological_process": "GO:0031175 neuron projection development;GO:0018105 peptidyl-serine phosphorylation;GO:0046825 regulation of protein export from nucleus;GO:0051726 regulation of cell cycle;GO:0045948 positive regulation of translational initiation", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "Q8TAS1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6B6-1", "uniprot_id": "SAR1B_HUMAN", "mass": 22410.0, "length": 198, "protein_name": "Small COPII coat GTPase SAR1B", "gene_name": "SAR1B", "organism": "Human", "refseq_name": "small COPII coat GTPase SAR1B", "refseq_ac": "NP_001028675", "gene_names_uniprotkb": "SAR1B; SARA2; SARB", "gene_names_refseq": "ANDD; CMRD; GTBPB; SAR1B; SARA2", "protein_names_uniprotkb": "Small COPII coat GTPase SAR1B; 3.6.5.2; GTBPB; GTP-binding protein B; Secretion-associated Ras-related GTPase 1B", "protein_names_refseq": "2310075M17Rik; GTP-binding protein B; GTP-binding protein SAR1b; GTP-binding protein Sara; SAR1 homolog B; SAR1a gene homolog 2; small COPII coat GTPase SAR1B", "tax_id": 9606, "disease": "chylomicron retention disease (Disease Ontology:DOID:0060357)", "pathway": " (hsa:51128); (R-HSA-1655829); (R-HSA-204005); (R-HSA-2132295); (R-HSA-5694530); (R-HSA-8963888); (R-HSA-9705671); (R-HSA-983170)", "pathway_count": 8, "publication_count": 295, "publication_id_list": "10036229;10064069;10064083;10072072;10397761;10428864;10445031;10480952;10540230;10559958;10559959;10593899;10600378;10631941;10631952;10639150;10644685;10652252;10679020;10747087;10748235;10777614;10788476;10805775;10809954;10825291;10903204;10982397;11035026;11160214;11163199;11237011;11283257;11285137;11306556;11514579;11529500;11684289;11790530;11813165;11853874;11927603;12019269;12070132;12078484;12198549;12235121;12237308;12436109;12436110;12518019;12645939;12692549;12692552;12742663;12748383;12759408;14645851;14681859;14718384;14731593;14732096;15037235;15208624;15286279;15550381;15749704;15911768;15927284;16129679;16181339;16242130;16303754;16465444;16473882;16495487;16618111;16624868;16824007;16912714;17005010;17010120;17038314;17056546;17088086;17142755;17192411;17283181;17287728;17309654;17316621;17449569;17499046;17562788;17607000;17656363;17684057;18025080;18046453;18283111;18287528;18292509;1848237;18843296;19119025;19164740;19193869;19261456;19265014;19269366;19274794;19342655;19361863;19426129;1956401;19564404;19566487;19575639;19638414;19656848;19851281;20068231;2038058;20427317;20477988;20533886;20545907;20605430;20679433;20805473;20966969;21050182;21116285;2121367;21441454;21478858;21525241;21532587;21689688;21878990;2190094;22013193;22157747;22675024;22941947;23378591;23433038;23479643;23698585;23852824;23864707;2391366;24119662;24275569;2450918;24714562;24917561;25202031;25406594;25418920;25492864;25586378;25619252;25619253;26992070;27862975;28904123;29242379;30315122;30429286;30779550;30833945;31154438;31217245;31848261;31850239;31875875;32157095;32353859;32358066;32387766;32428392;32589897;32726803;32728199;32938616;32953130;32979938;33024073;33060197;33097660;33110251;33186557;33298915;33349665;33360543;33372174;33372854;33396605;33440148;33479219;33495715;33514628;33537174;33567255;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33963333;33964306;33968037;33989516;33990585;34021074;34054808;34084167;34110168;34166398;34171305;34239064;34290409;34290717;34341353;34357683;34375313;34400613;34439781;34452305;34471099;34502139;34509645;34597346;35051231;35102342;35318648;35580925;35643212;36010968;36241641;36369712;37051252;38687799;4345202;7481823;7592972;7642652;7650016;7667286;7876241;8046351;8134367;8145819;8148318;8156598;8221884;8313912;8342042;8397411;8415765;8620540;8626595;8642258;8663406;8674110;8687433;8849454;8909537;8939989;8947036;9075930;9094723;9150144;9177194;9202021;9307973;9311912;9312039;9395526;9472029;9488713;9497313;9539769;9545226;9605141;9606180;9634703;9647643;9659902", "class_list": "", "function": "Functional overlap between the mammalian Sar1a and Sar1b paralogs in vivo., [RefSeq, PubMed]; SAR1B senses leucine levels to regulate mTORC1 signalling., [RefSeq, PubMed]; Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease., [RefSeq, PubMed]; Small GTPase that cycles between an active GTP-bound and an inactive GDP-bound state and mainly functions in vesicle-mediated endoplasmic reticulum (ER) to Golgi transport. The active GTP-bound form inserts into the endoplasmic reticulum membrane where it recruits the remainder of the coat protein complex II/COPII (PubMed:23433038, PubMed:32358066, PubMed:33186557, PubMed:36369712). The coat protein complex II assembling and polymerizing on endoplasmic reticulum membrane is responsible for both the sorting of cargos and the deformation and budding of membranes into vesicles destined to the Golgi (PubMed:23433038, PubMed:32358066, PubMed:33186557). In contrast to SAR1A, SAR1B specifically interacts with the cargo receptor SURF4 to mediate the transport of lipid-carrying lipoproteins including APOB and APOA1 from the endoplasmic reticulum to the Golgi and thereby, indirectly regulates lipid homeostasis (PubMed:32358066, PubMed:33186557). In addition to its role in vesicle trafficking, can also function as a leucine sensor regulating TORC1 signaling and more indirectly cellular metabolism, growth and survival. In absence of leucine, interacts with the GATOR2 complex via MIOS and inhibits TORC1 signaling. The binding of leucine abrogates the interaction with GATOR2 and the inhibition of the TORC1 signaling. This function is completely independent of the GTPase activity of SAR1B (PubMed:34290409)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "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": "D3DQA4;Q567T4", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;2.3.1.-;3.6.1.5;3.6.1.-;3.4.14.1;3.6.5.4;2.7.11.1;3.6.-.-;2.7.1.137;3.6.1.15;3.4.18.1;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0003925 G protein activity;GO:0140785 amino acid sensor activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005765 lysosomal membrane;GO:0005789 endoplasmic reticulum membrane;GO:0012507 ER to Golgi transport vesicle membrane", "go_biological_process": "GO:0032368 regulation of lipid transport;GO:0090110 COPII-coated vesicle cargo loading;GO:0006886 intracellular protein transport;GO:0042953 lipoprotein transport;GO:0055088 lipid homeostasis", "synthesized_glycan_count": 0, "hit_score": 29.6, "record_id": "Q9Y6B6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y267-1", "uniprot_id": "S22AE_HUMAN", "mass": 66684.0, "length": 594, "protein_name": "Solute carrier family 22 member 14", "gene_name": "SLC22A14", "organism": "Human", "refseq_name": "solute carrier family 22 member 14", "refseq_ac": "NP_001306962", "gene_names_uniprotkb": "SLC22A14; OCTL2; ORCTL4", "gene_names_refseq": "OCTL2; OCTL4; ORCTL4; SLC22A14", "protein_names_uniprotkb": "Solute carrier family 22 member 14; ORCTL-4; Organic cation transporter-like 4", "protein_names_refseq": "organic cation transporter-like 4; organic cationic transporter-like 4; solute carrier family 22 (organic cation transporter), member 14; solute carrier family 22 member 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:9389)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10072596;10231028;11237011;20424473;29557506;30429286;32983136;33882315", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Riboflavin transporter localized at the inner mitochondrial membrane of the spermatozoa midpiece, which is required for male fertility (By similarity). SLC22A14-mediated riboflavin transport is essential for spermatozoa energy generation and motility: riboflavin is the precursor of FMN and FAD, which are coenzymes of many enzymes in the TCA cycle (the citric acid cycle) in mitochondria (By similarity). Required for sperm motility and normal sperm flagellar structure (By similarity)., [UniProtKB, UniProtKB]; This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 3. The encoded protein is a transmembrane protein which is thought to transport small molecules and since this protein is conserved among several species, it is suggested to have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [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": 3, "reported_glycation": 0, "reported_snv": 23, "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": "A0AVS9;A1L4H6;B2RCX3;Q6DJT3", "ec_number_list": "", "go_molecular_function": "GO:0032217 riboflavin transmembrane transporter activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005743 mitochondrial inner membrane;GO:0097228 sperm principal piece;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9Y267-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08294-1", "uniprot_id": "SODE_HUMAN", "mass": 25851.0, "length": 240, "protein_name": "Extracellular superoxide dismutase [Cu-Zn]", "gene_name": "SOD3", "organism": "Human", "refseq_name": "extracellular superoxide dismutase [Cu-Zn] preproprotein", "refseq_ac": "NP_003093", "gene_names_uniprotkb": "SOD3", "gene_names_refseq": "EC-SOD; SOD3", "protein_names_uniprotkb": "Extracellular superoxide dismutase [Cu-Zn]; 1.15.1.1; EC-SOD", "protein_names_refseq": "extracellular superoxide dismutase [Cu-Zn] preproprotein; superoxide dismutase 3, extracellular; testicular tissue protein Li 175", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); heart disease (Disease Ontology:DOID:114); polyneuropathy (Disease Ontology:DOID:1389); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); coronary artery disease (Disease Ontology:DOID:3393); pneumonia (Disease Ontology:DOID:552); myocardial infarction (Disease Ontology:DOID:5844); oral cavity cancer (Disease Ontology:DOID:8618); intermediate coronary syndrome (Disease Ontology:DOID:8805); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:6649); (R-HSA-3299685); (R-HSA-9818027)", "pathway_count": 3, "publication_count": 140, "publication_id_list": "10029572;10514471;10521424;10656833;10706635;10733945;10821856;10833429;10919671;10982;11018045;11139407;11237011;11309284;11507097;11518528;11863456;11886899;11912930;12234984;12235164;12446202;12506115;12829378;14619883;15044467;15046979;1505778;15064408;15280035;15317809;15448164;15520857;15590625;15596429;15728556;15927447;16087389;16314513;16335952;16371425;16401067;16615992;1668270;16750198;16880213;17234762;17275676;17519234;1763037;17707404;17942419;18358825;18703498;18936159;19028565;19159218;19219623;19273602;19289127;19542232;19608619;1999334;20070187;20367259;20460467;20690882;2071038;20966810;21215271;21385867;21393238;21775727;21967640;22493009;22667998;22869735;22910329;22995213;23027624;23152058;23164639;23454490;23455484;24041992;24715725;25002527;25047527;27100828;27653015;27756681;28985506;29557506;29693710;29741879;29959055;30429286;30459171;31597407;31844290;32284348;32601262;33043019;33462411;33774477;33968037;3457020;3476950;35051231;3532102;36010968;3619451;3693360;37074911;37992301;38141889;39128081;5389100;60;6286671;6961438;7021796;7172448;7487923;7662997;7959763;8034674;807573;8379940;8428933;8452552;8546689;8663465;8864862;9240432;9295278;9369223;9639555;9726962;9923614", "class_list": "", "function": "Chromosome mapping of SOD3 to chromosome band 4p15.3-->p15.1., [RefSeq, PubMed]; Deciphering MMP9's dual role in regulating SOD3 through protein-protein interactions. Erratum:[Can J Physiol Pharmacol. 2025 Dec 1;103(12):445-446. doi: 10.1139/cjpp-2025-0306. PMID: 41201386], [RefSeq, PubMed]; Overexpression of Extracellular Superoxide Dismutase 3 Inhibits Cancer Cell Growth and Migration in Colorectal Cancer., [RefSeq, PubMed]; Protect the extracellular space from toxic effect of reactive oxygen intermediates by converting superoxide radicals into hydrogen peroxide and oxygen., [UniProtKB]; SOD3 regulates FLT1 to affect bone metabolism by promoting osteogenesis and inhibiting adipogenesis through PI3K/AKT and MAPK pathways., [RefSeq, PubMed]; This gene encodes a member of the superoxide dismutase (SOD) protein family. SODs are antioxidant enzymes that catalyze the conversion of superoxide radicals into hydrogen peroxide and oxygen, which may protect the brain, lungs, and other tissues from oxidative stress. Proteolytic processing of the encoded protein results in the formation of two distinct homotetramers that differ in their ability to interact with the extracellular matrix (ECM). Homotetramers consisting of the intact protein, or type C subunit, exhibit high affinity for heparin and are anchored to the ECM. Homotetramers consisting of a proteolytically cleaved form of the protein, or type A subunit, exhibit low affinity for heparin and do not interact with the ECM. A mutation in this gene may be associated with increased heart disease risk. [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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 2, "reported_snv": 6, "reported_interactions": 0, "missing_score": 8686, "biomarker_type": "", "glycan_count": 91, "disease_count": 12, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5U781;Q6FHA2", "ec_number_list": "1.8.-.-;1.15.1.1;7.2.2.8;2.3.1.48;2.3.1.-;1.11.1.-;1.7.-.-;1.14.12.-", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0008201 heparin binding;GO:0005507 copper ion binding;GO:0004784 superoxide dismutase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0070062 extracellular exosome", "go_biological_process": "GO:0019430 removal of superoxide radicals", "synthesized_glycan_count": 0, "hit_score": 23.4, "record_id": "P08294-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q68CJ6-1", "uniprot_id": "SLIP_HUMAN", "mass": 91132.0, "length": 796, "protein_name": "Nuclear GTPase SLIP-GC", "gene_name": "NUGGC", "organism": "Human", "refseq_name": "nuclear GTPase SLIP-GC", "refseq_ac": "NP_001010906", "gene_names_uniprotkb": "NUGGC; C8orf80; HMFN0672", "gene_names_refseq": "C8orf80; HMFN0672; NUGGC; SLIP-GC; SLIPGC", "protein_names_uniprotkb": "Nuclear GTPase SLIP-GC; 3.6.1.-; Speckled-like pattern in the germinal center", "protein_names_refseq": "GTPase SLIP-GC; nuclear GTPase SLIP-GC; speckled-like pattern in the germinal center", "tax_id": 9606, "disease": "", "pathway": " (hsa:389643)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;15221005;19734146;26992070;28832583;28834231;29493099;29557506;29769354;29786170;31844290;32938616;33691108;33968037;35051231;35561310", "class_list": "", "function": "Nuclear GTPase found in germinal center B-cells, where it may inhibit function of the activation-induced cytidine deaminase AICDA (PubMed:19734146). Reduces somatic hypermutation in B-cells which may enhance genome stability (By similarity)., [UniProtKB, UniProtKB, PubMed]; SLIP-GC is a replication-related protein in germinal center B cells whose reduction is toxic to cells through an AICDA-dependent 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q6ZP73", "ec_number_list": "", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0016607 nuclear speck", "go_biological_process": "GO:0033262 regulation of nuclear cell cycle DNA replication;GO:0043066 negative regulation of apoptotic process;GO:0071222 cellular response to lipopolysaccharide", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q68CJ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WVI0-1", "uniprot_id": "UQCC5_HUMAN", "mass": 8696.0, "length": 70, "protein_name": "Ubiquinol-cytochrome c reductase complex assembly factor 5", "gene_name": "UQCC5", "organism": "Human", "refseq_name": "ubiquinol-cytochrome c reductase complex assembly factor 5", "refseq_ac": "NP_001118239", "gene_names_uniprotkb": "UQCC5; C3orf78; SMIM4", "gene_names_refseq": "C3orf78; SMIM4; UQCC5", "protein_names_uniprotkb": "Ubiquinol-cytochrome c reductase complex assembly factor 5; Small integral membrane protein 4", "protein_names_refseq": "UPF0640 protein C3orf78; small integral membrane protein 4; ubiquinol-cytochrome c reductase complex assembly factor 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:440957); (R-HSA-9865881)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "11237011;21278747;23168492;24385928;24715725;25008109;25418920;25605331;26154972;26992070;27600516;27846572;27862975;28380382;28673544;28834231;28844695;29242379;29243944;29493099;29557506;29632711;29786170;30429286;31844290;31848261;31998317;32157095;32488085;32502341;32929120;32983136;33592498;34969438;35051231;35580925;36284347;37938771", "class_list": "", "function": "Defining the interactome of the human mitochondrial ribosome identifies SMIM4 and TMEM223 as respiratory chain assembly factors. Publication Status: Online-Only, [RefSeq, PubMed]; Required for the assembly and stability of the mitochondrial ubiquinol-cytochrome c reductase complex (complex III (CIII) or cytochrome b-c1 complex), a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain (ETC) which drives oxidative phosphorylation (By similarity). Mediates early complex III biogenesis (By similarity). Participates in regulating the levels of electron transport chain proteins, and therefore energy supply, in response to changes in energy demand (By similarity). Also involved in the first steps of cytochrome c oxidase complex (complex IV) assembly (PubMed:34969438)., [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0097177 mitochondrial ribosome binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0033617 mitochondrial respiratory chain complex IV assembly;GO:0034551 mitochondrial respiratory chain complex III assembly", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q8WVI0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5TGI4-1", "uniprot_id": "SAMD5_HUMAN", "mass": 19231.0, "length": 173, "protein_name": "Sterile alpha motif domain-containing protein 5", "gene_name": "SAMD5", "organism": "Human", "refseq_name": "sterile alpha motif domain-containing protein 5", "refseq_ac": "NP_001025231", "gene_names_uniprotkb": "SAMD5; SAMDC1", "gene_names_refseq": "SAMD5; dJ875H10.1", "protein_names_uniprotkb": "Sterile alpha motif domain-containing protein 5; SAM domain-containing protein 5", "protein_names_refseq": "SAM domain containing 1; SAM domain-containing protein 5; sterile alpha motif domain-containing protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:389432)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;25505266;28388653;28834231", "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": 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_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:1902531 regulation of intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q5TGI4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5BVD1-1", "uniprot_id": "TTMP_HUMAN", "mass": 24295.0, "length": 217, "protein_name": "TPA-induced transmembrane protein", "gene_name": "C3orf52; TTMP", "organism": "Human", "refseq_name": "TPA-induced transmembrane protein isoform 1", "refseq_ac": "NP_001165218", "gene_names_uniprotkb": "C3orf52; TTMP; C3orf52", "gene_names_refseq": "C3orf52; HYPT15; TTMP", "protein_names_uniprotkb": "TPA-induced transmembrane protein", "protein_names_refseq": "TPA induced trans-membrane protein; TPA-induced transmembrane protein isoform 1; TPA-induced transmembrane protein; novel endoplasmic reticulum transmembrane protein", "tax_id": 9606, "disease": "hypotrichosis 15 (Disease Ontology:DOID:0060968)", "pathway": " (hsa:79669)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;15737651;29314611;30626607;32336749;34309526;35051231", "class_list": "", "function": "A novel homozygous frameshift variant in the C3orf52 gene underlying isolated hair loss in a consanguineous family., [RefSeq, PubMed]; Has a role in LIPH-mediated synthesis of 2-acyl lysophosphatidic acid (LPA). LPA is a bioactive lipid mediator involved in different biological processes, and necessary to promote hair formation and growth., [UniProtKB, PubMed]; Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis., [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": "B4DNV2;B4E0Z2;Q96AJ4;Q9H5Q1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q5BVD1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43711-1", "uniprot_id": "TLX3_HUMAN", "mass": 31867.0, "length": 291, "protein_name": "T-cell leukemia homeobox protein 3", "gene_name": "TLX3", "organism": "Human", "refseq_name": "T-cell leukemia homeobox protein 3", "refseq_ac": "NP_066305", "gene_names_uniprotkb": "TLX3; HOX11L2", "gene_names_refseq": "HOX11L2; RNX; TLX3", "protein_names_uniprotkb": "T-cell leukemia homeobox protein 3; Homeobox protein Hox-11L2", "protein_names_refseq": "T-cell leukemia homeobox protein 3; homeo box 11-like 2; homeobox protein Hox-11L2", "tax_id": 9606, "disease": "congenital central hypoventilation syndrome (Disease Ontology:DOID:0060731)", "pathway": " (hsa:30012)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "12130513;24997618;26852660;32161166;32387766;33981976;35051231;36215666", "class_list": "", "function": "HOX11L2 expression defines a clinical subtype of pediatric T-ALL associated with poor prognosis., [RefSeq, PubMed]; Immunophenotyping with CD135 and CD117 predicts the FLT3, IL-7R and TLX3 gene mutations in childhood T-cell acute leukemia., [RefSeq, PubMed]; Studies suggest that homeobox protein TLX3 expression is not an indicator for the prognosis of pediatric T cell acute lymphocytic leukemia (T-ALL)., [RefSeq, PubMed]; The protein encoded by this gene is an orphan homeobox protein that encodes a DNA-binding nuclear transcription factor. A translocation [t(5;14)(q35;q32)] involving this gene is associated with T-cell acute lymphoblastic leukemia (T-ALL) in children and young adults. [provided by RefSeq, Nov 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": 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": "Q96AD3", "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:0006357 regulation of transcription by RNA polymerase II;GO:0048513 animal organ development", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "O43711-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5JXX7-1", "uniprot_id": "TMM31_HUMAN", "mass": 19813.0, "length": 168, "protein_name": "Transmembrane protein 31", "gene_name": "TMEM31", "organism": "Human", "refseq_name": "transmembrane protein 31", "refseq_ac": "NP_872347", "gene_names_uniprotkb": "TMEM31", "gene_names_refseq": "TMEM31", "protein_names_uniprotkb": "Transmembrane protein 31", "protein_names_refseq": "testicular secretory protein Li 58; transmembrane protein 31", "tax_id": 9606, "disease": "", "pathway": " (hsa:203562)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "32938616;33968037", "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": 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": "Q8NHR4", "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": "Q5JXX7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NWH9-1", "uniprot_id": "SLTM_HUMAN", "mass": 117148.0, "length": 1034, "protein_name": "SAFB-like transcription modulator", "gene_name": "SLTM", "organism": "Human", "refseq_name": "SAFB-like transcription modulator isoform b", "refseq_ac": "NP_001013865", "gene_names_uniprotkb": "SLTM; MET", "gene_names_refseq": "Met; SLTM", "protein_names_uniprotkb": "SAFB-like transcription modulator; Modulator of estrogen-induced transcription", "protein_names_refseq": "SAFB-like transcription modulator isoform b; modulator of estrogen-induced transcription", "tax_id": 9606, "disease": "", "pathway": " (hsa:79811)", "pathway_count": 1, "publication_count": 96, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;16964243;17081983;17287340;18212344;18220336;18452278;18669648;18691976;18707149;18767875;19007248;19086053;19369195;19608861;19651622;19664994;19664995;19691289;20068230;20068231;20112406;20166139;21406692;22299025;23186163;23481700;23584533;24129315;24275569;24715725;24958902;25218447;25367160;25469497;25576301;25645385;25755297;25880248;26154972;26375851;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;30315122;30379171;30429286;31844290;32157095;32387766;32502341;32938616;32983136;33123756;33141586;33284837;33298915;33392160;33592498;33936100;33968037;33981976;34019948;34171305;34932366;35051231;35580925;36010968;36241641;36284347;37772583;37996058;38110666;38470543;38981227;39302247;40596516;40914422", "class_list": "", "function": "CircSLTM knockdown attenuates chondrocyte inflammation, apoptosis and ECM degradation in osteoarthritis by regulating the miR-515-5p/VAPB axis., [RefSeq, PubMed]; Deubiquitinase BRCC3 promotes the migration, invasion and EMT progression of colon adenocarcinoma by stabilizing MET expression., [RefSeq, PubMed]; Impact of SMAD2 and MET Expression on Lymph Node Metastasis of HER2-positive Gastric Cancer Cells., [RefSeq, PubMed]; MET exon 14 skipping mutation drives cancer progression and recurrence via activation of SMAD2 signalling., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SPOP promotes CREB5 ubiquitination to inhibit MET signaling in liver cancer., [RefSeq, PubMed]; When overexpressed, acts as a general inhibitor of transcription that eventually leads to apoptosis., [UniProtKB, UniProtKB, 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": 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": 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": 2, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 42, "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": "A8K5V8;B2RTX3;Q2VPK7;Q52MB3;Q658J7;Q6ZNF2;Q86TK6;Q9H7C3;Q9H8U9", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q9NWH9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TEQ0-1", "uniprot_id": "SNX29_HUMAN", "mass": 91254.0, "length": 813, "protein_name": "Sorting nexin-29", "gene_name": "SNX29", "organism": "Human", "refseq_name": "sorting nexin-29 isoform 1", "refseq_ac": "NP_115543", "gene_names_uniprotkb": "SNX29; RUNDC2A", "gene_names_refseq": "A-388D4.1; RUNDC2A; SNX29", "protein_names_uniprotkb": "Sorting nexin-29; RUN domain-containing protein 2A", "protein_names_refseq": "RUN domain containing 2A; RUN domain-containing protein 2A; sorting nexin-29 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:92017)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "11237011;17081983;19773279;23186163;23358160;24715725;25469497;25645385;25892735;26154972;26375851;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32938616;32983136;33141586;33143498;33298915;33592498;33717175;33912179;33936100;33968037;34357683;34561969;34932366;35051231;35154160;35580925;36241641;36284347;36581221", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SNX29, a new susceptibility gene shared with major mental disorders in Han Chinese population., [RefSeq, PubMed]; The strongest associated SNP in the combined analysis, including Danish and German-Dutch samples, was rs12922317 in RUNDC2A., [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": 28, "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": "B5MDW2;Q8N2X2;Q9HA26", "ec_number_list": "", "go_molecular_function": "GO:0035091 phosphatidylinositol binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q8TEQ0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43313-1", "uniprot_id": "ATMIN_HUMAN", "mass": 88348.0, "length": 823, "protein_name": "ATM interactor", "gene_name": "ATMIN", "organism": "Human", "refseq_name": "ATM interactor isoform 2", "refseq_ac": "NP_001287657", "gene_names_uniprotkb": "ATMIN; KIAA0431; ZNF822", "gene_names_refseq": "ASCIZ; ATMIN; ZNF822", "protein_names_uniprotkb": "ATM interactor; ASCIZ; ATM/ATR-substrate CHK2-interacting zinc finger protein; Zinc finger protein 822", "protein_names_refseq": "ATM INteracting protein; ATM interactor isoform 2; ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein; ATM/ATR-substrate CHEK2-interacting zinc finger protein; ATM/ATR-substrate CHK2-interacting zinc finger protein; zinc finger protein 822", "tax_id": 9606, "disease": "", "pathway": " (hsa:23300)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;15933716;17525732;18433721;18728389;22167198;25576301;28218747;28228285;28832583;29242379;29557506;29786170;30699358;31092671;31481498;31844290;32157095;32161166;32387766;32502341;32938616;32983136;33717175;33968037;34087483;34148137;34321465;34509645;35051231;35580925;36010968;38321024", "class_list": "", "function": "ASCIZ (ATMIN) is structurally related to the yeast ATM/ATR substrate Mdt1 (Pin4/Ybl051c); both proteins contain SQ/TQ cluster domains and interact with N-terminal FHA domains of CHK2/Rad53 kinases. Review article, [RefSeq, PubMed]; ASCIZ acts as a lesion-specific focus scaffold in a Rad51-dependent pathway that resolves cytotoxic repair intermediates, most likely single-stranded DNA gaps, resulting from MLH1-dependent processing of base lesions. GeneRIF: ATM/ATR-Substrate Chk2-Interacting Zn2+-finger protein (ASCIZ) required for repair of abasic sites after methylating and oxidative DNA damage but not double-strand breaks. Forms DNA damage-induced foci with RAD51 and ssDNA. ASCIZ foci depend on MLH1., [RefSeq, PubMed]; ATMIN Suppresses Metastasis by Altering the WNT-Signaling Pathway via PARP1 in MSI-High Colorectal Cancer., [RefSeq, PubMed]; ATMIN defines a novel NBS1-independent pathway of ATM signalling., [RefSeq, PubMed]; ATMIN is located close to FRA16D and is commonly lost in lung adenocarcinoma (LUAD)and was associated with reduced patient survival. ATMIN is a tumor suppressor in LUAD; fragility at chr16q23 correlates with loss of ATMIN in human LUAD., [RefSeq, PubMed]; MicroRNA-361-5p slows down gliomas development through regulating UBR5 to elevate ATMIN protein expression. Publication Status: Online-Only, [RefSeq, PubMed]; PPARgamma promotes ATM signaling and is essential for UBR5 activity targeting ATM interactor (ATMIN)., [RefSeq, PubMed]; These data suggest that ASCIZ may affect the choice between competing base repair pathways in a manner that reduces the amount of substrates available for Ig gene conversion. Erratum:[Biochem Biophys Res Commun. 2008 Dec 5;377(1):326], [RefSeq, PubMed]; Transcription factor ATMIN facilitates chemoresistance in nasopharyngeal carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Transcription factor. Plays a crucial role in cell survival and RAD51 foci formation in response to methylating DNA damage. Involved in regulating the activity of ATM in the absence of DNA damage. May play a role in stabilizing ATM. Binds to the DYNLL1 promoter and activates its transcription., [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": 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": "A8K4H8;Q68DC9", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0070840 dynein complex binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0016604 nuclear body", "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:0006974 DNA damage response;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "O43313-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60934-1", "uniprot_id": "NBN_HUMAN", "mass": 84959.0, "length": 754, "protein_name": "Nibrin", "gene_name": "NBN", "organism": "Human", "refseq_name": "nibrin isoform 2", "refseq_ac": "NP_001019859", "gene_names_uniprotkb": "NBN; NBS1; NBS; P95", "gene_names_refseq": "AT-V1; AT-V2; ATV; NBN; NBS1; NBS; P95; hNbs1", "protein_names_uniprotkb": "Nibrin; Cell cycle regulatory protein p95; Nijmegen breakage syndrome protein 1; hNbs1", "protein_names_refseq": "Nijmegen breakage syndrome 1 (nibrin); cell cycle regulatory protein p95; nibrin isoform 2; p95 protein of the MRE11/RAD50 complex", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); aplastic anemia (Disease Ontology:DOID:12449); breast cancer (Disease Ontology:DOID:1612); rectum cancer (Disease Ontology:DOID:1993); ovarian cancer (Disease Ontology:DOID:2394); T-cell acute lymphoblastic leukemia (Disease Ontology:DOID:5603); Nijmegen breakage syndrome (Disease Ontology:DOID:7400); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:4683); (R-HSA-2559586); (R-HSA-5685938); (R-HSA-5685939); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693548); (R-HSA-5693554); (R-HSA-5693565); (R-HSA-5693568); (R-HSA-5693571); (R-HSA-5693579); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6804756); (R-HSA-69473); (R-HSA-912446); (R-HSA-9701192); (R-HSA-9704331); (R-HSA-9704646); (R-HSA-9709570); (R-HSA-9709603)", "pathway_count": 22, "publication_count": 532, "publication_id_list": 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"class_list": "", "function": "Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S and G2 phases. The complex (1) mediates the end resection of damaged DNA, which generates proper single-stranded DNA, a key initial steps in HR, and is (2) required for the recruitment of other repair factors and efficient activation of ATM and ATR upon DNA damage. The MRN complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11, to initiate end resection, which is required for single-strand invasion and recombination. Within the MRN complex, nbn acts as a protein-protein adapter, which specifically recognizes and binds phosphorylated proteins, promoting their recruitment to DNA damage sites. Recruits mre11 and rad50 components of the MRN complex to DSBs in response to DNA damage. Promotes the recruitment of PI3/PI4-kinase family members atm, atr, and probably DNA-PKcs to the DNA damage sites, activating their functions. Mediates the recruitment of phosphorylated rbbp8/CtIP to DSBs, leading to cooperation between the MRN complex and rbbp8/CtIP to initiate end resection., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]., [RefSeq]; NBS1 lactylation is required for efficient DNA repair and chemotherapy resistance., [RefSeq, PubMed]; Simultaneous Nbs1 and p53 inactivation in neural progenitors triggers high-grade gliomas., [RefSeq, PubMed]; Suppression of NBS1 Upregulates CyclinB to Induce Olaparib Sensitivity in Ovarian Cancer., [RefSeq, PubMed]; The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation., [RefSeq, PubMed]; XRCC3 and NBS1 gene polymorphisms modulate the risk of pre-oral cancer and oral cancer in the North Indian population., [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": 35, "reported_mutagensis": 32, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 10, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R626;B2RNC5;O60672;Q32NF7;Q53FM6;Q63HR6;Q7LDM2", "ec_number_list": "", "go_molecular_function": "GO:0003684 damaged DNA binding;GO:0042393 histone binding;GO:0043539 protein serine/threonine kinase activator activity;GO:0140031 phosphorylation-dependent protein binding;GO:0140463 chromatin-protein adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0016605 PML body", "go_biological_process": "GO:1990166 protein localization to site of double-strand break;GO:0030174 regulation of DNA-templated DNA replication initiation;GO:0097681 double-strand break repair via alternative nonhomologous end joining;GO:0043247 telomere maintenance in response to DNA damage;GO:0000723 telomere maintenance", "synthesized_glycan_count": 0, "hit_score": 53.7, "record_id": "O60934-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TBK2-1", "uniprot_id": "SETD6_HUMAN", "mass": 53189.0, "length": 473, "protein_name": "N-lysine methyltransferase SETD6", "gene_name": "SETD6", "organism": "Human", "refseq_name": "N-lysine methyltransferase SETD6 isoform a", "refseq_ac": "NP_001153777", "gene_names_uniprotkb": "SETD6", "gene_names_refseq": "SETD6", "protein_names_uniprotkb": "N-lysine methyltransferase SETD6; 2.1.1.-; SET domain-containing protein 6", "protein_names_refseq": "N-lysine methyltransferase SETD6 isoform a; N-lysine methyltransferase SETD6; SET domain-containing protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:79918); (R-HSA-3214841)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10949293;11237011;11959841;12123582;12130538;12453418;12540855;12670868;14536086;14690610;14992727;15145825;15235609;15964846;16118227;16199523;16292313;16519522;16682010;16805913;17021013;17500065;17544230;17707229;18172012;19808676;21131967;21196496;21515635;21779408;21832073;22099308;22939622;23324626;23481700;25880248;26992070;28832583;28834231;28904123;29557506;30189201;31844290;32157095;32387766;32488085;32502341;32938616;33912179;33968037;34039605;34211107;34932366;35051231;35550916;35561310;35580925;35694846;36215666;36241641;36300937;36604642;37938771", "class_list": "", "function": "BRD4 methylation by the methyltransferase SETD6 regulates selective transcription to control mRNA translation. Publication Status: Online-Only, [RefSeq, PubMed]; Investigating the functional role of SETD6 in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Methylation of the NF-kappaB results in repression of NF-kappaB signaling GeneRIF: SETD6 mono-methylate Rela on K310 and negatively regulates RelA transcription activity, [RefSeq, PubMed]; Protein-lysine N-methyltransferase. Monomethylates 'Lys-310' of the RELA subunit of NF-kappa-B complex, leading to down-regulation of NF-kappa-B transcription factor activity (PubMed:21131967, PubMed:21515635, PubMed:30189201). Monomethylates 'Lys-8' of H2AZ (H2AZK8me1) (PubMed:23324626). Required for the maintenance of embryonic stem cell self-renewal (By similarity). Methylates PAK4., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; SETD6 Regulates E2-Dependent Human Papillomavirus Transcription., [RefSeq, PubMed]; SETD6 monomethylates H2AZ on lysine 7., [RefSeq, PubMed]; Structure-function conservation between the methyltransferases SETD3 and SETD6., [RefSeq, PubMed]; TWIST1 methylation by SETD6 selectively antagonizes LINC-PINT expression in glioma., [RefSeq, PubMed]; This gene encodes a methyltransferase that adds a methyl group to the histone H2AZ, which is involved in nuclear receptor-dependent transcription. The protein also interacts with several endogenous proteins which are involved in nuclear hormone receptor signaling. A related pseudogene is located on chromosome 2. Alternative splicing results in multiple transcript variants. [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": 6, "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": "A8K380;B5ME38;Q9H787", "ec_number_list": "2.1.1.-;2.1.1.364;2.1.1.359;2.1.1.361;2.1.1.355;2.1.1.354;2.1.1.362", "go_molecular_function": "GO:0051059 NF-kappaB binding;GO:0016279 protein-lysine N-methyltransferase activity;GO:1904047 S-adenosyl-L-methionine binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0048863 stem cell differentiation;GO:0050727 regulation of inflammatory response;GO:0019827 stem cell population maintenance;GO:0018026 peptidyl-lysine monomethylation;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q8TBK2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UIV8-1", "uniprot_id": "SPB13_HUMAN", "mass": 44276.0, "length": 391, "protein_name": "Serpin B13", "gene_name": "SERPINB13", "organism": "Human", "refseq_name": "serpin B13 isoform 1", "refseq_ac": "NP_001294852", "gene_names_uniprotkb": "SERPINB13; PI13", "gene_names_refseq": "HSHUR7SEQ; HUR7; PI13; SERPINB13; headpin", "protein_names_uniprotkb": "Serpin B13; HaCaT UV-repressible serpin; Headpin; Hurpin; PI-13; Peptidase inhibitor 13; Proteinase inhibitor 13", "protein_names_refseq": "HURPIN; PI-13; UV-B repressed sequence, HUR 7; haCaT UV-repressible serpin; peptidase inhibitor 13; protease inhibitor 13 (hurpin, headpin); proteinase inhibitor 13; serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13; serpin B13 isoform 1; serpin B13; serpin peptidase inhibitor, clade B (ovalbumin), member 13", "tax_id": 9606, "disease": "alpha 1-antitrypsin deficiency (Disease Ontology:DOID:13372)", "pathway": " (hsa:5275); (R-HSA-8939242)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "10512713;10527881;11004515;11237011;11313015;12504904;12809493;19690890;21723253;22593614;23034403;29632711;34270940;35051231", "class_list": "", "function": "Clade B serpins help to maintain homeostasis by inducing protective humoral immunity, [RefSeq, PubMed]; May play a role in the proliferation or differentiation of keratinocytes., [UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by RUNX1. This gene is downregulated in many types of cancer. [provided by RefSeq, Jan 2017]., [RefSeq]; These data demonstrate that RUNX1 is an important regulator of SERPINB13 and cathepsin K 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K2Q8;Q3MII2;Q9HCX1;Q9UBW1;Q9UKG0", "ec_number_list": "", "go_molecular_function": "GO:0002020 protease binding;GO:0004867 serine-type endopeptidase inhibitor activity;GO:0004869 cysteine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030162 regulation of proteolysis;GO:0009411 response to UV;GO:0010951 negative regulation of endopeptidase activity;GO:1902173 negative regulation of keratinocyte apoptotic process", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9UIV8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96FV2-1", "uniprot_id": "SCRN2_HUMAN", "mass": 46597.0, "length": 425, "protein_name": "Secernin-2", "gene_name": "SCRN2", "organism": "Human", "refseq_name": "secernin-2 isoform 2", "refseq_ac": "NP_001138495", "gene_names_uniprotkb": "SCRN2", "gene_names_refseq": "SCRN2; Ses2", "protein_names_uniprotkb": "Secernin-2", "protein_names_refseq": "epididymis secretory sperm binding protein; secernin-2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:90507)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11237011;23186163;23481700;24275569;24714562;24715725;25505266;25576301;26154972;26728094;26992070;27600516;27846572;27920218;28063628;28218747;28832583;28834231;28904123;29242379;29393594;29557506;29632046;29769354;30573663;30833945;31217245;31844290;32157095;32350084;32387766;32488085;32938616;33298915;33392160;33912179;34171305;34357683;34932366;35051231;35318648;35561310;35580925;36284347;36581221", "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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K3N1;B7Z8S7;E9PBV5;Q96AC3;Q9BU04", "ec_number_list": "", "go_molecular_function": "GO:0016805 dipeptidase activity;GO:0070004 cysteine-type exopeptidase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q96FV2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NVD3-1", "uniprot_id": "SETD4_HUMAN", "mass": 50416.0, "length": 440, "protein_name": "SET domain-containing protein 4", "gene_name": "SETD4", "organism": "Human", "refseq_name": "SET domain-containing protein 4 isoform 2", "refseq_ac": "NP_001007260", "gene_names_uniprotkb": "SETD4; C21orf18; C21orf27", "gene_names_refseq": "C21orf18; C21orf27; SETD4", "protein_names_uniprotkb": "SET domain-containing protein 4; 2.1.1.-; 2.1.1.364", "protein_names_refseq": "SET domain-containing protein 4 isoform 2; SET domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:54093)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;11707072;14759258;16959974;24738023;25880248;26992070;27600516;27846572;28228285;28832583;28834231;29242379;29557506;29769354;30315122;30429286;30779550;31217245;31308046;31844290;32157095;32357974;32488085;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33936100;33981976;34171305;34932366;35051231;35545041;35580925;36010968;36581221;37879429;37926288", "class_list": "", "function": "High SETD4 expression is associated with Breast Cancer., [RefSeq, PubMed]; Protein-lysine N-methyltransferase that methylates both histones and non-histone proteins (PubMed:31308046, PubMed:35545041, PubMed:37926288). Via its catalytic activity, regulates many processes, including cell proliferation, cell differentiation, inflammatory response and apoptosis. Regulates the inflammatory response by mediating mono- and dimethylation of 'Lys-4' of histone H3 (H3K4me1 and H3K4me2, respectively), leading to activate the transcription of pro-inflammatory cytokines IL6 and TNF (By similarity). Through the catalysis of TBK1 monomethylation, may regulate virus-induced interferon signaling. TBK1 monomethylation enhances its interaction with MAVS, STING and IRF3, hence promoting antiviral interferon signaling (PubMed:37926288). Also involved in the regulation of stem cell quiescence by catalyzing the trimethylation of 'Lys-20' of histone H4 (H4K20me3), thereby promoting heterochromatin formation (PubMed:31308046). In the brain, epigenetically controls quiescence of neural stem cells for sustaining a protected neural stem cell population and maintaining a stem cell reservoir for neurogenesis (By similarity). Involved in proliferation, migration, paracrine and myogenic differentiation of bone marrow mesenchymal stem cells (BMSCs) (By similarity). Through the catalysis of XRCC5/Ku70 trimethylation, regulates BAX-mediated apoptosis. SETD4-catalyzed XRCC5 methylation results in XRCC5 translocation to the cytoplasm, where it interacts with BAX, sequestering it from the mitochondria, hence preventing BAX-mediated apoptosis (PubMed:35545041)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; SETD4 inhibits prostate cancer development by promoting H3K27me3-mediated NUPR1 transcriptional repression and cell cycle arrest., [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": 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": "B4DT14;D3DSG2;D3DSG4;Q8NE19;Q9BU46", "ec_number_list": "2.1.1.364;2.1.1.-;2.1.1.362;2.1.1.361;2.1.1.359;2.1.1.355;2.1.1.354", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0042800 histone H3K4 methyltransferase activity;GO:0046975 histone H3K36 methyltransferase activity;GO:0042799 histone H4K20 methyltransferase activity;GO:0140941 histone H4K20me methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006954 inflammatory response;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0032755 positive regulation of interleukin-6 production;GO:0050729 positive regulation of inflammatory response", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9NVD3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75908-1", "uniprot_id": "SOAT2_HUMAN", "mass": 59896.0, "length": 522, "protein_name": "Sterol O-acyltransferase 2", "gene_name": "SOAT2", "organism": "Human", "refseq_name": "sterol O-acyltransferase 2", "refseq_ac": "NP_003569", "gene_names_uniprotkb": "SOAT2; ACACT2; ACAT2", "gene_names_refseq": "ACACT2; ACAT2; ARGP2; SOAT2", "protein_names_uniprotkb": "Sterol O-acyltransferase 2; 2.3.1.26; ACAT-2; Acyl-coenzyme A:cholesterol acyltransferase 2; Cholesterol acyltransferase 2", "protein_names_refseq": "ACAT-2; acyl Co-A: cholesterol acyltransferase 2; acyl coenzyme A:cholesterol acyltransferase 2; acyl-CoA:cholesterol acyltransferase 2; sterol O-acyltransferase 2", "tax_id": 9606, "disease": "nephrotic syndrome (Disease Ontology:DOID:1184); coronary artery disease (Disease Ontology:DOID:3393); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:8435); (R-HSA-8964038)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10224102;10438503;10846185;11237011;11294643;11325614;11401500;11584272;12221107;12464675;15166224;15265030;16179341;16331323;16647063;17018531;1718995;17452316;18644789;18772377;18782767;19141679;19196236;19563754;19592704;20947831;221835;22764087;24868095;25699256;25915661;26474739;2722848;27862975;28218747;28514659;28604676;29184177;29557506;31092671;31154438;31844290;32478482;32938616;33866776;33980978;34171305;35051231;35580925;36694223;38213102;39894887;40596516;8049197;8112342;8146180;8407899;9705237;9756920", "class_list": "", "function": "ACAT2 may be a novel predictive biomarker and therapeutic target in lung adenocarcinoma., [RefSeq, PubMed]; Catalyzes the formation of fatty acid-cholesterol esters, which are less soluble in membranes than cholesterol (PubMed:11294643, PubMed:16647063). Plays a role in lipoprotein assembly and dietary cholesterol absorption (PubMed:11294643). Utilizes oleoyl-CoA ((9Z)-octadecenoyl-CoA) and linolenoyl-CoA ((9Z,12Z,15Z)-octadecatrienoyl-CoA) as substrates (PubMed:11294643). May provide cholesteryl esters for lipoprotein secretion from hepatocytes and intestinal mucosa (PubMed:11294643)., [UniProtKB, PubMed, PubMed]; Has lower enzymatic activity compared to isoform 1., [UniProtKB, PubMed]; Identification of the prognostic value of Th1/Th2 ratio and a novel prognostic signature in basal-like breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Sterol O-acyltransferase 2 chaperoned by apolipoprotein J facilitates hepatic lipid accumulation following viral and nutrient stresses. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of a small family of acyl coenzyme A:cholesterol acyltransferases. The gene encodes a membrane-bound enzyme localized in the endoplasmic reticulum that produces intracellular cholesterol esters from long-chain fatty acyl CoA and cholesterol. The cholesterol esters are then stored as cytoplasmic lipid droplets inside the cell. The enzyme is implicated in cholesterol absorption in the intestine and in the assembly and secretion of apolipoprotein B-containing lipoproteins such as very low density lipoprotein (VLDL). Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008]., [RefSeq]; Whole-exome sequencing and genome-wide association studies identify novel sarcopenia risk genes in Han Chinese., [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": 13, "reported_glycation": 0, "reported_snv": 3, "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": "F5H7W4;I6L9H9;Q4VB99;Q4VBA1;Q96TD4;Q9UNR2", "ec_number_list": "2.3.1.26", "go_molecular_function": "GO:0015485 cholesterol binding;GO:0000062 fatty-acyl-CoA binding;GO:0004772 sterol O-acyltransferase activity;GO:0034736 cholesterol O-acyltransferase activity;GO:0016746 acyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005903 brush border;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0010742 macrophage derived foam cell differentiation;GO:0008203 cholesterol metabolic process;GO:0030299 intestinal cholesterol absorption;GO:0033344 cholesterol efflux;GO:0034379 very-low-density lipoprotein particle assembly", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "O75908-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UJ37-1", "uniprot_id": "SIA7B_HUMAN", "mass": 41939.0, "length": 374, "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2", "gene_name": "ST6GALNAC2", "organism": "Human", "refseq_name": "alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2", "refseq_ac": "NP_006447", "gene_names_uniprotkb": "ST6GALNAC2; SIAT7B; SIATL1; STHM", "gene_names_refseq": "SAITL1; SIAT7B; SIAT7; SIATL1; ST6GALNAC2; ST6GalNAII; STHM", "protein_names_uniprotkb": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2; 2.4.3.3; GalNAc alpha-2,6-sialyltransferase II; SIAT7-B; ST6GalNAc II; ST6GalNAcII; SThM; Sialyltransferase 7B", "protein_names_refseq": "(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1, 3)-N-acetyl galactosaminide B; (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1, 3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase; SIAT7-B; ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2; ST6 GalNAc alpha-2,6-sialyltransferase 2; ST6GALNAC2, alpha-2,6-sialyltransferase 2; ST6GalNAc II; ST6GalNAcII; alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2; galNAc alpha-2,6-sialyltransferase II; sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1, 3)-N-acetyl galactosaminide B; sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1, 3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) B; sialyltransferase 7B; sialyltransferase-like 1", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:10610); (R-HSA-4085001); (R-HSA-9683673); (R-HSA-9694548); (R-HSA-9694719); (R-HSA-977068)", "pathway_count": 6, "publication_count": 88, "publication_id_list": "10.1101/2023.09.13.557529;10191093;10206952;10330343;10334995;10405317;10431835;10504389;10536037;10581036;10742600;10749855;10861246;10947946;11062056;11237011;11279095;11528398;11602804;11751519;11916006;12177386;12235148;12473780;12603328;12668675;12743242;14962670;15136692;15213228;15466199;15501818;15576474;16147865;16237198;16319059;16474139;17123352;17418236;17480010;1756715;18632803;19357720;19797320;21081508;22692205;22915798;23090970;2373995;24190977;26820593;27004849;28767179;28832583;29030743;29242379;29251719;30418433;30459171;3136930;32157095;32363391;32366695;32488085;32518941;32676595;32938616;32983136;33310888;34117209;34428449;34528721;34599882;34961524;35251023;7252518;7559389;7986008;8333853;8591035;8611500;8631981;8920913;8985184;9010752;9199191;9822625;9826427", "class_list": "glycogene;glycosyltransferase", "function": "Catalyzes the transfer of N-acetylneuraminyl groups onto glycan chains in glycoproteins (PubMed:10742600, PubMed:29251719). Conjugates sialic acid with an alpha-2-6 linkage to N-acetylgalactosamine (GalNAc) glycan chains linked to serine or threonine in glycoproteins. Sialylates alphaGalNAc- and Galbeta1->3GalNAc-O-Ser/Thr epitopes also known as Tn and T antigens., [UniProtKB, PubMed, PubMed, PubMed]; Expression of the ST6-GalNAcII gene and activity of the CMP-NeuAc:GalNAc-IgA1 alpha2,6-sialyltransferase were higher in immunoglobulinA1-producing cell lines., [RefSeq, PubMed]; MiR-182/-135b/ST6GALNAC2/PI3K/AKT axis could function as regulator of progression in colorectal cancer, [RefSeq, PubMed]; MicroRNAs miR-135b and miR-182 may reverse the resistance to 5-fluorouracil (5-FU) in colorectal cancer (CRC) cells by targeting ST6GALNAC2 via PI3K/AKT pathway, which render potential chemotherapy targets for the treatment of CRC., [RefSeq, PubMed]; Results provide evidence that ST6GalNAcII activated the invasion in follicular thyroid cancer cells through regulating the activity of PI3K/Akt pathway., [RefSeq, PubMed]; ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreducing ends of glycoconjugates. At the cell surface, these modifications have roles in cell-cell and cell-substrate interactions, bacterial adhesion, and protein targeting (Samyn-Petit et al., 2000 [PubMed 10742600]).[supplied by OMIM, Mar 2008]., [RefSeq]; Study provides evidence that mutations in B3GNT2, B4GALT2, and ST6GALNAC2 underlie aberrant glycosylation, and contribute to the pathogenesis of molecular subsets of colon and other gastrointestinal malignancies. Publication Status: Online-Only, [RefSeq, PubMed]; The ADG haplotype in the ST6GALNAC2 gene is a functional regulatory variant that may contribute to the genetic susceptibility in a subset of patients in whom the desialylation of IgA1 molecules was the main causative pathogenesis of IgAN GeneRIF: 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": 3, "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": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 466, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q12971", "ec_number_list": "2.4.3.1;2.4.3.2;2.4.3.4;2.4.3.6;2.4.3.7;2.4.99.-;2.4.3.3", "go_molecular_function": "GO:0008373 sialyltransferase activity;GO:0001665 alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:0019082 viral protein processing;GO:0006493 protein O-linked glycosylation;GO:0009101 glycoprotein biosynthetic process;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine;GO:1990743 protein sialylation", "synthesized_glycan_count": 550, "hit_score": 9.5, "record_id": "Q9UJ37-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15392-1", "uniprot_id": "BIRC5_HUMAN", "mass": 16389.0, "length": 142, "protein_name": "Baculoviral IAP repeat-containing protein 5", "gene_name": "BIRC5", "organism": "Human", "refseq_name": "baculoviral IAP repeat-containing protein 5 isoform 2", "refseq_ac": "NP_001012270", "gene_names_uniprotkb": "BIRC5; API4; IAP4", "gene_names_refseq": "API4; BIRC5; EPR-1", "protein_names_uniprotkb": "Baculoviral IAP repeat-containing protein 5; Apoptosis inhibitor 4; Apoptosis inhibitor survivin", "protein_names_refseq": "apoptosis inhibitor 4; apoptosis inhibitor survivin; baculoviral IAP repeat-containing protein 5 isoform 2; baculoviral IAP repeat-containing protein 5", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); ductal carcinoma in situ (Disease Ontology:DOID:0060074); endometrial hyperplasia (Disease Ontology:DOID:0080365); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); transitional cell carcinoma (Disease Ontology:DOID:2671); endometriosis (Disease Ontology:DOID:289); acute pancreatitis (Disease Ontology:DOID:2913); high grade glioma (Disease Ontology:DOID:3070); renal cell carcinoma (Disease Ontology:DOID:4450); stomach carcinoma (Disease Ontology:DOID:5517); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:332); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-4615885); (R-HSA-5663220); (R-HSA-6785807); (R-HSA-6803205); (R-HSA-68877); (R-HSA-8951664); (R-HSA-9648025)", "pathway_count": 12, "publication_count": 392, "publication_id_list": "10023775;10219247;10369418;10411507;10510379;10535940;10586089;10597293;10600384;10626797;10678165;10733530;10759568;10811609;10862613;10867011;10876248;10878807;10949039;10958683;10973499;11054413;11058569;11069302;11069780;11081627;11084045;11084331;11104795;11120780;11181178;11237011;11259415;11278437;11278729;11292861;11292862;11356008;11371342;11404481;11454738;11463377;11509732;11535616;11585840;11675392;11684014;11709553;11714700;11733065;11804586;11861764;11919562;11960372;11961546;12006501;12101228;12149243;12186903;12194817;12223527;12242343;12429848;12504025;12504026;12526791;12538644;12577064;12600988;12609982;12679384;12682069;12732141;12759363;12773388;12805219;12816948;12832072;12832402;12852857;1321151;14610074;14614825;14634100;14690597;14695157;14712222;14729977;14730319;14741722;14757770;15006353;15085137;15116091;15249581;15261459;15282312;15339662;15361859;15367669;15377670;15507212;15537541;15572695;15574592;15577913;15584925;15601839;15652483;15665297;15688063;15694336;15723797;15737063;15797384;15799966;15805299;15837622;15864301;15866170;15869882;15931174;15944396;15950906;15958553;15989970;16007214;16048438;16107692;16140933;16171779;16205632;16236134;16239925;16249378;16291752;16292343;16322459;16329164;16344111;16397018;16401342;16427043;16436504;16439214;16451196;16510571;16540365;16541025;16547496;16565220;16606674;16622419;16622420;16647857;16682347;16707496;16762323;16764853;16790436;16890222;16943183;16943200;17030981;17081101;17112726;17113138;17129783;17132228;17183367;17183683;17196341;17198702;17220875;17332328;1737036;17427945;17442733;17457057;17458857;17497243;17572495;17785452;17956729;17993464;18001770;18093314;18097444;18206966;18243101;18329369;18353781;18381449;18394993;18447642;18532927;18591255;18644974;18691976;18716626;18775313;18776931;18805092;18826954;18851830;18923426;18926707;18946085;19040420;19124156;19185846;19250909;19321346;19349281;19350017;19397496;19530738;19549844;19596686;19617556;19696148;19748355;19815554;19965387;20030946;20068231;20101212;20493732;20591975;20627126;20663916;20826784;20929775;21102457;21111234;21148482;21148584;21167178;21225229;21252155;21252625;21364656;21397845;21447816;21463634;21536684;21554500;21576392;21689689;21730069;21778237;21863050;21868368;21878504;21937440;21940857;21987589;21994466;22046235;22094460;22205702;22275430;22306028;22383755;22457066;22464730;22466964;22537386;22608513;22693070;22790947;22851691;22885700;22959436;23059823;23086340;23124025;23172665;23182941;23201271;23222643;23333871;23401859;23453757;23455323;23535662;23535663;23555662;23563313;23583660;23671130;23801653;23912815;23967200;23986495;24076655;24097101;24154794;24260043;24366543;24636985;24743777;24782567;24793695;24793696;24866247;24914801;25114211;25218447;25234944;25314029;25349211;25355947;25415440;25531226;25548167;25740311;25778398;25789526;25890221;26042612;26344709;26460955;26632597;26906416;27030794;27222660;27332895;27504122;27565346;27846572;27869121;27891225;28077791;28115426;28218735;28388966;29153394;29557506;29731959;30568303;30610225;30631324;31409757;31530632;31844290;31848261;32005965;32157095;32284348;33102521;33141586;33444648;34260926;34438346;34561969;35472243;36768214;38216925;38305029;38446998;38876304;38997438;7510216;7512451;7529288;7795521;7796300;7898939;7907877;7991565;8085155;8602263;8621622;8663118;8668165;8797861;8816495;9013879;9256286;9649308;9649503;9651359;9723655;9736340;9790970;9822675;9859993;9874564;9887101;9891082;9892021", "class_list": "", "function": "CCT6A promotes cell proliferation in colon cancer by targeting BIRC5 associated with p53 status., [RefSeq, PubMed]; CYR61 confers chemoresistance by upregulating survivin expression in triple-negative breast cancer., [RefSeq, PubMed]; Downregulation of PTPRT elevates the expression of survivin and promotes the proliferation, migration, and invasion of lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Multitasking protein that has dual roles in promoting cell proliferation and preventing apoptosis (PubMed:20627126, PubMed:21364656, PubMed:25778398, PubMed:28218735, PubMed:9859993). Component of a chromosome passage protein complex (CPC) which is essential for chromosome alignment and segregation during mitosis and cytokinesis (PubMed:16322459). Acts as an important regulator of the localization of this complex; directs CPC movement to different locations from the inner centromere during prometaphase to midbody during cytokinesis and participates in the organization of the center spindle by associating with polymerized microtubules (PubMed:20826784). Involved in the recruitment of CPC to centromeres during early mitosis via association with histone H3 phosphorylated at 'Thr-3' (H3pT3) during mitosis (PubMed:20929775). The complex with RAN plays a role in mitotic spindle formation by serving as a physical scaffold to help deliver the RAN effector molecule TPX2 to microtubules (PubMed:18591255). May counteract a default induction of apoptosis in G2/M phase (PubMed:9859993). The acetylated form represses STAT3 transactivation of target gene promoters (PubMed:20826784). May play a role in neoplasia (PubMed:10626797). Inhibitor of CASP3 and CASP7 (PubMed:21536684). Essential for the maintenance of mitochondrial integrity and function (PubMed:25778398). Isoform 2 and isoform 3 do not appear to play vital roles in mitosis (PubMed:12773388, PubMed:16291752). Isoform 3 shows a marked reduction in its anti-apoptotic effects when compared with the displayed wild-type isoform (PubMed:10626797)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Survivin/BIRC5 as a novel molecular effector at the crossroads of glucose metabolism and radioresistance in head and neck squamous cell carcinoma., [RefSeq, PubMed]; This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011]., [RefSeq]; USP36 inhibits apoptosis by deubiquitinating cIAP1 and survivin in colorectal 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 24, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 16, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2SUH6;B2R4R1;Q2I3N8;Q4VGX0;Q53F61;Q5MGC6;Q6FHL2;Q75SP2;Q9P2W8", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding;GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0006351 DNA-templated transcription;GO:0007059 chromosome segregation;GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 39.3, "record_id": "O15392-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P41143-1", "uniprot_id": "OPRD_HUMAN", "mass": 40369.0, "length": 372, "protein_name": "Delta-type opioid receptor", "gene_name": "OPRD1", "organism": "Human", "refseq_name": "delta-type opioid receptor", "refseq_ac": "NP_000902", "gene_names_uniprotkb": "OPRD1; OPRD", "gene_names_refseq": "DOP; DOR1; DOR; OPRD1; OPRD", "protein_names_uniprotkb": "Delta-type opioid receptor; D-OR-1; DOR-1", "protein_names_refseq": "D-OR-1; DOR-1; delta opioid receptor 1; delta-type opioid receptor", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); withdrawal disorder (Disease Ontology:DOID:0060001); opioid abuse (Disease Ontology:DOID:11206); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); opiate dependence (Disease Ontology:DOID:2559); myocardial infarction (Disease Ontology:DOID:5844); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:4985); (R-HSA-375276); (R-HSA-418594); (R-HSA-6785807)", "pathway_count": 4, "publication_count": 211, "publication_id_list": "10023775;10079109;10100623;10219247;10369418;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10510379;10586089;10604470;10854085;10867011;10899166;10982041;11007482;11040053;11058569;11084045;11085981;11104795;11120780;11278437;11278729;11322507;11356008;11385580;11404481;11457843;11463377;11562423;11683476;11773063;11960372;12120503;12142540;12223527;12242343;12427552;12540846;12600988;12719537;1280419;12832402;12847517;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;14634100;14712222;15086532;15116091;15139756;15261459;15539556;15584925;1567413;15805299;15869882;15947423;15950906;15951850;16007214;16048438;16107692;16205632;16236134;16397018;16451196;16510571;16540365;1655761;16606674;16634148;16923326;1710450;1710578;1719979;1722333;17427945;17458857;17572495;18127230;18243101;18353781;18434541;18447642;1847994;18577758;18644974;19124156;19185846;19295160;19397496;20493732;21102457;21252155;21689689;21730069;21937440;21994466;22046235;22184124;22205702;22383755;22417668;22693070;22851691;23086340;23124025;23172665;23446738;23455323;23555662;23690594;23967200;24097101;24743777;24906252;25234944;2534964;2649896;2748346;27496565;2834384;29769354;31092671;3202875;3366244;34638633;34685631;35051231;3525564;35908776;3856870;38922774;6274691;6281660;6373251;6589611;7057924;7510216;7512451;7524088;7529288;7590751;7592910;7592911;7624359;7795521;7796300;7797512;7808419;7898939;7905839;7907877;7937899;8015379;8035319;8062389;8063797;8085155;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8602263;8615752;8621622;8663118;8666380;8668165;8702752;873923;8797861;8816495;8823230;9013879;9171878;9521323;9530155;9593744;9607765;9651359;9685625;9722565;9723655;9736340;9792798;9822675;9832121;9851594;9874564", "class_list": "", "function": "Delta opioid receptor expression correlates to skin ageing and melanin expression in Asian women., [RefSeq, PubMed]; G protein-coupled receptor that functions as a receptor for endogenous enkephalins and for a subset of other opioids. 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. Signaling leads to the inhibition of adenylate cyclase activity. Inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. Plays a role in the perception of pain and in opiate-mediated analgesia. Plays a role in developing analgesic tolerance to morphine., [UniProtKB, PubMed, PubMed, PubMed]; Hypomethylation of the opioid receptor delta 1 gene combined with high opioid receptor delta 1 protein levels indicates increased risk of gout., [RefSeq, PubMed]; Opioid Addiction and Opioid Receptor Dimerization: Structural Modeling of the OPRD1 and OPRM1 Heterodimer and Its Signaling Pathways. Publication Status: Online-Only, [RefSeq, PubMed]; Oxytocin Is a Positive Allosteric Modulator of kappa-Opioid Receptors but Not delta-Opioid Receptors in the G Protein Signaling Pathway. 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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B5B0B8", "ec_number_list": "", "go_molecular_function": "GO:0038046 G protein-coupled enkephalin receptor activity;GO:0004985 G protein-coupled opioid receptor activity;GO:0033612 receptor serine/threonine kinase binding;GO:0042923 neuropeptide binding", "go_cellular_component": "GO:0098992 neuronal dense core vesicle;GO:0005886 plasma membrane;GO:0043679 axon terminus;GO:0043005 neuron projection;GO:0030672 synaptic vesicle membrane", "go_biological_process": "GO:0006955 immune response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0010629 negative regulation of gene expression;GO:0035094 response to nicotine", "synthesized_glycan_count": 0, "hit_score": 21.2, "record_id": "P41143-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P40425-1", "uniprot_id": "PBX2_HUMAN", "mass": 45881.0, "length": 430, "protein_name": "Pre-B-cell leukemia transcription factor 2", "gene_name": "PBX2", "organism": "Human", "refseq_name": "pre-B-cell leukemia transcription factor 2", "refseq_ac": "NP_002577", "gene_names_uniprotkb": "PBX2; G17", "gene_names_refseq": "G17; HOX12; PBX2MHC; PBX2", "protein_names_uniprotkb": "Pre-B-cell leukemia transcription factor 2; Homeobox protein PBX2; Protein G17", "protein_names_refseq": "XXbac-BPG300A18.13; homeobox 12; homeobox protein PBX2; pre-B-cell leukemia homeobox 2; pre-B-cell leukemia transcription factor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:5089)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "10825160;12609849;14656967;1682799;17525332;18220336;18669648;19651622;20068231;21406692;23186163;24275569;25418920;25892735;26154972;26992070;28228285;28514659;28649982;28855257;29242379;29393594;29493099;29557506;29769354;29786170;30059200;30410026;31217245;31492838;31844290;32157095;32357974;32574038;32897882;32938616;32983136;33535170;33592498;33691108;33717175;33936100;33968037;34019948;34561969;34932366;35051231;35289036;35513511;35561310;35580925;36241641;37541260;40596516;7759099;7835890;7910944", "class_list": "", "function": "Coexpression of HOXA6 and PBX2 promotes metastasis in gastric cancer., [RefSeq, PubMed]; This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional activator that binds the sequence 5'-ATCAATCAA-3'. Activates transcription of PF4 in complex with MEIS1., [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": 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": 7, "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": 5, "binding_glycan_count": 0, "secondary_ac_list": "A2BFJ2", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA 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: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": 6.3, "record_id": "P40425-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P18031-1", "uniprot_id": "PTN1_HUMAN", "mass": 49967.0, "length": 435, "protein_name": "Tyrosine-protein phosphatase non-receptor type 1", "gene_name": "PTPN1", "organism": "Human", "refseq_name": "tyrosine-protein phosphatase non-receptor type 1 isoform 2", "refseq_ac": "NP_001265547", "gene_names_uniprotkb": "PTPN1; PTP1B", "gene_names_refseq": "PTP1B; PTPN1", "protein_names_uniprotkb": "Tyrosine-protein phosphatase non-receptor type 1; 3.1.3.48; PTP-1B; Protein-tyrosine phosphatase 1B", "protein_names_refseq": "protein tyrosine phosphatase, placental; protein-tyrosine phosphatase 1B; tyrosine-protein phosphatase non-receptor type 1 isoform 2", "tax_id": 9606, "disease": "intestinal cancer (Disease Ontology:DOID:10155); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); hyperinsulinism (Disease Ontology:DOID:2018); coronary artery disease (Disease Ontology:DOID:3393); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:5770); (R-HSA-354192); (R-HSA-6807004); (R-HSA-77387); (R-HSA-877312); (R-HSA-8849472); (R-HSA-9022699); (R-HSA-912694); (R-HSA-982772); (R-HSA-9860927)", "pathway_count": 10, "publication_count": 184, "publication_id_list": "10022928;10064597;10421843;10446041;10480872;10805787;10896934;10964917;11106648;11476890;11506178;11579209;11694501;11741535;11779865;11894096;11940607;12244174;12475979;12551915;12686592;12802338;12802339;12855578;12907755;14754902;15123609;15157149;15334074;15469846;1549776;15592455;15828871;15919835;16005629;16040750;16076873;16113677;16115959;16227611;16271887;16574064;16710296;16757337;16919435;17051221;17081983;17178829;17218263;1722201;1739967;17624957;18031232;18280240;18406720;18434644;18488018;18508557;18691976;18819921;18991276;19109251;19321446;1948064;19651622;19927328;20068231;20615878;21135139;21406692;2157211;2164224;21707536;22087256;22169477;23186163;23208509;23348582;23481700;23814047;24150225;24828152;25398386;25418920;25424712;2546149;25502872;25505266;25576301;25880248;25897081;26214522;26402673;26811146;26992070;27600516;27846572;27862975;27893789;27920218;28063628;28228285;2825030;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29596046;29632046;29632711;29786170;2986535;30315122;3061785;30779550;31154438;31408443;31844290;31848261;31998317;32037480;32098194;32157095;32265295;32357974;32502341;32673515;32938616;32983136;33214551;33298915;3349036;33592498;33691108;33717175;33912179;33968037;34019948;34171305;34561969;34932366;35083852;35580925;36010968;36215666;36284347;37730132;38133579;38199575;38665916;38724486;40914422;7513017;7691587;7929063;7935344;8128219;8188682;8300632;8343952;8491187;8631894;8682206;8755247;8943354;8995282;8999839;9006942;9030599;9058373;9351824;9355745;9391040;9553104;9600099;9609117;9793760;9922143", "class_list": "", "function": "High-resolution double vision of the allosteric phosphatase PTP1B., [RefSeq, PubMed]; PTP1B mediates the inhibitory effect of MFGE8 on insulin signaling through the beta5 integrin., [RefSeq, PubMed]; Protein tyrosine phosphatase 1B (PTP1B) function, structure, and inhibition strategies to develop antidiabetic drugs. Review article, [RefSeq, PubMed]; Protein tyrosine phosphatase 1B is a regulator of alpha-actinin4 in the glomerular podocyte., [RefSeq, PubMed]; The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]., [RefSeq]; Tyrosine-protein phosphatase which acts as a regulator of endoplasmic reticulum unfolded protein response. Mediates dephosphorylation of EIF2AK3/PERK; inactivating the protein kinase activity of EIF2AK3/PERK. May play an important role in CKII- and p60c-src-induced signal transduction cascades. May regulate the EFNA5-EPHA3 signaling pathway which modulates cell reorganization and cell-cell repulsion. May also regulate the hepatocyte growth factor receptor signaling pathway through dephosphorylation of MET., [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": 3, "mined_n_glycosites": 0, "mined_o_glycosites": 3, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 36, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 18, "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": "Q5TGD8;Q9BQV9;Q9NQQ4", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.21;3.1.3.18;3.1.3.-;2.7.10.2;2.7.10.1;3.1.3.5;3.1.3.2;3.1.3.67;3.6.5.2;3.1.3.27", "go_molecular_function": "GO:0003723 RNA binding;GO:0005158 insulin receptor binding;GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005737 cytoplasm;GO:0005759 mitochondrial matrix;GO:0005769 early endosome", "go_biological_process": "GO:0046627 negative regulation of insulin receptor signaling pathway;GO:1904385 cellular response to angiotensin;GO:0035335 peptidyl-tyrosine dephosphorylation;GO:2000646 positive regulation of receptor catabolic process;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 19.0, "record_id": "P18031-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43175-1", "uniprot_id": "SERA_HUMAN", "mass": 56651.0, "length": 533, "protein_name": "D-3-phosphoglycerate dehydrogenase", "gene_name": "PHGDH", "organism": "Human", "refseq_name": "D-3-phosphoglycerate dehydrogenase", "refseq_ac": "NP_006614", "gene_names_uniprotkb": "PHGDH; PGDH3", "gene_names_refseq": "3-PGDH; 3PGDH; HEL-S-113; NLS1; NLS; PDG; PGAD; PGDH; PGD; PHGDHD; PHGDH; SERA", "protein_names_uniprotkb": "D-3-phosphoglycerate dehydrogenase; 1.1.1.37; 1.1.1.399; 1.1.1.95; 2-oxoglutarate reductase; 3-PGDH; Malate dehydrogenase", "protein_names_refseq": "2-oxoglutarate reductase; 3-phosphoglycerate dehydrogenase; D-3-phosphoglycerate dehydrogenase; epididymis secretory protein Li 113; malate dehydrogenase", "tax_id": 9606, "disease": "PHGDH deficiency (Disease Ontology:DOID:0050722); Neu-Laxova syndrome 1 (Disease Ontology:DOID:0080076); amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:26227); (R-HSA-977347)", "pathway_count": 2, "publication_count": 99, "publication_id_list": "10713460;11054547;11055895;11237011;11751922;12393813;12633500;14654843;15193426;15536068;16120614;16408927;16580895;16949628;18342636;18378410;18452278;18669648;19235232;20068231;20106978;20166139;23186163;23301498;24275569;24366607;24715725;24836451;25114211;25406093;25645385;26154972;26416733;26703715;27600516;27846572;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29314611;29317506;29393594;29557506;30315122;30379171;30397120;30484775;30524438;30833945;31020640;31154438;31217245;31222486;31844290;32119511;32157095;32161166;32350084;32387766;32983136;33214551;33298915;33465208;33592498;33633747;33717175;33968037;34019948;34087483;34171305;34509645;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35580925;36010968;36241641;36284347;37217939;37650587;37938771;37991454;38253038;38383964;38654205;38665916;39012001;40596516;41350704;9188776", "class_list": "", "function": "Biochemical and cellular studies of three human 3-phosphoglycerate dehydrogenase variants responsible for pathological reduced L-serine levels., [RefSeq, PubMed]; Catalyzes the reversible oxidation of 3-phospho-D-glycerate to 3-phosphonooxypyruvate, the first step of the phosphorylated L-serine biosynthesis pathway. Also catalyzes the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and the reversible oxidation of (S)-malate to oxaloacetate., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; CircPHGDH downregulation decreases papillary thyroid cancer progression through miR-122-5p/PKM2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; On the quaternary structure of human D-3-phosphoglycerate dehydrogenase., [RefSeq, PubMed]; PRMT1 Sustains De Novo Fatty Acid Synthesis by Methylating PHGDH to Drive Chemoresistance in Triple-Negative Breast Cancer., [RefSeq, PubMed]; Serine synthesis pathway enzyme PHGDH is critical for muscle cell biomass, anabolic metabolism, and mTORC1 signaling., [RefSeq, PubMed]; This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 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": 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "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": "B2RD08;Q5SZU3;Q9BQ01", "ec_number_list": "1.1.1.399;1.1.1.95;1.1.1.37", "go_molecular_function": "GO:0009055 electron transfer activity;GO:0051287 NAD binding;GO:0004617 phosphoglycerate dehydrogenase activity;GO:0030060 L-malate dehydrogenase (NAD+) activity;GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007420 brain development;GO:0006564 L-serine biosynthetic process;GO:0008652 amino acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "O43175-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P04278-1", "uniprot_id": "SHBG_HUMAN", "mass": 43779.0, "length": 402, "protein_name": "Sex hormone-binding globulin", "gene_name": "SHBG", "organism": "Human", "refseq_name": "sex hormone-binding globulin isoform 1 precursor", "refseq_ac": "NP_001031", "gene_names_uniprotkb": "SHBG", "gene_names_refseq": "ABP; SBP; SHBG; TEBG", "protein_names_uniprotkb": "Sex hormone-binding globulin; ABP; SBP; SHBG; Sex steroid-binding protein; TeBG; Testis-specific androgen-binding protein; Testosterone-estradiol-binding globulin; Testosterone-estrogen-binding globulin", "protein_names_refseq": "sex hormone-binding globulin isoform 1 precursor; sex steroid-binding protein; testis-specific androgen-binding protein; testosterone-binding beta-globulin; testosterone-estradiol-binding globulin; testosterone-estrogen-binding globulin", "tax_id": 9606, "disease": "endometrial cancer (Disease Ontology:DOID:1380); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:6462)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10391209;10675319;11237011;12065592;1400872;15028279;16335952;16982738;17220347;17322306;19159218;23001782;23090970;2587256;2608061;26992070;27397612;29557506;2956125;2956126;29671580;29741879;30459171;34725484;35051231;3542030;3569533;36215666;3702459;37074911;38320264;38394359;38396861;38796576;38848344;6684483;7714097", "class_list": "", "function": "Association of Testosterone and Sex Hormone-Binding Globulin With All-Cause and Cardiovascular Disease Mortality in Older Chinese Men., [RefSeq, PubMed]; Blood lipid levels mediating the effects of sex hormone-binding globulin on coronary heart disease: Mendelian randomization and mediation analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Examining the causal relationship between sex hormone-binding globulin (SHBG) and infertility: A Mendelian randomization study. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as an androgen transport protein, but may also be involved in receptor mediated processes. Each dimer binds one molecule of steroid. Specific for 5-alpha-dihydrotestosterone, testosterone, and 17-beta-estradiol. Regulates the plasma metabolic clearance rate of steroid hormones by controlling their plasma concentration., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Longitudinal Changes in Sex Hormone Binding Globulin (SHBG) and Risk of Incident Diabetes: The Study of Women's Health Across the Nation (SWAN)., [RefSeq, PubMed]; Sex-Hormone-Binding Globulin Gene Polymorphisms and Breast Cancer Risk in Caucasian Women of Russia. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a steroid binding protein that was first described as a plasma protein secreted by the liver but is now thought to participate in the regulation of steroid responses. The encoded protein transports androgens and estrogens in the blood, binding each steroid molecule as a dimer formed from identical or nearly identical monomers. Polymorphisms in this gene have been associated with polycystic ovary syndrome and type 2 diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 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": 2, "reported_o_glycosites": 1, "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": 5, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 23, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B0FWH4;B4DYU0;E9PGW1;F5H5Z8;I3L1N7;P14689;Q16616;Q3MIL0;Q6ISD2", "ec_number_list": "", "go_molecular_function": "GO:0005497 androgen binding;GO:0005496 steroid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "P04278-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75530-1", "uniprot_id": "EED_HUMAN", "mass": 50198.0, "length": 441, "protein_name": "Polycomb protein EED", "gene_name": "EED", "organism": "Human", "refseq_name": "polycomb protein EED isoform c", "refseq_ac": "NP_001294936", "gene_names_uniprotkb": "EED", "gene_names_refseq": "COGIS; EED; HEED; WAIT1", "protein_names_uniprotkb": "Polycomb protein EED; Embryonic ectoderm development protein; WAIT-1; WD protein associating with integrin cytoplasmic tails 1; hEED", "protein_names_refseq": "WD protein associating with integrin cytoplasmic tails 1; embryonic ectoderm development protein; polycomb protein EED isoform c; polycomb protein EED", "tax_id": 9606, "disease": "intestinal cancer (Disease Ontology:DOID:10155); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); neurodegenerative disease (Disease Ontology:DOID:1289); brain cancer (Disease Ontology:DOID:1319); alcohol use disorder (Disease Ontology:DOID:1574); cancer (Disease Ontology:DOID:162); transient cerebral ischemia (Disease Ontology:DOID:224); Hajdu-Cheney syndrome (Disease Ontology:DOID:2736); adenocarcinoma (Disease Ontology:DOID:299); central nervous system cancer (Disease Ontology:DOID:3620); Alagille syndrome (Disease Ontology:DOID:9245); colorectal cancer (Disease Ontology:DOID:9256); multiple myeloma (Disease Ontology:DOID:9538); obesity (Disease Ontology:DOID:9970); Cohen-Gibson syndrome (MONDO:MONDO:0060510)", "pathway": " (hsa:8726); (R-HSA-212300); (R-HSA-2559580); (R-HSA-3214841); (R-HSA-5617472); (R-HSA-8943724); (R-HSA-8953750); (R-HSA-9609690); (R-HSA-9710421); (R-HSA-9764725); (R-HSA-9909649)", "pathway_count": 11, "publication_count": 316, "publication_id_list": "10.1101/2023.09.13.557529;10347217;10581039;10655587;10722742;10772813;10777502;10871633;10949293;11158321;11171983;11237011;11378386;11545734;11564866;11781575;11912130;11959841;11959846;12004135;12101246;12123582;12130538;12134156;12189133;12193592;12351676;12421820;12435631;12453418;12540855;12649488;12670868;12700765;12808055;12857923;12909625;13130464;14507994;14532106;14536086;14690610;14992727;15014447;15099518;15145825;15225548;15231737;15235609;15287722;15385962;15536069;15542832;15563468;15684044;15866172;15867264;15964846;16079151;16118227;16140760;16186825;16199523;16292313;16337592;16357870;16418168;16431907;16436515;16519522;16549775;16676006;16682010;16702404;16805913;16826196;17001316;17021013;17130829;17185360;17200670;17210787;17254968;17255097;17332741;17344414;17395714;17428788;17500065;17544230;1756725;17600109;17660710;17707229;17713478;17761849;17765224;17825402;17851529;17873065;17875933;17974977;18086877;18172008;18172012;18203656;18223688;18285464;18346456;18365017;18391013;18452278;18487508;18535146;18562691;18669648;18781158;18793328;18974356;19026781;19088198;19115252;19232136;19440552;19451217;19451218;19462008;19528227;19571010;19682613;19747919;1975088;19782034;19808676;19854132;19884659;20068231;20075857;20085832;20123894;20233713;20418909;20516213;20871592;20937877;20974918;21131967;21170310;21196496;21289308;21596310;21690215;21779408;21832073;21986495;22009739;22020331;22099308;22128185;22158034;22174689;22323599;22325352;22336108;22466170;22569366;22645359;22683641;22705304;22879880;22939622;23186163;23219899;23287862;23326524;23431328;23466526;23534758;23630040;23679895;23954429;24074865;24174538;24312487;24586203;24627085;24715725;24718924;25101834;25135475;25418920;25576301;25645385;2570724;25728608;25728771;25787343;25892735;25913784;26154972;26212009;26572645;26758079;26910647;26992070;27193220;27397612;27501258;27846572;27862975;27868325;27920218;28218747;28228285;28229514;28404884;28415052;28475857;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29729076;29769354;29786170;30315122;30360396;30385408;30410026;30429286;30761409;30898548;30923826;30993897;31086175;31217245;31844290;32157095;32183950;32188940;32357974;32387766;32488085;32502341;32860047;32897882;32983136;33141586;33298915;33392160;33608512;33633747;33717175;33936100;34171305;34211107;35008676;35051231;35138000;35292107;35580925;35636260;35851744;36284347;37840385;37938771;40914422;7488013;7501971;7535770;7588633;7623816;7816143;7831296;7859739;7906964;7908827;8001816;8078588;8259215;8319905;8622669;8622688;8626550;8674428;8741839;8759021;8774846;8846784;8974401;9030721;9162092;9195981;9218805;9272954;9482740;9501179;9529249;9564042;9584199;9628874;9689056;9704927;9765275;9768359;9806832;9824166;9880543", "class_list": "", "function": "EED related overgrowth: First report of multiple members in a single family., [RefSeq, PubMed]; Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' and 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Also recognizes 'Lys-26' trimethylated histone H1 with the effect of inhibiting PRC2 complex methyltransferase activity on nucleosomal histone H3 'Lys-27', whereas H3 'Lys-27' recognition has the opposite effect, enabling the propagation of this repressive mark. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1 and CDKN2A., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The PRC2 molecule EED is a target of epigenetic therapy for neuroblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein interacts with enhancer of zeste 2, the cytoplasmic tail of integrin beta7, immunodeficiency virus type 1 (HIV-1) MA protein, and histone deacetylase proteins. This protein mediates repression of gene activity through histone deacetylation, and may act as a specific regulator of integrin function. Two transcript variants encoding distinct isoforms have been identified 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": 8, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 16, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K7V5;O00149;Q6NTH2;Q7LDA5;Q7LDG8;Q86VV2;Q9UNY7", "ec_number_list": "", "go_molecular_function": "GO:0008047 enzyme activator activity;GO:0042802 identical protein binding;GO:1990841 promoter-specific chromatin binding;GO:0001222 transcription corepressor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035098 ESC/E(Z) complex;GO:0005677 chromatin silencing complex;GO:0045120 pronucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0021510 spinal cord development;GO:0045892 negative regulation of DNA-templated transcription;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 32.1, "record_id": "O75530-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UXD5-1", "uniprot_id": "SE6L2_HUMAN", "mass": 97560.0, "length": 910, "protein_name": "Seizure 6-like protein 2", "gene_name": "SEZ6L2", "organism": "Human", "refseq_name": "seizure 6-like protein 2 isoform 3 precursor", "refseq_ac": "NP_001107571", "gene_names_uniprotkb": "SEZ6L2; PRO4349; PSK", "gene_names_refseq": "BSRPA; PSK-1; SEZ6L2", "protein_names_uniprotkb": "Seizure 6-like protein 2", "protein_names_refseq": "seizure 6-like protein 2 isoform 3 precursor; seizure related 6-like protein 2; type I transmembrane receptor (seizure-related protein)", "tax_id": 9606, "disease": "", "pathway": " (hsa:26470)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;12975309;16863507;19242545;19260139;19838169;21394203;23090970;23584533;24190977;25813380;26811146;26992070;28218747;28832583;29391424;29557506;29786170;30315122;30410026;30459171;30779550;31154438;31844290;31848261;32105413;32148567;32157095;32161166;32387766;32502341;32938616;33141586;33392160;33592498;33912179;33936031;33968037;33981976;34087483;34171305;34357683;34509645;34561969;35051231;35523305;35580925;36010968;36241641;36284347;37074911", "class_list": "", "function": "May contribute to specialized endoplasmic reticulum functions in neurons., [UniProtKB, UniProtKB, UniProtKB]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SEZ6L2 knockdown impairs tumour growth by promoting caspase-dependent apoptosis in colorectal cancer., [RefSeq, PubMed]; SEZ6L2, regulated by USF1, accelerates the growth and metastasis of breast cancer., [RefSeq, PubMed]; Significant association between autism and a coding variant in the seizure-related gene SEZ6L2 gene; SEZ6L2 expression in human fetal brain was highest in post-mitotic cortical layers, hippocampus, amygdala, and thalamus GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The Sez6 Family Inhibits Complement by Facilitating Factor I Cleavage of C3b and Accelerating the Decay of C3 Convertases. Publication Status: Online-Only, [RefSeq, PubMed]; These results provide an extensive ascertainment of the genetic variability of SEZ6L2 in human populations and do not support a major role for SEZ6L2 sequence variations in the susceptibility to autism spectrum disorders. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]., [RefSeq]; Upregulated Seizure-Related 6 Homolog-Like 2 Is a Prognostic Predictor of Hepatocellular Carcinoma. Publication Status: Online-Only, [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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 18, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 18, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 18, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 61, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 22, "disease_count": 0, "glyco_site_count": 28, "binding_glycan_count": 0, "secondary_ac_list": "B7Z1N0;F5H293;H7BXQ6;Q9BW82;Q9UJ45;Q9UJ46;Q9UJ47", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0043025 neuronal cell body;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0008344 adult locomotory behavior;GO:0021680 cerebellar Purkinje cell layer development;GO:0060074 synapse maturation", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q6UXD5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P16615-1", "uniprot_id": "AT2A2_HUMAN", "mass": 114757.0, "length": 1042, "protein_name": "Sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "gene_name": "ATP2A2", "organism": "Human", "refseq_name": "sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform a", "refseq_ac": "NP_001672", "gene_names_uniprotkb": "ATP2A2; ATP2B", "gene_names_refseq": "ATP2A2; ATP2B; DAR; DD; RHABDO2; SERCA2", "protein_names_uniprotkb": "Sarcoplasmic/endoplasmic reticulum calcium ATPase 2; 7.2.2.10; Calcium pump 2; Calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform; Endoplasmic reticulum class 1/2 Ca(2+) ATPase; SERCA2; SR Ca(2+)-ATPase 2", "protein_names_refseq": "ATPase Ca++ transporting cardiac muscle slow twitch 2; ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2; SR Ca(2+)-ATPase 2; calcium pump 2; cardiac Ca2+ ATPase; endoplasmic reticulum class 1/2 Ca(2+) ATPase; sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform a; sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "tax_id": 9606, "disease": "acrokeratosis verruciformis (Disease Ontology:DOID:0050606); Brody myopathy (Disease Ontology:DOID:0050692); essential hypertension (Disease Ontology:DOID:10825); heart disease (Disease Ontology:DOID:114); abdominal obesity-metabolic syndrome 1 (Disease Ontology:DOID:14221); hypothyroidism (Disease Ontology:DOID:1459); keratosis follicularis (Disease Ontology:DOID:2734); euthyroid sick syndrome (Disease Ontology:DOID:2856); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); type 2 diabetes mellitus (Disease Ontology:DOID:9352); rhabdomyolysis, susceptibility to, 2 (MONDO:MONDO:0980721)", "pathway": " (hsa:488); (R-HSA-1912420); (R-HSA-418359); (R-HSA-5578775); (R-HSA-936837)", "pathway_count": 5, "publication_count": 222, "publication_id_list": "10075724;10080178;10220561;10366590;10401004;10441323;10441324;10441325;10459009;10484781;10545110;10615129;10669757;10767338;10913253;10935626;10935637;11062458;11135303;11237011;11530204;11707585;11904675;12049766;12119109;12406570;12542527;12659872;12804600;12805933;12832055;12953268;1295745;12975374;1374913;14749390;15174025;15260953;15302935;15598648;15754088;15831496;15919184;15925480;16182249;16399855;16402920;1656976;16700898;16754674;1693919;17081983;17224452;17357072;17486119;1764995;18452278;18578522;18669648;18691976;18723824;18971376;18995841;19278978;19345671;19415658;19651622;19664994;19690332;19701457;19751721;19878721;19995371;20058876;20068231;20166139;20170518;20197277;20298697;20388710;21097675;21108950;2160952;22084111;22186024;22210847;2226863;22427649;22707725;22972900;23186163;23196729;23356892;23362265;23481700;23549614;23610579;24275569;2430951;24392018;24715725;2477373;25418920;25576301;2559024;25645385;25994790;25996873;26154972;26375851;26421717;26853435;26992070;27067231;27452731;27502484;27600516;27846572;27920218;28035777;28218747;2838329;2844759;2844796;28510447;28645727;28649982;28832583;28834231;28890335;28904123;29242379;29393594;29437277;29493099;29508533;2953725;29557506;29774024;29786170;30315122;30397120;30410026;30779550;30833945;31154438;31530632;31735293;31844290;31848261;32119511;32157095;32161166;32350084;32357974;32375037;32488085;32502341;32897882;32938616;32983136;33043033;33141586;33214551;33298915;33581112;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34725712;35051231;35083852;35154160;35251023;35318648;35561310;35580925;36010968;36241641;36284347;36523160;37738362;37938771;38339835;38536168;38665916;39302247;39970126;40930100;5961668;6328127;6832622;7626145;7702581;7918097;7929371;8021246;8045293;8293978;8298639;8490646;8490659;8681805;8798450;8918259;9147644;9187150;9202841;9207795;9244302;9307043;9346285;9653148;9727485", "class_list": "", "function": "A new splice variant is identified that is regulated during monocytic differentiation., [RefSeq, PubMed]; IL-37 Modulates Myocardial Calcium Handling via the p-STAT3/SERCA2a Axis in HF-Related Engineered Human Heart Tissue., [RefSeq, PubMed]; Involved in the regulation of the contraction/relaxation cycle. Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathways via its interaction with TMEM64 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., [UniProtKB, UniProtKB]; Kinetic analysis of SERCA1 and SERCA2 isoforms and the effects of mutation, [RefSeq, PubMed]; Mitochondria-ER contact mediated by MFN2-SERCA2 interaction supports CD8[+] T cell metabolic fitness and function in tumors., [RefSeq, PubMed]; Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene., [RefSeq, PubMed]; Structure and transcriptional regulation of the SERCA2 gene. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Other types of mutations in this gene have been associated with various forms of muscular dystrophies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019]., [RefSeq]; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen (PubMed:12542527, PubMed:16402920). Involved in autophagy in response to starvation. Upon interaction with VMP1 and activation, controls ER-isolation membrane contacts for autophagosome formation (PubMed:28890335). Also modulates ER contacts with lipid droplets, mitochondria and endosomes (PubMed:28890335). In coordination with FLVCR2 mediates heme-stimulated switching from mitochondrial ATP synthesis to thermogenesis (By similarity)., [UniProtKB, PubMed, 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": 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": 1, "reported_glycation": 0, "reported_snv": 16, "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": "A6NDN7;B4DF05;P16614;Q86VJ2", "ec_number_list": "7.2.2.10;3.6.5.2;2.7.11.17", "go_molecular_function": "GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0005246 calcium channel regulator activity;GO:0016887 ATP hydrolysis activity;GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0016529 sarcoplasmic reticulum", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0007155 cell adhesion;GO:0006874 intracellular calcium ion homeostasis;GO:0008544 epidermis development;GO:0034220 monoatomic ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 22.5, "record_id": "P16615-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q496A3-1", "uniprot_id": "SPAS1_HUMAN", "mass": 33705.0, "length": 300, "protein_name": "Spermatogenesis-associated serine-rich protein 1", "gene_name": "SPATS1", "organism": "Human", "refseq_name": "spermatogenesis-associated serine-rich protein 1", "refseq_ac": "NP_659463", "gene_names_uniprotkb": "SPATS1", "gene_names_refseq": "DDIP; SPATA8; SPATS1; SRSP1", "protein_names_uniprotkb": "Spermatogenesis-associated serine-rich protein 1", "protein_names_refseq": "spermatogenesis-associated serine-rich protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:221409)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;20603214;28467828;30379171;31222486;32157095;32488085;35051231", "class_list": "", "function": "Dishevelled-DEP domain interacting protein is a negative regulator of the canonical Wnt 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": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q496A2;Q496A5;Q96LJ0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q496A3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P15907-1", "uniprot_id": "SIAT1_HUMAN", "mass": 46605.0, "length": 406, "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 1", "gene_name": "ST6GAL1", "organism": "Human", "refseq_name": "beta-galactoside alpha-2,6-sialyltransferase 1 isoform a", "refseq_ac": "NP_003023", "gene_names_uniprotkb": "ST6GAL1; SIAT1", "gene_names_refseq": "CDw75; SIAT1; ST6GAL1; ST6GalI; ST6N", "protein_names_uniprotkb": "Beta-galactoside alpha-2,6-sialyltransferase 1; 2.4.3.1; Alpha 2,6-ST 1; CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,6-sialyltransferase 1; ST6Gal I; ST6GalI; Sialyltransferase 1", "protein_names_refseq": "B-cell antigen CD75; CMP-N-acetylneuraminate beta-galactosamide alpha-2,6-sialyltransferase; CMP-N-acetylneuraminate-beta-galactosamide-alpha-2, 6-sialyltransferase 1; ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1; ST6 beta-galactosamide alpha-2,6-sialyltranferase 1; alpha 2,6-ST 1; beta-galactoside alpha-2,6-sialyltransferase 1 isoform a; beta-galactoside alpha-2,6-sialyltransferase 1; sialyltransferase 1 (beta-galactoside alpha-2,6-sialyltransferase)", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); high grade glioma (Disease Ontology:DOID:3070)", "pathway": " (hsa:6480); (R-HSA-4085001); (R-HSA-9683673); (R-HSA-9694548); (R-HSA-9694719); (R-HSA-975577); (R-HSA-977068)", "pathway_count": 7, "publication_count": 169, "publication_id_list": "10.1038/emboj.2013.79;10191093;10206952;10330343;10334995;10395745;10405317;10431835;10504389;10536037;10570912;10581036;10700233;10742600;10749855;10766765;10861246;10947946;11062056;11237011;11279095;11421344;11425186;11528398;11530204;11588157;11602804;11751519;11901181;11916006;12097641;12177386;12235148;12473780;12603328;12668675;12692561;12743242;12765789;14962670;15136692;15213228;15466199;1547499;15501818;15576474;15939404;16147865;16237198;16319059;16434023;16474139;16924681;17006639;17021253;17123352;1714903;1730763;17488527;1756715;18292551;18507432;18632803;18931531;19159218;19403558;19690332;19797320;20117844;20378551;21081508;22299025;22692205;22915798;23328677;23584533;23719902;2373995;23783831;23999306;2408023;25502872;25645385;25733881;26375851;26972907;27726376;27846572;27872474;27920218;2803295;28218747;28228285;28467828;28514659;28832583;28834231;28871256;28904123;29133956;29242379;29314611;29437277;29557506;29632711;29789417;30315122;30573663;31154438;31217245;3136930;31611695;31844290;31848261;32157095;32350084;32357974;32363391;32366695;32518941;32676595;32938616;32983136;33091337;33298915;33310888;33592498;33717175;33912179;33936100;33968037;34117209;34185709;34357683;34428449;34528721;34599882;34932366;34961524;35051231;35154160;35251023;35561310;35580925;35789385;36280670;37632720;37643018;37660914;38003522;38490094;39120072;7252518;7559389;7986008;8315383;8333853;8591035;8606061;8611500;8631981;8920913;8985184;9010752;9054414;9199191;9597550;9822625;9826427", "class_list": "glycogene;glycosyltransferase", "function": "Evaluation of ST6Gal1 expression and clinicopathological significance in human glioma., [RefSeq, PubMed]; N-linked alpha2,6-sialylation of integrin beta1 by the sialyltransferase ST6Gal1 promotes cell proliferation and stemness in gestational trophoblastic disease., [RefSeq, PubMed]; Role of ST6GAL1 in Thyroid Cancers: Insights from Tissue Analysis and Genomic Datasets. Publication Status: Online-Only, [RefSeq, PubMed]; ST6GAL1 sialyltransferase promotes acinar to ductal metaplasia and pancreatic cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; Sialylation of EGFR by ST6GAL1 induces receptor activation and modulates trafficking dynamics., [RefSeq, PubMed]; This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]., [RefSeq]; Transfers sialic acid from CMP-sialic acid to galactose-containing acceptor substrates. In B lymphocytes, generates neuraminidase-sensitive lymphocyte cell-surface differentiation antigens, such as CDw75, HB-6 and CD76 (PubMed:1730763). Sialylates complex-type N-glycans attached on the fragment crystallizable (Fc) of IgGs confering anti-inflammatory effector functions. Preferentially monosialylates the alpha(1->3) mannose antenna of Fc glycoforms with subsequent disialylation occurring at a much slower rate., [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": 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": 1, "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": 3, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 444, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8KA14;B2R513;D3DNV3", "ec_number_list": "2.4.3.1;2.4.3.2;2.4.3.4;2.4.3.6;2.4.3.7;2.4.3.3", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0008373 sialyltransferase activity;GO:0003835 beta-galactoside alpha-2,6-sialyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005794 Golgi apparatus;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0006054 N-acetylneuraminate metabolic process;GO:0019082 viral protein processing;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine;GO:0006487 protein N-linked glycosylation;GO:0097503 sialylation", "synthesized_glycan_count": 1722, "hit_score": 17.7, "record_id": "P15907-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43166-1", "uniprot_id": "SI1L1_HUMAN", "mass": 200029.0, "length": 1804, "protein_name": "Signal-induced proliferation-associated 1-like protein 1", "gene_name": "SIPA1L1", "organism": "Human", "refseq_name": "signal-induced proliferation-associated 1-like protein 1 isoform 2", "refseq_ac": "NP_001271174", "gene_names_uniprotkb": "SIPA1L1; E6TP1; KIAA0440", "gene_names_refseq": "E6TP1; SIPA1L1; SPAR1", "protein_names_uniprotkb": "Signal-induced proliferation-associated 1-like protein 1; E6-targeted protein 1; High-risk human papilloma viruses E6 oncoproteins targeted protein 1; SIPA1-like protein 1", "protein_names_refseq": "SIPA1-like protein 1; high-risk human papilloma viruses E6 oncoproteins targeted protein 1; signal-induced proliferation-associated 1-like protein 1 isoform 2; signal-induced proliferation-associated 1-like protein 1; spine-associated RapGAP 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:26037); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11604393;15302935;15540461;16242404;16624946;16846852;16959974;17081983;17897391;18077418;18094260;18220336;18452278;18491316;18669648;18691976;18707149;18812509;18829961;19413330;19664994;19664995;19690332;19691289;20058876;20064387;20064388;20068231;20112406;20166139;20519524;21282647;21382555;21406692;22117215;23186163;23481700;24275569;24715725;25378172;25418920;25505266;25576301;25645385;25880248;25892735;26154972;26364583;26375851;26768311;26811146;26992070;27846572;27920218;28657654;28904123;29437277;29493099;29557506;29671580;30315122;30379171;30429286;30620550;31217245;31492838;31844290;32157095;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33592498;33633747;33691108;33717175;33802862;33912179;33936100;33968037;33981976;34087483;34185709;34357683;34509645;34932366;35051231;35132862;35254053;35318648;35494241;35580925;36010968;36241641;36284347;36581221;38253038;39531497;40307207;7695896;7736595;8576240;9069287;9808458;9858596;9927700", "class_list": "", "function": "Hunting for Familial Parkinson's Disease Mutations in the Post Genome Era. Publication Status: Online-Only, [RefSeq, PubMed]; Sipa1L1 is conserved across species, has a distinct expression pattern in brain and is localized to excitatory postsynapses., [RefSeq, PubMed]; Stimulates the GTPase activity of RAP2A. Promotes reorganization of the actin cytoskeleton and recruits DLG4 to F-actin. Contributes to the regulation of dendritic spine morphogenesis (By similarity)., [UniProtKB]", "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": 5, "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": 1, "reported_phosphosites": 56, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "J3KP19;O95321;Q9UDU4;Q9UNU4", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0046875 ephrin receptor binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0015629 actin cytoskeleton;GO:0043197 dendritic spine", "go_biological_process": "GO:0050770 regulation of axonogenesis;GO:0043087 regulation of GTPase activity;GO:0048013 ephrin receptor signaling pathway;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0048167 regulation of synaptic plasticity", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "O43166-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35613-1", "uniprot_id": "BASI_HUMAN", "mass": 42200.0, "length": 385, "protein_name": "Basigin", "gene_name": "BSG", "organism": "Human", "refseq_name": "basigin isoform 2 precursor", "refseq_ac": "NP_001309172", "gene_names_uniprotkb": "BSG; PRO21383", "gene_names_refseq": "5F7; BSG; CD147; EMMPRIN; EMPRIN; HAb18G; OK; TCSF", "protein_names_uniprotkb": "Basigin; 5F7; Collagenase stimulatory factor; EMMPRIN; Extracellular matrix metalloproteinase inducer; HAb18G; Hepatoma-associated antigen; Leukocyte activation antigen M6; OK blood group antigen; TCSF; Tumor cell-derived collagenase stimulatory factor", "protein_names_refseq": "OK blood group antigen; basigin isoform 2 precursor; collagenase stimulatory factor; extracellular matrix metalloproteinase inducer; hepatoma-associated antigen; leukocyte activation antigen M6; tumor cell-derived collagenase stimulatory factor", "tax_id": 9606, "disease": "transitional cell carcinoma (Disease Ontology:DOID:2671); endometrial carcinoma (Disease Ontology:DOID:2871); breast ductal carcinoma (Disease Ontology:DOID:3007); lung squamous cell carcinoma (Disease Ontology:DOID:3907); cervical cancer (Disease Ontology:DOID:4362); renal cell carcinoma (Disease Ontology:DOID:4450); ovary serous adenocarcinoma (Disease Ontology:DOID:5744); obsolete blood group--ok (MONDO:MONDO:0020617)", "pathway": " (hsa:682); (R-HSA-1474228); (R-HSA-210991); (R-HSA-216083); (R-HSA-433692); (R-HSA-5619070); (R-HSA-9749641)", "pathway_count": 7, "publication_count": 344, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10209034;10220572;10229672;10366422;10386589;10434065;10438935;10493836;10543983;10590411;10593924;10605720;10640428;10673366;10706100;10713152;10809722;10811134;10880960;10921872;10982388;10986281;11158588;11237011;11353871;11375993;11518510;11572855;11581266;11688976;11713259;11719518;11872628;11943775;11980922;11992541;12496264;12553375;12558975;12585966;12616642;12657613;12682293;12727852;12754519;12792908;12807887;12843408;12939332;12975309;13741103;13929721;14707126;14973287;15004565;15234972;15240572;15330449;15340161;15345499;15383545;15591058;15688292;15713743;15833850;1588291;15899827;15901826;15911216;15917240;15946952;15958533;16002701;16051604;16133547;16239428;16258079;16260747;1634773;1649600;16631740;16731529;16754661;16825321;16837570;16858120;16933105;16943252;1698775;1707285;17074750;17081065;17081983;17127621;17267690;17287340;17332331;17339034;17354228;17482904;17608959;17701893;1783610;1783992;17968485;17996943;18430721;18434311;18452278;1846736;18578522;18582575;18658137;18710925;18775695;18991276;19010778;19159218;19349973;19413330;19502598;19571574;19651622;19657146;19714641;19768682;19836360;19837976;20033473;20068231;2010551;20112406;20142769;20147391;20166139;20705068;21030783;21245143;21297635;21406692;21441952;21536654;21620857;21670566;21778275;21784848;21864727;22080952;22159414;22539938;22645359;22661428;22674043;22884367;23035980;23090970;23186163;23301498;23374253;23481700;23584533;23783831;23845380;24190977;24265240;24275569;24297912;24366607;24714562;24715725;25132548;25418920;25502872;25576301;25645385;25813380;25825981;25840124;25880248;25892735;25957687;26154972;26195724;26302433;26811146;26992070;27090790;27503893;27543614;27600516;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28409866;28510447;28666119;28677105;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29739904;29741879;29786170;29789417;30315122;30410026;30429286;30444036;30459171;30484775;30524438;30573663;30619283;30779550;30833945;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31998317;32119511;32157095;32161166;32162841;32265295;32307653;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33333023;3342084;33432067;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34105348;34171305;34357683;34405274;34433824;34509645;34625749;34725712;34846842;34932366;35051231;35154160;35251023;35254053;35318648;35561310;35580925;36010968;36215666;36241641;36284347;3705620;37074911;38364890;38617545;38661040;38665916;38824220;38892056;40596516;40914422;5013373;5773090;5862532;6777177;6838677;7075587;7206363;7505120;7525578;7541634;7542249;7547873;7559467;7685013;7802672;7812975;8118028;8124722;8226919;8344274;8560266;8626565;8798654;8838667;8910476;9065415;9115292;9130641;9144407;9148753;9251239;931988;9360995;9443892;9461298;9565552;975718;9767135;9786900;9852107;9858236", "class_list": "", "function": "(Microbial infection) Acts as a receptor for measles virus., [UniProtKB, PubMed]; (Microbial infection) Can facilitate HIV-1 infection via its interaction with virus-associated PPIA/CYPA., [UniProtKB, PubMed]; (Microbial infection) Can facilitate human SARS coronavirus (SARS-CoV-1) infection via its interaction with virus-associated PPIA/CYPA., [UniProtKB, PubMed]; (Microbial infection) Erythrocyte receptor for P.falciparum RH5 which is essential for erythrocyte invasion by the merozoite stage of P.falciparum isolates 3D7, Dd2, 7G8 and HB3 (PubMed:22080952, PubMed:26195724). Binding of P.falciparum RH5 results in BSG dimerization which triggers an increase in intracellular Ca(2+) in the erythrocyte (PubMed:28409866). This essential step leads to a rearrangement of the erythrocyte cytoskeleton required for the merozoite invasion (PubMed:28409866)., [UniProtKB, PubMed, PubMed, PubMed]; (Microbial infection) First described as a receptor for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), it is not required for SARS-CoV-2 infection., [UniProtKB, PubMed, PubMed]; (Microbial infection) Promotes entry of pentamer-expressing human cytomegalovirus (HCMV) into epithelial and endothelial cells., [UniProtKB, PubMed]; ADAM12-Generated Basigin Ectodomain Binds beta1 Integrin and Enhances the Expression of Cancer-Related Extracellular Matrix Proteins. Publication Status: Online-Only, [RefSeq, PubMed]; CD147 mediates S protein pseudovirus of SARS-CoV-2 infection and its induction of spermatogonia apoptosis., [RefSeq, PubMed]; Essential for normal retinal maturation and development (By similarity). Acts as a retinal cell surface receptor for NXNL1 and plays an important role in NXNL1-mediated survival of retinal cone photoreceptors (PubMed:25957687). In association with glucose transporter SLC16A1/GLUT1 and NXNL1, promotes retinal cone survival by enhancing aerobic glycolysis and accelerating the entry of glucose into photoreceptors (PubMed:25957687). May act as a potent stimulator of IL6 secretion in multiple cell lines that include monocytes (PubMed:21620857)., [UniProtKB, UniProtKB, PubMed, PubMed]; MCT4 and CD147 colocalize with MMP14 in invadopodia and support matrix degradation and invasion by breast cancer cells., [RefSeq, PubMed]; Plays a role in neurite outgrowth., [UniProtKB, UniProtKB]; Signaling receptor for cyclophilins, essential for PPIA/CYPA and PPIB/CYPB-dependent signaling related to chemotaxis and adhesion of immune cells (PubMed:11688976, PubMed:11943775). Plays an important role in targeting monocarboxylate transporters SLC16A1/GLUT1, SLC16A11 and SLC16A12 to the plasma membrane (PubMed:17127621, PubMed:21778275, PubMed:28666119). Acts as a coreceptor for vascular endothelial growth factor receptor 2 (KDR/VEGFR2) in endothelial cells enhancing its VEGFA-mediated activation and downstream signaling (PubMed:25825981). Promotes angiogenesis through EPAS1/HIF2A-mediated up-regulation of VEGFA (isoform VEGF-165 and VEGF-121) and KDR/VEGFR2 in endothelial cells (PubMed:19837976). Plays a key role in regulating tumor growth, invasion, metastasis and neoangiogenesis by stimulating the production and release of extracellular matrix metalloproteinases and KDR/VEGFR2 by both tumor cells and stromal cells (fibroblasts and endothelial cells) (PubMed:11992541, PubMed:12553375, PubMed:15833850)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TIE1 promotes cervical cancer progression via Basigin-matrix metalloproteinase axis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene, basigin, is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. Basigin is also a member of the immunoglobulin superfamily, ubiquitously expressed in various tissues. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2020]., [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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 8, "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": 2, "reported_phosphosites": 4, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 63, "disease_count": 8, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "A6NJW1;D3YLG5;Q7Z796;Q8IZL7", "ec_number_list": "", "go_molecular_function": "GO:0045296 cadherin binding;GO:0001618 virus receptor activity;GO:0005537 D-mannose binding;GO:0098632 cell-cell adhesion mediator activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005739 mitochondrion;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "GO:1904466 positive regulation of matrix metallopeptidase secretion;GO:0001525 angiogenesis;GO:0003407 neural retina development;GO:0007166 cell surface receptor signaling pathway;GO:0072659 protein localization to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 42.0, "record_id": "P35613-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UNP4-1", "uniprot_id": "SIAT9_HUMAN", "mass": 47990.0, "length": 418, "protein_name": "Lactosylceramide alpha-2,3-sialyltransferase", "gene_name": "ST3GAL5", "organism": "Human", "refseq_name": "lactosylceramide alpha-2,3-sialyltransferase isoform 2", "refseq_ac": "NP_001035902", "gene_names_uniprotkb": "ST3GAL5; PRO5998; SIAT9", "gene_names_refseq": "SATI; SIAT9; SIATGM3S; SPDRS; ST3GAL5; ST3Gal V; ST3GalV", "protein_names_uniprotkb": "Lactosylceramide alpha-2,3-sialyltransferase; 2.4.3.9; CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase; Ganglioside GM3 synthase; ST3Gal V; ST3GalV; Sialyltransferase 9", "protein_names_refseq": "GM3 synthase); ST3 beta-galactoside alpha-23-sialyltransferase 5; alpha 2,3-sialyltransferase V; ganglioside GM3 synthase; lactosylceramide alpha-2,3-sialyltransferase isoform 2; sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase", "tax_id": 9606, "disease": "salt and pepper syndrome (Disease Ontology:DOID:0060470)", "pathway": " (hsa:8869); (R-HSA-4085001); (R-HSA-9840309)", "pathway_count": 3, "publication_count": 114, "publication_id_list": "10.1101/2023.09.13.557529;10191093;10206952;10330343;10334995;10405317;10431835;10504389;10536037;10581036;10601645;10742600;10748143;10749855;10861246;10947946;10993897;11018043;11062056;11237011;11279095;11283017;11528398;11602804;11751519;11916006;11956206;12177386;12222957;12235148;12473780;12603328;12668675;12743242;12815231;12888565;12975309;14962670;15136692;15213228;15501818;15502825;15576474;1601877;16147865;16237198;16934889;17123352;1756715;18632803;19797320;20547865;21081508;2118655;22692205;22735313;22990144;23290777;23746551;23882130;24026681;24190977;24498430;26154972;26649472;27232954;27600516;28904123;29314611;29393594;29632046;29802621;30185102;30429286;30576498;3136930;31844290;31848261;32157095;32350084;32488085;32938616;32983136;33936100;33968037;34357683;34982351;35051231;35251023;35580925;36010968;36172374;36690566;37676252;7252518;7559389;7876235;7890749;8333853;8591035;8611500;8631981;8643456;8830034;8910600;8920913;8985184;9010752;9030544;9125199;9199191;9582303;9822625;9826427", "class_list": "glycogene;glycosyltransferase", "function": "GM3 synthase deficiency is a neurodevelopmental disorder with consistent features of profound intellectual disability, choreoathetosis, and deafness., [RefSeq, PubMed]; Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; HEK-293T clones permanently expressing HaloTag-ST3GAL5 carrying each of the five variants were assessed by quantitative PCR, flow cytometry, western blotting and confocal microscopy. Compared with the very mild phenotype of st3gal5 KO mouse models, the results suggest that unknown mechanisms, in addition to the lack of a-b-c-series gangliosides, contribute to the syndrome., [RefSeq, PubMed]; Identification of ST3GAL5 as a prognostic biomarker correlating with CD8(+) T cell exhaustion in clear cell renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants., [RefSeq, PubMed]; Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants., [RefSeq, PubMed]; Transfers the sialyl group (N-acetyl-alpha-neuraminyl or NeuAc) from CMP-NeuAc to the non-reducing terminal galactose (Gal) of glycosphingolipids forming gangliosides (important molecules involved in the regulation of multiple cellular processes, including cell proliferation and differentiation, apoptosis, embryogenesis, development, and oncogenesis) (PubMed:16934889, PubMed:9822625). Mainly involved in the biosynthesis of ganglioside GM3 but can also use different glycolipids as substrate acceptors such as D-galactosylceramide (GalCer), asialo-GM2 (GA2) and asialo-GM1 (GA1), although less preferentially than beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer (LacCer) (PubMed:16934889)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, 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": 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": 486, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KM82;D6W5L9;O94902;Q53QU1;Q6NZX4;Q6YFL1", "ec_number_list": "2.4.3.2;2.4.3.4;2.4.3.6;2.4.3.9", "go_molecular_function": "GO:0008373 sialyltransferase activity;GO:0003836 beta-galactoside (CMP) alpha-2,3-sialyltransferase activity;GO:0047291 lactosylceramide alpha-2,3-sialyltransferase activity;GO:0016757 glycosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane", "go_biological_process": "GO:0006688 glycosphingolipid biosynthetic process;GO:0009101 glycoprotein biosynthetic process;GO:0001574 ganglioside biosynthetic process;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 412, "hit_score": 11.9, "record_id": "Q9UNP4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92185-1", "uniprot_id": "SIA8A_HUMAN", "mass": 40519.0, "length": 356, "protein_name": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase", "gene_name": "ST8SIA1", "organism": "Human", "refseq_name": "alpha-N-acetylneuraminide alpha-2,8-sialyltransferase isoform 2", "refseq_ac": "NP_001291379", "gene_names_uniprotkb": "ST8SIA1; SIAT8A; SIAT8", "gene_names_refseq": "GD3S; SIAT8-A; SIAT8A; SIAT8; ST8SIA1; ST8SiaI", "protein_names_uniprotkb": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase; 2.4.3.8; Alpha-2,8-sialyltransferase 8A; Ganglioside GD3 synthase; Ganglioside GT3 synthase; SIAT8-A; ST8SiaI; Sialyltransferase 8A; Sialyltransferase St8Sia I", "protein_names_refseq": "ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 1; alpha-2,8-sialyltransferase 8A; alpha-N-acetylneuraminide alpha-2,8-sialyltransferase isoform 2; alpha-N-acetylneuraminide alpha-2,8-sialyltransferase; disialoganglioside (GD3) synthase; ganglioside GD3 synthase; ganglioside GT3 synthase; ganglioside-specific alpha-2,8-polysialyltransferase; sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A; sialyltransferase 8A (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase); sialyltransferase St8Sia I; sialytransferase St8Sia I", "tax_id": 9606, "disease": "", "pathway": " (hsa:6489); (R-HSA-4085001)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "10191093;10206952;10330343;10334995;10405317;10431835;10504389;10536037;10581036;10742600;10749855;10861246;10947946;11062056;11237011;11279095;11528398;11602804;11751519;11916006;12177386;12235148;12473780;12603328;12668675;12743242;14962670;15136692;15213228;15501818;15576474;15843597;16147865;16237198;17123352;1756715;18348864;18632803;19797320;21081508;22692205;22885356;25576301;28218747;29437277;30410026;3136930;32157095;32357974;33846784;34160287;34738863;35051231;36897478;37554309;7252518;7559389;7937974;8058740;8195250;8333853;8591035;8611500;8631981;8706663;8920913;8985184;9010752;9199191;9822625;9826427", "class_list": "glycogene;glycosyltransferase", "function": "BACH1 Binding Links the Genetic Risk for Severe Periodontitis with ST8SIA1., [RefSeq, PubMed]; Catalyzes the addition of sialic acid in alpha 2,8-linkage to the sialic acid moiety of the ganglioside GM3 to form ganglioside GD3; gangliosides are a subfamily of complex glycosphingolipds that contain one or more residues of sialic acid (PubMed:18348864, PubMed:22885356, PubMed:7937974, PubMed:8058740, PubMed:8195250, PubMed:8631981, PubMed:8706663). Can catalyze the addition of a second alpha-2,8-sialic acid to GD3 to form GT3 (PubMed:8631981). Can use GM1b, GD1a and GT1b as acceptor substrates to synthesize GD1c, GT1a and GQ1b respectively (PubMed:8706663). Can synthesize unusual tetra- and pentasialylated lactosylceramide derivatives identified as GQ3 (II3Neu5Ac4-Gg2Cer) and GP3 (II3Neu5Ac5-Gg2Cer) in breast cancer cells (PubMed:22885356)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]., [RefSeq]; Knockdown of lncRNA MIR44352HG and ST8SIA1 expression inhibits the proliferation, invasion and migration of prostate cancer cells in vitro and in vivo by blocking the activation of the FAK/AKT/betacatenin signaling pathway., [RefSeq, PubMed]; Long noncoding RNA NR2F1-AS1 plays a carcinogenic role in gastric cancer by recruiting transcriptional factor SPI1 to upregulate ST8SIA1 expression., [RefSeq, PubMed]; Possible regulation of ganglioside GD3 synthase gene expression with DNA methylation in human glioma cells., [RefSeq, PubMed]; The yes-associated protein (YAP) is associated with resistance to anti-GD2 immunotherapy in neuroblastoma through downregulation of ST8SIA1. Publication Status: Online-Only, [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": 6, "reported_glycation": 0, "reported_snv": 410, "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": "A8K4H6;Q17RL0;Q6PZN5;Q93064", "ec_number_list": "2.4.99.-;2.4.3.-;2.4.3.8", "go_molecular_function": "GO:0003828 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity;GO:0008373 sialyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane", "go_biological_process": "GO:0006688 glycosphingolipid biosynthetic process;GO:0005975 carbohydrate metabolic process;GO:0009311 oligosaccharide metabolic process;GO:0006491 N-glycan processing;GO:0009101 glycoprotein biosynthetic process", "synthesized_glycan_count": 21, "hit_score": 7.2, "record_id": "Q92185-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14920-1", "uniprot_id": "IKKB_HUMAN", "mass": 86564.0, "length": 756, "protein_name": "Inhibitor of nuclear factor kappa-B kinase subunit beta", "gene_name": "IKBKB", "organism": "Human", "refseq_name": "inhibitor of nuclear factor kappa-B kinase subunit beta isoform 5", "refseq_ac": "NP_001229707", "gene_names_uniprotkb": "IKBKB; IKKB", "gene_names_refseq": "IKBKB; IKK-2; IKK-beta; IKK2; IKKB; IMD15A; IMD15B; IMD15; NFKBIKB", "protein_names_uniprotkb": "Inhibitor of nuclear factor kappa-B kinase subunit beta; 2.7.11.10; 2.7.11.1; I-kappa-B kinase 2; I-kappa-B-kinase beta; IKK-2; IKK-B; IKK-beta; IKK2; IkBKB; NFKBIKB; Nuclear factor NF-kappa-B inhibitor kinase beta; Serine/threonine protein kinase IKBKB", "protein_names_refseq": "I-kappa-B kinase 2; I-kappa-B-kinase beta; inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta; inhibitor of nuclear factor kappa-B kinase subunit beta isoform 5; nuclear factor NF-kappa-B inhibitor kinase beta; nuclear factor kappa B kinase subunit beta; serine/threonine protein kinase IKBKB", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); immunodeficiency 15B (Disease Ontology:DOID:0111959); immunodeficiency 15A (Disease Ontology:DOID:0111960); prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); breast cancer (Disease Ontology:DOID:1612); colon cancer (Disease Ontology:DOID:219); transient cerebral ischemia (Disease Ontology:DOID:224); prostate adenocarcinoma (Disease Ontology:DOID:2526); dermatitis (Disease Ontology:DOID:2723); liver cancer (Disease Ontology:DOID:3571); pneumonia (Disease Ontology:DOID:552); muscular atrophy (Disease Ontology:DOID:767); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:3551); (R-HSA-1169091); (R-HSA-1236974); (R-HSA-168638); (R-HSA-168927); (R-HSA-1810476); (R-HSA-202424); (R-HSA-209543); (R-HSA-209560); (R-HSA-2871837); (R-HSA-445989); (R-HSA-5357905); (R-HSA-5357956); (R-HSA-5602636); (R-HSA-5603027); (R-HSA-5603029); (R-HSA-5607764); (R-HSA-5684264); (R-HSA-9020702); (R-HSA-933542); (R-HSA-933543); (R-HSA-937039); (R-HSA-937041); (R-HSA-9705671); (R-HSA-975144); (R-HSA-9758274); (R-HSA-9833482); (R-HSA-9860276); (R-HSA-9860927); (R-HSA-9909505)", "pathway_count": 30, "publication_count": 632, "publication_id_list": 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"class_list": "", "function": "GRP78 recognizes EV-F 3D protein and activates NF-kappaB to repress virus replication by interacting with CHUK/IKBKB., [RefSeq, PubMed]; IkappaB kinase phosphorylates cytoplasmic TDP-43 and promotes its proteasome degradation., [RefSeq, PubMed]; Novel association between single-nucleotide polymorphisms of IKKbeta at rs17875746 and rs12676482 and periodontitis., [RefSeq, PubMed]; Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses (PubMed:20434986, PubMed:20797629, PubMed:21138416, PubMed:30337470, PubMed:9346484). Acts as a part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation (PubMed:9346484). Phosphorylates inhibitors of NF-kappa-B on 2 critical serine residues (PubMed:20434986, PubMed:20797629, PubMed:21138416, PubMed:9346484). These modifications allow polyubiquitination of the inhibitors and subsequent degradation by the proteasome (PubMed:20434986, PubMed:20797629, PubMed:21138416, PubMed:9346484). In turn, free NF-kappa-B is translocated into the nucleus and activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis (PubMed:20434986, PubMed:20797629, PubMed:21138416, PubMed:9346484). In addition to the NF-kappa-B inhibitors, phosphorylates several other components of the signaling pathway including NEMO/IKBKG, NF-kappa-B subunits RELA and NFKB1, as well as IKK-related kinases TBK1 and IKBKE (PubMed:11297557, PubMed:14673179, PubMed:20410276, PubMed:21138416). IKK-related kinase phosphorylations may prevent the overproduction of inflammatory mediators since they exert a negative regulation on canonical IKKs (PubMed:11297557, PubMed:20410276, PubMed:21138416). Phosphorylates FOXO3, mediating the TNF-dependent inactivation of this pro-apoptotic transcription factor (PubMed:15084260). Also phosphorylates other substrates including NAA10, NCOA3, BCL10 and IRS1 (PubMed:17213322, PubMed:19716809). Phosphorylates RIPK1 at 'Ser-25' which represses its kinase activity and consequently prevents TNF-mediated RIPK1-dependent cell death (By similarity). Phosphorylates the C-terminus of IRF5, stimulating IRF5 homodimerization and translocation into the nucleus (PubMed:25326418). Following bacterial lipopolysaccharide (LPS)-induced TLR4 endocytosis, phosphorylates STAT1 at 'Thr-749' which restricts interferon signaling and anti-inflammatory responses and promotes innate inflammatory responses (PubMed:38621137). IKBKB-mediated phosphorylation of STAT1 at 'Thr-749' promotes binding of STAT1 to the ARID5A promoter, resulting in transcriptional activation of ARID5A and subsequent ARID5A-mediated stabilization of IL6 (PubMed:32209697). It also promotes binding of STAT1 to the IL12B promoter and activation of IL12B transcription (PubMed:32209697)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variants, some protein-coding and some not, 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": 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": 50, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 15, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DZ30;B4E0U4;O75327", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;3.4.19.12;2.7.11.22;2.7.11.13;3.6.4.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.2.-;2.3.1.48;3.6.5.-;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.23;2.3.2.27;2.7.11.12;5.2.1.8;2.7.11.17;6.3.2.n3;2.7.11.8;3.4.22.61;2.7.11.19;4.1.1.32;2.7.11.38;2.7.11.34;3.4.22.63;2.3.2.31;3.6.-.-;3.6.1.-;3.4.22.-;2.7.1.150", "go_molecular_function": "GO:0008384 IkappaB kinase activity;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045121 membrane raft;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0070498 interleukin-1-mediated signaling pathway;GO:1903140 regulation of establishment of endothelial barrier;GO:1903347 negative regulation of bicellular tight junction assembly;GO:0006468 protein phosphorylation;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 63.6, "record_id": "O14920-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P16473-1", "uniprot_id": "TSHR_HUMAN", "mass": 86844.0, "length": 764, "protein_name": "Thyrotropin receptor", "gene_name": "TSHR", "organism": "Human", "refseq_name": "thyrotropin receptor isoform 1 precursor", "refseq_ac": "NP_000360", "gene_names_uniprotkb": "TSHR; LGR3", "gene_names_refseq": "CHNG1; LGR3; TSHR; hTSHR-I", "protein_names_uniprotkb": "Thyrotropin receptor; TSH-R; Thyroid-stimulating hormone receptor", "protein_names_refseq": "TSH receptor; seven transmembrane helix receptor; thyrotropin receptor isoform 1 precursor; thyrotropin receptor-I, hTSHR-I", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); cardiomyopathy (Disease Ontology:DOID:0050700); congenital nongoitrous hypothyroidism 1 (Disease Ontology:DOID:0070126); nonautoimmune hyperthyroidism (Disease Ontology:DOID:0081101); familial gestational hyperthyroidism (Disease Ontology:DOID:0081102); Graves ophthalmopathy (Disease Ontology:DOID:0081120); Graves' disease (Disease Ontology:DOID:12361); hyperthyroidism (Disease Ontology:DOID:7998); mitral valve prolapse (Disease Ontology:DOID:988)", "pathway": " (hsa:7253); (R-HSA-375281); (R-HSA-418555)", "pathway_count": 3, "publication_count": 163, "publication_id_list": "10037070;10199795;10487707;10540180;10560955;10651846;10720030;10852462;10870027;10946859;11007482;11014210;11022192;11081252;11095460;11127522;11128715;11201847;11237011;11434721;11442002;11502179;11517004;11549687;11707068;11726197;11847099;11887032;12036966;12039074;12045258;12050212;12058044;12106601;12180353;12213664;12589819;12593721;12788902;12860470;12930595;1333190;13549488;1445355;14671004;14725684;14759073;15163335;1517224;1530609;15531543;15671578;15765929;15769620;15775968;15951850;16313925;16687412;16756473;16923326;1709010;17095587;17168849;17542669;18044684;18577758;19006286;19105585;1922095;1955520;19876791;19929708;2017190;20381629;20484489;21036126;2163110;21657270;2244890;2293030;2302212;23386414;23592747;2417744;24687066;2491850;2553411;2553705;2558651;25811175;25892735;25978107;2610690;26398856;26417854;26774084;27638195;2871555;29443750;29602314;30618332;30833991;30843179;3127824;31279028;31399091;31983287;32198668;32226383;32497535;32540603;32618402;32715661;33049737;35940204;35940205;37074911;38194289;38433572;38566871;39082947;39337518;6085243;6090951;7488864;7508946;7512341;7528344;7556878;7647578;7649152;7800007;7920658;7980849;7989485;8045989;8188646;8340388;8413627;8514797;8636266;8672451;8702611;8747461;8954020;8964822;9062474;9100579;9156519;9185526;9253356;9263355;9294132;9300077;9329388;9349581;9360555;9398746;9417641;9419371;9589634;9651336;9854118", "class_list": "", "function": "A Novel TSHR Gene Mutation in a Family with Non-autoimmune Hyperthyroidism., [RefSeq, PubMed]; Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR). Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin (PubMed:11847099, PubMed:12045258). Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin (PubMed:12045258). TSHR is coupled to G(s) proteins and mediates the activation of adenylate cyclase (PubMed:11847099, PubMed:35940205, PubMed:35940204). This leads to the generation of cyclic adenosine monophosphate (cAMP), which in turn activates protein kinase A (PKA). PKA subsequently phosphorylates downstream targets involved in thyroid hormone biosynthesis and secretion, including thyroid peroxidase (TPO) and the sodium/iodide symporter (NIS) (PubMed:27638195). Additionally, plays a central role in controlling thyroid cell metabolism (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin. Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin. TSHR is coupled to G(s) proteins and mediates the activation of adenylate cyclase. This leads to the generation of cyclic adenosine monophosphate (cAMP), which in turn activates protein kinase A (PKA). PKA subsequently phosphorylates downstream targets involved in thyroid hormone biosynthesis and secretion, including thyroid peroxidase (TPO) and the sodium/iodide symporter (NIS). Additionally, plays a central role in controlling thyroid cell metabolism., [UniProtKB, UniProtKB, UniProtKB]; TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism., [RefSeq, PubMed]; TSHR-IGF-IR complex drives orbital fibroblast misbehavior in thyroid eye disease. Review article, [RefSeq, PubMed]; The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three 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": 6, "mined_n_glycosites": 6, "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": 7, "reported_glycation": 0, "reported_snv": 83, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 9, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A0MTJ0;A0PJU7;F5GYU5;G3V2A9;Q16503;Q8TB90;Q96GT6;Q9P1V4;Q9ULA3;Q9UPH3", "ec_number_list": "", "go_molecular_function": "GO:0004996 thyroid-stimulating hormone receptor activity;GO:0004930 G protein-coupled receptor activity;GO:0044877 protein-containing complex binding;GO:0008528 G protein-coupled peptide receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016323 basolateral plasma membrane;GO:0043235 receptor complex;GO:0016020 membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007267 cell-cell signaling;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 17.3, "record_id": "P16473-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q147U7-1", "uniprot_id": "SMCO1_HUMAN", "mass": 24598.0, "length": 214, "protein_name": "Single-pass membrane and coiled-coil domain-containing protein 1", "gene_name": "SMCO1", "organism": "Human", "refseq_name": "single-pass membrane and coiled-coil domain-containing protein 1 isoform 1", "refseq_ac": "NP_001071125", "gene_names_uniprotkb": "SMCO1; C3orf43", "gene_names_refseq": "C3orf43; SMCO1", "protein_names_uniprotkb": "Single-pass membrane and coiled-coil domain-containing protein 1; Single-pass membrane protein with coiled-coil domains 1", "protein_names_refseq": "single-pass membrane and coiled-coil domain-containing protein 1 isoform 1; single-pass membrane and coiled-coil domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:255798)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;18491316", "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": 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": "B3KW20", "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": "Q147U7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14983-1", "uniprot_id": "AT2A1_HUMAN", "mass": 110252.0, "length": 1001, "protein_name": "Sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "gene_name": "ATP2A1", "organism": "Human", "refseq_name": "sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform c", "refseq_ac": "NP_001273004", "gene_names_uniprotkb": "ATP2A1", "gene_names_refseq": "ATP2A1; ATP2A; SERCA1", "protein_names_uniprotkb": "Sarcoplasmic/endoplasmic reticulum calcium ATPase 1; 7.2.2.10; Calcium pump 1; Calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform; Endoplasmic reticulum class 1/2 Ca(2+) ATPase; SERCA1; SR Ca(2+)-ATPase 1", "protein_names_refseq": "ATPase, Ca++ transporting, cardiac muscle, fast twitch 1; SR Ca(2+)-ATPase 1; calcium pump 1; endoplasmic reticulum class 1/2 Ca(2+) ATPase; sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform c; sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "tax_id": 9606, "disease": "Brody myopathy (Disease Ontology:DOID:0050692); heart disease (Disease Ontology:DOID:114); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:487); (R-HSA-1912420); (R-HSA-418359); (R-HSA-5578775); (R-HSA-936837)", "pathway_count": 5, "publication_count": 162, "publication_id_list": "10075724;10220561;10366590;10401004;10459009;10484781;10545110;10615129;10669757;10767338;10913253;10914677;10935626;10935637;11062458;11135303;11237011;11530204;11707585;11904675;12049766;12119109;12406570;12832055;12953268;1295745;1374913;15174025;15260953;15598648;15754088;15831496;15919184;15925480;16182249;1656976;16700898;16754674;1693919;17224452;17357072;17486119;1764995;18723824;18995841;19278978;19345671;19701457;19751721;19878721;20068231;20112406;20170518;20197277;20298697;20388710;21097675;21108950;2160952;22186024;22210847;2226863;22427649;22707725;22972900;23196729;23362265;23481700;23549614;23610579;2430951;24392018;24714562;2477373;2559024;25645385;25994790;26154972;26421717;26992070;27067231;27452731;27600516;27846572;27869121;27920218;28218747;28228285;2838329;2844759;28487373;28645727;28832583;28834231;28890335;28904123;29242379;29508533;2953725;29557506;29632711;29786170;30315122;30484775;30524438;30779550;30833945;31154438;31222486;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33019581;33801794;33968037;34087483;34205207;34211107;34509645;34561969;35051231;35154160;35580925;36010968;36215666;36241641;36284347;37217939;5961668;6328127;6832622;7626145;7702581;7918097;7929371;8021246;8045293;8293978;8298639;8490646;8490659;8681805;8798450;8825625;8918259;9147644;9187150;9207795;9244302;9307043;9346285;9653148;9727485", "class_list": "", "function": "Atomistic Structure and Dynamics of the Ca(2+)-ATPase Bound to Phosphorylated Phospholamban. Publication Status: Online-Only, [RefSeq, PubMed]; Crosstalk among Calcium ATPases: PMCA, SERCA and SPCA in Mental Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) into the sarcoplasmic reticulum. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen (By similarity). Contributes to calcium sequestration involved in muscular excitation/contraction (PubMed:10914677)., [UniProtKB, PubMed, UniProtKB]; Sorcin Activates the Brain PMCA and Blocks the Inhibitory Effects of Molecular Markers of Alzheimer's Disease on the Pump Activity. Publication Status: Online-Only, [RefSeq, PubMed]; These results suggest that sAnk1 interacts with SLN both directly and in complex with SERCA1 and reduces SLN's inhibitory effect on SERCA1 activity., [RefSeq, PubMed]; This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "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": "A8K5J9;B3KY17;O14984", "ec_number_list": "7.2.2.10;3.6.5.2;2.7.11.17", "go_molecular_function": "GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0016887 ATP hydrolysis activity;GO:0005509 calcium ion binding;GO:0005388 P-type calcium transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0005789 endoplasmic reticulum membrane;GO:0031674 I band", "go_biological_process": "GO:1902082 positive regulation of calcium ion import into sarcoplasmic reticulum;GO:0006816 calcium ion transport;GO:0006874 intracellular calcium ion homeostasis;GO:0034220 monoatomic ion transmembrane transport;GO:1903779 regulation of cardiac conduction", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "O14983-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5TF21-1", "uniprot_id": "MTCL3_HUMAN", "mass": 103199.0, "length": 947, "protein_name": "Microtubule cross-linking factor 3", "gene_name": "MTCL3", "organism": "Human", "refseq_name": "microtubule cross-linking factor 3 precursor", "refseq_ac": "NP_001387194", "gene_names_uniprotkb": "MTCL3; C6orf174; SOGA3", "gene_names_refseq": "C6orf174; MTCL3; SOGA3; dJ403A15.3", "protein_names_uniprotkb": "Microtubule cross-linking factor 3", "protein_names_refseq": "SOGA family member 3; microtubule cross-linking factor 3 precursor; microtubule cross-linking factor 3; protein SOGA3", "tax_id": 9606, "disease": "", "pathway": " (hsa:387104)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;20068231;20166139;27397612;27543614;29242379;29493099;29557506;31154438;31844290;31848261;32157095;32387766;32488085;32502341;32938616;33592498;33633747;33717175;33968037;33981976;34405274;34509645;36010968;38253038", "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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "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_cellular_component": "GO:0005615 extracellular space;GO:0016020 membrane", "go_biological_process": "GO:0010506 regulation of autophagy", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q5TF21-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NBJ9-1", "uniprot_id": "SIDT2_HUMAN", "mass": 94454.0, "length": 832, "protein_name": "SID1 transmembrane family member 2", "gene_name": "SIDT2", "organism": "Human", "refseq_name": "SID1 transmembrane family member 2 precursor", "refseq_ac": "NP_001035545", "gene_names_uniprotkb": "SIDT2; CGI-40; PRO1325; PSEC0072", "gene_names_refseq": "CGI-40; SIDT2", "protein_names_uniprotkb": "SID1 transmembrane family member 2", "protein_names_refseq": "SID1 transmembrane family member 2 precursor", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208)", "pathway": " (hsa:51092)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;15340161;16303743;17081983;17897319;18669648;19415658;19651622;19913121;20628086;24190977;25576301;25892735;27046251;27846365;27920218;28277980;28904123;29242379;29393594;29557506;29632046;29632711;30573663;31154438;31222486;31844290;31848261;32157095;32350084;32387766;32488085;32983136;33043033;33912179;34357683;34433824;34800582;35051231;35251023;35580925;36678241;37074911;37202201;37322007;37830567;38253038", "class_list": "", "function": "Interaction between SIDT2 and ABCA1 Variants with Nutrients on HDL-c Levels in Mexican Adults. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates the translocation of RNA and DNA across the lysosomal membrane during RNA and DNA autophagy (RDA), a process in which RNA or DNA is directly imported into lysosomes in an ATP-dependent manner, and degraded (PubMed:27046251, PubMed:27846365). Involved in the uptake of single-stranded oligonucleotides by living cells, a process called gymnosis (PubMed:28277980). In vitro, mediates the uptake of linear DNA more efficiently than that of circular DNA, but exhibits similar uptake efficacy toward RNA and DNA. Binds long double-stranded RNA (dsRNA) (500 - 700 base pairs), but not dsRNA shorter than 100 bp (By similarity)., [UniProtKB, PubMed, PubMed, 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]; Pathology-associated change in levels and localization of SIDT2 in postmortem brains of Parkinson's disease and dementia with Lewy bodies patients., [RefSeq, PubMed]; SIDT2 Associates with Apolipoprotein A1 (ApoA1) and Facilitates ApoA1 Secretion in Hepatocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Structural insight into the human SID1 transmembrane family member 2 reveals its lipid hydrolytic activity. Publication Status: Online-Only, [RefSeq, PubMed]; [Lysosomal membrane protein Sidt2 knockout induces apoptosis of human hepatocytes in vitro independent of the autophagy-lysosomal pathway]., [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": 6, "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": 6, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "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": 51, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 1, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "Q8NBY7;Q9Y357", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0035612 AP-2 adaptor complex binding;GO:0003725 double-stranded RNA binding;GO:0035650 AP-1 adaptor complex binding;GO:0051033 RNA transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0016020 membrane", "go_biological_process": "GO:0050658 RNA transport;GO:0006401 RNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q8NBJ9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N7X8-1", "uniprot_id": "SIGL1_HUMAN", "mass": 21283.0, "length": 197, "protein_name": "SIGLEC family-like protein 1", "gene_name": "SIGLECL1", "organism": "Human", "refseq_name": "SIGLEC family-like protein 1 isoform 1", "refseq_ac": "NP_775906", "gene_names_uniprotkb": "SIGLECL1; C19orf75", "gene_names_refseq": "C19orf75; SIGLEC23P; SIGLECL1; SIGLECP7", "protein_names_uniprotkb": "SIGLEC family-like protein 1", "protein_names_refseq": "SIGLEC family-like protein 1 isoform 1; SIGLEC family-like protein 1; sialic acid binding Ig-like lectin, pseudogene 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:284369)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;24190977;29557506;30484775;32647856;33141586;38253038", "class_list": "", "function": "CD33 and SIGLECL1 Immunoglobulin Superfamily Involved in Dementia., [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": 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": 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": 3, "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": 1.2, "record_id": "Q8N7X8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IVB4-1", "uniprot_id": "SL9A9_HUMAN", "mass": 72565.0, "length": 645, "protein_name": "Sodium/hydrogen exchanger 9", "gene_name": "SLC9A9", "organism": "Human", "refseq_name": "sodium/hydrogen exchanger 9", "refseq_ac": "NP_775924", "gene_names_uniprotkb": "SLC9A9; NHE9; Nbla00118", "gene_names_refseq": "AUTS16; NHE9; SLC9A9", "protein_names_uniprotkb": "Sodium/hydrogen exchanger 9; NHE-9; Na(+)/H(+) exchanger 9; Solute carrier family 9 member 9", "protein_names_refseq": "Na(+)/H(+) exchanger 9; putative protein product of Nbla00118; sodium/hydrogen exchanger 9; sodium/proton exchanger NHE9; solute carrier family 9 (sodium/hydrogen exchanger); solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); autistic disorder (Disease Ontology:DOID:12849); autism, susceptibility to, 16 (MONDO:MONDO:0013258)", "pathway": " (hsa:285195); (R-HSA-425986); (R-HSA-5619052)", "pathway_count": 3, "publication_count": 51, "publication_id_list": "10444453;11237011;11279194;11940519;12880961;14569117;15522866;18057008;18621663;18649358;18821565;19159218;19901323;24065030;2536298;25880248;25892735;28130443;28218747;28228285;28832583;28904123;29242379;29268774;29437277;29508533;29557506;29769354;30410026;30927234;31844290;31848261;32350084;32357974;32400953;32488085;32938616;33118634;33141586;33298915;33633747;33912179;34211107;34357683;34932366;35051231;35154160;35580925;38945311;7631746;9933641", "class_list": "", "function": "Downregulation of miR-135a as a potential mechanism underlying the high NHE9 expression observed in subset of glioblastomas Publication Status: Online-Only, [RefSeq, PubMed]; Endosomal Na(+), K(+)/H(+) antiporter. Mediates the electroneutral exchange of endosomal luminal H(+) for a cytosolic Na(+) or K(+) (Probable). By facilitating proton efflux, SLC9A9 counteracts the acidity generated by vacuolar (V)-ATPase, thereby limiting luminal acidification. Regulates organellar pH and consequently, e.g., endosome maturation and endocytic trafficking of plasma membrane receptors and neurotransporters (PubMed:15522866, PubMed:24065030, PubMed:28130443). Promotes the recycling of transferrin receptors back to the cell surface to facilitate additional iron uptake in the brain (PubMed:28130443). Regulates synaptic transmission by regulating the luminal pH of axonal endosomes (By similarity). Regulates phagosome lumenal pH, thus affecting phagosome maturation, and consequently, microbicidal activity in macrophages (By similarity). Can also be active at the cell surface of specialized cells, e.g., in the inner ear hair bundles uses the high K(+) of the endolymph to regulate intracellular pH (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Genes for endosomal pH regulators NHE6 and NHE9 are dysregulated in the substantia nigra in Parkinson's disease., [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 provide a detailed understanding of the functions of protein NHE9 and its disrupted interactions, possibly underlying Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorders., [RefSeq, PubMed]; Sodium hydrogen exchanger 9 NHE9 (SLC9A9) and its emerging roles in neuropsychiatric comorbidity., [RefSeq, PubMed]; Structure and elevator mechanism of the mammalian sodium/proton exchanger NHE9., [RefSeq, PubMed]; This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [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": 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": 3, "reported_glycation": 0, "reported_snv": 20, "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": "A6NMQ9;Q3LIC2;Q5JPI6;Q5WA58;Q8NAB9", "ec_number_list": "1.1.1.30;1.1.1.104", "go_molecular_function": "GO:0015385 sodium:proton antiporter activity;GO:0015386 potassium:proton antiporter activity", "go_cellular_component": "GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0055037 recycling endosome;GO:0031902 late endosome membrane;GO:0030670 phagocytic vesicle membrane", "go_biological_process": "GO:0090382 phagosome maturation;GO:0042742 defense response to bacterium;GO:0035725 sodium ion transmembrane transport;GO:0051453 regulation of intracellular pH;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q8IVB4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92186-1", "uniprot_id": "SIA8B_HUMAN", "mass": 42430.0, "length": 375, "protein_name": "Alpha-2,8-sialyltransferase 8B", "gene_name": "ST8SIA2", "organism": "Human", "refseq_name": "alpha-2,8-sialyltransferase 8B isoform 1 precursor", "refseq_ac": "NP_006002", "gene_names_uniprotkb": "ST8SIA2; SIAT8B; STX", "gene_names_refseq": "HsT19690; SIAT8-B; SIAT8B; ST8SIA-II; ST8SIA2; ST8SiaII; STX", "protein_names_uniprotkb": "Alpha-2,8-sialyltransferase 8B; 2.4.3.-; SIAT8-B; ST8SiaII; STX; Sialyltransferase 8B; Sialyltransferase St8Sia II; Sialyltransferase X", "protein_names_refseq": "ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 2; alpha-2,8-sialyltransferase 8B 1; alpha-2,8-sialyltransferase 8B isoform 1 precursor; sialyltransferase 8 (alpha-2, 8-sialytransferase) B; sialyltransferase 8B; sialyltransferase St8Sia II; sialyltransferase X", "tax_id": 9606, "disease": "", "pathway": " (hsa:8128); (R-HSA-4085001); (R-HSA-419037); (R-HSA-975577)", "pathway_count": 4, "publication_count": 93, "publication_id_list": "10.1101/2023.09.13.557529;10191093;10206952;10330343;10334995;10395745;10405317;10431835;10504389;10536037;10570912;10581036;10700233;10742600;10749855;10766765;10861246;10947946;11062056;11237011;11279095;11421344;11425186;11528398;11530204;11588157;11602804;11744634;11751519;11901181;11916006;12097641;12177386;12235148;12473780;12603328;12668675;12743242;12765789;14962670;15136692;15213228;15501818;15576474;15939404;16147865;16237198;16267048;16434023;16924681;17006639;17021253;17123352;1714903;17488527;1756715;18059411;18632803;18931531;19403558;19797320;20117844;21081508;22692205;23371026;26992070;2809592;28810663;29215920;29353880;30978569;3136930;34544457;38103644;7252518;7559389;8027041;8262246;8333853;8591035;8611500;8631981;8920913;8985184;9010752;9054414;9199191;9398268;9597550;9774483;9822625;9826427;9852130", "class_list": "glycogene;glycosyltransferase", "function": "8 SNPs of ST8SIA2 and 2 SNPs of NCAM1 are associated with seasonality in mood changes and circadian preference, [RefSeq, PubMed]; A cancer-unique glycan: de-N-acetyl polysialic acid (dPSA) linked to cell surface nucleolin depends on re-expression of the fetal polysialyltransferase ST8SIA2 gene. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the transfer of a sialic acid from a CMP-linked sialic acid donor onto a terminal alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid of an N-linked glycan acceptor through alpha-2,8-linkages (Probable) (PubMed:10766765, PubMed:11744634, PubMed:9054414, PubMed:9774483). Therefore, participates in polysialic acid synthesis on various sialylated N-acetyllactosaminyl oligosaccharides (alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid), including NCAM1, NCAM1 N-glycans, FETUB N-glycans, and to a lesser extent sialylparagloboside (SPG) and AHSG, which does not require the initial addition of an alpha 2,8-sialic acid (Probable) (PubMed:7559389). However, does not exhibit sialic acid-polymerase activity (By similarity). Catalyzes polysialic acid synthesis in the hippocampal on NCAM1 and supports neurite outgrowth (PubMed:9054414). ST8SIA2-mediated polysialylation influences on oligodendrocyte differentiation and may promote the integrity of myelin and axons (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; High ST8SIA2 expression is associated with lung cancer Invasion., [RefSeq, PubMed]; Identification of a buried beta-strand as a novel disease-related motif in the human polysialyltransferases., [RefSeq, PubMed]; The ST8SIA2 risk haplotype copy number did not show any differential effects on white matter in schizophrenia. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29. [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": 1, "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": 7, "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": 445, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q4VAZ0;Q92470;Q92746", "ec_number_list": "2.4.99.-;2.4.3.-;2.4.3.8", "go_molecular_function": "GO:0003828 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity;GO:0000166 nucleotide binding;GO:0033691 sialic acid binding;GO:0008373 sialyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0036211 protein modification process;GO:0007399 nervous system development;GO:0005975 carbohydrate metabolic process;GO:0009101 glycoprotein biosynthetic process;GO:0042220 response to cocaine", "synthesized_glycan_count": 21, "hit_score": 10.1, "record_id": "Q92186-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15078-1", "uniprot_id": "CE290_HUMAN", "mass": 290386.0, "length": 2479, "protein_name": "Centrosomal protein of 290 kDa", "gene_name": "CEP290", "organism": "Human", "refseq_name": "centrosomal protein of 290 kDa", "refseq_ac": "NP_079390", "gene_names_uniprotkb": "CEP290; BBS14; KIAA0373; NPHP6", "gene_names_refseq": "3H11Ag; BBS14; CEP290; CT87; JBTS5; LCA10; MKS4; NPHP6; POC3; SLSN6; rd16", "protein_names_uniprotkb": "Centrosomal protein of 290 kDa; Bardet-Biedl syndrome 14 protein; CT87; Cancer/testis antigen 87; Cep290; Nephrocystin-6; Tumor antigen se2-2", "protein_names_refseq": "Bardet-Biedl syndrome 14 protein; CTCL tumor antigen se2-2; Meckel syndrome, type 4; POC3 centriolar protein homolog; cancer/testis antigen 87; centrosomal protein 290kDa; centrosomal protein of 290 kDa; monoclonal antibody 3H11 antigen; nephrocytsin-6; prostate cancer antigen T21", "tax_id": 9606, "disease": "visceral heterotaxy (Disease Ontology:DOID:0050545); Senior-Loken syndrome (Disease Ontology:DOID:0050576); ciliopathy (Disease Ontology:DOID:0060340); Senior-Loken syndrome 6 (Disease Ontology:DOID:0061280); Meckel syndrome 4 (Disease Ontology:DOID:0070118); Bardet-Biedl syndrome 14 (Disease Ontology:DOID:0110136); Leber congenital amaurosis 10 (Disease Ontology:DOID:0110291); Joubert syndrome 5 (Disease Ontology:DOID:0111000); Leber congenital amaurosis (Disease Ontology:DOID:14791); cystic kidney disease (Disease Ontology:DOID:2975); kidney disease (Disease Ontology:DOID:557); retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:80184); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-6798695); (R-HSA-8854518)", "pathway_count": 9, "publication_count": 150, "publication_id_list": "11076968;11149944;11237011;11956313;12207013;12221128;12364337;12852856;13678582;14580337;14654843;15498487;15705883;16357211;16462731;16682970;16682973;16890155;16909394;17081983;17564967;17564974;17574030;17617513;17646400;17705300;17719545;18037885;18327255;18378770;18477460;18521620;18566290;18615013;18694559;18723859;18801063;18950740;19004860;19081074;19664995;19940019;20068231;20200501;20230748;20308558;20399632;20558667;20683928;21273506;21347367;21422230;21493627;21548880;21565611;21602930;21620453;21725307;21792235;22094468;22179047;22365832;22425360;22433857;22544926;22641346;22653444;22797915;22863007;22940612;23141531;23141541;23253480;23348840;23400999;23446637;23481700;23530209;23644468;23650620;23747070;23769972;23789104;23921553;23943788;24051377;24053599;24089205;24121310;24231678;24421332;24469809;24715725;24816561;24982133;25047611;25313408;25532896;25552655;25645385;26166481;26477546;26992070;27920218;28235840;28514659;28832583;28834231;28904123;29242379;29557506;29632046;29769354;30315122;31217245;31411728;31530632;31844290;32157095;32161166;32350084;32357974;32387766;32453716;32502341;32938616;33141586;33298915;33402344;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34196201;34357683;34509645;34932366;35051231;35251023;36010968;36495011;39894887;7769006;7790358;8692836;8838651", "class_list": "", "function": "Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA[CEP290] patients., [RefSeq, PubMed]; Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1 (PubMed:24421332). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity). Required for efficient recruitment of RAB8A to primary cilium (PubMed:17705300). In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5 (PubMed:25552655). Activates ATF4-mediated transcription (PubMed:16682973)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of 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": 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": 12, "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": "Q1PSK5;Q66GS8;Q9H2G6;Q9H6Q7;Q9H8I0", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0015031 protein transport;GO:0090316 positive regulation of intracellular protein transport;GO:0001822 kidney development;GO:0097711 ciliary basal body-plasma membrane docking;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "O15078-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WVK7-1", "uniprot_id": "SKA2_HUMAN", "mass": 14188.0, "length": 121, "protein_name": "Spindle and kinetochore-associated protein 2", "gene_name": "SKA2", "organism": "Human", "refseq_name": "spindle and kinetochore-associated protein 2 isoform 2", "refseq_ac": "NP_001094065", "gene_names_uniprotkb": "SKA2; FAM33A", "gene_names_refseq": "FAM33A; SKA2", "protein_names_uniprotkb": "Spindle and kinetochore-associated protein 2; Protein FAM33A", "protein_names_refseq": "family with sequence similarity 33, member A; spindle and KT (kinetochore) associated 2; spindle and kinetochore-associated protein 2 isoform 2; spindle and kinetochore-associated protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:348235); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 8, "publication_count": 137, "publication_id_list": "10411507;10600384;10678165;10958683;11081627;11181178;11237011;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12679384;12732141;12805219;12852857;14730319;15006353;15085137;15339662;15507212;15723797;15737063;15864301;15866170;15944396;16292343;16439214;16541025;16622419;16622420;16682347;16890222;16943183;17030981;17093495;17112726;17113138;17129783;17196341;17198702;1737036;18001770;18097444;18583474;18691976;18716626;18923426;19007248;19289083;19350017;19413330;19696148;19815554;19965387;20030946;20101212;20470754;20591975;21111234;21148482;21397845;21576392;21868368;21878504;21987589;22094460;22275430;22608513;22790947;22885700;23085020;23186163;23222643;23801653;24714562;24914801;25576301;25740311;25789526;25892735;26154972;26375851;26728094;26992070;27846572;27920218;28063628;28228285;28832583;29242379;29393594;29508533;29557506;29632046;29769354;29786170;30315122;30779550;30833945;31222486;31409757;31530632;31844290;31848261;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33592498;33691108;33717175;33936100;33968037;33981976;34045512;34185709;34260926;34357683;34932366;36010968;36241641;36284347;36581221;37204142;37845495;38528004;39894887;9649308;9649503;9892021", "class_list": "", "function": "Blocking of miR-301 in A549 cells leads to a decrease in the expression of the host gene, ska2., [RefSeq, PubMed]; Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation (PubMed:17093495, PubMed:19289083, PubMed:23085020). Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint (PubMed:17093495). The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies (PubMed:19289083). The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner (PubMed:17093495, PubMed:19289083). In the complex, it is required for SKA1 localization (PubMed:19289083). Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules (PubMed:23085020)., [UniProtKB, PubMed, PubMed, PubMed]; Decreased mononuclear cell NR3C1 SKA2 and FKPB5 expression levels among adult survivors of suicide bombing terror attacks in childhood are associated with the development of PTSD., [RefSeq, PubMed]; SKA2 regulated hyperactive secretory autophagy drives neuroinflammation-induced neurodegeneration. Publication Status: Online-Only, [RefSeq, PubMed]; Study discovered that FAM33A is protein partners for GRs and is involved in cell proliferation and GC signalling., [RefSeq, PubMed]; The rs7208505 Polymorphism and Differential Expression of the SKA2 Gene in the Prefrontal Cortex of Suicide Victims from the Mexican Population., [RefSeq, PubMed]; These data suggest that the Ska1/Ska2 complex plays a critical role in the maintenance of the metaphase plate and/or spindle checkpoint silencing., [RefSeq, PubMed]; Transcript levels of spindle and kinetochore-associated complex 1/3 as prognostic biomarkers correlated with immune infiltrates 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": 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": "A6NIL3;B3KPL3;E9PCB8", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005829 cytosol;GO:0000776 kinetochore;GO:0005876 spindle microtubule;GO:0072687 meiotic spindle;GO:0000940 outer kinetochore", "go_biological_process": "GO:0031110 regulation of microtubule polymerization or depolymerization;GO:0051315 attachment of mitotic spindle microtubules to kinetochore;GO:0000278 mitotic cell cycle;GO:0007059 chromosome segregation;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "Q8WVK7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5W8-1", "uniprot_id": "SNX13_HUMAN", "mass": 112189.0, "length": 968, "protein_name": "Sorting nexin-13", "gene_name": "SNX13", "organism": "Human", "refseq_name": "sorting nexin-13 isoform b", "refseq_ac": "NP_055947", "gene_names_uniprotkb": "SNX13; KIAA0713", "gene_names_refseq": "RGS-PX1; SNX13", "protein_names_uniprotkb": "Sorting nexin-13; RGS domain- and PHOX domain-containing protein; RGS-PX1", "protein_names_refseq": "rgs domain- and phox domain-containing protein; sorting nexin-13 isoform b", "tax_id": 9606, "disease": "autosomal recessive spinocerebellar ataxia 20 (Disease Ontology:DOID:0080066)", "pathway": " (hsa:23161)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11237011;11485546;11729322;14759258;24714562;25576301;25645385;26992070;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29351928;29437277;29493099;29508533;29557506;30315122;30429286;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33592498;33968037;33981976;34171305;34357683;34509645;34936700;35051231;35561310;35580925;36241641;36284347;37938771", "class_list": "", "function": "CRISPR screens for lipid regulators reveal a role for ER-bound SNX13 in lysosomal cholesterol export., [RefSeq, PubMed]; May be involved in several stages of intracellular trafficking. May play a role in endosome homeostasis (By similarity). Acts as a GAP for Galphas., [UniProtKB, PubMed]; This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. The RGS domain of this protein interacts with G alpha(s), accelerates its GTP hydrolysis, and attenuates G alpha(s)-mediated signaling. Overexpression of this protein delayes lysosomal degradation of the epidermal growth factor receptor. Because of its bifunctional role, this protein may link heterotrimeric G protein signaling and vesicular trafficking. [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": 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": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RCI9;O94821;Q8WVZ2;Q8WXH8", "ec_number_list": "", "go_molecular_function": "GO:0032266 phosphatidylinositol-3-phosphate binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005769 early endosome;GO:0031901 early endosome membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0043547 positive regulation of GTPase activity;GO:0009968 negative regulation of signal transduction;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9Y5W8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96RL6-1", "uniprot_id": "SIG11_HUMAN", "mass": 75795.0, "length": 698, "protein_name": "Sialic acid-binding Ig-like lectin 11", "gene_name": "SIGLEC11", "organism": "Human", "refseq_name": "sialic acid-binding Ig-like lectin 11 isoform 2 precursor", "refseq_ac": "NP_001128635", "gene_names_uniprotkb": "SIGLEC11; PRO28718", "gene_names_refseq": "SIGLEC11", "protein_names_uniprotkb": "Sialic acid-binding Ig-like lectin 11; Sialic acid-binding lectin 11; Siglec-11", "protein_names_refseq": "sialic acid-binding Ig-like lectin 11 isoform 2 precursor; siglec-11", "tax_id": 9606, "disease": "", "pathway": " (hsa:114132); (R-HSA-198933)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "10.1101/2023.09.13.557529;10499918;10746781;11237011;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;11986327;12213321;12483297;12588680;12975309;14719373;14970179;15034010;15057824;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16151003;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;18629938;19149696;19359216;19592130;20203208;20730098;21241660;21467073;21800138;21841309;21877119;22396535;23695528;23929856;24190977;24305946;25703557;25716998;26284469;26300885;28100677;28904123;30410026;32845322;35051231;35251023;35580925;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "glycogene", "function": "Cloning and characterization; a recently evolved signaling that can interact with SHP-1 and SHP-2 and is expressed by tissue macrophages including brain microglia, [RefSeq, PubMed]; Expressed in human but not in chimpanzee brain microglia; findings indicate that human SIGLEC11 emerged through human-specific gene conversion by an adjacent pseudogene, [RefSeq, PubMed]; Human-specific microglial Siglec-11 transcript variant has the potential to affect polysialic acid-mediated brain functions at a distance., [RefSeq, PubMed]; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,8-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, may act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules., [UniProtKB]; SIGLEC16 encodes a DAP12-associated receptor expressed in macrophages that evolved from its inhibitory counterpart SIGLEC11 and has functional and non-functional alleles in humans., [RefSeq, PubMed]; Siglec-11 ectopically expressed on murine microglia interacts with PSA on neurons, reduces LPS-induced gene transcription of proinflammatory mediators, impairs phagocytosis and alleviates microglial neurotoxicity., [RefSeq, PubMed]; The authors demonstrated that the human-specific pathogen Escherichia coli K1 uses its polysialic acid capsule as a molecular mimic to engage Siglec-11 and escape killing. In contrast, engagement of the activating counterpart Siglec-16 increases elimination of bacteria., [RefSeq, PubMed]; The results indicate potential roles for Siglec-11 in ovarian physiology and human evolution., [RefSeq, PubMed]; This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and sialic acid recognition sites in the first Ig V set domain. This family member mediates anti-inflammatory and immunosuppressive signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 6, "predicted_n_glycosites": 5, "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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1025, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0033691 sialic acid binding;GO:0019902 phosphatase binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q96RL6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14647-1", "uniprot_id": "CHD2_HUMAN", "mass": 211344.0, "length": 1828, "protein_name": "ATP-dependent chromatin remodeler CHD2", "gene_name": "CHD2", "organism": "Human", "refseq_name": "ATP-dependent chromatin remodeler CHD2 isoform 2", "refseq_ac": "NP_001036037", "gene_names_uniprotkb": "CHD2", "gene_names_refseq": "CHD2; DEE94; EEOC", "protein_names_uniprotkb": "ATP-dependent chromatin remodeler CHD2; 3.6.4.-; CHD-2; Chromo domain-containing protein 2", "protein_names_refseq": "ATP-dependent chromatin remodeler CHD2 isoform 2; ATP-dependent chromatin remodeler CHD2; ATP-dependent helicase CHD2; CHD-2; chromo domain-containing protein 2", "tax_id": 9606, "disease": "CHARGE syndrome (Disease Ontology:DOID:0050834); autism spectrum disorder (Disease Ontology:DOID:0060041); myoclonic-atonic epilepsy (Disease Ontology:DOID:0060475); developmental and epileptic encephalopathy 94 (Disease Ontology:DOID:0081325); prostate cancer (Disease Ontology:DOID:10283); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:1106); (R-HSA-9943411)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10199952;11237011;12682017;15647753;16263726;16372014;17433364;17717186;18042460;18452278;18669648;18691976;18991276;19651622;20068231;20211137;21406692;22046413;22424782;22569126;22645359;22922743;23186163;23708187;24275569;24714562;24715725;25356899;25418920;25892735;26154972;26811146;26992070;27661449;27862975;27920218;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30620550;31154438;31844290;31848261;32387766;32502341;32897882;32938616;32983136;33298915;33592498;33633747;33717175;33798445;33912179;33936100;33968037;33981976;34087483;34171305;34509645;34561969;35051231;35580925;36010968;36284347;36374958;37217939;38039841;38385826;39068850;39107278;9326634", "class_list": "", "function": "ATP-dependent chromatin-remodeling factor that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression (By similarity)., [UniProtKB]; CircCHD2/miR-200b-3p/HLF Axis Promotes Liver Cirrhosis., [RefSeq, PubMed]; Clinical analysis of five CHD2 gene mutations in Chinese children with epilepsy., [RefSeq, PubMed]; Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Publication Status: Online-Only, [RefSeq, PubMed]; Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome., [RefSeq, PubMed]; Role of CircCHD2 in the pathogenesis of gestational diabetes mellitus by regulating autophagy via miR-33b-3p/ULK1 axis., [RefSeq, PubMed]; The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct 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": 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": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 43, "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": "C6G482;Q96IP5", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;7.6.2.1;2.3.2.27;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0034728 nucleosome organization;GO:0006351 DNA-templated transcription;GO:0007517 muscle organ development;GO:0006325 chromatin organization;GO:0006338 chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "O14647-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H4I8-1", "uniprot_id": "SEHL2_HUMAN", "mass": 35369.0, "length": 314, "protein_name": "Serine hydrolase-like protein 2", "gene_name": "SERHL2", "organism": "Human", "refseq_name": "serine hydrolase-like protein 2 isoform b", "refseq_ac": "NP_001271263", "gene_names_uniprotkb": "SERHL2; SERHL", "gene_names_refseq": "SERHL2; dJ222E13.1", "protein_names_uniprotkb": "Serine hydrolase-like protein 2; 3.1.-.-", "protein_names_refseq": "serine hydrolase-like protein 2 isoform b; serine hydrolase-like protein 2; testis secretory sperm-binding protein Li 216e", "tax_id": 9606, "disease": "", "pathway": " (hsa:253190)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;18477386;20877624;26992070;28834231;29242379;29786170;30429286;32157095;32502341;32938616;33912179;33936100;33968037;35051231;35580925;37938771", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Probable serine hydrolase. May be related to cell muscle hypertrophy., [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": "B1AHE9;B1AHF0;Q0VDJ1;Q5H973;Q9BR29;Q9BR30;Q9Y3I9", "ec_number_list": "", "go_molecular_function": "GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005777 peroxisome;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9H4I8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86TU7-1", "uniprot_id": "SETD3_HUMAN", "mass": 67257.0, "length": 594, "protein_name": "Actin-histidine N-methyltransferase", "gene_name": "SETD3", "organism": "Human", "refseq_name": "actin-histidine N-methyltransferase isoform a", "refseq_ac": "NP_115609", "gene_names_uniprotkb": "SETD3; C14orf154", "gene_names_refseq": "C14orf154; SETD3; hSETD3", "protein_names_uniprotkb": "Actin-histidine N-methyltransferase; 2.1.1.85; Protein-L-histidine N-tele-methyltransferase; SET domain-containing protein 3; hSETD3", "protein_names_refseq": "SET domain containing 3, actin histidine methyltransferase; SET domain-containing protein 3; actin-histidine N-methyltransferase isoform a; actin-histidine N-methyltransferase; histone-lysine N-methyltransferase setd3; protein-L-histidine N-tele-methyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:84193); (R-HSA-3214841)", "pathway_count": 2, "publication_count": 118, "publication_id_list": "10949293;11237011;11959841;12123582;12130538;12453418;12540855;12670868;14536086;14690610;14992727;15145825;15235609;15964846;16094384;16118227;16199523;16292313;16519522;16682010;16805913;17021013;17500065;17544230;17707229;18172012;18669648;19808676;21131967;21196496;21779408;21832073;22099308;22898188;22939622;23186163;24715725;24958902;25418920;25576301;26030842;26154972;26488939;26811146;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28442573;28510447;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30429286;30484775;30526847;30626964;30779550;30785395;30833945;31154438;31217245;31388018;31530632;31844290;31911441;31993215;32157095;32357974;32387766;32488085;32502341;32503840;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36503048;37581408;37938771;38755176;39299385;39488591", "class_list": "", "function": "CircSETD3 mediates acquired resistance to gefitinib in non-small lung cancer cells by FXR1/ECT2 pathway., [RefSeq, PubMed]; Examining prestructured beta-actin peptides as substrates of histidine methyltransferase SETD3. Publication Status: Online-Only, [RefSeq, PubMed]; MAF1, RNF7 and SETD3 are identified as PCNA-associated proteins in human cells and given this interaction with PCNA, Maf1, RNF7, and SetD3 are potentially involved in DNA replication, DNA repair, or associated processes., [RefSeq, PubMed]; Protein-histidine N-methyltransferase that specifically mediates 3-methylhistidine (tele-methylhistidine) methylation of actin at 'His-73' (PubMed:30526847, PubMed:30626964, PubMed:30785395, PubMed:31388018, PubMed:31993215). Histidine methylation of actin is required for smooth muscle contraction of the laboring uterus during delivery (PubMed:30626964). Does not have protein-lysine N-methyltransferase activity and probably only catalyzes histidine methylation of actin (PubMed:30626964, PubMed:30785395, PubMed:31388018)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Results show that high expression levels of SMYD2, SETD3, and NO66 in renal cell tumors. Their low expression levels were significantly associated with shorter disease-specific and disease-free survival., [RefSeq, PubMed]; SETD3 functions beyond histidine methylation. Review article, [RefSeq, PubMed]; The EV71 2A protease occupies the central cleft of SETD3 and disrupts SETD3-actin interaction. Publication Status: Online-Only, [RefSeq, PubMed]; The Role of Trp79 in beta-Actin on Histidine Methyltransferase SETD3 Catalysis., [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": 14, "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": "A0PJU3;A5PLP0;B4DZE8;Q0VAQ2;Q659C0;Q86TU8;Q96GY9;Q9H5U5", "ec_number_list": "2.1.1.364;2.1.1.85;2.1.1.-;2.1.1.370;2.1.1.371;2.1.1.354", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003779 actin binding;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding;GO:0042800 histone H3K4 methyltransferase activity;GO:0046975 histone H3K36 methyltransferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0030047 actin modification;GO:0070472 regulation of uterine smooth muscle contraction;GO:0018021 peptidyl-histidine methylation", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "Q86TU7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95749-1", "uniprot_id": "GGPPS_HUMAN", "mass": 34871.0, "length": 300, "protein_name": "Geranylgeranyl pyrophosphate synthase", "gene_name": "GGPS1", "organism": "Human", "refseq_name": "geranylgeranyl pyrophosphate synthase isoform A", "refseq_ac": "NP_001032354", "gene_names_uniprotkb": "GGPS1", "gene_names_refseq": "GGPPS1; GGPPS; GGPS1; MDHLO; MUDHLOV", "protein_names_uniprotkb": "Geranylgeranyl pyrophosphate synthase; (2E,6E)-farnesyl diphosphate synthase; 2.5.1.-; 2.5.1.10; 2.5.1.1; 2.5.1.29; Dimethylallyltranstransferase; Farnesyl diphosphate synthase; Farnesyltranstransferase; GGPP synthase; GGPPSase; Geranylgeranyl diphosphate synthase; Geranyltranstransferase", "protein_names_refseq": "(2E,6E)-farnesyl diphosphate synthase; GGPP synthase; GGPPSase; dimethylallyltranstransferase; farnesyl diphosphate synthase; farnesyltranstransferase; geranylgeranyl pyrophosphate synthase isoform A; geranylgeranyl pyrophosphate synthase; geranyltranstransferase", "tax_id": 9606, "disease": "muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome (MONDO:MONDO:0859189)", "pathway": " (hsa:9453); (R-HSA-2426168); (R-HSA-9969896)", "pathway_count": 3, "publication_count": 113, "publication_id_list": "10026212;10101267;10400691;10620343;10666321;10759542;10896663;10931946;11160603;11237011;11414710;12083769;12177166;12764144;1377680;14729858;14730012;14766201;16464866;16519518;16684881;16698791;17449569;17925399;18327899;18559965;18654640;18682402;18726356;18937434;1968462;20138239;20394422;20450493;20719759;20937905;21420384;22634312;23783831;24714562;25645385;25892735;26375851;26728094;26992070;27862975;28218747;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29769354;29786170;30315122;30410026;30779550;30833945;31217245;31222486;31844290;31848261;32157095;32357974;32387766;32403198;32502341;32897882;32938616;32983136;33246356;33587247;33633747;33717175;33912179;33968037;34087483;34171305;34357683;35051231;35334098;35869884;36010968;36284347;36581221;36650113;5918048;7567999;7592729;7732023;7909540;7911016;7913309;8020941;8419360;8593458;8619637;8626466;8626488;8647822;8663599;8798690;8806705;8976377;9099716;9380443;9604010;9634533;9741684;9748295", "class_list": "", "function": "Catalyzes the trans-addition of the three molecules of IPP onto DMAPP to form geranylgeranyl pyrophosphate, an important precursor of carotenoids and geranylated proteins., [UniProtKB, PubMed]; Evidence for a non-membrane bound isoform of geranylgeranyl diphosphate synthase 1 in rat., [RefSeq, PubMed]; GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome., [RefSeq, PubMed]; GGPS1-associated muscular dystrophy with and without hearing loss., [RefSeq, PubMed]; Geranylgeranyl diphosphate synthase: Role in human health, disease and potential therapeutic target. Review article, [RefSeq, PubMed]; Knockout of GGPPS1 restrains rab37-mediated autophagy in response to ventilator-induced lung injury., [RefSeq, PubMed]; The Genetics of Atypical Femur Fractures-a Systematic Review., [RefSeq, PubMed]; This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transcriptional splice variants, both protein-coding and non-protein-coding, have been found for this gene. [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": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A8MVQ8;Q5T2C8;Q6NW19", "ec_number_list": "2.5.1.1;2.5.1.10;2.5.1.29;2.5.1.-", "go_molecular_function": "GO:0004161 dimethylallyltranstransferase activity;GO:0004337 (2E,6E)-farnesyl diphosphate synthase activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0004311 geranylgeranyl diphosphate synthase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0030018 Z disc", "go_biological_process": "GO:0033384 geranyl diphosphate biosynthetic process;GO:0045337 farnesyl diphosphate biosynthetic process;GO:0006720 isoprenoid metabolic process;GO:0033386 geranylgeranyl diphosphate biosynthetic process;GO:0008299 isoprenoid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "O95749-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6AZW8-1", "uniprot_id": "ZN660_HUMAN", "mass": 38270.0, "length": 331, "protein_name": "Zinc finger protein 660", "gene_name": "ZNF660", "organism": "Human", "refseq_name": "zinc finger protein 660", "refseq_ac": "NP_775929", "gene_names_uniprotkb": "ZNF660", "gene_names_refseq": "ZNF660", "protein_names_uniprotkb": "Zinc finger protein 660", "protein_names_refseq": "zinc finger protein 660", "tax_id": 9606, "disease": "", "pathway": " (hsa:285349); (R-HSA-212436)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;21406692;2163759;26992070;28514659;29465788;30379171;8183939;8769649;9637681;9653119", "class_list": "", "function": "Biomarker potential of ST6GALNAC3 and ZNF660 promoter hypermethylation in prostate cancer tissue and liquid biopsies, [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; This gene encodes a protein that contains multiple C2H2 zinc finger domains, and is located in a cluster of zinc-finger encoding genes on chromosome 3. Naturally-occurring readthrough transcription is observed between this gene and the downstream zinc finger protein 197 gene and is represented by GeneID:110354863. [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": 1, "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": "Q7Z331;Q8N9M8", "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:1990837 sequence-specific double-stranded 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": 2.2, "record_id": "Q6AZW8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13277-1", "uniprot_id": "STX3_HUMAN", "mass": 33155.0, "length": 289, "protein_name": "Syntaxin-3", "gene_name": "STX3", "organism": "Human", "refseq_name": "syntaxin-3 isoform 2", "refseq_ac": "NP_001171511", "gene_names_uniprotkb": "STX3; STX3A", "gene_names_refseq": "DIAR12; MVID2; RDMVID; STX3A; STX3", "protein_names_uniprotkb": "Syntaxin-3", "protein_names_refseq": "syntaxin 3A; syntaxin 3B; syntaxin-3 isoform 2", "tax_id": 9606, "disease": "congenital diarrhea (Disease Ontology:DOID:0060774); diarrhea 12, with microvillus atrophy (MONDO:MONDO:0030335); retinal dystrophy and microvillus inclusion disease (MONDO:MONDO:0859170)", "pathway": " (hsa:6809); (R-HSA-449836)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10080545;10395686;10438516;11237011;12469119;12558796;16488976;16492764;18467591;2147944;21716315;23291588;23744080;24726755;25358429;25662098;26095744;26936588;28832583;29242379;29282386;29393594;29475951;31844290;32157095;32350084;32387766;32938616;33974130;34357683;35051231;35251023;38014487;7615501;7805849;9378770;9422780", "class_list": "", "function": "Essential for survival of retinal photoreceetors., [UniProtKB, PubMed]; Functions as a regulator of gene expression., [UniProtKB, PubMed]; Increased STX3 transcript and protein levels were associated with poor prognosis in two independent cohorts of esophageal squamous cell carcinoma patients., [RefSeq, PubMed]; Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects., [RefSeq, PubMed]; Potentially involved in docking of synaptic vesicles at presynaptic active zones. Apical receptor involved in membrane fusion of apical vesicles., [UniProtKB, PubMed]; The gene is a member of the syntaxin family. The encoded protein is targeted to the apical membrane of epithelial cells where it forms clusters and is important in establishing and maintaining polarity necessary for protein trafficking involving vesicle fusion and exocytosis. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4DME0;O43750;O43751;Q15360", "ec_number_list": "", "go_molecular_function": "GO:0000149 SNARE binding;GO:0050544 arachidonate binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0030027 lamellipodium", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0008284 positive regulation of cell population proliferation;GO:0031175 neuron projection development;GO:0045785 positive regulation of cell adhesion;GO:2000010 positive regulation of protein localization to cell surface", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q13277-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRH2-1", "uniprot_id": "SNRK_HUMAN", "mass": 84276.0, "length": 765, "protein_name": "SNF-related serine/threonine-protein kinase", "gene_name": "SNRK", "organism": "Human", "refseq_name": "SNF-related serine/threonine-protein kinase isoform 1", "refseq_ac": "NP_001094064", "gene_names_uniprotkb": "SNRK; KIAA0096; SNFRK", "gene_names_refseq": "HSNFRK; SNRK", "protein_names_uniprotkb": "SNF-related serine/threonine-protein kinase; 2.7.11.1; SNF1-related kinase", "protein_names_refseq": "SNF-1 related kinase; SNF-related serine/threonine-protein kinase isoform 1; SNF-related serine/threonine-protein kinase; SNF1-related kinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:54861)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "11237011;12234663;15733851;17344846;19413330;19690332;20068231;20112406;23186163;25576301;26154972;26992070;27397612;27600516;27780848;27846572;27862975;27869121;28063628;28117339;28228285;28722495;28832583;28834231;28904123;29061304;29242379;29393594;29493099;29557506;29632046;29632711;29786170;29789417;30315122;30379171;30429286;31217245;31844290;31848261;31998317;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33537174;33912179;33968037;33981976;34087483;34171305;34185709;34357683;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;36640195;37217939;37938771;38253038;8654423", "class_list": "", "function": "Differential expression of SNRK in early versus late stage disease suggests specific roles for SNRK in ovarian cancer metastasis., [RefSeq, PubMed]; Human bone marrow mesenchymal stem cell-derived extracellular vesicles reduce inflammation and pyroptosis in acute kidney injury via miR-223-3p/HDAC2/SNRK., [RefSeq, PubMed]; May play a role in hematopoietic cell proliferation or differentiation. Potential mediator of neuronal apoptosis., [UniProtKB, UniProtKB, PubMed, PubMed]; Report the crystal structure of an N-terminal SNRK fragment containing kinase and adjacent ubiquitin-associated (UBA) domains. This structure shows that the UBA domain binds between the N- and C-lobes of the kinase domain. The mode of UBA binding in SNRK largely resembles that in AMPK and brain specific kinase (BRSK), however, unique interactions play vital roles in stabilizing the KD-UBA interface of SNRK., [RefSeq, PubMed]; SNRK in cardiomyocytes is responsible for maintaining cardiac metabolic homeostasis, which is mediated in part by ROCK, and alteration of this homeostasis influences cardiac function in the adult heart., [RefSeq, PubMed]; SNRK is a member of the sucrose nonfermenting (SNF)-related kinase family of serine/threonine kinases (Kertesz et al., 2002 [PubMed 12234663]).[supplied by OMIM, Apr 2009]., [RefSeq]; Study shows that TRIB3 binds to SNRK, and downregulates UCP3 through PPARalpha. SNRK is increased in cardiomyopathy patients, and SNRK reduces infarct size after ischaemia/reperfusion. SNRK also decreases cardiac cell death in a UCP3-dependent manner. Erratum:[Nat Commun. 2017 Aug 30;8:16155. doi: 10.1038/ncomms16155. PMID: 28853433] 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": 9, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 15, "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": "B2RAV6;Q14706;Q68D15;Q6IQ46;Q9NXI7", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "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:0005634 nucleus;GO:0005819 spindle", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0030099 myeloid cell differentiation;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9NRH2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43861-1", "uniprot_id": "ATP9B_HUMAN", "mass": 129304.0, "length": 1147, "protein_name": "Probable phospholipid-transporting ATPase IIB", "gene_name": "ATP9B", "organism": "Human", "refseq_name": "probable phospholipid-transporting ATPase IIB isoform 2", "refseq_ac": "NP_001293014", "gene_names_uniprotkb": "ATP9B; ATPIIB; HUSSY-20; NEO1L", "gene_names_refseq": "ATP9B; ATPASEP; ATPIIB; HUSSY-20; NEO1L; hMMR1", "protein_names_uniprotkb": "Probable phospholipid-transporting ATPase IIB; 7.6.2.1; ATPase class II type 9B", "protein_names_refseq": "ATPase phospholipid transporting 9B (putative); ATPase type IV, phospholipid transporting (P-type); ATPase, class II, type 9B; macrophage MHC receptor 1; probable phospholipid-transporting ATPase IIB isoform 2; probable phospholipid-transporting ATPase IIB", "tax_id": 9606, "disease": "", "pathway": " (hsa:374868); (R-HSA-936837)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10401004;10484781;10615129;10767338;11124703;11237011;15831496;15919184;15925480;16182249;1656976;16700898;18723824;19345671;19878721;19901323;2160952;21914794;22186024;22525042;23196729;23481700;24366607;24392018;25418920;25502872;26992070;27067231;27600516;27846572;27920218;28228285;28467828;28514659;28834231;28904123;29242379;29314611;29331515;29557506;29769354;30315122;30429286;31020640;31844290;32157095;32350084;32357974;32387766;32488085;32938616;32983136;33141586;33537174;33936100;33968037;33981976;34078123;34185709;34211107;34357683;34509645;34561969;34932366;35051231;35154160;35580925;36010968;36284347;37938771;6832622;7626145;8045293;8298639;8490646;8490659;9147644;9307043;9548971", "class_list": "", "function": "These results revealed that human human macrophage MHC receptor 1 on monocytes is a novel receptor specific for HLA-B44., [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": 12, "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": "O60872;Q08AD8;Q08AD9", "ec_number_list": "7.6.2.1", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0140326 ATPase-coupled intramembrane lipid transporter activity;GO:0000166 nucleotide binding", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0005802 trans-Golgi network;GO:0016020 membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0045332 phospholipid translocation;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "O43861-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IYB5-1", "uniprot_id": "SMAP1_HUMAN", "mass": 50386.0, "length": 467, "protein_name": "Stromal membrane-associated protein 1", "gene_name": "SMAP1", "organism": "Human", "refseq_name": "stromal membrane-associated protein 1 isoform A", "refseq_ac": "NP_001037770", "gene_names_uniprotkb": "SMAP1", "gene_names_refseq": "SMAP-1; SMAP1", "protein_names_uniprotkb": "Stromal membrane-associated protein 1", "protein_names_refseq": "stromal membrane-associated GTPase-activating protein 1; stromal membrane-associated protein 1 isoform A", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:60682)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;12119110;15659652;20068231;22645359;23752192;25281535;25576301;26024233;26992070;27846572;28011674;28063628;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29485866;29557506;29632046;30315122;30429286;30779550;30833945;31530632;31844290;31848261;32157095;32387766;32488085;32897882;32983136;33123756;33141586;33214551;33912179;33968037;34019948;34087483;34171305;34725712;34932366;35051231;35138101;35318648;35561310;35580925;36010968;36284347;36494580;36581221;38665916", "class_list": "", "function": "GTPase activating protein that acts on ARF6. Plays a role in clathrin-dependent endocytosis. May play a role in erythropoiesis (By similarity)., [UniProtKB]; Pals1 functions in redundancy with SMAP1 to inhibit Arf6 in order to prevent Rac1-dependent colorectal cancer cell migration and invasion., [RefSeq, PubMed]; Results also demonstrated a physical association between SMAP1 and SMAP2, which might serve as a basis for a functional interaction, and identified the intramolecular domains responsible for this association, [RefSeq, PubMed]; SMAP1 loss-of-function mutations in microsatellite instability colorectal cancer may contribute to the emerging oncogenic pathway involving abnormal Arf6 regulation., [RefSeq, PubMed]; SMAP1 may be an ADP-ribosylation factor 6 (Arf6)GAP that specifically regulates one of the multiple functions of Arf6, namely, clathrin-dependent endocytosis, [RefSeq, PubMed]; The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; The study identified a region on chromosome 6 comprising the genes SMAP1, B3GAT2, and RIMS1 as novel susceptibility locus for pediatric venous thromboembolism., [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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "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": "Q53H70;Q5SYQ2;Q6PK24;Q8NDH4;Q96L38;Q96L39;Q9H8X4", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding;GO:0030276 clathrin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:2000369 regulation of clathrin-dependent endocytosis", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q8IYB5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86XZ4-1", "uniprot_id": "SPAS2_HUMAN", "mass": 59545.0, "length": 545, "protein_name": "Spermatogenesis-associated serine-rich protein 2", "gene_name": "SPATS2", "organism": "Human", "refseq_name": "spermatogenesis-associated serine-rich protein 2", "refseq_ac": "NP_001280214", "gene_names_uniprotkb": "SPATS2; Nbla00526; SCR59; SPATA10", "gene_names_refseq": "Nbla00526; P59SCR; SCR59; SPATA10; SPATS2", "protein_names_uniprotkb": "Spermatogenesis-associated serine-rich protein 2; Serine-rich spermatocytes and round spermatid 59 kDa protein; p59scr", "protein_names_refseq": "putative protein product of Nbla00526; serine-rich spermatocytes and round spermatid 59 kDa protein; serine-rich spermatocytes and round spermatid protein; spermatogenesis-associated serine-rich protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:65244)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12880961;18491316;18669648;19690332;20068231;23301498;23481700;24714562;24715725;25505266;25576301;26154972;26728094;26758079;26811146;26992070;27600516;28218747;28510447;28832583;28834231;28904123;29242379;29393594;29437277;29485866;29508533;29632046;29786170;29930882;30410026;30620550;31373491;31844290;32118724;32157095;32357974;32502341;32938616;33037180;33298915;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34357683;34405274;34561969;34932366;35051231;35077478;35580925;36010968;36241641;36284347;36631750;40596516", "class_list": "", "function": "Gene Set Enrichment Analysis (GSEA) was used to identify signaling pathways related to SPATS2 expression. SPATS2 expression could be a novel diagnostic and prognostic biomarker in liver cancer., [RefSeq, PubMed]; SPATS2 is correlated with cell cycle progression and immune cells infiltration in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; SPATS2 is positively activated by long noncoding RNA SNHG5 via regulating DNMT3a expression to promote hepatocellular carcinoma progression. Publication Status: Online-Only, [RefSeq, PubMed]; SPATS2, negatively regulated by miR-145-5p, promotes hepatocellular carcinoma progression through regulating cell cycle. 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": 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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K8G9;Q9H7D4;Q9H8Y7;Q9H8Z8", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q86XZ4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P11309-1", "uniprot_id": "PIM1_HUMAN", "mass": 35686.0, "length": 313, "protein_name": "Serine/threonine-protein kinase pim-1", "gene_name": "PIM1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase pim-1 isoform 1", "refseq_ac": "NP_001230115", "gene_names_uniprotkb": "PIM1", "gene_names_refseq": "PIM1; PIM", "protein_names_uniprotkb": "Serine/threonine-protein kinase pim-1; 2.7.11.1", "protein_names_refseq": "Oncogene PIM1; pim-1 oncogene (proviral integration site 1); proto-oncogene serine/threonine-protein kinase pim-1; serine/threonine-protein kinase pim-1 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5292); (R-HSA-6785807); (R-HSA-9702518); (R-HSA-9703465); (R-HSA-9968551)", "pathway_count": 5, "publication_count": 222, "publication_id_list": "10023775;10219247;10369418;10469654;10510379;10586089;10664448;10698507;10867011;11027663;11058569;11084045;11090077;11104795;11120780;11278437;11278729;11356008;11404481;11460166;11463377;11960372;12223527;12242343;12431783;12468433;12473674;12600988;12680209;12796379;12832402;14634100;14712222;15003515;15116091;15261459;15498859;15525646;15528381;15584925;15657054;15798097;15805299;15808862;15869882;15950906;16007214;16048438;16107692;16186805;16205632;16236134;16356754;16397018;16451196;16510571;16540365;16606674;16627759;16684964;16761019;17268528;17344846;17356133;17427945;17458857;17572495;17764812;18056989;18192505;18243101;1825810;18353781;18447642;18593906;18644974;19124156;19185846;19345670;19397496;19438505;19749799;20111072;20493732;21072051;21102457;21252155;21262971;21689689;21705501;21730069;21937440;21994466;22046235;2205533;22205702;22267603;22383755;22411868;22438257;22564745;22693070;22851691;22898188;23086340;23103841;23124025;23168613;23172665;23186163;23455323;23555662;23967200;24097101;24743777;24854988;25121590;25234944;26308771;26515730;26716518;27256702;27543614;27600516;27666490;27795560;27862975;27869121;27920218;28028030;28218747;28228285;2837645;28514659;28649982;28751768;28832583;28834231;28855257;29025582;29242379;29331515;29393594;29493099;29507660;29508533;29557506;29632046;29632711;29786170;29789417;29880609;30192525;30315122;30370255;30429286;30484775;30524438;30552988;30559310;30779550;31066629;31359998;31548394;31844290;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33123756;33141586;3329709;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;3429489;34509645;3475233;34932366;35051231;35580925;36010968;36215666;36241641;36284347;36581221;37797010;38485819;38631036;38926951;38940430;7510216;7512451;7529288;7795521;7796300;7898939;7907877;8085155;8602263;8621622;8663118;8668165;8797861;8816495;9013879;9651359;9723655;9736340;9822675;9874564;9918857", "class_list": "", "function": "Kinase PIM1 governs ferroptosis to reduce retinal microvascular endothelial cell dysfunction triggered by high glucose., [RefSeq, PubMed]; NUP98-BPTF promotes oncogenic transformation through PIM1 upregulation., [RefSeq, PubMed]; PIM1 gene encodes two isoforms by alternative translation initiation at a non-AUG (CUG) and AUG start codons. The two isoforms differ in preferential cellular localization, and may regulate distinct substrates., [RefSeq, PubMed]; Proto-oncogene with serine/threonine kinase activity involved in cell survival and cell proliferation and thus providing a selective advantage in tumorigenesis (PubMed:15528381, PubMed:1825810, PubMed:31548394). Exerts its oncogenic activity through: the regulation of MYC transcriptional activity, the regulation of cell cycle progression and by phosphorylation and inhibition of proapoptotic proteins (BAD, MAP3K5, FOXO3) (PubMed:18593906). Phosphorylation of MYC leads to an increase of MYC protein stability and thereby an increase of transcriptional activity (By similarity). The stabilization of MYC exerted by PIM1 might explain partly the strong synergism between these two oncogenes in tumorigenesis (By similarity). Mediates survival signaling through phosphorylation of BAD, which induces release of the anti-apoptotic protein Bcl-X(L)/BCL2L1 (By similarity). Phosphorylation of MAP3K5, another proapoptotic protein, by PIM1, significantly decreases MAP3K5 kinase activity and inhibits MAP3K5-mediated phosphorylation of JNK and JNK/p38MAPK subsequently reducing caspase-3 activation and cell apoptosis (PubMed:19749799). Stimulates cell cycle progression at the G1-S and G2-M transitions by phosphorylation of CDC25A and CDC25C (PubMed:16356754). Phosphorylation of CDKN1A, a regulator of cell cycle progression at G1, results in the relocation of CDKN1A to the cytoplasm and enhanced CDKN1A protein stability (PubMed:12431783). Promotes cell cycle progression and tumorigenesis by down-regulating expression of a regulator of cell cycle progression, CDKN1B, at both transcriptional and post-translational levels (PubMed:18593906). Phosphorylation of CDKN1B, induces 14-3-3 proteins binding, nuclear export and proteasome-dependent degradation (PubMed:18593906). May affect the structure or silencing of chromatin by phosphorylating HP1 gamma/CBX3 (PubMed:10664448). Also acts as a regulator of homing and migration of bone marrow cells involving functional interaction with the CXCL12-CXCR4 signaling axis (By similarity). Acts as a positive regulator of mTORC1 signaling by mediating phosphorylation and inhibition of DEPDC5 component of the GATOR1 complex (PubMed:31548394). Acts as a negative regulator of innate immunity by mediating phosphorylation and inactivation of GBP1 in absence of infection: phosphorylation of GBP1 induces interaction with 14-3-3 protein sigma (SFN) and retention in the cytosol (PubMed:37797010). Also phosphorylates and activates the ATP-binding cassette transporter ABCG2, allowing resistance to drugs through their excretion from cells (PubMed:18056989). Promotes brown adipocyte differentiation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is expressed primarily in B-lymphoid and myeloid cell lines, and is overexpressed in hematopoietic malignancies and in prostate cancer. It plays a role in signal transduction in blood cells, contributing to both cell proliferation and survival, and thus provides a selective advantage in tumorigenesis. Both the human and orthologous mouse genes have been reported to encode two isoforms (with preferential cellular localization) resulting from the use of alternative in-frame translation initiation codons, the upstream non-AUG (CUG) and downstream AUG codons (PMIDs:16186805, 1825810).[provided by RefSeq, Aug 2011]., [RefSeq]; What doesn't fit is made to fit: Pim-1 kinase adapts to the configuration of stilbene-based inhibitors., [RefSeq, PubMed]; [Effects of PIM1 Gene on Proliferation, Apoptosis and JAK2/STAT3 Signaling Pathway of Acute Myeloid Leukemia U937 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": 6, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 22, "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": "Q38RT9;Q5T7H7;Q96RG3", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;3.6.1.-;3.6.5.-;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;2.7.11.38;2.7.11.34;3.6.-.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0030145 manganese ion binding;GO:0030296 protein tyrosine kinase activator activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0070561 vitamin D receptor signaling pathway;GO:1905062 positive regulation of cardioblast proliferation;GO:0010971 positive regulation of G2/M transition of mitotic cell cycle;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 22.5, "record_id": "P11309-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NEY3-1", "uniprot_id": "SPAT4_HUMAN", "mass": 34751.0, "length": 305, "protein_name": "Spermatogenesis-associated protein 4", "gene_name": "SPATA4", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 4", "refseq_ac": "NP_653245", "gene_names_uniprotkb": "SPATA4; TSARG2", "gene_names_refseq": "CFAP178; FAP178; SPATA4; SPEF1B; TSARG2", "protein_names_uniprotkb": "Spermatogenesis-associated protein 4; Testis and spermatogenesis cell-related protein 2; Testis spermatocyte apoptosis-related gene 2 protein", "protein_names_refseq": "spermatogenesis-associated protein 4; testis and spermatogenesis cell related protein 2; testis spermatocyte apoptosis-related gene 2 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:132851)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;12019456;15158438;16336790;21827752;26424010;31838782;33314576", "class_list": "", "function": "Analysis of SPATA4 expression and variation in promotor sequences, [RefSeq, PubMed]; Expressed in many tissues and mapped to chromosome 4q33-34.1 by database analyses, [RefSeq, PubMed]; Increased DNA methylation in the spermatogenesis-associated (SPATA) genes correlates with infertility., [RefSeq, PubMed]; May play a role in apoptosis regulation., [UniProtKB, PubMed]; Results suggest a role for SPATA4 in membrane traffic and a specialized function for TRAPP in spermatocytes., [RefSeq, PubMed]; SPATA4 improves aging-induced metabolic dysfunction through promotion of preadipocyte differentiation and adipose tissue expansion., [RefSeq, PubMed]; SPATA4 protects HeLa cells against etoposide-induced apoptosis through the mitochondrial apoptotic pathway, providing further evidence that SPATA4 plays a role in regulating apoptosis, [RefSeq, PubMed]; TSARG2 may play an important role in the development of cryptorchid testis and be a testis-specific apoptosis candidate oncogene, [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": "Q8NCS5;Q8WW15", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005930 axoneme", "go_biological_process": "GO:0051493 regulation of cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NEY3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BQ83-1", "uniprot_id": "SLX1_HUMAN", "mass": 30771.0, "length": 275, "protein_name": "Structure-specific endonuclease subunit SLX1", "gene_name": "SLX1A; SLX1B", "organism": "Human", "refseq_name": "structure-specific endonuclease subunit SLX1 isoform 1", "refseq_ac": "NP_001014999", "gene_names_uniprotkb": "SLX1A; SLX1B; GIYD1; GIYD2; SLX1", "gene_names_refseq": "GIYD1; SLX1A", "protein_names_uniprotkb": "Structure-specific endonuclease subunit SLX1; 3.1.-.-; GIY-YIG domain-containing protein 1", "protein_names_refseq": "GIY-YIG domain-containing protein 1; SLX1 homolog A, structure-specific endonuclease subunit; SLX1 structure-specific endonuclease subunit homolog A; structure-specific endonuclease subunit SLX1 isoform 1", "tax_id": 9606, "disease": "Fanconi-like syndrome (Disease Ontology:DOID:0090066)", "pathway": " (hsa:548593); (hsa:79008); (R-HSA-5693568); (R-HSA-6783310)", "pathway_count": 4, "publication_count": 110, "publication_id_list": "11237011;11239454;12686547;12721304;14527420;15358107;15572677;16916645;16943440;17289582;17412408;17460694;17938197;18082604;18174376;18931676;19111657;19561358;19589784;19595721;19596235;19596236;19995904;20102227;20347428;20347429;20385554;20603015;20603016;20603073;20670894;20671156;20965415;21464321;21701511;21764741;22258451;22287633;22396592;22424782;22510687;22645308;22692201;23325218;23481700;23509288;23698467;23723247;23754376;24076221;24366607;24371268;24389026;24509834;24623813;24715725;24726325;24831703;24905007;25418920;25430771;25500724;25576301;25645385;25892735;26154972;26758079;26992070;27058226;27354282;27397612;27600516;27846572;27920218;28228285;28832583;28904123;29242379;29393594;29493099;29557506;29608566;29632046;29786170;30315122;31154438;31530632;31844290;31848261;32161166;32265295;32357974;32387766;32488085;32502341;32601218;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33936100;33968037;34561969;35051231;35580925;36241641;37217939", "class_list": "", "function": "Catalytic subunit of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5'-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products., [UniProtKB, PubMed, PubMed, HAMAP, PubMed]; Data show that three structure-selective endonucleases, SLX1-SLX4, MUS81-EME1, and GEN1, define two pathways of Holliday junctions (HJs) resolution in HeLa cells., [RefSeq, PubMed]; Folate stress induces SLX1- and RAD51-dependent mitotic DNA synthesis at the fragile X locus in human cells., [RefSeq, PubMed]; SLX4-SLX1 Protein-independent Down-regulation of MUS81-EME1 Protein by HIV-1 Viral Protein R (Vpr)., [RefSeq, PubMed]; This gene encodes a protein that is an important regulator of genome stability. The protein represents the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which can resolve DNA secondary structures that are formed during repair and recombination processes. Two identical copies of this gene are located on the p arm of chromosome 16 due to a segmental duplication; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants. Read-through transcription also occurs between this gene and the downstream SULT1A3 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3) gene. [provided by RefSeq, Nov 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": 2, "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": "B7ZME1;Q6NTG6", "ec_number_list": "3.4.19.12;2.3.2.27;3.1.-.-;5.6.2.4;3.6.4.-;2.7.11.1;5.6.2.1;3.5.2.6;3.6.4.13;3.6.-.-;2.3.1.48;2.3.1.-;3.1.22.-;5.6.2.3;3.1.21.-;3.1.4.1", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0008821 crossover junction DNA endonuclease activity;GO:0017108 5'-flap endonuclease activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000228 nuclear chromosome;GO:0033557 Slx1-Slx4 complex", "go_biological_process": "GO:1904431 positive regulation of t-circle formation;GO:0010833 telomere maintenance via telomere lengthening;GO:0006281 DNA repair;GO:0006260 DNA replication;GO:0000724 double-strand break repair via homologous recombination", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q9BQ83-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43156-1", "uniprot_id": "TTI1_HUMAN", "mass": 122069.0, "length": 1089, "protein_name": "TELO2-interacting protein 1 homolog", "gene_name": "TTI1", "organism": "Human", "refseq_name": "TELO2-interacting protein 1 homolog", "refseq_ac": "NP_001290386", "gene_names_uniprotkb": "TTI1; KIAA0406; SMG10", "gene_names_refseq": "KIAA0406; NEDMIM; TTI1; smg-10", "protein_names_uniprotkb": "TELO2-interacting protein 1 homolog; Protein SMG10", "protein_names_refseq": "TEL2-interacting protein 1 homolog; TELO2-interacting protein 1 homolog; Tel two interacting protein 1; smg-10 homolog, nonsense mediated mRNA decay factor", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); neurodevelopmental disorder with microcephaly and movement abnormalities (MONDO:MONDO:0957531)", "pathway": " (hsa:9675)", "pathway_count": 1, "publication_count": 81, "publication_id_list": "11237011;17081983;18691976;19664994;19691289;20068231;20371770;20427287;20800603;20801936;20810650;23186163;23263282;24657168;24714562;24715725;25576301;25880248;26154972;26375851;26539891;26811146;26812014;26992070;27397612;27862975;28832583;28904123;29493099;29557506;29632046;29786170;30315122;30429286;30779550;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31937595;32157095;32161166;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34211107;34357683;34405274;34509645;34561969;34838521;34932366;35051231;35251023;35494241;35580925;36010968;36284347;36403197;36724785;37217939;37938771;38253038;38501918;40914422", "class_list": "", "function": "ALKBH5 promotes hepatocellular carcinoma cell proliferation, migration and invasion by regulating TTI1 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly., [RefSeq, PubMed]; Data show that that knockdown of either Tti1 or Tel2 causes disassembly of mTORC1 and mTORC2., [RefSeq, PubMed]; IP7, formed by IP6K2, binds CK2 to enhance its phosphorylation of the Tti1/Tel2 complex, thereby stabilizing DNA-PKcs and ATM. This process stimulates p53 phosphorylation at serine 15 to activate the cell death program. Erratum:[Mol Cell. 2020 Aug 20;79(4):702. doi: 10.1016/j.molcel.2020.07.021. PMID: 32822581], [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes, which regulate cell growth and survival in response to nutrient and hormonal signals., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Structure of the Human TELO2-TTI1-TTI2 Complex., [RefSeq, PubMed]; TTI1 and TTI2 protect cells from spontaneous DNA damage, and are required for the establishment of the intra-S and G2/M checkpoin, [RefSeq, PubMed]; TTI1 promotes non-small-cell lung cancer progression by regulating the 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 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": "D6W4K3;Q5JX67;Q96A38;Q9BR47;Q9H4K0", "ec_number_list": "", "go_molecular_function": "GO:0019900 kinase binding;GO:0140777 protein-containing complex stabilizing activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0031931 TORC1 complex;GO:0031932 TORC2 complex;GO:0110078 TTT Hsp90 cochaperone complex", "go_biological_process": "GO:0050821 protein stabilization;GO:0032006 regulation of TOR signaling;GO:2000003 positive regulation of DNA damage checkpoint", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "O43156-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N680-1", "uniprot_id": "ZBTB2_HUMAN", "mass": 57337.0, "length": 514, "protein_name": "Zinc finger and BTB domain-containing protein 2", "gene_name": "ZBTB2", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 2", "refseq_ac": "NP_065912", "gene_names_uniprotkb": "ZBTB2; KIAA1483; ZNF437", "gene_names_refseq": "ZBTB2; ZNF437", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 2", "protein_names_refseq": "zinc finger and BTB domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57621)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "17525332;19380588;23481700;24275569;24607898;25218447;25576301;25755297;25772364;27600516;27846572;27920218;28832583;28904123;29242379;29493099;30429286;31092671;31154438;31530632;31844290;31848261;32157095;32387766;32938616;32983136;33298915;33968037;34087483;34509645;34932366;35580925;36010968;36341521;37257772;38665011;39197198;39328595;40307207", "class_list": "", "function": "APC and ZBTB2 May Mediate M2 Macrophage Infiltration to Promote the Development of Renal Fibrosis: A Bioinformatics Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; The novel circ_0004674/miR-139-5p/ZBTB2 regulatory cascade inhibits the development of oral squamous cell carcinoma., [RefSeq, PubMed]; ZBTB2 being considered as a multifunctional cell proliferation activator, notably through p21 repression, this work points out new epigenetic processes potentially involved in carcinogenesis., [RefSeq, PubMed]; ZBTB2 is Recruited to a Specific Subset of HIF-1 Target Loci to Facilitate Full Gene Expression Under Hypoxia., [RefSeq, PubMed]; ZBTB2 is a potential proto-oncogenic master control gene of the p53 pathway and, in particular, is a potent transcription repressor of the cell cycle arrest gene p21 by inhibiting p53 and Sp1, [RefSeq, PubMed]; ZBTB2 links p53 deficiency to HIF-1-mediated hypoxia signaling to promote cancer aggressiveness., [RefSeq, PubMed]; ZBTB7A forms a heterodimer with ZBTB2 and inhibits ZBTB2 homodimerization required for full activation of HIF-1., [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": 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": "A8K7C7;Q5SZ81;Q9P245", "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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0002682 regulation of immune system process;GO:0001817 regulation of cytokine production", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q8N680-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P13693-1", "uniprot_id": "TCTP_HUMAN", "mass": 19595.0, "length": 172, "protein_name": "Translationally-controlled tumor protein", "gene_name": "TPT1", "organism": "Human", "refseq_name": "translationally-controlled tumor protein isoform 3", "refseq_ac": "NP_001273202", "gene_names_uniprotkb": "TPT1", "gene_names_refseq": "HRF; TCTP; TPT1; p02; p23", "protein_names_uniprotkb": "Translationally-controlled tumor protein; Fortilin; HRF; Histamine-releasing factor; TCTP; p23", "protein_names_refseq": "fortilin; histamine-releasing factor; translationally-controlled tumor protein isoform 3; translationally-controlled tumor protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:7178)", "pathway_count": 1, "publication_count": 92, "publication_id_list": "11237011;11991642;12167714;1286667;1286669;15162379;15319436;15958728;16075062;16548883;17287340;18325344;18669648;20068231;21136679;21187478;23481700;24714562;24715725;25576301;25810538;25854427;26154972;26992070;27600516;27846572;27862975;27920218;2813067;28228285;28467828;28514659;28832583;28904123;29242379;29314611;29317506;29393594;29493099;29508533;29557506;29719201;30410026;30429286;30626607;30779550;30833945;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32350084;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34357683;34433824;34561969;34725712;34932366;35051231;35197550;35561310;35580925;36010968;36215666;36241641;36284347;36714975;36735630;37573872;38665916;7542803;9059837;9150946", "class_list": "", "function": "Elevated translationally controlled tumour protein promotes oral cancer progression and poor outcome., [RefSeq, PubMed]; Fortilin interacts with TGF-beta1 and prevents TGF-beta receptor activation. Publication Status: Online-Only, [RefSeq, PubMed]; Human TCTP was identified as a putative Plk-interacting clone by a two-hybrid screen. Plk phosphorylates TCTP on two serine residues in vitro and cofractionates with the majority of kinase activity toward TCTP in mitotic cell lysates., [RefSeq, PubMed]; Involved in calcium binding and microtubule stabilization (PubMed:12167714, PubMed:15162379, PubMed:15958728). Acts as a negative regulator of TSC22D1-mediated apoptosis, via interaction with and destabilization of TSC22D1 protein (PubMed:18325344)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Involved in calcium binding and microtubule stabilization. Acts as a negative regulator of TSC22D1-mediated apoptosis, via interaction with and destabilization of TSC22D1 protein., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; METTL13 promotes nasopharyngeal carcinoma progression through regulating the ZEB1/TPT1 axis., [RefSeq, PubMed]; Polymorphisms in TPT1 Pathways in Pediatric Astrocytomas., [RefSeq, PubMed]; The mRNA of the translationally controlled tumor protein P23/TCTP is a highly structured RNA, which activates the dsRNA-dependent protein kinase PKR (TCTP PROTEIN), [RefSeq, PubMed]; This gene encodes a protein that is a regulator of cellular growth and proliferation. Its mRNA is highly structured and contains an oligopyrimidine tract (5'-TOP) in its 5' untranslated region that functions to repress its translation under quiescent conditions. The encoded protein is involved in a variety of cellular pathways, including apoptosis, protein synthesis and cell division. It binds to and stabilizes microtubules, and removal of this protein through phosphorylation is required for progression through mitotic and meiotic cell divisions. This gene is known to play a role in carcinogenesis, and is upregulated in some cancer cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 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": 11, "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": "B2R7E5;Q6YLS2;Q7Z4J4;Q8TBK7;Q96EE2;Q9UC70", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0005509 calcium ion binding;GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:1902230 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;GO:0006816 calcium ion transport;GO:0006874 intracellular calcium ion homeostasis;GO:0009615 response to virus", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "P13693-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P283-1", "uniprot_id": "SEM5B_HUMAN", "mass": 125913.0, "length": 1151, "protein_name": "Semaphorin-5B", "gene_name": "SEMA5B", "organism": "Human", "refseq_name": "semaphorin-5B isoform 1", "refseq_ac": "NP_001026872", "gene_names_uniprotkb": "SEMA5B; KIAA1445; PRO34001; SEMAG", "gene_names_refseq": "SEMA5B; SEMAG; SemG", "protein_names_uniprotkb": "Semaphorin-5B", "protein_names_refseq": "sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B; semaphorin-5B isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54437); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 3, "publication_count": 22, "publication_id_list": "10.1101/2023.09.13.557529;11067851;11237011;12975309;16464858;16959974;18720094;19463192;19796186;19913121;20628086;22588082;23481700;23889335;25544610;26463840;28228285;29769354;29786170;31844290;33091337;37074911", "class_list": "", "function": "May act as a positive axonal guidance cue., [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]; SEMA5B could possibly serve as a candidate gene for alterations associated with asbestos exposure., [RefSeq, PubMed]; Sema5B regulates the development and maintenance of synapse size and number in hippocampal neurons. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]., [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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 62, "reported_interactions": 0, "missing_score": 9835, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A8K5U2;B7Z393;F8W9U8;Q6DD89;Q6UY12;Q9NW17", "ec_number_list": "", "go_molecular_function": "GO:0030215 semaphorin receptor binding;GO:0045499 chemorepellent activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0030335 positive regulation of cell migration;GO:0071526 semaphorin-plexin signaling pathway;GO:0001755 neural crest cell migration;GO:0007411 axon guidance;GO:0048675 axon extension", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9P283-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P53350-1", "uniprot_id": "PLK1_HUMAN", "mass": 68255.0, "length": 603, "protein_name": "Serine/threonine-protein kinase PLK1", "gene_name": "PLK1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase PLK1", "refseq_ac": "NP_005021", "gene_names_uniprotkb": "PLK1; PLK", "gene_names_refseq": "PLK1; PLK; STPK13", "protein_names_uniprotkb": "Serine/threonine-protein kinase PLK1; 2.7.11.21; PLK-1; Polo-like kinase 1; STPK13; Serine/threonine-protein kinase 13", "protein_names_refseq": "PLK-1; cell cycle regulated protein kinase; polo (Drosophia)-like kinase; serine/threonine-protein kinase 13; serine/threonine-protein kinase PLK1", "tax_id": 9606, "disease": "prostate carcinoma (Disease Ontology:DOID:10286); urinary bladder cancer (Disease Ontology:DOID:11054); ovary epithelial cancer (Disease Ontology:DOID:2152); endometriosis (Disease Ontology:DOID:289); breast carcinoma (Disease Ontology:DOID:3459)", "pathway": " (hsa:5347); (R-HSA-141430); (R-HSA-141444); (R-HSA-156711); (R-HSA-162658); (R-HSA-174178); (R-HSA-176412); (R-HSA-176417); (R-HSA-2299718); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-2565942); (R-HSA-2980767); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-5663220); (R-HSA-68877); (R-HSA-68881); (R-HSA-68884); (R-HSA-69273); (R-HSA-8852276); (R-HSA-8854518); (R-HSA-9648025); (R-HSA-9825892)", "pathway_count": 27, "publication_count": 499, "publication_id_list": "10393926;10395539;10411507;10600115;10600384;10652300;10678165;10679020;10733526;10770922;10827953;10958683;11062467;11063929;11076968;11081627;11181178;11202906;11237011;11238451;11285137;11306556;11313932;11371342;11408587;11447294;11509732;11535616;11739401;11804586;11859075;11897663;11907280;11956313;12006501;12086618;12101123;12194817;12207013;12208845;12221128;12364337;12411508;12429848;12442251;12446569;12447691;12524548;12577064;12639966;12679384;12695496;12732141;12738781;12754270;12791267;12805219;12839990;12840024;12852856;12852857;12939256;13678582;1384126;14532005;14580337;14592974;14654843;14657031;14730319;14734534;15006353;15014503;15024056;15037762;15070733;15085137;15148369;15199097;15339662;15456846;15469821;15469984;15498487;15507212;15572030;15611664;15616186;15654331;15661742;15664193;15678101;15678131;15705883;15713655;15723797;15737063;15750587;15864301;15866170;15944396;16079175;16198290;16247472;16292343;16357211;16413484;16439210;16439214;16462731;16533948;16541025;16582612;16622419;16622420;16645325;16682347;16760428;16890155;16890222;16943183;16980960;17030981;17081991;17112726;17113138;17129783;1717476;17182854;17187060;17196341;17198702;17218258;17307877;17310276;17322306;17344846;17351640;1737036;17376779;17461553;17495026;17533373;17574030;17617734;17646400;17719545;17943598;17981789;18001770;18005335;18037885;18097444;18167358;18174154;18211953;1828290;18285455;18329369;18331714;18367646;1836978;18378770;18384749;18385516;18391401;18394995;18418051;18427546;18434598;18477460;18521620;18551195;18560274;18566290;18615013;18662541;18669648;18691976;18694559;18695677;18716626;18718915;18794143;18801063;18923426;19004860;1902553;19029337;19081074;19160488;19192479;19350017;19351716;19369195;19468300;19468302;19473992;19509060;19543530;19596235;19597481;19651986;19696148;19706541;19804365;19815554;19940019;19941817;19965387;20018861;20030946;20068231;20083603;20101212;20112406;20214750;20230748;20308558;20360007;20373286;20399632;20551165;20551166;20558667;20577264;20591975;20622854;20656208;20671765;20679239;20869364;20937827;20966048;21111234;21148482;21273506;21347367;21397845;21402792;21422230;21498573;21515671;21548880;21565611;21576392;21620453;21642957;21725307;21739483;21792235;21813648;21857149;21868368;21878504;21880710;21900495;21911480;21987589;22094460;22094468;22179047;22202082;22275430;22325354;22365832;22391450;22433857;22564745;22566210;22608513;22641346;22647378;22653444;22686412;22701722;22726585;22753416;22790947;22869377;22885700;22898188;23109430;23141531;23141541;23186163;23222643;23236459;23240008;23242214;23253480;23348840;23400999;23455152;23455478;23498719;23509069;23530209;23695676;23747070;23769972;23789104;23801653;23921553;24018379;24053599;24067371;24089205;24152729;24204733;24231678;24338364;24469809;24714562;24715725;24722282;24785407;24914801;24982133;25047611;25142731;25245035;25246616;25313408;25418920;25469497;25502872;25503564;25532896;25563361;25576301;25607646;25645385;25659891;25740311;25789526;25880248;25892735;25965828;25986610;26057687;26114094;26154972;26206521;26242183;26259146;26375851;26486273;26811146;26811421;26820885;26919439;26929215;26992070;27504491;27568005;27600516;27603133;27721411;27846572;27862975;27899378;27920218;27965426;27979967;28063628;28218747;28228285;28467828;28510447;28512243;28832583;28834231;28904123;29154753;29191835;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29753186;29786170;29789417;29962965;29976560;30069007;30315122;30410026;30524438;30715179;30779550;30789735;30833945;30854428;31031853;31092671;31156720;31217245;31222486;31409757;31530632;31548612;31597699;31844290;31848261;31863092;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32575753;32799774;32897882;32938616;32983136;33109704;33141586;33262323;33298915;33392160;33402344;33592498;33633747;33691108;33717175;33754208;33771996;33805672;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34197606;34260926;34357683;34509645;34561969;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36231009;36241641;36284347;36626982;37440612;37674080;38885805;39236163;39424095;39614052;40596516;41361016;7478607;7737117;7743995;7769006;7790358;7799941;7902533;7962193;7987387;8018557;8119945;8127874;8343963;8428596;8440392;8703070;8838651;8991084;9083047;9150144;9268380;9649308;9649503;9670027;9679058;9710594;9753325;9844631;9892021", "class_list": "", "function": "A miR-361-5p/ ORC6/ PLK1 axis regulates prostate cancer progression., [RefSeq, PubMed]; Role of protein kinase PLK1 in the epigenetic maintenance of centromeres., [RefSeq, PubMed]; Serine/threonine-protein kinase that performs several important functions throughout M phase of the cell cycle, including the regulation of centrosome maturation and spindle assembly, the removal of cohesins from chromosome arms, the inactivation of anaphase-promoting complex/cyclosome (APC/C) inhibitors, and the regulation of mitotic exit and cytokinesis (PubMed:11202906, PubMed:12207013, PubMed:12447691, PubMed:12524548, PubMed:12738781, PubMed:12852856, PubMed:12939256, PubMed:14532005, PubMed:14734534, PubMed:15070733, PubMed:15148369, PubMed:15469984, PubMed:16198290, PubMed:16247472, PubMed:16980960, PubMed:17081991, PubMed:17351640, PubMed:17376779, PubMed:17617734, PubMed:18174154, PubMed:18331714, PubMed:18418051, PubMed:18477460, PubMed:18521620, PubMed:18615013, PubMed:19160488, PubMed:19351716, PubMed:19468300, PubMed:19468302, PubMed:19473992, PubMed:19509060, PubMed:19597481, PubMed:23455478, PubMed:23509069, PubMed:28512243, PubMed:8991084). Polo-like kinase proteins act by binding and phosphorylating proteins that are already phosphorylated on a specific motif recognized by the POLO box domains (PubMed:11202906, PubMed:12207013, PubMed:12447691, PubMed:12524548, PubMed:12738781, PubMed:12852856, PubMed:12939256, PubMed:14532005, PubMed:14734534, PubMed:15070733, PubMed:15148369, PubMed:15469984, PubMed:16198290, PubMed:16247472, PubMed:16980960, PubMed:17081991, PubMed:17351640, PubMed:17376779, PubMed:17617734, PubMed:18174154, PubMed:18331714, PubMed:18418051, PubMed:18477460, PubMed:18521620, PubMed:18615013, PubMed:19160488, PubMed:19351716, PubMed:19468300, PubMed:19468302, PubMed:19473992, PubMed:19509060, PubMed:19597481, PubMed:23455478, PubMed:23509069, PubMed:28512243, PubMed:8991084). Phosphorylates BORA, BUB1B/BUBR1, CCNB1, CDC25C, CEP55, ECT2, ERCC6L, FBXO5/EMI1, FOXM1, KIF20A/MKLP2, CENPU, NEDD1, NINL, NPM1, NUDC, PKMYT1/MYT1, KIZ, MRE11, PPP1R12A/MYPT1, POLQ, PRC1, RACGAP1/CYK4, RAD51, RHNO1, SGO1, STAG2/SA2, TEX14, TOPORS, p73/TP73, TPT1, WEE1 and HNRNPU (PubMed:11202906, PubMed:12207013, PubMed:12447691, PubMed:12524548, PubMed:12738781, PubMed:12852856, PubMed:12939256, PubMed:14532005, PubMed:14734534, PubMed:15070733, PubMed:15148369, PubMed:15469984, PubMed:16198290, PubMed:16247472, PubMed:16980960, PubMed:17081991, PubMed:17218258, PubMed:17351640, PubMed:17376779, PubMed:17617734, PubMed:18174154, PubMed:18331714, PubMed:18418051, PubMed:18477460, PubMed:18521620, PubMed:18615013, PubMed:19160488, PubMed:19351716, PubMed:19468300, PubMed:19468302, PubMed:19473992, PubMed:19509060, PubMed:19597481, PubMed:22325354, PubMed:23455478, PubMed:23509069, PubMed:25986610, PubMed:26811421, PubMed:28512243, PubMed:37440612, PubMed:37674080, PubMed:8991084). Plays a key role in centrosome functions and the assembly of bipolar spindles by phosphorylating KIZ, NEDD1 and NINL (PubMed:16980960, PubMed:19509060). NEDD1 phosphorylation promotes subsequent targeting of the gamma-tubulin ring complex (gTuRC) to the centrosome, an important step for spindle formation (PubMed:19509060). Phosphorylation of NINL component of the centrosome leads to NINL dissociation from other centrosomal proteins (PubMed:12852856). Involved in mitosis exit and cytokinesis by phosphorylating CEP55, ECT2, KIF20A/MKLP2, CENPU, PRC1 and RACGAP1 (PubMed:12939256, PubMed:16247472, PubMed:17351640, PubMed:19468300, PubMed:19468302). Recruited at the central spindle by phosphorylating and docking PRC1 and KIF20A/MKLP2; creates its own docking sites on PRC1 and KIF20A/MKLP2 by mediating phosphorylation of sites subsequently recognized by the POLO box domains (PubMed:12939256, PubMed:17351640). Phosphorylates RACGAP1, thereby creating a docking site for the Rho GTP exchange factor ECT2 that is essential for the cleavage furrow formation (PubMed:19468300, PubMed:19468302). Promotes the central spindle recruitment of ECT2 (PubMed:16247472). Plays a central role in G2/M transition of mitotic cell cycle by phosphorylating CCNB1, CDC25C, FOXM1, CENPU, PKMYT1/MYT1, PPP1R12A/MYPT1 and WEE1 (PubMed:11202906, PubMed:12447691, PubMed:12524548, PubMed:19160488). Part of a regulatory circuit that promotes the activation of CDK1 by phosphorylating the positive regulator CDC25C and inhibiting the negative regulators WEE1 and PKMYT1/MYT1 (PubMed:11202906). Also acts by mediating phosphorylation of cyclin-B1 (CCNB1) on centrosomes in prophase (PubMed:12447691, PubMed:12524548). Phosphorylates FOXM1, a key mitotic transcription regulator, leading to enhance FOXM1 transcriptional activity (PubMed:19160488). Involved in kinetochore functions and sister chromatid cohesion by phosphorylating BUB1B/BUBR1, FBXO5/EMI1 and STAG2/SA2 (PubMed:15148369, PubMed:15469984, PubMed:17376779, PubMed:18331714). PLK1 is high on non-attached kinetochores suggesting a role of PLK1 in kinetochore attachment or in spindle assembly checkpoint (SAC) regulation (PubMed:17617734). Required for kinetochore localization of BUB1B (PubMed:17376779). Regulates the dissociation of cohesin from chromosomes by phosphorylating cohesin subunits such as STAG2/SA2 (By similarity). Phosphorylates SGO1: required for spindle pole localization of isoform 3 of SGO1 and plays a role in regulating its centriole cohesion function (PubMed:18331714). Mediates phosphorylation of FBXO5/EMI1, a negative regulator of the APC/C complex during prophase, leading to FBXO5/EMI1 ubiquitination and degradation by the proteasome (PubMed:15148369, PubMed:15469984). Acts as a negative regulator of p53 family members: phosphorylates TOPORS, leading to inhibit the sumoylation of p53/TP53 and simultaneously enhance the ubiquitination and subsequent degradation of p53/TP53 (PubMed:19473992). Phosphorylates the transactivation domain of the transcription factor p73/TP73, leading to inhibit p73/TP73-mediated transcriptional activation and pro-apoptotic functions. Phosphorylates BORA, and thereby promotes the degradation of BORA (PubMed:18521620). Contributes to the regulation of AURKA function (PubMed:18615013, PubMed:18662541). Also required for recovery after DNA damage checkpoint and entry into mitosis (PubMed:18615013, PubMed:18662541). Phosphorylates MISP, leading to stabilization of cortical and astral microtubule attachments required for proper spindle positioning (PubMed:23509069). Together with MEIKIN, acts as a regulator of kinetochore function during meiosis I: required both for mono-orientation of kinetochores on sister chromosomes and protection of centromeric cohesin from separase-mediated cleavage (By similarity). Phosphorylates CEP68 and is required for its degradation (PubMed:25503564). Regulates nuclear envelope breakdown during prophase by phosphorylating DCTN1 resulting in its localization in the nuclear envelope (PubMed:20679239). Phosphorylates the heat shock transcription factor HSF1, promoting HSF1 nuclear translocation upon heat shock (PubMed:15661742). Phosphorylates HSF1 also in the early mitotic period; this phosphorylation regulates HSF1 localization to the spindle pole, the recruitment of the SCF(BTRC) ubiquitin ligase complex induicing HSF1 degradation, and hence mitotic progression (PubMed:18794143). Regulates mitotic progression by phosphorylating RIOK2 (PubMed:21880710). Through the phosphorylation of DZIP1 regulates the localization during mitosis of the BBSome, a ciliary protein complex involved in cilium biogenesis (PubMed:27979967). Regulates DNA repair during mitosis by mediating phosphorylation of POLQ and RHNO1, thereby promoting POLQ recruitment to DNA damage sites (PubMed:37440612, PubMed:37674080). Phosphorylates ATXN10 which may play a role in the regulation of cytokinesis and may stimulate the proteasome-mediated degradation of ATXN10 (PubMed:21857149)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; The Ser/Thr protein kinase encoded by this gene belongs to the CDC5/Polo subfamily. It is highly expressed during mitosis and elevated levels are found in many different types of cancer. Depletion of this protein in cancer cells dramatically inhibited cell proliferation and induced apoptosis; hence, it is a target for cancer therapy. [provided by RefSeq, Sep 2015]., [RefSeq]; USP18 promotes the proliferation, invasion, and migration of head and neck squamous cell carcinoma by deubiquitinating PLK1., [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": 30, "reported_mutagensis": 20, "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": "Q15153;Q99746", "ec_number_list": "3.6.5.-;2.7.11.1;2.7.11.21;3.4.19.12;2.3.2.24;2.3.2.23;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;3.6.4.10;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;3.4.25.1;3.1.3.48;2.3.1.-;3.1.3.16;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.3.2.-;2.7.11.31;3.6.5.2;3.1.3.53;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;3.4.22.49;2.7.11.19;4.1.1.32;3.6.4.12;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0008017 microtubule binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0097681 double-strand break repair via alternative nonhomologous end joining;GO:2000042 negative regulation of double-strand break repair via homologous recombination;GO:1903673 mitotic cleavage furrow formation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0000278 mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 50.2, "record_id": "P53350-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q4ZJI4-1", "uniprot_id": "SL9B1_HUMAN", "mass": 56054.0, "length": 515, "protein_name": "Sodium/hydrogen exchanger 9B1", "gene_name": "SLC9B1", "organism": "Human", "refseq_name": "sodium/hydrogen exchanger 9B1 isoform 2", "refseq_ac": "NP_001094344", "gene_names_uniprotkb": "SLC9B1; NHA1; NHEDC1", "gene_names_refseq": "NHA1; NHEDC1; SLC9B1", "protein_names_uniprotkb": "Sodium/hydrogen exchanger 9B1; NHE domain-containing protein 1; Na(+)/H(+) exchanger-like domain-containing protein 1; Sodium/hydrogen exchanger-like domain-containing protein 1; Solute carrier family 9, subfamily B member 1", "protein_names_refseq": "NHE domain-containing protein 1; Na(+)/H(+) exchanger-like domain-containing protein 1; sodium/hydrogen exchanger 9B1 isoform 2; sodium/hydrogen exchanger 9B1; sodium/hydrogen exchanger-like domain-containing protein 1; solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1; solute carrier family 9, subfamily B (cation proton antiporter 2), member 1; testicular tissue protein Li 127", "tax_id": 9606, "disease": "", "pathway": " (hsa:150159); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 99, "publication_id_list": "10.1074/mcp.M114.046862;10564087;10642508;10720933;10767424;10830164;10831588;11182090;11237011;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22773952;22946059;2298749;23112050;2321095;23616951;2536303;25701605;25813380;25880248;26359375;26562072;28071645;28154142;28790369;28832583;28904123;29235940;29557506;31217245;31844290;32387766;35051231;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Cloning and characterization of a novel NHEDC1 (Na+/H+ exchanger like domain containing 1) gene; it was mapped to chromosome 4p24; molecular weight of NHEDC1 is about 56 KDa; it is exclusively expressed in the testis, [RefSeq, PubMed]; DNA methylation patterns in maternal blood at four CpG sites in SLC9B1 are predictive of fetal intolerance of labor during the late second and early third trimester., [RefSeq, PubMed]; Results identified multiple cis-acting DNA regulatory elements in the 5 end of the SLC9B1 gene and shown that DNA methylation at these elements could provide mechanisms by which SLC9B1 expression is restricted to male germ cells., [RefSeq, PubMed]; Sperm-specific Na(+)/H(+) exchanger involved in intracellular pH regulation of spermatozoa. Involved in sperm motility and fertility., [UniProtKB, UniProtKB]; The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple 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": 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": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A1KXV1;B9EH04;C9JBP7;Q49A30;Q8NCV2;Q8WVZ0", "ec_number_list": "", "go_molecular_function": "GO:0015385 sodium:proton antiporter activity;GO:0015297 antiporter activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0097228 sperm principal piece;GO:0016020 membrane", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0034220 monoatomic ion transmembrane transport;GO:0007338 single fertilization;GO:0051453 regulation of intracellular pH;GO:1902600 proton transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q4ZJI4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HB58-1", "uniprot_id": "SP110_HUMAN", "mass": 78396.0, "length": 689, "protein_name": "Sp110 nuclear body protein", "gene_name": "SP110", "organism": "Human", "refseq_name": "sp110 nuclear body protein isoform d", "refseq_ac": "NP_001171944", "gene_names_uniprotkb": "SP110", "gene_names_refseq": "IFI41; IFI75; IPR1; SP110; VODI", "protein_names_uniprotkb": "Sp110 nuclear body protein; Interferon-induced protein 41/75; Speckled 110 kDa; Transcriptional coactivator Sp110", "protein_names_refseq": "interferon-induced protein 41, 30kD; interferon-induced protein 41/75; interferon-induced protein 75, 52kD; phosphoprotein 41; phosphoprotein 75; sp110 nuclear body protein isoform d; speckled 110 kDa; transcriptional coactivator Sp110", "tax_id": 9606, "disease": "hepatic venoocclusive disease with immunodeficiency (Disease Ontology:DOID:0112254); tuberculosis (Disease Ontology:DOID:399)", "pathway": " (hsa:3431)", "pathway_count": 1, "publication_count": 87, "publication_id_list": "10913195;11237011;14559998;16648851;16803959;16816019;16959974;16960008;18452278;19367720;19690332;20058876;20068231;21406692;21850230;22424782;22544926;22645359;23186163;23481700;23783831;24275569;24714562;25469497;25576301;25593309;26024233;26154972;26728094;26992070;27397612;27846572;27920218;28063628;28228285;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30429286;30484775;31092671;31154438;31721003;31844290;31848261;31998317;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33968037;33981976;34087483;34171305;34211107;34509645;34561969;34932366;35051231;35308005;35318648;35561310;35580925;35653238;36010968;36249417;36284347;37938771;39162523;7693701", "class_list": "", "function": "Epigenetic regulation of Fructose-1,6-bisphosphatase 1 by host transcription factor Speckled 110 kDa during hepatitis B virus infection., [RefSeq, PubMed]; HSP60, SP110 and TNF-alpha expression in Chlamydia pneumoniae-positive versus Chlamydia pneumoniae-negative atherosclerotic plaques., [RefSeq, PubMed]; Novel Missense Mutation inSP110Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD., [RefSeq, PubMed]; Polymorphisms in the ASAP1 and SP110 Genes and Its Association with the Susceptibility to Pulmonary Tuberculosis in a Mongolian Population. Publication Status: Online-Only, [RefSeq, PubMed]; The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes with retinoic acid response elements (RARE)., [UniProtKB]; Transcriptional regulators SP110 and SP140 modulate inflammatory response genes in Mycobacterium tuberculosis-infected human macrophages., [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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "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": "B4DVI4;F5H1M1;Q14976;Q14977;Q53TG2;Q8WUZ6;Q9HCT8", "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:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0031981 nuclear lumen", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006952 defense response", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q9HB58-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14190-1", "uniprot_id": "SIM2_HUMAN", "mass": 73219.0, "length": 667, "protein_name": "Single-minded homolog 2", "gene_name": "SIM2", "organism": "Human", "refseq_name": "single-minded homolog 2 long isoform", "refseq_ac": "NP_005060", "gene_names_uniprotkb": "SIM2; BHLHE15", "gene_names_refseq": "HMC13F06; HMC29C01; SIM2; SIM; bHLHe15", "protein_names_uniprotkb": "Single-minded homolog 2; Class E basic helix-loop-helix protein 15; bHLHe15", "protein_names_refseq": "class E basic helix-loop-helix protein 15; single-minded family bHLH transcription factor 2; single-minded homolog 2 long isoform; transcription factor SIM2", "tax_id": 9606, "disease": "", "pathway": " (hsa:6493)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;14697214;19737960;24690990;24715725;25418920;28855257;30524438;32157095;32161166;32938616;32983136;33650646;33981976;35051231;35730699;37217939;7568099;7647800;8661114;8905236;9199934;9503011", "class_list": "", "function": "Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes., [RefSeq, PubMed]; Long noncoding RNA CASC15 facilitates esophageal squamous cell carcinoma tumorigenesis via decreasing SIM2 stability via FTOmediated demethylation., [RefSeq, PubMed]; This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the parkin RBR E3 ubiquitin protein ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]., [RefSeq]; Transcription factor that may be a master gene of CNS development in cooperation with Arnt. It may have pleiotropic effects in the tissues expressed during development., [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": 20, "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": "O60766;Q15470;Q15471;Q15472;Q15473;Q16532;Q2TBD8", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0046982 protein heterodimerization activity;GO:0000977 RNA polymerase II transcription 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:0016604 nuclear body;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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q14190-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MV23-1", "uniprot_id": "SERP3_HUMAN", "mass": 46963.0, "length": 424, "protein_name": "Serpin E3", "gene_name": "SERPINE3", "organism": "Human", "refseq_name": "serpin E3 isoform 2 precursor", "refseq_ac": "NP_001094790", "gene_names_uniprotkb": "SERPINE3", "gene_names_refseq": "SERPINE3", "protein_names_uniprotkb": "Serpin E3", "protein_names_refseq": "Serpin E3; nexin-related serine protease inhibitor; serpin E3 isoform 2 precursor; serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:647174)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;35580925;35727138", "class_list": "", "function": "Probable serine protease inhibitor., [UniProtKB]; Vision-related convergent gene losses reveal SERPINE3's unknown role in the eye. 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": "B1V8P3", "ec_number_list": "", "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A8MV23-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43147-1", "uniprot_id": "SGSM2_HUMAN", "mass": 113285.0, "length": 1006, "protein_name": "Small G protein signaling modulator 2", "gene_name": "SGSM2", "organism": "Human", "refseq_name": "small G protein signaling modulator 2 isoform 2", "refseq_ac": "NP_001091979", "gene_names_uniprotkb": "SGSM2; KIAA0397; RUTBC1", "gene_names_refseq": "RUTBC1; SGSM2", "protein_names_uniprotkb": "Small G protein signaling modulator 2; RUN and TBC1 domain-containing protein 1", "protein_names_refseq": "RUN and TBC1 domain containing 1; small G protein signaling modulator 2 isoform 2; small G protein signaling modulator 2 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9905)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;17509819;21808068;24714562;24958902;25576301;25880248;25892735;26620560;26728094;26992070;27600516;28228285;28832583;28834231;29242379;29508533;29557506;29632046;29769354;29786170;30315122;30429286;30489189;30744493;31154438;31530632;31844290;31848261;32157095;32357974;32502341;32938616;33592498;33691108;33912179;33968037;33981976;34932366;35051231;35264562;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "Data suggest RUTBC1/SGSM2 in melanocytes functions as physiological GTPase-activating protein for Rab32/Rab38 in regulation of transport of melanogenic enzymes (tyrosinase, tyrosinase-related protein 1, dopachrome isomerase) into melanosomes., [RefSeq, PubMed]; Identification of novel protein SGSM2 which modulate small G protein (RAP and RAB)-mediated signaling pathway, [RefSeq, PubMed]; Increased expression of SGSM2 is associated with estrogen receptor-positive breast cancer metastasis., [RefSeq, PubMed]; Possesses GTPase activator activity towards RAB32, RAB33B and RAB38 (PubMed:21808068, PubMed:26620560). Regulates the trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes by inactivating RAB32 and RAB38. Inhibits RAB32 and RAB38 activation both directly by promoting their GTPase activity and indirectly by disrupting the RAB9A-HPS4 interaction which is required for RAB32/38 activation (PubMed:26620560)., [UniProtKB, PubMed, PubMed]; RUTBC1 is a Tre2/Bub2/Cdc16 domain-containing protein that binds to Rab9A-GTP both in vitro and in cultured cells, but is not a GTPase-activating protein for Rab9A., [RefSeq, PubMed]; SGSM2 inhibits thyroid cancer progression by activating RAP1 and enhancing competitive RAS inhibition. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation. [provided by RefSeq, Oct 2016]., [RefSeq]; Weighted gene co-expression network analysis identifies specific modules and hub genes related to subsyndromal symptomatic 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": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 14, "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": "A5LGW2;B4DH69;Q49AC2;Q6ZUY2;Q8IXU4", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0042470 melanosome", "go_biological_process": "GO:0034499 late endosome to Golgi transport", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "O43147-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NYZ4-1", "uniprot_id": "SIGL8_HUMAN", "mass": 54042.0, "length": 499, "protein_name": "Sialic acid-binding Ig-like lectin 8", "gene_name": "SIGLEC8", "organism": "Human", "refseq_name": "sialic acid-binding Ig-like lectin 8 isoform 1 precursor", "refseq_ac": "NP_055257", "gene_names_uniprotkb": "SIGLEC8; SAF2", "gene_names_refseq": "SAF2; SIGLEC-8; SIGLEC8L; SIGLEC8", "protein_names_uniprotkb": "Sialic acid-binding Ig-like lectin 8; SAF-2; Sialoadhesin family member 2; Siglec-8", "protein_names_refseq": "CDw329; SAF-2; sialic acid-binding Ig-like lectin 8 isoform 1 precursor; sialoadhesin family member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:27181); (R-HSA-198933)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "10499918;10625619;10746781;10856141;11095983;11231274;11237011;11265639;11284738;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12609831;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15489334;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;20730098;21241660;21248752;21800138;21841309;21877119;22396535;23695528;23929856;24305946;24715725;25703557;25716998;26284469;26300885;27357658;28734845;28888781;30543818;31530632;31848261;32077788;32502341;32938616;33670444;33755113;34561969;35051231;35580925;36711084;39173029;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "glycogene", "function": "First Evidence for a Role of Siglec-8 in Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Induction of the endogenous sialoglycan ligand for eosinophil death receptor Siglec-8 in chronic rhinosinusitis with hyperplastic nasal polyposis., [RefSeq, PubMed]; Promoter region single nucleotide polymorphism of siglec-8 gene associates with susceptibility to allergic asthma., [RefSeq, PubMed]; Putative adhesion molecule that mediates sialic-acid dependent binding to blood cells (PubMed:10625619, PubMed:10856141). Preferentially binds to alpha-2,3-linked sialic acid. Also binds to alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface (PubMed:10625619). Recognizes simultaneously epitopes having a terminal N-acetylneuraminic acid (sialic acid) and an underlying 6-O-sulfated galactose. Preferentially binds to Gal-6-sulfated sialyl-Lewis X glycan epitopes (PubMed:27357658)., [UniProtKB, PubMed, PubMed, PubMed]; Sialic acid binding immunoglobulin-like lectin 8 (Siglec-8) cross-linking with antibodies rapidly generated caspase-3-like activity and reduced eosinophil viability through induction of apoptosis, [RefSeq, PubMed]; Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33 (MIM 159590)), are a family of type 1 transmembrane proteins each having a unique expression pattern, mostly in hemopoietic cells. SIGLEC8 is a member of the CD33-like subgroup of SIGLECs, which are localized to 19q13.3-q13.4 and have 2 conserved cytoplasmic tyrosine-based motifs: an immunoreceptor tyrosine-based inhibitory motif, or ITIM (see MIM 604964), and a motif homologous to one identified in signaling lymphocyte activation molecule (SLAM; MIM 603492) that mediates an association with SLAM-associated protein (SAP; MIM 300490) (summarized by Foussias et al., 2000 [PubMed 11095983]).[supplied by OMIM, May 2010]., [RefSeq]; Sialylated keratan sulfates on MUC5B are Siglec-8 ligands in the human esophagus., [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": 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": 1, "reported_phosphosites": 0, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 760, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 27, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z728", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0030246 carbohydrate binding;GO:0033691 sialic acid binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "Q9NYZ4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P48594-1", "uniprot_id": "SPB4_HUMAN", "mass": 44854.0, "length": 390, "protein_name": "Serpin B4", "gene_name": "SERPINB4", "organism": "Human", "refseq_name": "serpin B4 isoform 1", "refseq_ac": "NP_002965", "gene_names_uniprotkb": "SERPINB4; PI11; SCCA2", "gene_names_refseq": "LEUPIN; PI11; SCCA-2; SCCA1; SCCA2; SERPINB4", "protein_names_uniprotkb": "Serpin B4; Leupin; PI-11; Peptidase inhibitor 11; SCCA-2; Squamous cell carcinoma antigen 2", "protein_names_refseq": "SCCA2/SCCA1 fusion protein; peptidase inhibitor 11; protease inhibitor (leucine-serpin); serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4; serpin B4 isoform 1; serpin B4; serpin peptidase inhibitor, clade B (ovalbumin), member 4; squamous cell carcinoma antigen 1; squamous cell carcinoma antigen 2", "tax_id": 9606, "disease": "alpha 1-antitrypsin deficiency (Disease Ontology:DOID:13372)", "pathway": " (hsa:6318)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "10956412;11237011;11267667;20305658;26375851;26992070;30397120;30833945;31154438;32373127;34087483;34270940;34878006;34932366;35051231;35494241;35537383;35580925;36241641;36301759;36791109;7589435;7724531", "class_list": "", "function": "ALK fusion NSCLC oncogenes promote survival and inhibit NK cell responses via SERPINB4 expression., [RefSeq, PubMed]; Differences in Thymus and Activation-Regulated Chemokine and Squamous Cell Carcinoma Antigen 2 Levels in Food Protein-Induced Enterocolitis Syndrome and Atopic Dermatitis., [RefSeq, PubMed]; Evaluation of squamous cell carcinoma antigen 1 expression in oral squamous cell carcinoma (tumor cells and peritumoral T-lymphocytes) and verrucous carcinoma and comparison with normal oral mucosa. Publication Status: Online-Only, [RefSeq, PubMed]; Increased expression of squamous cell carcinoma antigen 1 and 2 in mycosis fungoides and Sezary syndrome', trans 'Increased expression of squamous cell carcinoma antigen 1 and 2 in mycosis fungoides and Sezary syndrome., [RefSeq, PubMed]; May act as a protease inhibitor to modulate the host immune response against tumor cells., [UniProtKB]; The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein is highly expressed in many tumor cells and can inactivate granzyme M, an enzyme that kills tumor cells. This protein, along with serpin B3, can be processed into smaller fragments that aggregate to form an autoantigen in psoriasis, probably by causing chronic inflammation. [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": 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": "A8K847", "ec_number_list": "", "go_molecular_function": "GO:0002020 protease binding;GO:0004867 serine-type endopeptidase inhibitor activity;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0042270 protection from natural killer cell mediated cytotoxicity;GO:0030162 regulation of proteolysis", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "P48594-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q68CR1-1", "uniprot_id": "SE1L3_HUMAN", "mass": 128567.0, "length": 1132, "protein_name": "Protein sel-1 homolog 3", "gene_name": "SEL1L3", "organism": "Human", "refseq_name": "protein sel-1 homolog 3 isoform 2", "refseq_ac": "NP_001284521", "gene_names_uniprotkb": "SEL1L3; KIAA0746", "gene_names_refseq": "SEL1L3; Sel-1L3", "protein_names_uniprotkb": "Protein sel-1 homolog 3; Sel-1L3; Suppressor of lin-12-like protein 3", "protein_names_refseq": "protein sel-1 homolog 3 isoform 2; protein sel-1 homolog 3; sel-1 suppressor of lin-12-like 3; suppressor of lin-12-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:23231)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;17457313;18669648;18991276;23481700;24190977;24715725;25505266;25576301;25813380;25892735;26375851;26992070;27600516;27846572;27920218;28218747;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30484775;30779550;31844290;32157095;32357974;32387766;32488085;32502341;32938616;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33912179;33968037;34087483;34171305;34185709;34509645;35051231;35289036;35580925;36010968;36215666;36241641;36284347;36349894;36581221;37074911;37938771;37993256", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SEL1L3 as a link molecular between renal cell carcinoma and atherosclerosis based on bioinformatics analysis and experimental verification., [RefSeq, PubMed]; Tissue Proteogenomic Landscape Reveals the Role of Uncharacterized SEL1L3 in Progression and Immunotherapy Response in Lung Adenocarcinoma., [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": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A0PJH6;A8K0X2;O94847;Q6P999;Q96G59", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q68CR1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75752-1", "uniprot_id": "B3GL1_HUMAN", "mass": 39512.0, "length": 331, "protein_name": "UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1", "gene_name": "B3GALNT1", "organism": "Human", "refseq_name": "UDP-GalNAc:beta-1, 3-N-acetylgalactosaminyltransferase 1 isoform b", "refseq_ac": "NP_001033717", "gene_names_uniprotkb": "B3GALNT1; B3GALT3; PRO1074", "gene_names_refseq": "3-GalNAc-T1; 3-GalTase; B3GALANT1; B3GALNT1; B3GALT3; GLCT3; GLOB; Gb4Cer; P1; b3Gal-T3; beta-1; beta-3-Gx-T3; beta3Gal-T3; galT3", "protein_names_uniprotkb": "UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1; 2.4.1.79; Beta-1,3-GalNAc-T1; Beta-1,3-GalTase 3; Beta-1,3-galactosyltransferase 3; Beta-3-Gx-T3; Beta3Gal-T3; Beta3GalT3; Galactosylgalactosylglucosylceramide beta-D-acetyl-galactosaminyltransferase; Globoside synthase; UDP-N-acetylgalactosamine:globotriaosylceramide beta-1,3-N-acetylgalactosaminyltransferase; b3Gal-T3", "protein_names_refseq": "P antigen synthase; P blood group globoside; UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group); UDP-GalNAc:beta-1, 3-N-acetylgalactosaminyltransferase 1 isoform b; UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1; UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group); UDP-N-acetylgalactosamine:globotriaosylceramide beta-1,3-N-acetylgalactosaminyltransferase; beta-1,3-GalNAc-T1; beta-1,3-GalTase 3; beta-1,3-galactosyltransferase 3; brainiac1; galactosylgalactosylglucosylceramide beta-D-acetyl-galactosaminyltransferase; globoside synthase; globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase", "tax_id": 9606, "disease": "obsolete blood group, p1pk system (MONDO:MONDO:0044222)", "pathway": " (hsa:8706); (R-HSA-9840309)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10601645;10748143;10993897;11018043;11237011;11283017;11956206;12023287;12222957;12668675;12815231;12888565;12975309;1601877;16934889;20547865;2118655;22735313;23090970;23290777;23584533;23746551;23882130;24190977;24498430;24782133;25521548;25813380;26037356;26055721;29437277;29802621;29873420;32350084;33592498;33912179;33981976;34357683;34982351;35051231;35154160;7876235;7890749;8643456;8830034;8910600;8920913;9030544;9125199;9199191;9582303;9822625", "class_list": "glycogene;glycosyltransferase", "function": "B1,3GalNAc-T1 uses different acceptors to form immunologically distinct glycosphingolipids., [RefSeq, PubMed]; Multiple miscarriages in two sisters of Thai origin with the rare P(k) phenotype caused by a novel nonsense mutation at the B3GALNT1 locus., [RefSeq, PubMed]; TINAGL1 and B3GALNT1 are possible candidates for drug compounds that inhibit their gene expression, [RefSeq, PubMed]; The N-acetylgalactose aminotransferase gene 539G>C mutation resulted in A2B phenotype generation, and individual serum contained the anti-A1 antibody. Publication Status: Online-Only, [RefSeq, PubMed]; The Pk phenotype is resulted from 433 C>T mutation in the B3GALNT1 gene., [RefSeq, PubMed]; This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]., [RefSeq]; Transfers N-acetylgalactosamine onto globotriaosylceramide (PubMed:10993897). Plays a critical role in preimplantation stage embryonic development (By similarity)., [UniProtKB, UniProtKB, PubMed]; Transfers N-acetylgalactosamine onto globotriaosylceramide. Plays a critical role in preimplantation stage embryonic development., [UniProtKB, 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": 3, "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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 367, "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": "D3DNM4;Q3Y531;Q6IAI5;Q8NFM8;Q8NFM9;Q9HA06", "ec_number_list": "2.4.1.-;2.4.1.79", "go_molecular_function": "GO:0008499 N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity;GO:0047273 galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:0006688 glycosphingolipid biosynthetic process;GO:0009101 glycoprotein biosynthetic process;GO:0009312 oligosaccharide biosynthetic process;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "O75752-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T5P2-1", "uniprot_id": "SKT_HUMAN", "mass": 214116.0, "length": 1943, "protein_name": "Sickle tail protein homolog", "gene_name": "KIAA1217", "organism": "Human", "refseq_name": "sickle tail protein homolog isoform 2", "refseq_ac": "NP_001091970", "gene_names_uniprotkb": "KIAA1217; SKT", "gene_names_refseq": "ETL4; KIAA1217; SKT", "protein_names_uniprotkb": "Sickle tail protein homolog", "protein_names_refseq": "likely orthologue of Mus musculus enhancer trap locus 4; sickle tail protein homolog isoform 2; sickle tail protein homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:56243)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "11237011;15951569;17389395;18212344;18669648;18767875;19338451;19413330;19651622;19664994;20068231;20166139;22107760;23186163;24275569;25418920;25576301;25645385;25892735;26154972;26638075;26929215;27846572;27862975;28510447;28657654;28904123;29557506;30315122;30379171;30429286;30620550;30833945;31154438;31217245;31222486;31492838;31844290;31848261;32157095;32161166;32357974;32369272;32387766;32488085;32938616;33141586;33276377;33298915;33592498;33717175;33912179;33968037;33981976;34087483;34171305;34211107;34509645;34725712;34932366;35008530;35051231;35318648;35513511;35561310;35580925;36010968;36284347;38311218", "class_list": "", "function": "Genetic polymorphism of KIAA1217 is functionally associated with lumbar disc herniation in the Chinese population., [RefSeq, PubMed]; KIAA1217 Promotes Epithelial-Mesenchymal Transition and Hepatocellular Carcinoma Metastasis by Interacting with and Activating STAT3. Publication Status: Online-Only, [RefSeq, PubMed]; KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations., [RefSeq, PubMed]; Required for normal development of intervertebral disks., [UniProtKB, UniProtKB]; SKT is involved in the etiology of intervertebral disc degeneration among young adults. Publication Status: Online-Only, [RefSeq, PubMed]; Using tag SNPs, we examined the association in two independent Japanese case-control populations and found a significant association of lumbar herniation with SKT rs16924573 in the allele frequency model GeneRIF: Observational study and meta-analysis 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": 1, "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": 31, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 61, "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": "A5LHW9;A6NLF3;A6PVQ5;A6PVQ6;A6PVQ7;B9EGK4;Q4KMG4;Q5T5P3;Q5T7H3;Q6MZZ6;Q6ZUI4;Q8WV45;Q9NSR2;Q9ULK3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005856 cytoskeleton", "go_biological_process": "GO:0048706 embryonic skeletal system development", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q5T5P2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N4B1-1", "uniprot_id": "SESQ1_HUMAN", "mass": 27215.0, "length": 249, "protein_name": "Sesquipedalian-1", "gene_name": "PHETA1", "organism": "Human", "refseq_name": "sesquipedalian-1 isoform 1", "refseq_ac": "NP_001171467", "gene_names_uniprotkb": "PHETA1; FAM109A", "gene_names_refseq": "FAM109A; IPIP27A; PHETA1; SES1", "protein_names_uniprotkb": "Sesquipedalian-1; 27 kDa inositol polyphosphate phosphatase-interacting protein A; IPIP27A; PH domain-containing endocytic trafficking adaptor 1; Ses1", "protein_names_refseq": "27 kDa inositol polyphosphate phosphatase-interacting protein A; family with sequence similarity 109 member A; protein FAM109A; sesquipedalian-1 isoform 1; sesquipedalian-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:144717)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;20133602;21233288;21666675;23186163;26811146;32152089;33968037;34509645;35051231", "class_list": "", "function": "Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a protein that localizes to the endosome and interacts with the enzyme, inositol polyphosphate 5-phosphatase OCRL-1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]., [RefSeq]; Two closely related endocytic proteins, Ses1 and Ses2, which interact with OCRL, were identified. The interaction is mediated by a short amino acid motif similar to that used by the rab-5 effector APPL1., [RefSeq, PubMed]; Two novel OCRL1-binding proteins, termed inositol polyphosphate phosphatase interacting protein of 27 kDa (IPIP27)A and B (also known as Ses1 and 2), that also bind the related 5-phosphatase Inpp5b, were identified., [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": 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": "J3KP50;Q6PJL9;Q96MH8", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0055037 recycling endosome;GO:0030136 clathrin-coated vesicle;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0007032 endosome organization;GO:0001881 receptor recycling;GO:0042147 retrograde transport, endosome to Golgi", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8N4B1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2F8-1", "uniprot_id": "SI1L2_HUMAN", "mass": 190438.0, "length": 1722, "protein_name": "Signal-induced proliferation-associated 1-like protein 2", "gene_name": "SIPA1L2", "organism": "Human", "refseq_name": "signal-induced proliferation-associated 1-like protein 2 isoform 1", "refseq_ac": "NP_065859", "gene_names_uniprotkb": "SIPA1L2; KIAA1389", "gene_names_refseq": "SIPA1L2; SPAL2; SPAR2", "protein_names_uniprotkb": "Signal-induced proliferation-associated 1-like protein 2; SIPA1-like protein 2", "protein_names_refseq": "SIPA1-like protein 2; SPA-1-like 2; signal-induced proliferation-associated 1-like protein 2 isoform 1; signal-induced proliferation-associated 1-like protein 2; spine-associated RapGAP 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57568)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15144186;15570572;17081983;18220336;18452278;18491316;18669648;19369195;19413330;19664994;19664995;19690332;20068231;20602751;23481700;25418920;25469497;25645385;26375851;26992070;29557506;30429286;30620550;30706531;31154438;31217245;31844290;32157095;32502341;32938616;32983136;33141586;33968037;34171305;35051231;35318648", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; SIPA1L2 is a potential genetic modifier of CMT1A phenotypic expressions., [RefSeq, PubMed]; This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain with a leucine zipper. A similar protein in rat acts as a GTPases for the small GTPase Rap. [provided by RefSeq, Sep 2015]., [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": 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": 66, "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": "Q2TV88;Q5VXR7;Q5VXR8;Q641Q4;Q8NA38;Q96DZ3;Q9H9F6", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0098928 presynaptic signal transduction", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9P2F8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P53618-1", "uniprot_id": "COPB_HUMAN", "mass": 107142.0, "length": 953, "protein_name": "Coatomer subunit beta", "gene_name": "COPB1", "organism": "Human", "refseq_name": "coatomer subunit beta", "refseq_ac": "NP_001137533", "gene_names_uniprotkb": "COPB1; COPB; MSTP026", "gene_names_refseq": "BARMACS; COPB1; COPB", "protein_names_uniprotkb": "Coatomer subunit beta; Beta-COP; Beta-coat protein", "protein_names_refseq": "COPI coat complex subunit beta 1; beta coat protein; beta-cop; coatomer protein complex subunit beta 1; coatomer subunit beta", "tax_id": 9606, "disease": "complement component 2 deficiency (Disease Ontology:DOID:0060295); age related macular degeneration 14 (Disease Ontology:DOID:0110026); Alzheimer's disease (Disease Ontology:DOID:10652); macular degeneration (Disease Ontology:DOID:4448); psoriasis (Disease Ontology:DOID:8893); systemic lupus erythematosus (Disease Ontology:DOID:9074); Baralle-Macken syndrome (MONDO:MONDO:0031002)", "pathway": " (hsa:1315); (R-HSA-6798695); (R-HSA-6807878); (R-HSA-6811434)", "pathway_count": 4, "publication_count": 231, "publication_id_list": "10052452;10318838;10445031;10559959;10679020;10761932;10903204;10921873;11035033;11056392;11172815;11230166;11237011;11285137;11306556;11461920;11493604;11520457;11689559;11703931;11726511;11739780;11748249;12047556;12070132;12388752;12582157;12634853;14504276;14654841;14742712;15029241;15037235;15272311;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16408927;16571679;16633337;16723730;1680566;16912714;16926190;16940185;17113389;17253781;17274799;17360540;17429068;17451557;17760859;17927562;17956946;18086915;18182008;18283113;18287528;18356299;18385291;18491316;18524849;18556652;18725938;18809720;1898986;18991276;19015319;19109418;19151722;19164740;19296914;19364919;19369418;1957170;19631211;19758564;20005805;20056612;20068231;20136777;20357002;20362547;20427317;20462495;20534429;20637885;21219331;21550981;21689688;21844168;21993680;22013193;22094269;22223895;22304919;23301498;23396477;23481700;23650620;23783831;23839779;24119662;24714562;24806965;25364732;25436559;25492864;25502872;25576301;25645385;25810538;25892735;26154972;26375851;26728094;26992070;27452731;27600516;27846572;27862975;27920218;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30352685;30397120;30429286;30484775;30524438;30573663;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;32986658;33141586;33298915;33592498;33632302;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34211107;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35138101;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37938771;38665916;7573041;7691276;7844144;7982906;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8692836;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9671725;9751720;9990005", "class_list": "", "function": "An integrative pan-cancer analysis of COPB1 based on data mining., [RefSeq, PubMed]; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors. Plays a functional role in facilitating the transport of kappa-type opioid receptor mRNAs into axons and enhances translation of these proteins. Required for limiting lipid storage in lipid droplets. Involved in lipid homeostasis by regulating the presence of perilipin family members PLIN2 and PLIN3 at the lipid droplet surface and promoting the association of adipocyte surface triglyceride lipase (PNPLA2) with the lipid droplet to mediate lipolysis (By similarity). Involved in the Golgi disassembly and reassembly processes during cell cycle. Involved in autophagy by playing a role in early endosome function. Plays a role in organellar compartmentalization of secretory compartments including endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC), Golgi, trans-Golgi network (TGN) and recycling endosomes, and in biosynthetic transport of CAV1. Promotes degradation of Nef cellular targets CD4 and MHC class I antigens by facilitating their trafficking to degradative compartments., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [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": 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": 10, "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": "D3DQX0;Q6GTT7;Q9NTK2;Q9UNW7", "ec_number_list": "", "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005798 Golgi-associated vesicle;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0006891 intra-Golgi vesicle-mediated transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 23.4, "record_id": "P53618-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96LC7-1", "uniprot_id": "SIG10_HUMAN", "mass": 76592.0, "length": 697, "protein_name": "Sialic acid-binding Ig-like lectin 10", "gene_name": "SIGLEC10", "organism": "Human", "refseq_name": "sialic acid-binding Ig-like lectin 10 isoform 8 precursor", "refseq_ac": "NP_001309034", "gene_names_uniprotkb": "SIGLEC10; PRO940; SLG2", "gene_names_refseq": "PRO940; SIGLEC-10; SIGLEC10; SLG2", "protein_names_uniprotkb": "Sialic acid-binding Ig-like lectin 10; Siglec-10; Siglec-like protein 2", "protein_names_refseq": "sialic acid binding Ig-like lectin 10 Ig-like lectin 7; sialic acid-binding Ig-like lectin 10 isoform 8 precursor; siglec-like gene 2; siglec-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:89790); (R-HSA-198933)", "pathway_count": 2, "publication_count": 134, "publication_id_list": "10499918;10746781;11237011;11265639;11284738;11358961;11409878;11489943;11513152;11556966;11733002;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12163025;12213321;12483297;12588680;12975309;14702039;14719373;14970179;15034010;15057824;15136729;15155468;15187158;15304001;15489334;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;17672918;18031695;18037897;18055229;18209062;18234675;18593354;18767875;19149696;19264983;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23481700;23695528;23929856;24190977;24305946;25450598;25502872;25505266;25703557;25716998;26284469;26300885;26992070;27846572;27920218;28832583;28834231;28904123;29242379;29314611;29508533;29786170;30573663;31154438;31367043;31844290;31848261;31998317;32046870;32350084;32502341;32765491;32790899;32915505;32938616;32983136;33043033;33123756;33141586;33298915;33717175;34357683;35051231;35251023;36188429;37074911;37933581;38401023;38423652;39209455;39562538;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "glycogene", "function": "Gene expression patterns of CRYM and SIGLEC10 in Alzheimer's disease: potential early diagnostic indicators. Publication Status: Online-Only, [RefSeq, PubMed]; High Expression and Significance of Siglec10/CD24 in Unexplained Missed Abortion., [RefSeq, PubMed]; Identification of Siglec-10 as a new dendritic cell checkpoint for cervical cancer immunotherapy. Publication Status: Online-Only, [RefSeq, PubMed]; Long-Term Elevated Siglec-10 in Cerebral Spinal Fluid Heralds Better Prognosis for Patients with Aneurysmal Subarachnoid Hemorrhage. Publication Status: Online-Only, [RefSeq, PubMed]; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- or alpha-2,6-linked sialic acid (By similarity). The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, seems to act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules (PubMed:11284738, PubMed:12163025). Involved in negative regulation of B-cell antigen receptor signaling. The inhibition of B cell activation is dependent on PTPN6/SHP-1 (By similarity). In association with CD24 may be involved in the selective suppression of the immune response to danger-associated molecular patterns (DAMPs) such as HMGB1, HSP70 and HSP90 (By similarity). In association with CD24 may regulate the immune repsonse of natural killer (NK) cells (PubMed:25450598). Plays a role in the control of autoimmunity (By similarity). During initiation of adaptive immune responses by CD8-alpha(+) dendritic cells inhibits cross-presentation by impairing the formation of MHC class I-peptide complexes. The function seems to implicate recruitment of PTPN6/SHP-1, which dephosphorylates NCF1 of the NADPH oxidase complex consequently promoting phagosomal acidification (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; SIGLECs are members of the immunoglobulin superfamily that are expressed on the cell surface. Most SIGLECs have 1 or more cytoplasmic immune receptor tyrosine-based inhibitory motifs, or ITIMs. SIGLECs are typically expressed on cells of the innate immune system, with the exception of the B-cell expressed SIGLEC6 (MIM 604405).[supplied by OMIM, Jul 2002]., [RefSeq]; Siglec10 Expression on Tumor-associated Macrophages Is an Independent Prognostic Factor in Stage I Lung Adenocarcinoma., [RefSeq, PubMed]; The apparent occurrence of an unusual TG 3' splice site in intron 11 is discussed, [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": 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": 10, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 965, "reported_interactions": 0, "missing_score": 9803, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A8K1I5;A8K3C7;C9JJ33;C9JM10;F8W917;Q3MIR5;Q6UXI8;Q96G54;Q96LC8", "ec_number_list": "", "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0042169 SH2 domain binding;GO:0033691 sialic acid binding;GO:0019902 phosphatase binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0007155 cell adhesion;GO:0045087 innate immune response;GO:0002250 adaptive immune response;GO:0106015 negative regulation of inflammatory response to wounding", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q96LC7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15382-1", "uniprot_id": "BCAT2_HUMAN", "mass": 44288.0, "length": 392, "protein_name": "Branched-chain-amino-acid aminotransferase, mitochondrial", "gene_name": "BCAT2", "organism": "Human", "refseq_name": "branched-chain-amino-acid aminotransferase, mitochondrial isoform b", "refseq_ac": "NP_001158245", "gene_names_uniprotkb": "BCAT2; BCATM; BCT2; ECA40", "gene_names_refseq": "BCAM; BCAT2; BCATM; BCT2; HVLI; PP18", "protein_names_uniprotkb": "Branched-chain-amino-acid aminotransferase, mitochondrial; 2.6.1.42; BCAT(m); PP18; Placental protein 18", "protein_names_refseq": "branched chain amino-acid transaminase 2, mitochondrial; branched chain aminotransferase 2, mitochondrial; branched-chain-amino-acid aminotransferase, mitochondrial isoform b; placental protein 18", "tax_id": 9606, "disease": "hypervalinemia and hyperleucine-isoleucinemia (Disease Ontology:DOID:0060950); amino acid metabolic disorder (Disease Ontology:DOID:9252); maple syrup urine disease (Disease Ontology:DOID:9269)", "pathway": " (hsa:587); (R-HSA-70895)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "10832746;10947204;11013134;11170829;11181649;11237011;11264579;11406611;11738050;12269802;12359132;12434311;12696021;13416257;14752098;15166214;1527093;15342248;15576032;16023992;16141215;17050531;17371050;19608861;20068231;22291014;22956686;23485643;24449431;24714562;25653144;26154972;26251176;26992070;27846572;27920218;28218747;28514659;28681360;28832583;28834231;29242379;29508533;29557506;29632711;30315122;30410026;3082934;31177572;31435015;31844290;32157095;32161166;32387766;32488085;32938616;33691108;33912179;33968037;34357683;34932366;35051231;35154160;35561310;35580925;3597357;36010968;37801083;37926361;6928646;7356336;8702755;8824301;9165094;9214289;9889013", "class_list": "", "function": "BCAT2 promotes melanoma progression by activating lipogenesis via the epigenetic regulation of FASN and ACLY expressions. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine (PubMed:17050531, PubMed:25653144, PubMed:8702755). Branched chain amino acid catabolism plays a role in adipocyte differentiation by providing lipogenic acetyl-CoA pools in differentiated adipocytes (By similarity). Mechanistically, acetyl-CoA derived from branched chain amino acid catabolism is used by EP300/p300 to acetylate and inhibit PRDM16, thereby preventing adipose tissue browning (By similarity). May also function as a transporter of branched chain alpha-keto acids (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Deficiency of BCAT2-mediated branched-chain amino acid catabolism promotes colorectal cancer development., [RefSeq, PubMed]; This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2RB87;O00269;Q96KG1;Q9BTB6;Q9BUU6", "ec_number_list": "2.6.1.42", "go_molecular_function": "GO:0004084 branched-chain-amino-acid transaminase activity;GO:0052654 L-leucine-2-oxoglutarate transaminase activity;GO:0052655 L-valine-2-oxoglutarate transaminase activity;GO:0052656 L-isoleucine-2-oxoglutarate transaminase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0050873 brown fat cell differentiation;GO:0097009 energy homeostasis;GO:0009083 branched-chain amino acid catabolic process;GO:0009082 branched-chain amino acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "O15382-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H106-1", "uniprot_id": "SIRPD_HUMAN", "mass": 21687.0, "length": 197, "protein_name": "Signal-regulatory protein delta", "gene_name": "SIRPD", "organism": "Human", "refseq_name": "signal-regulatory protein delta isoform 1 precursor", "refseq_ac": "NP_848555", "gene_names_uniprotkb": "SIRPD; PTPNS1L2", "gene_names_refseq": "PTPNS1L2; SIRPD; dJ576H24.4", "protein_names_uniprotkb": "Signal-regulatory protein delta; Protein tyrosine phosphatase non-receptor type substrate 1-like 2; SIRP-delta", "protein_names_refseq": "SIRP-delta; protein tyrosine phosphatase, non-receptor type substrate 1-like 2; signal-regulatory protein delta isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:128646)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;24715725;26154972;27920218;28228285;28254787;28832583;28904123;29393594;29557506;30315122;31154438;31844290;32357974;32387766;32983136;33298915;34171305;35580925", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KS88;Q5TFQ6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9H106-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P48595-1", "uniprot_id": "SPB10_HUMAN", "mass": 45403.0, "length": 397, "protein_name": "Serpin B10", "gene_name": "SERPINB10", "organism": "Human", "refseq_name": "serpin B10", "refseq_ac": "NP_005015", "gene_names_uniprotkb": "SERPINB10; PI10", "gene_names_refseq": "PI-10; PI10; SERPINB10", "protein_names_uniprotkb": "Serpin B10; Bomapin; PI-10; Peptidase inhibitor 10", "protein_names_refseq": "peptidase inhibitor 10; protease inhibitor 10 (ovalbumin type); protease inhibitor 10 (ovalbumin type, bomapin); serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10; serpin B10; serpin peptidase inhibitor, clade B (ovalbumin), member 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:5273); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10196205;10871600;17287340;20433722;23481700;23650620;25802875;25892735;26024233;26154972;26375851;26992070;27846572;27920218;28228285;28514659;28832583;28834231;29242379;29493099;29508533;29557506;29769354;30315122;30382768;31217245;31844290;32387766;32502341;32897882;32983136;33123756;33141586;33392160;34445206;35051231;35526531;35580925;36398030;37938771;7592909;8692836", "class_list": "", "function": "Epithelial SERPINB10 contributes to allergic airway eosinophilic inflammation, at least in part, by regulating the expression of periostin and CCL26., [RefSeq, PubMed]; Increased Expression of SERPINB10 Associated with Postoperative Recurrence in Chronic Rhinosinusitis with Nasal Polyps. Publication Status: Online-Only, [RefSeq, PubMed]; Increased SERPINB10 Expression in Induced Sputum Was Associated with Airway Type 2 Inflammation in Asthma., [RefSeq, PubMed]; Protease inhibitor that may play a role in the regulation of protease activities during hematopoiesis and apoptosis induced by TNF. May regulate protease activities in the cytoplasm and in the nucleus., [UniProtKB, PubMed, PubMed]; SerpinB10, a Serine Protease Inhibitor, Is Implicated in UV-Induced Cellular Response. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the serpin peptidase inhibitor, clade B family and is found in a cluster of other similar genes on chromosome 18. The protein encoded by this gene appears to help control the regulation of protease functions during hematopoiesis. Variations in this gene may increase the risk of prostate cancer. [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": 1, "reported_mutagensis": 2, "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": "Q4VAX4;Q4VAX7", "ec_number_list": "", "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030667 secretory granule membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "P48595-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96HU1-1", "uniprot_id": "SGSM3_HUMAN", "mass": 85354.0, "length": 749, "protein_name": "Small G protein signaling modulator 3", "gene_name": "SGSM3", "organism": "Human", "refseq_name": "small G protein signaling modulator 3 isoform 2", "refseq_ac": "NP_001288778", "gene_names_uniprotkb": "SGSM3; MAP; RABGAPLP; RUTBC3", "gene_names_refseq": "CIP85; MAP; MRT84; RABGAP5; RUSC3; RUTBC3; RabGAP-5; SGSM3; rabGAPLP", "protein_names_uniprotkb": "Small G protein signaling modulator 3; Merlin-associated protein; RUN and TBC1 domain-containing protein 3; Rab-GTPase-activating protein-like protein; RabGAP-5; RabGAPLP", "protein_names_refseq": "RUN and SH3 containing 3; RUN and TBC1 domain containing 3; RUN and TBC1 domain-containing protein 3; merlin binding protein; merlin-associated protein; rab-GTPase-activating protein-like protein; small G protein signaling modulator 3 isoform 2; small G protein signaling modulator 3 protein", "tax_id": 9606, "disease": "intellectual developmental disorder, autosomal recessive 84 (MONDO:MONDO:0980746)", "pathway": " (hsa:27352)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "11237011;15541357;15849434;16086013;17509819;17562788;18477386;18669648;23481700;24715725;25576301;26154972;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29437277;29557506;29632046;29693742;30315122;30484775;31217245;31324691;31844290;32157095;32265295;32357974;32387766;32938616;32983136;33141586;33298915;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34211107;34509645;34932366;35051231;35580925;36010968;36215666;36241641;37833060;39390489", "class_list": "", "function": "Findings support an association between 4-bp ins/del polymorphism in the 3'UTR of SGSM3 and the risk of bladder cancer in an Iranian population., [RefSeq, PubMed]; GTPase-activating protein (GAP) specific for Rab5 small GTPase for which it accelerates the intrinsic GTP hydrolysis rate, thereby controlling trafficking through the early endocytic pathway (PubMed:16086013, PubMed:17562788). May play a cooperative role in NF2-mediated growth suppression of cells., [UniProtKB, PubMed, PubMed, PubMed]; Identification of novel protein SGSM3 which modulates small G protein (RAP and RAB)-mediated signaling pathway., [RefSeq, PubMed]; Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews. Publication Status: Online-Only, [RefSeq, PubMed]; MAP decreased the AP-1-dependent promoter activity additively with merlin in NIH3T3 cells.Results suggest that MAP may play a cooperative role in the merlin-mediated growth suppression of 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": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 9, "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": "B0QY79;Q7Z709;Q9NT69", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005921 gap junction", "go_biological_process": "GO:0032483 regulation of Rab protein signal transduction;GO:0032486 Rap protein signal transduction;GO:0030100 regulation of endocytosis;GO:0043547 positive regulation of GTPase activity;GO:0016197 endosomal transport", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q96HU1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q4G0N8-1", "uniprot_id": "SL9C1_HUMAN", "mass": 135206.0, "length": 1177, "protein_name": "Solute carrier family 9 member C1", "gene_name": "SLC9C1", "organism": "Human", "refseq_name": "solute carrier family 9 member C1 isoform 2", "refseq_ac": "NP_001307460", "gene_names_uniprotkb": "SLC9C1; SLC9A10", "gene_names_refseq": "NHE-10; NHE; SLC9A10; SLC9C1; sperm-NHE", "protein_names_uniprotkb": "Solute carrier family 9 member C1; NHE-10; Na(+)/H(+) exchanger 10; Sodium/hydrogen exchanger 10; Solute carrier family 9 member 10; Sperm-specific Na(+)/H(+) exchanger; sNHE", "protein_names_refseq": "sodium/hydrogen exchanger 10; solute carrier family 9 member C1 isoform 2; solute carrier family 9, member 10; solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1; sperm-specific Na(+)/H(+) exchanger; sperm-specific sodium proton exchanger", "tax_id": 9606, "disease": "", "pathway": " (hsa:285335); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;11182090;11237011;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12783626;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22773952;22946059;2298749;23000155;23112050;2321095;23616951;2536303;26359375;26562072;28071645;28154142;28790369;29557506;29786170;31092671;33462806;35051231;35580925;37669933;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Sperm-specific solute carrier involved in intracellular pH regulation of spermatozoa. Required for sperm motility and fertility. Involved in sperm cell hyperactivation, a step needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for the expression and bicarbonate regulation of the soluble adenylyl cyclase (sAC) (By similarity)., [UniProtKB, UniProtKB]; The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility., [RefSeq, PubMed]; This review outlines the contribution of NHE to chronic complications of diabetes mellitus, such as diabetic nephropathy; diabetic cardiomyopathy.[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": 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": "Q6ZRP4;Q7RTP2", "ec_number_list": "", "go_molecular_function": "GO:0015385 sodium:proton antiporter activity;GO:0015386 potassium:proton antiporter activity;GO:0005216 monoatomic ion channel activity;GO:0015297 antiporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031514 motile cilium;GO:0016020 membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0051453 regulation of intracellular pH;GO:0071805 potassium ion transmembrane transport;GO:0098719 sodium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q4G0N8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O76090-1", "uniprot_id": "BEST1_HUMAN", "mass": 67684.0, "length": 585, "protein_name": "Bestrophin-1", "gene_name": "BEST1", "organism": "Human", "refseq_name": "bestrophin-1 isoform 2", "refseq_ac": "NP_001132915", "gene_names_uniprotkb": "BEST1; VMD2", "gene_names_refseq": "ARB; BEST1; BEST; BMD; Best1V1Delta2; RP50; TU15B; VMD2", "protein_names_uniprotkb": "Bestrophin-1; TU15B; Vitelliform macular dystrophy protein 2", "protein_names_refseq": "Best disease; bestrophin-1 isoform 2; vitelliform macular dystrophy protein 2", "tax_id": 9606, "disease": "vitelliform macular dystrophy (Disease Ontology:DOID:0050661); bestrophinopathy (Disease Ontology:DOID:0050662); retinitis pigmentosa 50 (Disease Ontology:DOID:0110396); autosomal dominant vitreoretinochoroidopathy (Disease Ontology:DOID:0111569); macular degeneration (Disease Ontology:DOID:4448)", "pathway": " (hsa:7439); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 126, "publication_id_list": "10331951;10394929;10453731;10564087;10642508;10682987;10720933;10766140;10767424;10798642;10830164;10831588;10854112;11182090;11237011;11241846;11449320;11588175;11687798;11734858;11842292;11904445;11956057;12187431;12324875;12393854;12907679;13129869;1379744;14517959;14584882;14634667;15010458;15044642;15147738;15176385;15318163;15452077;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17110374;17381423;17448995;17699613;17881003;18000046;18063579;18179881;18310267;18400985;18449189;18508966;18662336;18724360;18766995;19153159;19307298;19357557;19380724;19387438;19620632;19635817;19808995;19853238;19953639;20388639;20466723;20525693;20538786;21040849;21330666;21527911;21984732;22002868;22773952;22946059;2298749;23112050;2321095;23616951;2536303;25645385;26200502;26359375;26562072;26720466;27600516;28071645;28154142;28790369;29121962;29557506;31154438;31844290;31848261;32157095;33123756;34509645;35051231;35789156;37717827;37747403;39277606;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy., [RefSeq, PubMed]; Forms calcium-sensitive chloride channels. Permeable to bicarbonate., [UniProtKB, UniProtKB, UniProtKB]; GAD65 tunes the functions of Best1 as a GABA receptor and a neurotransmitter conducting channel. Publication Status: Online-Only, [RefSeq, PubMed]; Ligand-gated anion channel that allows the movement of anions across cell membranes when activated by calcium (Ca2+) (PubMed:11904445, PubMed:12907679, PubMed:18179881, PubMed:18400985, PubMed:19853238, PubMed:21330666, PubMed:26200502, PubMed:26720466, PubMed:35789156). Allows the movement of chloride and hydrogencarbonate (PubMed:11904445, PubMed:12907679, PubMed:18179881, PubMed:18400985, PubMed:19853238, PubMed:21330666, PubMed:26200502, PubMed:26720466, PubMed:35789156). Found in a partially open conformation leading to significantly smaller chloride movement (PubMed:35789156). Upon F2R/PAR-1 activation, the sequestered calcium is released into the cytosol of astrocytes, leading to the (Ca2+)-dependent release of L-glutamate into the synaptic cleft that targets the neuronal postsynaptic GRIN2A/NMDAR receptor resulting in the synaptic plasticity regulation (By similarity). Upon activation of the norepinephrine-alpha-1 adrenergic receptor signaling pathway, transports as well D-serine than L-glutamate in a (Ca2+)-dependent manner, leading to activation of adjacent NMDAR receptors and therefore regulates the heterosynaptic long-term depression and metaplasticity during initial memory acquisition (By similarity). Releases the 4-aminobutanoate neurotransmitter in a (Ca2+)-dependent manner, and participates in its tonic release from cerebellar glial cells (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant., [RefSeq, PubMed]; This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 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": 2, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 19, "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": "A8K0W6;B7Z3J8;B7Z736;O75904;Q53YQ9;Q8IUR9;Q8IZ80", "ec_number_list": "1.8.-.-;1.8.5.1;1.11.1.-;5.6.1.6", "go_molecular_function": "GO:0042802 identical protein binding;GO:0005229 intracellularly calcium-gated chloride channel activity;GO:0005254 chloride channel activity;GO:0015106 bicarbonate transmembrane transporter activity;GO:0022834 ligand-gated channel activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0034707 chloride channel complex", "go_biological_process": "GO:0051259 protein complex oligomerization;GO:0034220 monoatomic ion transmembrane transport;GO:0048167 regulation of synaptic plasticity;GO:0007601 visual perception;GO:0006821 chloride transport", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "O76090-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96GA7-1", "uniprot_id": "SDSL_HUMAN", "mass": 34674.0, "length": 329, "protein_name": "Serine dehydratase-like", "gene_name": "SDSL", "organism": "Human", "refseq_name": "serine dehydratase-like", "refseq_ac": "NP_001291922", "gene_names_uniprotkb": "SDSL", "gene_names_refseq": "SDH 2; SDHL; SDS-RS1; SDSL; cSDH", "protein_names_uniprotkb": "Serine dehydratase-like; 4.3.1.17; 4.3.1.19; 5.1.1.3; Cancerous serine dehydratase; Glutamate racemase; L-serine deaminase; L-serine dehydratase/L-threonine deaminase; L-threonine dehydratase; SDH 2; SDHL; Serine dehydratase 2; TDH; cSDH", "protein_names_refseq": "L-serine deaminase; L-serine dehydratase/L-threonine deaminase; L-threonine dehydratase; cancerous serine dehydratase; glutamate racemase; serine dehydratase 2; serine dehydratase related sequence 1; serine dehydratase-like", "tax_id": 9606, "disease": "Down syndrome (Disease Ontology:DOID:14250)", "pathway": " (hsa:113675); (R-HSA-8849175); (R-HSA-977347)", "pathway_count": 3, "publication_count": 38, "publication_id_list": "11054547;11237011;12393813;12633500;15193426;15536068;15689518;16120614;16580895;18342636;19235232;20106978;20306345;20877624;22094463;22223895;23386433;23481700;25975565;26416733;26703715;26992070;27600516;28834231;28904123;29557506;29786170;30192525;30315122;32157095;32350084;32387766;32488085;32938616;34171305;34509645;35251023;9188776", "class_list": "", "function": "Catalyzes the pyridoxal-phosphate-dependent dehydrative deamination of L-threonine and L-serine to ammonia and alpha-ketobutyrate and pyruvate, respectively (PubMed:16580895, PubMed:18342636). Also exhibits racemase activity towards L-glutamate and D-glutamate (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The crystal structure of SDSL has been determined. Site-directed mutagenesis studies suggest that having a glycine at residue 72 of SDSL is the major reason for the reduction of its catalytic activity, in comparison with the liver enzyme (SDS)., [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": 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": "", "ec_number_list": "4.3.1.17;4.3.1.19;5.1.1.3;4.3.1.18;5.1.1.18", "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0042802 identical protein binding;GO:0003941 L-serine ammonia-lyase activity;GO:0004794 threonine deaminase activity;GO:0008881 glutamate racemase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006567 L-threonine catabolic process;GO:0006565 L-serine catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q96GA7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BVH7-1", "uniprot_id": "SIA7E_HUMAN", "mass": 38443.0, "length": 336, "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "gene_name": "ST6GALNAC5", "organism": "Human", "refseq_name": "alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 isoform 1", "refseq_ac": "NP_112227", "gene_names_uniprotkb": "ST6GALNAC5; SIAT7E", "gene_names_refseq": "SIAT7-E; SIAT7E; ST6GALNAC5; ST6GalNAcV", "protein_names_uniprotkb": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5; 2.4.99.-; GD1 alpha synthase; GalNAc alpha-2,6-sialyltransferase V; SIAT7-E; ST6GalNAc V; ST6GalNAcV; Sialyltransferase 7E", "protein_names_refseq": "GD1 alpha synthase; GalNAc alpha-2,6-sialyltransferase V; ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5; ST6 GalNAc alpha-2,6-sialyltransferase 5; ST6 neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5; ST6GalNAc V; alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 isoform 1; alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5; alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase V; alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase E; sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1, 3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E; sialyltransferase 7E", "tax_id": 9606, "disease": "", "pathway": " (hsa:81849); (R-HSA-4085001); (R-HSA-9840309)", "pathway_count": 3, "publication_count": 86, "publication_id_list": "10191093;10206952;10330343;10334995;10405317;10431835;10504389;10536037;10581036;10601645;10742600;10748143;10749855;10861246;10947946;10993897;11018043;11062056;11237011;11279095;11283017;11528398;11602804;11751519;11916006;11956206;12177386;12222957;12235148;12473780;12603328;12668675;12743242;12815231;12888565;14962670;15136692;15213228;15501818;15576474;1601877;16147865;16237198;16934889;17123352;1756715;18632803;19797320;20547865;21081508;2118655;22692205;22735313;23290777;23481700;23746551;23882130;24399302;24498430;25576301;29242379;29802621;3136930;34211107;34982351;35051231;7252518;7559389;7876235;7890749;8333853;8591035;8611500;8631981;8643456;8830034;8910600;8920913;8985184;9010752;9030544;9125199;9199191;9582303;9822625;9826427", "class_list": "glycogene;glycosyltransferase", "function": "Predominantly catalyzes the biosynthesis of ganglioside GD1alpha from GM1b in the brain, by transferring the sialyl group (N-acetyl-alpha-neuraminyl or NeuAc) from CMP-NeuAc to the GalNAc residue on the NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc sequence of GM1b (PubMed:12668675). GD1alpha is a critical molecule in the communication and interaction between neuronal cells and their supportive cells, particularly in brain tissues, and functions as an adhesion molecule in the process of metastasis (By similarity). Also shows activity towards sialyl Lc4Cer (N-acetyl-alpha-neuraminosyl-(2->3)-beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-N-acyl-sphing-4-enine) generating disialyl Lc4Cer, which can lead to the synthesis of disialyl Lewis a (Le(a)), suggested to be a cancer-associated antigen (PubMed:12668675)., [UniProtKB, UniProtKB, PubMed]; Sequence data from combined Iranian and US controls and CAD affected individuals provided evidence consistent with potential role of ST6GALNAC5 in coronary artery disease Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a Golgi type II transmembrane glycosyltransferase. The encoded protein catalyzes the transfer of sialic acid to cell surface proteins to modulate cell-cell interactions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 496, "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": "B1AK82", "ec_number_list": "2.4.3.7;2.4.99.-;2.4.3.3", "go_molecular_function": "GO:0008373 sialyltransferase activity;GO:0001665 alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:0006688 glycosphingolipid biosynthetic process;GO:0009101 glycoprotein biosynthetic process;GO:0009311 oligosaccharide metabolic process;GO:0009312 oligosaccharide biosynthetic process;GO:0001574 ganglioside biosynthetic process", "synthesized_glycan_count": 550, "hit_score": 8.7, "record_id": "Q9BVH7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NWX6-1", "uniprot_id": "THG1_HUMAN", "mass": 34831.0, "length": 298, "protein_name": "Probable tRNA(His) guanylyltransferase", "gene_name": "THG1L", "organism": "Human", "refseq_name": "probable tRNA(His) guanylyltransferase isoform 2", "refseq_ac": "NP_001304753", "gene_names_uniprotkb": "THG1L; ICF45", "gene_names_refseq": "ICF45; IHG-1; IHG1; SCAR28; THG1L; THG1; hTHG1", "protein_names_uniprotkb": "Probable tRNA(His) guanylyltransferase; 2.7.7.79; IHG-1; Induced in high glucose-1; Interphase cytoplasmic foci protein 45; tRNA-histidine guanylyltransferase", "protein_names_refseq": "induced by high glucose-1; induced in high glucose-1; interphase cytoplasmic foci protein 45; probable tRNA(His) guanylyltransferase isoform 2; probable tRNA(His) guanylyltransferase", "tax_id": 9606, "disease": "autosomal recessive cerebellar ataxia (Disease Ontology:DOID:0050950); autosomal recessive spinocerebellar ataxia 28 (Disease Ontology:DOID:0070409); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:54974); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10430867;10982862;11027153;11111046;11230166;11237011;12403464;15459185;15861136;15870694;15994936;16043508;16424344;17071714;18508967;18567810;19017811;19414587;20068231;20123966;20308323;20354154;20584901;21059936;21078997;21131277;22344696;22591353;22995836;23042678;23048041;23381944;23481700;23604283;24126054;24204302;24715725;24901367;25008184;25261850;25404562;25576301;25892735;25916855;26154972;26160102;26310293;26992070;27055666;27307223;27846572;27920218;28063628;28218747;28228285;28832583;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29769354;29786170;30214071;30379171;30779550;30833945;31168944;31481669;31844290;32161166;32265295;32357974;32387766;32502341;32938616;33141586;33298915;33592498;33682303;33717175;33758037;33912179;33936100;33981976;34171305;34211107;36107775;36241641;36581221;36610787;40596516;9430663;9851972", "class_list": "", "function": "Adds a GMP to the 5'-end of tRNA(His) after transcription and RNase P cleavage. This step is essential for proper recognition of the tRNA and for the fidelity of protein synthesis (Probable). Also functions as a guanyl-nucleotide exchange factor/GEF for the MFN1 and MFN2 mitofusins thereby regulating mitochondrial fusion (PubMed:25008184, PubMed:27307223). By regulating both mitochondrial dynamics and bioenergetic function, it contributes to cell survival following oxidative stress (PubMed:25008184, PubMed:27307223)., [UniProtKB, PubMed, PubMed, PubMed]; Analysis of GTP addition in the reverse (3'-5') direction by human tRNA(His) guanylyltransferase., [RefSeq, PubMed]; Human Thg1 displays tRNA-inducible GTPase activity. Erratum:[Nucleic Acids Res. 2022 Nov 11;50(20):11992. doi: 10.1093/nar/gkac1057. PMID: 36305790], [RefSeq, PubMed]; ICF45 is a highly conserved novel protein, which is expressed in a cell cycle-dependent manner and seemed to be involved in cell cycle progression and cell proliferation, [RefSeq, PubMed]; Induced in high glucose-1 (IHG-1)which increases in diabetic nephropathy, may enhance the actions of TGF-beta1 and contribute to the development of tubulointerstitial fibrosis, [RefSeq, PubMed]; Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population., [RefSeq, PubMed]; The catalytic domain of Thg1 shares both a common architecture and a two-metal ion-dependent mechanism with canonical 5'-3' DNA polymerases., [RefSeq, PubMed]; The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of this protein is that of a guanyltransferase, adding GMP to the 5' end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [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": 2, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 8, "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": "D3DQJ5;Q53G12;Q7L5R3;Q9H0S2", "ec_number_list": "2.7.7.79", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0042802 identical protein binding;GO:0000049 tRNA binding", "go_cellular_component": "GO:1990234 transferase complex;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol", "go_biological_process": "GO:1990046 stress-induced mitochondrial fusion;GO:0006979 response to oxidative stress;GO:0008033 tRNA processing;GO:0051289 protein homotetramerization;GO:0006400 tRNA modification", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q9NWX6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H7B4-1", "uniprot_id": "SMYD3_HUMAN", "mass": 49097.0, "length": 428, "protein_name": "Histone-lysine N-methyltransferase SMYD3", "gene_name": "SMYD3", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase SMYD3 isoform 1", "refseq_ac": "NP_001161212", "gene_names_uniprotkb": "SMYD3; ZMYND1; ZNFN3A1", "gene_names_refseq": "KMT3E; SMYD3; ZMYND1; ZNFN3A1; bA74P14.1", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase SMYD3; 2.1.1.354; SET and MYND domain-containing protein 3; Zinc finger MYND domain-containing protein 1", "protein_names_refseq": "SET and MYND domain-containing protein 3; histone-lysine N-methyltransferase SMYD3 isoform 1; histone-lysine N-methyltransferase SMYD3; zinc finger MYND domain-containing protein 1; zinc finger protein, subfamily 3A (MYND domain containing), 1; zinc finger, MYND domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:64754); (R-HSA-3214841)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10949293;11237011;11959841;12123582;12130538;12453418;12540855;12670868;14536086;14690610;14992727;15145825;15235609;15964846;16081583;16118227;16155568;16199523;16292313;16441421;16519522;16682010;16805913;17021013;17500065;17544230;17707229;18172012;19808676;21131967;21196496;21779408;21832073;22099308;22419068;22898188;22939622;23186163;24715725;25576301;25738358;26154972;26992070;28218747;28228285;28904123;29242379;29393594;29437277;29769354;30315122;30379171;31530632;31844290;31937595;32157095;32488085;32502341;32938616;33141586;33205017;33298915;33392160;33592498;33717175;33912179;33968037;34019948;34211107;34932366;35051231;35580925;37463106;38037054;38148333;38664231;39225541", "class_list": "", "function": "Enhanced SMYD3 expression is associated with growth of breast cancer, [RefSeq, PubMed]; Histone methyltransferase. Specifically methylates 'Lys-4' of histone H3, inducing di- and tri-methylation, but not monomethylation (PubMed:15235609, PubMed:22419068). Also methylates 'Lys-5' of histone H4 (PubMed:22419068). Plays an important role in transcriptional activation as a member of an RNA polymerase complex (PubMed:15235609). Binds DNA containing 5'-CCCTCC-3' or 5'-GAGGGG-3' sequences (PubMed:15235609)., [UniProtKB, PubMed, PubMed]; SMYD3 encodes a histone methyltransferase involved in the proliferation of cancer cells., [RefSeq, PubMed]; SMYD3 represses tumor-intrinsic interferon response in HPV-negative squamous cell carcinoma of the head and neck., [RefSeq, PubMed]; SMYD3-NY is a novel transcript variant of the SMYD3 gene, and SMYD3-NY protein may influence transcriptional regulation during spermatogenesis via HTMase activity, [RefSeq, PubMed]; SMYD3: a new regulator of adipocyte precursor proliferation at the early steps of differentiation., [RefSeq, PubMed]; THAP3 recruits SMYD3 to OXPHOS genes and epigenetically promotes mitochondrial respiration in hepatocellular carcinoma., [RefSeq, PubMed]; The SMYD3-dependent H3K4me3 status of IGF2 intensifies local Th2 differentiation in CRSwNP via positive feedback. Publication Status: Online-Only, [RefSeq, PubMed]; The common variable number of tandem repeats polymorphism in SMYD3 is a susceptibility factor for some types of human cancer., [RefSeq, PubMed]; This gene encodes a histone methyltransferase which functions in RNA polymerase II complexes by an interaction with a specific RNA helicase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]; ZNF8 Orchestrates with Smad3 to Promote Lung Metastasis by Recruiting SMYD3 in 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": 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": 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": "A8K0P0;B1AN38;Q86TL8;Q8N5Z6;Q96AI5", "ec_number_list": "2.1.1.364;2.1.1.-;2.1.1.362;2.1.1.361;2.1.1.85;2.1.1.354;2.1.1.370;2.1.1.371;2.1.1.359;2.1.1.355", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000993 RNA polymerase II complex binding;GO:0001162 RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding;GO:0140954 histone H3K36 dimethyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0007507 heart development;GO:0045892 negative regulation of DNA-templated transcription;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q9H7B4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q68D06-1", "uniprot_id": "SLN13_HUMAN", "mass": 102045.0, "length": 897, "protein_name": "Schlafen family member 13", "gene_name": "SLFN13", "organism": "Human", "refseq_name": "schlafen family member 13", "refseq_ac": "NP_653283", "gene_names_uniprotkb": "SLFN13", "gene_names_refseq": "SLFN10; SLFN13; hSLFN13", "protein_names_uniprotkb": "Schlafen family member 13; 3.1.-.-; Schlafen-13; hSLFN13", "protein_names_refseq": "schlafen family member 13; schlafen-13", "tax_id": 9606, "disease": "", "pathway": " (hsa:146857)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;22544926;24366607;25576301;26992070;27846572;28904123;29437277;29557506;29563550;30410026;30429286;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34405274;34509645;34932366;35051231;35580925;36010968;36284347;39894887", "class_list": "", "function": "Endoribonuclease that cleaves tRNAs and rRNAs (PubMed:29563550). Cleaves tRNAs 11 nucleotides from the 3'-terminus at the acceptor stem (PubMed:29563550). Does not act on tRNA(Sec) (PubMed:29563550). Able to restrict HIV-1 virus replication; ability to inhibit HIV-1 replication is dependent on endoribonuclease activity (PubMed:29563550)., [UniProtKB, PubMed]; The cytoplasmically localized SLFN13 inhibits protein synthesis in 293T cells and restricts HIV replication in a nucleolytic activity-dependent manner. 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": 3, "reported_glycation": 0, "reported_snv": 9, "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": "E1P645;Q658M1;Q6ZS51;Q96A81", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0016787 hydrolase activity;GO:0000049 tRNA binding;GO:0004521 RNA endonuclease activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0016078 tRNA decay;GO:0051607 defense response to virus;GO:0016075 rRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q68D06-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96P15-1", "uniprot_id": "SPB11_HUMAN", "mass": 44092.0, "length": 392, "protein_name": "Serpin B11", "gene_name": "SERPINB11", "organism": "Human", "refseq_name": "serpin B11 isoform a", "refseq_ac": "NP_536723", "gene_names_uniprotkb": "SERPINB11", "gene_names_refseq": "EPIPIN; SERPIN11; SERPINB11", "protein_names_uniprotkb": "Serpin B11", "protein_names_refseq": "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11; serpin B11 isoform a; serpin B11; serpin peptidase inhibitor, clade B (ovalbumin), member 11", "tax_id": 9606, "disease": "familial encephalopathy with neuroserpin inclusion bodies (Disease Ontology:DOID:0050831); alpha 1-antitrypsin deficiency (Disease Ontology:DOID:13372)", "pathway": " (hsa:89778)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;17322306;17562709;22289513;22393410", "class_list": "", "function": "Has no serine protease inhibitory activity, probably due to variants in the scaffold impairing conformational change., [UniProtKB, PubMed]; SERPINB11 has a role in ovarian endometrioid carcinoma in chickens and human, [RefSeq, PubMed]; SERPINB11 is a gene under selection on standing variation, with roles in host-pathogen interactions, [RefSeq, PubMed]; SERPINB11 is a new noninhibitory intracellular serpin, [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": 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": "A8K9R0;Q5Q120;Q5Q121;Q5Q122;Q5Q123;Q6ISD3;Q96P13;Q96P14", "ec_number_list": "", "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q96P15-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQ25-1", "uniprot_id": "SLAF7_HUMAN", "mass": 37421.0, "length": 335, "protein_name": "SLAM family member 7", "gene_name": "SLAMF7", "organism": "Human", "refseq_name": "SLAM family member 7 isoform b precursor", "refseq_ac": "NP_001269517", "gene_names_uniprotkb": "SLAMF7; CS1; PRO1138", "gene_names_refseq": "19A; CD319; CRACC; CS1; SLAMF7", "protein_names_uniprotkb": "SLAM family member 7; CD2 subset 1; CD2-like receptor-activating cytotoxic cells; CRACC; Membrane protein FOAP-12; Novel Ly9; Protein 19A", "protein_names_refseq": "19A24 protein; CD2 subset 1; CD2-like receptor activating cytotoxic cells; SLAM family member 7 isoform b precursor; membrane protein FOAP-12; novel LY9 (lymphocyte antigen 9) like protein; protein 19A", "tax_id": 9606, "disease": "", "pathway": " (hsa:57823); (R-HSA-198933)", "pathway_count": 2, "publication_count": 138, "publication_id_list": "10499918;10746781;11220635;11237011;11265639;11489943;11513152;11556966;11698418;11802771;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12242590;12483297;12588680;12975309;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15340161;15368295;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16339536;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;19901323;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23929856;23956418;24190977;24305946;24935722;25469497;25502872;25505266;25703557;25716998;25892735;26284469;26300885;26375851;27846572;27920218;28063628;28218747;28228285;28832583;29089645;29242379;29508533;29557506;29632046;29769354;29786170;30315122;30410026;31217245;31428094;31844290;32157095;32350084;32983136;33043033;33633747;33691108;33912179;33936100;33968037;34078123;34357683;34433824;34509645;34561969;35051231;35148199;35154160;36199066;36381324;37074911;37420084;37754488;37938771;39894887;40914422;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "CS1-L and CS1-S may differentially regulate human NK cell functions, [RefSeq, PubMed]; Identification and elucidation of cross talk between SLAM Family Member 7 (SLAMF7) and Toll-like receptor (TLR) pathways in monocytes and macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; Isoform 3 does not mediate any NK cell activation., [UniProtKB]; SLAMF7 as a Promising Immunotherapeutic Target in Multiple Myeloma Treatments. Review article Publication Status: Online-Only, [RefSeq, PubMed]; SLAMF7 engagement superactivates macrophages in acute and chronic inflammation., [RefSeq, PubMed]; SLAMF7 modulates B cells and adaptive immunity to regulate susceptibility to CNS autoimmunity. Publication Status: Online-Only, [RefSeq, PubMed]; Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Isoform 1 mediates NK cell activation through a SH2D1A-independent extracellular signal-regulated ERK-mediated pathway (PubMed:11698418). Positively regulates NK cell functions by a mechanism dependent on phosphorylated SH2D1B. Downstream signaling implicates PLCG1, PLCG2 and PI3K (PubMed:16339536). In addition to heterotypic NK cells-target cells interactions also homotypic interactions between NK cells may contribute to activation. However, in the absence of SH2D1B, inhibits NK cell function. Also acts inhibitory in T-cells (By similarity). May play a role in lymphocyte adhesion (PubMed:11802771). In LPS-activated monocytes negatively regulates production of pro-inflammatory cytokines (PubMed:23695528)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, PubMed]", "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": 4, "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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "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": "A8K3U1;B4DPU4;B4DPY3;B4DWA3;Q8N6Y8;Q8ND32;Q9NY08;Q9NY23", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006955 immune response;GO:0007155 cell adhesion;GO:0042110 T cell activation;GO:0002250 adaptive immune response;GO:0030101 natural killer cell activation", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "Q9NQ25-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00192-1", "uniprot_id": "ARVC_HUMAN", "mass": 104642.0, "length": 962, "protein_name": "Splicing regulator ARVCF", "gene_name": "ARVCF", "organism": "Human", "refseq_name": "splicing regulator ARVCF isoform 1", "refseq_ac": "NP_001661", "gene_names_uniprotkb": "ARVCF", "gene_names_refseq": "ARVCF", "protein_names_uniprotkb": "Splicing regulator ARVCF; Armadillo repeat protein deleted in velo-cardio-facial syndrome", "protein_names_refseq": "armadillo repeat gene deleted in velocardiofacial syndrome; armadillo repeat protein deleted in velo-cardio-facial syndrome; splicing regulator ARVCF isoform 1; splicing regulator ARVCF", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); DiGeorge syndrome (Disease Ontology:DOID:11198)", "pathway": " (hsa:421)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "10.1101/2023.09.13.557529;10725230;11237011;15345747;18477386;18669648;19664994;19664995;19690332;19706687;20068231;22898188;23186163;24275569;24644279;25009281;25645385;25683624;28904123;29034528;29242379;29557506;30479852;30524438;31827232;32387766;32502341;32938616;33537174;33912179;33981976;34171305;34405274;35051231;36010968;36215666;37938771;9126485", "class_list": "", "function": "Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010]., [RefSeq]; Contributes to the regulation of alternative splicing of pre-mRNAs., [UniProtKB, PubMed]; Observed ARVCF-dependent changes in small GTPase (mainly RhoA) activity in lung cancer cells. We confirmed that ARVCF plays an important role in the malignant phenotype, [RefSeq, PubMed]; P53-induced ARVCF modulates the splicing landscape and supports the tumor suppressive function of p53., [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": 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": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "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": "B7WNV2", "ec_number_list": "", "go_molecular_function": "GO:0045296 cadherin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0030054 cell junction", "go_biological_process": "GO:0006397 mRNA processing;GO:0007155 cell adhesion;GO:0098609 cell-cell adhesion;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "O00192-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NKC9-1", "uniprot_id": "SH2D7_HUMAN", "mass": 49807.0, "length": 451, "protein_name": "SH2 domain-containing protein 7", "gene_name": "SH2D7", "organism": "Human", "refseq_name": "SH2 domain-containing protein 7", "refseq_ac": "NP_001094874", "gene_names_uniprotkb": "SH2D7", "gene_names_refseq": "SH2D7", "protein_names_uniprotkb": "SH2 domain-containing protein 7", "protein_names_refseq": "Putative SH2 domain-containing protein LOC646892; SH2 domain-containing protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:646892)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;28467828;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": 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:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A6NKC9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43581-1", "uniprot_id": "SYT7_HUMAN", "mass": 45501.0, "length": 403, "protein_name": "Synaptotagmin-7", "gene_name": "SYT7", "organism": "Human", "refseq_name": "synaptotagmin-7 isoform 1", "refseq_ac": "NP_001238994", "gene_names_uniprotkb": "SYT7; PCANAP7", "gene_names_refseq": "IPCA-7; IPCA7; PCANAP7; SYT-VII; SYT7; SYTVII", "protein_names_uniprotkb": "Synaptotagmin-7; IPCA-7; Prostate cancer-associated protein 7; Synaptotagmin VII; SytVII", "protein_names_refseq": "prostate cancer-associated protein 7; synaptotagmin VII; synaptotagmin-7 isoform 1", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:9066); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "11237011;11342594;11604393;12071850;15540461;15811535;16242404;16624946;16846852;17897391;18812509;18829961;20064387;20064388;20519524;21282647;22966849;25378172;25437758;26216970;26322740;26333120;30379171;30410026;31154438;33229564;35073278;37217939;37774826;39235072;7695896;7736595;8576240;9069287;9615227;9808458;9927700", "class_list": "", "function": "Ca(2+) sensor involved in Ca(2+)-dependent exocytosis of secretory and synaptic vesicles through Ca(2+) and phospholipid binding to the C2 domain (By similarity). Ca(2+) induces binding of the C2-domains to phospholipid membranes and to assembled SNARE-complexes; both actions contribute to triggering exocytosis (By similarity). SYT7 binds Ca(2+) with high affinity and slow kinetics compared to other synaptotagmins (By similarity). Involved in Ca(2+)-triggered lysosomal exocytosis, a major component of the plasma membrane repair (PubMed:11342594). Ca(2+)-regulated delivery of lysosomal membranes to the cell surface is also involved in the phagocytic uptake of particles by macrophages (By similarity). Ca(2+)-triggered lysosomal exocytosis also plays a role in bone remodeling by regulating secretory pathways in osteoclasts and osteoblasts (By similarity). In case of infection, involved in participates cell invasion by Trypanosoma cruzi via Ca(2+)-triggered lysosomal exocytosis (PubMed:11342594, PubMed:15811535). Involved in cholesterol transport from lysosome to peroxisome by promoting membrane contacts between lysosomes and peroxisomes: probably acts by promoting vesicle fusion by binding phosphatidylinositol-4,5-bisphosphate on peroxisomal membranes (By similarity). Acts as a key mediator of synaptic facilitation, a process also named short-term synaptic potentiation: synaptic facilitation takes place at synapses with a low initial release probability and is caused by influx of Ca(2+) into the axon terminal after spike generation, increasing the release probability of neurotransmitters (By similarity). Probably mediates synaptic facilitation by directly increasing the probability of release (By similarity). May also contribute to synaptic facilitation by regulating synaptic vesicle replenishment, a process required to ensure that synaptic vesicles are ready for the arrival of the next action potential: SYT7 is required for synaptic vesicle replenishment by acting as a sensor for Ca(2+) and by forming a complex with calmodulin (By similarity). Also acts as a regulator of Ca(2+)-dependent insulin and glucagon secretion in beta-cells (By similarity). Triggers exocytosis by promoting fusion pore opening and fusion pore expansion in chromaffin cells (By similarity). Also regulates the secretion of some non-synaptic secretory granules of specialized cells (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB]; Identified the conserved alternative splicing events in the spacer domain of Syt VII; also shown that Syt VIIa-GFP is mainly localized in the perinuclear region and tips of neurites (dense-core vesicles), and not in the plasma membrane, [RefSeq, PubMed]; SYT7 is a key player in increasing exosome secretion and promoting angiogenesis in non-small-cell lung cancer., [RefSeq, PubMed]; SYT7 plays a role in promoting thyroid cancer by mediating HMGB3 ubiquitination. Publication Status: Online-Only, [RefSeq, PubMed]; Synaptotagmin-7 deficiency induces mania-like behavioral abnormalities through attenuating GluN2B activity. Erratum:[Proc Natl Acad Sci U S A. 2021 Aug 10;118(32):e2111933118. doi: 10.1073/pnas.2111933118. PMID: 34341124], [RefSeq, PubMed]; The 8-oxoguanine DNA glycosylase-synaptotagmin 7 pathway increases extracellular vesicle release and promotes tumour metastasis during oxidative stress., [RefSeq, PubMed]; This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. A similar protein in rodents mediates hormone secretion and lysosome exocytosis. In humans, expression of this gene has been associated with prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed 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": 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": 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": "F5GZC2;F5GZU9;F5H126;F5H1N2;F5H6C1;Q08AH6", "ec_number_list": "", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0005509 calcium ion binding;GO:0019905 syntaxin binding;GO:0005544 calcium-dependent phospholipid binding", "go_cellular_component": "GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030424 axon", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0006909 phagocytosis;GO:0050796 regulation of insulin secretion;GO:0016192 vesicle-mediated transport;GO:0045956 positive regulation of calcium ion-dependent exocytosis", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "O43581-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y286-1", "uniprot_id": "SIGL7_HUMAN", "mass": 51143.0, "length": 467, "protein_name": "Sialic acid-binding Ig-like lectin 7", "gene_name": "SIGLEC7", "organism": "Human", "refseq_name": "sialic acid-binding Ig-like lectin 7 isoform 3 precursor", "refseq_ac": "NP_001264130", "gene_names_uniprotkb": "SIGLEC7; AIRM1", "gene_names_refseq": "AIRM-1; AIRM1; CD328; CDw328; D-siglec; QA79; SIGLEC-7; SIGLEC19P; SIGLEC7; SIGLECP2; p75/AIRM1; p75", "protein_names_uniprotkb": "Sialic acid-binding Ig-like lectin 7; AIRM-1; Adhesion inhibitory receptor molecule 1; CDw328; D-siglec; QA79 membrane protein; Siglec-7; p75", "protein_names_refseq": "QA79 membrane protein; adhesion inhibitory receptor molecule 1, siglec-7; sialic acid binding immunoglobulin-like lectin 7; sialic acid-binding Ig-like lectin 7 isoform 3 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:27036); (R-HSA-198933)", "pathway_count": 2, "publication_count": 110, "publication_id_list": "10499918;10514511;10567377;10611343;10746781;10764831;11231274;11237011;11265639;11389909;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12438315;12483297;12588680;14719373;14747738;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16623661;16737824;16754721;16893496;16895906;16904340;16928187;16959974;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;19901323;20166139;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24275569;24305946;25703557;25716998;26284469;26300885;29557506;31848261;32457377;32513821;32983136;33043033;33248687;33495350;33640457;35051231;35526487;35580925;36211376;36700509;37217939;38141764;39211050;7531291;7542404;8178173;8188688;8995416;9285412;9314561;9700512;9730896", "class_list": "glycogene", "function": "High expression of SIGLEC7 may promote M2-type macrophage polarization leading to adverse prognosis in glioma patients. Publication Status: Online-Only, [RefSeq, PubMed]; Histone deacetylation-regulated cell surface Siglec-7 expression promoted megakaryocytic maturation and enhanced platelet-like particle release., [RefSeq, PubMed]; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- and alpha-2,6-linked sialic acid. Also binds disialogangliosides (disialogalactosyl globoside, disialyl lactotetraosylceramide and disialyl GalNAc lactotetraoslylceramide). The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, may act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules. Mediates inhibition of natural killer cells cytotoxicity. May play a role in hemopoiesis. Inhibits differentiation of CD34+ cell precursors towards myelomonocytic cell lineage and proliferation of leukemic myeloid cells (in vitro)., [UniProtKB, PubMed]; Regulation of Siglec-7-mediated varicella-zoster virus infection of primary monocytes by cis-ligands., [RefSeq, PubMed]; Siglec-7 represents a glyco-immune checkpoint for non-exhausted effector memory CD8+ T cells with high functional and metabolic capacities. Publication Status: Online-Only, [RefSeq, PubMed]; The glycoimmune checkpoint receptor Siglec-7 interacts with T-cell ligands and regulates T-cell activation., [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": 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": 3, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 625, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 33, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q9NZQ1;Q9UJ86;Q9UJ87;Q9Y502", "ec_number_list": "", "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0033691 sialic acid binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q9Y286-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96L92-1", "uniprot_id": "SNX27_HUMAN", "mass": 61265.0, "length": 541, "protein_name": "Sorting nexin-27", "gene_name": "SNX27", "organism": "Human", "refseq_name": "sorting nexin-27 isoform 1", "refseq_ac": "NP_001317652", "gene_names_uniprotkb": "SNX27; KIAA0488; My014", "gene_names_refseq": "MRT1; MY014; SNX27", "protein_names_uniprotkb": "Sorting nexin-27", "protein_names_refseq": "methamphetamine-responsive transcript 1; sorting nexin family member 27; sorting nexin-27 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:81609)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "11237011;15466885;17351151;17577583;17644068;18991276;19555689;20068231;20733053;21300787;21303929;21602791;21926430;22411990;23186163;23301498;23563491;25418920;25851603;25880248;26811146;27920218;28446606;28510447;28832583;28904123;29242379;29393594;29557506;29632046;29632711;29786170;30429286;30779550;31154438;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32938616;32983136;33298915;33592498;33717175;33912179;33936100;33968037;34087483;34171305;34229054;34357683;34405274;34509645;34725712;35051231;35154160;35251023;35580925;36010968;36215666;36241641;36284347;36326272;38874360;39128090", "class_list": "", "function": "Circular RNA SNX27 Facilitates Gastric Cancer Progression By Sponging miR-638., [RefSeq, PubMed]; HPV-18 E6 enhances the interaction between EMILIN2 and SNX27 to promote WNT signaling., [RefSeq, PubMed]; HPV-18E6 Inhibits Interactions between TANC2 and SNX27 in a PBM-Dependent Manner and Promotes Increased Cell Proliferation., [RefSeq, PubMed]; Involved in the retrograde transport from endosome to plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins. Following internalization, endocytosed transmembrane proteins are delivered to early endosomes and recycled to the plasma membrane instead of being degraded in lysosomes. SNX27 specifically binds and directs sorting of a subset of transmembrane proteins containing a PDZ-binding motif at the C-terminus: following interaction with target transmembrane proteins, associates with the retromer complex, preventing entry into the lysosomal pathway, and promotes retromer-tubule based plasma membrane recycling. SNX27 also binds with the WASH complex. Interacts with membranes containing phosphatidylinositol-3-phosphate (PtdIns(3P)). May participate in establishment of natural killer cell polarity. Recruits CYTIP to early endosomes., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SNX27a redirects part of the 5-HT4(a)R to early endosomes., [RefSeq, PubMed]; These data support a previously unreported role for diacylglycerol kinase zeta in the modulation of membrane trafficking, which may also help to define SNX27 function., [RefSeq, PubMed]; These results suggest that endosomal SNX27 may recruit CASP to orchestrate intracellular trafficking and/or signaling complexes., [RefSeq, PubMed]; This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [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": 1, "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": "Q32Q36;Q4AEJ5;Q5VWB0;Q5VWB1;Q5VWB2;Q6IPP6;Q86UB1;Q96D79;Q9H3K8", "ec_number_list": "", "go_molecular_function": "GO:0032266 phosphatidylinositol-3-phosphate binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098837 postsynaptic recycling endosome;GO:0005768 endosome;GO:0005769 early endosome;GO:0005829 cytosol", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0007165 signal transduction;GO:0008333 endosome to lysosome transport;GO:0016197 endosomal transport;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q96L92-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NDZ2-1", "uniprot_id": "SIMC1_HUMAN", "mass": 96838.0, "length": 872, "protein_name": "SUMO-interacting motif-containing protein 1", "gene_name": "SIMC1", "organism": "Human", "refseq_name": "SUMO-interacting motif-containing protein 1 isoform a", "refseq_ac": "NP_001295124", "gene_names_uniprotkb": "SIMC1; C5orf25; PLEIAD", "gene_names_refseq": "C5orf25; OOMA1; PLEIAD; SIMC1", "protein_names_uniprotkb": "SUMO-interacting motif-containing protein 1; Platform element for inhibition of autolytic degradation", "protein_names_refseq": "SUMO-interacting motif-containing protein 1 isoform a; SUMO-interacting motif-containing protein 1; oocyte maturation associated 1; platform element for inhibition of autolytic degradation", "tax_id": 9606, "disease": "", "pathway": " (hsa:375484)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "15144186;17525332;23086935;23301498;23707407;25576301;25880248;26154972;26992070;27846572;27920218;28218747;28228285;28446606;28832583;28834231;28904123;29242379;29393594;29557506;29632711;29786170;30315122;30379171;31092671;31844290;32157095;32357974;32897882;32983136;33141586;33298915;33912179;33936100;33968037;33981976;34171305;35051231;36241641;36373674", "class_list": "", "function": "Authors found that PLEIAD also interacts with CTBP1 (C-terminal binding protein 1), a transcriptional co-regulator, and CTBP1 is proteolyzed in COS7 cells expressing CAPN3., [RefSeq, PubMed]; Inhibits the protease activity of CAPN3., [UniProtKB, PubMed]; Plays a role in SMC5-SMC6 complex recruitment for viral restriction. Forms a complex with SLF2 and this complex is required to recruit SMC5-SMC6 complex to PML nuclear bodies and sites of viral replication., [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": 4, "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": "F6R0L0;J3KQQ8;Q6NXN8;Q6ZTU4;Q8IZ15;R9TJD7", "ec_number_list": "", "go_molecular_function": "GO:0030414 peptidase inhibitor activity;GO:0032184 SUMO polymer binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0030017 sarcomere;GO:0016605 PML body", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q8NDZ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z5N4-1", "uniprot_id": "SDK1_HUMAN", "mass": 242112.0, "length": 2213, "protein_name": "Protein sidekick-1", "gene_name": "SDK1", "organism": "Human", "refseq_name": "protein sidekick-1 isoform 1", "refseq_ac": "NP_689957", "gene_names_uniprotkb": "SDK1", "gene_names_refseq": "SDK1", "protein_names_uniprotkb": "Protein sidekick-1", "protein_names_refseq": "protein sidekick-1 isoform 1; protein sidekick-1; sidekick homolog 1, cell adhesion molecule", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:221935); (R-HSA-373756)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12230981;15213259;17307840;19664994;19851296;20562105;23827383;24190977;25645385;25880248;26154972;26463840;27862975;28218747;28228285;29557506;29769354;30410026;31092671;31844290;32157095;32161166;32387766;32502341;32938616;32983136;33968037;33981976;35051231;35494241;37074911;37217939;37524447;39531497", "class_list": "", "function": "Adhesion molecule that promotes lamina-specific synaptic connections in the retina. Expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions., [UniProtKB, UniProtKB]; Case-control studies reveal malignant mesothelioma risk associated with variants in the SDK1, CRTAM and RASGRF2 genes., [RefSeq, PubMed]; Data conclude that the up-regulation of sdk-1 in podocytes is an important pathogenic factor in glomerulosclerosis and that the mechanism involves disruption of the actin cytoskeleton possibly via alterations in MAGI-1 function., [RefSeq, PubMed]; Dysregulation of sdk-1 protein may play an important role in HIV-associated nephropathy pathogenesis, [RefSeq, PubMed]; Novel loci for ocular axial length identified through extreme-phenotype genome-wide association study in Chinese populations. Publication Status: Online-Only, [RefSeq, PubMed]; SDK1 could possibly serve as a candidate gene for alterations associated with asbestos exposure., [RefSeq, PubMed]; SDK1 may be a susceptibility gene for hypertension in Japanese individuals, although the functional relevance of the identified polymorphism was not determined. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]., [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": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "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": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 172, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 1, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "Q8TEN9;Q8TEP5;Q96N44", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse", "go_biological_process": "GO:0007416 synapse assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0010842 retina layer formation;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q7Z5N4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BTV4-1", "uniprot_id": "TMM43_HUMAN", "mass": 44876.0, "length": 400, "protein_name": "Transmembrane protein 43", "gene_name": "TMEM43", "organism": "Human", "refseq_name": "transmembrane protein 43 isoform 1", "refseq_ac": "NP_077310", "gene_names_uniprotkb": "TMEM43; PRO6244", "gene_names_refseq": "ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA; TMEM43", "protein_names_uniprotkb": "Transmembrane protein 43; Protein LUMA", "protein_names_refseq": "transmembrane protein 43 isoform 1", "tax_id": 9606, "disease": "arrhythmogenic right ventricular cardiomyopathy (Disease Ontology:DOID:0050431); autosomal dominant Emery-Dreifuss muscular dystrophy 7 (Disease Ontology:DOID:0070252); arrhythmogenic right ventricular dysplasia 5 (Disease Ontology:DOID:0110074); autosomal dominant auditory neuropathy 3 (Disease Ontology:DOID:0112373)", "pathway": " (hsa:79188)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "10.1101/2023.09.13.557529;11230166;11237011;12975309;16303743;18230648;18313022;20068231;20112406;21391237;23481700;24190977;24616531;24714562;24715725;25418920;25576301;25645385;25732826;25880248;26154972;26375851;26728094;26768311;26811146;26929215;26992070;27600516;27846572;27862975;27920218;27991920;28063628;28832583;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29786170;30429286;30484775;30524438;31611695;31844290;32157095;32265295;32387766;32502341;32614325;32897882;32938616;32983136;33141586;33214551;33392160;33592498;33968037;33981976;34050020;34087483;34171305;34357683;34405274;34509645;34674311;35051231;35251023;35580925;36010968;36076925;36215666;36241641;36284347;37938771;38665916;40914422", "class_list": "", "function": "A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder., [RefSeq, PubMed]; Aberrant accumulation of TMEM43 accompanied by perturbed transmural gene expression in arrhythmogenic cardiomyopathy., [RefSeq, PubMed]; Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish. Publication Status: Online-Only, [RefSeq, PubMed]; LUMA (TMEM43) is a highly conserved protein located to inner nuclear membrane (INM) and interacting with A- and B-type lamins. It is particularly important for anchoring of emerin at the INM and may thus contribute to the pathogenesis of laminopathies., [RefSeq, PubMed]; May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). Plays a role in the modulation of innate immune signaling through the cGAS-STING pathway by interacting with RNF26 (PubMed:32614325). In addition, functions as a critical signaling component in mediating NF-kappa-B activation by acting downstream of EGFR and upstream of CARD10 (PubMed:27991920). Contributes to passive conductance current in cochlear glia-like supporting cells, mediated by gap junctions and necessary for hearing and speech discrimination (PubMed:34050020)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [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": 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": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q7L4N5;Q8NC30;Q96A63;Q96F19;Q96JX0;Q9H076", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0005248 voltage-gated sodium channel activity;GO:0005249 voltage-gated potassium channel activity;GO:0022843 voltage-gated monoatomic cation channel activity", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0005637 nuclear inner membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0045087 innate immune response;GO:0006813 potassium ion transport;GO:0006814 sodium ion transport;GO:0030001 metal ion transport", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q9BTV4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y651-1", "uniprot_id": "SOX21_HUMAN", "mass": 28580.0, "length": 276, "protein_name": "Transcription factor SOX-21", "gene_name": "SOX21", "organism": "Human", "refseq_name": "transcription factor SOX-21", "refseq_ac": "NP_009015", "gene_names_uniprotkb": "SOX21; SOX25; SOXA", "gene_names_refseq": "SOX-A; SOX21; SOX25", "protein_names_uniprotkb": "Transcription factor SOX-21; SOX-A", "protein_names_refseq": "SRY (sex determining region Y)-box 21; SRY-box 21; transcription factor SOX-21", "tax_id": 9606, "disease": "", "pathway": " (hsa:11166)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10441749;1614875;31154438;31217245;31844290;32445320;33402569;34286693;34357683;35051231;36335356;36361852;38665916", "class_list": "", "function": "High potential of SOX21 gene promoter methylation as an epigenetic biomarker for early detection of colorectal cancer., [RefSeq, PubMed]; May play a role as an activator of transcription of OPRM1. Overexpression of SOX21 can up-regulate the OPRM1 distal promoter activity in mor-expressing neuronal cells. May play a role in ameloblast differentiation., [UniProtKB, UniProtKB]; Quantitative detection of SRY-Box 21 (SOX21) gene promoter methylation as a stool-based noninvasive biomarker for early diagnosis of colorectal cancer by MethyLight method., [RefSeq, PubMed]; SOX2 and SOX21 in Lung Epithelial Differentiation and Repair. Review article Publication Status: Online-Only, [RefSeq, PubMed]; SOX21 modulates SOX2-initiated differentiation of epithelial cells in the extrapulmonary airways. Publication Status: Online-Only, [RefSeq, PubMed]; SOX21-AS1 activated by STAT6 promotes pancreatic cancer progression via up-regulation of SOX21. Publication Status: Online-Only, [RefSeq, PubMed]; SRY-related HMG-box (SOX) genes encode a family of DNA-binding proteins containing a 79-amino acid HMG (high mobility group) domain that shares at least 50% sequence identity with the DNA-binding HMG box of the SRY protein (MIM 480000). SOX proteins are divided into 6 subgroups based on sequence similarity within and outside of the HMG domain. For additional background information on SOX genes, see SOX1 (MIM 602148).[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": 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": "P35715;Q15504;Q5TBS1", "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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "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;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0048863 stem cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9Y651-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1B0GU29-1", "uniprot_id": "SIM28_HUMAN", "mass": 16551.0, "length": 152, "protein_name": "Small integral membrane protein 28", "gene_name": "SMIM28", "organism": "Human", "refseq_name": "small integral membrane protein 28", "refseq_ac": "NP_001355092", "gene_names_uniprotkb": "SMIM28", "gene_names_refseq": "SMIM28", "protein_names_uniprotkb": "Small integral membrane protein 28", "protein_names_refseq": "small integral membrane protein 28", "tax_id": 9606, "disease": "", "pathway": " (hsa:110806279)", "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": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A0A1B0GU29-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NJY1-1", "uniprot_id": "SL9P1_HUMAN", "mass": 30828.0, "length": 282, "protein_name": "Putative SLC9B1-like protein SLC9B1P1", "gene_name": "SLC9B1P1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "SLC9B1P1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative SLC9B1-like protein SLC9B1P1; Solute carrier family 9 subfamily B member 1 pseudogene 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "29557506;31844290;32387766;33592498", "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:0015297 antiporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:1902600 proton transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A6NJY1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRP4-1", "uniprot_id": "SDHF3_HUMAN", "mass": 14652.0, "length": 125, "protein_name": "Succinate dehydrogenase assembly factor 3, mitochondrial", "gene_name": "SDHAF3", "organism": "Human", "refseq_name": "succinate dehydrogenase assembly factor 3, mitochondrial precursor", "refseq_ac": "NP_064571", "gene_names_uniprotkb": "SDHAF3; ACN9; DC11", "gene_names_refseq": "ACN9; DC11; LYRM10; SDHAF3; Sdh7", "protein_names_uniprotkb": "Succinate dehydrogenase assembly factor 3, mitochondrial; SDH assembly factor 3; SDHAF3", "protein_names_refseq": "SDH assembly factor 3; protein ACN9 homolog, mitochondrial; succinate dehydrogenase assembly factor 3, mitochondrial precursor; succinate dehydrogenase assembly factor 3, mitochondrial", "tax_id": 9606, "disease": "pheochromocytoma (Disease Ontology:DOID:0050771); paraganglioma (Disease Ontology:DOID:0050773); mitochondrial complex II deficiency (Disease Ontology:DOID:0060537)", "pathway": " (hsa:57001); (R-HSA-9854311)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "11237011;15247478;17923681;18163977;19628817;19913121;20167786;20628086;20877624;22416140;23481700;24954416;24954417;25418920;25821040;26154972;26749241;26811146;26992070;28380382;28391595;28738844;28834231;28887308;29242379;29437277;29557506;29632046;31844290;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33717175;33912179;33968037;34211107;34289383;34509645;9989622", "class_list": "", "function": "ACN9 is involved in the predisposition to alcohol dependence. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, 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]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Promotes maturation of the iron-sulfur protein subunit SDHB of the SDH catalytic dimer, protecting it from the deleterious effects of oxidants. May act together with SDHAF1., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; SDHAF3 interacts directly with SDHB (residue 242 being key to this interaction), and that a variant in SDHAF3 (c.157 T > C [p.Phe53Leu]) may be more prevalent in individuals with familial and sporadic pheochromocytoma and paraganglioma, and is hypomorphic via impaired interaction with SDHB. Publication Status: Online-Only, [RefSeq, PubMed]; Single nucleotide polymorphism in ACN9 gene is associated with alcohol dependence., [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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D1J3;Q75MD6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006111 regulation of gluconeogenesis;GO:0034553 mitochondrial respiratory chain complex II assembly", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9NRP4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VYV7-1", "uniprot_id": "SLX4I_HUMAN", "mass": 45552.0, "length": 408, "protein_name": "Protein SLX4IP", "gene_name": "SLX4IP", "organism": "Human", "refseq_name": "protein SLX4IP", "refseq_ac": "NP_001009608", "gene_names_uniprotkb": "SLX4IP; C20orf94", "gene_names_refseq": "C20orf94; SLX4IP; bA204H22.1; bA254M13.1; dJ1099D15.3", "protein_names_uniprotkb": "Protein SLX4IP; SLX4-interacting protein", "protein_names_refseq": "protein SLX4IP", "tax_id": 9606, "disease": "", "pathway": " (hsa:128710)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;18691976;19596235;23186163;24045615;25755297;26154972;26992070;27600516;27846572;28832583;28834231;28904123;29557506;29632046;29789417;30429286;31447390;31495888;31844290;32071280;32157095;32357974;32488085;33188147;34171305;34932366;35051231;35318648;35580925;36284347;37938771;39894887", "class_list": "", "function": "SLX4IP Promotes Telomere Maintenance in Androgen Receptor-Independent Castration-Resistant Prostate Cancer through ALT-like Telomeric PML Localization., [RefSeq, PubMed]; SLX4IP and telomere dynamics dictate breast cancer metastasis and therapeutic responsiveness. Publication Status: Online-Only, [RefSeq, PubMed]; SLX4IP antagonizes promiscuous BLM Activity during alternative lengthening of telomeres maintenance in osteosarcoma cells., [RefSeq, PubMed]; The association of SLX4IP deletion with male sex suggest that differential illegitimate V(D)J-mediated recombination events contribute to the higher incidence rates of childhood acute lymphoblastic leukemia in boys compared with girls., [RefSeq, PubMed]; The binding of SLX4IP to both SLX4 and XPF-ERCC1 not only is vital for maintaining the stability of SLX4IP protein, but also promotes the interaction between SLX4 and XPF-ERCC1, especially after DNA damage. Collectively, these results demonstrate a new regulatory role for SLX4IP in maintaining an efficient SLX4-XPF-ERCC1 complex in interstrand crosslinks (ICLs) repair., [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": "Q05CG2;Q05CT9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q5VYV7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99835-1", "uniprot_id": "SMO_HUMAN", "mass": 86397.0, "length": 787, "protein_name": "Protein smoothened", "gene_name": "SMO", "organism": "Human", "refseq_name": "protein smoothened precursor", "refseq_ac": "NP_005622", "gene_names_uniprotkb": "SMO; SMOH", "gene_names_refseq": "CRJS; FZD11; Gx; PHLS; SMOH; SMO", "protein_names_uniprotkb": "Protein smoothened; Protein Gx", "protein_names_refseq": "frizzled family member 11; protein Gx; protein smoothened precursor; protein smoothened; seven transmembrane helix receptor; smoothened homolog; smoothened, frizzled family receptor; smoothened, seven transmembrane spanning receptor", "tax_id": 9606, "disease": "primary bacterial infectious disease (Disease Ontology:DOID:0050338); medulloblastoma (Disease Ontology:DOID:0050902); pre-malignant neoplasm (Disease Ontology:DOID:0060071); stomach cancer (Disease Ontology:DOID:10534); pancreatic cancer (Disease Ontology:DOID:1793); colon cancer (Disease Ontology:DOID:219); nevoid basal cell carcinoma syndrome (Disease Ontology:DOID:2512); basal cell carcinoma (Disease Ontology:DOID:2513); middle cerebral artery infarction (Disease Ontology:DOID:3525); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); esophagus adenocarcinoma (Disease Ontology:DOID:4914); pancreatitis (Disease Ontology:DOID:4989); liver cirrhosis (Disease Ontology:DOID:5082); gastric papillary adenocarcinoma (Disease Ontology:DOID:5593); gastric tubular adenocarcinoma (Disease Ontology:DOID:6595); hepatocellular carcinoma (Disease Ontology:DOID:684); hepatoblastoma (Disease Ontology:DOID:687); malignant pleural mesothelioma (Disease Ontology:DOID:7474); Barrett's esophagus (Disease Ontology:DOID:9206); colorectal cancer (Disease Ontology:DOID:9256); ocular hypertension (Disease Ontology:DOID:9282); pulmonary emphysema (Disease Ontology:DOID:9675); Curry-Jones syndrome (MONDO:MONDO:0011134)", "pathway": " (hsa:6608); (R-HSA-373080); (R-HSA-5610787); (R-HSA-5620922); (R-HSA-5632684); (R-HSA-5635838)", "pathway_count": 6, "publication_count": 201, "publication_id_list": "10.1101/2023.09.13.557529;10097073;10433824;10564661;10966113;11027307;11133163;11237011;11252952;11297558;11375483;11960000;12050670;12068298;12098667;12123571;12138125;12192414;12426310;12435627;12559132;14528312;14603322;14611647;14614827;14636583;15087129;15115751;15198976;15258860;15300262;15314642;15498814;15618519;15691767;15930098;16061793;16136078;16155214;16229832;16254602;16311594;16339192;16396903;16421275;16459297;16459298;16493421;16602827;16611981;16630821;16651542;16707575;16740475;16908539;16980583;17027958;17115028;17200122;17442700;17553904;17574030;17641202;17762891;17960137;18327258;18455992;18497258;18801728;18815277;18827223;18832070;19000668;19081074;19196978;19218434;19223390;19286674;19305393;19365551;19368795;19371734;19421068;19533801;19549984;19575670;19592253;19622347;19666503;19684112;19767740;19776033;19818708;19852954;19877275;19878745;19906846;19948480;19955409;19996169;20014402;20016067;20067783;20080638;20154143;20207148;20233871;20360384;20395968;20412786;20460306;20487519;20512148;20603001;20643644;20818436;20844016;20889716;20956384;20966082;2105456;21209331;21356043;21427764;21659505;21695114;21801010;21878643;22007132;22072986;22139371;22231273;22277298;22389062;22391300;22391301;22500027;22981989;22982193;22986504;23026747;23209152;23332756;23351793;23481700;23636324;23719536;23725801;23877428;23955340;24072710;24190977;24296415;24302888;24339784;24582806;24845016;24854174;24859340;24863049;24917297;24925320;24952464;25443296;25446516;27236920;27437577;28082415;28228285;28344083;28513578;29671580;30379171;30459171;31168089;32929279;35658032;35705054;36010968;3616618;36202993;36215666;37830570;38181892;38954185;39138140;6950381;7797535;8082781;8198617;8386612;8397094;8557170;8612563;8732687;8770894;8906787;9064337;9422511;9601642;9874371", "class_list": "", "function": "G protein-coupled receptor, which transduces the smoothened signaling pathway (PubMed:19592253, PubMed:27437577, PubMed:28344083, PubMed:31168089, PubMed:32929279, PubMed:36202993). Activated by cholesterol in response to hedgehog (DHH, IHH or SHH) morphogens (PubMed:27437577, PubMed:28344083, PubMed:32929279). In absence of hedgehog, SMO is inactivated by patched protein (PTCH1 or PTCH2), which prevents SMO access to cholesterol (PubMed:28344083). In response to hedgehog-binding to pathched, inhibition is relieved, promoting SMO translocation to primary cilium and activation by cholesterol: cholesterol causes a conformation change that triggers signaling via G protein G(i), mediating inhibition of adenylate cyclase activity and decreassed production of cAMP (PubMed:28344083, PubMed:31168089). Decreased cAMP levels then inhibit protein kinase A (PKA) and promote release of GLI (GLI1, GLI2 and GLI3) transcription factors, which activate expression of target genes (PubMed:31168089). Active SMO also directly inhibits PKA by sequestering its catalytic subunit, PRKACA, at the cell membrane, preventing PRKACA-mediated phosphorylation and subsequent processing of GLI transcription factors (PubMed:36202993, PubMed:39138140). Active SMO also promotes the removal of GPR161, a key inhibitor of the smoothened signaling pathway, from primary cilia (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; HERC4 modulates ovarian cancer cell proliferation by regulating SMO-elicited hedgehog signaling., [RefSeq, PubMed]; Implicating clinical utility of altered expression of PTCH1 & SMO in oral squamous cell carcinoma., [RefSeq, PubMed]; Increasing Ciliary ARL13B Expression Drives Active and Inhibitor-Resistant Smoothened and GLI into Glioma Primary Cilia. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex. [provided by RefSeq, Jul 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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 20, "reported_glycation": 0, "reported_snv": 113, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 23, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A4D1K5", "ec_number_list": "", "go_molecular_function": "GO:0034236 protein kinase A catalytic subunit binding;GO:0008142 oxysterol binding;GO:0004930 G protein-coupled receptor activity;GO:0004862 cAMP-dependent protein kinase inhibitor activity;GO:0005113 patched binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005929 cilium;GO:0030425 dendrite", "go_biological_process": "GO:0060242 contact inhibition;GO:0003140 determination of left/right asymmetry in lateral mesoderm;GO:0021513 spinal cord dorsal/ventral patterning;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 21.7, "record_id": "Q99835-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NGZ8-1", "uniprot_id": "SMIM9_HUMAN", "mass": 10777.0, "length": 99, "protein_name": "Small integral membrane protein 9", "gene_name": "SMIM9", "organism": "Human", "refseq_name": "small integral membrane protein 9 precursor", "refseq_ac": "NP_001156408", "gene_names_uniprotkb": "SMIM9; CXorf68", "gene_names_refseq": "CXorf68; SMIM9", "protein_names_uniprotkb": "Small integral membrane protein 9", "protein_names_refseq": "small integral membrane protein 9 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:100132963)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "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:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A6NGZ8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NJ88-1", "uniprot_id": "SGE2P_HUMAN", "mass": 69022.0, "length": 616, "protein_name": "Putative SAGE1-like protein", "gene_name": "SAGE2P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "SAGE2P", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative SAGE1-like protein; Sarcoma antigen 2 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "35051231;36215666", "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:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0032039 integrator complex", "go_biological_process": "GO:0034472 snRNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NJ88-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NKU9-1", "uniprot_id": "SPDE3_HUMAN", "mass": 63895.0, "length": 549, "protein_name": "Speedy protein E3", "gene_name": "SPDYE3", "organism": "Human", "refseq_name": "speedy protein E3", "refseq_ac": "NP_001004351", "gene_names_uniprotkb": "SPDYE3", "gene_names_refseq": "SPDYB2; SPDYE3", "protein_names_uniprotkb": "Speedy protein E3", "protein_names_refseq": "Putative WBSCR19-like protein 7; putative Speedy protein E3; speedy homolog E3; speedy protein E3", "tax_id": 9606, "disease": "", "pathway": " (hsa:441272)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "22763696", "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": "Q495Y9;Q6PHC4", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A6NKU9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NMB1-1", "uniprot_id": "SIG16_HUMAN", "mass": 52992.0, "length": 481, "protein_name": "Sialic acid-binding Ig-like lectin 16", "gene_name": "SIGLEC16", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "SIGLEC16; SIGLECP16", "gene_names_refseq": "", "protein_names_uniprotkb": "Sialic acid-binding Ig-like lectin 16; Siglec-16; Siglec-P16", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-2172127)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "10.1101/2023.09.13.557529;10049942;10449773;10604985;10940905;11546777;11602640;11986327;12668644;12776204;14707061;15057824;15265913;15489334;15557162;15884055;15940674;16151003;16623599;16920917;16933987;17012248;17110943;17202323;17483134;17641029;18624290;18629938;19858347;20093094;20865034;20890284;22383531;24190977;28100677;29557506;32350084;32387766;38253038;9490415;9625766;9655483", "class_list": "", "function": "Putative adhesion molecule that mediates sialic-acid dependent binding to cells., [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": 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": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0033691 sialic acid binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0032755 positive regulation of interleukin-6 production;GO:1900426 positive regulation of defense response to bacterium", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "A6NMB1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MU46-1", "uniprot_id": "SMTL1_HUMAN", "mass": 52987.0, "length": 494, "protein_name": "Smoothelin-like protein 1", "gene_name": "SMTNL1", "organism": "Human", "refseq_name": "smoothelin-like protein 1", "refseq_ac": "NP_001099035", "gene_names_uniprotkb": "SMTNL1", "gene_names_refseq": "CHASM; SMTNL1", "protein_names_uniprotkb": "Smoothelin-like protein 1", "protein_names_refseq": "calponin homology-associated smooth muscle protein; smoothelin-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:219537)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "18310078;20634291;21352594;26048986;29557506;32897882;32938616;33968037;34675885;35051231;36215666", "class_list": "", "function": "Plays a role in the regulation of contractile properties of both striated and smooth muscles. When unphosphorylated, may inhibit myosin dephosphorylation. Phosphorylation at Ser-299 reduces this inhibitory activity (By similarity)., [UniProtKB]; Pregnancy promotes switching of skeletal muscle to a glycolytic phenotype through the smoothelin-like protein 1 transcriptional cofactor., [RefSeq, PubMed]; Smoothelin-Like Protein 1 Regulates Development and Metabolic Transformation of Skeletal Muscle in Hyperthyroidism. Publication Status: Online-Only, [RefSeq, PubMed]; The Smtnl1 proximal promoter enhances expression up to 8-fold in smooth muscle cells and a second activating region lays 500 bp further upstream. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is involved in the contraction of both striated and smooth muscle. During pregnancy, the encoded protein interacts with progesterone receptor to attenuate the expression of contractile and metabolic proteins. [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": 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": "E9PPJ3", "ec_number_list": "", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0008157 protein phosphatase 1 binding;GO:0097718 disordered domain specific binding;GO:0005523 tropomyosin binding;GO:0051401 CH domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0031674 I band;GO:0031430 M band;GO:0043292 contractile muscle fiber", "go_biological_process": "GO:0045892 negative regulation of DNA-templated transcription;GO:0030036 actin cytoskeleton organization;GO:0045907 positive regulation of vasoconstriction", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "A8MU46-1", "record_type": "protein" }, { "uniprot_canonical_ac": "B8ZZ34-1", "uniprot_id": "SHSA8_HUMAN", "mass": 41995.0, "length": 397, "protein_name": "Protein shisa-8", "gene_name": "SHISA8", "organism": "Human", "refseq_name": "protein shisa-8 isoform 3 precursor", "refseq_ac": "NP_001193949", "gene_names_uniprotkb": "SHISA8; C22orf17", "gene_names_refseq": "C22orf17; Orf26; SHISA8", "protein_names_uniprotkb": "Protein shisa-8; Shisa family member 8", "protein_names_refseq": "CTA-250D10.17; protein shisa-8 isoform 3 precursor; putative protein shisa-8; shisa homolog 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:440829)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;18477386;29242379;31844290", "class_list": "", "function": "May regulate trafficking and current kinetics of AMPA-type glutamate receptor (AMPAR) at synapses., [UniProtKB, UniProtKB]", "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": 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": "A0A087WXQ4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0014069 postsynaptic density;GO:0045211 postsynaptic membrane;GO:0032281 AMPA glutamate receptor complex;GO:0032591 dendritic spine membrane;GO:0016020 membrane", "go_biological_process": "GO:0048172 regulation of short-term neuronal synaptic plasticity", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "B8ZZ34-1", "record_type": "protein" }, { "uniprot_canonical_ac": "H3BMG3-1", "uniprot_id": "SMKR1_HUMAN", "mass": 7091.0, "length": 65, "protein_name": "Small lysine-rich protein 1", "gene_name": "SMKR1", "organism": "Human", "refseq_name": "small lysine-rich protein 1", "refseq_ac": "NP_001182172", "gene_names_uniprotkb": "SMKR1", "gene_names_refseq": "SMKR1", "protein_names_uniprotkb": "Small lysine-rich protein 1", "protein_names_refseq": "small lysine-rich protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100287482)", "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": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "H3BMG3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95104-1", "uniprot_id": "SCAF4_HUMAN", "mass": 125869.0, "length": 1147, "protein_name": "SR-related and CTD-associated factor 4", "gene_name": "SCAF4", "organism": "Human", "refseq_name": "SR-related and CTD-associated factor 4 isoform 2", "refseq_ac": "NP_001138916", "gene_names_uniprotkb": "SCAF4; KIAA1172; SFRS15", "gene_names_refseq": "FZS; SCAF4; SFRS15; SRA4", "protein_names_uniprotkb": "SR-related and CTD-associated factor 4; CTD-binding SR-like protein RA4; Splicing factor, arginine/serine-rich 15", "protein_names_refseq": "CTD-binding SR-like protein rA4; SR-like CTD-associated factor 4; SR-related and CTD-associated factor 4 isoform 2; pre-mRNA splicing SR protein rA4; splicing factor serine alanine 15; splicing factor, arginine/serine-rich 15", "tax_id": 9606, "disease": "Fliedner-Zweier syndrome (Disease Ontology:DOID:0070653); syndrome (Disease Ontology:DOID:225)", "pathway": " (hsa:57466)", "pathway_count": 1, "publication_count": 100, "publication_id_list": "15302935;17081983;17914031;18452278;18491316;18550522;18669648;19413330;19423540;19608861;19651622;19664995;19690332;19913121;20058876;20068231;21406692;21872626;22645359;23186163;23301498;23481700;24275569;24366607;24714562;24715725;25576301;25645385;26154972;26375851;26728094;26992070;27397612;27600516;27846572;27862975;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30429286;31092671;31104839;31154438;31217245;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32357974;32387766;32488085;32502341;32730804;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34509645;34561969;34897689;35051231;35138101;35289036;35561310;35580925;36010968;36284347;36333968;37394306;37891035;37938771;38665916;39531497;39668183;40596516;40914422;8692929", "class_list": "", "function": "Anti-terminator protein required to prevent early mRNA termination during transcription (PubMed:31104839). Together with SCAF8, acts by suppressing the use of early, alternative poly(A) sites, thereby preventing the accumulation of non-functional truncated proteins (PubMed:31104839). Mechanistically, associates with the phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit (POLR2A), and subsequently binds nascent RNA upstream of early polyadenylation sites to prevent premature mRNA transcript cleavage and polyadenylation (PubMed:31104839). Independently of SCAF8, also acts as a suppressor of transcriptional readthrough (PubMed:31104839)., [UniProtKB, PubMed]; Describes function of the CTD-interacting domain of human SCAF8, human SCAF4, and similar proteins in S. cerevisiae., [RefSeq, PubMed]; Describes identification of rat serine/arginine-rich splicing factors that interact with RNA polymerase II, including rA1, rA4, rA8, and rA9., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed]; SCAF4 variants are associated with epilepsy with neurodevelopmental disorders., [RefSeq, PubMed]; SCAF4 variants associated with focal epilepsy accompanied by multisystem disorders., [RefSeq, PubMed]; Structural basis for the recognition of the S2, S5-phosphorylated RNA polymerase II CTD by the mRNA anti-terminator protein hSCAF4., [RefSeq, PubMed]; This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]., [RefSeq]; Together, SCAF4 and SCAF8 coordinate the transition between elongation and termination, ensuring correct polyA site selection and RNAPII transcriptional termination in human cells., [RefSeq, PubMed]; Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing., [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": 1, "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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "C9JLZ0;Q0P5W8;Q6P1M5;Q8N3I8;Q9UFM1;Q9ULP8", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:1990269 RNA polymerase II C-terminal domain phosphoserine binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:2000805 negative regulation of termination of RNA polymerase II transcription, poly(A)-coupled", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "O95104-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C7P3-1", "uniprot_id": "SLN14_HUMAN", "mass": 103907.0, "length": 912, "protein_name": "Protein SLFN14", "gene_name": "SLFN14", "organism": "Human", "refseq_name": "protein SLFN14", "refseq_ac": "NP_001123292", "gene_names_uniprotkb": "SLFN14", "gene_names_refseq": "BDPLT20; SLFN14", "protein_names_uniprotkb": "Protein SLFN14; Schlafen family member 14", "protein_names_refseq": "protein SLFN14", "tax_id": 9606, "disease": "platelet-type bleeding disorder 20 (Disease Ontology:DOID:0111055)", "pathway": " (hsa:342618)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "20956525;25576336;25996083;26280575;26769223;28228285;28734654;28832583;29557506;30536060;31378119;31844290;32488085;32694106;32983136;35051231;36790527;38675845", "class_list": "", "function": "Displays polysome-associated endoribonuclease activity towards mRNAs and rRNAs (PubMed:25996083). May play a role in RNA surveillance pathways by recognizing stalled ribosomes and triggering endonucleolytic cleavage of aberrant mRNAs (Probable). Cleaves different types of rRNAs and mRNAs in a magnesium- and manganese-dependent and ATP-independent manner (By similarity). Involved in correct maturation of megakaryocytes and especially important for proplatelet extension., [UniProtKB, UniProtKB, PubMed, PubMed]; In a family with three affected individuals we found the c.667C>T variant in SLFN14 predicted to result in the p.Arg223Trp substitution within the ATPase- AAA-4 domain of SLFN14. The variant segregated with macrothrombocytopenia within the pedigree., [RefSeq, PubMed]; Ribosome dysfunction underlies SLFN14-related thrombocytopenia., [RefSeq, PubMed]; SLFN14 gene mutations associated with bleeding. Review article, [RefSeq, PubMed]; Schlafen14 Impairs HIV-1 Expression in a Codon Usage-Dependent Manner. Publication Status: Online-Only, [RefSeq, PubMed]; Shows no ribosome-associated and endoribonuclease activities., [UniProtKB, PubMed]; The mutations of c.1187delT of PCDHGA4 and c.2557insC of SLFN14 may be pathogenic factors contributing to the development of ASD., [RefSeq, PubMed]; The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016]., [RefSeq]; These data suggest that SLFN14 is a novel antiviral factor for both DNA and RNA viruses, [RefSeq, PubMed]; These results identify SLFN14 mutations as cause for an inherited thrombocytopenia with excessive bleeding, outlining a fundamental role for SLFN14 in platelet formation and function., [RefSeq, PubMed]; [SLFN14 inhibits LINE-1 transposition 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RTW9", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0016787 hydrolase activity;GO:0043022 ribosome binding;GO:0004521 RNA endonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006402 mRNA catabolic process;GO:0071286 cellular response to magnesium ion;GO:0071287 cellular response to manganese ion;GO:0016075 rRNA catabolic process;GO:0036345 platelet maturation", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "P0C7P3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DMW3-1", "uniprot_id": "SIML1_HUMAN", "mass": 7391.0, "length": 68, "protein_name": "Small integral membrane protein 10-like protein 1", "gene_name": "SMIM10L1", "organism": "Human", "refseq_name": "small integral membrane protein 10-like protein 1", "refseq_ac": "NP_001258521", "gene_names_uniprotkb": "SMIM10L1", "gene_names_refseq": "SMIM10L1", "protein_names_uniprotkb": "Small integral membrane protein 10-like protein 1", "protein_names_refseq": "chromosome X open reading frame 69-like; small integral membrane protein 10-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100129361)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "23481700;29393594;29632046;29769354;30315122;31154438;31844290;32157095;32265295;33912179;34171305;34509645;35051231;35290761;35580925", "class_list": "", "function": "Small integral membrane protein 10 like 1 downregulation enhances differentiation of adipose progenitor 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A0G2JPJ8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "P0DMW3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DMW5-1", "uniprot_id": "SIL2B_HUMAN", "mass": 8389.0, "length": 78, "protein_name": "Small integral membrane protein 10-like protein 2B", "gene_name": "SMIM10L2B", "organism": "Human", "refseq_name": "small integral membrane protein 10-like protein 2B", "refseq_ac": "NP_001335184", "gene_names_uniprotkb": "SMIM10L2B; LINC00087; NCRNA00087", "gene_names_refseq": "LINC00087; NCRNA00087; SMIM10L2B", "protein_names_uniprotkb": "Small integral membrane protein 10-like protein 2B", "protein_names_refseq": "long intergenic non-protein coding RNA 87; small integral membrane protein 10-like protein 2B", "tax_id": 9606, "disease": "", "pathway": " (hsa:399668); (hsa:644596)", "pathway_count": 2, "publication_count": 2, "publication_id_list": "32357974;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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "P0DMW5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P19634-1", "uniprot_id": "SL9A1_HUMAN", "mass": 90763.0, "length": 815, "protein_name": "Sodium/hydrogen exchanger 1", "gene_name": "SLC9A1", "organism": "Human", "refseq_name": "sodium/hydrogen exchanger 1", "refseq_ac": "NP_003038", "gene_names_uniprotkb": "SLC9A1; APNH1; NHE1", "gene_names_refseq": "APNH; LIKNS; NHE-1; NHE1; PPP1R143; SLC9A1", "protein_names_uniprotkb": "Sodium/hydrogen exchanger 1; APNH; NHE-1; Na(+)/H(+) antiporter, amiloride-sensitive; Na(+)/H(+) exchanger 1; Solute carrier family 9 member 1", "protein_names_refseq": "Na(+)/H(+) exchanger 1; Na-Li countertransporter; protein phosphatase 1, regulatory subunit 143; sodium/hydrogen exchanger 1; solute carrier family 9 (sodium/hydrogen exchanger), member 1 (antiporter, Na+/H+, amiloride sensitive); solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1", "tax_id": 9606, "disease": "autosomal recessive spinocerebellar ataxia 19 (Disease Ontology:DOID:0080065); hypothyroidism (Disease Ontology:DOID:1459); renovascular hypertension (Disease Ontology:DOID:1591); middle cerebral artery infarction (Disease Ontology:DOID:3525); proteinuria (Disease Ontology:DOID:576); congestive heart failure (Disease Ontology:DOID:6000); hyperthyroidism (Disease Ontology:DOID:7998); cataract (Disease Ontology:DOID:83); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:6548); (R-HSA-2160916); (R-HSA-425986)", "pathway_count": 3, "publication_count": 138, "publication_id_list": "10.1101/2023.09.13.557529;10400637;10444453;10713111;10913675;11237011;11279194;11350981;11412833;11532004;11568288;11604491;11696366;11940519;12226101;12809501;12947095;14514708;14680478;15035633;15090545;15096511;15253667;15323573;15503855;15510212;15522866;15677483;16104017;16511206;16710297;17050540;17073455;1712287;17209041;17493937;17525332;18077418;18088087;18578522;18669648;18701649;18707149;18757828;19369449;19415658;19664994;19690332;19765648;20058876;20068231;21392185;21406692;2154036;22020933;22216126;23186163;23481700;23509262;23602949;24275569;25162926;25205112;2536298;25502872;25578862;25830299;26992070;27049728;27083547;27266704;27555478;27650500;27846572;27920218;28218747;28467828;28514659;28832583;28834231;29242379;29437277;29493099;29557506;2971395;29769354;29786170;30237576;30287853;30315122;30379171;30429286;30833945;31020640;31375679;31530632;31844290;32130622;32157095;32161166;32350084;32357974;32387766;32938616;32983136;33298915;33592498;33912179;33968037;34019948;34087483;34108458;34171305;34357683;34433824;3468507;34932366;35051231;35084672;35154160;35251023;35339998;35580925;36010968;36284347;38520980;39118129;7110335;7603840;7631746;8068684;8282124;8283968;8901634;8967452;9688597;9712871;9933641", "class_list": "", "function": "Acidic preconditioning induced intracellular acid adaptation to protect renal injury via dynamic phosphorylation of focal adhesion kinase-dependent activation of sodium hydrogen exchanger 1. Erratum:[Cell Commun Signal. 2024 Sep 11;22(1):439. doi: 10.1186/s12964-024-01815-3. PMID: 39261884] Publication Status: Online-Only, [RefSeq, PubMed]; Electroneutral Na(+) /H(+) antiporter that extrudes Na(+) in exchange for external protons driven by the inward sodium ion chemical gradient, protecting cells from acidification that occurs from metabolism (PubMed:11350981, PubMed:11532004, PubMed:14680478, PubMed:15035633, PubMed:15677483, PubMed:17073455, PubMed:17493937, PubMed:22020933, PubMed:27650500, PubMed:32130622, PubMed:7110335, PubMed:7603840). Exchanges intracellular H(+) ions for extracellular Na(+) in 1:1 stoichiometry (By similarity). Plays a key role in maintening intracellular pH neutral and cell volume, and thus is important for cell growth, proliferation, migration and survival (PubMed:12947095, PubMed:15096511, PubMed:22020933, PubMed:8901634). In addition, can transport lithium Li(+) and also functions as a Na(+)/Li(+) antiporter (PubMed:7603840). SLC9A1 also functions in membrane anchoring and organization of scaffolding complexes that coordinate signaling inputs (PubMed:15096511)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Permissive role of Na(+)/H(+) exchanger isoform 1 in migration and invasion of triple-negative basal-like breast cancer cells., [RefSeq, PubMed]; Requirement of Na+/H+ Exchanger NHE1 for Vasopressin-Induced Osteogenic Signaling and Calcification in Human Aortic Smooth Muscle Cells., [RefSeq, PubMed]; Simultaneous disturbance of NHE1 and LOXL2 decreases tumorigenicity of head and neck squamous cell carcinoma., [RefSeq, PubMed]; This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma membrane transporter that is expressed in the kidney and intestine. This protein plays a central role in regulating pH homeostasis, cell migration and cell volume. This protein may also be involved in tumor growth. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 6, "predicted_n_glycosites": 0, "predicted_o_glycosites": 6, "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": 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": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 37, "reported_mutagensis": 54, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 9, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B1ALD6;D3DPL4;Q96EM2", "ec_number_list": "1.1.1.30;1.1.1.104", "go_molecular_function": "GO:0015385 sodium:proton antiporter activity;GO:0015386 potassium:proton antiporter activity;GO:0060090 molecular adaptor activity;GO:0005516 calmodulin binding;GO:0005543 phospholipid binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface", "go_biological_process": "GO:0051893 regulation of focal adhesion assembly;GO:0070417 cellular response to cold;GO:0086003 cardiac muscle cell contraction;GO:0086092 regulation of the force of heart contraction by cardiac conduction;GO:0016477 cell migration", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "P19634-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60902-1", "uniprot_id": "SHOX2_HUMAN", "mass": 34953.0, "length": 331, "protein_name": "Short stature homeobox protein 2", "gene_name": "SHOX2", "organism": "Human", "refseq_name": "short stature homeobox protein 2 isoform c", "refseq_ac": "NP_001157150", "gene_names_uniprotkb": "SHOX2; OG12X; SHOT", "gene_names_refseq": "OG12X; OG12; SHOT; SHOX2", "protein_names_uniprotkb": "Short stature homeobox protein 2; Homeobox protein Og12X; Paired-related homeobox protein SHOT", "protein_names_refseq": "SHOX homologous gene on chromosome 3; homeobox protein Og12X; paired-related homeobox protein SHOT; short stature homeobox 2; short stature homeobox protein 2 isoform c", "tax_id": 9606, "disease": "Leri-Weill dyschondrosteosis (Disease Ontology:DOID:0060847); lung cancer (Disease Ontology:DOID:1324)", "pathway": " (hsa:6474)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10749976;11237011;14759258;22299025;25576301;27846572;29393594;29632046;34465361;35051231;35088378;38840077;39389973;39415634;9466998;9482898", "class_list": "", "function": "A gene desert required for regulatory control of pleiotropic Shox2 expression and embryonic survival. Publication Status: Online-Only, [RefSeq, PubMed]; Association of the SHOX2 and RASSF1A methylation levels with the pathological evolution of early-stage lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Downregulation of short-stature homeobox protein 2 suppresses gastric cancer cell growth and stemness in vitro and in vivo via inactivating wnt/beta-catenin signaling., [RefSeq, PubMed]; May be a growth regulator and have a role in specifying neural systems involved in processing somatosensory information, as well as in face and body structure formation., [UniProtKB]; SHOX2 cooperates with STAT3 to promote breast cancer metastasis through the transcriptional activation of WASF3. Publication Status: Online-Only, [RefSeq, PubMed]; SHOX2 methylation in Vietnamese patients with lung cancer., [RefSeq, PubMed]; This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 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": 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": "O60465;O60467;O60903", "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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0060931 sinoatrial node cell development;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007399 nervous system development;GO:0001501 skeletal system development", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "O60902-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q08ET2-1", "uniprot_id": "SIG14_HUMAN", "mass": 43970.0, "length": 396, "protein_name": "Sialic acid-binding Ig-like lectin 14", "gene_name": "SIGLEC14", "organism": "Human", "refseq_name": "sialic acid-binding Ig-like lectin 14 precursor", "refseq_ac": "NP_001092082", "gene_names_uniprotkb": "SIGLEC14; PRO333", "gene_names_refseq": "SIGLEC14", "protein_names_uniprotkb": "Sialic acid-binding Ig-like lectin 14; Siglec-14", "protein_names_refseq": "sialic acid-binding Ig-like lectin 14 precursor; siglec-14", "tax_id": 9606, "disease": "", "pathway": " (hsa:100049587); (R-HSA-2172127); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 57, "publication_id_list": "37639587;10049942;10449773;10604985;10940905;11602640;12668644;12776204;12975309;14707061;15265913;15557162;15884055;15940674;16623599;16920917;16933987;17012248;17110943;17202323;17483134;17641029;18624290;18629938;19369701;19858347;20093094;20865034;20890284;23090970;23519826;23650620;24190977;24799499;26459514;28005267;28454648;29391424;29557506;30377253;30429286;31805552;32265295;32350084;32983136;33123756;33298915;33912179;34208838;35251023;35580925;36109518;37074911;8692836;9490415;9625766;9655483", "class_list": "", "function": "Analysis of Genetic Variants Associated with Levels of Immune Modulating Proteins for Impact on Alzheimer's Disease Risk Reveal a Potential Role for SIGLEC14. Publication Status: Online-Only, [RefSeq, PubMed]; Data indicate that the Siglec-5/14 genotype influences neutrophil responses to group B Streptococcus., [RefSeq, PubMed]; Genes ACOT1, GSTM1, SIGLEC14 and UGT2B17 are identified as highly absent genes in gastric cancer population. Publication Status: Online-Only, [RefSeq, PubMed]; Putative adhesion molecule. Sialic acid-binding paired receptor which may activate associated receptors., [UniProtKB, PubMed]; Siglec-14 Enhances NLRP3-Inflammasome Activation in Macrophages., [RefSeq, PubMed]; Siglec-14 and Siglec-5 appear to be the first glycan binding paired receptors. Near-complete sequence identity of the amino-terminal part of human Siglec-14 and Siglec-5 indicates partial gene conversion between SIGLEC14 and SIGLEC5., [RefSeq, PubMed]; Siglec-14 and its downstream signaling pathway facilitate the 'infection-inflammation-exacerbation' axis of COPD disease progression, [RefSeq, PubMed]; Soluble Siglec-14 suppresses pro-inflammatory responses triggered by membrane-bound Siglec-14, [RefSeq, PubMed]; The presence of the 'SIGLEC14 null' allele in all human populations we tested implies an ancient origin, while its allelic frequency is higher in Asians compared with Africans and Europeans. Siglec-14 may play some role in bacterial infection., [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": 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": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 1077, "biomarker_type": "", "glycan_count": 12, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q6UXG0", "ec_number_list": "", "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0033691 sialic acid binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070821 tertiary granule membrane;GO:0101003 ficolin-1-rich granule membrane", "go_biological_process": "GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q08ET2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q11203-1", "uniprot_id": "SIAT6_HUMAN", "mass": 42171.0, "length": 375, "protein_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase", "gene_name": "ST3GAL3", "organism": "Human", "refseq_name": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform k", "refseq_ac": "NP_001257388", "gene_names_uniprotkb": "ST3GAL3; SIAT6", "gene_names_refseq": "DEE15; EIEE15; MRT12; SIAT6; ST3GAL3; ST3GALII; ST3Gal III; ST3GalIII; ST3N", "protein_names_uniprotkb": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase; 2.4.3.6; Alpha 2,3-ST 3; Beta-galactoside alpha-2,3-sialyltransferase 3; Gal beta-1,3(4) GlcNAc alpha-2,3 sialyltransferase; N-acetyllactosaminide alpha-2,3-sialyltransferase; ST3Gal III; ST3GalIII; ST3N; Sialyltransferase 6", "protein_names_refseq": "CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform k; CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase; Gal beta-1,3(4)GlcNAc alpha-2,3 sialyltransferase; alpha 2,3-ST 3; alpha 2,3-sialyltransferase III; alpha-2,3-sialyltransferase II; sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase); sialyltransferase 6 (N-acetyllactosaminide alpha 2,3-sialyltransferase)", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 15 (Disease Ontology:DOID:0080414); autosomal recessive intellectual developmental disorder 12 (Disease Ontology:DOID:0081180)", "pathway": " (hsa:6487); (R-HSA-1912420); (R-HSA-2022854); (R-HSA-3656243); (R-HSA-4085001); (R-HSA-9037629); (R-HSA-9683673); (R-HSA-9694548); (R-HSA-9694719); (R-HSA-977068); (R-HSA-9840309)", "pathway_count": 11, "publication_count": 173, "publication_id_list": "10.1101/2023.09.13.557529;10075724;10191093;10206952;10212226;10330343;10334995;10366590;10405317;10431835;10459009;10491328;10504389;10536037;10545110;10581036;10601645;10669757;10742600;10748143;10749855;10861246;10935626;10935637;10947946;10993897;11018043;11030741;11042166;11042394;11062056;11135303;11237011;11279095;11283017;11528398;11530204;11588157;11602804;11707585;11751519;11821425;11901181;11916006;11956206;12049766;12107078;12177386;12218059;12222957;12235148;12473780;12603328;12668675;12678917;12697334;12743242;12815231;12888565;1295745;14688233;14962670;15136692;15158662;1520296;15213228;15316282;15466199;15486459;15501818;15560372;15576474;15620693;1601877;16147865;16237198;16319059;16474139;16934889;1702034;17021253;17120046;17123352;1714903;1716630;1740457;1756715;1764995;18632803;19664994;19701457;1977660;19797320;20170518;20197277;20547865;21081508;21097675;2118655;21907012;22692205;22735313;22915798;23252400;23290777;2373995;23746551;23882130;24498430;24953560;27846572;29557506;29802621;30089820;3136930;31584066;32350084;32363391;32366695;32387766;32518941;32676595;33310888;34117209;34357683;34428449;34509645;34528721;34599882;34961524;34982351;35251023;36405992;37067065;38034954;38253038;38602029;7252518;7559389;7876235;7890749;7918097;7986008;8207002;8240337;8288606;8293978;8333853;8591035;8611500;8631981;8643456;8681805;8830034;8910600;8920913;8985184;9010752;9030544;9125199;9187150;9199191;9207795;9219535;9244302;9405439;9417100;9582303;9597550;9653148;9727485;9822625;9826427", "class_list": "glycogene;glycosyltransferase", "function": "19 different transcripts of ST3GalIII were isolated and cloned; tissue distribution analysis showed complex patterns in neural and muscular tissues, [RefSeq, PubMed]; Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- and NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. The highest activity is toward Gal-beta-1,3-GlcNAc and the lowest toward Gal-beta-1,3-GalNAc., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Characterization of the promoter region of the ST3Gal III gene., [RefSeq, PubMed]; Human ST3Gal II and ST6GalNAc IV genes increase human serum-mediated cytotoxicity to xenogeneic cells., [RefSeq, PubMed]; Identification of a new ST3Gal3 transcript from fetal brain., [RefSeq, PubMed]; ST3GAL3 Promotes the Inflammatory Response of Fibroblast-Like Synoviocytes in Rheumatoid Arthritis by Activating the TLR9/MyD88 Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; ST3GAL3 mutations impair the development of higher cognitive functions., [RefSeq, PubMed]; The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy. Review article, [RefSeq, PubMed]; The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with a form of autosomal recessive nonsymdromic cognitive disability as well as infantile epileptic encephalopathy. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 388, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A9Z1W2;D3DPX8;Q5T4W9;Q5T4X0;Q5T4X7;Q5T4X8;Q5T4X9;Q5T4Y0;Q5T4Y2;Q5T4Y3;Q5T4Y4;Q86UR6;Q86UR7;Q86UR8;Q86UR9;Q86US0;Q86US1;Q86US2;Q8IX41;Q8IX42;Q8IX43;Q8IX44;Q8IX45;Q8IX46;Q8IX47;Q8IX48;Q8IX49;Q8IX50;Q8IX51;Q8IX52;Q8IX53;Q8IX54;Q8IX55;Q8IX56;Q8IX57;Q8IX58", "ec_number_list": "2.4.3.1;2.4.3.2;2.4.3.4;2.4.3.6;2.4.3.7;2.4.3.3;2.4.3.9", "go_molecular_function": "GO:0008373 sialyltransferase activity;GO:0047288 beta-D-galactosyl-(1->3)-N-acetyl-beta-D-galactosaminide alpha-2,3- sialyltransferase;GO:0003836 beta-galactoside (CMP) alpha-2,3-sialyltransferase activity;GO:0008118 N-acetyllactosaminide alpha-2,3-sialyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0019082 viral protein processing;GO:0006688 glycosphingolipid biosynthetic process;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine;GO:0009312 oligosaccharide biosynthetic process;GO:0018146 keratan sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 2417, "hit_score": 18.0, "record_id": "Q11203-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75556-1", "uniprot_id": "SG2A1_HUMAN", "mass": 10884.0, "length": 95, "protein_name": "Mammaglobin-B", "gene_name": "SCGB2A1", "organism": "Human", "refseq_name": "mammaglobin-B precursor", "refseq_ac": "NP_002398", "gene_names_uniprotkb": "SCGB2A1; LIPHC; MGB2; UGB3", "gene_names_refseq": "LPHC; LPNC; MGB2; SCGB2A1; UGB3", "protein_names_uniprotkb": "Mammaglobin-B; Lacryglobin; Lipophilin-C; Mammaglobin-2; Secretoglobin family 2A member 1", "protein_names_refseq": "lacryglobin; lipophilin C; mammaglobin-2; mammaglobin-B precursor; mammaglobin-B", "tax_id": 9606, "disease": "", "pathway": " (hsa:4246)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10066439;18669648;24706379;25425335;25906123;25946035;29729704;29741879;31154438;31611695;32983136;9504814;9720917;9806831", "class_list": "", "function": "May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones., [UniProtKB]; Novel marker GATA3 stains a significantly higher proportion of both primary and metastatic breast carcinomas than GCDFP15 or mammaglobin with stronger and more diffuse staining, helpful in cases with small tissue samples Review article, [RefSeq, PubMed]; Results indicate that the quantitative analysis of h-MAM mRNA is a useful tool for detecting CTCs in breast cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; The commonly used breast carcinoma biomarkers vary in their prognostic implications. GCDFP-15 independently indicated a favourable prognosis. GATA-3 and MGB were not associated with outcome., [RefSeq, PubMed]; The expression of HOXB13, IL17BR, and mammaglobin 1 in sentinel lymph nodes predict the outcome of primary breast 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": 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": 4, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0030521 androgen receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "O75556-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94964-2", "uniprot_id": "MTCL2_HUMAN", "mass": 183858.0, "length": 1661, "protein_name": "Microtubule cross-linking factor 2", "gene_name": "MTCL2", "organism": "Human", "refseq_name": "microtubule cross-linking factor 2 isoform 1", "refseq_ac": "NP_542194", "gene_names_uniprotkb": "MTCL2; C20orf117; KIAA0889; SOGA1; SOGA", "gene_names_refseq": "C20orf117; KIAA0889; MTCL2; SOGA1; SOGA", "protein_names_uniprotkb": "Microtubule cross-linking factor 2; SOGA family member 1; Suppressor of glucose by autophagy; Suppressor of glucose, autophagy-associated protein 1", "protein_names_refseq": "SOGA family member 1; microtubule cross-linking factor 2 isoform 1; microtubule cross-linking factor 2; protein SOGA1; suppressor of glucose by autophagy; suppressor of glucose from autophagy; suppressor of glucose, autophagy associated 1; suppressor of glucose, autophagy-associated protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:140710)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "18669648;20813965;23186163;23301498;23481700;25645385;28832583;29242379;29508533;31004302;31844290;31848261;32157095;33587225;33936100;34171305;34509645;35561310;37938771;38084791", "class_list": "", "function": "Authors selected an HCC-specific RNA-based biomarker panel that depended on the integration of suppressor of glucose autophagy-associated (SOGA1) gene expression with the chosen panel of epigenetic regulators of this gene [long non-coding RNA antisense for X-inactive-specific transcript (lncRNA-TSIX) and microRNA-548-a-3p (miR-548-a-3p)]. Erratum:[Mol Biol Rep. 2019 Aug;46(4):4591. doi: 10.1007/s11033-019-04838-z. PMID: 31049832], [RefSeq, PubMed]; METTL16-mediated N6-methyladenosine modification of Soga1 enables proper chromosome segregation and chromosomal stability in colorectal cancer., [RefSeq, PubMed]; Microtubule-associated factor that enables integration of the centrosomal and Golgi-associated microtubules on the Golgi membrane, supporting directional migration. Preferentially acts on the perinuclear microtubules accumulated around the Golgi. Associates with the Golgi membrane through the N-terminal coiled-coil region and directly binds microtubules through the C-terminal domain (By similarity). Required for faithful chromosome segregation during mitosis (PubMed:33587225). Regulates autophagy by playing a role in the reduction of glucose production in an adiponectin- and insulin-dependent manner (By similarity)., [UniProtKB, UniProtKB, PubMed]; SOGA1 and SOGA2/MTCL1 are CLASP-interacting proteins required for faithful chromosome segregation in human 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": 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": 37, "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": "A6NK10;Q14DB2;Q5JW51;Q6ZTG8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005874 microtubule;GO:0070062 extracellular exosome;GO:0030496 midbody", "go_biological_process": "GO:0007059 chromosome segregation;GO:0010506 regulation of autophagy;GO:0051301 cell division;GO:0008286 insulin receptor signaling pathway;GO:0045721 negative regulation of gluconeogenesis", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "O94964-2", "record_type": "protein" }, { "uniprot_canonical_ac": "O94991-1", "uniprot_id": "SLIK5_HUMAN", "mass": 107486.0, "length": 958, "protein_name": "SLIT and NTRK-like protein 5", "gene_name": "SLITRK5", "organism": "Human", "refseq_name": "SLIT and NTRK-like protein 5 precursor", "refseq_ac": "NP_056382", "gene_names_uniprotkb": "SLITRK5; KIAA0918; LRRC11", "gene_names_refseq": "LRRC11; SLITRK5; bA364G4.2", "protein_names_uniprotkb": "SLIT and NTRK-like protein 5; Leucine-rich repeat-containing protein 11", "protein_names_refseq": "SLIT and NTRK-like protein 5 precursor; SLIT and NTRK-like protein 5; leucine rich repeat containing 11; leucine-rich repeat-containing protein 11; slit and trk like gene 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:26050); (R-HSA-388844); (R-HSA-9013404); (R-HSA-9013423)", "pathway_count": 4, "publication_count": 81, "publication_id_list": "10.1038/emboj.2013.79;10618392;10847683;11145705;11149925;11704860;11919634;11956649;14557068;1464587;14675773;15023524;15169870;15542837;15750591;15814684;16081809;16212419;16243035;16243036;1660188;16777452;17060455;17158234;17214551;17269730;17698854;17765681;18056264;18191593;18662984;18697831;19252495;19269969;19534724;20139422;21151158;21262467;21378159;21940441;22286174;22357843;23255595;23345436;23584533;23757206;23870057;24623723;25385546;25862245;25908590;26016997;26628301;27481945;27713499;28356423;31389670;31844290;31871319;32350084;32387766;32502341;33392160;33912179;34326333;34357683;35051231;35251023;35494241;35579188;35580925;35872846;36241641;36811190;7479768;7796809;8645157;9113980;9252344;9624153;9705280", "class_list": "", "function": "MUC21 controls melanoma progression via regulating SLITRK5 and hedgehog signaling pathway., [RefSeq, PubMed]; Members of the SLITRK family, such as SLITRK5, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK5, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008]., [RefSeq]; SLITRK5 is a negative regulator of hedgehog signaling in osteoblasts. Publication Status: Online-Only, [RefSeq, PubMed]; Suppresses neurite outgrowth., [UniProtKB]; The Role of SliTrk5 in Central Nervous System. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Upregulation of SLITRK5 in patients with epilepsy and in a rat model., [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": 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": 42, "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": "B3KNB8;B4DSH5;Q5VT81", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0098839 postsynaptic density membrane", "go_biological_process": "GO:0007409 axonogenesis;GO:0051965 positive regulation of synapse assembly;GO:0099560 synaptic membrane adhesion;GO:0150035 regulation of trans-synaptic signaling by BDNF, modulating synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "O94991-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95562-1", "uniprot_id": "SFT2B_HUMAN", "mass": 17779.0, "length": 160, "protein_name": "Vesicle transport protein SFT2B", "gene_name": "SFT2D2", "organism": "Human", "refseq_name": "vesicle transport protein SFT2B", "refseq_ac": "NP_955376", "gene_names_uniprotkb": "SFT2D2; PRO1027", "gene_names_refseq": "SFT2D2; UNQ512; dJ747L4.C1.2", "protein_names_uniprotkb": "Vesicle transport protein SFT2B; SFT2 domain-containing protein 2", "protein_names_refseq": "SFT2 domain-containing protein 2; vesicle transport protein SFT2B", "tax_id": 9606, "disease": "", "pathway": " (hsa:375035)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;12975309;19064610;19536175;20068231;21406692;23186163;24715725;25418920;25502872;25576301;27600516;27846572;28228285;28904123;29393594;29632046;29786170;30315122;31154438;31844290;31937595;32157095;32265295;32488085;32502341;32938616;32983136;33141586;33691108;33717175;33936100;33968037;34171305;35580925;36010968;36241641", "class_list": "", "function": "May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex., [UniProtKB, 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K2R0;Q6UWR8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0012505 endomembrane system", "go_biological_process": "GO:0015031 protein transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "O95562-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95968-1", "uniprot_id": "SG1D1_HUMAN", "mass": 9898.0, "length": 90, "protein_name": "Secretoglobin family 1D member 1", "gene_name": "SCGB1D1", "organism": "Human", "refseq_name": "secretoglobin family 1D member 1 precursor", "refseq_ac": "NP_006543", "gene_names_uniprotkb": "SCGB1D1; LIPHA; LPNA", "gene_names_refseq": "LIPA; LPHA; LPNA; SCGB1D1", "protein_names_uniprotkb": "Secretoglobin family 1D member 1; Lipophilin-A", "protein_names_refseq": "lipophilin A (uteroglobin family member); lipophilin-A; prostatein-like lipophilin A; secretoglobin family 1D member 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:10648)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10066439;24715725;25946035;26154972;26375851;29557506;29789417;31154438;31611695;35051231;9720917", "class_list": "", "function": "May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones., [UniProtKB]; The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. This gene product represents one component of a heterodimeric molecule present in human tears whose elution profile is consistent with prostatein, a tetrameric molecule composed of three peptide components in heterodimers. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 15, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [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:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "O95968-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C7M3-1", "uniprot_id": "SFTA3_HUMAN", "mass": 10526.0, "length": 94, "protein_name": "Surfactant-associated protein 3", "gene_name": "SFTA3", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "SFTA3; SFTPH", "gene_names_refseq": "", "protein_names_uniprotkb": "Surfactant-associated protein 3; SP-H; Surfactant-associated protein H", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-5683826); (R-HSA-5688849); (R-HSA-5688890)", "pathway_count": 3, "publication_count": 58, "publication_id_list": "10368295;10485905;10496952;10580105;10625644;11278984;11563989;12185598;12882447;1325798;1339284;1415726;1568474;15926889;16006481;16199866;1636732;16423266;16630564;17496061;18020944;18692472;18955570;1898081;19100526;19144824;1928448;19824815;20054143;20147294;20338813;20418254;21075760;21205713;23069847;23590306;23684610;23922714;24743970;2515193;25424900;2587265;2610270;29955092;2995821;3037072;3366248;34631;35580925;3755136;3801783;7597036;8314870;8428971;8522976;8527267;8636114;9813380", "class_list": "", "function": "Putative surfactant protein. May be involved in wound healing and in the reduction of the surface tension at the ocular surface., [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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005789 endoplasmic reticulum membrane;GO:0045334 clathrin-coated endocytic vesicle", "go_biological_process": "GO:0042060 wound healing", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "P0C7M3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DI80-1", "uniprot_id": "ERLN_HUMAN", "mass": 7017.0, "length": 62, "protein_name": "Endoregulin", "gene_name": "ERLN", "organism": "Human", "refseq_name": "endoregulin", "refseq_ac": "NP_001156469", "gene_names_uniprotkb": "ERLN; C17orf110; SMIM6", "gene_names_refseq": "C17orf110; ELN; ERLN; SMIM6", "protein_names_uniprotkb": "Endoregulin; ELN; Small integral membrane protein 6", "protein_names_refseq": "endoregulin; small integral membrane protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:100130933)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "36523160", "class_list": "", "function": "Inhibits the activity of the calcium ATPases ATP2A2/SERCA2 and ATP2A3/SERCA3 by decreasing their apparent affinity for Ca(2+)., [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:0005789 endoplasmic reticulum membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0DI80-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DMR2-1", "uniprot_id": "SG1C2_HUMAN", "mass": 10457.0, "length": 95, "protein_name": "Secretoglobin family 1C member 2", "gene_name": "SCGB1C2", "organism": "Human", "refseq_name": "secretoglobin family 1C member 2 precursor", "refseq_ac": "NP_001091079", "gene_names_uniprotkb": "SCGB1C2", "gene_names_refseq": "SCGB1C2", "protein_names_uniprotkb": "Secretoglobin family 1C member 2", "protein_names_refseq": "secretoglobin family 1C member 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:653486)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "31844290;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:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "P0DMR2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P21815-1", "uniprot_id": "SIAL_HUMAN", "mass": 35148.0, "length": 317, "protein_name": "Integrin-binding sialoprotein", "gene_name": "IBSP", "organism": "Human", "refseq_name": "integrin-binding sialoprotein precursor", "refseq_ac": "NP_004958", "gene_names_uniprotkb": "IBSP; BNSP", "gene_names_refseq": "BNSP; BSP II; BSP-II; BSP; IBSP; SP-II", "protein_names_uniprotkb": "Integrin-binding sialoprotein; BSP II; Bone sialoprotein 2; Bone sialoprotein II; Cell-binding sialoprotein", "protein_names_refseq": "bone sialoprotein 2; bone sialoprotein II; cell-binding sialoprotein; integrin-binding sialoprotein precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:3381); (R-HSA-216083); (R-HSA-3000178)", "pathway_count": 3, "publication_count": 113, "publication_id_list": "10022829;10209034;10339611;10366422;10438935;10543983;10593924;10605720;10640428;10673326;10673366;10713152;10811134;10982388;11084047;11158588;11259413;11459848;11518510;11572855;11669636;11713259;11980922;12225811;12496264;12585966;12682293;12807887;1376317;14715956;15075323;15240572;15296743;15330449;15345499;15383545;1544908;15713743;1588291;15899827;16002701;16051604;16239428;16293224;16493581;16731529;16754661;16933105;17339034;17588949;17968485;1818768;18710925;18775695;19502598;20033473;2010551;2059554;20705068;21642437;21789315;22134916;22539938;22884367;23374253;2364322;2404984;24103036;2412224;2420006;2430969;32302330;32362616;33987980;35051231;35081229;3597437;36261010;38006395;6193777;6439184;7499434;7505120;7525578;7527058;7541634;7542249;7542669;7559467;7685013;7693733;7852349;8002934;8061918;8118028;8344274;8406493;8440685;8560266;8798654;8838667;8910476;8943283;9251239;9252349;9294172;9341124;9346959;9443892;9565552;9685393;9858236;9949188", "class_list": "", "function": "Binds tightly to hydroxyapatite (PubMed:11459848). Appears to form an integral part of the mineralized matrix (PubMed:1818768). Probably important to cell-matrix interaction (PubMed:1818768). Promotes adhesion and migration of various cells via the alpha-V/beta-3 integrin receptor (ITGAV:ITGB3) (PubMed:10640428, PubMed:11459848, PubMed:24103036)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; High expression of integrin-binding sialoprotein (IBSP) is associated with poor prognosis of osteosarcoma., [RefSeq, PubMed]; IBSP, a potential recurrence biomarker, promotes the progression of colorectal cancer via Fyn/beta-catenin signaling pathway., [RefSeq, PubMed]; Preservation of immunoexpression of type I collagen, BSP and BMP4 in the dentin-pulp complex of head and neck cancer patients after radiotherapy. Publication Status: Online-Only, [RefSeq, PubMed]; Serum levels of bone sialoprotein, osteopontin, and beta2-microglobulin in stage I of multiple myeloma., [RefSeq, PubMed]; Study analyzed circulating bone sialoprotein (BSP) in a large cohort of patients with liver cirrhosis. Serum levels of BSP were similar in patients with different disease stages and were not indicative for prognosis. BSP serum levels did correlate inversely with portal pressure. BSP might represent a previously unrecognized marker for portal hypertension in patients with liver cirrhosis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor. [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": 7, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "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": 0, "reported_phosphosites": 8, "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": 11, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0005178 integrin binding;GO:0036094 small molecule binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0016020 membrane;GO:0031982 vesicle", "go_biological_process": "GO:0007155 cell adhesion;GO:0030198 extracellular matrix organization;GO:0045785 positive regulation of cell adhesion;GO:0071363 cellular response to growth factor stimulus;GO:0001649 osteoblast differentiation", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "P21815-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35610-1", "uniprot_id": "SOAT1_HUMAN", "mass": 64735.0, "length": 550, "protein_name": "Sterol O-acyltransferase 1", "gene_name": "SOAT1", "organism": "Human", "refseq_name": "sterol O-acyltransferase 1 isoform 2", "refseq_ac": "NP_001239440", "gene_names_uniprotkb": "SOAT1; ACACT1; ACACT; ACAT1; ACAT; SOAT; STAT", "gene_names_refseq": "ACACT; ACAT-1; ACAT1; ACAT; SOAT1; SOAT; STAT", "protein_names_uniprotkb": "Sterol O-acyltransferase 1; 2.3.1.26; ACAT-1; Acyl-coenzyme A:cholesterol acyltransferase 1; Cholesterol acyltransferase 1", "protein_names_refseq": "acyl-coenzyme A:cholesterol acyltransferase 1; sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1; sterol O-acyltransferase 1 isoform 2", "tax_id": 9606, "disease": "Chagas disease (Disease Ontology:DOID:12140)", "pathway": " (hsa:6646); (R-HSA-8964038)", "pathway_count": 2, "publication_count": 150, "publication_id_list": "10224102;10438503;11237011;11294643;11584272;12221107;12464675;12750860;14978097;15166224;15265030;16154994;16179341;16647063;17018531;1718995;17452316;18480028;18644789;18772377;18782767;18991276;19141679;19196236;19563754;19592704;19748539;20947831;22009320;221835;22764087;23169578;23186163;23481700;23783831;24029068;24397554;24714562;24715725;24868095;25418920;25576301;25645385;25699256;25892735;25915661;26154972;26375851;26474739;26758079;26811146;26929215;26992070;2722848;27397612;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30779550;30833945;31092671;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32433613;32433614;32488085;32502341;32897882;32938616;32944968;32983136;33123756;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33866776;33912179;33968037;33981976;34087483;34171305;34185709;34357683;34509645;34561969;34725712;34932366;35051231;35083852;35251023;35318648;35561310;35580925;35941608;36010968;36215666;36241641;36284347;36581221;37217939;37938771;38673803;38724499;38770938;40596516;8049197;8112342;8146180;8407899;9020103;9705237;9756920", "class_list": "", "function": "Catalyzes the formation of fatty acid-cholesterol esters, which are less soluble in membranes than cholesterol (PubMed:16154994, PubMed:16647063, PubMed:32433613, PubMed:32433614, PubMed:32944968, PubMed:9020103). Plays a role in lipoprotein assembly and dietary cholesterol absorption (PubMed:16154994, PubMed:9020103). Preferentially utilizes oleoyl-CoA ((9Z)-octadecenoyl-CoA) as a substrate: shows a higher activity towards an acyl-CoA substrate with a double bond at the delta-9 position (9Z) than towards saturated acyl-CoA or an unsaturated acyl-CoA with a double bond at the delta-7 (7Z) or delta-11 (11Z) positions (PubMed:11294643, PubMed:32433614)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; High-affinity SOAT1 ligands remodeled cholesterol metabolism program to inhibit tumor growth. Publication Status: Online-Only, [RefSeq, PubMed]; SOAT1 in gallbladder cancer: Clinicopathological significance and avasimibe therapeutics., [RefSeq, PubMed]; SOAT1 regulates cholesterol metabolism to induce EMT in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found 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": 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": 27, "reported_glycation": 0, "reported_snv": 15, "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": "A6NC40;A8K3P4;A9Z1V7;B4DU95;Q5T0X4;Q8N1E4", "ec_number_list": "2.3.1.26", "go_molecular_function": "GO:0042802 identical protein binding;GO:0015485 cholesterol binding;GO:0000062 fatty-acyl-CoA binding;GO:0004772 sterol O-acyltransferase activity;GO:0034736 cholesterol O-acyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0010742 macrophage derived foam cell differentiation;GO:0008203 cholesterol metabolic process;GO:0033344 cholesterol efflux;GO:0034379 very-low-density lipoprotein particle assembly;GO:0042632 cholesterol homeostasis", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "P35610-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P58511-1", "uniprot_id": "SIM11_HUMAN", "mass": 6886.0, "length": 58, "protein_name": "Small integral membrane protein 11", "gene_name": "SMIM11", "organism": "Human", "refseq_name": "small integral membrane protein 11", "refseq_ac": "NP_478062", "gene_names_uniprotkb": "SMIM11; C21orf51; FAM165B; SMIM11A", "gene_names_refseq": "C21orf51; FAM165B; SMIM11A; SMIM11B; SMIM11", "protein_names_uniprotkb": "Small integral membrane protein 11", "protein_names_refseq": "family with sequence similarity 165, member B; protein FAM165B; small integral membrane protein 11A; small integral membrane protein 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:102723553); (hsa:54065)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "11237011;11707072;12036298;23481700;26992070;28218747;28228285;28904123;29242379;29393594;29437277;29632046;30315122;30484775;31154438;31844290;32265295;32350084;32938616;33592498;33968037;34357683;34932366;35051231;35580925;36241641;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": 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": 2.8, "record_id": "P58511-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q499Z3-1", "uniprot_id": "SLNL1_HUMAN", "mass": 45603.0, "length": 407, "protein_name": "Schlafen-like protein 1", "gene_name": "SLFNL1", "organism": "Human", "refseq_name": "schlafen-like protein 1 isoform 1", "refseq_ac": "NP_001161719", "gene_names_uniprotkb": "SLFNL1", "gene_names_refseq": "SLFNL1", "protein_names_uniprotkb": "Schlafen-like protein 1", "protein_names_refseq": "schlafen-like protein 1 isoform 1; schlafen-like protein 1; testicular tissue protein Li 173", "tax_id": 9606, "disease": "", "pathway": " (hsa:200172)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;29557506;32488085;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": 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": "A8K8D1;Q49AG8;Q5VW72;Q5VW74;Q8N7V7;Q8TCH6;Q8WVZ8", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q499Z3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13296-1", "uniprot_id": "SG2A2_HUMAN", "mass": 10499.0, "length": 93, "protein_name": "Mammaglobin-A", "gene_name": "SCGB2A2", "organism": "Human", "refseq_name": "mammaglobin-A precursor", "refseq_ac": "NP_002402", "gene_names_uniprotkb": "SCGB2A2; MGB1; UGB2", "gene_names_refseq": "MGB1; PSBP1; SCGB2A2; UGB2", "protein_names_uniprotkb": "Mammaglobin-A; Mammaglobin-1; Secretoglobin family 2A member 2", "protein_names_refseq": "mammaglobin 1; mammaglobin-A precursor; mammaglobin-A; prostatic steroid binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:4250)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "15538043;26375851;28038704;29340880;29741879;31091800;31400353;31807192;32467564;32747636;35051231;35945910;38665916;8631025;9488047", "class_list": "", "function": "Bone marrow mammaglobin-1 (SCGB2A2) immunohistochemistry expression as a breast cancer specific marker for early detection of bone marrow micrometastases. Publication Status: Online-Only, [RefSeq, PubMed]; GATA-3 expression was the highest in luminal breast carcinomas, and showed higher sensitivity than GCDFP-15 and MGB. However, in the poorly differentiated IBC, its utility was still limited. One should be aware of the possible GATA-3 expression in lung carcinomas., [RefSeq, PubMed]; Good coincidence was observed between primary and metastatic tumor GATA3 expression (kappa value = 0.826 >0.75) as compared with the coincidence of GCDFP15 (kappa value =0.492 <0.75) and mammaglobin (kappa value =0.593 <0.75), [RefSeq, PubMed]; Mammaglobin 1 mediates progression of trastuzumab-resistant breast cancer cells through regulation of cyclins and NF-kappaB., [RefSeq, PubMed]; This study has confirmed that the mammaglobin is commonly expressed in salivary duct carcinoma de novo and secretory carcinomas., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 26, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A1A522;Q86WH8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0030521 androgen receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q13296-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2M3G4-1", "uniprot_id": "SHRM1_HUMAN", "mass": 90786.0, "length": 852, "protein_name": "Protein Shroom1", "gene_name": "SHROOM1", "organism": "Human", "refseq_name": "protein Shroom1 isoform 1", "refseq_ac": "NP_001166171", "gene_names_uniprotkb": "SHROOM1; APXL2; KIAA1960", "gene_names_refseq": "APXL2; SHROOM1", "protein_names_uniprotkb": "Protein Shroom1; Apical protein 2", "protein_names_refseq": "apical protein 2; protein Shroom1 isoform 1; protein Shroom1", "tax_id": 9606, "disease": "", "pathway": " (hsa:134549)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;16615870;23186163;23481700;24275569;25576301;26484395;26992070;27758857;27846572;27862975;27920218;28514659;28904123;29557506;31844290;32157095;32357974;32823670;32938616;33298915;33912179;33968037;35051231;35580925;36010968", "class_list": "", "function": "FOXP4 and SHROOM1 genes are hypermethylated in the knee osteoarthritic cartilage., [RefSeq, PubMed]; May be involved in the assembly of microtubule arrays during cell elongation., [UniProtKB]; SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008]., [RefSeq]; Suppression of SHROOM1 Improves In Vitro and In Vivo Gene Integration by Promoting Homology-Directed Repair. Publication Status: Online-Only, [RefSeq, PubMed]; These data provide molecular insight into the Shroom-Rock interface and demonstrate that Shroom directly participates in regulating cytoskeletal dynamics, adding to its known role in Rock localization., [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": 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": "B7WP40;B7ZL01;Q8TDP0;Q8TF41", "ec_number_list": "", "go_molecular_function": "GO:0045159 myosin II binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0005874 microtubule;GO:0005912 adherens junction;GO:0016324 apical plasma membrane;GO:0030864 cortical actin cytoskeleton;GO:0043296 apical junction complex", "go_biological_process": "GO:0000902 cell morphogenesis;GO:0051017 actin filament bundle assembly", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q2M3G4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2TAL5-1", "uniprot_id": "SMTL2_HUMAN", "mass": 50196.0, "length": 461, "protein_name": "Smoothelin-like protein 2", "gene_name": "SMTNL2", "organism": "Human", "refseq_name": "smoothelin-like protein 2 isoform 1", "refseq_ac": "NP_001108446", "gene_names_uniprotkb": "SMTNL2", "gene_names_refseq": "SMTNL2", "protein_names_uniprotkb": "Smoothelin-like protein 2", "protein_names_refseq": "smoothelin-like protein 2 isoform 1; smoothelin-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:342527)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;23981301;28118524;29485866;33275893;38253038", "class_list": "", "function": "Smoothelin-like 2 Inhibits Coronin-1B to Stabilize the Apical Actin Cortex during Epithelial Morphogenesis., [RefSeq, PubMed]; Study describes a novel JNK substrate that emerged from analysis of the human genome, the functionally uncharacterized protein smoothelin-like 2 (SMTNL2). SMTNL2 protein bound with high-affinity to multiple MAPKs including JNK1-3 and ERK2; SMTNL2 protein was expressed in many mammalian tissues, with a notably high expression in skeletal muscle., [RefSeq, PubMed]; Variants of SMTNL2 were associated with rheumatoid arthritis in an Arab population., [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": 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": 9, "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": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZVK6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q2TAL5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2VWA4-1", "uniprot_id": "SKOR2_HUMAN", "mass": 105809.0, "length": 1015, "protein_name": "SKI family transcriptional corepressor 2", "gene_name": "SKOR2", "organism": "Human", "refseq_name": "SKI family transcriptional corepressor 2 isoform 2", "refseq_ac": "NP_001032891", "gene_names_uniprotkb": "SKOR2; CORL2; FUSSEL18", "gene_names_refseq": "CH18515; CORL2; FUSSEL18; SKOR2; VAFCAS", "protein_names_uniprotkb": "SKI family transcriptional corepressor 2; Functional Smad-suppressing element on chromosome 18; Fussel-18; LBX1 corepressor 1-like protein; Ladybird homeobox corepressor 1-like protein", "protein_names_refseq": "LBX1 corepressor 1-like protein; SKI family transcriptional corepressor 2 isoform 2; functional Smad-suppressing element on chromosome 18; functional smad suppressing element 18; fussel-18; ladybird homeobox corepressor 1-like protein", "tax_id": 9606, "disease": "Valence-Farazi cerebellar ataxia syndrome (Disease Ontology:DOID:0070721); nervous system disease (Disease Ontology:DOID:863)", "pathway": " (hsa:652991)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "16200078;18522874;20029986;25645385;25892735;29769354;29997391;40890458", "class_list": "", "function": "Experiments performed using mice, but the observations maybe relevant to other organisms as well., [RefSeq, PubMed]; Has transcriptional corepressor activity. In the developing cerebellum, it downregulates BMP signaling resulting in up-regulation of SHH expression in Purkinje cells and promoting their early differentiation. It is also involved in regulating the proliferation of cerebellar granule cell precursors., [UniProtKB, UniProtKB]; Results verify IRX1, EBF3, SLC5A8, SEPT9, and FUSSEL18 as valid methylation markers in two separate sets of HNSCC specimens; also preliminarily show a trend between HPV16 positivity and target gene hypermethylation of IRX1, EBF3, SLC5A8, and SEPT9., [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": "A0A087X0E6", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0042826 histone deacetylase binding;GO:0046332 SMAD 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:0005737 cytoplasm;GO:0005667 transcription regulator complex", "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;GO:0030514 negative regulation of BMP signaling pathway;GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q2VWA4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3SY56-1", "uniprot_id": "SP6_HUMAN", "mass": 39840.0, "length": 376, "protein_name": "Transcription factor Sp6", "gene_name": "SP6", "organism": "Human", "refseq_name": "transcription factor Sp6", "refseq_ac": "NP_001245177", "gene_names_uniprotkb": "SP6; KLF14", "gene_names_refseq": "AI1K; EPFN; EPIPROFIN; KLF14; SP6", "protein_names_uniprotkb": "Transcription factor Sp6; Krueppel-like factor 14", "protein_names_refseq": "Kruppel-like factor 14; krueppel-like factor 14; transcription factor Sp6", "tax_id": 9606, "disease": "amelogenesis imperfecta type 1K (Disease Ontology:DOID:0060945); amelogenesis imperfecta (Disease Ontology:DOID:2187)", "pathway": " (hsa:80320)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "25344255;31375868;32167558;33652941;34012061", "class_list": "", "function": "A Novel De Novo SP6 Mutation Causes Severe Hypoplastic Amelogenesis Imperfecta Publication Status: Online-Only, [RefSeq, PubMed]; A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta., [RefSeq, PubMed]; Epiprofin (Epfn, also known as Sp6) plays crucial distinct roles in these transition stages as a cell cycle regulator and a transcription factor., [RefSeq, PubMed]; Novel prostate cancer susceptibility gene SP6 predisposes patients to aggressive disease., [RefSeq, PubMed]; Promotes cell proliferation (By similarity). Plays a role in tooth germ growth (By similarity). Plays a role in the control of enamel mineralization. Binds the AMBN promoter (PubMed:32167558)., [UniProtKB, PubMed, UniProtKB]; SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KXS4", "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:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0042476 odontogenesis;GO:0001837 epithelial to mesenchymal transition", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q3SY56-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q587I9-1", "uniprot_id": "SFT2C_HUMAN", "mass": 21790.0, "length": 215, "protein_name": "Vesicle transport protein SFT2C", "gene_name": "SFT2D3", "organism": "Human", "refseq_name": "vesicle transport protein SFT2C", "refseq_ac": "NP_116129", "gene_names_uniprotkb": "SFT2D3", "gene_names_refseq": "SFT2D3", "protein_names_uniprotkb": "Vesicle transport protein SFT2C; SFT2 domain-containing protein 3", "protein_names_refseq": "SFT2 domain-containing protein 3; vesicle transport protein SFT2C", "tax_id": 9606, "disease": "", "pathway": " (hsa:84826)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "16303743;25645385;26992070;28063628;28228285;28832583;28834231;29242379;29493099;29508533;29786170;30833945;31530632;31844290;32161166;32350084;32502341;32938616;32983136;33392160;33691108;33912179;33968037;34171305;34357683;35051231;35251023", "class_list": "", "function": "May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex., [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": "Q8N2P9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0015031 protein transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q587I9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6BEB4-1", "uniprot_id": "SP5_HUMAN", "mass": 41964.0, "length": 398, "protein_name": "Transcription factor Sp5", "gene_name": "SP5", "organism": "Human", "refseq_name": "transcription factor Sp5", "refseq_ac": "NP_001003845", "gene_names_uniprotkb": "SP5", "gene_names_refseq": "SP5", "protein_names_uniprotkb": "Transcription factor Sp5", "protein_names_refseq": "transcription factor Sp5", "tax_id": 9606, "disease": "", "pathway": " (hsa:389058)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "16380080;28228285;29044119;30379171;30429286;31375868;31717259;31844290;32387766;33968037;35051231;37596430;38494680", "class_list": "", "function": "Binds to GC boxes promoters elements. Probable transcriptional activator that has a role in the coordination of changes in transcription required to generate pattern in the developing embryo (By similarity)., [UniProtKB]; CPT1A mediates the succinylation of SP5 which activates transcription of PDPK1 to promote the viability and glycolysis of prostate cancer cells., [RefSeq, PubMed]; Circular RNA circSP5 promotes liver metastasis of colorectal cancer via SP5-mediated BAMBI transcription. Publication Status: Online-Only, [RefSeq, PubMed]; Human Sp5 is a member of Sp transcription factor family with a role in human cancers, [RefSeq, PubMed]; SP5 negatively regulates WNT3a transcriptional programs in human pluripotent stem 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": 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": "", "ec_number_list": "", "go_molecular_function": "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: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", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q6BEB4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IX21-1", "uniprot_id": "SLF2_HUMAN", "mass": 131873.0, "length": 1173, "protein_name": "SMC5-SMC6 complex localization factor protein 2", "gene_name": "SLF2", "organism": "Human", "refseq_name": "SMC5-SMC6 complex localization factor protein 2 isoform 2", "refseq_ac": "NP_001129595", "gene_names_uniprotkb": "SLF2; C10orf6; FAM178A", "gene_names_refseq": "ATELS1; C10orf6; FAM178A; SLF2; hNSE6", "protein_names_uniprotkb": "SMC5-SMC6 complex localization factor protein 2; Smc5/6 localization factor 1", "protein_names_refseq": "SMC5-SMC6 complex localization factor 2; SMC5-SMC6 complex localization factor protein 2 isoform 2; SMC5-SMC6 complex localization factor protein 2; family with sequence similarity 178, member A; protein FAM178A; smc5/6 localization factor 1", "tax_id": 9606, "disease": "mosaic variegated aneuploidy syndrome (Disease Ontology:DOID:0080688); Atelis syndrome 1 (MONDO:MONDO:0859575)", "pathway": " (hsa:55719)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "11237011;12459258;16385451;17081983;17525332;18077418;18669648;19664994;21406692;23186163;23481700;24561620;24715725;25576301;25645385;25880248;25892735;25931565;26992070;27846572;28228285;28514659;28832583;28834231;28904123;29242379;29314611;29508533;29557506;29632711;29769354;29786170;29789417;30315122;30379171;30429286;31154438;31217245;31844290;32157095;32161166;32357974;32387766;32938616;33592498;33633747;33912179;33968037;33979636;33981976;34019948;34185709;34211107;34561969;34780483;35051231;35580925;36010968;36241641;36284347;36333305;36373674;37485814", "class_list": "", "function": "ATRX proximal protein associations boast roles beyond histone deposition. Publication Status: Online-Only, [RefSeq, PubMed]; Actionable loss of SLF2 drives B-cell lymphomagenesis and impairs the DNA damage response., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance (PubMed:25931565). The SLF1-SLF2 complex acts to link RAD18 with the SMC5-SMC6 complex at replication-coupled interstrand cross-links (ICL) and DNA double-strand breaks (DSBs) sites on chromatin during DNA repair in response to stalled replication forks (PubMed:25931565). Promotes the recruitment of the SMC5-SMC6 complex to DNA lesions (PubMed:25931565). Plays a role in SMC5-SMC6 complex recruitment for viral restriction. Forms a complex with SIMC1 and this complex is required to recruit SMC5-SMC6 complex to PML nuclear bodies and sites of viral replication (PubMed:36373674)., [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": 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": 1, "reported_glycation": 0, "reported_snv": 22, "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": "A8K950;B1AL17;Q5W0L8;Q6GMU6;Q9NPE8", "ec_number_list": "", "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016605 PML body;GO:0000785 chromatin;GO:0035861 site of double-strand break", "go_biological_process": "GO:1990166 protein localization to site of double-strand break;GO:0032204 regulation of telomere maintenance;GO:0016925 protein sumoylation;GO:0006974 DNA damage response;GO:0031334 positive regulation of protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q8IX21-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N4H0-1", "uniprot_id": "SPA6L_HUMAN", "mass": 45058.0, "length": 392, "protein_name": "Spermatogenesis associated 6-like protein", "gene_name": "SPATA6L", "organism": "Human", "refseq_name": "spermatogenesis associated 6-like protein isoform d", "refseq_ac": "NP_001034484", "gene_names_uniprotkb": "SPATA6L; C9orf68", "gene_names_refseq": "C9orf68; SPATA6L; bA6J24.2", "protein_names_uniprotkb": "Spermatogenesis associated 6-like protein", "protein_names_refseq": "spermatogenesis associated 6-like protein isoform d; spermatogenesis associated 6-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55064)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;24715725;29557506;30379171;33091337;34509645;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": 2, "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": "B4DIY4;Q5JVJ5;Q8IY90", "ec_number_list": "", "go_molecular_function": "GO:0032027 myosin light chain binding", "go_cellular_component": "GO:0120212 sperm head-tail coupling apparatus", "go_biological_process": "GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8N4H0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TDD2-1", "uniprot_id": "SP7_HUMAN", "mass": 44994.0, "length": 431, "protein_name": "Transcription factor Sp7", "gene_name": "SP7", "organism": "Human", "refseq_name": "transcription factor Sp7 isoform a", "refseq_ac": "NP_001166938", "gene_names_uniprotkb": "SP7; OSX", "gene_names_refseq": "OI11; OI12; OSX; SP7; osterix", "protein_names_uniprotkb": "Transcription factor Sp7; Zinc finger protein osterix", "protein_names_refseq": "transcription factor Sp7 isoform a; zinc finger protein osterix", "tax_id": 9606, "disease": "osteogenesis imperfecta type 12 (Disease Ontology:DOID:0110348); aortic valve stenosis (Disease Ontology:DOID:1712)", "pathway": " (hsa:121340); (R-HSA-8940973)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "11106645;11237011;11545733;11792318;12231506;12391164;12529404;12674332;14604442;14765127;15474293;16025100;16099986;16467978;16751105;18477452;19389811;19801668;20579626;20682789;20686481;20877012;21173110;23457570;25728276;25865393;26967290;27498006;27797343;29393594;29632046;30379171;31375868;32387766;35051231;35628456;36672941;36881265;38070324;39337587;39800889;7891679;9182762", "class_list": "", "function": "Epigenetic Repression of RUNX2 and OSX Promoters Controls the Nonmineralized State of the Periodontal Ligament. Publication Status: Online-Only, [RefSeq, PubMed]; Gene expression of osterix was not detected in dental follicle cells during osteogenic differentiation., [RefSeq, PubMed]; LncRNA urothelial cancer associated 1 promotes the osteogenic differentiation of human periodontal ligament stem cells by regulating the miR-96-5p/Osx axis., [RefSeq, PubMed]; Regulation of Skeletal Development and Maintenance by Runx2 and Sp7. Review article Publication Status: Online-Only, [RefSeq, PubMed]; SP7: from Bone Development to Skeletal Disease. Review article, [RefSeq, PubMed]; Sp7 Action in the Skeleton: Its Mode of Action, Functions, and Relevance to Skeletal Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Sp7 expression in humans is largely confined to osteoblasts and chondrocytes, both of which differentiate from the mesenchymal lineage. Of the two protein isoforms, the short isoform is most abundant. Publication Status: Online-Only, [RefSeq, PubMed]; Telomerase accelerates osteogenesis of bone marrow stromal stem cells by upregulation of CBFA1, osterix, and osteocalcin., [RefSeq, PubMed]; The identification and initial characterization of the SP7 gene will facilitate the study of the molecular regulation of osteoblast differentiation in humans., [RefSeq, PubMed]; This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]., [RefSeq]; Transcriptional activator essential for osteoblast differentiation (PubMed:23457570). Binds to SP1 and EKLF consensus sequences and to other G/C-rich sequences (By similarity)., [UniProtKB, PubMed, UniProtKB]", "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": 5, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KY26;Q3MJ72;Q7Z718", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;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:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0071344 diphosphate metabolic 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:0060218 hematopoietic stem cell differentiation", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q8TDD2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6IQ49-1", "uniprot_id": "SDE2_HUMAN", "mass": 49742.0, "length": 451, "protein_name": "Splicing regulator SDE2", "gene_name": "SDE2", "organism": "Human", "refseq_name": "splicing regulator SDE2", "refseq_ac": "NP_689821", "gene_names_uniprotkb": "SDE2; C1orf55", "gene_names_refseq": "C1orf55; SDE2; dJ671D7.1", "protein_names_uniprotkb": "Splicing regulator SDE2; Replication stress response regulator SDE2", "protein_names_refseq": "SDE2 telomere maintenance homolog; UPF0667 protein C1orf55; protein SDE2 homolog; replication stress response regulator SDE2; splicing regulator SDE2", "tax_id": 9606, "disease": "", "pathway": " (hsa:163859); (R-HSA-72163)", "pathway_count": 2, "publication_count": 138, "publication_id_list": "10882114;11014198;11101529;11233976;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16809785;17081983;17095540;17332742;17525332;17606899;18220336;18322460;18452278;18593880;18669648;19103666;19165350;19536130;19651622;20068231;20423332;20980672;21536652;2176635;22110043;22365833;22959432;22961380;23186163;23222130;23236153;23301498;23345524;24196718;24304693;24366607;24448447;24737827;24914973;25555158;25576301;2558966;25810538;25880248;25892735;26154972;26385511;26420826;26969736;26992070;27377154;27459055;27600516;27683217;27906959;28062851;28076346;28502770;28781166;28832583;28834231;28904123;28947618;29301961;29351928;29360106;29361316;29393594;29493099;29557506;2963332;30315277;30429286;30698750;30705154;30728453;30765414;30779550;30833945;30975767;31154438;31217245;31409651;31717259;31844290;32157095;32179686;32265295;32329775;32357974;32387766;32488085;32494006;32502341;32938616;32938750;32983136;33127907;33243851;33298915;33446560;33592498;33691108;33717175;33912179;33968037;33981976;34171305;34301950;34365507;34822310;35051231;35154160;35385551;35580925;35850305;36284347;3757028;39531497;40596516;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Collectively, this study uncovers a new role for CRL4CDT2 in protecting genomic integrity against replication stress via regulated proteolysis of PCNA-associated SDE2 and provides insights into how an integrated UBL domain within linear polypeptide sequence controls protein stability and function. Publication Status: Online-Only, [RefSeq, PubMed]; Conditional degradation of SDE2 by the Arg/N-End rule pathway regulates stress response at replication forks., [RefSeq, PubMed]; Extended DNA-binding interfaces beyond the canonical SAP domain contribute to the function of replication stress regulator SDE2 at DNA replication forks., [RefSeq, PubMed]; Inhibits translesion DNA synthesis by preventing monoubiquitination of PCNA, this is necessary to counteract damage due to ultraviolet light-induced replication stress (PubMed:27906959). SDE2 is cleaved following PCNA binding, and its complete degradation is necessary to allow S-phase progression following DNA damage (PubMed:27906959)., [UniProtKB, PubMed]; Plays a role in pre-mRNA splicing by facilitating excision of relatively short introns featuring weak 3'-splice sites (ss) and high GC content (PubMed:34365507). May recruit CACTIN to the spliceosome (By similarity)., [UniProtKB, PubMed, UniProtKB]; Plays a role in ribosome biogenesis by enabling SNORD3- and SNORD118-dependent cleavage of the 47S rRNA precursor (PubMed:34365507). Binds ncRNA (non-coding RNA) including the snoRNAs SNORD3 and SNORD118 (PubMed:34365507)., [UniProtKB, PubMed]; SDE2 integrates into the TIMELESS-TIPIN complex to protect stalled replication forks. Publication Status: Online-Only, [RefSeq, PubMed]; SDE2 is an essential gene required for ribosome biogenesis and the regulation of alternative splicing., [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": 5, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 8, "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": "A8K4P3;Q5TD36;Q6ZS26;Q8NAG7", "ec_number_list": "", "go_molecular_function": "GO:0003684 damaged DNA binding;GO:0030515 snoRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0016485 protein processing;GO:0051301 cell division;GO:0006260 DNA replication;GO:0016567 protein ubiquitination;GO:0034644 cellular response to UV", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "Q6IQ49-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92629-1", "uniprot_id": "SGCD_HUMAN", "mass": 32071.0, "length": 289, "protein_name": "Delta-sarcoglycan", "gene_name": "SGCD", "organism": "Human", "refseq_name": "delta-sarcoglycan isoform 1", "refseq_ac": "NP_000328", "gene_names_uniprotkb": "SGCD", "gene_names_refseq": "35DAG; CMD1L; DAGD; LGMDR6; SG-delta; SGCDP; SGCD; SGD", "protein_names_uniprotkb": "Delta-sarcoglycan; 35 kDa dystrophin-associated glycoprotein; 35DAG; Delta-SG", "protein_names_refseq": "35 kDa dystrophin-associated glycoprotein; delta-SG; delta-sarcoglycan isoform 1; dystrophin associated glycoprotein, delta sarcoglycan; placental delta sarcoglycan; sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); autosomal recessive limb-girdle muscular dystrophy type 2F (Disease Ontology:DOID:0110280); dilated cardiomyopathy 1L (Disease Ontology:DOID:0110436); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:6444); (R-HSA-9913351)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10022829;10189375;10441321;10545507;10629222;10893187;10932245;10942431;10974018;11237011;11352924;11430802;11495720;12189167;1319059;15175026;16524571;17905726;18764929;19346169;19946898;20044576;22159078;22223806;25474115;26720722;26968544;28412737;32157095;3282674;35051231;37074911;7527495;7547961;7592992;7844150;7925941;8043271;8268918;8349731;8576247;8607994;8627307;8798547;8842738;8845841;8943294;9214383;9405466;9412493;9652404;9832045;9864373", "class_list": "", "function": "CC genotype of the delta-sarcoglycan gene polymorphism rs13170573 is associated with obstructive sleep apnea in the Chinese population Publication Status: Online-Only, [RefSeq, PubMed]; Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix., [UniProtKB]; Dilated cardiomyopathy mutations in delta-sarcoglycan can exert a dominant negative effect on dystrophin-glycoprotein complex function leading to myocardial mechanical instability that may underlie the pathogenesis of delta-sarcoglycan-associated DCM., [RefSeq, PubMed]; Haplotype -_G composed of c.-100~-110 and A848G confers higher susceptibility to dilated cardiomyopathy in the Mongoloid population. Publication Status: Online-Only, [RefSeq, PubMed]; Study identified 2 non-synonymous missense mutations: c.C652T, p.R218W in ACVRL1, c.C717G, p.D239E in SGCD in Chinese population with total anomalous pulmonary venous return., [RefSeq, PubMed]; The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [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": 7, "reported_interactions": 0, "missing_score": 9753, "biomarker_type": "", "glycan_count": 10, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K9S9;Q53XA5;Q99644", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016010 dystrophin-associated glycoprotein complex;GO:0000139 Golgi membrane;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0031594 neuromuscular junction", "go_biological_process": "GO:0060047 heart contraction;GO:0007517 muscle organ development;GO:0048738 cardiac muscle tissue development;GO:0043010 camera-type eye development", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q92629-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969X2-1", "uniprot_id": "SIA7F_HUMAN", "mass": 38068.0, "length": 333, "protein_name": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "gene_name": "ST6GALNAC6", "organism": "Human", "refseq_name": "alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 isoform b", "refseq_ac": "NP_001273928", "gene_names_uniprotkb": "ST6GALNAC6; PRO1359; SIAT7F", "gene_names_refseq": "SIAT7-F; SIAT7F; ST6GALNAC6; ST6GALNACVI", "protein_names_uniprotkb": "Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6; 2.4.99.-; GalNAc alpha-2,6-sialyltransferase VI; SIAT7-F; ST6GalNAc VI; ST6GalNAcVI; Sialyltransferase 7F; hST6GalNAc VI", "protein_names_refseq": "CMP-NeuAC:(beta)-N-acetylgalactosaminide (alpha)2,6-sialyltransferase member VI; ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6; ST6 -N-acetylgalactosaminide alpha-26-sialyltransferase 6; ST6 GalNAc alpha-2,6-sialyltransferase 6; alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 isoform b; alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6; epididymis secretory sperm binding protein; galNAc alpha-2,6-sialyltransferase VI; sialyltransferase 7F; sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F", "tax_id": 9606, "disease": "", "pathway": " (hsa:30815); (R-HSA-4085001); (R-HSA-9037629); (R-HSA-9840309)", "pathway_count": 4, "publication_count": 103, "publication_id_list": "10.1101/2023.09.13.557529;10191093;10206952;10212226;10330343;10334995;10405317;10431835;10504389;10536037;10581036;10601645;10742600;10748143;10749855;10861246;10947946;10993897;11018043;11062056;11237011;11279095;11283017;11528398;11602804;11751519;11916006;11956206;12107078;12177386;12222957;12235148;12473780;12603328;12668675;12678917;12743242;12815231;12888565;12975309;14688233;14962670;15136692;15158662;1520296;15213228;15501818;15576474;15843597;1601877;16147865;16207893;16237198;16934889;1702034;17123352;1716630;1740457;1756715;17760270;18632803;1977660;19797320;20547865;21081508;2118655;22692205;22735313;23290777;23746551;23882130;24498430;24953560;29802621;3136930;33912179;33968037;34357683;34982351;7252518;7559389;7876235;7890749;8207002;8240337;8288606;8333853;8591035;8611500;8631981;8643456;8830034;8910600;8920913;8985184;9010752;9030544;9125199;9199191;9219535;9582303;9822625;9826427", "class_list": "glycogene;glycosyltransferase", "function": "Novel substrate specificity of ST6GalNAc VI, which is responsible for the synthesis of disialyl Lea but not for alpha-series gangliosides in human colon tissues, [RefSeq, PubMed]; ST6GALNAC6 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell or cell-extracellular matrix interactions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM, Mar 2008]., [RefSeq]; ST6GalNAc-VI and disialylgalactosylgloboside were found in proximal tubule epithelial cells in normal kidney tissues, [RefSeq, PubMed]; Transfers the sialyl group (N-acetyl-alpha-neuraminyl or NeuAc) from CMP-NeuAc onto glycoproteins and glycolipids, forming an alpha-2,6-linkage. Produces branched type disialyl structures by transfer of a sialyl group onto the GalNAc or GlcNAc residue inside backbone core chains having a terminal sialic acid with an alpha-2,3-linkage on Gal. ST6GalNAcVI prefers glycolipids to glycoproteins, predominantly catalyzing the biosynthesis of ganglioside GD1alpha from GM1b (PubMed:12668675, PubMed:17123352). Besides GMb1, MSGG and other glycolipids, it shows activity towards sialyl Lc4Cer generating disialyl Lc4Cer, which can lead to the synthesis of disialyl Lewis a (Le(a)), suggested to be a cancer-associated antigen (PubMed:12668675). Also has activity toward GD1a and GT1b, and can generate DSGG (disialylgalactosylgloboside) from MSGG (monosialylgalactosylgloboside) (By similarity)., [UniProtKB, UniProtKB, 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": 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": 382, "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": "B3KQ01;Q5T9C4;Q5T9C5;Q9H8A2;Q9ULB8", "ec_number_list": "2.4.3.7;2.4.99.-;2.4.3.3", "go_molecular_function": "GO:0008373 sialyltransferase activity;GO:0001665 alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006688 glycosphingolipid biosynthetic process;GO:0009101 glycoprotein biosynthetic process;GO:0006687 glycosphingolipid metabolic process;GO:0009311 oligosaccharide metabolic process;GO:0009100 glycoprotein metabolic process", "synthesized_glycan_count": 550, "hit_score": 10.7, "record_id": "Q969X2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZMC9-1", "uniprot_id": "SIG15_HUMAN", "mass": 35653.0, "length": 328, "protein_name": "Sialic acid-binding Ig-like lectin 15", "gene_name": "SIGLEC15", "organism": "Human", "refseq_name": "sialic acid-binding Ig-like lectin 15 precursor", "refseq_ac": "NP_998767", "gene_names_uniprotkb": "SIGLEC15; CD33L3", "gene_names_refseq": "CD33L3; HsT1361; SIGLEC-15; SIGLEC15", "protein_names_uniprotkb": "Sialic acid-binding Ig-like lectin 15; CD33 antigen-like 3; Siglec-15", "protein_names_refseq": "CD33 antigen-like 3; CD33 molecule-like 3; sialic acid-binding Ig-like lectin 15 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:284266); (R-HSA-2172127)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10049942;10449773;10604985;10940905;11237011;11602640;12668644;12776204;14702039;14707061;15265913;15557162;15884055;15940674;16177791;16623599;16920917;16933987;17012248;17110943;17202323;17483134;17641029;18624290;18629938;19858347;20093094;20865034;20890284;23035012;24275569;30833750;31900164;32112821;32157095;32938616;33441719;33537076;33666065;33951750;34094685;34328657;35051231;35318648;37311743;37674198;37843557;38072971;38169162;38988824;9490415;9625766;9655483", "class_list": "glycogene", "function": "Binds sialylated glycoproteins., [UniProtKB, PubMed]; Hemical biology has advanced our understanding of the nature of Siglec-15 ligands, but the exact nature of Siglec-15 ligand depends on the biological context, leaving plenty of room for further exploration Review article Publication Status: Online-Only, [RefSeq, PubMed]; Non-spatial and spatial heterogeneity revealed a suppressive immune feature of Siglec-15 in lung adenocarcinomas. Publication Status: Online-Only, [RefSeq, PubMed]; SIGLEC15, negatively correlated with PD-L1 in HCC, could induce CD8+ T cell apoptosis to promote immune evasion. Publication Status: Online-Only, [RefSeq, PubMed]; Siglec 15 as a biomarker or a druggable molecule for non-small cell lung cancer. Review article, [RefSeq, PubMed]; Siglec-15 is a potential target for normalization cancer immunotherapy., [RefSeq, PubMed]; Siglec-15 on macrophages suppress the immune microenvironment in patients with PD-L1 negative non-metastasis lung adenocarcinoma., [RefSeq, PubMed]; Siglec-15 recognizes the tumoral sTn antigen and transduces a signal for enhanced TGF-beta secretion in TAMs, [RefSeq, PubMed]; Siglec-15 regulates cell proliferation, migration and invasion in bladder cancer., [RefSeq, PubMed]; The diverse functions of Siglec-15 in bone remodeling and antitumor responses. 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": 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": 2, "reported_glycation": 0, "reported_snv": 487, "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": "A8K2Y5;B4DVQ9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0045124 regulation of bone resorption;GO:0032956 regulation of actin cytoskeleton organization;GO:2001204 regulation of osteoclast development", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q6ZMC9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZMV5-1", "uniprot_id": "P4R3C_HUMAN", "mass": 95804.0, "length": 832, "protein_name": "Protein PPP4R3C", "gene_name": "PPP4R3C", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "PPP4R3C; PPP4R3CP; SMEK3P", "gene_names_refseq": "", "protein_names_uniprotkb": "Protein PPP4R3C; SMEK homolog 3; Serine/threonine-protein phosphatase 4 regulatory subunit 3C", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "29557506;30315122;31844290;32357974;33298915;35051231;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": 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": "A0A1B0GTN1;Q96M31", "ec_number_list": "", "go_molecular_function": "GO:0072542 protein phosphatase activator activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0030289 protein phosphatase 4 complex", "go_biological_process": "GO:0006974 DNA damage response;GO:2000779 regulation of double-strand break repair", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q6ZMV5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BTD1-1", "uniprot_id": "SHAS3_HUMAN", "mass": 13317.0, "length": 123, "protein_name": "Putative uncharacterized protein SHANK2-AS3", "gene_name": "SHANK2-AS3", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "SHANK2-AS3; C11orf76", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein SHANK2-AS3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q9BTD1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BX95-1", "uniprot_id": "SGPP1_HUMAN", "mass": 49108.0, "length": 441, "protein_name": "Sphingosine-1-phosphate phosphatase 1", "gene_name": "SGPP1", "organism": "Human", "refseq_name": "sphingosine-1-phosphate phosphatase 1", "refseq_ac": "NP_110418", "gene_names_uniprotkb": "SGPP1; SPP1", "gene_names_refseq": "SGPP1; SPP-1; SPPase1", "protein_names_uniprotkb": "Sphingosine-1-phosphate phosphatase 1; 3.1.3.-; SPP-1; SPPase1; Sphingosine-1-phosphatase 1; Sphingosine-1-phosphate phosphohydrolase 1; Spp1; hSPP1; hSPPase1", "protein_names_refseq": "hSPP1; hSPPase1; sphingosine-1-phosphatase 1; sphingosine-1-phosphate phosphatase 1; sphingosine-1-phosphate phosphohydrolase 1; spp1", "tax_id": 9606, "disease": "", "pathway": " (hsa:81537); (R-HSA-9845614)", "pathway_count": 2, "publication_count": 114, "publication_id_list": "11018465;11356846;11756451;12411432;12815058;15180992;16782891;16940153;17081983;17322306;17379599;17382292;17713573;18220336;18452278;18558101;18578522;18583713;18619555;18669648;18691976;18707149;18767875;19007248;19415658;19651622;19664994;20058876;20068046;20068231;20089856;20112406;20166139;20699116;20798685;21406692;22706990;23186163;23481700;23721920;24275569;25166914;25286108;25418920;25469497;25576301;25645385;26154972;26239167;26992070;27126290;27846572;27862975;27920218;28063628;28228285;28514659;28832583;28834231;28860189;28904123;29229990;29242379;29375197;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30090628;30315122;30429286;30524438;30575723;30635364;30779550;30833945;31092671;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32502341;32938616;32983136;33125091;33298915;33592498;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34357683;34932366;35051231;35081855;35132862;35561310;35580925;36010968;36241641;36284347;37938771;9705349", "class_list": "", "function": "MicroRNA-656-3p inhibits colorectal cancer cell migration, invasion, and chemo-resistance by targeting sphingosine-1-phosphate phosphatase 1., [RefSeq, PubMed]; Sevoflurane suppresses cell viability and invasion and promotes cell apoptosis in colon cancer by modulating exosomemediated circHMGCS1 via the miR34a5p/SGPP1 axis., [RefSeq, PubMed]; Specifically dephosphorylates sphingosine 1-phosphate (S1P), dihydro-S1P, and phyto-S1P. Does not act on ceramide 1-phosphate, lysophosphatidic acid or phosphatidic acid (PubMed:16782891). Sphingosine-1-phosphate phosphatase activity is needed for efficient recycling of sphingosine into the sphingolipid synthesis pathway (PubMed:11756451, PubMed:12815058, PubMed:16782891). Regulates the intracellular levels of the bioactive sphingolipid metabolite S1P that regulates diverse biological processes acting both as an extracellular receptor ligand or as an intracellular second messenger (PubMed:11756451, PubMed:12815058, PubMed:16782891). Involved in efficient ceramide synthesis from exogenous sphingoid bases. Converts S1P to sphingosine, which is readily metabolized to ceramide via ceramide synthase. In concert with sphingosine kinase 2 (SphK2), recycles sphingosine into ceramide through a phosphorylation/dephosphorylation cycle (By similarity). Regulates endoplasmic-to-Golgi trafficking of ceramides, resulting in the regulation of ceramide levels in the endoplasmic reticulum, preferentially long-chain ceramide species, and influences the anterograde membrane transport of both ceramide and proteins from the endoplasmic reticulum to the Golgi apparatus (PubMed:16782891). The modulation of intracellular ceramide levels in turn regulates apoptosis (By similarity). Via S1P levels, modulates resting tone, intracellular Ca(2+) and myogenic vasoconstriction in resistance arteries (PubMed:18583713). Also involved in unfolded protein response (UPR) and ER stress-induced autophagy via regulation of intracellular S1P levels (PubMed:18583713, PubMed:20798685). Involved in the regulation of epidermal homeostasis and keratinocyte differentiation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP1 catalyzes the degradation of S1P via salvage and recycling of sphingosine into long-chain ceramides (Mandala et al., 2000 [PubMed 10859351]; Le Stunff et al., 2007 [PubMed 17895250]).[supplied by OMIM, Jun 2009]., [RefSeq]; Sphingosine-1-phosphate phosphatase 1 has a role in epidermal growth factor-induced chemotaxis, [RefSeq, PubMed]; Sphingosine-1-phosphate phosphatase 1 plays roles in the regulation of intra- and extracellular sphingosine-1-phosphate levels and cell viability, [RefSeq, PubMed]; Study has revealed miR-27a as a tumor suppressor and has identified SGPP1 and Smad2 as novel targets of miR-27a, linking to STAT3 for regulating cancer cell proliferation, apoptosis and migration in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The sequential expression and localization of the endogenous S1P regulators SGPP-1 and SGPL-1 and highlight their contribution to the sphingolipid rheostat in inflammation., [RefSeq, PubMed]; The two gastric cancer cells transfected with pEF-SGPP1 exhibited a slower rate of growth with less adhesion. Thus, our findings provided evidence that SGPP1 may serve as a prognostic biomarker for patients with advanced gastric cancers. Erratum:[Oncol Rep. 2018 Apr;39(4):2051. doi: 10.3892/or.2018.6269. PMID: 29484410], [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": 1, "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": "B2RAH0;Q9H189", "ec_number_list": "3.1.3.-;3.1.3.4;3.1.3.106;3.6.1.75", "go_molecular_function": "GO:0070780 dihydrosphingosine-1-phosphate phosphatase activity;GO:0042392 sphingosine-1-phosphate phosphatase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006670 sphingosine metabolic process;GO:0030149 sphingolipid catabolic process;GO:0045616 regulation of keratinocyte differentiation;GO:0035621 ER to Golgi ceramide transport;GO:0045682 regulation of epidermis development", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q9BX95-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZQ2-3", "uniprot_id": "SHP1L_HUMAN", "mass": 72632.0, "length": 653, "protein_name": "Testicular spindle-associated protein SHCBP1L", "gene_name": "SHCBP1L", "organism": "Human", "refseq_name": "testicular spindle-associated protein SHCBP1L isoform 2", "refseq_ac": "NP_001332857", "gene_names_uniprotkb": "SHCBP1L; C1orf14", "gene_names_refseq": "C1orf14; GE36; SHCBP1L", "protein_names_uniprotkb": "Testicular spindle-associated protein SHCBP1L; SHC SH2 domain-binding protein 1-like protein", "protein_names_refseq": "SHC SH2 domain-binding protein 1-like protein; SHC SH2-domain binding protein 1-like; testicular spindle-associated protein SHCBP1L isoform 2; testicular spindle-associated protein SHCBP1L", "tax_id": 9606, "disease": "", "pathway": " (hsa:81626)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11318611;18220336;24557841;29242379;31844290;35051231", "class_list": "", "function": "SHCBP1L is a conserved mammalian protein predominantly expressed in male germ cells and it maintains spindle stability during meiosis in testis., [RefSeq, PubMed]; Testis-specific spindle-associated factor that plays a role in spermatogenesis. In association with HSPA2, participates in the maintenance of spindle integrity during meiosis in male germ cells., [UniProtKB, UniProtKB]; This gene encodes a Src homology 2 domain-binding protein 1-like protein. The encoded protein interacts with heat shock 70 kDa protein 2 and may be involved in maintaining spindle integrity during meiosis. This gene is located in region of chromoso0me 1 encompassing a prostate cancer susceptibility locus. [provided by RefSeq, Sep 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": 2, "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": "Q4G195;Q9BZQ3;Q9H2B6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0072687 meiotic spindle", "go_biological_process": "GO:2001252 positive regulation of chromosome organization;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0007112 male meiosis cytokinesis", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9BZQ2-3", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H5Y7-1", "uniprot_id": "SLIK6_HUMAN", "mass": 95110.0, "length": 841, "protein_name": "SLIT and NTRK-like protein 6", "gene_name": "SLITRK6", "organism": "Human", "refseq_name": "SLIT and NTRK-like protein 6 precursor", "refseq_ac": "NP_115605", "gene_names_uniprotkb": "SLITRK6", "gene_names_refseq": "DFNMYP; SLITRK6", "protein_names_uniprotkb": "SLIT and NTRK-like protein 6", "protein_names_refseq": "4832410J21Rik; SLIT and NTRK-like protein 6 precursor; SLIT and NTRK-like protein 6; slit and trk like gene 6", "tax_id": 9606, "disease": "high myopia-sensorineural deafness syndrome (Disease Ontology:DOID:0111628); sensorineural hearing loss (Disease Ontology:DOID:10003)", "pathway": " (hsa:84189); (R-HSA-388844)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;14557068;15750591;19252495;20139422;21262467;21940441;22286174;22357843;23345436;23543054;23584533;23946138;24190977;25385546;25813380;25908590;27530937;29393594;29551497;29557506;32037697;32350084;33968037;35051231;35251023;37219677;37353040;7796809;9624153", "class_list": "", "function": "Analysis of two exons of SLITRK6 gene in a Moroccan family identify a novel single deleterious mutation c.696delG, p.Trp232Cysfs*10 at homozygous state in the exon 2 of the SLITRK6, a gene reported to cause deafness and myopia in various populations., [RefSeq, PubMed]; Differential expression of SLITRK6 gene as a potential therapeutic target for urothelial carcinoma in particular upper tract cancer., [RefSeq, PubMed]; Human cytomegalovirus downregulates SLITRK6 expression through IE2., [RefSeq, PubMed]; Regulator of neurite outgrowth required for normal hearing and vision., [UniProtKB, PubMed]; SLITRK6 plays a crucial role in the development of normal hearing as well as vision in humans and in mice and that its disruption leads to a syndrome characterized by severe myopia and deafness., [RefSeq, PubMed]; SLITRK6 promotes the progression of lung adenocarcinoma by regulating PI3K/AKT/mTOR signaling and Warburg effect., [RefSeq, PubMed]; The role of SLITRK6 in the pathogenesis of Tourette syndrome: From the conclusion of a family-based study in the Chinese Han population., [RefSeq, PubMed]; This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. This protein functions as a regulator of neurite outgrowth required for normal hearing and vision. Mutations in this gene are a cause of myopia and deafness. [provided by RefSeq, Dec 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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "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": "A8K9S8;Q495Q0;Q6AW93;Q9HAA8;Q9NT60", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0007409 axonogenesis;GO:0007416 synapse assembly;GO:0007601 visual perception;GO:0051965 positive regulation of synapse assembly;GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9H5Y7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86T20-1", "uniprot_id": "SIM29_HUMAN", "mass": 11550.0, "length": 102, "protein_name": "Small integral membrane protein 29", "gene_name": "SMIM29", "organism": "Human", "refseq_name": "small integral membrane protein 29 isoform 1", "refseq_ac": "NP_001008703", "gene_names_uniprotkb": "SMIM29; C6orf1; LBH", "gene_names_refseq": "C6orf1; LBH; SMIM29", "protein_names_uniprotkb": "Small integral membrane protein 29; Protein LBH", "protein_names_refseq": "small integral membrane protein 29 isoform 1; uncharacterized protein C6orf1", "tax_id": 9606, "disease": "", "pathway": " (hsa:221491)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "10036196;11237011;19913121;20628086;33968037;34357683", "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": 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": "A0A1C7CYX6;A8K299", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q86T20-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H930-4", "uniprot_id": "SP14L_HUMAN", "mass": 67005.0, "length": 580, "protein_name": "Nuclear body protein SP140-like protein", "gene_name": "SP140L", "organism": "Human", "refseq_name": "nuclear body protein SP140-like protein isoform 1", "refseq_ac": "NP_612411", "gene_names_uniprotkb": "SP140L", "gene_names_refseq": "SP140L", "protein_names_uniprotkb": "Nuclear body protein SP140-like protein", "protein_names_refseq": "SP140 nuclear body protein like; SP140L-1 protein; SP140L-2 protein; SP140L-3 protein; nuclear body protein SP140-like protein isoform 1; nuclear body protein SP140-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:93349)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "20068231;20800603;23186163;25576301;26154972;26347895;26811146;27397612;27846572;28904123;29242379;29485866;29493099;31217245;31844290;32157095;32357974;32488085;32938616;32983136;33298915;33592498;33912179;33936100;33968037;33981976;34185709;35051231;35580925;36010968;36215666;36284347;37938771", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Our results show that SP140L is phylogenetically recent member of SP100 proteins and acts as an autoantigen in primary biliary cirrhosis patients., [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": 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": "Q2M375;Q4ZG65;Q9BSP3", "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:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0006952 defense response", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9H930-4", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86UD5-1", "uniprot_id": "SL9B2_HUMAN", "mass": 57564.0, "length": 537, "protein_name": "Sodium/hydrogen exchanger 9B2", "gene_name": "SLC9B2", "organism": "Human", "refseq_name": "sodium/hydrogen exchanger 9B2 isoform 3", "refseq_ac": "NP_001287685", "gene_names_uniprotkb": "SLC9B2; NHA2; NHEDC2", "gene_names_refseq": "NHA2; NHE10; NHEDC2; SLC9B2", "protein_names_uniprotkb": "Sodium/hydrogen exchanger 9B2; NHE domain-containing protein 2; Na(+)/H(+) exchanger NHA2; Na(+)/H(+) exchanger-like domain-containing protein 2; Sodium/hydrogen exchanger-like domain-containing protein 2; Solute carrier family 9 subfamily B member 2", "protein_names_refseq": "NHE domain-containing protein 2; Na(+)/H(+) exchanger-like domain-containing protein 2; Na+/H+ exchanger domain containing 2; mitochondrial Na(+)/H(+) exchanger NHA2; mitochondrial sodium/hydrogen exchanger 9B2; mitochondrial sodium/hydrogen exchanger NHA2; sodium/hydrogen exchanger 9B2 isoform 3; sodium/hydrogen exchanger-like domain-containing protein 2; solute carrier family 9 subfamily B member 2; solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2; solute carrier family 9, subfamily B (cation proton antiporter 2), member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:133308); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 121, "publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;11182090;11237011;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17381423;17448995;17699613;17881003;17988971;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20053353;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22773952;22946059;22948142;2298749;23112050;2321095;23481700;23616951;23720317;24275569;24366607;24715725;2536303;25880248;26154972;26359375;26562072;27920218;28071645;28154142;28228285;28514659;28790369;28832583;28904123;29242379;29769354;30429286;31154438;31844290;31848261;32357974;32387766;32488085;32938616;33298915;34357683;34405274;34509645;35051231;35494241;35580925;36177733;36581221;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Allosteric links between the hydrophilic N-terminus and transmembrane core of human Na[+] /H[+] antiporter NHA2., [RefSeq, PubMed]; Cluster of essential, highly conserved titratable residues located in an assembly region made of two discontinuous helices of inverted topology, each interrupted by an extended chain, [RefSeq, PubMed]; Electroneutral Na(+) Li(+)/H(+) antiporter that extrudes Na(+) or Li(+) in exchange for external protons across the membrane (PubMed:18000046, PubMed:18508966, PubMed:22948142, PubMed:28154142, PubMed:36177733). Uses the proton gradient/membrane potential to extrude sodium (PubMed:22948142). Contributes to the regulation of intracellular pH and sodium homeostasis (By similarity). Also able to mediate Na(+)/Li(+) antiporter activity in kidney (PubMed:22948142). May play a physiological role in renal tubular function and blood pressure homeostasis (By similarity). Plays an important role for insulin secretion and clathrin-mediated endocytosis in beta-cells (By similarity). Involved in sperm motility and fertility (By similarity). It is controversial whether SLC9B2 plays a role in osteoclast differentiation or not (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; NHA-oc/NHA2 displays the expected activities of a bona fide cation-proton antiporter and plays a key role(s) in normal osteoclast differentiation and function, [RefSeq, PubMed]; Na+/H+ antiporter genes may contribute to sodium-lithium countertransport activity and salt homeostasis in humans[NHA1 and NHA2], [RefSeq, PubMed]; Restricted to the distal convoluted tubule in the kidney, [RefSeq, PubMed]; Sodium hydrogen antiporters, such as NHEDC2, convert the proton motive force established by the respiratory chain or the F1F0 mitochondrial ATPase into sodium gradients that drive other energy-requiring processes, transduce environmental signals into cell responses, or function in drug efflux (Xiang et al., 2007 [PubMed 18000046]).[supplied by OMIM, Mar 2008]., [RefSeq]; The exchange activity of NHA2 (SLC9B2) is electroneutral, despite harboring the 2 conserved aspartic acid residues found in NapA and other bacterial homologues. The equivalent residue to K305 in human NHA2 has been replaced with arginine, which is a mutation that makes NapA electroneutral. A transmembrane embedded lysine residue is essential for electrogenic transport in Na(+)/H(+) antiporters., [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": 23, "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": "B5ME52;Q6ZMD8;Q96D95", "ec_number_list": "1.1.1.30;1.1.1.104;1.1.1.-", "go_molecular_function": "GO:0015385 sodium:proton antiporter activity;GO:0042802 identical protein binding;GO:0010348 lithium:proton antiporter activity;GO:0015297 antiporter activity;GO:0003858 3-hydroxybutyrate dehydrogenase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0034220 monoatomic ion transmembrane transport;GO:0072583 clathrin-dependent endocytosis;GO:0061178 regulation of insulin secretion involved in cellular response to glucose stimulus;GO:0006814 sodium ion transport", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "Q86UD5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NBX0-1", "uniprot_id": "SCPDL_HUMAN", "mass": 47151.0, "length": 429, "protein_name": "Saccharopine dehydrogenase-like oxidoreductase", "gene_name": "SCCPDH", "organism": "Human", "refseq_name": "saccharopine dehydrogenase-like oxidoreductase", "refseq_ac": "NP_057086", "gene_names_uniprotkb": "SCCPDH; CGI-49", "gene_names_refseq": "CGI-49; CGI49; NET11; SCCPDH", "protein_names_uniprotkb": "Saccharopine dehydrogenase-like oxidoreductase; 1.-.-.-", "protein_names_refseq": "epididymis secretory sperm binding protein; probable saccharopine dehydrogenase; saccharopine dehydrogenase-like oxidoreductase", "tax_id": 9606, "disease": "", "pathway": " (hsa:51097); (R-HSA-114608)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "1435334;14630798;15297306;18507432;20230923;20877624;23186163;23640497;24715725;25576301;25892735;26154972;26992070;27452731;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29557506;29632711;29769354;30315122;30410026;30429286;31092671;31154438;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34185709;34229054;34357683;34509645;34932366;35051231;35154160;35580925;36241641;37938771;38665916;6457647;8467233", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator) 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": 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": "Q8TAR0;Q9Y363", "ec_number_list": "1.8.3.2;2.3.2.13;3.4.21.46;4.1.2.13;1.8.3.5;1.-.-.-", "go_molecular_function": "GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005811 lipid droplet;GO:0016020 membrane", "go_biological_process": "GO:0009247 glycolipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q8NBX0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TEV8-1", "uniprot_id": "SMCR5_HUMAN", "mass": 15285.0, "length": 140, "protein_name": "Smith-Magenis syndrome chromosomal region candidate gene 5 protein", "gene_name": "SMCR5", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "SMCR5", "gene_names_refseq": "", "protein_names_uniprotkb": "Smith-Magenis syndrome chromosomal region candidate gene 5 protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11997338", "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": "Q8TEV8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96A28-1", "uniprot_id": "SLAF9_HUMAN", "mass": 32436.0, "length": 289, "protein_name": "SLAM family member 9", "gene_name": "SLAMF9", "organism": "Human", "refseq_name": "SLAM family member 9 isoform 2 precursor", "refseq_ac": "NP_001139644", "gene_names_uniprotkb": "SLAMF9; CD2F10; PRO4421", "gene_names_refseq": "CD2F-10; CD2F10; CD84-H1; CD84H1; SF2001; SLAMF9", "protein_names_uniprotkb": "SLAM family member 9; CD2 family member 10; CD2F-10; CD84 homolog 1; CD84-H1", "protein_names_refseq": "CD2 family member 10; CD84 homolog 1; SLAM family member 9 isoform 2 precursor; cluster of differentiation 2 antigen family member 10; cluster of differentiation 84 homolog 1; signaling lymphocytic activation molecule family member 2001; signaling lymphocytic activation molecule family member 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:89886)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11300479;11685473;12975309;31880316;35051231;35561310;39095516", "class_list": "", "function": "May play a role in the immune response., [UniProtKB, PubMed]; SLAMF9 is found on select subsets of antigen-presenting cells and promotes resistance to Salmonella infection., [RefSeq, PubMed]; The prognostic and immune significance of SLAMF9 in pan-cancer and validation of its role in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the signaling lymphocytic activation molecule family. The encoded protein is a cell surface molecule that consists of two extracellular immunoglobulin domains, a transmembrane domain and a short cytoplasmic tail that lacks the signal transduction motifs found in other family members. Alternative splicing results in multiple transcript variants.[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": 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": "Q5JRQ9;Q5JRR0;Q6UWG1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0009986 cell surface;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006955 immune response;GO:0042110 T cell activation", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q96A28-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y617-1", "uniprot_id": "SERC_HUMAN", "mass": 40423.0, "length": 370, "protein_name": "Phosphoserine aminotransferase", "gene_name": "PSAT1", "organism": "Human", "refseq_name": "phosphoserine aminotransferase isoform 2", "refseq_ac": "NP_066977", "gene_names_uniprotkb": "PSAT1; PSA", "gene_names_refseq": "EPIP; NLS2; PSAT1; PSATD; PSAT; PSA", "protein_names_uniprotkb": "Phosphoserine aminotransferase; 2.6.1.52; PSAT; Phosphohydroxythreonine aminotransferase", "protein_names_refseq": "endometrial progesterone-induced protein; phosphohydroxythreonine aminotransferase; phosphoserine aminotransferase isoform 2; phosphoserine transaminase", "tax_id": 9606, "disease": "PSAT deficiency (Disease Ontology:DOID:0050723); Neu-Laxova syndrome 2 (Disease Ontology:DOID:0080075)", "pathway": " (hsa:29968); (R-HSA-977347)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "10.1101/2023.09.13.557529;11054547;12393813;12633500;14654843;15193426;15536068;16120614;16580895;17322306;17436247;18221502;18342636;19235232;19531498;19608861;19664994;20068231;20106978;22617051;23186163;24366607;24715725;25152457;25576301;25645385;25880248;26154972;26416733;26703715;26992070;27543614;27600516;27893789;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29437277;29557506;30192525;30315122;30410026;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31903955;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32579715;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34171305;34229054;34509645;35051231;35138101;35318648;35580925;36010968;36241641;36851825;37627284;37938771;38665916;39199378;39407268;39433916;40281343;9188776", "class_list": "", "function": "Interplay between acetylation and ubiquitination controls PSAT1 protein stability in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in L-serine biosynthesis via the phosphorylated pathway, a three-step pathway converting the glycolytic intermediate 3-phospho-D-glycerate into L-serine (PubMed:36851825, PubMed:37627284). Catalyzes the second step, that is the pyridoxal 5'-phosphate-dependent transamination of 3-phosphohydroxypyruvate and L-glutamate to O-phosphoserine (OPS) and alpha-ketoglutarate (PubMed:36851825, PubMed:37627284). Acts as an inhibitor of ferroptosis in response to interferon-gamma (IFNG) by promoting GPX4 stability: following phosphorylation by CAMK2A, PSAT1 interacts with GPX4 and provides 2-oxoglutarate to EGLN3, leading to GPX4 hydroxylation and stability (PubMed:40281343)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Nucleotide sequence and enzymatic activity of two isoforms generated by alternative splicing; differential expression depending upon tissue specificity and cellular proliferation status, [RefSeq, PubMed]; Overexpression of phosphoserine aminotransferase is associated with colorectal cancer development Publication Status: Online-Only, [RefSeq, PubMed]; PSAT1 Promotes Metastasis via p-AKT/SP1/ITGA2 Axis in Estrogen Receptor-Negative Breast Cancer Cell. Publication Status: Online-Only, [RefSeq, PubMed]; PSAT1 is upregulated by METTL3 to attenuate high glucose-induced retinal pigment epithelial cell apoptosis and oxidative stress. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the class-V pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is a phosphoserine aminotransferase and decreased expression may be associated with schizophrenia. Mutations in this gene are also associated with phosphoserine aminotransferase deficiency. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, and 8. [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": 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": 2, "reported_glycation": 0, "reported_snv": 12, "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": "Q5T7G5;Q5T7G6;Q96AW2;Q9BQ12", "ec_number_list": "2.6.1.52", "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0004648 O-phospho-L-serine:2-oxoglutarate aminotransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0008615 pyridoxine biosynthetic process;GO:0006564 L-serine biosynthetic process;GO:0110076 negative regulation of ferroptosis", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q9Y617-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96HF1-1", "uniprot_id": "SFRP2_HUMAN", "mass": 33490.0, "length": 295, "protein_name": "Secreted frizzled-related protein 2", "gene_name": "SFRP2", "organism": "Human", "refseq_name": "secreted frizzled-related protein 2 precursor", "refseq_ac": "NP_003004", "gene_names_uniprotkb": "SFRP2; FKSG12; FRP2; PRO697; SARP1", "gene_names_refseq": "FRP-2; SARP1; SDF-5; SFRP2", "protein_names_uniprotkb": "Secreted frizzled-related protein 2; FRP-2; SARP-1; Secreted apoptosis-related protein 1; sFRP-2", "protein_names_refseq": "SARP-1; sFRP-2; secreted apoptosis related protein 1; secreted frizzled-related protein 2 precursor; testicular tissue protein Li 170", "tax_id": 9606, "disease": "myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:6423); (R-HSA-201681); (R-HSA-3772470)", "pathway_count": 3, "publication_count": 88, "publication_id_list": "10198061;10201374;10347172;11029007;11137016;11357136;11433302;11448771;11493532;11742004;12050670;12167704;12205098;12223464;12527209;12775774;12897152;12975309;14636582;14981260;15084453;15208637;15256437;15340161;15454084;15459103;15778503;15908424;16116452;16172602;16280981;16303743;16427602;16554443;16723543;16971168;17081983;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;27726376;29557506;29786170;30429286;31848261;32157095;32387766;35051231;35154160;36894665;36991319;37951508;38802858;39146934;9135132;9391078;9391096;9501980;9642118", "class_list": "", "function": "A primate-specific endogenous retroviral envelope protein sequesters SFRP2 to regulate human cardiomyocyte development., [RefSeq, PubMed]; Identification of epigenetic silencing of the SFRP2 gene in colorectal cancer as a clinical biomarker and molecular significance. Publication Status: Online-Only, [RefSeq, PubMed]; Novel method of differentiating human induced pluripotent stem cells to mature cardiomyocytes via Sfrp2. Publication Status: Online-Only, [RefSeq, PubMed]; Sfrp2 promotes renal dysfunction of diabetic kidney disease via modulating Fzd5-induced cytosolic calcium ion concentration and CaMKII/Mek/Erk pathway in mesangial cells., [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. SFRP2 may be important for eye retinal development and for myogenesis., [UniProtKB]; The DNA demethylation-regulated SFRP2 dictates the progression of endometriosis via activation of the Wnt/beta-catenin signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; 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. SFRPs act as soluble modulators of Wnt signaling. Methylation of this gene is a potential marker for the presence of 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KQR2;O14778;Q9HAP5", "ec_number_list": "", "go_molecular_function": "GO:0005178 integrin binding;GO:0017147 Wnt-protein binding;GO:0061133 endopeptidase activator activity;GO:0001968 fibronectin binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0007584 response to nutrient;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": 8.9, "record_id": "Q96HF1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96JF0-1", "uniprot_id": "SIAT2_HUMAN", "mass": 60158.0, "length": 529, "protein_name": "Beta-galactoside alpha-2,6-sialyltransferase 2", "gene_name": "ST6GAL2", "organism": "Human", "refseq_name": "beta-galactoside alpha-2,6-sialyltransferase 2 isoform a", "refseq_ac": "NP_001135823", "gene_names_uniprotkb": "ST6GAL2; KIAA1877; SIAT2", "gene_names_refseq": "SIAT2; ST6GAL2; ST6GalII", "protein_names_uniprotkb": "Beta-galactoside alpha-2,6-sialyltransferase 2; 2.4.3.1; Alpha 2,6-ST 2; CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,6-sialyltransferase 2; ST6Gal II; ST6GalII; Sialyltransferase 2; hST6Gal II", "protein_names_refseq": "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2, 6-sialyltransferase 2; ST6 beta-galactosamide alpha-2,6-sialyltranferase 2; alpha 2,6-ST 2; beta-galactoside alpha-2,6-sialyltransferase 2 isoform a; beta-galactoside alpha-2,6-sialyltransferase 2; beta-galactoside alpha-2,6-sialyltransferase II; sialyltransferase 2 (monosialoganglioside sialyltransferase)", "tax_id": 9606, "disease": "", "pathway": " (hsa:84620); (R-HSA-4085001)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10.1038/emboj.2013.79;10191093;10206952;10330343;10334995;10405317;10431835;10504389;10536037;10581036;10742600;10749855;10861246;10947946;11062056;11237011;11279095;11528398;11602804;11751519;11916006;12177386;12235148;12473780;12603328;12668675;12743242;14962670;15136692;15213228;15501818;15576474;16147865;16237198;16439063;17123352;1756715;17944600;18632803;19768537;19797320;19850283;21081508;22692205;23234360;23406897;23584533;24715725;26992070;29242379;30459171;3136930;32938616;33592498;35051231;35275192;36646912;7252518;7559389;8333853;8591035;8611500;8631981;8920913;8985184;9010752;9199191;9822625;9826427", "class_list": "glycogene;glycosyltransferase", "function": "Identification and expression and localization in brain, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Role of ST6GAL1 and ST6GAL2 in subversion of cellular signaling during enteroaggregative Escherichia coli infection of human intestinal epithelial cell lines., [RefSeq, PubMed]; This locus encodes a sialyltransferase. The encoded type II transmembrane protein catalyzes the transfer of sialic acid from CMP to an oligosaccharide substrate. Polymorphisms at this locus may be associated with variations in risperidone response in schizophrenic patients. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]., [RefSeq]; This suggests that ST6GAL2 transcription could be potentially activated for specific neuronal functions., [RefSeq, PubMed]; Transfers sialic acid from the donor of substrate CMP-sialic acid to galactose containing acceptor substrates. Has alpha-2,6-sialyltransferase activity toward oligosaccharides that have the Gal-beta-1,4-GlcNAc sequence at the non-reducing end of their carbohydrate groups, but it has weak or no activities toward glycoproteins and glycolipids., [UniProtKB, PubMed]", "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": 1, "mined_o_glycosites": 1, "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": 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": 1, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 889, "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": "D3DVK3;Q53QP4;Q86Y44;Q8IUG7;Q96HE4", "ec_number_list": "2.4.3.1", "go_molecular_function": "GO:0003835 beta-galactoside alpha-2,6-sialyltransferase activity;GO:0008373 sialyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0009101 glycoprotein biosynthetic process;GO:0009311 oligosaccharide metabolic process;GO:0097503 sialylation", "synthesized_glycan_count": 1722, "hit_score": 7.9, "record_id": "Q96JF0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BWJ5-1", "uniprot_id": "SF3B5_HUMAN", "mass": 10135.0, "length": 86, "protein_name": "Splicing factor 3B subunit 5", "gene_name": "SF3B5", "organism": "Human", "refseq_name": "splicing factor 3B subunit 5", "refseq_ac": "NP_112577", "gene_names_uniprotkb": "SF3B5; SF3B10", "gene_names_refseq": "SF3B5; SF3b10; Ysf3", "protein_names_uniprotkb": "Splicing factor 3B subunit 5; Pre-mRNA-splicing factor SF3b 10 kDa subunit; SF3b5", "protein_names_refseq": "pre-mRNA-splicing factor SF3b 10 kDa subunit; splicing factor 3B subunit 5; splicing factor 3b, subunit 5, 10kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:83443); (R-HSA-72163); (R-HSA-72165); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9943411)", "pathway_count": 6, "publication_count": 215, "publication_id_list": "10199952;10207048;10669729;10882114;11014198;11060040;11101529;11233976;11333026;11607023;11747608;11991638;12176931;12234937;12411573;12414731;12477934;12682017;12738865;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15146077;15565158;15647753;16263726;16314458;16372014;16809785;17095540;17128255;17332742;17433364;17525332;17606899;17717186;17940139;18042460;18288197;18322460;18593880;19052544;19103666;19165350;19217410;19536130;19608861;20211137;20423332;20695905;20980672;21295486;21536652;2176635;21911577;22046413;22110043;22365833;22569126;22813749;22869377;22922743;22959432;22961380;23222130;23236153;23345524;23783831;23874216;24076191;24149845;24196718;24304693;24448447;24714562;24737827;24914973;2524422;25301780;25301781;25418920;25555158;25576301;2558966;25645385;25802875;25880248;25892735;26092250;26154972;26385511;26420826;26728094;26969736;26992070;27108190;27377154;27459055;27510544;27661449;27683217;27720643;27920218;28062851;28063628;28076346;28096519;28218747;28228285;28502770;28510447;28541300;28781166;28832583;28834231;28911096;29186539;29242379;29274231;29301961;29331515;29360106;29361316;29371260;29393594;29437277;29493099;29508533;29557506;29632046;2963332;29769354;29786170;29789417;29902443;30139799;30192525;30257008;30315122;30315277;30410026;30429286;30484775;30524438;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31217245;31409651;31530632;31611695;31844290;31848261;31998317;32157095;32179686;32265295;32329775;32357974;32488085;32494006;32502341;32816001;32897882;32938616;32983136;33123756;33141586;33177556;33243851;33392160;33446560;33509932;33537174;33592498;33717175;33912179;34171305;34185709;34301950;34357683;34822310;34932366;35051231;35177536;35215846;35318648;35385551;35561310;35580925;36010968;36284347;36797247;3757028;37938771;8566756;8608946;8835860;9016565;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:27720643, PubMed:28781166, PubMed:32494006, PubMed:34822310). The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing (PubMed:12234937, PubMed:32494006, PubMed:34822310). Within the 17S U2 SnRNP complex, SF3B4 is part of the SF3B subcomplex, which is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA (PubMed:12234937, PubMed:27720643). Sequence independent binding of SF3A and SF3B subcomplexes upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). Also acts as a component of the minor spliceosome, which is involved in the splicing of U12-type introns in pre-mRNAs (PubMed:15146077, PubMed:33509932)., [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": 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": "B2R568;Q7RTV1", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:1990935 splicing factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005686 U2 snRNP;GO:0071011 precatalytic spliceosome;GO:0005689 U12-type spliceosomal complex", "go_biological_process": "GO:0045893 positive regulation of DNA-templated transcription;GO:0043484 regulation of RNA splicing;GO:0000387 spliceosomal snRNP assembly;GO:0000398 mRNA splicing, via spliceosome;GO:0006282 regulation of DNA repair", "synthesized_glycan_count": 0, "hit_score": 21.8, "record_id": "Q9BWJ5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H2G2-1", "uniprot_id": "SLK_HUMAN", "mass": 142695.0, "length": 1235, "protein_name": "STE20-like serine/threonine-protein kinase", "gene_name": "SLK", "organism": "Human", "refseq_name": "STE20-like serine/threonine-protein kinase isoform 2", "refseq_ac": "NP_001291672", "gene_names_uniprotkb": "SLK; KIAA0204; STK2", "gene_names_refseq": "LOSK; SLK; STK2; bA16H23.1; se20-9", "protein_names_uniprotkb": "STE20-like serine/threonine-protein kinase; 2.7.11.1; CTCL tumor antigen se20-9; STE20-like kinase; STE20-related kinase; STE20-related serine/threonine-protein kinase; Serine/threonine-protein kinase 2; hSLK", "protein_names_refseq": "CTCL tumor antigen se20-9; Long Ste20-like Kinase; SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase; SNF1 sucrose nonfermenting like kinase; STE20-like serine/threonine-protein kinase isoform 2; STE20-like serine/threonine-protein kinase; STE20-related kinase; STE20-related serine/threonine-protein kinase; Ste20-related serine/threonine kinase; hSLK; serine/threonine-protein kinase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9748); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106)", "pathway_count": 4, "publication_count": 241, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10699464;10873388;11058585;11085924;11149944;11207612;11237011;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12473120;12531887;12650940;12857875;12877655;14512443;15023524;15064355;15107133;15302923;15342493;15485661;15601624;15611138;15850391;15866170;15944396;16112081;16116428;16184169;16217026;16408927;16467373;16519628;16630611;16776779;16777452;16777849;16837460;16862148;16896804;16914516;16917499;17077126;17081983;17198702;17287340;17322306;17344846;17525332;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18452278;18669648;18691976;18767875;18802007;18829452;19369195;19494238;19605563;19635168;19651622;19664994;19673492;19690332;19713215;20030946;20058876;20068231;20101212;20166139;20400958;20591975;20628200;20660154;21148482;21351730;21373644;21406692;21454492;21565175;21576392;21699497;21757538;21865595;21936715;22096251;22298643;22305756;22673745;22790947;22911862;22992742;23186163;23200924;23255595;23434736;23481700;23572525;23870313;24086303;24128008;24259668;24275569;24335996;24352656;24933155;25211221;25425145;25576301;25673874;25704760;26094769;26371245;26529257;26853435;26887924;26992070;27145964;27216196;27481945;27920218;27986909;28112683;28196833;28584191;28832583;28834231;28904123;28940097;29146911;29242379;29288388;29493099;29534578;29557506;30315122;30429286;30833945;31105010;31154438;31217245;31530632;31844290;31848261;31871319;31913659;32119511;32157095;32161166;32203420;32265295;32350084;32387766;32488085;32502341;32513743;32938616;32983136;33298915;33592498;33968037;34087483;34229054;34357683;35008409;35051231;35251023;35494241;35580925;36215666;36241641;36284347;37217939;38253038;38665916;40307207;7479768;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9305890;9418861;9490638;9497316;9535835;9548756;9659915;9670022;9792683;9822605;9829970", "class_list": "", "function": "Mediates apoptosis and actin stress fiber dissolution., [UniProtKB]; SLK interacts with Tpr and alpha-actinin-4 in cells, and these protein-protein interactions may control the subcellular localization and the biological activity of SLK., [RefSeq, PubMed]; SLK-mediated actin cytoskeletal reorganization may facilitate force transmission between the contractile units and the extracellular matrix., [RefSeq, PubMed]; The inhibition of SLK by RNA interference significantly suppressed the invasion ability of glioma, and on protein level, knock- down of SLK leaded to an up-regulation of E-cadherin and a down-regulation of Vimentin in glioma 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": 58, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 21, "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": "D3DRA0;D3DRA1;O00211;Q6P1Z4;Q86WU7;Q86WW1;Q92603;Q9NQL0;Q9NQL1", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;3.6.5.2;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;3.1.2.-;7.6.2.-;1.14.14.18;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;3.6.4.-;2.3.2.27;2.7.11.12;3.1.4.4;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031252 cell leading edge;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0051893 regulation of focal adhesion assembly;GO:0035556 intracellular signal transduction;GO:0006915 apoptotic process;GO:0046777 protein autophosphorylation;GO:0030334 regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 24.5, "record_id": "Q9H2G2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HCN8-1", "uniprot_id": "SDF2L_HUMAN", "mass": 23598.0, "length": 221, "protein_name": "Stromal cell-derived factor 2-like protein 1", "gene_name": "SDF2L1", "organism": "Human", "refseq_name": "stromal cell-derived factor 2-like protein 1 precursor", "refseq_ac": "NP_071327", "gene_names_uniprotkb": "SDF2L1; PRO4424", "gene_names_refseq": "SDF2L1", "protein_names_uniprotkb": "Stromal cell-derived factor 2-like protein 1; PWP1-interacting protein 8; SDF2-like protein 1", "protein_names_refseq": "PWP1-interacting protein 8; SDF2-like 1; SDF2-like protein 1; dihydropyrimidinase-like 2; stromal cell-derived factor 2-like protein 1 precursor; stromal cell-derived factor 2-like protein 1", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:23753)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;11162531;12475965;12975309;22661428;23186163;23444373;23584533;25502872;25802875;25813380;26992070;28597544;28832583;29242379;29557506;30429286;30524438;30814508;31611695;31624144;31848261;32096871;32157095;32161166;32350084;32897882;33043033;33134371;33298915;33912179;33936100;35051231;35132862;35251023;38665916;40596516", "class_list": "", "function": "Expression profiles of PRKG1, SDF2L1 and PPP1R12A are predictive and prognostic factors for therapy response and survival in high-grade serous ovarian cancer., [RefSeq, PubMed]; In diabetic patients, insufficient induction of Sdf2l1 correlates with progression of insulin resistance and steatohepatitis. Therefore, failure to build an ER stress response in the liver may be a causal factor in obesity-related diabetes and nonalcoholic steatohepatitis, for which Sdf2l1 could serve as a therapeutic target and sensitive biomarker. Publication Status: Online-Only, [RefSeq, PubMed]; SDF2L1 Inhibits Cell Proliferation, Migration, and Invasion in Nasopharyngeal Carcinoma. Erratum:[Biomed Res Int. 2022 May 12;2022:9898479. doi: 10.1155/2022/9898479. PMID: 35601144] Publication Status: Online-Only, [RefSeq, PubMed]; SDF2L1 associates with ERdj3 and acts as a component in the BiP chaperone cycle to prevent the aggregation of misfolded proteins., [RefSeq, PubMed]; SDF2L1 increases the time that misfolded proteins have to achieve a correctly folded conformation and thus that SDF2L1 can act as a buffer for substrate availability for ERAD in pancreatic beta-cells., [RefSeq, PubMed]; The ERdj3-SDF2L1 complex suppressed ER protein aggregation, and this suppression did not require substrate transfer to BiP., [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": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "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": "A2RUD3;Q9BRI5", "ec_number_list": "", "go_molecular_function": "GO:0051087 protein-folding chaperone binding;GO:0051117 ATPase binding;GO:0051787 misfolded protein binding", "go_cellular_component": "GO:0034663 endoplasmic reticulum chaperone complex;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0016020 membrane;GO:0101031 protein folding chaperone complex", "go_biological_process": "GO:0042026 protein refolding", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9HCN8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NWM0-1", "uniprot_id": "SMOX_HUMAN", "mass": 61819.0, "length": 555, "protein_name": "Spermine oxidase", "gene_name": "SMOX", "organism": "Human", "refseq_name": "spermine oxidase isoform 6", "refseq_ac": "NP_001257620", "gene_names_uniprotkb": "SMOX; C20orf16; PRO9854; SMO", "gene_names_refseq": "C20orf16; PAO-1; PAO1; PAOH1; PAOH; PAO; SMOX; SMO", "protein_names_uniprotkb": "Spermine oxidase; 1.5.3.16; PAO-1; PAOh1; Polyamine oxidase 1", "protein_names_refseq": "flavin containing amine oxidase; flavin-containing spermine oxidase; polyamine oxidase 1; putative cyclin G1 interacting protein; spermine oxidase isoform 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:54498)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;11454677;12141946;12398765;12727196;12975309;15221502;16959974;18422650;25576301;27041578;28832583;29093526;29138259;29242379;29557506;30379171;30418433;30429286;30779550;30833945;31154438;31222486;31844290;31848261;32157095;32938616;33592498;33968037;33981976;34171305;34465810;34767785;35051231;35580925;36241641;36284347", "class_list": "", "function": "Data suggest that intermolecular disulfide bond links spermine oxidase (SMOX) molecules to form the homodimer and plays a critical role in the stabilization of the overall three-dimensional SMOX structure. Publication Status: Online-Only, [RefSeq, PubMed]; Flavoenzyme which catalyzes the oxidation of spermine to spermidine. Can also use N(1)-acetylspermine and spermidine as substrates, with different affinity depending on the isoform (isozyme) and on the experimental conditions. Plays an important role in the regulation of polyamine intracellular concentration and has the potential to act as a determinant of cellular sensitivity to the antitumor polyamine analogs. May contribute to beta-alanine production via aldehyde dehydrogenase conversion of 3-amino-propanal., [UniProtKB]; Genetic regulation of spermine oxidase activity and cancer risk: a Mendelian randomization study. Publication Status: Online-Only, [RefSeq, PubMed]; Polyamines are ubiquitous polycationic alkylamines which include spermine, spermidine, putrescine, and agmatine. These molecules participate in a broad range of cellular functions which include cell cycle modulation, scavenging reactive oxygen species, and the control of gene expression. These molecules also play important roles in neurotransmission through their regulation of cell-surface receptor activity, involvement in intracellular signalling pathways, and their putative roles as neurotransmitters. This gene encodes an FAD-containing enzyme that catalyzes the oxidation of spermine to spermadine and secondarily produces hydrogen peroxide. Multiple transcript variants encoding different isoenzymes have been identified for this gene, some of which have failed to demonstrate significant oxidase activity on natural polyamine substrates. The characterized isoenzymes have distinctive biochemical characteristics and substrate specificities, suggesting the existence of additional levels of complexity in polyamine catabolism. [provided by RefSeq, Jul 2012]., [RefSeq]; Protective Role of Spermidine in Colitis and Colon Carcinogenesis. Erratum:[Gastroenterology. 2022 Jun;162(7):2138-2143. doi: 10.1053/j.gastro.2022.04.006. PMID: 35461802], [RefSeq, PubMed]; SMOX plays a central role in the formation of bile canalicular lumen in liver cells by activating Akt pathway through acrolein production. Publication Status: Online-Only, [RefSeq, PubMed]; There are at least four isoenzymes of human PAO, each with different biochemical characteristics and roles in polyamine catabolism, [RefSeq, PubMed]; These results indicate a protective role for miR-124 through the inhibition of SMOX-mediated DNA damage in the etiology of H. pylori-associated gastric 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": 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": 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": "A2A2P5;A2A2P6;A8BE87;D3DVZ4;Q5TE26;Q5TE27;Q6UY28;Q8IX00;Q96LC3;Q96LC4;Q96QT3;Q9BW38;Q9H6H1;Q9NP51;Q9NPY1;Q9NPY2", "ec_number_list": "1.5.3.16", "go_molecular_function": "GO:0046592 polyamine oxidase activity;GO:0052901 spermine oxidase activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031965 nuclear membrane", "go_biological_process": "GO:0006805 xenobiotic metabolic process;GO:0006596 polyamine biosynthetic process;GO:0006598 polyamine catabolic process;GO:0046208 spermine catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9NWM0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NXL6-1", "uniprot_id": "SIDT1_HUMAN", "mass": 93839.0, "length": 827, "protein_name": "SID1 transmembrane family member 1", "gene_name": "SIDT1", "organism": "Human", "refseq_name": "SID1 transmembrane family member 1 isoform 1 precursor", "refseq_ac": "NP_001295279", "gene_names_uniprotkb": "SIDT1", "gene_names_refseq": "SID-1; SID1; SIDT1", "protein_names_uniprotkb": "SID1 transmembrane family member 1", "protein_names_refseq": "SID1 transmembrane family member 1 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:54847)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "22174421;22509261;23481700;25502872;25892735;26375851;28467828;28785058;28904123;29437277;29557506;31844290;32350084;32357974;33141586;33298915;33912179;34932366;35051231;35154160;35494241;37932444;38237680;38811802;38925866", "class_list": "", "function": "Characterization of N-glycosylation and its functional role in SIDT1-Mediated RNA uptake., [RefSeq, PubMed]; Characterization of Sid-1 extracellular domain, [RefSeq, PubMed]; Cryo-EM analysis reveals human SID-1 transmembrane family member 1 dynamics underlying lipid hydrolytic activity. Publication Status: Online-Only, [RefSeq, PubMed]; Human SIDT1 mediates dsRNA uptake via its phospholipase activity., [RefSeq, PubMed]; In silico analysis identified SIDT1 and SIDT2 sharing identity and conserved cholesterol binding (CRAC) domains with C. elegans ChUP-1. Further evidence indicate that SIDT1 and SIDT2 not only do not transport RNA, but they are involved in cholesterol transport. Single point mutations in the CRAC domains of both proteins prevent FRET between SIDT1, SIDT2 and dehydroergosterol and alter cholesterol transport. Publication Status: Online-Only, [RefSeq, PubMed]; In vitro binds long double-stranded RNA (dsRNA) (500 and 700 base pairs), but not dsRNA shorter than 300 bp. Not involved in RNA autophagy, a process in which RNA is directly imported into lysosomes in an ATP-dependent manner, and degraded., [UniProtKB, UniProtKB]; SIDT1, facilitates rapid, contact-dependent, bidirectional small RNA transfer between human cells, resulting in target-specific non-cell-autonomous RNAi, [RefSeq, PubMed]; Structure of the human systemic RNAi defective transmembrane protein 1 (hSIDT1) reveals the conformational flexibility of its lipid binding domain. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to SID1 family of transmembrane dsRNA-gated channels. Family members transport dsRNA into cells and are required for systemic RNA interference. [provided by RefSeq, May 2017]., [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": 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": 46, "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": "Q17RR4", "ec_number_list": "", "go_molecular_function": "GO:0015485 cholesterol binding;GO:0003725 double-stranded RNA binding;GO:0051033 RNA transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005764 lysosome", "go_biological_process": "GO:0050658 RNA transport", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9NXL6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P0V8-1", "uniprot_id": "SLAF8_HUMAN", "mass": 31670.0, "length": 285, "protein_name": "SLAM family member 8", "gene_name": "SLAMF8", "organism": "Human", "refseq_name": "SLAM family member 8 isoform 2", "refseq_ac": "NP_001317670", "gene_names_uniprotkb": "SLAMF8; BLAME", "gene_names_refseq": "BLAME; CD353; SBBI42; SLAMF8", "protein_names_uniprotkb": "SLAM family member 8; B-lymphocyte activator macrophage expressed; BCM-like membrane protein", "protein_names_refseq": "B lymphocyte activator macrophage expressed; BCM-like membrane protein; SLAM family member 8 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:56833)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11313408;15340161;20237496;29498772;29557506;29786170;31154438;31848261;32983136;35051231;35259711;35432371;35506438;35580925;37217939;38158136;38787377", "class_list": "", "function": "Knockout of SLAMF8 attenuates collagen-induced rheumatoid arthritis in mice through inhibiting TLR4/NF-kappaB signaling pathway., [RefSeq, PubMed]; May play a role in B-lineage commitment and/or modulation of signaling through the B-cell receptor., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SLAMF8 Participates in Acute Renal Transplant Rejection via TLR4 Pathway on Pro-Inflammatory Macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; SLAMF8 can predict prognosis of pan-cancer and the immunotherapy response effectivity of gastric cancer., [RefSeq, PubMed]; SLAMF8 promotes the proliferation and migration of synovial fibroblasts by regulating the ERK/MMPs signalling pathway., [RefSeq, PubMed]; This gene encodes a member of the CD2 family of cell surface proteins involved in lymphocyte activation. These proteins are characterized by Ig domains. This protein is expressed in lymphoid tissues, and studies of a similar protein in mouse suggest that it may function during B cell lineage commitment. The gene is found in a region of chromosome 1 containing many CD2 genes. [provided by RefSeq, Jul 2008]., [RefSeq]; Thus, SLAMF8 is involved in oncogenic KIT-mediated RAS-RAF- ERK signalling and the subsequent growth of human neoplastic mast cells mediated by SHP-2., [RefSeq, PubMed]; Upregulation of SLAMF8 aggravates ischemia/reperfusion-induced ferroptosis and injury in cardiomyocyte., [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": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q32MC6;Q5VU15", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0045577 regulation of B cell differentiation;GO:0090027 negative regulation of monocyte chemotaxis;GO:0090383 phagosome acidification;GO:0006955 immune response;GO:0042742 defense response to bacterium", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9P0V8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UIB8-1", "uniprot_id": "SLAF5_HUMAN", "mass": 38782.0, "length": 345, "protein_name": "SLAM family member 5", "gene_name": "CD84", "organism": "Human", "refseq_name": "SLAM family member 5 isoform 1 precursor", "refseq_ac": "NP_001171808", "gene_names_uniprotkb": "CD84; SLAMF5", "gene_names_refseq": "CD84; LY9B; SLAMF5; hCD84; mCD84", "protein_names_uniprotkb": "SLAM family member 5; Cell surface antigen MAX.3; Hly9-beta; Leukocyte differentiation antigen CD84; Signaling lymphocytic activation molecule 5", "protein_names_refseq": "CD84 antigen (leukocyte antigen); SLAM family member 5 isoform 1 precursor; SLAM family member 5; cell surface antigen MAX.3; hly9-beta; leucocyte differentiation antigen CD84; leukocyte antigen CD84; leukocyte differentiation antigen CD84; signaling lymphocytic activation molecule 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:8832); (R-HSA-202733)", "pathway_count": 2, "publication_count": 104, "publication_id_list": "10606205;10698700;10746783;10764623;11207550;11256994;11313386;11389028;11414741;11564780;11779189;11812992;12070135;12115647;12208882;12225753;12458214;12469115;12782713;12928397;12962726;14529530;14615387;15000751;15245368;15528364;15681301;15721307;1591491;16037392;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;19279206;21193412;21659548;22068234;23719902;23945545;24043627;24764293;2538457;25502872;26992070;27452731;28467828;28832583;28834231;29242379;29314611;29434592;29557506;29632711;30429286;30514120;30626607;31772329;31844290;31848261;32162841;32350084;32983136;33043033;33465053;33936100;34932366;35051231;35154160;35251023;35580925;39003273;468991;7509040;7521878;8163559;8166770;8314844;9052782;9169774;9242610;9295288;9310491;9382878;9693095;9763524", "class_list": "", "function": "Among 29 immune and inflammatory proteins, CXCL1, CD84 and TNFRSF10A were associated with early post-acute coronary syndrome (ACS) after initial ACS-admission, [RefSeq, PubMed]; Bone marrow dendritic cells support the survival of chronic lymphocytic leukemia cells in a CD84 dependent manner., [RefSeq, PubMed]; CD84 is a regulator of the immunosuppressive microenvironment in multiple myeloma. Erratum:[JCI Insight. 2023 Jul 24;8(14):e173312. doi: 10.1172/jci.insight.173312. PMID: 37485873] Publication Status: Online-Only, [RefSeq, PubMed]; Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Can mediate natural killer (NK) cell cytotoxicity dependent on SH2D1A and SH2D1B (By similarity). Increases proliferative responses of activated T-cells and SH2D1A/SAP does not seem be required for this process. Homophilic interactions enhance interferon gamma/IFNG secretion in lymphocytes and induce platelet stimulation via a SH2D1A-dependent pathway. May serve as a marker for hematopoietic progenitor cells (PubMed:11564780, PubMed:12115647, PubMed:12928397, PubMed:12962726, PubMed:16037392) Required for a prolonged T-cell:B-cell contact, optimal T follicular helper function, and germinal center formation. In germinal centers involved in maintaining B-cell tolerance and in preventing autoimmunity (By similarity). In mast cells negatively regulates high affinity immunoglobulin epsilon receptor signaling; independent of SH2D1A and SH2D1B but implicating FES and PTPN6/SHP-1 (PubMed:22068234). In macrophages enhances LPS-induced MAPK phosphorylation and NF-kappaB activation and modulates LPS-induced cytokine secretion; involving ITSM 2 (By similarity). Positively regulates macroautophagy in primary dendritic cells via stabilization of IRF8; inhibits TRIM21-mediated proteasomal degradation of IRF8 (PubMed:29434592)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Terminal deoxynucleotidyl transferase and CD84 identify human multi-potent lymphoid progenitors. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a membrane glycoprotein that is a member of the signaling lymphocyte activation molecule (SLAM) family. This family forms a subset of the larger CD2 cell-surface receptor Ig superfamily. The encoded protein is a homophilic adhesion molecule that is expressed in numerous immune cells types and is involved in regulating receptor-mediated signaling in those cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]., [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": 5, "reported_mutagensis": 10, "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": "B2R8T1;B7Z3R8;O15430;O95266;O95660;Q5H9R1;Q6FHA8;Q8WLP1;Q8WWI8;Q9UF04;Q9UIB6;Q9UIB7;Q9UIT7", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0032701 negative regulation of interleukin-18 production;GO:0006952 defense response;GO:0006955 immune response;GO:0045087 innate immune response;GO:0042110 T cell activation", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q9UIB8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P16442-1", "uniprot_id": "BGAT_HUMAN", "mass": 40934.0, "length": 354, "protein_name": "Histo-blood group ABO system transferase", "gene_name": "ABO", "organism": "Human", "refseq_name": "histo-blood group ABO system transferase isoform A1.01", "refseq_ac": "NP_065202", "gene_names_uniprotkb": "ABO", "gene_names_refseq": "A3GALNT; A3GALT1; ABO; GTA; GTB; NAGAT", "protein_names_uniprotkb": "Histo-blood group ABO system transferase; 2.4.1.37; 2.4.1.40; A transferase; B transferase; Fucosylglycoprotein 3-alpha-galactosyltransferase; Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase; GTA; GTB; Glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase; Glycoprotein-fucosylgalactoside alpha-galactosyltransferase; Histo-blood group A transferase; Histo-blood group B transferase; NAGAT", "protein_names_refseq": "ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; B(A) alpha-1,3-galactosyltransferase; histo-blood group A2 transferase; histo-blood group ABO system transferase isoform A1.01; transferase B, alpha 1-3-galactosyltransferase)", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); graft-versus-host disease (Disease Ontology:DOID:0081267); hypertension (Disease Ontology:DOID:10763); leukemia (Disease Ontology:DOID:1240); pulmonary sarcoidosis (Disease Ontology:DOID:13406); Plasmodium falciparum malaria (Disease Ontology:DOID:14067); echinococcosis (Disease Ontology:DOID:1496); pancreatic cancer (Disease Ontology:DOID:1793); hepatitis (Disease Ontology:DOID:2237); asthma (Disease Ontology:DOID:2841); severe acute respiratory syndrome (Disease Ontology:DOID:2945); gallbladder carcinoma (Disease Ontology:DOID:4948); pneumonia (Disease Ontology:DOID:552); hemolytic anemia (Disease Ontology:DOID:583); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:28); (R-HSA-9033807)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "10092863;10462501;11237011;12198488;12529355;12829588;12972418;14170898;1449469;15104652;1520322;15475562;16326711;16533287;17259183;17764507;18192272;18513251;2104828;2118655;2121736;2333095;29557506;35051231;6775529;7598760;7876235;7912436;8456556;8631849;8839869;9219535;9226185;9299444;9800297", "class_list": "glycogene;glycosyltransferase", "function": "Catalyzes the transfer of GalNAc or Gal in an alpha1,3 linkage to the terminal Gal of all five types of naturally occurring H antigens, forming the antigenic structures of the A and B blood groups., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Data suggests that weak blood group B phenotypes may be caused by sequence variations in the CBF/NF-Y regulatory region., [RefSeq, PubMed]; This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Apr 2022]., [RefSeq]; This protein is the basis of the ABO blood group system. The histo-blood group ABO involves three carbohydrate antigens: A, B, and H. A, B, and AB individuals express a glycosyltransferase activity that converts the H antigen to the A antigen (by addition of N-acetyl-alpha-D-galactosamine (GalNAc)) or to the B antigen (by addition of galactose (Gal)), whereas O individuals lack such activity and express the H antigen precursor unmodified., [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": 4, "reported_glycation": 0, "reported_snv": 142, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 15, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B0JDB9;O14758;Q14490;Q53I57;Q6ISD4;Q6KFZ2;Q70V27;Q99484;Q99485;Q9NY01;Q9UQ68;Q9UQ69", "ec_number_list": "2.4.1.37;2.4.1.40", "go_molecular_function": "GO:0030145 manganese ion binding;GO:0000166 nucleotide binding;GO:0003823 antigen binding;GO:0004380 glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity;GO:0004381 fucosylgalactoside 3-alpha-galactosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005794 Golgi apparatus;GO:0031982 vesicle;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 1051, "hit_score": 3.6, "record_id": "P16442-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6ND91-1", "uniprot_id": "ASPDH_HUMAN", "mass": 29946.0, "length": 283, "protein_name": "Aspartate dehydrogenase domain-containing protein", "gene_name": "ASPDH", "organism": "Human", "refseq_name": "aspartate dehydrogenase domain-containing protein isoform 2", "refseq_ac": "NP_001019827", "gene_names_uniprotkb": "ASPDH", "gene_names_refseq": "ASPDH", "protein_names_uniprotkb": "Aspartate dehydrogenase domain-containing protein", "protein_names_refseq": "aspartate dehydrogenase domain-containing protein isoform 2; aspartate dehydrogenase domain-containing protein; putative L-aspartate dehydrogenase", "tax_id": 9606, "disease": "", "pathway": " (hsa:554235)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;24275569;29557506;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": 2, "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": "Q6NZ37", "ec_number_list": "", "go_molecular_function": "GO:0033735 aspartate dehydrogenase [NAD(P)+] activity;GO:0050661 NADP binding;GO:0016491 oxidoreductase activity", "go_cellular_component": "", "go_biological_process": "GO:0009435 NAD+ biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A6ND91-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NMY6-1", "uniprot_id": "AXA2L_HUMAN", "mass": 38659.0, "length": 339, "protein_name": "Putative annexin A2-like protein", "gene_name": "ANXA2P2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ANXA2P2; ANX2L2; ANX2P2; LPC2B", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative annexin A2-like protein; Annexin A2 pseudogene 2; Lipocortin II pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "hypothyroidism (Disease Ontology:DOID:1459); renal cell carcinoma (Disease Ontology:DOID:4450); hyperthyroidism (Disease Ontology:DOID:7998)", "pathway": "", "pathway_count": 0, "publication_count": 53, "publication_id_list": "2174397;22299025;23576270;24126823;24366607;24715725;26853435;27452731;27543614;27600516;27726376;27846572;27920218;28063628;28218747;28228285;28446606;28467828;28832583;28834231;28855257;29242379;29314611;29317506;29331515;29393594;29508533;29557506;29632046;29632711;29774024;29786170;29789417;30192525;30315122;30397120;30410026;30524438;30573663;30779550;30833945;31611695;31844290;32350084;32357974;32387766;32488085;33981976;34357683;35051231;36215666;36284347;37217939", "class_list": "", "function": "Calcium-regulated membrane-binding protein whose affinity for calcium is greatly enhanced by anionic phospholipids. It binds two calcium ions with high affinity. May be involved in heat-stress response., [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": 2, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding;GO:0008092 cytoskeletal protein binding;GO:0005544 calcium-dependent phospholipid binding;GO:0019834 phospholipase A2 inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0042470 melanosome", "go_biological_process": "GO:0010756 positive regulation of plasminogen activation;GO:0007155 cell adhesion;GO:0031340 positive regulation of vesicle fusion;GO:0051051 negative regulation of transport;GO:0051240 positive regulation of multicellular organismal process", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "A6NMY6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P53004-1", "uniprot_id": "BIEA_HUMAN", "mass": 33428.0, "length": 296, "protein_name": "Biliverdin reductase A", "gene_name": "BLVRA", "organism": "Human", "refseq_name": "biliverdin reductase A", "refseq_ac": "NP_000703", "gene_names_uniprotkb": "BLVRA; BLVR; BVR", "gene_names_refseq": "BLVRA; BLVR; BVRA; BVRalpha; BVR", "protein_names_uniprotkb": "Biliverdin reductase A; 1.3.1.24; BVR A; Biliverdin-IX alpha-reductase", "protein_names_refseq": "BVR A; biliverdin reductase A; biliverdin reductase IXalpha; biliverdin-IX alpha-reductase; testis tissue sperm-binding protein Li 61n", "tax_id": 9606, "disease": "hyperbiliverdinemia (MONDO:MONDO:0013595)", "pathway": " (hsa:644); (R-HSA-189483); (R-HSA-9707564)", "pathway_count": 3, "publication_count": 85, "publication_id_list": "10421658;10620517;10644574;10858451;11023036;11134001;11237011;11397817;1157293;12969439;15001581;15245331;15870194;16568091;17264172;18669648;19413330;19580635;19608861;19690164;19690332;19968714;20068231;20929863;22232210;22427940;22584576;22823425;23301498;25576301;26375851;26768311;26992070;27600516;28228285;28467828;28510447;28698372;28832583;28834231;29242379;29317506;29393594;29557506;29632046;30315122;30429286;30573663;31844290;32157095;32350084;32357974;32387766;32938616;32983136;33043033;33260451;33592498;33717175;33912179;33968037;34087483;34229054;3427020;34357683;34453944;34509645;34725712;3475708;35051231;35580925;36010968;36241641;38216836;38279097;38665916;39468242;39894887;4980931;6094553;7372607;7929092;8424666;8631357;8950184", "class_list": "", "function": "Associations between UGT1A1, SLCO1B1, SLCO1B3, BLVRA and HMOX1 polymorphisms and susceptibility to neonatal severe hyperbilirubinemia in Chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; BLVRA exerts its biological effects to induce malignant properties of hepatocellular carcinoma cells via Wnt/beta-catenin pathway., [RefSeq, PubMed]; Biliverdin reductase-A protein levels are reduced in type 2 diabetes and are associated with poor glycometabolic control., [RefSeq, PubMed]; Reduced Biliverdin Reductase-A Expression in Visceral Adipose Tissue is Associated with Adipocyte Dysfunction and NAFLD in Human Obesity. Publication Status: Online-Only, [RefSeq, PubMed]; Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IXalpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor (PubMed:10858451, PubMed:7929092, PubMed:8424666, PubMed:8631357). Does not reduce bilirubin IXbeta (PubMed:10858451). Uses the reactants NADH or NADPH depending on the pH; NADH is used at the acidic pH range (6-6.9) and NADPH at the alkaline range (8.5-8.7) (PubMed:7929092, PubMed:8424666, PubMed:8631357). NADPH, however, is the probable reactant in biological systems (PubMed:7929092)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]; UGT1A1 and BLVRA allele and genotype variants in neonatal patients with hyperbilirubinemia in southern China. 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": 8, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K747;O95019;Q86UX0;Q96QL4;Q9BRW8", "ec_number_list": "1.3.1.-;2.6.99.-;1.5.1.30;1.3.1.24", "go_molecular_function": "GO:0106276 biliberdin reductase (NADH) activity;GO:0106277 biliverdin reductase (NADPH) activity;GO:0004674 protein serine/threonine kinase activity;GO:0008270 zinc ion binding;GO:0000166 nucleotide binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0009986 cell surface;GO:0070062 extracellular exosome", "go_biological_process": "GO:0042167 heme catabolic process", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "P53004-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75964-1", "uniprot_id": "ATP5L_HUMAN", "mass": 11428.0, "length": 103, "protein_name": "ATP synthase F(0) complex subunit g, mitochondrial", "gene_name": "ATP5MG", "organism": "Human", "refseq_name": "ATP synthase F(0) complex subunit g, mitochondrial", "refseq_ac": "NP_006467", "gene_names_uniprotkb": "ATP5MG; ATP5L", "gene_names_refseq": "ATP5JG; ATP5L; ATP5MG", "protein_names_uniprotkb": "ATP synthase F(0) complex subunit g, mitochondrial; ATP synthase membrane subunit g; ATPase subunit g", "protein_names_refseq": "ATP synthase F(0) complex subunit g, mitochondrial; ATP synthase g chain, mitochondrial; ATP synthase subunit g, mitochondrial; ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G; ATP synthase, H+ transporting, mitochondrial F1F0, subunit g; ATP synthase, H+ transporting, mitochondrial Fo complex subunit G; ATPase subunit G; F1F0-type ATP synthase subunit g; F1Fo-ATP synthase complex Fo membrane domain g subunit", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:10632); (R-HSA-163210); (R-HSA-8949613); (R-HSA-9837999)", "pathway_count": 4, "publication_count": 126, "publication_id_list": "11230166;11237011;11923310;12198491;14623864;15522782;15870080;16115876;17101804;17121862;17297443;17510655;17579211;17624330;18323778;19608861;19841671;20833715;21654843;21836051;22114354;22252321;22262461;22710082;22864911;23201127;23481700;23739916;23783831;23931759;24098383;24315374;24520911;24687277;24714562;25285856;25505266;25576301;25764979;25781180;25880248;25997101;26154972;26416881;26477565;26504172;26530328;26728094;26923599;26968360;26992070;27452731;27479602;27485409;27496948;27561077;27600516;27623147;27642048;28189850;28218747;28228285;28377575;28396416;28467828;28514659;28832583;28834231;28904123;29242379;29301859;29437277;29557506;29632046;29932645;30120231;30315122;30410026;30429286;30484775;30833945;31154438;31217245;31327635;31530632;31611695;31695197;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33257573;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34171305;34357683;34509645;34561969;34704252;34932366;34943861;35051231;35318648;35561310;35580925;35870450;36010968;36241641;36284347;36629048;37244256;37938771;4517936;7623837", "class_list": "", "function": "Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]., [RefSeq]; Overexpression of miR-570-3p in platelets resulted in reduced levels of ATP5L mRNA and concomitant ATP loss., [RefSeq, PubMed]; Subunit g, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (PubMed:37244256). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk (PubMed:37244256). During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation (Probable). In vivo, can only synthesize ATP although its ATP hydrolase activity can be activated artificially in vitro (By similarity). Part of the complex F(0) domain (PubMed:37244256)., [UniProtKB, PubMed, UniProtKB]; This study demonstrates that F1Fo ATP synthase can support general mitochondrial and cellular functions, working in extremely efficient 'energy saving' reverse mode and flexibly recruiting free radical detoxication and ATP producing / transporting pathways., [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": 1, "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": "A8K0K3;Q96BV6;Q9UBZ7", "ec_number_list": "", "go_molecular_function": "GO:0015078 proton transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045259 proton-transporting ATP synthase complex;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0015986 proton motive force-driven ATP synthesis;GO:0042776 proton motive force-driven mitochondrial ATP synthesis", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "O75964-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14525-1", "uniprot_id": "ASTN1_HUMAN", "mass": 144913.0, "length": 1302, "protein_name": "Astrotactin-1", "gene_name": "ASTN1", "organism": "Human", "refseq_name": "astrotactin-1 isoform 2 precursor", "refseq_ac": "NP_996991", "gene_names_uniprotkb": "ASTN1; ASTN; KIAA0289", "gene_names_refseq": "ASTN1; ASTN", "protein_names_uniprotkb": "Astrotactin-1", "protein_names_refseq": "astrotactin-1 isoform 2 precursor", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:460)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;18384059;18519826;19086053;22488871;23481700;27862975;29557506;31844290;32387766;32945491;33592498;35051231;9179496", "class_list": "", "function": "ASTN1 is associated with immune infiltrates in hepatocellular carcinoma, and inhibits the migratory and invasive capacity of liver cancer via the Wnt/betacatenin signaling pathway., [RefSeq, PubMed]; Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb (Fink et al., 1995).[supplied by OMIM, Jun 2009]., [RefSeq]; Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Family-based association analysis shows the ASTN1 gene significantly associated with alcohol dependence., [RefSeq, PubMed]; Neuronal adhesion molecule that is required for normal migration of young postmitotic neuroblasts along glial fibers, especially in the cerebellum. Required for normal rate of migration of granule cells during brain development and for normal cerebellum development., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 50, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A5PL12;B4DHI9;E9PFR8;O60799;Q5W0V7;Q5W0V8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005768 endosome;GO:0016020 membrane;GO:0043204 perikaryon;GO:0009897 external side of plasma membrane;GO:0030136 clathrin-coated vesicle", "go_biological_process": "GO:0001764 neuron migration;GO:0007158 neuron cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "O14525-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60756-1", "uniprot_id": "BCE1_HUMAN", "mass": 9784.0, "length": 84, "protein_name": "Putative protein BCE-1", "gene_name": "BCE1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "BCE1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein BCE-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": "O60756-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75110-1", "uniprot_id": "ATP9A_HUMAN", "mass": 118583.0, "length": 1047, "protein_name": "Probable phospholipid-transporting ATPase IIA", "gene_name": "ATP9A", "organism": "Human", "refseq_name": "probable phospholipid-transporting ATPase IIA", "refseq_ac": "NP_006036", "gene_names_uniprotkb": "ATP9A; ATPIIA; KIAA0611", "gene_names_refseq": "ATP9A; ATPIIA; NEDGBA", "protein_names_uniprotkb": "Probable phospholipid-transporting ATPase IIA; 7.6.2.1; ATPase class II type 9A", "protein_names_refseq": "ATPase phospholipid transporting 9A (putative); ATPase type IV, phospholipid-transporting (P-type),(putative); ATPase, class II, type 9A; phospholipid-transporting ATPase IIA; probable phospholipid-transporting ATPase IIA", "tax_id": 9606, "disease": "neurodevelopmental disorder with poor growth and behavioral abnormalities (Disease Ontology:DOID:0081444)", "pathway": " (hsa:10079); (R-HSA-936837)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "10401004;10484781;10615129;10767338;11237011;15831496;15919184;15925480;16182249;1656976;16700898;18519826;18723824;19345671;19878721;2160952;21914794;22186024;23196729;24366607;24392018;25502872;25505266;25576301;26992070;27067231;27733620;27846572;28467828;29493099;29557506;30213940;30779550;30947313;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32897882;32938616;32983136;33537174;33592498;33912179;33968037;33981976;34087483;34171305;34185709;34379057;34764295;35051231;35318648;35580925;36010968;36215666;36241641;36604604;36715683;38049814;6832622;7626145;8045293;8298639;8490646;8490659;9147644;9307043", "class_list": "", "function": "Circular RNA circATP9A promotes non-small cell lung cancer progression by interacting with HuR and by promoting extracellular vesicles-mediated macrophage M2 polarization. Erratum:[J Exp Clin Cancer Res. 2023 Dec 19;42(1):345. doi: 10.1186/s13046-023-02924-6. PMID: 38111017] Publication Status: Online-Only, [RefSeq, PubMed]; Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in regulating membrane trafficking of cargo proteins, namely endosome to plasma membrane recycling, probably acting through RAB5 and RAB11 activation (PubMed:27733620, PubMed:30213940, PubMed:36604604). Also involved in endosome to trans-Golgi network retrograde transport (PubMed:27733620, PubMed:30213940). In complex with MON2 and DOP1B, regulates SNX3 retromer-mediated endosomal sorting of WLS, a transporter of Wnt morphogens in developing tissues. Participates in the formation of endosomal carriers that direct WLS trafficking back to Golgi, away from lysosomal degradation (PubMed:30213940). Appears to be implicated in intercellular communication by negatively regulating the release of exosomes (PubMed:30947313). The flippase activity towards membrane lipids and its role in membrane asymmetry remains to be proved (PubMed:30947313). Required for the maintenance of neurite morphology and synaptic transmission (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; The phospholipid flippase ATP9A enhances macropinocytosis to promote nutrient starvation tolerance 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": 0, "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": "E1P5Y3;E1P5Y4;Q5TFW5;Q5TFW6;Q5TFW9;Q6ZMF3;Q9NQK6;Q9NQK7", "ec_number_list": "7.6.2.1", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0002020 protease binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0140326 ATPase-coupled intramembrane lipid transporter activity", "go_cellular_component": "GO:0005768 endosome;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0048812 neuron projection morphogenesis;GO:0045332 phospholipid translocation;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0006895 Golgi to endosome transport", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "O75110-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94823-1", "uniprot_id": "AT10B_HUMAN", "mass": 165391.0, "length": 1461, "protein_name": "Phospholipid-transporting ATPase VB", "gene_name": "ATP10B", "organism": "Human", "refseq_name": "phospholipid-transporting ATPase VB isoform 1", "refseq_ac": "NP_079429", "gene_names_uniprotkb": "ATP10B; ATPVB; KIAA0715", "gene_names_refseq": "ATP10B; ATPVB", "protein_names_uniprotkb": "Phospholipid-transporting ATPase VB; 7.6.2.1; ATPase class V type 10B; P4-ATPase flippase complex alpha subunit ATP10B", "protein_names_refseq": "ATPase, class V, type 10B; P4-ATPase flippase complex alpha subunit ATP10B; phospholipid-transporting ATPase VB isoform 1; probable phospholipid-transporting ATPase VB", "tax_id": 9606, "disease": "progressive familial intrahepatic cholestasis (Disease Ontology:DOID:0070221)", "pathway": " (hsa:23120); (R-HSA-936837)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10401004;10484781;10615129;10767338;11237011;15831496;15919184;15925480;16182249;1656976;16700898;18723824;19345671;19878721;2160952;22186024;23196729;24392018;24715725;25645385;25947375;27067231;29557506;29789417;30524438;31154438;31844290;32172343;32892229;32938616;33912179;33968037;33981976;34091411;34105348;34932366;35051231;35580925;36010968;38086447;38754220;6832622;7626145;8045293;8298639;8490646;8490659;9147644;9307043", "class_list": "", "function": "Catalytic component of a P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of glucosylceramide (GlcCer) from the outer to the inner leaflet of lysosome membranes. Plays an important role in the maintenance of lysosome membrane integrity and function in cortical neurons., [UniProtKB, PubMed]; Genetic analysis of ATP10B for Parkinson's disease in Japan., [RefSeq, PubMed]; Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export., [RefSeq, PubMed]; Role of ATP10B in Parkinson disease in a cohort from southern Spain., [RefSeq, PubMed]; The lipid flippase ATP10B enables cellular lipid uptake under stress conditions. 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": 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": 2, "reported_glycation": 0, "reported_snv": 47, "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": "Q9H725", "ec_number_list": "7.6.2.1", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0140326 ATPase-coupled intramembrane lipid transporter activity;GO:0140345 phosphatidylcholine flippase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005765 lysosomal membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0045332 phospholipid translocation;GO:0097212 lysosomal membrane organization;GO:0015914 phospholipid transport", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "O94823-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P05023-1", "uniprot_id": "AT1A1_HUMAN", "mass": 112896.0, "length": 1023, "protein_name": "Sodium/potassium-transporting ATPase subunit alpha-1", "gene_name": "ATP1A1", "organism": "Human", "refseq_name": "sodium/potassium-transporting ATPase subunit alpha-1 isoform a", "refseq_ac": "NP_000692", "gene_names_uniprotkb": "ATP1A1", "gene_names_refseq": "ATP1A1; CMT2DD; HOMGSMR2", "protein_names_uniprotkb": "Sodium/potassium-transporting ATPase subunit alpha-1; 7.2.2.13; Na(+)/K(+) ATPase alpha-1 subunit; Sodium pump subunit alpha-1", "protein_names_refseq": "ATPase, Na+/K+ transporting, alpha 1 polypeptide; Na(+)/K(+) ATPase alpha-1 subunit; Na+/K+ ATPase 1; Na, K-ATPase, alpha-A catalytic polypeptide; Na,K-ATPase alpha-1 subunit; Na,K-ATPase catalytic subunit alpha-A protein; sodium pump subunit alpha-1; sodium-potassium ATPase catalytic subunit alpha-1; sodium-potassium-ATPase, alpha 1 polypeptide; sodium/potassium-transporting ATPase subunit alpha-1 isoform a; sodium/potassium-transporting ATPase subunit alpha-1", "tax_id": 9606, "disease": "familial hemiplegic migraine (Disease Ontology:DOID:0060178); Charcot-Marie-Tooth disease type 2DD (Disease Ontology:DOID:0111558); sensorineural hearing loss (Disease Ontology:DOID:10003); hypertension (Disease Ontology:DOID:10763); alcohol use disorder (Disease Ontology:DOID:1574); epilepsy (Disease Ontology:DOID:1826); nervous system disease (Disease Ontology:DOID:863); hyperhomocysteinemia (Disease Ontology:DOID:9279); hypomagnesemia, seizures, and intellectual disability 2 (MONDO:MONDO:0020788)", "pathway": " (hsa:476); (R-HSA-5578775); (R-HSA-936837); (R-HSA-9679191)", "pathway_count": 4, "publication_count": 240, "publication_id_list": "10.1101/2023.09.13.557529;10087012;10220561;10401004;10473631;10484781;10615129;10767338;10913253;11062458;11237011;11466336;11904675;12021132;12119109;12671055;12832055;12953268;1380674;14759258;14976217;15174025;15260953;15598648;15621037;15754088;15831496;15919184;15925480;16115318;16182249;16522641;1656976;16700898;16754674;1693919;17016520;17081065;17224452;17357072;17389395;17486119;17662961;18083107;18292551;18510355;18621045;18707149;18723824;18991276;18995841;19278978;19345671;19413330;19531498;19690332;1970326;19751721;19878721;20068231;20223979;20388710;20934997;21108950;21454534;2160952;22084111;22186024;22210847;2226863;22299025;22401777;22427649;22552008;22645359;22707725;22814904;22972900;23186163;23196729;23362265;23481700;23549614;23610579;23641311;23646949;24272870;2430951;24366607;24392018;24584101;24715725;2477373;25418920;25502872;25576301;2559024;25645385;25801024;25880248;25892735;25994790;26002965;26154972;26375851;26758079;26768311;26811146;26853435;26992070;27067231;27090790;27452731;27600516;27846572;27862975;27920218;28218747;28228285;2838329;28425720;28446606;28467828;28514659;28645727;28649982;28832583;28855257;28871256;28904123;2891135;29242379;29314611;29331515;29351928;29393594;29437277;29493099;29499166;29508533;2953725;29557506;29632046;29632711;29769354;29774024;29786170;29945920;30201761;30315122;3035563;3036582;30388404;30397120;30410026;30429286;30524438;30573663;30626607;30779550;31048504;31092671;31217245;31530632;31844290;31848261;32119511;32157095;32161166;32162841;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33214551;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34185709;34357683;34433824;34509645;34561969;34725712;34932366;35051231;35083852;35154160;35251023;35318648;35561310;35580925;35803952;36010968;36215666;36241641;36284347;37217939;37407874;37566922;37659504;37830582;37904054;37938771;38665916;40596516;41018975;6328127;6832622;7536695;7626145;7702581;7711835;7775468;7929371;8045293;8119729;8298639;8490646;8490659;8798450;8918259;9147644;9307043;9346285", "class_list": "", "function": "ATP1A1-linked diseases require a malfunctioning protein product from one allele., [RefSeq, PubMed]; ATP1A1/BCL2L1 predicts the response of myelomonocytic and monocytic acute myeloid leukemia to cardiac glycosides., [RefSeq, PubMed]; Catalytic subunit of the Na(+)/K(+)-ATPase pump that hydrolyzes ATP to exchange ions across the plasma membrane, exporting 3 Na(+) and importing 2 K(+) per cycle against electrochemical gradients (PubMed:29499166, PubMed:30388404, PubMed:35803952). It undergoes ATP-driven conformational changes that allow alternating binding and release of Na(+) and K(+) ions across the membrane (PubMed:35803952). This process maintains essential Na(+) and K(+) gradients for membrane potential and cellular function. Could also be part of an osmosensory signaling pathway that senses body-fluid sodium levels and controls salt intake behavior as well as voluntary water intake to regulate sodium homeostasis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Functional Analysis and Clinical Importance of ATP1A1 in Colon Cancer., [RefSeq, PubMed]; Normalization of the ATP1A1 Signalosome Rescinds Epigenetic Modifications and Induces Cell Autophagy in Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Silencing of ATP1A1 attenuates cell membrane disruption by nanosecond electric pulses., [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 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": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 9, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RBR6;B7Z2T5;B7Z3U6;F5H3A1;Q16689;Q6LDM4;Q9UCN1;Q9UJ20;Q9UJ21", "ec_number_list": "7.2.2.13;7.2.2.19", "go_molecular_function": "GO:0005524 ATP binding;GO:0051087 protein-folding chaperone binding;GO:0016887 ATP hydrolysis activity;GO:0044325 transmembrane transporter binding;GO:0030955 potassium ion binding", "go_cellular_component": "GO:0060342 photoreceptor inner segment membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0014069 postsynaptic density", "go_biological_process": "GO:0007231 osmosensory signaling pathway;GO:0086013 membrane repolarization during cardiac muscle cell action potential;GO:0002028 regulation of sodium ion transport;GO:0006883 intracellular sodium ion homeostasis;GO:0035725 sodium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 24.5, "record_id": "P05023-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C7T5-1", "uniprot_id": "ATX1L_HUMAN", "mass": 73306.0, "length": 689, "protein_name": "Ataxin-1-like", "gene_name": "ATXN1L", "organism": "Human", "refseq_name": "ataxin-1-like", "refseq_ac": "NP_001131147", "gene_names_uniprotkb": "ATXN1L; BOAT1; BOAT", "gene_names_refseq": "ATXN1L; BOAT1; BOAT", "protein_names_uniprotkb": "Ataxin-1-like; Brother of ATXN1; Brother of ataxin-1", "protein_names_refseq": "ataxin-1-like; brother of ATXN1; brother of ataxin-1", "tax_id": 9606, "disease": "autosomal dominant cerebellar ataxia (Disease Ontology:DOID:1441)", "pathway": " (hsa:342371)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "16121196;20068231;21475249;23186163;24275569;25892735;28178529;28657654;29237092;29393594;29557506;29769354;29786170;30059200;30093628;30397120;30620550;31154438;31492838;32265295;32574038;32938750;33115448;33214551;33968037;34019948;34846842;35051231;35132862;35138101;35251023;35254053;35289036;35513511;35580925;37217939;37541260;38665916;39302247;39531497;39534244;40136647;40307207", "class_list": "", "function": "Boat is an in vivo binding partner of ataxin-1 whose altered expression in Purkinje cells may contribute to their degeneration in causes spinocerebellar ataxia type 1 animals, [RefSeq, PubMed]; Both ATXN1 and BOAT1 bind to the promoter region of Hey1 and inhibit the transcriptional output of Notch through direct interactions with CBF1, a transcription factor that is crucial for the Notch pathway., [RefSeq, PubMed]; Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression (PubMed:21475249). Can suppress ATXN1 cytotoxicity in spinocerebellar ataxia type 1 (SCA1). In concert with CIC and ATXN1, involved in brain development (By similarity)., [UniProtKB, UniProtKB, PubMed]; TRIM25 promotes Capicua degradation independently of ERK in the absence of ATXN1L. Publication Status: Online-Only, [RefSeq, PubMed]; The ATXN1L-CIC-ETS transcription factor axis as a mediator of resistance to MAPKi., [RefSeq, PubMed]; This study highlights the CIC-ATXN1-ATXN1L axis as a more potent regulator of the cell cycle than previously appreciated, [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": 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0031208 POZ domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0030425 dendrite", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007612 learning;GO:0007613 memory;GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P0C7T5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P24539-1", "uniprot_id": "AT5F1_HUMAN", "mass": 28909.0, "length": 256, "protein_name": "ATP synthase peripheral stalk subunit b, mitochondrial", "gene_name": "ATP5PB", "organism": "Human", "refseq_name": "ATP synthase peripheral stalk subunit b, mitochondrial precursor", "refseq_ac": "NP_001679", "gene_names_uniprotkb": "ATP5PB; ATP5F1", "gene_names_refseq": "ATP5F1; ATP5PB; PIG47", "protein_names_uniprotkb": "ATP synthase peripheral stalk subunit b, mitochondrial; ATP synthase F(0) complex subunit B1, mitochondrial; ATP synthase peripheral stalk-membrane subunit b; ATP synthase proton-transporting mitochondrial F(0) complex subunit B1; ATP synthase subunit b; ATPase subunit b", "protein_names_refseq": "ATP synthase B chain, mitochondrial; ATP synthase F(0) complex subunit B1, mitochondrial; ATP synthase peripheral stalk subunit b, mitochondrial precursor; ATP synthase peripheral stalk subunit b, mitochondrial; ATP synthase proton-transporting mitochondrial F(0) complex subunit B1; ATP synthase subunit b, mitochondrial; ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1; ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b; ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1; ATPase subunit b; H+-ATP synthase subunit b; cell proliferation-inducing protein 47", "tax_id": 9606, "disease": "clear cell renal cell carcinoma (Disease Ontology:DOID:4467); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:515); (R-HSA-163210); (R-HSA-8949613)", "pathway_count": 3, "publication_count": 110, "publication_id_list": "11237011;17121862;17510655;17624330;17975675;1831354;18323778;19608861;20833715;21654843;21836051;22114354;22252321;22864911;23481700;24098383;24366607;24687277;24714562;24715725;25285856;25418920;25576301;25645385;25764979;25781180;25997101;26154972;26375851;26416881;26477565;26530328;26728094;26768311;26929215;26968360;26992070;27090790;27397612;27452731;27479602;27485409;27600516;27623147;27846572;27893789;27920218;28228285;28510447;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30444036;30484775;30779550;31154438;31530632;31611695;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34932366;35051231;35318648;35580925;36010968;36215666;36241641;37244256;37938771;39990658;40914422;4517936", "class_list": "", "function": "Subunit b, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel. These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. In vivo, can only synthesize ATP although its ATP hydrolase activity can be activated artificially in vitro. Part of the complex F(0) domain. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [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": 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": "Q9BQ68;Q9BRU8", "ec_number_list": "", "go_molecular_function": "GO:0015078 proton transmembrane transporter activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0016020 membrane", "go_biological_process": "GO:0021762 substantia nigra development;GO:0015986 proton motive force-driven ATP synthesis;GO:0042776 proton motive force-driven mitochondrial ATP synthesis", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "P24539-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61266-1", "uniprot_id": "STX1B_HUMAN", "mass": 33245.0, "length": 288, "protein_name": "Syntaxin-1B", "gene_name": "STX1B", "organism": "Human", "refseq_name": "syntaxin-1B", "refseq_ac": "NP_443106", "gene_names_uniprotkb": "STX1B; STX1B1; STX1B2", "gene_names_refseq": "GEFSP9; STX1B1; STX1B2; STX1B", "protein_names_uniprotkb": "Syntaxin-1B; Syntaxin-1B1; Syntaxin-1B2", "protein_names_refseq": "syntaxin-1B1; syntaxin-1B2; syntaxin-1B", "tax_id": 9606, "disease": "generalized epilepsy with febrile seizures plus 9 (Disease Ontology:DOID:0111301); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:112755); (R-HSA-5250971); (R-HSA-5682910)", "pathway_count": 3, "publication_count": 25, "publication_id_list": "15217342;16990550;17387609;18510355;18628660;18691641;18974846;20162351;20220021;20461023;21406692;21829378;22360420;25362483;25534083;28411811;29557506;33677401;34764822;35051231;37938771;7901002;8402889;8611567;9886085", "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]; Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B., [RefSeq, PubMed]; Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm (By similarity)., [UniProtKB]; STX1B and the presynaptic release machinery may have a role in fever-associated epilepsy syndromes, [RefSeq, PubMed]; Syntaxin-1 and Insulinoma-Associated Protein 1 Expression in Breast Neoplasms with Neuroendocrine Features. Publication Status: Online-Only, [RefSeq, PubMed]; The STX1B-Delta transmembrane domain is characterized as the first nucleoplasmic syntaxin with no transmembrane domain., [RefSeq, PubMed]; The data of this study suggested that the STX1B polymorphisms are associated with Parkinson disease etiology., [RefSeq, PubMed]; The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [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": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q15531;Q2VPS2", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0019901 protein kinase binding;GO:0000149 SNARE binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0048787 presynaptic active zone membrane;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0006886 intracellular protein transport;GO:2000463 positive regulation of excitatory postsynaptic potential;GO:0010977 negative regulation of neuron projection development;GO:0010468 regulation of gene expression;GO:0007269 neurotransmitter secretion", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P61266-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P20749-1", "uniprot_id": "BCL3_HUMAN", "mass": 47584.0, "length": 454, "protein_name": "B-cell lymphoma 3 protein", "gene_name": "BCL3", "organism": "Human", "refseq_name": "B-cell lymphoma 3 protein", "refseq_ac": "NP_005169", "gene_names_uniprotkb": "BCL3; BCL4; D19S37", "gene_names_refseq": "BCL3; BCL4; D19S37", "protein_names_uniprotkb": "B-cell lymphoma 3 protein; BCL-3; Proto-oncogene BCL3", "protein_names_refseq": "B cell CLL/lymphoma 3; B-cell leukemia/lymphoma 3; B-cell lymphoma 3 protein; B-cell lymphoma 3-encoded protein; BCL-3; chronic lymphatic leukemia protein; proto-oncogene BCL3", "tax_id": 9606, "disease": "", "pathway": " (hsa:602)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "10362352;10469655;11237011;11707390;12730195;15469820;16362076;17322306;1923524;2180580;23186163;23481700;27600516;27846572;27920218;28832583;28855257;29242379;29393594;30429286;31844290;32157095;32488085;32938616;32983136;33123756;33592498;33936100;33968037;35051231;35355979;35580925;35641486;36284347;37132942;37560801;37794349;7896265;8453667", "class_list": "", "function": "BCL3 rearrangements in B-cell lymphoid neoplasms occur in two breakpoint clusters associated with different diseases. Publication Status: Online-Only, [RefSeq, PubMed]; Bcl-3 regulates T cell function through energy metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; Bcl-3: A Double-Edged Sword in Immune Cells and Inflammation. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Characterization of the mouse BCL3 ortholog and comparison to the human gene., [RefSeq, PubMed]; Contributes to the regulation of transcriptional activation of NF-kappa-B target genes. In the cytoplasm, inhibits the nuclear translocation of the NF-kappa-B p50 subunit. In the nucleus, acts as transcriptional activator that promotes transcription of NF-kappa-B target genes. Contributes to the regulation of cell proliferation (By similarity)., [UniProtKB, PubMed]; Hepatocyte Bcl-3 protects from death-receptor mediated apoptosis and subsequent acute liver failure. Publication Status: Online-Only, [RefSeq, PubMed]; Hsa_circ_0088036 promotes nonsmall cell lung cancer progression by regulating miR-1343-3p/Bcl-3 axis through TGFbeta/Smad3/EMT signaling., [RefSeq, PubMed]; This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [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": 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": "", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0030674 protein-macromolecule adaptor activity;GO:0003714 transcription corepressor activity;GO:0042826 histone deacetylase binding;GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0006974 DNA damage response;GO:0009615 response to virus", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "P20749-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H4F1-1", "uniprot_id": "SIA7D_HUMAN", "mass": 34201.0, "length": 302, "protein_name": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase", "gene_name": "ST6GALNAC4", "organism": "Human", "refseq_name": "alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase isoform a", "refseq_ac": "NP_778204", "gene_names_uniprotkb": "ST6GALNAC4; SIAT3C; SIAT7D", "gene_names_refseq": "IV; SIAT3-C; SIAT3C; SIAT7-D; SIAT7D; ST6GALNAC4; ST6GALNACIV; ST6GalNAc", "protein_names_uniprotkb": "Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase; 2.4.3.7; NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2,6-sialyltransferase; SIAT3-C; SIAT7-D; ST6GalNAc IV; ST6GalNAcIV; Sialyltransferase 3C; Sialyltransferase 7D", "protein_names_refseq": "NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2, 6-sialyltransferase IV; NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2, 6-sialyltransferase alpha2,6-sialyltransferase; ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4; ST6 GalNAc alpha-2,6-sialyltransferase 4; ST6 neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminidealpha-2,6-sialyltransferase 4; alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase isoform a; alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase; sialyltransferase 3C; sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1, 3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)", "tax_id": 9606, "disease": "", "pathway": " (hsa:27090); (R-HSA-4085001); (R-HSA-9683673); (R-HSA-9694548); (R-HSA-9694719); (R-HSA-977068)", "pathway_count": 6, "publication_count": 95, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10191093;10206952;10330343;10334995;10369878;10405317;10431835;10504389;10536037;10581036;10742600;10749855;10861246;10947946;11062056;11237011;11279095;11528398;11602804;11751519;11916006;12177386;12235148;12473780;12603328;12668675;12743242;14962670;15136692;15213228;15466199;15501818;15576474;16147865;16237198;16319059;16474139;17081983;17123352;1756715;18598683;18632803;19797320;21081508;22692205;22915798;23584533;2373995;25418920;25892735;26154972;26715099;26929215;26992070;29242379;29632046;29769354;30315122;30410026;30524438;3136930;31844290;32157095;32350084;32363391;32366695;32518941;32676595;33310888;33717175;34117209;34357683;34428449;34528721;34599882;34961524;35051231;35289036;37381011;38602029;7252518;7559389;7986008;8333853;8591035;8611500;8631981;8920913;8985184;9010752;9199191;9822625;9826427", "class_list": "glycogene;glycosyltransferase", "function": "Data show that serum from a patient with axonal Guillain-Barre syndrome (GBS) with IgG anti-GalNAc-GD1a antibody yielded positive immunostaining with X1, X2, and X3., [RefSeq, PubMed]; Human ST3Gal II and ST6GalNAc IV genes increase human serum-mediated cytotoxicity to xenogeneic cells., [RefSeq, PubMed]; ST6GALNAC4 promotes hepatocellular carcinogenesis by inducing abnormal glycosylation. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein prefers glycoproteins rather than glycolipids as substrates and shows restricted substrate specificity, utilizing only the trisaccharide sequence Neu5Ac-alpha-2,3-Gal-beta-1,3-GalNAc. In addition, it is involved in the synthesis of ganglioside GD1A from GM1B. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Transcript variants encoding different isoforms have been found for this gene. Readthrough transcripts exist for this gene and the downstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022]., [RefSeq]; This study implies the potential therapeutic application of miR-4299 and ST6GALNAC4 in modulating the invasion and tumorigenicity of follicular thyroid carcinoma cell, [RefSeq, PubMed]; Transfers the sialyl group (N-acetyl-alpha-neuraminyl or NeuAc) from CMP-NeuAc to the GalNAc residue on the NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc sequence of glycoproteins and glycolipids forming an alpha-2,6-linkage. Produces branched type disialyl structures by transfer of a sialyl group onto a GalNAc residue inside the backbone core chains. Prefers O-glycans to glycoproteins or glycolipids., [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": 1, "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": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 384, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q5T9D0;Q9NWU6;Q9UKU1;Q9ULB9;Q9Y3G3;Q9Y3G4", "ec_number_list": "2.4.3.1;2.4.3.2;2.4.3.4;2.4.3.6;2.4.3.7;2.4.99.-;2.4.3.3", "go_molecular_function": "GO:0008373 sialyltransferase activity;GO:0001665 alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity;GO:0047290 alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:0019082 viral protein processing;GO:0006664 glycolipid metabolic process;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine;GO:0009311 oligosaccharide metabolic process;GO:0001574 ganglioside biosynthetic process", "synthesized_glycan_count": 550, "hit_score": 10.4, "record_id": "Q9H4F1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P50281-1", "uniprot_id": "MMP14_HUMAN", "mass": 65894.0, "length": 582, "protein_name": "Matrix metalloproteinase-14", "gene_name": "MMP14", "organism": "Human", "refseq_name": "matrix metalloproteinase-14 preproprotein", "refseq_ac": "NP_004986", "gene_names_uniprotkb": "MMP14", "gene_names_refseq": "MMP-14; MMP-X1; MMP14; MT-MMP 1; MT-MMP; MT1-MMP; MT1MMP; MTMMP1; WNCHRS", "protein_names_uniprotkb": "Matrix metalloproteinase-14; 3.4.24.80; MMP-14; MMP-X1; MT-MMP 1; MT1-MMP; MT1MMP; MTMMP1; Membrane-type matrix metalloproteinase 1; Membrane-type-1 matrix metalloproteinase", "protein_names_refseq": "matrix metallopeptidase 14 (membrane-inserted); matrix metalloproteinase-14 preproprotein; matrix metalloproteinase-14; membrane type 1 metalloprotease; membrane-type-1 matrix metalloproteinase", "tax_id": 9606, "disease": "Winchester syndrome (Disease Ontology:DOID:0080696); intracranial aneurysm (Disease Ontology:DOID:10941); diabetic angiopathy (Disease Ontology:DOID:11713); dilated cardiomyopathy (Disease Ontology:DOID:12930); thoracic aortic aneurysm (Disease Ontology:DOID:14004); Marfan syndrome (Disease Ontology:DOID:14323); brain ischemia (Disease Ontology:DOID:2316); arteriosclerosis (Disease Ontology:DOID:2349); transitional cell carcinoma (Disease Ontology:DOID:2671); IgA glomerulonephritis (Disease Ontology:DOID:2986); ischemia (Disease Ontology:DOID:326); brain infarction (Disease Ontology:DOID:3454); breast carcinoma (Disease Ontology:DOID:3459); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); esophagus adenocarcinoma (Disease Ontology:DOID:4914); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); rheumatoid arthritis (Disease Ontology:DOID:7148); abdominal aortic aneurysm (Disease Ontology:DOID:7693)", "pathway": " (hsa:4323); (R-HSA-1442490); (R-HSA-1474228); (R-HSA-1592389); (R-HSA-9839383); (R-HSA-9856530)", "pathway_count": 6, "publication_count": 208, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10049780;10229672;10376603;10386589;10551873;10639123;10649434;10706100;10764742;10809722;10986281;11013208;11119712;11237011;11375993;11577169;11830519;11853546;11872628;11927537;11968001;12176338;12579531;12714657;12724311;12727852;12843408;1311314;1371271;1390635;14670950;1480033;14973287;15005656;15234972;15257288;15304325;15591058;15718470;15950618;15958533;16133547;1649600;16631740;16780920;16825197;16825321;1698775;1704217;1707285;17081065;17088321;17332331;17354228;17389600;17608959;1783204;18223680;18434311;18622425;18658137;18710921;19010778;19020623;19458085;19571574;19657146;19714641;19723632;19961596;2005102;20142769;20837484;21030783;21297635;21441952;21572390;21593211;2159879;21670566;2169257;2169335;2176865;21784848;21864727;21935455;22002060;22065321;22159414;22241472;22291036;22330140;22382088;2253219;2269296;22922033;23035980;23584533;2383557;23845380;25171405;2537292;2546891;25482542;2548603;2551898;25576301;2557753;25645385;25813380;26959113;27116935;27270613;27566546;27726376;27797339;2834383;2845110;28655772;29557506;29632711;29786170;29789417;30001391;3038863;30459171;3058116;30779550;31205027;31844290;31848261;32157095;3223920;32296767;32350084;32387766;32488085;32938616;32983136;33043033;33392160;33592498;33968037;34078123;34499618;34509645;35051231;35177851;35561310;35580925;36010968;37938771;38665916;38670210;38766853;39125675;39181201;4216367;6258630;6263256;6270089;6694361;7075587;7547873;7649159;7669817;7708715;7721107;7746327;7780967;7826345;7876172;7890645;7890717;7896811;7981201;8015608;8194591;8226919;8314771;8463259;8530478;8576151;8621565;8626565;8645182;8663255;8700127;8706726;8804434;8920930;8999957;9065415;9092507;9115292;9148753;9261109;9346290;9422744;9461298;9578462;9620797;9632662;9651395;9724659;9852107", "class_list": "", "function": "Calreticulin regulates the expression of MMP14 and ADAR1 through EIF2AK2 signaling to promote the proliferation and progression of malignant melanoma cells., [RefSeq, PubMed]; Endopeptidase that degrades various components of the extracellular matrix such as collagen (PubMed:8015608). Essential for pericellular collagenolysis and modeling of skeletal and extraskeletal connective tissues during development (By similarity). Activates progelatinase A/MMP2, thereby acting as a positive regulator of cell growth and migration (PubMed:22065321, PubMed:8015608). Involved in the formation of the fibrovascular tissues in association with pro-MMP2 (PubMed:12714657, PubMed:22065321). May be involved in actin cytoskeleton reorganization by cleaving PTK7 (PubMed:20837484). Acts as a regulator of Notch signaling by mediating cleavage and inhibition of DLL1 (PubMed:21572390). Cleaves ADGRB1 to release vasculostatin-40 which inhibits angiogenesis (PubMed:22330140). Acts as a negative regulator of the GDF15-GFRAL aversive response by mediating cleavage and inactivation of GFRAL (PubMed:35177851)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Endopeptidase that degrades various components of the extracellular matrix such as collagen. Essential for pericellular collagenolysis and modeling of skeletal and extraskeletal connective tissues during development. Activates progelatinase A/MMP2, thereby acting as a positive regulator of cell growth and migration. Involved in the formation of the fibrovascular tissues in association with pro-MMP2. May be involved in actin cytoskeleton reorganization by cleaving PTK7. Acts as a regulator of Notch signaling by mediating cleavage and inhibition of DLL1. Cleaves ADGRB1 to release vasculostatin-40 which inhibits angiogenesis. Acts as a negative regulator of the GDF15-GFRAL aversive response by mediating cleavage and inactivation of GFRAL., [UniProtKB, UniProtKB]; Exosomal lncRNA-MIAT promotes neovascularization via the miR-133a-3p/MMP-X1 axis in diabetic retinopathy., [RefSeq, PubMed]; Increased shedding of PECAM-1 associated with elevated serum MMP-14 levels as new blood indicators of dengue disease manifestation., [RefSeq, PubMed]; MMP-14 Exhibits Greater Expression, Content and Activity Compared to MMP-15 in Human Renal Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Proteins of the matrix metalloproteinase (MMP) 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. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [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": 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": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 6, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 20, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A8K5L0;Q6GSF3;Q92678", "ec_number_list": "3.4.24.24;3.4.21.75;3.4.24.-;3.4.24.80;3.4.21.-", "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004222 metalloendopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0005178 integrin binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "GO:0010831 positive regulation of myotube differentiation;GO:1905523 positive regulation of macrophage migration;GO:0071412 cellular response to genistein;GO:0001525 angiogenesis;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 22.3, "record_id": "P50281-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95045-1", "uniprot_id": "UPP2_HUMAN", "mass": 35527.0, "length": 317, "protein_name": "Uridine phosphorylase 2", "gene_name": "UPP2", "organism": "Human", "refseq_name": "uridine phosphorylase 2 isoform b", "refseq_ac": "NP_001128570", "gene_names_uniprotkb": "UPP2", "gene_names_refseq": "UDRPASE2; UP2; UPASE2; UPP2", "protein_names_uniprotkb": "Uridine phosphorylase 2; 2.4.2.3; UPase 2; UrdPase 2", "protein_names_refseq": "UPase 2; liver-specific uridine phosphorylase; urdPase 2; uridine phosphorylase 2 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:151531); (R-HSA-73614); (R-HSA-73621)", "pathway_count": 3, "publication_count": 55, "publication_id_list": "10364222;1063125;10681516;10899995;10989446;11083867;11133996;11237011;11306702;12124385;12199906;12352955;12429345;12808445;12849978;12947102;1406603;14609716;14725767;15130468;15385443;15689149;15733844;1590793;1597187;16377327;19291308;19401682;195585;1996353;20018850;2026611;20722631;2129526;2157703;21855639;2344353;2539852;2542307;2548513;2826576;2844225;3335503;3372530;35051231;37938771;39894887;7284378;7488099;7923172;8083224;8340387;9718352;9804782;9989599", "class_list": "", "function": "Catalyzes the reversible phosphorylytic cleavage of uridine to uracil and ribose-1-phosphate which can then be utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis (PubMed:12849978, PubMed:21855639). Shows broad substrate specificity and can also accept deoxyuridine and other analogous compounds (PubMed:12849978)., [UniProtKB, PubMed, PubMed]; Identification of the novel human uridine phosphorylase, UDPase 2, with broad substrate specificity; UPase-2 gene was mapped to chromosome 2q24.1 and the 2.2-kb mRNA was predominantly expressed in kidney, [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": 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": "B3KV87", "ec_number_list": "2.4.2.3", "go_molecular_function": "GO:0004850 uridine phosphorylase activity;GO:0042802 identical protein binding;GO:0009032 thymidine phosphorylase activity;GO:0016154 pyrimidine-nucleoside phosphorylase activity;GO:0047847 deoxyuridine phosphorylase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0045098 type III intermediate filament", "go_biological_process": "GO:0046079 dUMP catabolic process;GO:0006218 uridine catabolic process;GO:0044206 UMP salvage;GO:0042178 xenobiotic catabolic process;GO:0009116 nucleoside metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "O95045-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43822-1", "uniprot_id": "CF410_HUMAN", "mass": 28340.0, "length": 256, "protein_name": "Cilia- and flagella-associated protein 410", "gene_name": "CFAP410", "organism": "Human", "refseq_name": "nuclear encoded mitochondrial protein C21orf2 isoform 2", "refseq_ac": "NP_001258369", "gene_names_uniprotkb": "CFAP410; C21orf2; LRRC76", "gene_names_refseq": "C21orf2; CFAP410; LRRC76; RDMS; SMDAX; YF5/A2", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 410; C21orf-HUMF09G8.5; Leucine-rich repeat-containing protein 76; YF5/A2", "protein_names_refseq": "C21orf-HUMF09G8.5; leucine rich repeat containing 76; leucine-rich repeat-containing protein 76; nuclear encoded mitochondrial protein C21orf2 isoform 2; nuclear encoded mitochondrial protein C21orf2", "tax_id": 9606, "disease": "axial spondylometaphyseal dysplasia (Disease Ontology:DOID:0112299); retinal dystrophy with or without macular staphyloma (MONDO:MONDO:0060507)", "pathway": " (hsa:755)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "15068244;19369195;21834987;23186163;25418920;25576301;26167768;26290490;26294103;26811146;26974433;26992070;27548899;28422394;29242379;29493099;31530632;31844290;32387766;33141586;33633747;34211107;35580925;37188479;39227882;39255848;9325172;9465297", "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]; Downregulated protein level of C21orf2 in adult brain of patients with Down syndrome (DS) in contrast to Alzheimer's disease indicates that it can be considered specific for changes in DS., [RefSeq, PubMed]; Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]., [RefSeq]; Functional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). Involved in DNA damage repair (PubMed:26290490)., [UniProtKB, PubMed, PubMed, UniProtKB]; The C-terminus of CFAP410 forms a tetrameric helical bundle that is essential for its localization to the basal body., [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": "A8MPS9;O14993;Q8N5X6;Q99837;Q99838", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0036064 ciliary basal body", "go_biological_process": "GO:0006974 DNA damage response;GO:0007010 cytoskeleton organization;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "O43822-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C7H8-1", "uniprot_id": "KRA23_HUMAN", "mass": 13480.0, "length": 128, "protein_name": "Keratin-associated protein 2-3", "gene_name": "KRTAP2-3", "organism": "Human", "refseq_name": "keratin-associated protein 2-3", "refseq_ac": "NP_001158724", "gene_names_uniprotkb": "KRTAP2-3; KAP2.3; KRTAP2.3", "gene_names_refseq": "KAP2.3; KRTAP2-3; KRTAP2.3", "protein_names_uniprotkb": "Keratin-associated protein 2-3; High sulfur keratin-associated protein 2.4; Keratin-associated protein 2.3", "protein_names_refseq": "keratin-associated protein 2-3; keratin-associated protein 2.3", "tax_id": 9606, "disease": "", "pathway": " (hsa:730755); (hsa:85294); (R-HSA-6805567)", "pathway_count": 3, "publication_count": 12, "publication_id_list": "11279113;15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;36170816;9468612", "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 (By similarity)., [UniProtKB]; TGF-beta generates a population of cancer cells residing in G1 phase with high motility and metastatic potential via KRTAP2-3., [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:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "P0C7H8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5GJ75-1", "uniprot_id": "TP8L3_HUMAN", "mass": 32659.0, "length": 292, "protein_name": "Tumor necrosis factor alpha-induced protein 8-like protein 3", "gene_name": "TNFAIP8L3", "organism": "Human", "refseq_name": "tumor necrosis factor alpha-induced protein 8-like protein 3 isoform 1", "refseq_ac": "NP_997264", "gene_names_uniprotkb": "TNFAIP8L3; TIPE3", "gene_names_refseq": "TIPE3; TNFAIP8L3", "protein_names_uniprotkb": "Tumor necrosis factor alpha-induced protein 8-like protein 3; TNF alpha-induced protein 8-like protein 3; TNFAIP8-like protein 3", "protein_names_refseq": "TNF alpha-induced protein 8-like protein 3; TNFAIP8-like protein 3; tumor necrosis factor alpha-induced protein 8-like protein 3 isoform 1; tumor necrosis factor alpha-induced protein 8-like protein 3; tumor necrosis factor, alpha induced protein 8 like 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:388121); (R-HSA-1483255)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "11237011;21924498;25242044;25314070;25479791;27783229;29393594;29557506;29632046;31154438;31848261;32157095;33912179;35051231;36755222;36842565;37024453;38071098;38759744", "class_list": "", "function": "Acts as a lipid transfer protein. Preferentially captures and shuttles two lipid second messengers, i.e., phosphatidylinositol 4,5- bisphosphate and phosphatidylinositol 3,4,5-trisphosphate and increases their levels in the plasma membrane. Additionally, may also function as a lipid-presenting protein to enhance the activity of the PI3K-AKT and MEK-ERK pathways. May act as a regulator of tumorigenesis through its activation of phospholipid signaling., [UniProtKB, UniProtKB]; Comprehensive analysis of the prognostic and immunological roles of TIPE3 in Colon Cancer., [RefSeq, PubMed]; Down-regulated expression of TIPE3 inhibits malignant progression of non-small cell lung cancer via Wnt signaling., [RefSeq, PubMed]; Further MD simulations confirmed the dynamic stability of these lipids in the TH domain. This computational analysis thus provides insight into the binding mode of phospholipids in the TH domain of the TIPE family of proteins., [RefSeq, PubMed]; Human cancers have markedly upregulated TIPE3 expression. Knocking out TIPE3 diminishes tumorigenesis, whereas enforced TIPE3 expression enhances it in vivo, [RefSeq, PubMed]; TIPE3 protects mice from lipopolysaccharide-induced acute lung injury., [RefSeq, PubMed]; TIPE3 protein is highly expressed in most human carcinoma cell lines. These results suggest that TIPE3 may play important roles in carcinogenesis and cell secretion., [RefSeq, PubMed]; TIPE3 represses head and neck squamous cell carcinoma progression via triggering PGAM5 mediated mitochondria dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; Tumor necrosis factor-alpha-inducible protein 8-like protein 3 (TIPE3): a novel prognostic factor in 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": 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": "Q6ZWD1", "ec_number_list": "", "go_molecular_function": "GO:0035091 phosphatidylinositol binding;GO:0008526 phosphatidylinositol transfer activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0015914 phospholipid transport;GO:0042981 regulation of apoptotic process;GO:1902531 regulation of intracellular signal transduction;GO:0006644 phospholipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q5GJ75-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZL1-1", "uniprot_id": "UBL5_HUMAN", "mass": 8547.0, "length": 73, "protein_name": "Ubiquitin-like protein 5", "gene_name": "UBL5", "organism": "Human", "refseq_name": "ubiquitin-like protein 5", "refseq_ac": "NP_001041706", "gene_names_uniprotkb": "UBL5", "gene_names_refseq": "HUB1; UBL5", "protein_names_uniprotkb": "Ubiquitin-like protein 5", "protein_names_refseq": "beacon; testicular tissue protein Li 217; ubiquitin-like protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:59286); (R-HSA-72163)", "pathway_count": 2, "publication_count": 150, "publication_id_list": "10882114;11014198;11101529;11161819;11233976;11237011;11991638;12176931;12411573;12414731;12477934;12705895;12824502;14625303;14713954;15331561;16314458;16809785;17095540;17332742;17606899;18322460;18593880;19103666;19165350;19536130;20112406;20423332;20980672;21536652;2176635;22110043;22365833;22645359;22959432;22961380;23222130;23236153;23345524;23726919;24196718;24304693;24448447;24715725;24737827;24914973;25092792;25418920;25555158;25576301;2558966;25645385;25862789;26024233;26154972;26385511;26420826;26811146;26969736;26992070;27377154;27459055;27600516;27683217;27846572;27862975;27920218;28062851;28063628;28076346;28218747;28502770;28510447;28781166;28832583;28834231;28904123;29242379;29301961;29331515;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632046;2963332;29786170;30192525;30315122;30315277;30410026;30429286;30705154;30728453;30765414;30779550;30975767;31222486;31409651;31530632;31844290;31848261;32157095;32179686;32265295;32329775;32357974;32387766;32488085;32494006;32502341;32938616;32983136;33123756;33243851;33446560;33592498;33691108;33717175;33912179;33968037;33981976;34301950;34357683;34509645;34822310;34932366;35051231;35385551;35580925;36241641;36284347;37315790;37453225;3757028;37938771;38665916;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Findings establish UBL5 as a factor that promotes the functionality of the FA DNA repair pathway., [RefSeq, PubMed]; Moonlighting functions of the ubiquitin-like protein, Hub1/UBL-5. Review article, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Our results show that UBL5 plays an evolutionary conserved role in pre-mRNA splicing, the integrity of which is essential for the fidelity of chromosome segregation., [RefSeq, PubMed]; This gene encodes a member of a group of proteins similar to ubiquitin. The encoded protein is not thought to degrade proteins like ubiquitin but to affect their function through being bound to target proteins by an isopeptide bond. The gene product has been studied as a link to predisposition to obesity based on its expression in Psammomys obesus, the fat sand rat, which is an animal model for obesity studies. Variation in this gene was found to be significantly associated with some metabolic traits (PMID: 15331561) but not associated with childhood obesity (PMID: 19189687). Pseudogenes of this gene are located on chromosomes 3, 5 and 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]., [RefSeq]; Ubiquitin-like protein that plays a role in cell proliferation and sister chromatid cohesion by associating with spliceosomal proteins (PubMed:25092792). Participates thereby in pre-mRNA splicing by maintaining spliceosome integrity. Promotes the functional integrity of the Fanconi anemia DNA repair pathway by interacting with FANCI component and subsequently mediating the formation of FANCI homodimers (PubMed:25862789). Also plays a protective role against ER stress-induced apoptosis (PubMed:37315790)., [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": 0, "reported_mutagensis": 1, "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": "Q2NL89", "ec_number_list": "", "go_molecular_function": "GO:0031386 protein tag activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0015030 Cajal body", "go_biological_process": "GO:1903955 positive regulation of protein targeting to mitochondrion;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "Q9BZL1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P46531-1", "uniprot_id": "NOTC1_HUMAN", "mass": 272505.0, "length": 2555, "protein_name": "Neurogenic locus notch homolog protein 1", "gene_name": "NOTCH1", "organism": "Human", "refseq_name": "neurogenic locus notch homolog protein 1 preproprotein", "refseq_ac": "NP_060087", "gene_names_uniprotkb": "NOTCH1; TAN1", "gene_names_refseq": "AOS5; AOVD1; NOTCH1; TAN1; hN1", "protein_names_uniprotkb": "Neurogenic locus notch homolog protein 1; Notch 1; Translocation-associated notch protein TAN-1; hN1", "protein_names_refseq": "Notch homolog 1, translocation-associated; neurogenic locus notch homolog protein 1 preproprotein; neurogenic locus notch homolog protein 1; notch 1; translocation-associated notch protein TAN-1", "tax_id": 9606, "disease": "adult T-cell leukemia/lymphoma (Disease Ontology:DOID:0050523); Adams-Oliver syndrome (Disease Ontology:DOID:0060227); bicuspid aortic valve disease (Disease Ontology:DOID:0080332); aortic valve disease 1 (Disease Ontology:DOID:0080333); intestinal cancer (Disease Ontology:DOID:10155); Alzheimer's disease (Disease Ontology:DOID:10652); neurodegenerative disease (Disease Ontology:DOID:1289); retinopathy of prematurity (Disease Ontology:DOID:13025); brain cancer (Disease Ontology:DOID:1319); endometrial cancer (Disease Ontology:DOID:1380); alcohol use disorder (Disease Ontology:DOID:1574); cancer (Disease Ontology:DOID:162); congenital heart disease (Disease Ontology:DOID:1682); transient cerebral ischemia (Disease Ontology:DOID:224); hemangiopericytoma (Disease Ontology:DOID:264); adenocarcinoma (Disease Ontology:DOID:299); central nervous system cancer (Disease Ontology:DOID:3620); pulmonary fibrosis (Disease Ontology:DOID:3770); lung adenocarcinoma (Disease Ontology:DOID:3910); lung large cell carcinoma (Disease Ontology:DOID:4556); cholangiocarcinoma (Disease Ontology:DOID:4947); lung small cell carcinoma (Disease Ontology:DOID:5409); colorectal cancer (Disease Ontology:DOID:9256); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:4851); (R-HSA-1912399); (R-HSA-1912408); (R-HSA-1912420); (R-HSA-210744); (R-HSA-2122947); (R-HSA-2122948); (R-HSA-2644606); (R-HSA-2644607); (R-HSA-2660826); (R-HSA-2691232); (R-HSA-2894862); (R-HSA-350054); (R-HSA-5083630); (R-HSA-8941856); (R-HSA-9013508); (R-HSA-9013695); (R-HSA-9793380); (R-HSA-9818030); (R-HSA-9818749); (R-HSA-9824272); (R-HSA-9976102)", "pathway_count": 22, "publication_count": 279, "publication_id_list": "10.1101/2023.09.13.557529;10075724;10079256;10206645;10366590;10459009;10545110;10669757;10713164;10734111;10879540;10882063;10935626;10935637;10964718;11006133;11044625;11101851;11112321;11135303;11226752;11237011;11461910;11524432;11530204;11585921;11707585;11740940;11866432;11940647;12049766;12050117;12050162;12209127;12354787;12370315;12374742;12386158;12391150;12486116;12530964;12553912;12795601;1295745;14567914;14672936;14980219;14991602;15107403;15472075;15531924;15546612;15574878;15576031;15652348;15684396;15692013;15760269;15824097;15829515;15965470;16011479;16025100;16093323;16256737;16284625;16385447;16530044;16530045;16612405;16738328;16751179;17003037;17028573;17114293;17157496;17344417;17401372;17540598;17540599;17554337;17573339;17646408;17646409;1764995;17685488;17823410;18043734;18077452;18094723;18237417;18239137;18243100;18292551;18296446;1831692;18347015;18374649;18512783;18628966;18669648;18700817;18824583;18824585;18974129;19000840;19150886;19151708;19524514;19567869;19701457;19714243;19723635;19726682;19773441;19800882;20080834;20090754;20170518;20197277;20351093;20442293;20442780;20495621;20616313;20628156;20801121;20804727;20805998;20972443;21097675;21147854;21245387;21280156;21402699;21464124;21464368;21490058;21551231;21602795;21637926;21654843;21720365;21734707;21875955;22110129;22128911;22162134;22275372;22396495;22581777;22778262;22789539;23077289;23275004;23719902;23886940;24190977;24226769;24298019;24463449;24715725;24803430;24921206;25132448;25417103;25502872;25547411;25576301;25892735;26375851;26387946;26522984;26765751;26768311;26801977;26977885;27588483;27749937;27841855;27846572;28178531;28218747;28228285;28314751;28439555;28467828;28657654;28745885;28832583;28904123;29101237;29146722;29242379;29314611;29317506;29321718;29351928;29393594;29450944;29526543;29557506;29632711;29769354;30127001;30315122;30429286;30484775;30524438;30598546;31217245;31597699;31611695;31626249;31844290;32157095;32350084;32357974;32387766;32502341;32582032;32640524;32649885;32938616;32938750;32983136;33214551;33298915;33592498;33859744;33912179;33916908;33936100;33968037;34019948;34078123;34087483;34357683;34433824;34561969;35051231;35154160;35251023;35289036;36215666;37074911;37340703;38016980;38359610;38366389;38665916;39172098;39230995;39390606;7566092;7588063;7918097;8001118;8293978;8313469;8649374;8681805;8687460;8878478;9187150;9207795;9244301;9244302;9315665;9462510;9590294;9604939;9620803;9651681;9653148;9693032;9694793;9727485;9819428", "class_list": "", "function": "Astrocytic DLL4-NOTCH1 signaling pathway promotes neuroinflammation via the IL-6-STAT3 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Involved in the maturation of both CD4(+) and CD8(+) cells in the thymus. Important for follicular differentiation and possibly cell fate selection within the follicle. During cerebellar development, functions as a receptor for neuronal DNER and is involved in the differentiation of Bergmann glia. Represses neuronal and myogenic differentiation. May play an essential role in postimplantation development, probably in some aspect of cell specification and/or differentiation. May be involved in mesoderm development, somite formation and neurogenesis. May enhance HIF1A function by sequestering HIF1AN away from HIF1A. Required for the THBS4 function in regulating protective astrogenesis from the subventricular zone (SVZ) niche after injury. Involved in determination of left/right symmetry by modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO)., [UniProtKB, PubMed]; Notch1 signaling pathway promotes growth and metastasis of gastric cancer via modulating CDH5., [RefSeq, PubMed]; Prognostic Impact of Notch1 Intracellular Domain, P63, and c-MYC in Lacrimal Gland Adenoid Cystic Carcinoma., [RefSeq, PubMed]; This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 33, "predicted_n_glycosites": 3, "predicted_o_glycosites": 30, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 3, "mined_n_glycosites": 0, "mined_o_glycosites": 3, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 11, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 14, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 23, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 23, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 507, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 14, "disease_count": 24, "glyco_site_count": 59, "binding_glycan_count": 0, "secondary_ac_list": "Q59ED8;Q5SXM3", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0004857 enzyme inhibitor activity;GO:0004888 transmembrane signaling receptor activity;GO:0019899 enzyme binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0046579 positive regulation of Ras protein signal transduction;GO:0048708 astrocyte differentiation;GO:0003208 cardiac ventricle morphogenesis;GO:0090051 negative regulation of cell migration involved in sprouting angiogenesis;GO:0003192 mitral valve formation", "synthesized_glycan_count": 0, "hit_score": 32.0, "record_id": "P46531-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PQ0-1", "uniprot_id": "SORC2_HUMAN", "mass": 128152.0, "length": 1159, "protein_name": "VPS10 domain-containing receptor SorCS2", "gene_name": "SORCS2", "organism": "Human", "refseq_name": "VPS10 domain-containing receptor SorCS2", "refseq_ac": "NP_065828", "gene_names_uniprotkb": "SORCS2; KIAA1329", "gene_names_refseq": "SORCS2", "protein_names_uniprotkb": "VPS10 domain-containing receptor SorCS2", "protein_names_refseq": "SORCS2A S716P; SORCS2B S716P; SORCS2C S716P; SORCS2D S716P; VPS10 domain receptor protein; VPS10 domain-containing receptor SorCS2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57537)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;11499680;19308021;19328558;19851296;20080650;22155786;23090970;23481700;23584533;24190977;24715725;24908487;27457814;29393594;29557506;29741879;30252935;30429286;30459171;30840898;31562781;32387766;32938616;33141586;33592498;33968037;33981976;34087483;34741697;35051231;36010968;36215666;37074911;37507021", "class_list": "", "function": "Alternative splicing regulates adaptor protein binding, trafficking, and activity of the Vps10p domain receptor SorCS2 in neuronal development., [RefSeq, PubMed]; Association of Pharmacogenetic Markers With Atazanavir Exposure in HIV-Infected Women., [RefSeq, PubMed]; Does not promote Schwann cell apoptosis in response to proBDNF., [UniProtKB, PubMed]; Findings highlight a protective role for SorCS2 in neuronal stress response and provide a possible explanation for upregulation of this receptor seen in surviving neurons of the human epileptic brain., [RefSeq, PubMed]; Loss of SORCS2 is Associated with Neuronal DNA Double-Strand Breaks., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed, PubMed]; SorCS2 104 kDa chain and SorCS2 18 kDa chain together promote Schwann cell apoptosis in response to proBDNF., [UniProtKB, PubMed]; The heterodimer formed by NGFR and SORCS2 functions as receptor for the precursor forms of NGF (proNGF) and BDNF (proBDNF) (PubMed:22155786, PubMed:24908487). ProNGF and proBDNF binding both promote axon growth cone collapse (in vitro) (PubMed:22155786, PubMed:24908487). Plays a role in the regulation of dendritic spine density in hippocampus neurons (By similarity). Required for normal neurite branching and extension in response to BDNF (PubMed:27457814). Plays a role in BDNF-dependent hippocampal synaptic plasticity. Together with NGFR and NTRK2, is required both for BDNF-mediated synaptic long-term depression and long-term potentiation (PubMed:27457814). ProNGF binding promotes dissociation of TRIO from the heterodimer, which leads to inactivation of RAC1 and/or RAC2 and subsequent reorganization of the actin cytoskeleton (PubMed:22155786). Together with the retromer complex subunit VPS35, required for normal expression of GRIN2A at synapses and dendritic cell membranes. Required for normal expression of the amino acid transporter SLC1A1 at the cell membrane, and thereby contributes to protect cells against oxidative stress (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008]., [RefSeq]; We used human neural lineage cells to demonstrate in vitro a causal relationship between stress hormone levels and SORCS2 expression, and show that SORCS2 levels in culture are increased upon ethanol exposure and withdrawal, [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": 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": 1, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 51, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 15, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "Q9P2L7", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0008188 neuropeptide receptor activity", "go_cellular_component": "GO:0016020 membrane;GO:0043197 dendritic spine;GO:0043204 perikaryon;GO:0031901 early endosome membrane;GO:0055038 recycling endosome membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0007218 neuropeptide signaling pathway;GO:0060292 long-term synaptic depression", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q96PQ0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WW36-1", "uniprot_id": "ZCH13_HUMAN", "mass": 18005.0, "length": 166, "protein_name": "Zinc finger CCHC domain-containing protein 13", "gene_name": "ZCCHC13", "organism": "Human", "refseq_name": "zinc finger CCHC domain-containing protein 13", "refseq_ac": "NP_976048", "gene_names_uniprotkb": "ZCCHC13", "gene_names_refseq": "CNBP2; ZCCHC13; ZNF9L", "protein_names_uniprotkb": "Zinc finger CCHC domain-containing protein 13", "protein_names_refseq": "zinc finger CCHC domain-containing protein 13; zinc finger, CCHC domain containing 13", "tax_id": 9606, "disease": "myotonic dystrophy type 2 (Disease Ontology:DOID:0050759)", "pathway": " (hsa:389874)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "10.1101/2023.09.13.557529;30940166", "class_list": "", "function": "This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 3. However, the CDS of this intronless gene remains relatively intact, it is conserved in other mammalian species, it is known to be transcribed, and it is therefore thought to encode a functional protein. The encoded protein contains six CCHC-type zinc fingers, and is thus thought to function as a transcription factor. [provided by RefSeq, May 2010]., [RefSeq]; ZCCHC13 functions an oncogene for hepatocellular carcinoma, and DNA hypomethylation is a driving factor in carcinogenesis. 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": 7, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0003729 mRNA binding;GO:0008270 zinc ion binding;GO:0003727 single-stranded RNA binding;GO:0045182 translation regulator activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:2000767 positive regulation of cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8WW36-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z4S9-3", "uniprot_id": "SH2D6_HUMAN", "mass": 36258.0, "length": 335, "protein_name": "SH2 domain-containing protein 6", "gene_name": "SH2D6", "organism": "Human", "refseq_name": "SH2 domain-containing protein 6", "refseq_ac": "NP_001381392", "gene_names_uniprotkb": "SH2D6", "gene_names_refseq": "SH2D6; SLNK", "protein_names_uniprotkb": "SH2 domain-containing protein 6", "protein_names_refseq": "SH2 domain-containing protein 6; SH2 linker protein related to BLNK", "tax_id": 9606, "disease": "", "pathway": " (hsa:284948)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "31800155", "class_list": "", "function": "ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario., [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": 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": "A0A8I5KXG6;A6ND14;Q6R306", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q7Z4S9-3", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BXL7-1", "uniprot_id": "CAR11_HUMAN", "mass": 133284.0, "length": 1154, "protein_name": "Caspase recruitment domain-containing protein 11", "gene_name": "CARD11", "organism": "Human", "refseq_name": "caspase recruitment domain-containing protein 11", "refseq_ac": "NP_001311210", "gene_names_uniprotkb": "CARD11; CARMA1", "gene_names_refseq": "BENTA; BIMP3; CARD11; CARMA1; IMD11A; IMD11; PPBL", "protein_names_uniprotkb": "Caspase recruitment domain-containing protein 11; CARD-containing MAGUK protein 1; Carma 1", "protein_names_refseq": "CARD-containing MAGUK protein 1; bcl10-interacting maguk protein 3; carma 1; caspase recruitment domain-containing protein 11", "tax_id": 9606, "disease": "diffuse large B-cell lymphoma (Disease Ontology:DOID:0050745); immunodeficiency 11A (Disease Ontology:DOID:0111957); immunodeficiency 11B (Disease Ontology:DOID:0111958); T-cell acute lymphoblastic leukemia (Disease Ontology:DOID:5603); BENTA disease (MONDO:MONDO:0014645)", "pathway": " (hsa:84433); (R-HSA-1169091); (R-HSA-202424); (R-HSA-2871837); (R-HSA-5607764)", "pathway_count": 5, "publication_count": 166, "publication_id_list": "10066435;10187770;10230406;10321728;10514424;10593898;10698680;10702308;10716940;10779524;10838074;10882101;11053425;11057907;11090634;11237011;11262391;11278692;11325957;11356195;11358993;11460167;11606584;11772397;11884229;12070292;12118249;12154356;12154360;12356734;12473183;12473184;12660731;14514672;14695475;15105418;15122200;15125833;15145317;15327770;15371334;15541657;15845454;16056267;16186825;16252004;16301747;16341139;16356853;16356855;16356856;16612002;16831874;16978534;17047224;17072321;17135271;17158449;17287217;17363905;17428801;17468049;17496917;17548359;1756723;17728323;17948050;18462924;18772140;19066035;19359218;19690332;19909372;19934406;20038579;20193029;20300203;20449947;20538596;20685844;21157432;21525931;21966355;22069318;22265677;22424782;22544926;22798961;23129749;23186163;23374270;23481700;23561803;24074955;24224005;24714562;24715725;26154972;26728094;26992070;27777308;27846572;27869121;27893789;27920218;28514659;28628108;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632711;29786170;30379171;30429286;31217245;3129195;31296852;31492838;31844290;31848261;32157095;32502341;32983136;33141586;33298915;33691108;33936100;33968037;34932366;35051231;35494241;35580925;37086690;37385446;37562004;37906628;38650932;7479848;7479976;7499357;7575604;7612269;7628694;7809113;7831327;7862124;7957109;8387275;8550590;8601309;8670417;8972730;9135156;9252186;9315679;9362451;9687533;9721103;9859996;9914500;9990852;9990853", "class_list": "", "function": "A novel variant in caspase recruitment domain family member 11 highlights the variability of clinical manifestations and management in a three generation family., [RefSeq, PubMed]; Adapter protein that plays a key role in adaptive immune response by transducing the activation of NF-kappa-B downstream of T-cell receptor (TCR) and B-cell receptor (BCR) engagement (PubMed:11278692, PubMed:11356195, PubMed:12356734). Transduces signals downstream TCR or BCR activation via the formation of a multiprotein complex together with BCL10 and MALT1 that induces NF-kappa-B and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways (PubMed:11356195). Upon activation in response to TCR or BCR triggering, CARD11 homooligomerizes to form a nucleating helical template that recruits BCL10 via CARD-CARD interaction, thereby promoting polymerization of BCL10 and subsequent recruitment of MALT1: this leads to I-kappa-B kinase (IKK) phosphorylation and degradation, and release of NF-kappa-B proteins for nuclear translocation (PubMed:24074955). Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner (PubMed:17287217). Promotes linear ubiquitination of BCL10 by promoting the targeting of BCL10 to RNF31/HOIP (PubMed:27777308). Stimulates the phosphorylation of BCL10 (PubMed:11356195). Also activates the TORC1 signaling pathway (PubMed:28628108)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; CARD11 dominant negative mutation leads to altered human Natural Killer cell homeostasis., [RefSeq, PubMed]; CARD11 gain of function upregulates BCL2A1 expression and promotes resistance to targeted therapies combination in B-cell lymphoma., [RefSeq, PubMed]; CARD11 regulates the thymic Treg development in an NF-kappaB-independent manner. Publication Status: Online-Only, [RefSeq, PubMed]; CARMA1 is a critical lipid raft-associated regulator of TCR-induced NF-kappa B activation and CD28 costimulation-dependent Jnk activation., [RefSeq, PubMed]; CARMA1 is an essential signaling component that mediates TCR-induced NF-kappa B activation., [RefSeq, PubMed]; DOK3 promotes atopic dermatitis by enabling the phosphatase PP4C to inhibit the T cell signaling mediator CARD11., [RefSeq, PubMed]; The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [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": 17, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 134, "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": "A4D1Z7;Q2NKN7;Q548H3", "ec_number_list": "", "go_molecular_function": "GO:0004385 GMP kinase activity;GO:0035591 signaling adaptor activity;GO:0050700 CARD domain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0045121 membrane raft;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007165 signal transduction;GO:0051260 protein homooligomerization;GO:0031295 T cell costimulation;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0050862 positive regulation of T cell receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 17.0, "record_id": "Q9BXL7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P55061-1", "uniprot_id": "BI1_HUMAN", "mass": 26538.0, "length": 237, "protein_name": "Bax inhibitor 1", "gene_name": "TMBIM6", "organism": "Human", "refseq_name": "bax inhibitor 1 isoform 2", "refseq_ac": "NP_001092046", "gene_names_uniprotkb": "TMBIM6; BI1; TEGT", "gene_names_refseq": "BAXI1; BI-1; TEGT; TMBIM6", "protein_names_uniprotkb": "Bax inhibitor 1; BI-1; Testis-enhanced gene transcript protein; Transmembrane BAX inhibitor motif-containing protein 6", "protein_names_refseq": "BAX inhibitor 1; bax inhibitor 1 isoform 2; testis enhanced gene transcript; testis-enhanced gene transcript protein; transmembrane BAX inhibitor motif-containing protein 6", "tax_id": 9606, "disease": "prostate carcinoma (Disease Ontology:DOID:10286); invasive ductal carcinoma (Disease Ontology:DOID:3008); cervical squamous cell carcinoma (Disease Ontology:DOID:3744)", "pathway": " (hsa:7009)", "pathway_count": 1, "publication_count": 106, "publication_id_list": "11237011;11466336;12875974;17074750;18446792;19328063;19748539;21068390;21075086;21136679;22128171;22418439;22869377;22898188;23783831;24029068;24714562;24715725;25418920;25469497;25576301;25645385;26154972;26375851;26811146;26929215;26992070;27543614;27600516;27846572;27893789;27920218;28063628;28228285;28446606;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29371260;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30484775;30524438;30779550;31092671;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33091337;33123756;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34185709;34561969;34562874;34651659;34846842;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;36639675;37938771;8530040;9660918", "class_list": "", "function": "Endoplasmic reticulum (ER)-resident protein that confers cellular protection as an anti-apoptotic protein by limiting multiple stress-inducing pathways surrounding the endoplasmic reticulum and mitochondria (PubMed:21075086, PubMed:21068390). Inhibits the activities of the key sensor for the endoplasmic reticulum unfolded protein response IRE1alpha/ERN1 both directly and by blocking BAX/BAK binding (PubMed:19328063). Modulates ER calcium homeostasis by acting as a calcium-leak channel (PubMed:22128171). Negatively regulates autophagy and autophagosome formation, especially during periods of nutrient deprivation, and reduces cell survival during starvation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; MiR302d3p regulates the viability, migration and apoptosis of breast cancer cells through regulating the TMBIM6mediated ERK signaling pathway., [RefSeq, PubMed]; Results indicate that the human Bax inhibitor-1 gene may serve as a prostate cancer expression marker based on its overexpression in prostate carcinoma and prostate cancer cell lines., [RefSeq, PubMed]; STRIP2 motivates non-small cell lung cancer progression by modulating the TMBIM6 stability through IGF2BP3 dependent. Publication Status: Online-Only, [RefSeq, PubMed]; TMBIM6 regulates redox-associated posttranslational modifications of IRE1alpha and ER stress response failure in aging mice and humans., [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": 2, "reported_glycation": 0, "reported_snv": 7, "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": "B2R5M4;F8W034;O14938;Q643A7;Q96J50", "ec_number_list": "", "go_molecular_function": "GO:0005262 calcium channel activity;GO:0019899 enzyme binding;GO:0031625 ubiquitin protein ligase binding;GO:0060698 endoribonuclease inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0006914 autophagy;GO:1902065 response to L-glutamate", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "P55061-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BSU1-1", "uniprot_id": "PHAF1_HUMAN", "mass": 47524.0, "length": 422, "protein_name": "Phagosome assembly factor 1", "gene_name": "PHAF1", "organism": "Human", "refseq_name": "phagosome assembly factor 1 isoform a", "refseq_ac": "NP_001307469", "gene_names_uniprotkb": "PHAF1; C16orf6; C16orf70", "gene_names_refseq": "C16orf6; C16orf70; LIN10; MYTHO; PHAF1; lin-10", "protein_names_uniprotkb": "Phagosome assembly factor 1", "protein_names_refseq": "UPF0183 protein C16orf70; macro-autophagy and youth optimizer; phagosome assembly factor 1 isoform a; phagosome assembly factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:80262)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;19773279;19913121;20628086;23481700;25880248;26992070;27862975;28228285;28446606;28832583;28904123;29242379;29393594;29632711;31154438;31217245;31844290;31848261;32357974;32387766;32502341;32897882;32938616;33298915;33499712;33537174;33717175;33912179;33968037;33981976;34087483;34405274;34509645;34561969;34932366;35051231;35580925;36010968;38869949;39894887", "class_list": "", "function": "C16ORF70/MYTHO promotes healthy aging in C.elegans and prevents cellular senescence in mammals. Publication Status: Online-Only, [RefSeq, 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, PubMed]; Plays a regulatory role in autophagic activity. In complex with BCAS3, associates with the autophagosome formation site during both non-selective and selective autophagy., [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": 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": "Q9HA86", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0030425 dendrite;GO:0030672 synaptic vesicle membrane;GO:0005802 trans-Golgi network;GO:0000407 phagophore assembly site", "go_biological_process": "GO:0043001 Golgi to plasma membrane protein transport", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9BSU1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q06330-1", "uniprot_id": "SUH_HUMAN", "mass": 55637.0, "length": 500, "protein_name": "Recombining binding protein suppressor of hairless", "gene_name": "RBPJ", "organism": "Human", "refseq_name": "recombining binding protein suppressor of hairless isoform 1", "refseq_ac": "NP_005340", "gene_names_uniprotkb": "RBPJ; IGKJRB1; IGKJRB; RBPJK; RBPSUH", "gene_names_refseq": "AOS3; CBF-1; CBF1; IGKJRB1; IGKJRB; KBF2; RBP-J kappa; RBP-JK; RBP-J; RBPJK; RBPJ; RBPSUH; SUH; csl", "protein_names_uniprotkb": "Recombining binding protein suppressor of hairless; CBF-1; J kappa-recombination signal-binding protein; RBP-J kappa; RBP-JK; RBP-J; Renal carcinoma antigen NY-REN-30", "protein_names_refseq": "CSL family DNA binding factor 1; H-2K binding factor-2; immunoglobulin kappa J region recombination signal binding protein 1; recombining binding protein suppressor of hairless isoform 1; recombining binding protein suppressor of hairless; renal carcinoma antigen NY-REN-30; suppressor of hairless homolog", "tax_id": 9606, "disease": "Adams-Oliver syndrome (Disease Ontology:DOID:0060227); Adams-Oliver syndrome 3 (Disease Ontology:DOID:0061179); dilated cardiomyopathy (Disease Ontology:DOID:12930); alcohol use disorder (Disease Ontology:DOID:1574); aortic valve disease (Disease Ontology:DOID:62)", "pathway": " (hsa:3516); (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-9824272); (R-HSA-9976102)", "pathway_count": 14, "publication_count": 198, "publication_id_list": "10206645;10508479;10637481;10644367;10713164;10879540;10882063;10964718;11006133;11044625;11101851;11112321;11237011;11461910;11585921;11740940;11866432;11986231;12050117;12209127;12354787;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;18452278;18724371;18824583;18824585;18974129;19150886;19151708;19524514;19714243;19723635;19726682;19773441;19800882;20058876;20080834;20090754;20351093;20442293;20442780;20495621;20801121;20804727;20805998;20972443;21102556;21280156;21402699;21551231;21602795;21637926;21875955;21991380;22110129;22302987;22396495;22645359;22883147;23303788;23571214;24715725;25417103;25576301;25645385;25880248;25892735;26154972;26375851;26387946;26522984;26801977;26977885;26992070;27749937;27841855;27846572;27920218;28178531;28228285;28832583;28834231;28904123;29030483;29101237;29146722;29242379;29331515;29493099;29508533;29557506;29632711;30059200;30315122;30524438;30779550;31154438;31222486;31530632;31844290;31848261;32119511;32157095;32488085;32502341;32897882;32938616;32938750;32983136;33123756;33214551;33298915;33592498;33717175;33912179;33968037;33981976;34019948;34078123;34171305;34561969;34725712;34932366;35051231;35138101;35289036;35561310;35580925;36010968;36284347;36477367;37051908;37756541;38665916;39002703;40596516;41086914;7566092;7588063;8001118;8016657;8406481;8627785;8649374;8687460;8878478;9244301;9315665;9462510;9604939;9620803;9651681;9693032;9694793;9819428;9874765", "class_list": "", "function": "ETS1 and RBPJ transcriptionally regulate METTL14 to suppress TGF-beta1-induced epithelial-mesenchymal transition in human bronchial epithelial cells., [RefSeq, PubMed]; Jagged1 Acts as an RBP-J Target and Feedback Suppresses TNF-Mediated Inflammatory Osteoclastogenesis., [RefSeq, PubMed]; Rbpj Deficiency Disrupts Vascular Remodeling via Abnormal Apelin and Cdc42 (Cell Division Cycle 42) Activity in Brain Arteriovenous Malformation., [RefSeq, PubMed]; The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]., [RefSeq]; The structure, binding and function of a Notch transcription complex involving RBPJ and the epigenetic reader protein L3MBTL3., [RefSeq, PubMed]; Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations (PubMed:41086914). Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes. Probably represses or activates transcription via the recruitment of chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins, respectively. Specifically binds to the immunoglobulin kappa-type J segment recombination signal sequence. Binds specifically to methylated DNA (PubMed:21991380). Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen) (PubMed:23303788). Negatively regulates the phagocyte oxidative burst in response to bacterial infection by repressing transcription of NADPH oxidase subunits (By similarity)., [UniProtKB, PubMed, 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": 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": 8, "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": "B4DY22;Q5XKH9;Q6P1N3", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin 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_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0017053 transcription repressor complex", "go_biological_process": "GO:0036302 atrioventricular canal development;GO:0072554 blood vessel lumenization;GO:0060379 cardiac muscle cell myoblast differentiation;GO:0060844 arterial endothelial cell fate commitment;GO:0097101 blood vessel endothelial cell fate specification", "synthesized_glycan_count": 0, "hit_score": 20.2, "record_id": "Q06330-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60228-1", "uniprot_id": "EIF3E_HUMAN", "mass": 52221.0, "length": 445, "protein_name": "Eukaryotic translation initiation factor 3 subunit E", "gene_name": "EIF3E", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 3 subunit E", "refseq_ac": "NP_001559", "gene_names_uniprotkb": "EIF3E; EIF3S6; INT6", "gene_names_refseq": "EIF3-P48; EIF3E; EIF3S6; INT6; eIF3-p46", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 3 subunit E; Eukaryotic translation initiation factor 3 subunit 6; Viral integration site protein INT-6 homolog; eIF-3 p48; eIF3e", "protein_names_refseq": "eIF-3 p48; eukaryotic translation initiation factor 3 subunit 6; eukaryotic translation initiation factor 3 subunit E; eukaryotic translation initiation factor 3, subunit 6 (48kD); eukaryotic translation initiation factor 3, subunit 6 48kDa; mammary tumor-associated protein INT6; murine mammary tumor integration site 6 (oncogene homolog); viral integration site protein INT-6 homolog", "tax_id": 9606, "disease": "intermittent claudication (Disease Ontology:DOID:3669)", "pathway": " (hsa:3646); (R-HSA-156827); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706)", "pathway_count": 7, "publication_count": 146, "publication_id_list": "10364207;10504338;10659855;1095581;11018020;1104615;11237011;11457827;11590142;12220626;12386384;12493757;12588972;14567916;14654843;15104674;15703437;15944288;16023166;16322461;16766523;16973618;17310990;17322308;17324924;17468741;17581632;17761670;1856230;18599441;18669648;18691976;18991276;19651622;20068231;20112406;21745818;22223895;22645359;22898188;23186163;23301498;24275569;24366607;24714562;24715725;25469497;25576301;25645385;25849773;25880248;25892735;26024233;26154972;26811146;26853435;26992070;27462815;27600516;27846572;27862975;27920218;28218747;28228285;28446606;28649982;28832583;28834231;28904123;29242379;29331515;29437277;29493099;29557506;29769354;30315122;30379171;30410026;30484775;30524438;31217245;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32870666;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34191006;34211107;34357683;34509645;34561969;34725712;34932366;35051231;35138101;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38124661;38665916;39990658;40914422;429297;592398;592399;641056;6853548;6901506;7000367;8688078;8943342;9045610;9045906;9295280;9403073;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. Required for nonsense-mediated mRNA decay (NMD); may act in conjunction with UPF2 to divert mRNAs from translation to the NMD pathway. May interact with MCM7 and EPAS1 and regulate the proteasome-mediated degradation of these proteins., [UniProtKB, HAMAP, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Epigenetic dysregulation of eukaryotic initiation factor 3 subunit E (eIF3E) by lysine methyltransferase REIIBP confers a pro-inflammatory phenotype in t(4;14) myeloma. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-335-3p inhibits cell proliferation and induces cell cycle arrest and apoptosis in acute myeloid leukemia by targeting EIF3E., [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": 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": "O43902;Q64058;Q64059;Q64252;Q6FG33;Q8WVK4", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0045296 cadherin binding;GO:0003743 translation initiation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0014069 postsynaptic density", "go_biological_process": "GO:0006413 translational initiation;GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;GO:0045947 negative regulation of translational initiation;GO:0045727 positive regulation of translation;GO:0006446 regulation of translational initiation", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "P60228-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08962-1", "uniprot_id": "CD63_HUMAN", "mass": 25637.0, "length": 238, "protein_name": "CD63 antigen", "gene_name": "CD63", "organism": "Human", "refseq_name": "CD63 antigen isoform A", "refseq_ac": "NP_001244318", "gene_names_uniprotkb": "CD63; MLA1; TSPAN30", "gene_names_refseq": "AD1; CD63; HOP-26; ME491; MLA1; OMA81H; Pltgp40; TSPAN30", "protein_names_uniprotkb": "CD63 antigen; Granulophysin; LAMP-3; Limp1; Lysosomal-associated membrane protein 3; Lysosome integral membrane protein 1; Melanoma-associated antigen ME491; OMA81H; Ocular melanoma-associated antigen; Tetraspanin-30; Tspan-30", "protein_names_refseq": "AD1 antigen; CD63 antigen (melanoma 1 antigen); CD63 antigen isoform A; granulophysin; limp1; melanoma-associated antigen ME491; melanoma-associated antigen MLA1; ocular melanoma-associated antigen; tetraspanin-30; tspan-30", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); carotid artery disease (Disease Ontology:DOID:3407); diabetic neuropathy (Disease Ontology:DOID:9743)", "pathway": " (hsa:967); (R-HSA-114608); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 71, "publication_id_list": "10.1007/s00018-021-03863-1;10.1101/2023.09.13.557529;10793155;11237011;12754519;1339263;1435334;14630798;15297306;15351990;1599482;16917503;17897319;19159218;1939168;19640571;1993697;2171551;21803846;21962903;22431521;22660413;23090970;23632027;23640497;23650620;24190977;24635319;25502872;27846572;28467828;28904123;29557506;29741879;31844290;32125861;32157095;32350084;32387766;32488085;32938616;32983136;33043033;33392160;3365686;33936100;34019948;34089345;34171305;34357683;34725712;34932366;35051231;35154160;35251023;35318648;35580925;36010968;36215666;36284347;37074911;37198427;37525398;38330730;38665916;38682696;4062294;6457647;7682577;8467233;8692836", "class_list": "", "function": "Arf GTPase-Activating proteins ADAP1 and ARAP1 regulate incorporation of CD63 in multivesicular bodies., [RefSeq, PubMed]; Differential proteomics argues against a general role for CD9, CD81 or CD63 in the sorting of proteins into extracellular vesicles., [RefSeq, PubMed]; Functions as a cell surface receptor for TIMP1 and plays a role in the activation of cellular signaling cascades. Plays a role in the activation of ITGB1 and integrin signaling, leading to the activation of AKT, FAK/PTK2 and MAP kinases. Promotes cell survival, reorganization of the actin cytoskeleton, cell adhesion, spreading and migration, via its role in the activation of AKT and FAK/PTK2. Plays a role in VEGFA signaling via its role in regulating the internalization of KDR/VEGFR2. Plays a role in intracellular vesicular transport processes, and is required for normal trafficking of the PMEL luminal domain that is essential for the development and maturation of melanocytes. Plays a role in the adhesion of leukocytes onto endothelial cells via its role in the regulation of SELP trafficking. May play a role in mast cell degranulation in response to Ms4a2/FceRI stimulation, but not in mast cell degranulation in response to other stimuli., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Lack of involvement of CD63 and CD9 tetraspanins in the extracellular vesicle content delivery process. 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. The encoded protein is a cell surface glycoprotein that is known to complex with integrins. It may function as a blood platelet activation marker. Deficiency of this protein is associated with Hermansky-Pudlak syndrome. Also this gene has been associated with tumor progression. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Apr 2012]., [RefSeq]; The subtilisin-like protease furin regulates hemin-induced CD63 surface expression on platelets., [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": 5, "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": 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": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 112, "disease_count": 3, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "F8VZE2;Q5TZP3;Q8N6Z9;Q9UCG6", "ec_number_list": "", "go_molecular_function": "GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0031904 endosome lumen;GO:0070062 extracellular exosome", "go_biological_process": "GO:1901379 regulation of potassium ion transmembrane transport;GO:0010633 negative regulation of epithelial cell migration;GO:0015031 protein transport;GO:0016477 cell migration;GO:0030855 epithelial cell differentiation", "synthesized_glycan_count": 0, "hit_score": 19.0, "record_id": "P08962-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14683-1", "uniprot_id": "SMC1A_HUMAN", "mass": 143233.0, "length": 1233, "protein_name": "Structural maintenance of chromosomes protein 1A", "gene_name": "SMC1A", "organism": "Human", "refseq_name": "structural maintenance of chromosomes protein 1A isoform 1", "refseq_ac": "NP_006297", "gene_names_uniprotkb": "SMC1A; DXS423E; KIAA0178; SB1.8; SMC1L1; SMC1", "gene_names_refseq": "CDLS2; DEE85; DXS423E; EIEE85; SB1.8; SMC1A; SMC1L1; SMC1alpha; SMC1; SMCB", "protein_names_uniprotkb": "Structural maintenance of chromosomes protein 1A; SMC protein 1A; SMC-1-alpha; SMC-1A; Sb1.8", "protein_names_refseq": "SMC protein 1A; SMC-1-alpha; SMC1 (structural maintenance of chromosomes 1, yeast)-like 1; epididymis secretory sperm binding protein; segregation of mitotic chromosomes 1; structural maintenance of chromosomes protein 1A isoform 1", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 85 (Disease Ontology:DOID:0070380); Cornelia de Lange syndrome 2 (Disease Ontology:DOID:0080506); Cornelia de Lange syndrome (Disease Ontology:DOID:11725); congestive heart failure (Disease Ontology:DOID:6000); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:8243); (R-HSA-1221632); (R-HSA-2467813); (R-HSA-2468052); (R-HSA-2470946); (R-HSA-2500257); (R-HSA-3108214); (R-HSA-9018519)", "pathway_count": 8, "publication_count": 365, "publication_id_list": "10.1101/2023.09.13.557529;10409732;10411507;10500157;10574707;10828826;10873660;11010967;11034064;11076961;11081627;11103799;11136970;11165043;11237011;11345900;11371342;11410592;11452016;11509732;11581164;11673449;11682626;11792325;11877376;11877377;11889051;12194817;12199140;12498683;12612073;12959972;14631847;14657349;14675539;14730319;15001666;15125634;15175327;15235794;15276198;15282324;15302935;15339662;15343269;15345050;15355988;15514030;15608651;15723797;15737063;15821733;15823533;15829507;15837422;15940266;15958495;15959518;15986123;16009131;16030353;16046058;16087863;16113099;1630819;16478998;16541025;16604071;16608850;16618811;16626738;16682347;16688858;16810316;16980581;17013392;17112726;17113138;17221863;17273969;17277772;17463000;17495528;17510434;17525332;17637753;17666587;17690249;17693435;18077418;18097444;18187655;18219272;18256232;18322535;18358809;18411254;18452278;18476782;18533032;18614053;18625722;18669648;18691969;18708356;18716626;18762174;18805503;18996922;19001364;19020303;19098913;19146767;19274700;19287951;19295514;19321454;19383337;19596686;19608861;19622798;19629043;19690332;19691289;19696148;19701948;19706679;19718048;19779455;19906707;19956565;19965387;20016594;20016603;20068231;20112406;20190268;20219941;20220130;20358602;20498280;20570965;20634189;20635401;20682797;20705237;21056556;21098080;21106759;21111234;21147198;21151129;21284855;21388270;21390062;21445275;21550342;21573489;2181374;21835891;21872626;21878504;21878914;21934649;21940756;21987589;22056668;22101327;22265404;22424782;22492511;22508508;22545144;22628566;22635276;22645359;22661230;22704330;22751501;22885700;22977523;23145106;23172872;23186163;23192763;23301498;23303788;23403292;23435229;23481700;23723241;23750026;23871147;23906331;24027577;24124034;24167369;24366607;24371278;24714562;24715725;24735615;24782567;24854081;24885040;24973012;24998469;25114211;25218447;25296600;25365482;25418920;25433557;25542856;25576301;25633194;25645385;25663755;25674852;25728767;25880248;25892735;26056233;26153859;26154972;26204489;26375851;26462610;26479350;26673124;26728094;26929215;26992070;27062924;27600516;27846572;27886276;27920218;28063628;28166369;28218747;28228285;28446606;28510447;28514659;28539435;28832583;28834231;28904123;2919170;29242379;29314611;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;29988990;30315122;30379171;30397120;30429286;3045126;30484775;30524438;30702968;30779550;30833945;31154438;31217245;31222486;31334757;31452512;31530632;31844290;31848261;31998317;32119511;32157095;32265295;32350084;32357974;32387766;32409525;32488085;32502341;3281094;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33465208;33592498;33627431;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34260926;34357683;34405274;34509645;34561969;34932366;3498214;35008409;35051231;35251023;35318648;35561310;35580925;36010968;36241641;36284347;3677090;37217939;37537540;37541260;37938771;38282144;38665916;39149945;40596516;40914422;7559524;7757074;7935485;7937828;8195246;8197458;8291532;8419924;8794855;8876171;9008167;9201922;9285814;9295362;9338790;9388265;9412458;9452416;9611253;9649503;9671459;9731700;9756909;9789013;9885291;9892021", "class_list": "", "function": "AKT/FOXM1/STMN1 signaling pathway activation by SMC1A promotes tumor growth in breast cancer., [RefSeq, PubMed]; Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Involved in DNA repair via its interaction with BRCA1 and its related phosphorylation by ATM, or via its phosphorylation by ATR. Works as a downstream effector both in the ATM/NBS1 branch and in the ATR/MSH2 branch of S-phase checkpoint., [UniProtKB, PubMed]; Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]., [RefSeq]; SMC1A facilitates gastric cancer cell proliferation, migration, and invasion via promoting SNAIL activated EMT. Publication Status: Online-Only, [RefSeq, PubMed]; Structural Variants in the SMC1A Gene Associated With Near-Haploidy in Undifferentiated Pleomorphic Sarcomas., [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": 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": 16, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "O14995;Q16351;Q2M228", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0030893 meiotic cohesin complex;GO:0000794 condensed nuclear chromosome;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006281 DNA repair;GO:0051301 cell division;GO:0090307 mitotic spindle assembly;GO:0009314 response to radiation;GO:0034087 establishment of mitotic sister chromatid cohesion", "synthesized_glycan_count": 0, "hit_score": 37.2, "record_id": "Q14683-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95197-1", "uniprot_id": "RTN3_HUMAN", "mass": 112611.0, "length": 1032, "protein_name": "Reticulon-3", "gene_name": "RTN3", "organism": "Human", "refseq_name": "reticulon-3 isoform e", "refseq_ac": "NP_001252518", "gene_names_uniprotkb": "RTN3; ASYIP; NSPL2", "gene_names_refseq": "ASYIP; HAP; NSPL2; NSPLII; RTN3-A1; RTN3", "protein_names_uniprotkb": "Reticulon-3; HAP; Homolog of ASY protein; NSP-like protein 2; NSP-like protein II; NSPLII; Neuroendocrine-specific protein-like 2; Neuroendocrine-specific protein-like II", "protein_names_refseq": "ASY interacting protein; NSP-like protein 2; NSP-like protein II; homolog of ASY protein; neuroendocrine-specific protein-like 2; neuroendocrine-specific protein-like II; reticulon-3 isoform e", "tax_id": 9606, "disease": "hereditary spastic paraplegia 12 (Disease Ontology:DOID:0110765); hereditary spastic paraplegia (Disease Ontology:DOID:2476); chronic kidney disease (Disease Ontology:DOID:784)", "pathway": " (hsa:10313); (R-HSA-8849932); (R-HSA-9918487)", "pathway_count": 3, "publication_count": 106, "publication_id_list": "10331947;11237011;12811824;12832288;14986927;15286784;15350194;15946766;16054885;16303743;16495444;16630835;16965550;16979658;17031492;17081983;17182608;17191123;17699523;18227064;18669648;19665976;19681166;20600927;21976701;22223895;23186163;24262037;24366607;24715725;25576301;25612671;26154972;26321637;26735137;26811146;26992070;27846572;27862975;28218747;28228285;28657654;28832583;28834231;28904123;29117567;29242379;29351928;29393594;29437277;29493099;29557506;29632711;29769354;29786170;30315122;30410026;30524438;30779550;30833945;31154438;31217245;31222486;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32620754;32890404;32897882;32938616;32983136;33298915;33392160;33465208;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34696522;35051231;35083852;35251023;35318648;35580925;35585045;35596061;36010968;36241641;37318453;38177122;38253038;38336146;38818751;40596516;7569905;8601796", "class_list": "", "function": "(Microbial infection) Plays a positive role in viral replication and pathogenesis of enteroviruses., [UniProtKB, PubMed]; Loss of RTN3 phenocopies chronic kidney disease and results in activation of the IGF2-JAK2 pathway in proximal tubular epithelial cells., [RefSeq, PubMed]; May be involved in membrane trafficking in the early secretory pathway. Inhibits BACE1 activity and amyloid precursor protein processing. May induce caspase-8 cascade and apoptosis. May favor BCL2 translocation to the mitochondria upon endoplasmic reticulum stress. Induces the formation of endoplasmic reticulum tubules (PubMed:25612671). Also acts as an inflammation-resolving regulator by interacting with both TRIM25 and RIGI, subsequently impairing RIGI 'Lys-63'-linked polyubiquitination leading to IRF3 and NF-kappa-B inhibition., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; RTN3 and RTN4: Architects of SARS-CoV-2 replication organelles., [RefSeq, PubMed]; RTN3 deficiency exacerbates cisplatin-induced acute kidney injury through the disruption of mitochondrial stability., [RefSeq, PubMed]; RTN3L and CALCOCO1 function in parallel to maintain proteostasis in the endoplasmic reticulum., [RefSeq, PubMed]; The ASYIP protein co-localizes with ASY in the endoplasmic reticulum. Characterization of the ASYIP gene helps to clarify ASY-induced apoptosis or Nogo-involved inhibition of neuronal regeneration in the central nervous system., [RefSeq, PubMed]; This gene belongs to the reticulon family of highly conserved genes that are preferentially expressed in neuroendocrine tissues. This family of proteins interact with, and modulate the activity of beta-amyloid converting enzyme 1 (BACE1), and the production of amyloid-beta. An increase in the expression of any reticulon protein substantially reduces the production of amyloid-beta, suggesting that reticulon proteins are negative modulators of BACE1 in cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, and pseudogenes of this gene are located on chromosomes 4 and 12. [provided by RefSeq, May 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": 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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B3KQS2;B7Z308;B7Z4M0;F5H774;Q147U9;Q496K2;Q53GN3;Q59EP0;Q5UEP2;Q6T930;Q7RTM7;Q7RTM8;Q7RTN3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0071786 endoplasmic reticulum tubular network organization;GO:0006915 apoptotic process;GO:1902430 negative regulation of amyloid-beta formation;GO:0007420 brain development;GO:0030182 neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "O95197-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P05156-1", "uniprot_id": "CFAI_HUMAN", "mass": 65750.0, "length": 583, "protein_name": "Complement factor I", "gene_name": "CFI", "organism": "Human", "refseq_name": "complement factor I isoform 3 preproprotein", "refseq_ac": "NP_001317964", "gene_names_uniprotkb": "CFI; IF", "gene_names_refseq": "AHUS3; ARMD13; C3BINA; C3b-INA; CFI; FI; IF; KAF", "protein_names_uniprotkb": "Complement factor I; 3.4.21.45; C3B/C4B inactivator", "protein_names_refseq": "C3B/C4B inactivator; C3b-inactivator; Konglutinogen-activating factor; complement component I; complement control protein factor I; complement factor I heavy chain; complement factor I isoform 3 preproprotein; light chain of factor I", "tax_id": 9606, "disease": "complement factor I deficiency (Disease Ontology:DOID:0050419); atypical hemolytic-uremic syndrome (Disease Ontology:DOID:0080301); age related macular degeneration 13 (Disease Ontology:DOID:0110025); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); nephrotic syndrome (Disease Ontology:DOID:1184); glomerulonephritis (Disease Ontology:DOID:2921); macular degeneration (Disease Ontology:DOID:4448); psoriasis (Disease Ontology:DOID:8893); atypical hemolytic-uremic syndrome with I factor anomaly (MONDO:MONDO:0013041)", "pathway": " (hsa:3426); (R-HSA-977606)", "pathway_count": 2, "publication_count": 102, "publication_id_list": "10.1101/2023.09.13.557529;10531307;1067618;11237011;11694537;11939578;12055245;12562389;1386357;14760718;15173250;16079145;16192651;16335952;16621965;16999828;17018561;17106690;17182573;17320177;17505110;18544012;19139490;19159218;19838169;20513133;2141838;21768352;21788512;22802338;23090970;23345538;23487775;23685748;24190977;2420889;2465906;2466593;2481448;25645385;27726376;27862975;28671664;293688;293746;29391424;2954545;29557506;2956252;29671580;2971659;29741879;301546;30237853;31848261;32125861;32938616;32983136;33592498;34509645;34725484;35051231;35580925;36010968;37074911;37217939;38134378;38395390;38423159;3848661;39894887;4098172;6214588;6219696;6222381;6230668;6238120;6327681;6334079;6444659;6454142;6607952;670886;6906228;702059;7360115;7391570;7542572;760802;761607;7672128;7690834;7691959;8345200;8495193;8613545;8786315;9038722;9291131;9479036;9605165;978134", "class_list": "", "function": "CNS Inflammation as the First Sign of Complement Factor I Deficiency., [RefSeq, PubMed]; Elevated expression of complement factor I in lung cancer cells associates with shorter survival-Potentially via non-canonical mechanism., [RefSeq, PubMed]; Hot Spot of Complement Factor I Rare Variant p.Ile357Met in Patients With Hemolytic Uremic Syndrome., [RefSeq, PubMed]; These findings demonstrate that rare, highly penetrant mutations in CFI contribute to the genetic burden of age-related macular degeneration., [RefSeq, PubMed]; This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]., [RefSeq]; Trypsin-like serine protease that plays an essential role in regulating the immune response by controlling all complement pathways. Inhibits these pathways by cleaving three peptide bonds in the alpha-chain of C3b and two bonds in the alpha-chain of C4b thereby inactivating these proteins (PubMed:17320177, PubMed:7360115). Essential cofactors for these reactions include factor H and C4BP in the fluid phase and membrane cofactor protein/CD46 and CR1 on cell surfaces (PubMed:12055245, PubMed:2141838, PubMed:9605165). The presence of these cofactors on healthy cells allows degradation of deposited C3b by CFI in order to prevent undesired complement activation, while in apoptotic cells or microbes, the absence of such cofactors leads to C3b-mediated complement activation and subsequent opsonization (PubMed:28671664)., [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": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "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": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 86, "disease_count": 9, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "O60442", "ec_number_list": "3.4.21.45", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0046872 metal ion binding;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0016485 protein processing;GO:0045087 innate immune response;GO:0006958 complement activation, classical pathway;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 19.6, "record_id": "P05156-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q05397-1", "uniprot_id": "FAK1_HUMAN", "mass": 119233.0, "length": 1052, "protein_name": "Focal adhesion kinase 1", "gene_name": "PTK2", "organism": "Human", "refseq_name": "focal adhesion kinase 1 isoform 3", "refseq_ac": "NP_001186578", "gene_names_uniprotkb": "PTK2; FAK1; FAK", "gene_names_refseq": "FADK 1; FADK; FAK1; FAK; FRNK; PPP1R71; PTK2; p125FAK; pp125FAK", "protein_names_uniprotkb": "Focal adhesion kinase 1; 2.7.10.2; FADK 1; FRNK; Focal adhesion kinase-related nonkinase; PPP1R71; Protein phosphatase 1 regulatory subunit 71; Protein-tyrosine kinase 2; p125FAK; pp125FAK", "protein_names_refseq": "FAK-related non-kinase polypeptide; PTK2 protein tyrosine kinase 2; focal adhesion kinase 1 isoform 3; focal adhesion kinase 1; focal adhesion kinase-related nonkinase; protein phosphatase 1 regulatory subunit 71", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); endometrial hyperplasia (Disease Ontology:DOID:0080365); prostate cancer (Disease Ontology:DOID:10283); hypertension (Disease Ontology:DOID:10763); nephritis (Disease Ontology:DOID:10952); leiomyoma (Disease Ontology:DOID:127); endometrial carcinoma (Disease Ontology:DOID:2871); endometriosis (Disease Ontology:DOID:289); cervix carcinoma (Disease Ontology:DOID:2893); ischemia (Disease Ontology:DOID:326); lung squamous cell carcinoma (Disease Ontology:DOID:3907); ovarian carcinoma (Disease Ontology:DOID:4001); cervical cancer (Disease Ontology:DOID:4362); uremia (Disease Ontology:DOID:4676); lung small cell carcinoma (Disease Ontology:DOID:5409); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:5747); (R-HSA-111465); (R-HSA-2029482); (R-HSA-354192); (R-HSA-354194); (R-HSA-372708); (R-HSA-375165); (R-HSA-391160); (R-HSA-3928662); (R-HSA-418885); (R-HSA-4420097); (R-HSA-5663213); (R-HSA-5673001); (R-HSA-8874081); (R-HSA-9009391); (R-HSA-9634638); (R-HSA-9664422); (R-HSA-9860927)", "pathway_count": 18, "publication_count": 1128, "publication_id_list": 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"class_list": "", "function": "Acidic preconditioning induced intracellular acid adaptation to protect renal injury via dynamic phosphorylation of focal adhesion kinase-dependent activation of sodium hydrogen exchanger 1. Erratum:[Cell Commun Signal. 2024 Sep 11;22(1):439. doi: 10.1186/s12964-024-01815-3. PMID: 39261884] Publication Status: Online-Only, [RefSeq, PubMed]; DCAF13 promotes ovarian cancer progression by activating FRAS1-mediated FAK signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Focal Adhesion Kinase and Colony Stimulating Factors: Intestinal Homeostasis and Innate Immunity Crosstalk. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Isoform 6 (FRNK) does not contain a kinase domain and inhibits PTK2/FAK1 phosphorylation and signaling. Its enhanced expression can attenuate the nuclear accumulation of LPXN and limit its ability to enhance serum response factor (SRF)-dependent gene transcription., [UniProtKB, PubMed]; Non-receptor protein-tyrosine kinase that plays an essential role in regulating cell migration, adhesion, spreading, reorganization of the actin cytoskeleton, formation and disassembly of focal adhesions and cell protrusions, cell cycle progression, cell proliferation and apoptosis. Required for early embryonic development and placenta development. Required for embryonic angiogenesis, normal cardiomyocyte migration and proliferation, and normal heart development. Regulates axon growth and neuronal cell migration, axon branching and synapse formation; required for normal development of the nervous system. Plays a role in osteogenesis and differentiation of osteoblasts. Functions in integrin signal transduction, but also in signaling downstream of numerous growth factor receptors, G protein-coupled receptors (GPCR), EPHA2, netrin receptors and LDL receptors. Forms multisubunit signaling complexes with SRC and SRC family members upon activation; this leads to the phosphorylation of additional tyrosine residues, creating binding sites for scaffold proteins, effectors and substrates. Regulates numerous signaling pathways. Promotes activation of phosphatidylinositol 3-kinase and the AKT1 signaling cascade. Promotes activation of MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling cascade. Promotes localized and transient activation of guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs), and thereby modulates the activity of Rho family GTPases. Signaling via CAS family members mediates activation of RAC1. Phosphorylates NEDD9 following integrin stimulation (PubMed:9360983). Recruits the ubiquitin ligase MDM2 to P53/TP53 in the nucleus, and thereby regulates P53/TP53 activity, P53/TP53 ubiquitination and proteasomal degradation. Phosphorylates SRC; this increases SRC kinase activity. Phosphorylates ACTN1, ARHGEF7, GRB7, RET and WASL. Promotes phosphorylation of PXN and STAT1; most likely PXN and STAT1 are phosphorylated by a SRC family kinase that is recruited to autophosphorylated PTK2/FAK1, rather than by PTK2/FAK1 itself. Promotes phosphorylation of BCAR1; GIT2 and SHC1; this requires both SRC and PTK2/FAK1. Promotes phosphorylation of BMX and PIK3R1. Isoform 6 (FRNK) does not contain a kinase domain and inhibits PTK2/FAK1 phosphorylation and signaling. Its enhanced expression can attenuate the nuclear accumulation of LPXN and limit its ability to enhance serum response factor (SRF)-dependent gene transcription., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [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": 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": 92, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 17, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4E2N6;F5H4S4;J3QT16;Q14291;Q8IYN9;Q9UD85", "ec_number_list": "2.7.12.2;2.7.11.10;2.7.11.1;2.7.10.1;2.7.10.2;2.7.12.1;2.7.11.39;3.6.5.2;3.6.4.10;2.7.1.40;3.1.3.48;3.6.5.-;2.7.1.32;2.7.1.82;2.7.10.4;2.7.1.153;2.7.1.137;3.4.22.60;2.7.11.13;2.7.11.17;2.7.11.23", "go_molecular_function": "GO:0003779 actin binding;GO:0004713 protein tyrosine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005178 integrin binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:0035995 detection of muscle stretch;GO:1900024 regulation of substrate adhesion-dependent cell spreading;GO:0051893 regulation of focal adhesion assembly;GO:0001525 angiogenesis;GO:0007229 integrin-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 113.4, "record_id": "Q05397-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P98194-1", "uniprot_id": "AT2C1_HUMAN", "mass": 100577.0, "length": 919, "protein_name": "Calcium-transporting ATPase type 2C member 1", "gene_name": "ATP2C1", "organism": "Human", "refseq_name": "calcium-transporting ATPase type 2C member 1 isoform 1c", "refseq_ac": "NP_001001485", "gene_names_uniprotkb": "ATP2C1; HUSSY-28; KIAA1347; PMR1L", "gene_names_refseq": "ATP2C1A; ATP2C1; BCPM; HHD; PMR1; SPCA1; hSPCA1", "protein_names_uniprotkb": "Calcium-transporting ATPase type 2C member 1; 7.2.2.10; ATP-dependent Ca(2+) pump PMR1; ATPase 2C1; Ca(2+)/Mn(2+)-ATPase 2C1; SPCA1; Secretory pathway Ca(2+)-transporting ATPase type 1", "protein_names_refseq": "ATP-dependent Ca(2+) pump PMR1; ATPase 2C1; ATPase, Ca(2+)-sequestering; ATPase, Ca++ transporting, type 2C, member 1; Ca(2+)/Mn(2+)-ATPase 2C1; HUSSY-28; calcium-transporting ATPase type 2C member 1 isoform 1c; calcium-transporting ATPase type 2C member 1; secretory pathway Ca(2+)-transporting ATPase type 1; secretory pathway Ca2+/Mn2+ ATPase 1", "tax_id": 9606, "disease": "Hailey-Hailey disease (Disease Ontology:DOID:0050429)", "pathway": " (hsa:27032); (R-HSA-936837)", "pathway_count": 2, "publication_count": 129, "publication_id_list": "10401004;10484781;10615129;10767338;11124703;11237011;11841554;11874499;12707275;14632183;15777939;15831496;15919184;15925480;16182249;16192278;16332677;1656976;16700898;18669648;18723824;19345671;19878721;20068231;20439740;21187401;2160952;21993680;22186024;23196729;23481700;24392018;24714562;24715725;25502872;25548167;25576301;26154972;26375851;26728094;26758079;26992070;27067231;27600516;27846572;27862975;27920218;28035777;28218747;28228285;28467828;28832583;28834231;28855257;28871256;28904123;29242379;29314611;29393594;29508533;29557506;29632711;29786170;30315122;30410026;30484775;30524438;30573663;30626607;30779550;30833945;30923126;31154438;31217245;31530632;31611695;31844290;31848261;31937595;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33926923;33936100;33968037;33981976;34078123;34171305;34211107;34357683;34433824;34509645;34932366;35051231;35154160;35251023;35274376;35318648;35580925;35787370;36010968;36215666;36241641;36284347;36789506;38111361;6832622;7626145;8045293;8298639;8490646;8490659;9147644;9307043", "class_list": "", "function": "ATP-driven pump that supplies the Golgi apparatus with Ca(2+) and Mn(2+) ions, both essential cofactors for processing and trafficking of newly synthesized proteins in the secretory pathway (PubMed:12707275, PubMed:16192278, PubMed:20439740, PubMed:21187401, PubMed:30923126). Within a catalytic cycle, acquires Ca(2+) or Mn(2+) ions on the cytoplasmic side of the membrane and delivers them to the lumenal side. The transfer of ions across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing to outward-facing state (PubMed:16192278, PubMed:16332677, PubMed:30923126). Plays a primary role in the maintenance of Ca(2+) homeostasis in the trans-Golgi compartment with a functional impact on Golgi and post-Golgi protein sorting as well as a structural impact on cisternae morphology (PubMed:14632183, PubMed:20439740). Responsible for loading the Golgi stores with Ca(2+) ions in keratinocytes, contributing to keratinocyte differentiation and epidermis integrity (PubMed:10615129, PubMed:14632183, PubMed:20439740). Participates in Ca(2+) and Mn(2+) ions uptake into the Golgi store of hippocampal neurons and regulates protein trafficking required for neural polarity (By similarity). May also play a role in the maintenance of Ca(2+) and Mn(2+) homeostasis and signaling in the cytosol while preventing cytotoxicity (PubMed:21187401)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Calcium and the Ca-ATPase SPCA1 modulate plasma membrane abundance of ZIP8 and ZIP14 to regulate Mn(II) uptake in brain microvascular endothelial cells., [RefSeq, PubMed]; Failed to yield any clear correlation between the nature of the mutation and clinical features of Hailey-Hailey disease., [RefSeq, PubMed]; Genome-wide association study identifies RNF123 locus as associated with chronic widespread musculoskeletal pain., [RefSeq, PubMed]; Loss of ATP2C1 function promotes trafficking and degradation of NOTCH1: Implications for Hailey-Hailey disease., [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]., [RefSeq]; Two novel mutations in the ATP2C1 gene found in Japanese patients with Hailey-Hailey disease., [RefSeq, PubMed]; Two patients with Hailey-Hailey disease with novel pathogenic ATP2C1 variants suggesting possible genotype/phenotype correlations., [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": 6, "reported_glycation": 0, "reported_snv": 5, "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": "B2RAT7;B4DSW3;B7Z3X9;G3XAH8;G8JLN9;O76005;Q86V72;Q86V73;Q8N6V1;Q8NCJ7", "ec_number_list": "7.2.2.10", "go_molecular_function": "GO:0005524 ATP binding;GO:0030145 manganese ion binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006816 calcium ion transport;GO:0006874 intracellular calcium ion homeostasis;GO:0008544 epidermis development;GO:0030036 actin cytoskeleton organization;GO:0042998 positive regulation of Golgi to plasma membrane protein transport", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "P98194-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BSE4-1", "uniprot_id": "HERP2_HUMAN", "mass": 45147.0, "length": 406, "protein_name": "Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein", "gene_name": "HERPUD2", "organism": "Human", "refseq_name": "homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein isoform 1", "refseq_ac": "NP_071768", "gene_names_uniprotkb": "HERPUD2", "gene_names_refseq": "HERPUD2", "protein_names_uniprotkb": "Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein", "protein_names_refseq": "homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2; homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein isoform 1; homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:64224)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;19240061;23481700;25418920;26992070;28228285;28832583;28904123;29493099;29632711;29769354;29786170;30315122;31092671;31217245;31844290;31848261;31998317;32157095;32161166;32357974;32938616;33141586;33298915;33537174;33968037;34171305;35051231;35580925;36010968;36241641", "class_list": "", "function": "Could be involved in the unfolded protein response (UPR) pathway., [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": 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": "A4D1Y8;Q9H6F9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030968 endoplasmic reticulum unfolded protein response;GO:0006986 response to unfolded protein", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9BSE4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15131-1", "uniprot_id": "CDK10_HUMAN", "mass": 41038.0, "length": 360, "protein_name": "Cyclin-dependent kinase 10", "gene_name": "CDK10", "organism": "Human", "refseq_name": "cyclin-dependent kinase 10 isoform c", "refseq_ac": "NP_001092003", "gene_names_uniprotkb": "CDK10", "gene_names_refseq": "ALSAS; CDK10; PISSLRE", "protein_names_uniprotkb": "Cyclin-dependent kinase 10; 2.7.11.22; Cell division protein kinase 10; Serine/threonine-protein kinase PISSLRE", "protein_names_refseq": "CDC2-related protein kinase; cell division protein kinase 10; cyclin-dependent kinase (CDC2-like) 10; cyclin-dependent kinase 10 isoform c; cyclin-dependent kinase related protein; serine/threonine protein kinase PISSLRE", "tax_id": 9606, "disease": "Al Kaissi syndrome (Disease Ontology:DOID:0070738)", "pathway": " (hsa:8558)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "10036189;11237011;17344846;18669648;18691976;20068231;24218572;24366607;25418920;27104747;28886341;29393594;29557506;29632046;31844290;32157095;32357974;32897882;32938616;32983136;33141586;33298915;33691108;33912179;33936100;33968037;34171305;34211107;34405274;35051231;35494241;36010968;36241641;36988771;37737453;38376606;39894887;8084611;8208557", "class_list": "", "function": "CDK10 suppresses metastasis of lung adenocarcinoma through inhibition of the ETS2/c-Raf/p-MEK/p-ERK signaling loop., [RefSeq, PubMed]; CDK10, CDK11, FOXO1, and FOXO3 Gene Expression in Alzheimer's Disease Encephalic Samples., [RefSeq, PubMed]; Cyclin-dependent kinase that phosphorylates the transcription factor ETS2 (in vitro) and positively controls its proteasomal degradation (in cells) (PubMed:24218572). Involved in the regulation of actin cytoskeleton organization through the phosphorylation of actin dynamics regulators such as PKN2. Is a negative regulator of ciliogenesis through phosphorylation of PKN2 and promotion of RhoA signaling (PubMed:27104747)., [UniProtKB, PubMed, PubMed]; RNF115 aggravates tumor progression through regulation of CDK10 degradation in thyroid carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the CDK subfamily of the Ser/Thr protein kinase family. The CDK subfamily members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and are known to be essential for cell cycle progression. This kinase has been shown to play a role in cellular proliferation and its function is limited to cell cycle G2-M phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 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": 2, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K370;A8K8I6;A8MXU6;B3KQJ3;B7Z420;D3DX82;D3DX83;Q0VGZ7;Q15130;Q6PJC0", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0004693 cyclin-dependent protein serine/threonine kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0036064 ciliary basal body", "go_biological_process": "GO:1902018 negative regulation of cilium assembly;GO:0008285 negative regulation of cell population proliferation;GO:0032956 regulation of actin cytoskeleton organization;GO:0000086 G2/M transition of mitotic cell cycle;GO:0018107 peptidyl-threonine phosphorylation", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q15131-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q12816-1", "uniprot_id": "TROP_HUMAN", "mass": 143716.0, "length": 1431, "protein_name": "Trophinin", "gene_name": "TRO", "organism": "Human", "refseq_name": "trophinin isoform 5", "refseq_ac": "NP_001034794", "gene_names_uniprotkb": "TRO; KIAA1114; MAGED3", "gene_names_refseq": "MAGE-d3; MAGED3; TRO", "protein_names_uniprotkb": "Trophinin; MAGE-D3 antigen", "protein_names_refseq": "MAGE superfamily protein; MAGE-D3 antigen; magphinin; melanoma antigen, family D, 3; trophinin isoform 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:7216)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;17559068;22201876;23092983;25645385;26992070;27035766;27600516;28834231;30429286;31154438;31844290;31848261;31998317;32157095;32387766;32488085;32938616;33392160;33592498;33968037;34019948;34509645;34725712;35051231;35580925;36010968;36284347;37217939;38665916;40307207;7758945", "class_list": "", "function": "Could be involved with bystin and tastin in a cell adhesion molecule complex that mediates an initial attachment of the blastocyst to uterine epithelial cells at the time of the embryo implantation. Directly responsible for homophilic cell adhesion., [UniProtKB]; Expression of trophinin and dipeptidyl peptidase IV in endometrial co-culture in the presence of an embryo: A comparative immunocytochemical study., [RefSeq, PubMed]; Report dual roles for trophinin in human cancers in terms of promoting malignancy in some tumor types and suppressing it in others Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a membrane protein that mediates cell adhesion between trophoblastic cells and the epithelial cells of the endometrium. The encoded protein participates in cell signalling during embryo implantation, and may also be involved in cancer formation. This gene is located near several other closely related genes on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]., [RefSeq]; When magphinin-gamma was expressed in NIH3T3 cells, cells underwent G1 arrest. These results suggest that human magphinin-gamma inhibits cell cycle progression through nuclear activity. GeneRIF: Confocal microscopy analysis of ectopically expressed magphinins revealed that magphinin-alpha and -beta localize in the cytoplasm, whereas magphinin-gamma lacking the peptide encoded by exon-3 is nuclear., [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": 49, "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": "B1AKE9;B1AKF1;F5GY27;Q96SX2;Q9NU89;Q9UPN8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005886 plasma membrane", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0007566 embryo implantation", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q12816-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75976-1", "uniprot_id": "CBPD_HUMAN", "mass": 152931.0, "length": 1380, "protein_name": "Carboxypeptidase D", "gene_name": "CPD", "organism": "Human", "refseq_name": "carboxypeptidase D isoform 2", "refseq_ac": "NP_001186704", "gene_names_uniprotkb": "CPD", "gene_names_refseq": "CPD; GP180", "protein_names_uniprotkb": "Carboxypeptidase D; 3.4.17.22; Metallocarboxypeptidase D; gp180", "protein_names_refseq": "carboxypeptidase D isoform 2; metallocarboxypeptidase D", "tax_id": 9606, "disease": "rheumatic heart disease (Disease Ontology:DOID:0050827); atrial fibrillation (Disease Ontology:DOID:0060224); myeloid neoplasm (Disease Ontology:DOID:0070004); platelet-type bleeding disorder 10 (Disease Ontology:DOID:0111046); dermatomyositis (Disease Ontology:DOID:10223); silicosis (Disease Ontology:DOID:10325); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); thrombotic thrombocytopenic purpura (Disease Ontology:DOID:10772); sickle cell anemia (Disease Ontology:DOID:10923); polycystic ovary syndrome (Disease Ontology:DOID:11612); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); granulomatosis with polyangiitis (Disease Ontology:DOID:12132); malaria (Disease Ontology:DOID:12365); hemolytic-uremic syndrome (Disease Ontology:DOID:12554); atherosclerosis (Disease Ontology:DOID:1936); blood platelet disease (Disease Ontology:DOID:2218); essential thrombocythemia (Disease Ontology:DOID:2224); arteriosclerosis (Disease Ontology:DOID:2349); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); nephrosis (Disease Ontology:DOID:2527); endometriosis (Disease Ontology:DOID:289); pulmonary tuberculosis (Disease Ontology:DOID:2957); inclusion body myositis (Disease Ontology:DOID:3429); pulmonary fibrosis (Disease Ontology:DOID:3770); macular degeneration (Disease Ontology:DOID:4448); liver cirrhosis (Disease Ontology:DOID:5082); myocardial infarction (Disease Ontology:DOID:5844); osteoarthritis (Disease Ontology:DOID:8398); chronic myeloid leukemia (Disease Ontology:DOID:8552); polycythemia vera (Disease Ontology:DOID:8997); pemphigus (Disease Ontology:DOID:9182); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1362); (R-HSA-432722); (R-HSA-9696264); (R-HSA-9696273)", "pathway_count": 4, "publication_count": 132, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10394364;10664463;11237011;11590181;11604418;11694590;11784792;11940653;11994746;12643288;12754519;12842009;15102850;15738000;16155256;17116749;18083107;18507432;18669648;18996843;19103606;19159218;19651622;19690332;20068231;20811643;21406692;22299025;22424782;23090970;23186163;23481700;23584533;24190977;24366607;24433040;24615730;24690281;24715725;25294878;25418920;25502872;25505266;25645385;25813380;26154972;26375851;26969432;26992070;27090790;27452731;27494742;27600516;28218747;28228285;28364216;28467828;28514659;28649982;28832583;28904123;29131831;29242379;29314611;29317506;29351928;29437277;29557506;29632711;29741879;30315122;30459171;30484775;30573663;30626607;31020640;31092671;31530632;31844290;31871319;32157095;32161166;32162841;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33141586;33298915;33392160;33592498;33912179;33936100;33968037;34078123;34211107;34357683;34433824;34509645;34561969;34932366;35051231;35154160;35251023;35289036;35561310;35705054;36010968;36215666;36241641;37074911;37340703;38253038;38665916;40307207;40664211;8374173;8524399;8649376;8670264;9064476;9355738;9531558;9714835", "class_list": "", "function": "(Microbial infection) Acts as an alternative entry receptor for adeno-associated virus (AAV)., [UniProtKB, PubMed]; CPD immunostaining and testosterone/prolactin-stimulated CPD expression were higher in prostate cancer than benign tissues/cells. Elevated CPD increased NO production, which was abolished when both androgen and prolactin receptors were inhibited., [RefSeq, PubMed]; Carboxypeptidase-D (CPD) overexpression coincides with high-grade lung cancer and the CPD overexpression could reverse the inhibitory effects of miR-214, [RefSeq, PubMed]; Functions in the processing of proteins and peptides in the secretory pathway. Mechanistically, cleaves exclusively C-terminal basic residues. By removing terminal residues, can modulate the activity, stability, and receptor-binding properties of bioactive peptides., [UniProtKB, PubMed]; Prolactin and R1881, acting through Stat5 and androgen receptor, act cooperatively to stimulate CPD gene transcription in breast cancer cells., [RefSeq, PubMed]; Prolactin induction of VEGF-C and Runx2 was inhibited partly by Carboxypeptidase-D inhibitors, implicating nitric oxide , produced by PRL-regulated Carboxypeptidase-D, in breast cancer progression, [RefSeq, PubMed]; The human carboxypeptidase D transthyretin-like domain forms amyloid under physiological conditions., [RefSeq, PubMed]; The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory B-type carboxypeptidase subfamilies. Carboxypeptidase D has been identified as a regulatory B-type carboxypeptidase. CPD is a homolog of duck gp180, a hepatitis B virus-binding protein. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [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": 18, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 11, "reported_o_glycosites_with_glycan": 20, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 18, "total_reported_o_glycosites": 20, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 18, "total_o_glycosites": 20, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 9, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 74, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 85, "disease_count": 34, "glyco_site_count": 41, "binding_glycan_count": 0, "secondary_ac_list": "B7Z7T9;B7ZAU4;F5GZH6;O15377;Q86SH9;Q86XE6", "ec_number_list": "2.7.1.153;2.7.1.137;2.7.1.154;2.7.11.1;3.1.3.-;3.4.17.22;3.6.4.10;2.7.3.2;2.7.10.1;3.6.5.5;3.6.5.2;1.2.1.3;1.2.1.94;3.1.3.86;3.1.3.56;3.1.3.36;3.1.3.48;2.7.11.39;3.6.4.13", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004185 serine-type carboxypeptidase activity;GO:0004181 metallocarboxypeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0016485 protein processing;GO:0006518 peptide metabolic process;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 25.6, "record_id": "O75976-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q93009-1", "uniprot_id": "UBP7_HUMAN", "mass": 128302.0, "length": 1102, "protein_name": "Ubiquitin C-terminal hydrolase 7", "gene_name": "USP7", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 7 isoform 4", "refseq_ac": "NP_001308787", "gene_names_uniprotkb": "USP7; HAUSP", "gene_names_refseq": "C16DELp13.2; DEL16P13.2; HAFOUS; HAUSP; TEF1; USP7", "protein_names_uniprotkb": "Ubiquitin C-terminal hydrolase 7; 3.4.19.12; Deubiquitinating enzyme 7; Herpesvirus-associated ubiquitin-specific protease; Ubiquitin thioesterase 7; Ubiquitin-specific-processing protease 7", "protein_names_refseq": "Chromosome 16p13.2 deletion syndrome; Herpes virus-associated ubiquitin-specific protease; deubiquitinating enzyme 7; ubiquitin carboxyl-terminal hydrolase 7 isoform 4; ubiquitin carboxyl-terminal hydrolase 7; ubiquitin specific peptidase 7 (herpes virus-associated); ubiquitin specific protease 7 (herpes virus-associated); ubiquitin thioesterase 7; ubiquitin-specific-processing protease 7", "tax_id": 9606, "disease": "Hao-Fountain syndrome due to USP7 mutation (MONDO:MONDO:0958071)", "pathway": " (hsa:7874); (R-HSA-5689880); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6804757); (R-HSA-8866652); (R-HSA-8948747)", "pathway_count": 9, "publication_count": 306, "publication_id_list": "10.1101/2023.09.13.557529;10444327;10608892;10722742;10944529;10980695;10980696;10982817;11237011;11359766;11504915;11566882;11904382;11923872;11983168;12093161;12208738;12507430;12660172;12732143;12917689;12917691;14506283;14507994;14517266;14661020;15053880;15302935;1535557;15590680;15788536;15808506;15916963;16142244;1614537;16160161;16163388;16214042;16246722;16402859;16474402;16751180;16845383;16901786;16964248;17000769;17121812;17218261;17290000;17290220;17443180;17466625;17466626;17580310;17597759;17651432;17681183;17873522;17948053;17980597;17981138;17981804;18079701;18172164;18199536;18327259;18353650;18452278;18467330;18566590;18590780;18614043;18632802;18636086;18669648;18707149;18716620;19015242;19135894;19188362;19279666;19363159;19398555;19413330;19415658;19424180;19473982;19487573;19608861;19651622;19664995;19756449;19816404;19838211;19874889;19910467;19940136;20058876;20068231;20080666;20096447;20153724;20166139;20223231;20227374;20228808;20230923;20368735;20388916;20438709;20501646;20541997;20601937;20713061;20719947;21070792;21170034;21239494;21258371;21282463;21362556;21406692;21571647;21596315;21659512;21730132;21730163;21745816;21849505;21962518;21986495;22000013;22029577;22072767;22081108;22085928;22118460;22128162;22216260;22361354;22374676;22411829;22466610;22466611;22466612;22544926;22689415;22863774;22869377;22898188;22902626;23159851;23186163;23301498;23395819;23486064;23824326;23825189;23856247;23906714;23973222;23973375;24056413;24127601;24216761;24260525;24275569;24402227;24493797;24714562;24715725;24896179;25114211;25154395;25197364;25266658;25283148;25305019;25367160;25435140;25576301;25578727;25645385;25865756;25880248;25944111;26030138;26154972;26235645;26238070;26365382;26375851;26678539;26728094;26758079;26786098;26992070;27123980;27543614;27600516;27846572;27920218;28218747;28228285;28418900;28514659;28649982;28655758;28832583;28834231;28855257;28904123;29242379;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30397120;30410026;30429286;30484775;30524438;30679821;30779550;31217245;31540894;31844290;32119511;32157095;32355176;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33544460;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34509645;34561969;34725712;34932366;35051231;35083852;35216969;35254053;35318648;35580925;36010968;36215666;36241641;36284347;37217939;37938771;38665916;38752725;39128723;40307207;40596516;40914422;6277905;6305978;7578059;7686617;7700386;7784084;7851534;7957050;8010951;8078911;8319905;8479525;8876179;8887688;8954786;9034339;9326587;9521656;9699634;9716411;9875289", "class_list": "", "function": "(Microbial infection) Contributes to the overall stabilization and trans-activation capability of the herpesvirus 1 trans-acting transcriptional protein ICP0/VMW110 during HSV-1 infection., [UniProtKB, PubMed, PubMed, PubMed]; (Microbial infection) Upon infection with Epstein-Barr virus, the interaction with viral EBNA1 increases the association of USP7 with PML proteins, which is required for the polyubiquitylation and degradation of PML., [UniProtKB, PubMed, PubMed]; Biologically significant interaction of human herpesvirus 8 viral interferon regulatory factor 4 with ubiquitin-specific protease 7., [RefSeq, PubMed]; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes., [UniProtKB, UniProtKB, UniProtKB]; Hydrolase that deubiquitinates target proteins such as ARMC5, FOXO4, DEPTOR, KAT5, p53/TP53, MDM2, ERCC6, DNMT1, UHRF1, PTEN, KMT2E/MLL5 and DAXX (PubMed:11923872, PubMed:15053880, PubMed:16964248, PubMed:18716620, PubMed:25283148, PubMed:25865756, PubMed:26678539, PubMed:28655758, PubMed:33544460, PubMed:35216969). Together with DAXX, prevents MDM2 self-ubiquitination and enhances the E3 ligase activity of MDM2 towards p53/TP53, thereby promoting p53/TP53 ubiquitination and proteasomal degradation (PubMed:15053880, PubMed:16845383, PubMed:18566590, PubMed:20153724). Deubiquitinates p53/TP53, preventing degradation of p53/TP53, and enhances p53/TP53-dependent transcription regulation, cell growth repression and apoptosis (PubMed:25283148). Deubiquitinates p53/TP53 and MDM2 and strongly stabilizes p53/TP53 even in the presence of excess MDM2, and also induces p53/TP53-dependent cell growth repression and apoptosis (PubMed:11923872, PubMed:26786098). Deubiquitination of FOXO4 in presence of hydrogen peroxide is not dependent on p53/TP53 and inhibits FOXO4-induced transcriptional activity (PubMed:16964248). In association with DAXX, is involved in the deubiquitination and translocation of PTEN from the nucleus to the cytoplasm, both processes that are counteracted by PML (PubMed:18716620). Deubiquitinates KMT2E/MLL5 preventing KMT2E/MLL5 proteasomal-mediated degradation (PubMed:26678539). Involved in cell proliferation during early embryonic development. Involved in transcription-coupled nucleotide excision repair (TC-NER) in response to UV damage: recruited to DNA damage sites following interaction with KIAA1530/UVSSA and promotes deubiquitination of ERCC6, preventing UV-induced degradation of ERCC6 (PubMed:22466611, PubMed:22466612). Involved in maintenance of DNA methylation via its interaction with UHRF1 and DNMT1: acts by mediating deubiquitination of UHRF1 and DNMT1, preventing their degradation and promoting DNA methylation by DNMT1 (PubMed:21745816, PubMed:22411829). Deubiquitinates alkylation repair enzyme ALKBH3. OTUD4 recruits USP7 and USP9X to stabilize ALKBH3, thereby promoting the repair of alkylated DNA lesions (PubMed:25944111). Acts as a chromatin regulator via its association with the Polycomb group (PcG) multiprotein PRC1-like complex; may act by deubiquitinating components of the PRC1-like complex (PubMed:20601937). Able to mediate deubiquitination of histone H2B; it is however unsure whether this activity takes place in vivo (PubMed:20601937). Exhibits a preference towards 'Lys-48'-linked ubiquitin chains (PubMed:22689415). Increases regulatory T-cells (Treg) suppressive capacity by deubiquitinating and stabilizing the transcription factor FOXP3 which is crucial for Treg cell function (PubMed:23973222). Plays a role in the maintenance of the circadian clock periodicity via deubiquitination and stabilization of the CRY1 and CRY2 proteins (PubMed:27123980). Deubiquitinates REST, thereby stabilizing REST and promoting the maintenance of neural progenitor cells (PubMed:21258371). Deubiquitinates SIRT7, inhibiting SIRT7 histone deacetylase activity and regulating gluconeogenesis (PubMed:28655758). Involved in the regulation of WASH-dependent actin polymerization at the surface of endosomes and the regulation of endosomal protein recycling (PubMed:26365382). It maintains optimal WASH complex activity and precise F-actin levels via deubiquitination of TRIM27 and WASHC1 (PubMed:26365382). Mediates the deubiquitination of phosphorylated DEPTOR, promoting its stability and leading to decreased mTORC1 signaling (PubMed:35216969). Deubiquitinates H2AB1, H2BC4 and H2BC22 (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The USP7 deubiquitinating enzyme is an integral component of the MAGE-L2-TRIM27 ligase and is essential for WASH-mediated endosomal actin assembly and protein recycling., [RefSeq, PubMed]; The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016]., [RefSeq]; USP7 deubiquitinates epigenetic reader ZMYND8 to promote breast cancer cell migration 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": 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": 3, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6NMY8;B7Z815;H0Y3G8", "ec_number_list": "3.6.4.13;3.4.19.12;5.6.2.3;6.5.1.1;5.6.2.4;3.1.13.-;2.7.7.48;2.7.7.6;2.7.7.7;3.1.11.-;3.1.-.-;2.3.2.-;2.7.11.22;2.7.11.23;2.7.11.24;3.1.3.67;3.1.3.-;3.1.3.16;3.1.3.48;2.3.2.27;2.3.2.32;3.6.4.-;5.2.1.8", "go_molecular_function": "GO:0002039 p53 binding;GO:0004197 cysteine-type endopeptidase activity;GO:0004843 cysteine-type deubiquitinase activity;GO:1990380 K48-linked deubiquitinase activity;GO:0101005 deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016604 nuclear body;GO:0016605 PML body", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0006307 DNA alkylation repair;GO:1901796 regulation of signal transduction by p53 class mediator;GO:0050821 protein stabilization", "synthesized_glycan_count": 0, "hit_score": 31.3, "record_id": "Q93009-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99766-1", "uniprot_id": "ATP5S_HUMAN", "mass": 23226.0, "length": 200, "protein_name": "ATP synthase subunit s, mitochondrial", "gene_name": "DMAC2L", "organism": "Human", "refseq_name": "ATP synthase subunit s, mitochondrial isoform a precursor", "refseq_ac": "NP_001003803", "gene_names_uniprotkb": "DMAC2L; ATP5S; ATPW", "gene_names_refseq": "ATP5S; ATPW; DMAC2L; FB; HSU79253", "protein_names_uniprotkb": "ATP synthase subunit s, mitochondrial; ATP synthase-coupling factor B; Distal membrane arm assembly complex 2-like protein; FB; Mitochondrial ATP synthase regulatory component factor B", "protein_names_refseq": "ATP synthase coupling factor B, mitochondrial; ATP synthase coupling factor B-like 1; ATP synthase subunit s, mitochondrial isoform a precursor; ATP synthase subunit s, mitochondrial; ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B); ATP synthase, H+ transporting, mitochondrial Fo complex subunit s (factor B); ATP synthase-coupling factor B; distal membrane arm assembly complex 2 like; distal membrane arm assembly complex 2-like protein; mitochondrial ATP synthase regulatory component factor B", "tax_id": 9606, "disease": "", "pathway": " (hsa:27109); (R-HSA-163210); (R-HSA-8949613)", "pathway_count": 3, "publication_count": 31, "publication_id_list": "11237011;11744738;17121862;17510655;17624330;18323778;20833715;20877624;21836051;22114354;22252321;22864911;23481700;24098383;24687277;25285856;25764979;25781180;25997101;26385595;26416881;26477565;26530328;26968360;27479602;27485409;27623147;28832583;28834231;29242379;4517936", "class_list": "", "function": "Involved in regulation of mitochondrial membrane ATP synthase. Necessary for H(+) conduction of ATP synthase. Facilitates energy-driven catalysis of ATP synthesis by blocking a proton leak through an alternative proton exit pathway., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The study is the first to show that ATP5S is one of the target genes of miR-34a., [RefSeq, PubMed]; This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. 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": 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": "A0A2R8YDJ1;A0A5K1VW60;A8K1U3;D9N156;Q8WWX3;Q96F77", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0015078 proton transmembrane transporter activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045259 proton-transporting ATP synthase complex", "go_biological_process": "GO:0006754 ATP biosynthetic process;GO:1902600 proton transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q99766-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7LG56-1", "uniprot_id": "RIR2B_HUMAN", "mass": 40737.0, "length": 351, "protein_name": "Ribonucleoside-diphosphate reductase subunit M2 B", "gene_name": "RRM2B", "organism": "Human", "refseq_name": "ribonucleoside-diphosphate reductase subunit M2 B isoform 2", "refseq_ac": "NP_001165948", "gene_names_uniprotkb": "RRM2B; P53R2", "gene_names_refseq": "MTDPS8A; MTDPS8B; P53R2; RCDFRD; RRM2B", "protein_names_uniprotkb": "Ribonucleoside-diphosphate reductase subunit M2 B; 1.17.4.1; TP53-inducible ribonucleotide reductase M2 B; p53-inducible ribonucleotide reductase small subunit 2-like protein; p53R2", "protein_names_refseq": "TP53-inducible ribonucleotide reductase M2 B; p53-inducible ribonucleotide reductase small subunit 2 homolog; p53-inducible ribonucleotide reductase small subunit 2 short form beta; p53-inducible ribonucleotide reductase small subunit 2-like protein; ribonucleoside-diphosphate reductase subunit M2 B isoform 2; ribonucleoside-diphosphate reductase subunit M2 B; ribonucleotide reductase M2 B (TP53 inducible)", "tax_id": 9606, "disease": "mitochondrial DNA depletion syndrome 8a (Disease Ontology:DOID:0080127); autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 (Disease Ontology:DOID:0111518); rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction (MONDO:MONDO:0010000)", "pathway": " (hsa:50484); (R-HSA-499943); (R-HSA-5628897)", "pathway_count": 3, "publication_count": 182, "publication_id_list": "10215863;10329961;10453732;10618642;10716435;10745013;10799505;10884394;10899599;10980602;11029283;11034341;11237011;11277919;11278511;11340051;11486029;11517226;11545734;11719458;11796141;11912132;11959846;12161445;12203114;12438239;12453409;12615712;12714747;12869586;12906785;12972261;13211603;13298683;13538944;14583450;14651849;14729598;15105503;15223;15589136;15630091;16140933;16179339;16373698;16376858;16413492;16636147;16728594;16756507;16760263;16820675;16839880;17298220;17320107;17486094;17540029;177353;17824959;18198340;18344994;18469;18504129;1851158;18635542;18692468;18991276;18997010;19015526;19113821;19176520;19220460;19439913;19487573;19664747;19667227;19728742;19766732;19822145;20080666;20182617;20351271;20378837;21080915;211388;211390;21750704;21958598;22363791;22847445;23416111;23481700;23775793;24066844;24366874;24383451;24718924;25418920;2542324;25548167;25576301;25579166;25645385;25892735;26154972;26375851;2656695;26652033;2668278;26741492;26929215;26992070;27862975;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30524438;30779550;30833945;31154438;31844290;31848261;32157095;32357974;32488085;32502341;32827185;32897882;32938616;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34357683;34725712;35051231;35561310;35580925;36215666;36241641;36284347;36581221;37938771;37964013;39261410;40615;5484814;5666113;6182143;6248551;7685356;7851394;7979252;7989588;8119488;8448179;8663313;9488696;9677297;9926927", "class_list": "", "function": "A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions., [RefSeq, PubMed]; Identification of a new human senescent skin cell marker ribonucleoside-diphosphate reductase subunit M2 B., [RefSeq, PubMed]; Impact of N221S missense mutation in human ribonucleotide reductase small subunit b on mitochondrial DNA depletion syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Mutation of RRM2B is associated with mitochondrial Diseases, [RefSeq, PubMed]; Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical center required for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage., [UniProtKB, PubMed, PubMed, PubMed]; The X-ray crystal structure of human p53R2 is determined to 2.6 A, in which monomers A and B exhibit mono- and binuclear iron occupancy, respectively. Sequence-structure-function correlations that differentiate p53R2 and RRM2 are revealed., [RefSeq, PubMed]; This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]., [RefSeq]; This study expands the clinical spectrum of impaired RIR2B function., [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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4E2N4;Q17R22;Q75PQ6;Q75PQ7;Q75PY8;Q75PY9;Q86YE3;Q9NPD6;Q9NTD8;Q9NUW3", "ec_number_list": "1.17.4.1", "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0004748 ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0006281 DNA repair;GO:0010971 positive regulation of G2/M transition of mitotic cell cycle;GO:0014075 response to amine;GO:0009263 deoxyribonucleotide biosynthetic process;GO:0070318 positive regulation of G0 to G1 transition", "synthesized_glycan_count": 0, "hit_score": 18.5, "record_id": "Q7LG56-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P62714-1", "uniprot_id": "PP2AB_HUMAN", "mass": 35575.0, "length": 309, "protein_name": "Serine/threonine-protein phosphatase 2A catalytic subunit beta isoform", "gene_name": "PPP2CB", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 2A catalytic subunit beta isoform", "refseq_ac": "NP_001009552", "gene_names_uniprotkb": "PPP2CB", "gene_names_refseq": "PP2Abeta; PP2CB; PPP2CB", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 2A catalytic subunit beta isoform; 3.1.3.16; PP2A-beta", "protein_names_refseq": "PP2A-beta; protein phosphatase 2, catalytic subunit, beta isozyme; protein phosphatase type 2A catalytic subunit; serine/threonine-protein phosphatase 2A catalytic subunit beta isoform; testicular tissue protein Li 146", "tax_id": 9606, "disease": "", "pathway": " (hsa:5516); (R-HSA-113501); (R-HSA-1295596); (R-HSA-141430); (R-HSA-141444); (R-HSA-163767); (R-HSA-180024); (R-HSA-195253); (R-HSA-196299); (R-HSA-198753); (R-HSA-202670); (R-HSA-2465910); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-389356); (R-HSA-389513); (R-HSA-432142); (R-HSA-4641262); (R-HSA-5339716); (R-HSA-5358747); (R-HSA-5358749); (R-HSA-5358751); (R-HSA-5358752); (R-HSA-5467337); (R-HSA-5467340); (R-HSA-5467348); (R-HSA-5663220); (R-HSA-5673000); (R-HSA-5675221); (R-HSA-6804757); (R-HSA-6811558); (R-HSA-68877); (R-HSA-69231); (R-HSA-69273); (R-HSA-9634600); (R-HSA-9648025); (R-HSA-9833482)", "pathway_count": 37, "publication_count": 657, "publication_id_list": 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"class_list": "", "function": "Catalytic subunit of protein phosphatase 2A (PP2A), a serine/threonine phosphatase involved in the regulation of a wide variety of enzymes, signal transduction pathways, and cellular events (Probable). PP2A can modulate the activity of phosphorylase B kinase, casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase. Part of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation (PubMed:18782753)., [UniProtKB, PubMed, PubMed]; Protein phosphatase 2A and complement component 4 are linked to the protective effect of APOE varepsilon2 for Alzheimer's disease., [RefSeq, PubMed]; Protein phosphatase 2A in the healthy and failing heart: New insights and therapeutic opportunities. Review article, [RefSeq, PubMed]; This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes a beta isoform of the catalytic subunit. [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": 2, "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": "D3DSV4;P11082;Q6FHK5", "ec_number_list": "3.1.3.16;3.1.3.48;3.6.5.-;3.1.3.-;3.4.19.12;2.7.11.1;2.7.10.1;3.6.5.2;2.7.10.2;2.7.11.22;2.7.11.23;2.3.2.27;2.7.11.24;3.4.25.1;2.3.2.-;2.7.11.26;2.7.11.21;3.1.3.67;3.1.3.53;2.3.2.32;3.4.22.49;3.6.4.12;3.1.3.52;3.1.3.27;3.1.3.86;3.1.3.36;3.1.3.74;2.1.1.233;3.1.1.89", "go_molecular_function": "GO:0046872 metal ion binding;GO:0044325 transmembrane transporter binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0048156 tau protein binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000159 protein phosphatase type 2A complex;GO:0000775 chromosome, centromeric region", "go_biological_process": "GO:0046580 negative regulation of Ras protein signal transduction;GO:0000278 mitotic cell cycle;GO:0010288 response to lead ion;GO:0010629 negative regulation of gene expression;GO:0031113 regulation of microtubule polymerization", "synthesized_glycan_count": 0, "hit_score": 66.0, "record_id": "P62714-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14735-1", "uniprot_id": "CDIPT_HUMAN", "mass": 23539.0, "length": 213, "protein_name": "CDP-diacylglycerol--inositol 3-phosphatidyltransferase", "gene_name": "CDIPT", "organism": "Human", "refseq_name": "CDP-diacylglycerol--inositol 3-phosphatidyltransferase isoform 2", "refseq_ac": "NP_001273514", "gene_names_uniprotkb": "CDIPT; PIS1; PIS", "gene_names_refseq": "CDIPT; PIS1; PIS", "protein_names_uniprotkb": "CDP-diacylglycerol--inositol 3-phosphatidyltransferase; 2.7.8.11; PI synthase; Phosphatidylinositol synthase; PtdIns synthase", "protein_names_refseq": "CDP-diacylglycerol--inositol 3-phosphatidyltransferase isoform 2; PI synthase; PtdIns synthase; phosphatidylinositol synthase", "tax_id": 9606, "disease": "chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515); cancer (Disease Ontology:DOID:162); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:10423); (R-HSA-1483226)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10022914;11237011;16312203;17377520;19913121;20426864;20628086;24714562;25887399;26028218;26154972;27846572;28514659;28832583;28834231;28904123;29242379;29557506;29632711;30315122;30429286;31154438;31530632;31844290;31848261;32157095;32502341;32938616;33141586;34171305;34357683;35051231;36010968;3718705;8110188;9407135", "class_list": "", "function": "AAT Deficiency affects at least 120.5 million carriers and deficient subjects worldwide for the two most prevalent deficiency alleles PIZ., [RefSeq, PubMed]; Catalyzes the biosynthesis of phosphatidylinositol (PtdIns) as well as PtdIns:inositol exchange reaction. May thus act to reduce an excessive cellular PtdIns content. The exchange activity is due to the reverse reaction of PtdIns synthase and is dependent on CMP, which is tightly bound to the enzyme., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Increased CDIPT expression was found to be an early event in oral cancer and a target for smokeless tobacco. Publication Status: Online-Only, [RefSeq, 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]; Phosphatidylinositol breakdown products are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. Two enzymes, CDP-diacylglycerol synthase and phosphatidylinositol synthase, are involved in the biosynthesis of phosphatidylinositol. Phosphatidylinositol synthase, a member of the CDP-alcohol phosphatidyl transferase class-I family, is an integral membrane protein found on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 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": 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": "B4DUV0;H3BTV1;Q6FGU1;Q6ZN70", "ec_number_list": "2.7.8.11", "go_molecular_function": "GO:0030145 manganese ion binding;GO:0030246 carbohydrate binding;GO:0003881 CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity;GO:0019992 diacylglycerol binding;GO:0043178 alcohol binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006661 phosphatidylinositol biosynthetic process;GO:0046341 CDP-diacylglycerol metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "O14735-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13123-1", "uniprot_id": "RED_HUMAN", "mass": 65602.0, "length": 557, "protein_name": "Protein Red", "gene_name": "IK", "organism": "Human", "refseq_name": "protein Red", "refseq_ac": "NP_006074", "gene_names_uniprotkb": "IK; RED; RER", "gene_names_refseq": "CSA2; IK; RED; RER", "protein_names_uniprotkb": "Protein Red; Cytokine IK; IK factor; Protein RER", "protein_names_refseq": "IK cytokine, down-regulator of HLA II; IK factor; RD element; chondrosarcoma-associated protein 2; cytokine IK; prer protein; protein Red", "tax_id": 9606, "disease": "", "pathway": " (hsa:3550); (R-HSA-72163)", "pathway_count": 2, "publication_count": 175, "publication_id_list": "10216252;10882114;11014198;11101529;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16809785;17095540;17332742;17525332;17606899;18077418;18322460;18452278;18593880;18669648;18991276;19103666;19165350;19413330;19536130;19608861;20068231;20423332;20980672;21536652;2176635;22110043;22351768;22365833;22959432;22961380;23186163;23222130;23236153;23301498;23345524;23481700;24196718;24252166;24304693;24448447;24714562;24715725;24737827;24914973;24945353;25218447;25418920;25555158;25576301;2558966;25645385;25880248;25892735;26154972;26375851;26385511;26420826;26728094;26811146;26929215;26969736;26992070;27377154;27459055;27683217;27846572;27862975;27920218;28062851;28063628;28076346;28228285;28502770;28781166;28832583;28834231;28855257;28904123;29242379;29301961;29360106;29361316;29393594;29493099;29508533;29557506;29632046;29632711;2963332;29769354;29786170;30315122;30315277;30429286;30484775;30705154;30728453;30765414;30779550;30833945;30975767;31154438;31217245;31222486;31373491;31409651;31530632;31844290;31848261;31998317;32157095;32179686;32265295;32329775;32357974;32387766;32488085;32494006;32502341;32897882;32938616;32983136;33043033;33109704;33214551;33243851;33298915;33446560;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34229054;34250629;34301950;34509645;34561969;34822310;34932366;35051231;35318648;35385551;35580925;36010968;36241641;36284347;3757028;37938771;7970704;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "(Microbial infection) Required, together with SMU1, for normal splicing of influenza A virus NS1 pre-mRNA, which is required for the production of the exportin NS2 and for the production of influenza A virus particles. Not required for the production of VSV virus particles., [UniProtKB, PubMed]; IK: A novel cell mitosis regulator that contributes to carcinogenesis. Review article, [RefSeq, PubMed]; Involved in pre-mRNA splicing as a component of the spliceosome (PubMed:28781166). Auxiliary spliceosomal protein that regulates selection of alternative splice sites in a small set of target pre-mRNA species (Probable). Required for normal mitotic cell cycle progression (PubMed:22351768, PubMed:24252166). Recruits MAD1L1 and MAD2L1 to kinetochores, and is required to trigger the spindle assembly checkpoint (PubMed:22351768). Required for normal accumulation of SMU1 (PubMed:24945353)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene was identified by its RED repeat, a stretch of repeated arginine, glutamic acid and aspartic acid residues. The protein localizes to discrete dots within the nucleus, excluding the nucleolus. Its function is unknown. This gene maps to chromosome 5; however, a pseudogene may exist on chromosome 2. [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": 11, "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": "Q6IPD8", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005694 chromosome", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0007094 mitotic spindle assembly checkpoint signaling;GO:0000398 mRNA splicing, via spliceosome;GO:0034501 protein localization to kinetochore", "synthesized_glycan_count": 0, "hit_score": 18.0, "record_id": "Q13123-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01033-1", "uniprot_id": "TIMP1_HUMAN", "mass": 23171.0, "length": 207, "protein_name": "Metalloproteinase inhibitor 1", "gene_name": "TIMP1", "organism": "Human", "refseq_name": "metalloproteinase inhibitor 1 precursor", "refseq_ac": "NP_003245", "gene_names_uniprotkb": "TIMP1; CLGI; TIMP", "gene_names_refseq": "CLGI; EPA; EPO; HCI; TIMP-1; TIMP1; TIMP", "protein_names_uniprotkb": "Metalloproteinase inhibitor 1; Collagenase inhibitor; EPA; Erythroid-potentiating activity; Fibroblast collagenase inhibitor; TIMP-1; Tissue inhibitor of metalloproteinases 1", "protein_names_refseq": "epididymis secretory sperm binding protein; erythroid potentiating activity; fibroblast collagenase inhibitor; metalloproteinase inhibitor 1 precursor; metalloproteinase inhibitor 1; tissue inhibitor of metalloproteinases 1", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); congenital anomalies of the kidney and urinary tract 2 (Disease Ontology:DOID:0080207); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); adrenoleukodystrophy (Disease Ontology:DOID:10588); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); gastric ulcer (Disease Ontology:DOID:10808); intracranial aneurysm (Disease Ontology:DOID:10941); heart disease (Disease Ontology:DOID:114); Kawasaki disease (Disease Ontology:DOID:13378); cholestasis (Disease Ontology:DOID:13580); thoracic aortic aneurysm (Disease Ontology:DOID:14004); Down syndrome (Disease Ontology:DOID:14250); cystic fibrosis (Disease Ontology:DOID:1485); breast cancer (Disease Ontology:DOID:1612); vascular disease (Disease Ontology:DOID:178); preretinal fibrosis (Disease Ontology:DOID:2006); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); ovarian cancer (Disease Ontology:DOID:2394); transitional cell carcinoma (Disease Ontology:DOID:2671); endometrial carcinoma (Disease Ontology:DOID:2871); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); pulmonary fibrosis (Disease Ontology:DOID:3770); renal cell carcinoma (Disease Ontology:DOID:4450); congestive heart failure (Disease Ontology:DOID:6000); degenerative disc disease (Disease Ontology:DOID:90); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:7076); (R-HSA-114608); (R-HSA-1592389); (R-HSA-381426); (R-HSA-6783783); (R-HSA-6785807); (R-HSA-8957275); (R-HSA-9839383)", "pathway_count": 8, "publication_count": 340, "publication_id_list": "10.1101/2023.09.13.557529;10023775;10026136;10077652;10092818;10218588;10219247;10369418;10415057;10433356;10510379;10512690;10586089;10614670;10623524;10681634;10810289;10867011;10898936;10912521;10951195;10990447;11058569;11084045;11104795;11120780;11158056;11237011;11250653;11264294;11278437;11278729;11316783;11356008;11404481;11463377;11522292;11606061;11739083;11751371;11782012;11788658;11830519;11960372;12223527;12241545;12242343;12379487;12466191;12554859;12600988;12626585;12810533;12832402;12834347;12904166;1311314;1370451;1371271;1383255;1390635;1420137;1435334;1460289;14630798;14634100;14712222;1480033;15116091;15126567;15261459;15297306;15308688;15340161;15469690;15485880;15525596;15584925;15642270;15805299;15869882;15919823;15950906;16007214;16048438;16107692;16205632;16236134;16263699;16335952;16397018;16451196;16510571;1653055;16540365;16606674;16740002;16917503;16982608;17047378;17050530;17249697;1730286;17312271;17427945;17458857;17572495;1783204;17985932;18243101;18353781;18447642;18644974;19124156;19139490;19185846;19397496;1940369;1940799;20145033;20493732;20545310;21081667;21102457;21252155;2159879;2163605;21689689;2169257;2171551;21730069;2176865;21937440;21994466;22046235;22205702;22299025;22383755;22427646;2269296;22693070;22851691;22905912;23086340;23090970;23124025;23172665;23455323;23481700;23522389;23555662;23640497;2383557;23967200;23982756;24097101;24190977;24635319;24715725;24743777;2476804;2479552;25234944;25418920;2546891;25502872;2551898;2557753;26091039;26154972;26791533;26811146;26992070;27397612;27846572;27920218;28063628;28218747;28228285;28467828;28514659;28832583;28904123;29242379;29317506;29437277;29508533;29557506;29632046;29741879;29789417;3010309;30237853;30315122;3058116;31154438;31611695;31844290;31848261;31998317;32125861;32157095;32265295;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33123756;33141586;33298915;33392160;33592498;33912179;33936100;33968037;34171305;34357683;34509645;34932366;35051231;35154160;35251023;35580925;36284347;37074911;37938771;3839290;38665916;38777826;3903517;39128817;39477311;4216367;6263256;6457647;7507419;7510216;7512027;7512451;7516408;7519608;7523391;7525263;7525634;7525824;7527330;7529288;7538844;7543116;7543512;7588299;7593617;7594602;7669817;7683646;7684412;7687627;7689487;7746327;7780967;7795521;7796300;7826345;7890645;7896811;7898939;7902377;7907877;7981201;8015608;8053566;8063757;8085155;8102388;8120391;8163946;8186324;8194591;8301137;8314771;8315383;8467233;8530478;8537680;8541540;8576151;8602263;8621565;8621622;8645182;8662928;8663118;8663255;8668165;8734788;8742066;8760827;8781553;8797861;8804434;8816495;8817670;8871669;8894645;8897595;8910398;8921438;8946277;8964575;9013879;9013939;9065415;9261109;9286280;9288970;9312047;9346290;9354687;9422744;9449724;9497324;9550426;9578462;9632662;9651359;9709957;9723655;9733769;9736340;9786878;9794440;9822675;9836587;9874564;9918218;9922210", "class_list": "glycogene", "function": "Contributions of Tissue Inhibitor of Metalloproteinase-1 Genotypes to the Risk of Metastasis in Gastric Cancer., [RefSeq, PubMed]; Metalloproteinase inhibitor that functions by forming one to one complexes with target metalloproteinases, such as collagenases, and irreversibly inactivates them by binding to their catalytic zinc cofactor. Acts on MMP1, MMP2, MMP3, MMP7, MMP8, MMP9, MMP10, MMP11, MMP12, MMP13 and MMP16. Does not act on MMP14. Also functions as a growth factor that regulates cell differentiation, migration and cell death and activates cellular signaling cascades via CD63 and ITGB1. Plays a role in integrin signaling. Mediates erythropoiesis in vitro; but, unlike IL3, it is species-specific, stimulating the growth and differentiation of only human and murine erythroid progenitors., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TIMP-1 is an activator of MHC-I expression in myeloid dendritic cells with implications for tumor immunogenicity., [RefSeq, PubMed]; TIMP1 promotes thyroid cancer cell progression through macrophage phenotypic polarization via the PI3K/AKT signaling pathway., [RefSeq, PubMed]; This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases (MMPs), a group of peptidases involved in degradation of the extracellular matrix. In addition to its inhibitory role against most of the known MMPs, the encoded protein is able to promote cell proliferation in a wide range of cell types, and may also have an anti-apoptotic function. Transcription of this gene is highly inducible in response to many cytokines and hormones. In addition, the expression from some but not all inactive X chromosomes suggests that this gene inactivation is polymorphic in human females. This gene is located within intron 6 of the synapsin I gene and is transcribed in the opposite direction. [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": 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": 1, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 166, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 136, "disease_count": 30, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q14252;Q9UCU1", "ec_number_list": "", "go_molecular_function": "GO:0002020 protease binding;GO:0008270 zinc ion binding;GO:0030414 peptidase inhibitor activity;GO:0005125 cytokine activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0031093 platelet alpha granule lumen", "go_biological_process": "GO:0051045 negative regulation of membrane protein ectodomain proteolysis;GO:1905049 negative regulation of metallopeptidase activity;GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0043086 negative regulation of catalytic activity", "synthesized_glycan_count": 0, "hit_score": 48.0, "record_id": "P01033-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZUT1-1", "uniprot_id": "NKAP1_HUMAN", "mass": 34110.0, "length": 292, "protein_name": "Uncharacterized protein NKAPD1", "gene_name": "NKAPD1", "organism": "Human", "refseq_name": "uncharacterized protein NKAPD1 isoform b", "refseq_ac": "NP_001076439", "gene_names_uniprotkb": "NKAPD1; C11orf57", "gene_names_refseq": "Ahed; C11orf57; NKAPD1", "protein_names_uniprotkb": "Uncharacterized protein NKAPD1; NKAP domain containing protein 1", "protein_names_refseq": "NKAP domain containing protein 1; attenuated haematopoietic development; uncharacterized protein C11orf57; uncharacterized protein NKAPD1 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:55216)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;17525332;20068231;21406692;25880248;26811146;28063628;28904123;29393594;29632046;31844290;32265295;33298915", "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": 5, "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": "Q5RL41;Q6IN53;Q7Z357;Q8N2T3", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q6ZUT1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A2RUB6-1", "uniprot_id": "CCD66_HUMAN", "mass": 109411.0, "length": 948, "protein_name": "Coiled-coil domain-containing protein 66", "gene_name": "CCDC66", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 66 isoform 2", "refseq_ac": "NP_001012524", "gene_names_uniprotkb": "CCDC66", "gene_names_refseq": "CCDC66", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 66", "protein_names_refseq": "coiled-coil domain-containing protein 66 isoform 2; coiled-coil domain-containing protein 66", "tax_id": 9606, "disease": "retinitis pigmentosa (Disease Ontology:DOID:10584)", "pathway": " (hsa:285331)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "11237011;18669648;19777273;21680557;23481700;24714562;24715725;25576301;25645385;25880248;25892735;26154972;26375851;26992070;27600516;27846572;27862975;27920218;28228285;28235840;28832583;28834231;29242379;29493099;29508533;29557506;29786170;30410026;30429286;30524438;31844290;32157095;32357974;32387766;32453716;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34087483;34211107;34252882;34405274;34509645;35051231;35069793;35580925;35849559;36010968;36606424;37217939;37852749", "class_list": "", "function": "CCDC66 mutations are associated with high myopia through affected cell mitosis. Publication Status: Online-Only, [RefSeq, PubMed]; CCDC66 regulates primary cilium length and signaling via interactions with transition zone and axonemal proteins., [RefSeq, PubMed]; Circular RNA CCDC66 Improves Murine Double Minute 4 (MDM4) Expression through Targeting miR-370 in Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Circular RNA circCCDC66 promotes glioma proliferation by acting as a ceRNA for miR-320a to regulate FOXM1 expression., [RefSeq, PubMed]; Microtubule-binding protein required for ciliogenesis (PubMed:28235840). May function in ciliogenesis by mediating the transport of proteins like BBS4 to the cilium, but also through the organization of the centriolar satellites (PubMed:28235840). Required for the assembly of signaling-competent cilia with proper structure and length (PubMed:36606424). Mediates this function in part by regulating transition zone assembly and basal body recruitment of the IFT-B complex (PubMed:36606424). Cooperates with the ciliopathy proteins CSPP1 and CEP104 during cilium length regulation (PubMed:36606424). Essential for cilium elongation, maintaining ciliary length and stability, and inhibiting disassembly (likely by stabilizing the axoneme) (By similarity). Also plays a role in ciliary Hedgehog pathway activation (By similarity). Plays two important roles during cell division (PubMed:35849559). First, is required for mitotic progression via regulation of spindle assembly, organization and orientation, levels of spindle microtubules (MTs), kinetochore-fiber integrity, and chromosome alignment (PubMed:35849559). Second, functions during cytokinesis in part by regulating assembly and organization of central spindle and midbody MTs (PubMed:35849559). Plays a role in retina morphogenesis and/or homeostasis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; This study identifies CCDC66 as a targeting factor for centrosome and cilium proteins, [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": 1, "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": "B3KWL8;Q4VC34;Q8N949", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005813 centrosome;GO:0005819 spindle;GO:0005874 microtubule;GO:0005929 cilium;GO:0001917 photoreceptor inner segment", "go_biological_process": "GO:1902850 microtubule cytoskeleton organization involved in mitosis;GO:0051301 cell division;GO:0090307 mitotic spindle assembly;GO:0001895 retina homeostasis;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "A2RUB6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZP65-1", "uniprot_id": "BICL1_HUMAN", "mass": 64841.0, "length": 573, "protein_name": "BICD family-like cargo adapter 1", "gene_name": "BICDL1", "organism": "Human", "refseq_name": "BICD family-like cargo adapter 1 isoform 1", "refseq_ac": "NP_997194", "gene_names_uniprotkb": "BICDL1; BICDR1; CCDC64", "gene_names_refseq": "BICDL1; BICDR-1; BICDR1; CCDC64A; CCDC64; H_267D11.1", "protein_names_uniprotkb": "BICD family-like cargo adapter 1; BICD-related protein 1; BICDR-1; Bicaudal D-related protein 1; CCDC64A; Coiled-coil domain-containing protein 64A", "protein_names_refseq": "BICD family-like cargo adapter 1 isoform 1; BICD family-like cargo adapter 1; BICD-related protein 1; bicaudal D-related protein 1; coiled-coil domain containing 64; coiled-coil domain-containing protein 64A", "tax_id": 9606, "disease": "", "pathway": " (hsa:92558)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;26992070;28832583;28904123;29557506;30315122;30379171;31844290", "class_list": "", "function": "Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track). Predominantly recruits 2 dyneins, which increases both the force and speed of the microtubule motor. Component of secretory vesicle machinery in developing neurons that acts as a regulator of neurite outgrowth. Regulates the secretory vesicle transport by controlling the accumulation of Rab6-containing secretory vesicles in the pericentrosomal region restricting anterograde secretory transport during the early phase of neuronal differentiation, thereby inhibiting neuritogenesis., [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": 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": "A8MUC8;B4DWL0;B5MDJ0;O95000", "ec_number_list": "", "go_molecular_function": "GO:0031267 small GTPase binding;GO:0034452 dynactin binding", "go_cellular_component": "GO:0005813 centrosome", "go_biological_process": "GO:0031175 neuron projection development;GO:0047496 vesicle transport along microtubule;GO:0055107 Golgi to secretory granule transport", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q6ZP65-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WYA6-1", "uniprot_id": "CTBL1_HUMAN", "mass": 65173.0, "length": 563, "protein_name": "Beta-catenin-like protein 1", "gene_name": "CTNNBL1", "organism": "Human", "refseq_name": "beta-catenin-like protein 1 isoform 2", "refseq_ac": "NP_001268424", "gene_names_uniprotkb": "CTNNBL1; C20orf33; PP8304", "gene_names_refseq": "C20orf33; CTNNBL1; IMD99; NAP; P14L; PP8304; dJ633O20.1", "protein_names_uniprotkb": "Beta-catenin-like protein 1; NAP; Nuclear-associated protein; Testis development protein NYD-SP19", "protein_names_refseq": "beta-catenin-like protein 1 isoform 2; beta-catenin-like protein 1; nuclear associated protein; testis development protein NYD-SP19", "tax_id": 9606, "disease": "immunodeficiency 99 (Disease Ontology:DOID:0061069); morbid obesity (Disease Ontology:DOID:11981); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:56259); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 3, "publication_count": 173, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11747608;11991638;12176931;12411573;12414731;12477934;12659813;14519844;14625303;14713954;14762106;15084397;15498874;16314458;16809785;17095540;17332742;17606899;18322460;18325910;18593880;18669648;18722174;18767875;19103666;19165350;19228371;19536130;19608861;19651622;20068231;20112406;20176811;20423332;20980672;21385873;21536652;2176635;21911577;22110043;22223895;22365833;22959432;22961380;23186163;23222130;23236153;23345524;23897482;24196718;24269683;24275569;24304693;24366607;24448447;24714562;24737827;24914973;25418920;25555158;25576301;2558966;25645385;25892735;26092250;26154972;26375851;26385511;26420826;26728094;26811146;26929215;26969736;26992070;27108190;27377154;27459055;27600516;27683217;27846572;27920218;28062851;28063628;28076346;28228285;28502770;28510447;28514659;28781166;28832583;28834231;28904123;29242379;29301961;29360106;29361316;29393594;29493099;29508533;29557506;29632046;29632711;2963332;29769354;29786170;29902443;30315122;30315277;30379171;30410026;30599162;30705154;30728453;30765414;30833945;30975767;31154438;31217245;31409651;31530632;31844290;31848261;32157095;32179686;32329775;32387766;32484799;32488085;32494006;32502341;32897882;32938616;32961708;32983136;33177556;33243851;33298915;33446560;33592498;33691108;33717175;33936100;33968037;34019948;34171305;34301950;34822310;34932366;35051231;35215846;35385551;35580925;36284347;36581221;37108060;3757028;40596516;40914422;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. Participates in AID/AICDA-mediated somatic hypermutation (SHM) and class-switch recombination (CSR), 2 processes resulting in the production of high-affinity, mutated isotype-switched antibodies (PubMed:32484799)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID., [RefSeq, PubMed]; Regulation of UV-B-Induced Inflammatory Mediators by Activity-Dependent Neuroprotective Protein (ADNP)-Derived Peptide (NAP) in Corneal Epithelium. Publication Status: Online-Only, [RefSeq, PubMed]; Study suggests a novel mechanism for the development of obesity, where CTNNBL1 may play an important role. GeneRIF: Genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]., [RefSeq]; The results, therefore, identify residues in AID involved in its in vivo targeting and suggest they might act through interaction with CTNNBL1, giving possible insight into the linkage between AID recruitment and target-gene transcription., [RefSeq, PubMed]; Transcriptional Regulation of Wnt/beta-Catenin Pathway in Colorectal Cancer. Review article Publication Status: Online-Only, [RefSeq, PubMed]; We detected no confirmation of the recent association of variants in CTNNBL1 with obesity in a population of Central European ancestry GeneRIF: Observational 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": 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": 2, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DE16;Q0VAL9;Q0VAM0;Q53HI8;Q5JWZ2;Q5JWZ3;Q5JWZ7;Q5JWZ8;Q8N454;Q8NCL2;Q8TBD6;Q96KD2;Q9H7A5;Q9NQF9;Q9NTX0;Q9Y3M7", "ec_number_list": "", "go_molecular_function": "GO:0019899 enzyme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0002250 adaptive immune response;GO:0016445 somatic diversification of immunoglobulins;GO:0000398 mRNA splicing, via spliceosome;GO:0010467 gene expression", "synthesized_glycan_count": 0, "hit_score": 17.7, "record_id": "Q8WYA6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q49A88-1", "uniprot_id": "CCD14_HUMAN", "mass": 106302.0, "length": 953, "protein_name": "Coiled-coil domain-containing protein 14", "gene_name": "CCDC14", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 14 isoform 2", "refseq_ac": "NP_001295246", "gene_names_uniprotkb": "CCDC14", "gene_names_refseq": "CCDC14", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 14", "protein_names_refseq": "coiled-coil domain-containing protein 14 isoform 2; coiled-coil domain-containing protein 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:64770)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "11237011;23186163;23481700;24613305;24715725;25505266;25576301;25645385;26154972;26297806;26375851;26992070;27600516;27846572;28446606;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632711;29786170;30315122;30484775;30524438;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33968037;33981976;34087483;34171305;34185709;34211107;34509645;34932366;35051231;35561310;35580925;36010968;38253038", "class_list": "", "function": "Negatively regulates centriole duplication. Negatively regulates CEP63 and CDK2 centrosomal localization., [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": 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": 2, "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": "B7Z2Q3;B7Z2T2;B8ZZ41;B8ZZ58;D3DN98;Q7Z3N3;Q86T30;Q8IWF8;Q8WUJ8;Q96K47;Q9H9A3;Q9UFH0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0034451 centriolar satellite", "go_biological_process": "GO:0021762 substantia nigra development;GO:0071539 protein localization to centrosome", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q49A88-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61601-1", "uniprot_id": "NCALD_HUMAN", "mass": 22245.0, "length": 193, "protein_name": "Neurocalcin-delta", "gene_name": "NCALD", "organism": "Human", "refseq_name": "neurocalcin-delta", "refseq_ac": "NP_001035714", "gene_names_uniprotkb": "NCALD", "gene_names_refseq": "NCALD", "protein_names_uniprotkb": "Neurocalcin-delta", "protein_names_refseq": "neurocalcin-delta", "tax_id": 9606, "disease": "", "pathway": " (hsa:83988); (R-HSA-451308)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "11230166;11237011;11267673;19342380;27397612;28228285;28514659;28832583;29242379;29317506;29493099;29508533;30429286;31844290;32157095;32228639;32350084;32357974;32938616;33123756;33141586;33968037;34357683;34509645;35051231;35494241;35580925;7852401;8782898;9625352", "class_list": "", "function": "Low expression of NCALD is associated with chemotherapy resistance and poor prognosis in epithelial ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in the calcium-dependent regulation of rhodopsin phosphorylation. Binds three calcium ions., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The author characterizes the biochemical properties of recombinant bovine neurocalcin delta, whose protein sequence is identical to the human ortholog, [RefSeq, PubMed]; This gene encodes a member of the neuronal calcium sensor (NCS) family of calcium-binding proteins. The protein contains an N-terminal myristoylation signal and four EF-hand calcium binding loops. The protein is cytosolic at resting calcium levels; however, elevated intracellular calcium levels induce a conformational change that exposes the myristoyl group, resulting in protein association with membranes and partial co-localization with the perinuclear trans-golgi network. The protein is thought to be a regulator of G protein-coupled receptor signal transduction. Several alternatively spliced variants of this gene have been determined, all of which encode the same protein; additional variants may exist 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": 2, "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": "P29554;Q8IYC3;Q9H0W2", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0005509 calcium ion binding;GO:0030276 clathrin binding;GO:0015631 tubulin binding;GO:0043014 alpha-tubulin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0030130 clathrin coat of trans-Golgi network vesicle", "go_biological_process": "GO:0019722 calcium-mediated signaling;GO:0009966 regulation of signal transduction;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "P61601-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NHH9-1", "uniprot_id": "ATLA2_HUMAN", "mass": 66229.0, "length": 583, "protein_name": "Atlastin-2", "gene_name": "ATL2", "organism": "Human", "refseq_name": "atlastin-2 isoform 2", "refseq_ac": "NP_001129145", "gene_names_uniprotkb": "ATL2; ARL6IP2", "gene_names_refseq": "ARL3IP2; ARL6IP2; ATL-2; ATL2; aip-2; atlastin2", "protein_names_uniprotkb": "Atlastin-2; 3.6.5.-; ADP-ribosylation factor-like protein 6-interacting protein 2; ATL-2", "protein_names_refseq": "ADP-ribosylation factor-like protein 6-interacting protein 2; ARL-6-interacting protein 2; atlastin-2 isoform 2", "tax_id": 9606, "disease": "hereditary spastic paraplegia 3A (Disease Ontology:DOID:0110791); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:64225); (R-HSA-9918487)", "pathway_count": 2, "publication_count": 89, "publication_id_list": "11237011;14506257;18270207;18669648;19665976;19690332;22065636;23481700;23969831;24129315;24715725;25367160;25418920;25576301;25802875;25892735;26154972;26375851;26735137;26811146;26992070;27619977;27846572;27920218;28063628;28228285;28510447;28514659;28649982;28832583;28904123;29117567;29242379;29331515;29393594;29493099;29508533;29557506;29632046;30315122;30484775;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32890404;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;33988678;34171305;34211107;34696522;34725712;34817557;34932366;35051231;35561310;35580925;35585045;36010968;36215666;36241641;37938771;38177122;40914422", "class_list": "", "function": "A family of human GTPases, atlastin-2 and -3 that are closely related to atlastin-1 are described., [RefSeq, PubMed]; Atlastin 2/3 regulate ER targeting of the ULK1 complex to initiate autophagy., [RefSeq, PubMed]; Atlastin-2 (ATL2) is a membrane-anchored GTPase that mediates the GTP-dependent fusion of endoplasmic reticulum (ER) membranes, maintaining the continuous ER network. It facilitates the formation of three-way junctions where ER tubules intersect (PubMed:18270207, PubMed:19665976, PubMed:22065636, PubMed:27619977, PubMed:34817557). Two atlastin-2 on neighboring ER tubules bind GTP and form loose homodimers through the GB1/RHD3-type G domains and 3HB regions. Upon GTP hydrolysis, the 3HB regions tighten, pulling the membranes together to drive their fusion. After fusion, the homodimer disassembles upon release of inorganic phosphate (Pi). Subsequently, GDP dissociates, resetting the monomers to a conformation ready for a new fusion cycle (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Reconstitution of human atlastin fusion activity reveals autoinhibition by the C terminus., [RefSeq, PubMed]; The role of GTP hydrolysis in the ATL2 fusion mechanism also needs to be tempered by the uncertainty of whether the behavior of the ATL2 soluble domain, observed herein, reflects the behavior of the full-length, membrane-anchored protein., [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": 15, "reported_glycation": 0, "reported_snv": 14, "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": "B7Z1X2;B7Z7X8;Q4ZG30;Q7Z630;Q8NHH8;Q9H5M7", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;3.6.1.-;1.1.1.100;1.3.1.39;2.3.1.38;2.3.1.39;2.3.1.41;2.3.1.85;3.1.2.14;4.2.1.59;3.6.5.4;2.7.11.1;3.6.-.-;3.6.1.15;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0140523 GTPase-dependent fusogenic activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0098826 endoplasmic reticulum tubular network membrane", "go_biological_process": "GO:0051260 protein homooligomerization;GO:1990809 endoplasmic reticulum tubular network membrane organization;GO:0007029 endoplasmic reticulum organization;GO:0016320 endoplasmic reticulum membrane fusion", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q8NHH9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NVP2-1", "uniprot_id": "ASF1B_HUMAN", "mass": 22434.0, "length": 202, "protein_name": "Histone chaperone ASF1B", "gene_name": "ASF1B", "organism": "Human", "refseq_name": "histone chaperone ASF1B", "refseq_ac": "NP_060624", "gene_names_uniprotkb": "ASF1B", "gene_names_refseq": "ASF1B; CIA-II", "protein_names_uniprotkb": "Histone chaperone ASF1B; Anti-silencing function protein 1 homolog B; CCG1-interacting factor A-II; CIA-II; hAsf1b; hAsf1; hCIA-II", "protein_names_refseq": "ASF1 anti-silencing function 1 homolog B; CCG1-interacting factor A-II; anti-silencing function protein 1 homolog B; hAsf1b; hAsf1; hCIA-II; histone chaperone ASF1B", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612)", "pathway": " (hsa:55723)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "11237011;11470414;11897662;12842904;14718166;15664198;16151251;16537536;16980972;18669648;19413330;20016786;20068231;20953179;21454524;22195965;22407294;23301498;24616510;24715725;26527279;26992070;28228285;28446606;28832583;28834231;28904123;29242379;29331515;29437277;29557506;29930882;30429286;30524438;30779550;31092671;31217245;31530632;31844290;32157095;32161166;32387766;32488085;32897882;32938616;32983136;33298915;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34561969;34932366;35051231;35136069;35561310;35580925;36010968;36241641;36284347;36416310;36947060;37452510;39018712", "class_list": "", "function": "ASF1B is an essential prognostic indicator linked to the growth and resistance characteristics of bladder cancer., [RefSeq, PubMed]; Antisilencing function 1B promotes the progression of pancreatic cancer by activating cMyc., [RefSeq, PubMed]; CIA-II is associated with lower-grade glioma survival and cell proliferation., [RefSeq, PubMed]; Data suggest that CIA-II is a histone chaperone and is implicated in the regulation of mammalian spermatogenesis, [RefSeq, PubMed]; Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly (PubMed:11897662, PubMed:14718166, PubMed:15664198, PubMed:16151251, PubMed:21454524, PubMed:26527279). Cooperates with chromatin assembly factor 1 (CAF-1) to promote replication-dependent chromatin assembly (PubMed:11897662, PubMed:14718166, PubMed:15664198, PubMed:16151251). Also involved in the nuclear import of the histone H3-H4 dimer together with importin-4 (IPO4): specifically recognizes and binds newly synthesized histones with the monomethylation of H3 'Lys-9' (H3K9me1) and diacetylation at 'Lys-5' and 'Lys-12' of H4 (H4K5K12ac) marks in the cytosol (PubMed:20953179, PubMed:21454524, PubMed:26527279). Does not participate in replication-independent nucleosome deposition which is mediated by ASF1A and HIRA (PubMed:11897662, PubMed:14718166, PubMed:15664198, PubMed:16151251). Required for gonad development (PubMed:12842904)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The interaction between ASF1B and TLK1 promotes the malignant progression of low-grade glioma., [RefSeq, PubMed]; This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The encoded protein is the substrate of the tousled-like kinase family of cell cycle-regulated kinases, and may play a key role in modulating the nucleosome structure of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly. [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": 4, "reported_mutagensis": 4, "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": "Q53G51;Q9NVZ0", "ec_number_list": "", "go_molecular_function": "GO:0042393 histone binding;GO:0140713 histone chaperone activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000785 chromatin;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0006334 nucleosome assembly;GO:0006335 DNA replication-dependent chromatin assembly", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q9NVP2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q68CZ2-1", "uniprot_id": "TENS3_HUMAN", "mass": 155266.0, "length": 1445, "protein_name": "Tensin-3", "gene_name": "TNS3", "organism": "Human", "refseq_name": "tensin-3 isoform 3", "refseq_ac": "NP_073585", "gene_names_uniprotkb": "TNS3; TEM6; TENS1; TPP", "gene_names_refseq": "TEM6; TENS1; TNS3", "protein_names_uniprotkb": "Tensin-3; 3.1.3.-; Tensin-like SH2 domain-containing protein 1; Tumor endothelial marker 6", "protein_names_refseq": "tensin-3 isoform 3; tensin-like SH2 domain containing 1; tensin-like SH2 domain-containing protein 1; thyroid specific PTB domain protein; tumor endothelial marker 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:64759); (R-HSA-8875513)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "11230166;11237011;11559528;12750860;15140944;16461921;17389395;17643115;18212344;18220336;18669648;18767875;19413330;19651622;19664994;19732724;19901323;20068231;20069572;20166139;23186163;23481700;24275569;24715725;24814316;25576301;25645385;26166433;26427649;26811146;26992070;27397612;27452731;27600516;27846572;27862975;28510447;28832583;28834231;29242379;29393594;29557506;29632711;29786170;29789417;30379171;30429286;31039795;31092671;31844290;31905841;32157095;32357974;32387766;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33691108;33936100;33968037;34171305;34509645;34932366;35051231;35318648;35561310;35580925;35687021;35954177;35987623;36010968;36284347;37668682;37938771;38109544;38665916;39302247;39531497;39534244", "class_list": "", "function": "Abnormal TNS3 gene methylation in patients with congenital scoliosis. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of Tensin-3 as a MALT1 substrate that controls B cell adhesion and lymphoma dissemination., [RefSeq, PubMed]; May act as a protein phosphatase and/or a lipid phosphatase (Probable). Involved in the dissociation of the integrin-tensin-actin complex (PubMed:17643115). EGF activates TNS4 and down-regulates TNS3 which results in capping the tail of ITGB1 (PubMed:17643115). Increases DOCK5 guanine nucleotide exchange activity towards Rac and plays a role in osteoclast podosome organization (By similarity). Enhances RHOA activation in the presence of DLC1 (PubMed:26427649). Required for growth factor-induced epithelial cell migration; growth factor stimulation induces TNS3 phosphorylation which changes its binding preference from DLC1 to the p85 regulatory subunit of the PI3K kinase complex, displacing PI3K inhibitor PTEN and resulting in translocation of the TNS3-p85 complex to the leading edge of migrating cells to promote RAC1 activation (PubMed:26166433). Meanwhile, PTEN switches binding preference from p85 to DLC1 and the PTEN-DLC1 complex translocates to the posterior of migrating cells to activate RHOA (PubMed:26166433). Acts as an adapter protein by bridging the association of scaffolding protein PEAK1 with integrins ITGB1, ITGB3 and ITGB5 which contributes to the promotion of cell migration (PubMed:35687021). Controls tonsil-derived mesenchymal stem cell proliferation and differentiation by regulating the activity of integrin ITGB1 (PubMed:31905841)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; May act as a protein phosphatase and/or a lipid phosphatase. Involved in fibrillar adhesion formation. Essential for myofibroblast differentiation and myofibroblast-mediated extracellular matrix deposition. Enhances RHOA activation in the presence of DLC1. Plays a role in cell polarization and migration. May be involved in cartilage development and in linking signal transduction pathways to the cytoskeleton., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; PEAK1 Y635 phosphorylation regulates cell migration through association with Tensin3 and integrins., [RefSeq, PubMed]; Tensin Regulates Fundamental Biological Processes by Interacting with Integrins of Tonsil-Derived Mesenchymal Stem Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Tensin-3 is involved in osteogenic versus adipogenic fate of human bone marrow stromal cells. Publication Status: Online-Only, [RefSeq, PubMed]; Tensin3 may function as a platform for the disassembly of EGF-related signaling complexes at focal adhesions., [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": 42, "reported_mutagensis": 6, "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": "B2RNV1;Q6IPQ2;Q8IZW7;Q8NAD0;Q96PE0;Q96S48", "ec_number_list": "2.7.10.1;3.1.3.-", "go_molecular_function": "GO:0004721 phosphoprotein phosphatase activity;GO:0003779 actin binding;GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0002102 podosome;GO:0005856 cytoskeleton;GO:0009986 cell surface", "go_biological_process": "GO:0035022 positive regulation of Rac protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q68CZ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H694-1", "uniprot_id": "BICC1_HUMAN", "mass": 104844.0, "length": 974, "protein_name": "Protein bicaudal C homolog 1", "gene_name": "BICC1", "organism": "Human", "refseq_name": "protein bicaudal C homolog 1", "refseq_ac": "NP_001073981", "gene_names_uniprotkb": "BICC1", "gene_names_refseq": "BICC1; BICC", "protein_names_uniprotkb": "Protein bicaudal C homolog 1; Bic-C", "protein_names_refseq": "FGFR2-BICC1 fusion kinase protein; bicaudal C homolog 1; protein bicaudal C homolog 1", "tax_id": 9606, "disease": "visceral heterotaxy (Disease Ontology:DOID:0050545); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); cystic renal dysplasia (Disease Ontology:DOID:0111682); cystic kidney disease (Disease Ontology:DOID:2975); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898)", "pathway": " (hsa:80114)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;15465627;16385451;17081983;19608861;19651622;20068231;20516156;21922595;24501278;25576301;27397612;27600516;29044055;29242379;29557506;29786170;30379171;30429286;30832715;31844290;32157095;32259627;32387766;32488085;32736193;32938616;33392160;33592498;33968037;34171305;35051231;35254053;35318648;35580925;36010968;36284347;37217939;37880742", "class_list": "", "function": "BICC1 as a novel prognostic biomarker in gastric cancer correlating with immune infiltrates., [RefSeq, PubMed]; Data identified a significantly differentially methylated cg09696939 near gene BICC1 to be associated with cleft lip and cleft palate. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic variants in BICC1 and RASGRF1 are closely associated with high myopia, which appears to be a potential candidate for high myopia in Chinese Han population., [RefSeq, PubMed]; Lymph node metastasis related gene BICC1 promotes tumor progression by promoting EMT and immune infiltration in pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-101-3p and miR-199b-5p promote cell apoptosis in oral cancer by targeting BICC1., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Putative RNA-binding protein. Acts as a negative regulator of Wnt signaling. May be involved in regulating gene expression during embryonic development., [UniProtKB, PubMed]; The nonsense mutation identified in BICC1 and associated with cystic renal dysplasia results in a complete loss of Wnt inhibitory activity. The point mutation in the SAM domain results in a 22% loss of activity., [RefSeq, PubMed]; This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 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": 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": 34, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0007368 determination of left/right symmetry;GO:0006402 mRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9H694-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P42771-1", "uniprot_id": "CDN2A_HUMAN", "mass": 16533.0, "length": 156, "protein_name": "Cyclin-dependent kinase inhibitor 2A", "gene_name": "CDKN2A", "organism": "Human", "refseq_name": "cyclin-dependent kinase inhibitor 2A isoform p16INK4a", "refseq_ac": "NP_000068", "gene_names_uniprotkb": "CDKN2A; CDKN2; MLM; MTS1", "gene_names_refseq": "ARF; CAI2; CDK4I; CDKN2A; CDKN2; CMM2; INK4A; INK4; MLM; MTS-1; MTS1; P14ARF; P14; P16-INK4A; P16INK4A; P16INK4; P16; P19ARF; P19; TP16", "protein_names_uniprotkb": "Cyclin-dependent kinase inhibitor 2A; CDK4I; Cyclin-dependent kinase 4 inhibitor A; MTS-1; Multiple tumor suppressor 1; p16-INK4a; p16-INK4; p16INK4A", "protein_names_refseq": "CDK4 inhibitor p16-INK4; CDKN2A/ARF Intron 2 lncRNA; alternative reading frame; cell cycle negative regulator beta; cyclin-dependent kinase 4 inhibitor A; cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4); cyclin-dependent kinase inhibitor 2A isoform p16INK4a; inhibitor of cdk4 A; multiple tumor suppressor 1; multiple tumour suppressor 1", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); primary cutaneous T-cell non-Hodgkin lymphoma (Disease Ontology:DOID:0060061); pre-malignant neoplasm (Disease Ontology:DOID:0060071); B-lymphoblastic leukemia/lymphoma (Disease Ontology:DOID:0080630); melanoma and neural system tumor syndrome (Disease Ontology:DOID:0111511); dysplastic nevus syndrome (Disease Ontology:DOID:10041); prostate cancer (Disease Ontology:DOID:10283); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); Human papillomavirus infectious disease (Disease Ontology:DOID:11166); leukemia (Disease Ontology:DOID:1240); endometrial cancer (Disease Ontology:DOID:1380); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); melanoma (Disease Ontology:DOID:1909); leiomyosarcoma (Disease Ontology:DOID:1967); nephroblastoma (Disease Ontology:DOID:2154); transitional cell carcinoma (Disease Ontology:DOID:2671); granulosa cell tumor (Disease Ontology:DOID:2999); invasive ductal carcinoma (Disease Ontology:DOID:3008); glioblastoma (Disease Ontology:DOID:3068); high grade glioma (Disease Ontology:DOID:3070); neurilemmoma (Disease Ontology:DOID:3192); rhabdomyosarcoma (Disease Ontology:DOID:3247); germinoma (Disease Ontology:DOID:3304); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); renal cell carcinoma (Disease Ontology:DOID:4450); sarcomatoid mesothelioma (Disease Ontology:DOID:4488); pancreatic carcinoma (Disease Ontology:DOID:4905); cholangiocarcinoma (Disease Ontology:DOID:4947); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); T-cell acute lymphoblastic leukemia (Disease Ontology:DOID:5603); uterine carcinosarcoma (Disease Ontology:DOID:6171); hepatocellular carcinoma (Disease Ontology:DOID:684); familial melanoma (Disease Ontology:DOID:6846); neuroblastoma (Disease Ontology:DOID:769); osteoarthritis (Disease Ontology:DOID:8398); chronic myeloid leukemia (Disease Ontology:DOID:8552); in situ carcinoma (Disease Ontology:DOID:8719); skin melanoma (Disease Ontology:DOID:8923); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); acute myeloid leukemia (Disease Ontology:DOID:9119); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); obesity (Disease Ontology:DOID:9970); melanoma-pancreatic cancer syndrome (MONDO:MONDO:0011713)", "pathway": " (hsa:1029); (R-HSA-111471); (R-HSA-2559580); (R-HSA-2559582); (R-HSA-2559585); (R-HSA-3108214); (R-HSA-3232118); (R-HSA-6804757); (R-HSA-69231); (R-HSA-69541); (R-HSA-8853884); (R-HSA-8941858); (R-HSA-9630791); (R-HSA-9630794); (R-HSA-9632697); (R-HSA-9632700); (R-HSA-9645722); (R-HSA-9646303); (R-HSA-9646304); (R-HSA-9759194); (R-HSA-9825892)", "pathway_count": 21, "publication_count": 431, "publication_id_list": "10201372;10207050;10318916;10347217;10358095;10380936;10385618;10389768;10432220;10445844;10484981;10491434;10498896;10499802;10548110;10556039;10574707;10608892;10651484;10722742;10770922;10772813;10821856;10831586;10869234;10871633;10874641;10892805;10980695;10980696;11032757;11058911;11062467;11073976;11114305;11136714;11157749;11231573;11234019;11237011;11314011;11314038;11340163;11359766;11416152;11504915;11506491;11564866;11571653;11595726;11719808;11782450;11792325;11807902;11883935;11884610;11889051;11923872;11983168;12019208;12072434;12082609;12134156;12154087;12189133;12193592;12228235;12356736;12406345;12419227;12421820;12435631;12435635;12444543;12446718;12529334;12556369;12581788;12660818;12700603;12808055;12832467;13130464;1423597;14507994;14517297;14532106;14597415;14636574;14646619;14679123;14679213;14729966;15053880;15138260;15175327;15247228;15287722;1535557;15355988;15361825;15494207;15507434;15563468;15567177;15572696;15577313;15579463;15608651;15705881;15774718;15788536;15823533;15829507;15860862;15866172;15876874;15916963;15940266;15959518;15989956;16030353;16140942;1614537;16163388;16173922;16186825;16195327;16211008;16234564;16337592;16402859;16436515;16470311;16474402;16478998;16608850;16614725;16626623;16626738;16688858;16713577;16781829;16782892;16810316;16826196;16845383;17061045;17092340;17110379;17121812;17171691;17210787;17254966;17254967;17254968;17255097;17255954;17283066;17332741;17344414;17395714;17486064;17486078;17492760;17505264;17625456;17658461;17693435;17765224;17825402;17875933;17908796;17909018;17925401;18004878;18178632;18267069;1828392;1828393;1828394;18305112;18365017;18374648;18411265;18414028;18538737;18555777;18555778;18617891;18625722;18691969;18708356;18710949;18793328;18803811;18827403;19075005;19115249;19260062;19273602;19287951;19451217;19451218;19458076;19462008;19487459;19528227;19571771;19596686;19622798;19706679;19712690;19744555;19756449;19779455;19805069;19808967;19816404;19838211;19956565;20016594;20016603;20028861;20100835;20107316;20107323;20112406;20152798;20190268;20208519;20209145;20212158;20340136;20351173;20360007;20438709;20452968;20452972;20534573;20547755;20663872;20705237;20713061;20843055;20952511;21053367;21098080;21147198;21270107;21284855;21325273;21375726;21423214;21479383;21550342;21670496;21715330;21730132;21730163;2183031;21900752;21965678;21979375;21986495;22020331;22022399;22094112;22178396;22325352;22336108;22440936;22508508;22634325;22635276;22647378;22661230;22683641;22751501;23007395;23333304;23417673;23622515;23737759;23750026;23846687;23871147;24027577;2405250;24366607;24390485;24515438;24578887;24659262;24706756;24782567;24835590;24876129;24944698;25114211;25142731;25218447;25418920;25733683;26073453;26486273;26768311;26811146;26992070;27161318;27323397;27473757;27846572;27899578;27935866;28120917;28832583;28834231;28904123;28985506;29233872;29242379;29393594;29786170;30711375;30779550;31154438;31530632;31543423;31597407;31844290;31848261;32161166;32284348;32357974;32488085;32502341;33043019;33214551;33298915;33717175;34019948;34171305;35580925;36215666;36241641;37938771;7535770;7588608;7588633;7606716;7624129;7647780;7686617;7784084;7797074;7816143;7859739;7882351;7954814;7957050;7970734;7972006;7987387;8001816;8060323;8078588;8114739;8139570;8152487;8153634;8234276;8246996;8259215;8319905;8336704;8343963;8384717;8413215;8413306;8479525;8497257;8552081;8595405;8617720;8622669;8622687;8622688;8626550;8653684;8688489;8710906;8723678;8741839;8774846;8783570;8846784;8884985;8887688;8939459;8954786;8974401;9030721;9042862;9106657;9144196;9162092;9190208;9195981;9325318;9328469;9334810;9354451;9412458;9425228;9447971;9448290;9452416;9508775;9516223;9529249;9564042;9628874;9710594;9724636;9751050;9756909;9768359;9824166;9885291;9989830", "class_list": "", "function": "ARF is a serine phosphorylation-dependent coregulator of topoisomerase I in vivo, and it regulates cellular sensitivity to camptothecin by interacting with topoisomerase I., [RefSeq, PubMed]; Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein., [UniProtKB, PubMed, PubMed]; Capable of inducing cell cycle arrest in G1 and G2 phases. Acts as a tumor suppressor. Binds to MDM2 and blocks its nucleocytoplasmic shuttling by sequestering it in the nucleolus. This inhibits the oncogenic action of MDM2 by blocking MDM2-induced degradation of p53 and enhancing p53-dependent transactivation and apoptosis. Also induces G2 arrest and apoptosis in a p53-independent manner by preventing the activation of cyclin B1/CDC2 complexes. Binds to BCL6 and down-regulates BCL6-induced transcriptional repression. Binds to E2F1 and MYC and blocks their transcriptional activator activity but has no effect on MYC transcriptional repression. Binds to TOP1/TOPOI and stimulates its activity. This complex binds to rRNA gene promoters and may play a role in rRNA transcription and/or maturation. Interacts with NPM1/B23 and promotes its polyubiquitination and degradation, thus inhibiting rRNA processing. Plays a role in inhibiting ribosome biogenesis, perhaps by binding to the nucleolar localization sequence of transcription termination factor TTF1, and thereby preventing nucleolar localization of TTF1 (By similarity). Interacts with COMMD1 and promotes its 'Lys63'-linked polyubiquitination. Interacts with UBE2I/UBC9 and enhances sumoylation of a number of its binding partners including MDM2 and E2F1. Binds to HUWE1 and represses its ubiquitin ligase activity. May play a role in controlling cell proliferation and apoptosis during mammary gland development., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; May be involved in regulation of autophagy and caspase-independent cell death; the short-lived mitochondrial isoform is stabilized by C1QBP., [UniProtKB, PubMed]; Overlapping E2F1/Sp1 site, being present in multiple copies in the p14ARF promoter, may serve as the targets for both E2F1 and Sp1, thereby playing a crucial role in response to some oncogenic signals and stimulators, [RefSeq, PubMed]; P14(ARF) down-regulates E2F-dependent transcription. In cells undergoing E2F-dependent apoptosis it arrests the cell cycle. p14(ARF) has multiple binding domains for E2F-1, one within the N-terminal region coinciding with the regulation of E2F activity., [RefSeq, PubMed]; P16gamma, like p16(INK4A), induced cell-cycle arrest at G(0)/G(1), and inhibited cell growth in colony formation assay. GeneRIF: p16gamma: a novel transcriptional variant of p16INK4A, [RefSeq, PubMed]; Suggests that the long dual coding region and/or the resulting disordered protein structure may facilitate NMD escape of the variant encoding the p14ARF isoform., [RefSeq, PubMed]; The interaction of p14(ARF) with mitochondrial proteins, including p32 and enables p53-independent cell death., [RefSeq, PubMed]; This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 74, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 46, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A5X2G7;D3DRK1;G3XAG3;O95440;Q15191;Q5VVJ5;Q96B52;Q9NP05", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0019901 protein kinase binding;GO:0051059 NF-kappaB binding;GO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0035985 senescence-associated heterochromatin focus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0008285 negative regulation of cell population proliferation;GO:0045892 negative regulation of DNA-templated transcription;GO:0001953 negative regulation of cell-matrix adhesion;GO:0007265 Ras protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 43.4, "record_id": "P42771-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P84243-1", "uniprot_id": "H33_HUMAN", "mass": 15328.0, "length": 136, "protein_name": "Histone H3.3", "gene_name": "H3-3A; H3-3B", "organism": "Human", "refseq_name": "histone H3.3", "refseq_ac": "NP_002098", "gene_names_uniprotkb": "H3-3A; H3-3B; H3.3A; H3.3B; H3F3A; H3F3B; H3F3; PP781", "gene_names_refseq": "BRYLIB1; H3-3A; H3.3A; H3F3A; H3F3", "protein_names_uniprotkb": "Histone H3.3", "protein_names_refseq": "H3 histone family member 3A; H3 histone, family 3A; histone H3.3", "tax_id": 9606, "disease": "Bryant-Li-Bhoj neurodevelopmental syndrome (Disease Ontology:DOID:0051010); Bryant-Li-Bhoj neurodevelopmental syndrome 1 (Disease Ontology:DOID:0051011); Bryant-Li-Bhoj neurodevelopmental syndrome 2 (Disease Ontology:DOID:0051012); diffuse midline glioma, H3 K27-altered (Disease Ontology:DOID:0080684); high grade glioma (Disease Ontology:DOID:3070)", "pathway": " (hsa:3020); (hsa:3021); (R-HSA-1912408); (R-HSA-201722); (R-HSA-212300); (R-HSA-2299718); (R-HSA-2559580); (R-HSA-2559582); (R-HSA-427359); (R-HSA-427389); (R-HSA-427413); (R-HSA-5250924); (R-HSA-5334118); (R-HSA-5578749); (R-HSA-5617472); (R-HSA-5625886); (R-HSA-68616); (R-HSA-73728); (R-HSA-73772); (R-HSA-8936459); (R-HSA-8939236); (R-HSA-9018519); (R-HSA-912446); (R-HSA-9616222); (R-HSA-9670095); (R-HSA-9710421); (R-HSA-9764725); (R-HSA-977225); (R-HSA-9821002); (R-HSA-9821993); (R-HSA-983231); (R-HSA-9841922); (R-HSA-9843940); (R-HSA-9843970); (R-HSA-9845323); (R-HSA-9909649); (R-HSA-9937850); (R-HSA-9940951); (R-HSA-9943411); (R-HSA-9943962); (R-HSA-9970672)", "pathway_count": 41, "publication_count": 1029, "publication_id_list": 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"class_list": "", "function": "Histone variant H3.3 promotes metastasis in alveolar rhabdomyosarcoma., [RefSeq, PubMed]; Histones are basic nuclear proteins that are responsible for the 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 contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded is a replication-independent member of the histone H3 family. [provided by RefSeq, Jul 2008]., [RefSeq]; Pediatric glioma histone H3.3 K27M/G34R mutations drive abnormalities in PML nuclear bodies. Publication Status: Online-Only, [RefSeq, PubMed]; The clinicopathological features and prognosis of multifocal high-grade gliomas in adults with H3F3A mutation., [RefSeq, PubMed]; Variant histone H3 which replaces conventional H3 in a wide range of nucleosomes in active genes. Constitutes the predominant form of histone H3 in non-dividing cells and is incorporated into chromatin independently of DNA synthesis. Deposited at sites of nucleosomal displacement throughout transcribed genes, suggesting that it represents an epigenetic imprint of transcriptionally active chromatin. 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, 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": 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": 24, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 17, "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": "P06351;P33155;Q5VV55;Q5VV56;Q66I33;Q9V3W4", "ec_number_list": "", "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding;GO:0031492 nucleosomal DNA binding;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0070062 extracellular exosome;GO:0000776 kinetochore", "go_biological_process": "GO:0051382 kinetochore assembly;GO:0032200 telomere organization;GO:0030307 positive regulation of cell growth;GO:0006334 nucleosome assembly;GO:0007080 mitotic metaphase chromosome alignment", "synthesized_glycan_count": 0, "hit_score": 103.3, "record_id": "P84243-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BQ15-1", "uniprot_id": "SOSB1_HUMAN", "mass": 22338.0, "length": 211, "protein_name": "SOSS complex subunit B1", "gene_name": "NABP2", "organism": "Human", "refseq_name": "SOSS complex subunit B1", "refseq_ac": "NP_076973", "gene_names_uniprotkb": "NABP2; LP3587; OBFC2B; SSB1", "gene_names_refseq": "NABP2; OBFC2B; SOSS-B1; SSB1; hSSB1", "protein_names_uniprotkb": "SOSS complex subunit B1; Nucleic acid-binding protein 2; Oligonucleotide/oligosaccharide-binding fold-containing protein 2B; SOSS-B1; Sensor of single-strand DNA complex subunit B1; Sensor of ssDNA subunit B1; Single-stranded DNA-binding protein 1; hSSB1", "protein_names_refseq": "LP3587; SOSS complex subunit B1; oligonucleotide/oligosaccharide-binding fold containing 2B; oligonucleotide/oligosaccharide-binding fold-containing protein 2B; sensor of single-strand DNA complex subunit B1; sensor of ssDNA subunit B1; single strand DNA-binding protein 1; single-stranded DNA-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79035); (R-HSA-6807505)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "10.1101/2023.09.13.557529;10022900;11237011;11856838;12414730;12574128;14701755;1535687;15498874;16239144;16308568;16901896;1739980;18079403;1829677;18449195;19605351;19667075;19683501;19786574;20457598;2125285;21659603;22137580;22231121;22252320;22441827;23166507;23932780;24097444;24270878;24997600;25249620;25675981;28448822;28506294;28904123;2944599;29485866;33912179;34270706;34464898;35051231;36811381;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "class_list": "", "function": "Cells deficient in hSSB1 exhibit increased radiosensitivity, defective checkpoint activation and enhanced genomic instability coupled with a diminished capacity for DNA repair., [RefSeq, PubMed]; Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint (PubMed:25249620). In the SOSS complex, acts as a sensor of single-stranded DNA that binds to single-stranded DNA, in particular to polypyrimidines. The SOSS complex associates with DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. Required for efficient homologous recombination-dependent repair of double-strand breaks (DSBs) and ATM-dependent signaling pathways., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Genome-wide association study in the Taiwan Biobank identifies four novel genes for human height: NABP2, RASA2, RNF41 and SLC39A5., [RefSeq, PubMed]; HSSB1 (NABP2/OBFC2B) modulates the DNA damage and androgen-induced transcriptional response in prostate cancer., [RefSeq, PubMed]; HSSB1 and hSSB2 form two separate complexes with similar structures, and both complexes participate in DNA damage response., [RefSeq, PubMed]; INTS3 controls the SSB1-mediated DNA damage response., [RefSeq, PubMed]; Mechanisms of SSBP1 variants in mitochondrial disease: Molecular dynamics simulations reveal stable tetramers with altered DNA binding surfaces., [RefSeq, PubMed]; Our data highlights that BLM helicase and hSSB1 function in a dynamic complex in cells and that this complex is likely required for BLM protein stability and function. Publication Status: Online-Only, [RefSeq, PubMed]; Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2B, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 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": 2, "reported_glycation": 0, "reported_snv": 11, "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": "A6NDF8;Q6XYC8", "ec_number_list": "", "go_molecular_function": "GO:0098505 G-rich strand telomeric DNA binding;GO:0003677 DNA binding;GO:0070182 DNA polymerase binding;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035861 site of double-strand break;GO:0000781 chromosome, telomeric region;GO:0070876 SOSS complex", "go_biological_process": "GO:0006281 DNA repair;GO:0006974 DNA damage response;GO:0070200 establishment of protein localization to telomere;GO:0010212 response to ionizing radiation;GO:0000724 double-strand break repair via homologous recombination", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9BQ15-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6W2J9-1", "uniprot_id": "BCOR_HUMAN", "mass": 192189.0, "length": 1755, "protein_name": "BCL-6 corepressor", "gene_name": "BCOR", "organism": "Human", "refseq_name": "BCL-6 corepressor isoform a", "refseq_ac": "NP_001116855", "gene_names_uniprotkb": "BCOR; KIAA1575", "gene_names_refseq": "ANOP2; BCOR; MAA2; MCOPS2", "protein_names_uniprotkb": "BCL-6 corepressor; BCoR", "protein_names_refseq": "BCL-6 coreceptor; BCL-6 corepressor isoform a; BCL-6 interacting corepressor; BCL6 interacting corepressor", "tax_id": 9606, "disease": "syndromic microphthalmia 1 (Disease Ontology:DOID:0111799); syndromic microphthalmia 2 (Disease Ontology:DOID:0111809); stomach cancer (Disease Ontology:DOID:10534); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); dental caries (Disease Ontology:DOID:216); stomach carcinoma (Disease Ontology:DOID:5517); cataract (Disease Ontology:DOID:83); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:54880)", "pathway_count": 1, "publication_count": 119, "publication_id_list": "10898795;11237011;11777915;15004558;16115862;16943429;17081983;18280243;18669648;19578371;19608861;19690332;20068230;20068231;20112406;21406692;22387997;23186163;23301498;23481700;23523425;23911289;24714562;24715725;25418920;25576301;25645385;26154972;26375851;26687479;26728094;26811146;26929215;26992070;27397612;27600516;27846572;27862975;27893789;27920218;28063628;28228285;28446606;28832583;28834231;29237092;29242379;29331515;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29731959;29786170;30059200;30315122;30379171;30429286;30620550;30779550;31092671;31154438;31217245;31492838;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34846842;34932366;35051231;35132862;35138101;35254053;35289036;35318648;35513511;35561310;35580925;35705054;36010968;36215666;36241641;36284347;37541260;38253038;38656651;38665916;39062853;39438869;39531497;39534244;40307207;40596516", "class_list": "", "function": "A new fusion was observed between BCOR (encoding the BCL6 co-repressor) and CCNB3 (encoding the testis-specific cyclin B3) on the X chromosome. Publication Status: Online-Only, [RefSeq, PubMed]; A novel t(X;21)(p11.4;q22.12) translocation adds to the role of BCOR and RUNX1 in myelodysplastic syndromes and acute myeloid leukemias., [RefSeq, PubMed]; Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants. Publication Status: Online-Only, [RefSeq, PubMed]; Function:BCoR is a transcriptional corepressor for BCL-6. Nomenclature:BCoR (BCL-6 corepressor), [RefSeq, PubMed]; The Combined Immunohistochemical Expression of GLI1 and BCOR in Synovial Sarcomas for the Identification of Three Risk Groups and Their Prognostic Outcomes: A Study of 52 Patients. Publication Status: Online-Only, [RefSeq, PubMed]; The forkhead transcription factor AFX activates apoptosis by induction of the BCL-6 transcriptional repressor., [RefSeq, PubMed]; The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ domain of BCL6, but not with eight other POZ proteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. Several transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome Y.[provided by RefSeq, Jun 2010]., [RefSeq]; Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. Involved in the repression of TFAP2A; impairs binding of BCL6 and KDM2B to TFAP2A promoter regions. Via repression of TFAP2A acts as a negative regulator of osteo-dentiogenic capacity in adult stem cells; the function implies inhibition of methylation on histone H3 'Lys-4' (H3K4me3) and 'Lys-36' (H3K36me2)., [UniProtKB, 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": 17, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 17, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 17, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 131, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "D3DWB3;D3DWB4;Q29RF6;Q6P4B6;Q7Z2K7;Q8TEB4;Q96DB3;Q9H232;Q9H233;Q9HCJ7;Q9NXF2", "ec_number_list": "", "go_molecular_function": "GO:0003714 transcription corepressor activity;GO:0031072 heat shock protein binding;GO:0042826 histone deacetylase binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0140261 BCOR complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0007507 heart development;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "Q6W2J9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P42772-1", "uniprot_id": "CDN2B_HUMAN", "mass": 14722.0, "length": 138, "protein_name": "Cyclin-dependent kinase 4 inhibitor B", "gene_name": "CDKN2B", "organism": "Human", "refseq_name": "cyclin-dependent kinase 4 inhibitor B isoform 1", "refseq_ac": "NP_004927", "gene_names_uniprotkb": "CDKN2B; MTS2", "gene_names_refseq": "CDK4I; CDKN2B; INK4B; MTS2; P15; TP15; p15INK4b", "protein_names_uniprotkb": "Cyclin-dependent kinase 4 inhibitor B; MTS-2; Multiple tumor suppressor 2; p14-INK4b; p15-INK4b; p15INK4B", "protein_names_refseq": "CDK inhibitory protein; CDK4B inhibitor; MTS-2; cyclin-dependent kinase 4 inhibitor B isoform 1; cyclin-dependent kinase 4 inhibitor B; cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4); cyclin-dependent kinases 4 and 6 binding protein; multiple tumor suppressor 2; p14-INK4b; p14_CDK inhibitor; p14_INK4B; p15 CDK inhibitor; p15-INK4b; p15_INK4B", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); primary cutaneous T-cell non-Hodgkin lymphoma (Disease Ontology:DOID:0060061); acute promyelocytic leukemia (Disease Ontology:DOID:0060318); chronic myelomonocytic leukemia (Disease Ontology:DOID:0080188); prostate cancer (Disease Ontology:DOID:10283); open-angle glaucoma (Disease Ontology:DOID:1067); urinary bladder cancer (Disease Ontology:DOID:11054); endometrial cancer (Disease Ontology:DOID:1380); squamous cell carcinoma (Disease Ontology:DOID:1749); transitional cell carcinoma (Disease Ontology:DOID:2671); granulosa cell tumor (Disease Ontology:DOID:2999); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); renal cell carcinoma (Disease Ontology:DOID:4450); erythema infectiosum (Disease Ontology:DOID:8743); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:1030); (R-HSA-2173796); (R-HSA-2559580); (R-HSA-2559582); (R-HSA-2559585); (R-HSA-69231)", "pathway_count": 6, "publication_count": 195, "publication_id_list": "10022869;10199400;10207050;10347217;10358095;10385618;10432220;10499802;10548110;10722742;10772813;10831586;10871633;10892805;11007770;11013220;11032757;11073976;11114305;11157749;11231573;11234019;11274402;11340163;11416152;11424093;11427533;11564866;11719808;11782450;11883935;11884610;12134156;12150994;12189133;12193592;12421820;12435631;12435635;12444543;12446674;12808055;12832467;12917425;13130464;1423597;14507994;14517297;14532106;14597415;14657019;14679213;14729966;15100235;15150273;15287722;15563468;15572696;15579463;15774718;15866172;16186825;16195327;16211008;16278212;16319104;16337592;16436515;16626623;16782892;16826196;17092340;17210787;17254966;17254967;17254968;17255097;17332741;17344414;17395714;17438144;17765224;17825402;17875933;17908796;18267069;1828392;1828393;1828394;18365017;18411265;18414028;18555777;18555778;18568018;18710949;18793328;18827403;19075005;19451217;19451218;19458076;19462008;19487459;19528227;19805069;19914168;20107323;20351173;20452968;20534573;20595680;20663872;20843055;20952511;21423214;21715330;2183031;21979375;21986495;22020331;22178396;22275377;22325352;22336108;22634325;22683641;23007395;23622515;23737759;23846687;2405250;24515438;24706756;24876129;25733683;30711375;31543423;31936902;37314514;37482988;37845622;38265748;38925973;7535770;7588608;7588633;7797074;7816143;7859739;7882351;7954814;8001816;8078588;8114739;8139570;8153634;8234276;8246996;8259215;8319905;8336704;8384717;8413215;8413306;8497257;8552081;8617720;8622669;8622688;8626550;8688489;8741839;8774846;8846784;8884985;8939459;8974401;9030721;9042862;9106657;9144196;9162092;9190208;9195981;9230210;9325318;9447971;9448290;9508775;9529249;9564042;9628874;9768359;9824166", "class_list": "", "function": "Association of CDKN2A/B mutations, PD-1, and PD-L1 with the risk of acute lymphoblastic leukemia in children., [RefSeq, PubMed]; CDKN2A/B deletion in IDH-mutant astrocytomas: An evaluation by Fluorescence in-situ hybridization. Erratum:[J Neurooncol. 2024 Mar;167(1):199. doi: 10.1007/s11060-024-04597-3. PMID: 38358407], [RefSeq, PubMed]; Evaluation of rs10811661 polymorphism in CDKN2A / B in colon and gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Expression analysis of cytoskeleton regulator RNA and Cyclin Dependent Kinase Inhibitor 2B genes in breast cancer., [RefSeq, PubMed]; Frequent CDKN2B/P15 and DAPK1 methylation in duodenal follicular lymphoma is related to duodenal reactive lymphoid hyperplasia., [RefSeq, PubMed]; Interacts strongly with CDK4 and CDK6. Potent inhibitor. Potential effector of TGF-beta induced cell cycle arrest., [UniProtKB]; This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [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": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 17, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O15125;Q6FI09", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0030219 megakaryocyte differentiation;GO:0031670 cellular response to nutrient;GO:0008285 negative regulation of cell population proliferation;GO:0050680 negative regulation of epithelial cell proliferation;GO:0007179 transforming growth factor beta receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 19.6, "record_id": "P42772-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75398-1", "uniprot_id": "DEAF1_HUMAN", "mass": 59327.0, "length": 565, "protein_name": "Deformed epidermal autoregulatory factor 1 homolog", "gene_name": "DEAF1", "organism": "Human", "refseq_name": "deformed epidermal autoregulatory factor 1 homolog isoform b", "refseq_ac": "NP_001280563", "gene_names_uniprotkb": "DEAF1; SPN; ZMYND5", "gene_names_refseq": "DEAF1; MRD24; NEDHELS; NUDR; SPN; VSVS; ZMYND5", "protein_names_uniprotkb": "Deformed epidermal autoregulatory factor 1 homolog; NUDR; Nuclear DEAF-1-related transcriptional regulator; Suppressin; Zinc finger MYND domain-containing protein 5", "protein_names_refseq": "deformed epidermal autoregulatory factor 1 homolog isoform b; deformed epidermal autoregulatory factor 1 homolog; nuclear DEAF-1-related transcriptional regulator; suppressin; zinc finger MYND domain-containing protein 5", "tax_id": 9606, "disease": "Vulto-van Silfout-de Vries syndrome (Disease Ontology:DOID:0070054); intellectual disability-epilepsy-extrapyramidal syndrome (MONDO:MONDO:0014952)", "pathway": " (hsa:10522)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "10521432;11237011;11427895;11705868;12816978;15302935;16527309;18286714;18826651;19413330;19668219;21076407;22442688;23186163;23372760;24668509;24726472;26048982;26992070;28832583;28834231;29557506;31217245;31844290;32157095;33705764;33912179;33981976;34019948;34171305;35318648;36010968;37958600;38665916;9773984", "class_list": "", "function": "De novo variants of DEAF1 cause intellectual disability in six Chinese patients., [RefSeq, PubMed]; Lower peripheral tissue antigens (PTA) expression resulting from the alternative splicing of DEAF1 may contribute to the pathogenesis of type 1 diabetes., [RefSeq, PubMed]; The spn gene was mutated in the primary CRC, the expression of SPN was primarily cytoplasmic in nonmucinous CRCs and nuclear in mucinous CRCs., [RefSeq, PubMed]; This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]., [RefSeq]; Transcription factor that binds to sequence with multiple copies of 5'-TTC[CG]G-3' present in its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE) 5'-AGGGTTCACCGAAAGTTCA-3'. Activates the proenkephalin gene independently of promoter binding, probably through protein-protein interaction. When secreted, behaves as an inhibitor of cell proliferation, by arresting cells in the G0 or G1 phase. Required for neural tube closure and skeletal patterning. Regulates epithelial cell proliferation and side-branching in the mammary gland. Controls the expression of peripheral tissue antigens in pancreatic lymph nodes. Isoform 1 displays greater transcriptional activity than isoform 4. Isoform 4 may inhibit transcriptional activity of isoform 1 by interacting with isoform 1 and retaining it in the cytoplasm. Transcriptional activator of EIF4G3., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Transcriptional Regulation of the Human 5-HT1A Receptor Gene by Lithium: Role of Deaf1 and GSK3beta. 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": 5, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 20, "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": "A8K1F8;A8K5R8;C7T5V5;O15152;O75399;O75510;O75511;O75512;O75513;Q9UET1", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0001650 fibrillar center", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008542 visual learning;GO:0045892 negative regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "O75398-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQS7-1", "uniprot_id": "INCE_HUMAN", "mass": 105429.0, "length": 918, "protein_name": "Inner centromere protein", "gene_name": "INCENP", "organism": "Human", "refseq_name": "inner centromere protein isoform 1", "refseq_ac": "NP_001035784", "gene_names_uniprotkb": "INCENP", "gene_names_refseq": "INCENP", "protein_names_uniprotkb": "Inner centromere protein", "protein_names_refseq": "binds and activates aurora-B and -C in vivo and in vitro; chromosomal passenger protein; inner centromere protein INCENP; inner centromere protein antigens 135/155kDa; inner centromere protein isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:3619); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-4615885); (R-HSA-5663220); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 9, "publication_count": 208, "publication_id_list": "10.1101/2023.09.13.557529;10411507;10600384;10678165;10759568;10862613;10958683;11081627;11139336;11181178;11237011;11371342;11453556;11509732;11535616;11709553;11804586;12006501;12149243;12194817;12429848;12577064;12679384;12732141;12805219;12832072;12852857;12925766;14610074;14730319;15006353;15085137;15249581;15316025;15339662;15507212;15723797;15737063;15864301;15866170;15931174;15944396;15989970;16292343;16378098;16439214;16541025;16571674;16622419;16622420;16682347;16760428;16764853;16890222;16943183;17030981;17081983;17112726;17113138;17129783;17183683;17196341;17198702;1737036;17547437;17924679;17956729;18001770;18097444;18212344;18220336;18381449;18394993;18669648;18691976;18716626;18923426;18946085;19007248;19350017;19369195;19413330;19415658;19596686;19651622;19664995;19690332;19691289;19696148;19815554;19965387;20030946;20068230;20068231;20101212;20112406;20562864;20591975;20663916;21111234;21148482;21167178;21225229;21346195;21397845;21406692;21554500;21576392;21868368;21878504;21987589;22024163;22094460;22275430;22457066;22464730;22608513;22790947;22885700;22920039;23186163;23222643;23481700;23801653;24366607;24714562;24715725;24782567;24914801;25114211;25218447;25418920;25576301;25645385;25740311;25789526;26154972;26375851;26811146;26992070;27332895;27397612;27512725;27600516;27846572;27920218;28063628;28218747;28228285;28352266;28832583;28834231;28855257;28904123;29237092;29242379;29331515;29393594;29437277;29508533;29557506;29632046;29786170;29789417;30315122;30379171;30429286;30484775;31217245;31320618;31409757;31492838;31601613;31844290;32157095;32245944;32265295;32350084;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33936100;33968037;34087483;34171305;34260926;34561969;35051231;35254053;35561310;35580925;36010968;36284347;36326488;37031675;40307207;40596516;9649308;9649503;9864353;9892021", "class_list": "", "function": "Component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Acts as a scaffold regulating CPC localization and activity. The C-terminus associates with AURKB or AURKC, the N-terminus associated with BIRC5/survivin and CDCA8/borealin tethers the CPC to the inner centromere, and the microtubule binding activity within the central SAH domain directs AURKB/C toward substrates near microtubules (PubMed:12925766, PubMed:15316025, PubMed:27332895). The flexibility of the SAH domain is proposed to allow AURKB/C to follow substrates on dynamic microtubules while ensuring CPC docking to static chromatin (By similarity). Activates AURKB and AURKC (PubMed:27332895). Required for localization of CBX5 to mitotic centromeres (PubMed:21346195). Controls the kinetochore localization of BUB1 (PubMed:16760428)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Computational study of the potential impact of AURKC missense SNPs on AURKC-INCENP interaction and their correlation to macrozoospermia., [RefSeq, PubMed]; High Inner Centromere Protein Expression Correlates with Aggressive Features and Predicts Poor Prognosis in Patients with Invasive Breast Cancer., [RefSeq, PubMed]; In mammalian cells, 2 broad groups of centromere-interacting proteins have been described: constitutively binding centromere proteins and 'passenger,' or transiently interacting, proteins (reviewed by Choo, 1997). The constitutive proteins include CENPA (centromere protein A; MIM 117139), CENPB (MIM 117140), CENPC1 (MIM 117141), and CENPD (MIM 117142). The term 'passenger proteins' encompasses a broad collection of proteins that localize to the centromere during specific stages of the cell cycle (Earnshaw and Mackay, 1994 [PubMed 8088460]). These include CENPE (MIM 117143); MCAK (MIM 604538); KID (MIM 603213); cytoplasmic dynein (e.g., MIM 600112); CliPs (e.g., MIM 179838); and CENPF/mitosin (MIM 600236). The inner centromere proteins (INCENPs) (Earnshaw and Cooke, 1991 [PubMed 1860899]), the initial members of the passenger protein group, display a broad localization along chromosomes in the early stages of mitosis but gradually become concentrated at centromeres as the cell cycle progresses into mid-metaphase. During telophase, the proteins are located within the midbody in the intercellular bridge, where they are discarded after cytokinesis (Cutts et al., 1999 [PubMed 10369859]).[supplied by OMIM, Mar 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": 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": 89, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8MQD2;Q5Y192", "ec_number_list": "", "go_molecular_function": "GO:0140677 molecular function activator activity", "go_cellular_component": "GO:0000801 central element;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:0051310 metaphase chromosome alignment;GO:0000278 mitotic cell cycle;GO:0007059 chromosome segregation;GO:0090307 mitotic spindle assembly;GO:0000281 mitotic cytokinesis", "synthesized_glycan_count": 0, "hit_score": 21.6, "record_id": "Q9NQS7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15051-1", "uniprot_id": "IQCB1_HUMAN", "mass": 68929.0, "length": 598, "protein_name": "IQ calmodulin-binding motif-containing protein 1", "gene_name": "IQCB1", "organism": "Human", "refseq_name": "IQ calmodulin-binding motif-containing protein 1 isoform a", "refseq_ac": "NP_001018864", "gene_names_uniprotkb": "IQCB1; KIAA0036; NPHP5; SW-cl.85", "gene_names_refseq": "IQCB1; NPHP5; PIQ; SLSN5", "protein_names_uniprotkb": "IQ calmodulin-binding motif-containing protein 1; Nephrocystin-5; PIQ; p53 and DNA damage-regulated IQ motif protein", "protein_names_refseq": "IQ calmodulin-binding motif-containing protein 1 isoform a; IQ calmodulin-binding motif-containing protein 1; nephrocystin 5; p53 and DNA damage-regulated IQ motif protein", "tax_id": 9606, "disease": "Senior-Loken syndrome (Disease Ontology:DOID:0050576); Senior-Loken syndrome 5 (Disease Ontology:DOID:0061279); Leber congenital amaurosis 10 (Disease Ontology:DOID:0110291); retinitis pigmentosa 3 (Disease Ontology:DOID:0110414); nephronophthisis (Disease Ontology:DOID:12712); Leber congenital amaurosis (Disease Ontology:DOID:14791)", "pathway": " (hsa:9657); (R-HSA-5620912)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "11237011;15723066;16322217;16357211;17574030;17646400;17719545;18037885;18669648;18691976;18694559;18723859;18801063;19004860;19081074;19651622;19940019;20068231;20230748;20308558;20399632;20558667;21273506;21422230;21548880;21565611;21620453;21725307;21792235;22179047;22424782;22433857;22645359;22653444;23141531;23141541;23253480;23348840;23400999;23446637;23481700;23530209;23747070;23769972;23789104;24053599;24089205;24231678;24366607;24469809;24715725;24982133;25047611;25313408;25552655;25576301;26154972;26375851;26992070;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;30315122;30410026;30429286;30524438;31154438;31217245;31844290;31848261;31937595;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33633747;33717175;33912179;33936100;33968037;34185709;34211107;34509645;35051231;35318648;35561310;35580925;36241641;38522724", "class_list": "", "function": "IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History., [RefSeq, PubMed]; Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6 (PubMed:21565611, PubMed:23446637). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2 and BBS5 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating CEP290/NPHP6 (PubMed:25552655)., [UniProtKB, PubMed, PubMed]; Nephrocystin-5, RPGR and calmodulin can be coimmunoprecipitated from retinal extracts, and that these proteins localize to connecting cilia of photoreceptors and to primary cilia of renal epithelial cells, [RefSeq, PubMed]; This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [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": 8, "reported_mutagensis": 1, "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": "Q3KS08;Q3KS09;Q5DKQ7;Q8NI79;Q9BS08", "ec_number_list": "", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0019899 enzyme binding;GO:0030674 protein-macromolecule adaptor activity;GO:0062063 BBSome binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005929 cilium;GO:0070062 extracellular exosome;GO:0005814 centriole", "go_biological_process": "GO:0048496 maintenance of animal organ identity;GO:0045494 photoreceptor cell maintenance;GO:0060271 cilium assembly;GO:1904491 protein localization to ciliary transition zone;GO:0061824 cytosolic ciliogenesis", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q15051-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NHM5-1", "uniprot_id": "KDM2B_HUMAN", "mass": 152615.0, "length": 1336, "protein_name": "Lysine-specific demethylase 2B", "gene_name": "KDM2B", "organism": "Human", "refseq_name": "lysine-specific demethylase 2B isoform 2", "refseq_ac": "NP_001005366", "gene_names_uniprotkb": "KDM2B; CXXC2; FBL10; FBXL10; JHDM1B; NDY1; PCCX2", "gene_names_refseq": "CXXC2; FBXL10; Fbl10; JHDM1B; KDM2B; NEDCRO; PCCX2", "protein_names_uniprotkb": "Lysine-specific demethylase 2B; 1.14.11.27; CXXC-type zinc finger protein 2; F-box and leucine-rich repeat protein 10; F-box protein FBL10; F-box/LRR-repeat protein 10; JmjC domain-containing histone demethylation protein 1B; Jumonji domain-containing EMSY-interactor methyltransferase motif protein; Protein JEMMA; Protein-containing CXXC domain 2; [Histone-H3]-lysine-36 demethylase 1B", "protein_names_refseq": "CXXC-type zinc finger protein 2; F-box and leucine-rich repeat protein 10; F-box protein FBL10; F-box/LRR-repeat protein 10; JEMMA (Jumonji domain, EMSY-interactor, methyltransferase motif) protein; [Histone-H3]-lysine-36 demethylase 1B; jmjC domain-containing histone demethylation protein 1B; jumonji C domain-containing histone demethylase 1B; lysine (K)-specific demethylase 2B; lysine-specific demethylase 2B isoform 2; protein-containing CXXC domain 2", "tax_id": 9606, "disease": "neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities (Disease Ontology:DOID:0070694); T-cell non-Hodgkin lymphoma (Disease Ontology:DOID:0081312); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:84678); (R-HSA-3214842)", "pathway_count": 2, "publication_count": 123, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15302935;15620353;16362057;16603237;16603238;16732292;16732293;16738407;17310255;17320163;17351631;17672918;17713478;17924679;17947579;17994099;18452278;18669648;19413330;19502796;19651622;19664994;19664995;19690332;19727073;19843542;20023638;20068231;20084082;20129925;20208542;20457893;20622853;20622854;21406692;21532585;22615488;23186163;23481700;24714562;24715725;25218447;25548167;25576301;25755297;25772364;25892735;26154972;26237645;26375851;26728094;26811146;26992070;27568929;27600516;27846572;27920218;28121444;28218747;28228285;28649982;28832583;28855257;28904123;29242379;29276034;29393594;29437277;29493099;29508533;29557506;29563586;29632046;29632711;29769354;29786170;29789417;30033217;30315122;30379171;30410026;30524438;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;34078123;34087483;34171305;34211107;34433824;34509645;34561969;34932366;35051231;35580925;36322151;36581221;37634866;37751135;37935302;38017132;39079086;40420380", "class_list": "", "function": "Biological Functions of the KDM2 Family of Histone Demethylases., [RefSeq, PubMed]; DNA methylation near MAD1L1, KDM2B, and SOCS3 mediates the effect of socioeconomic status on elevated body mass index in African American adults., [RefSeq, PubMed]; Histone demethylase that demethylates 'Lys-4' and 'Lys-36' of histone H3, thereby playing a central role in histone code (PubMed:16362057, PubMed:17994099, PubMed:26237645). Preferentially demethylates trimethylated H3 'Lys-4' and dimethylated H3 'Lys-36' residue while it has weak or no activity for mono- and tri-methylated H3 'Lys-36' (PubMed:16362057, PubMed:17994099, PubMed:26237645). Preferentially binds the transcribed region of ribosomal RNA and represses the transcription of ribosomal RNA genes which inhibits cell growth and proliferation (PubMed:16362057, PubMed:17994099). May also serve as a substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex (Probable)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; KDM2B-Rearranged Soft Tissue Sarcomas Expand the Concept of BCOR-Associated Sarcoma., [RefSeq, PubMed]; The DNA/RNA helicase DHX9 orchestrates the KDM2B-mediated transcriptional regulation of YAP1 in Ewing sarcoma., [RefSeq, PubMed]; This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional regulation of amino acid metabolism by KDM2B, in the context of ncPRC1.1 and in concert with MYC and ATF4., [RefSeq, PubMed]; Validated occurrence of an unusual TG 3' splice site in intron 15, [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": 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": 22, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8MRS1;Q1RLM7;Q8NCI2;Q96HC7;Q96SL0;Q96T03;Q9NS96;Q9UF75", "ec_number_list": "1.14.11.69;1.14.11.66;1.14.11.27;1.14.11.79", "go_molecular_function": "GO:0051864 histone H3K36 demethylase activity;GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0019843 rRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000785 chromatin;GO:0031519 PcG protein complex", "go_biological_process": "GO:0021555 midbrain-hindbrain boundary morphogenesis;GO:0021592 fourth ventricle development;GO:0021993 initiation of neural tube closure;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q8NHM5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43586-1", "uniprot_id": "PPIP1_HUMAN", "mass": 47591.0, "length": 416, "protein_name": "Proline-serine-threonine phosphatase-interacting protein 1", "gene_name": "PSTPIP1", "organism": "Human", "refseq_name": "proline-serine-threonine phosphatase-interacting protein 1 isoform 2", "refseq_ac": "NP_001308064", "gene_names_uniprotkb": "PSTPIP1; CD2BP1", "gene_names_refseq": "AICZC; CD2BP1L; CD2BP1S; CD2BP1; H-PIP; PAPAS; PAPA; PSTPIP1; PSTPIP", "protein_names_uniprotkb": "Proline-serine-threonine phosphatase-interacting protein 1; CD2-binding protein 1; H-PIP; PEST phosphatase-interacting protein 1", "protein_names_refseq": "CD2 antigen-binding protein 1; CD2 cytoplasmic tail-binding protein; CD2-binding protein 1; PEST phosphatase-interacting protein 1; proline-serine-threonine phosphatase-interacting protein 1 isoform 2", "tax_id": 9606, "disease": "autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia (Disease Ontology:DOID:0061185); PAPA syndrome (Disease Ontology:DOID:0080519)", "pathway": " (hsa:9051); (R-HSA-844456); (R-HSA-9660826)", "pathway_count": 3, "publication_count": 59, "publication_id_list": "11157473;11163214;11237011;11313357;11498534;11786556;11967258;11971877;12191486;12615073;14595024;14761955;17036048;17349957;17435760;17603038;17703304;17964261;18480402;19054851;19109554;19570822;19584923;19807924;20023662;20303873;2182768;22161697;23817414;23878142;26025129;26116704;26549800;26992070;28251506;28628471;28904123;29150835;29493099;29557506;29712950;30198636;30379171;31844290;32350084;32387766;32983136;34047005;34938582;35051231;35580925;36203570;36692132;37013170;37628706;40914422;450099;9023774;9857189", "class_list": "", "function": "CD2BP1-mediated biochemical pathway(s) may function in common inflammatory disorders with apparent etiological overlap, such as rheumatoid arthritis and inflammatory bowel disease, [RefSeq, PubMed]; Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype., [RefSeq, PubMed]; Involved in regulation of the actin cytoskeleton. May regulate WAS actin-bundling activity. Bridges the interaction between ABL1 and PTPN18 leading to ABL1 dephosphorylation. May play a role as a scaffold protein between PTPN12 and WAS and allow PTPN12 to dephosphorylate WAS. Has the potential to physically couple CD2 and CD2AP to WAS. Acts downstream of CD2 and CD2AP to recruit WAS to the T-cell:APC contact site so as to promote the actin polymerization required for synapse induction during T-cell activation (By similarity). Down-regulates CD2-stimulated adhesion through the coupling of PTPN12 to CD2. Also has a role in innate immunity and the inflammatory response. Recruited to inflammasomes by MEFV. Induces formation of pyroptosomes, large supramolecular structures composed of oligomerized PYCARD dimers which form prior to inflammatory apoptosis. Binding to MEFV allows MEFV to bind to PYCARD and facilitates pyroptosome formation. Regulates endocytosis and cell migration in neutrophils., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review. Publication Status: Online-Only, [RefSeq, PubMed]; Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa. Publication Status: Online-Only, [RefSeq, PubMed]; Strong inflammatory signatures in the neutrophils of PAMI syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cytoskeletal protein that is highly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal organization and inflammatory processes. It binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, downregulating CD2-triggered adhesion. It binds PEST-type protein tyrosine phosphatases (PTP) and directs them to c-Abl kinase to mediate c-Abl dephosphorylation, thereby, regulating c-Abl activity. It also interacts with pyrin, which is found in association with the cytoskeleton in myeloid/monocytic cells and modulates immunoregulatory functions. Mutations in this gene are associated with PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) syndrome. It is hypothesized that the disease-causing mutations compromise physiologic signaling necessary for the maintenance of a proper inflammatory response. [provided by RefSeq, Mar 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": 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": 3, "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": "B5BU74;B5BUK4;O43585;O95657", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0006954 inflammatory response;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "O43586-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NZS9-1", "uniprot_id": "BFAR_HUMAN", "mass": 52738.0, "length": 450, "protein_name": "Bifunctional apoptosis regulator", "gene_name": "BFAR", "organism": "Human", "refseq_name": "bifunctional apoptosis regulator isoform 1", "refseq_ac": "NP_057645", "gene_names_uniprotkb": "BFAR; BAR; RNF47", "gene_names_refseq": "BAR; BFAR; RNF47", "protein_names_uniprotkb": "Bifunctional apoptosis regulator; 2.3.2.27; RING finger protein 47", "protein_names_refseq": "RING finger protein 47; bifunctional apoptosis inhibitor; bifunctional apoptosis regulator isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51283)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "10.1101/2023.09.13.557529;10716992;11237011;14502241;18805781;20523265;21068390;22566094;23481700;24714562;24715725;25418920;25576301;25589627;25645385;26154972;26811146;26929215;26992070;27058226;27600516;27846572;27920218;28218747;28228285;28832583;28904123;29093164;29242379;29437277;29557506;30315122;31217245;31530632;31844290;32157095;32161166;32350084;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33914044;33936100;33968037;33981976;34171305;34175335;34211107;34405274;34509645;35051231;35251023;35561310;35580925;36010968;37938771;38294943", "class_list": "", "function": "BFAR coordinates TGFbeta signaling to modulate Th9-mediated cancer immunotherapy., [RefSeq, PubMed]; Membrane-bound E3 ubiquitin ligase that plays a role in several processes including apoptosis regulation or reticulum endoplasmic stress (PubMed:14502241, PubMed:21068390). Has anti-apoptotic activity, both for apoptosis triggered via death-receptors and via mitochondrial factors (PubMed:14502241). Contributes to the dynamic control of IRE1/ERN1 signaling during ER stress by inducing BAX inhibitor 1/TMBIM6 proteasomal degradation (PubMed:21068390). Promotes the activation of TGF-beta signaling by mediating the 'Lys-63'-linked ubiquitination of TGFBR1 which is critical to activate the pathway (PubMed:33914044). Together with NGFR, negatively regulates NF-kappa-B and JNK-related signaling pathways (PubMed:22566094). Promotes the proteasome-mediated degradation of PNPLA3, a protein involveld in lipid metabolism (PubMed:38294943)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Over-expression of BFAR Delta RING renders the heart more resistant to I/R injury and DOX-induced cardiotoxicity, and this protection correlates with reduced cardiomyocyte apoptosis., [RefSeq, PubMed]; The periphilin 1-like BFAR isoform 3 is highly expressed in transcriptionally silent oocytes and involved in RNA metabolism., [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": 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": "A8K4Z9;B4DUT0;D3DUG8", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0030674 protein-macromolecule adaptor activity;GO:0061630 ubiquitin protein ligase activity;GO:0089720 caspase binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9NZS9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HB09-1", "uniprot_id": "B2L12_HUMAN", "mass": 26908.0, "length": 250, "protein_name": "Bcl-2-like protein 12", "gene_name": "BCL2L12", "organism": "Human", "refseq_name": "bcl-2-like protein 12 isoform 6", "refseq_ac": "NP_001269449", "gene_names_uniprotkb": "BCL2L12; BPR", "gene_names_refseq": "BCL2L12", "protein_names_uniprotkb": "Bcl-2-like protein 12; Bcl-2-related proline-rich protein; Bcl2-L-12", "protein_names_refseq": "BCL2-like 12 (proline rich); Bcl-2 related proline-rich protein; bcl-2-like protein 12 isoform 6; bcl-2-like protein 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:83596)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;11401436;12783122;14759258;15493871;18669648;20068231;21406692;22664385;23186163;24129315;26728094;27600516;28228285;28832583;29485866;29508533;29786170;30833945;31222486;31530632;34116211;34116684", "class_list": "", "function": "Interaction between Ras and Bcl2L12 in B cells suppresses IL-10 expression., [RefSeq, PubMed]; MiR-24-3p attenuates IL-1beta-induced chondrocyte injury associated with osteoarthritis by targeting BCL2L12. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular cloning of novel alternatively spliced variants of BCL2L12, a new member of the BCL2 gene family, and their expression analysis in cancer cells., [RefSeq, PubMed]; RT-PCR in 70 breast cancer tissues demonstrated that BCL2L12 positive breast tumors are mainly of lower stage (I/II) or grade (I/II) and BCL2L12 expression is positively related to disease-free and overall survival, [RefSeq, PubMed]; The BCL2L12-A transcript appears to be of importance for colon cancer since its expression is associated with disease progression., [RefSeq, PubMed]; This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 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": 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": 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": "A0A087WSV0;Q3SY11;Q3SY13;Q96I96;Q9HB08", "ec_number_list": "", "go_molecular_function": "GO:0002039 p53 binding", "go_cellular_component": "GO:0005634 nucleus;GO:0016020 membrane", "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:1902166 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9HB09-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q00839-1", "uniprot_id": "HNRPU_HUMAN", "mass": 90584.0, "length": 825, "protein_name": "Heterogeneous nuclear ribonucleoprotein U", "gene_name": "HNRNPU", "organism": "Human", "refseq_name": "heterogeneous nuclear ribonucleoprotein U isoform b", "refseq_ac": "NP_004492", "gene_names_uniprotkb": "HNRNPU; C1orf199; HNRPU; SAFA; U21.1", "gene_names_refseq": "DEE54; EIEE54; GRIP120; HNRNPU-AS1; HNRNPU; HNRPU; SAF-A; SAFA; U21.1; hnRNP U; pp120", "protein_names_uniprotkb": "Heterogeneous nuclear ribonucleoprotein U; GRIP120; Nuclear p120 ribonucleoprotein; SAF-A; Scaffold-attachment factor A; hnRNP U; p120; pp120", "protein_names_refseq": "HNRNPU antisense RNA 1; heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A); heterogeneous nuclear ribonucleoprotein U isoform b; nuclear p120 ribonucleoprotein; p120 nuclear protein", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 54 (Disease Ontology:DOID:0080418); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:3192); (R-HSA-72163); (R-HSA-72203); (R-HSA-9770562); (R-HSA-9844594); (R-HSA-9918481)", "pathway_count": 6, "publication_count": 335, "publication_id_list": "10.1101/2023.09.13.557529;10490622;10669729;10671544;10882114;11003645;11014198;11060040;11101529;11233976;11237011;11747608;11909954;11991638;12176931;12411573;12414731;12477934;1324173;14519844;14608463;14625303;14654843;14713954;14749727;14762106;15037765;15084397;15563465;15565158;15592455;15711563;1628625;16314458;16809785;16916646;17081983;17095540;17128255;17174306;17287340;17289661;17332742;17487921;17606899;17924679;18082603;18212344;18220336;18288197;18322460;18452278;18491316;18593880;18669648;18691976;19029303;19103666;19165350;19217410;19351595;19413330;19415658;19536130;19608861;19617346;19651622;19664995;19690332;19691289;19808671;20058876;20068230;20068231;20166139;20187088;20305658;20423332;20695905;20858735;20980672;21242313;21295486;21406692;21536652;21740066;2176635;21911577;22110043;22121020;22223895;22325991;22365833;22706990;22813749;22959432;22961380;22967762;23090970;23186163;23222130;23236153;23345524;23481700;23640942;23708187;23783831;23811339;23874216;24076191;24129315;24149845;24196718;24275569;24304693;24316715;24407421;24448447;24714562;24715725;24737827;24914973;24981863;25030905;25114211;25218447;25301780;25301781;25356899;25505266;25555158;25576301;2558966;25616961;25645385;25880248;25892735;25911097;25986610;26030138;26092250;26154972;26244333;26375851;26385511;26420826;26728094;26811146;26853435;26969736;26992070;27108190;27303920;27377154;27452731;27459055;27543614;27600516;27683217;27846572;27862975;27893789;27920218;28062851;28063628;28076346;28096519;28190768;28228285;28502770;28510447;28514659;28622508;28649982;28657654;28781166;28832583;28834231;28855257;28904123;28911096;29186539;29237092;29242379;29274231;29301961;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2963332;29769354;29786170;29789417;29902443;30059200;30139799;30192525;30257008;30315122;30315277;30397120;30410026;30429286;30444036;30484775;30524438;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31154438;31217245;31222486;31373491;31409651;31492838;31530632;31611695;31717259;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32162841;32179686;32329775;32357974;32387766;32488085;32494006;32502341;32522876;32816001;32897882;32938616;32983136;33043033;33091337;33123756;33141586;33177556;33214551;33243851;33298915;33392160;33446560;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34301950;34357683;34509645;34561969;34725712;34822310;34846842;34932366;35008409;35051231;35083852;35132862;35177536;35215846;35251023;35254053;35289036;35318648;35385551;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37217939;3757028;37938771;37984724;37993881;38279497;38369277;38400886;38665916;38838015;39534244;39990658;40307207;40596516;40914422;41018975;7509195;7753047;7993898;8068679;8174554;8352591;8566756;8608946;9016565;9105675;9204873;9242493;9353307;9405365;9409616;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "(Microbial infection) Negatively regulates immunodeficiency virus type 1 (HIV-1) replication by preventing the accumulation of viral mRNA transcripts in the cytoplasm., [UniProtKB, PubMed]; Circ-hnRNPU inhibits NONO-mediated c-Myc transactivation and mRNA stabilization essential for glycosylation and cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; Circular RNA CircSLC22A23 Promotes Gastric Cancer Progression by Activating HNRNPU Expression., [RefSeq, PubMed]; DNA- and RNA-binding protein involved in several cellular processes such as nuclear chromatin organization, telomere-length regulation, transcription, mRNA alternative splicing and stability, Xist-mediated transcriptional silencing and mitotic cell progression (PubMed:10490622, PubMed:18082603, PubMed:19029303, PubMed:22325991, PubMed:25986610, PubMed:28622508). Plays a role in the regulation of interphase large-scale gene-rich chromatin organization through chromatin-associated RNAs (caRNAs) in a transcription-dependent manner, and thereby maintains genomic stability (PubMed:1324173, PubMed:28622508, PubMed:8174554). Required for the localization of the long non-coding Xist RNA on the inactive chromosome X (Xi) and the subsequent initiation and maintenance of X-linked transcriptional gene silencing during X-inactivation (By similarity). Plays a role as a RNA polymerase II (Pol II) holoenzyme transcription regulator (PubMed:10490622, PubMed:15711563, PubMed:19617346, PubMed:23811339, PubMed:8174554, PubMed:9353307). Promotes transcription initiation by direct association with the core-TFIIH basal transcription factor complex for the assembly of a functional pre-initiation complex with Pol II in a actin-dependent manner (PubMed:10490622, PubMed:15711563). Blocks Pol II transcription elongation activity by inhibiting the C-terminal domain (CTD) phosphorylation of Pol II and dissociates from Pol II pre-initiation complex prior to productive transcription elongation (PubMed:10490622). Positively regulates CBX5-induced transcriptional gene silencing and retention of CBX5 in the nucleus (PubMed:19617346). Negatively regulates glucocorticoid-mediated transcriptional activation (PubMed:9353307). Key regulator of transcription initiation and elongation in embryonic stem cells upon leukemia inhibitory factor (LIF) signaling (By similarity). Involved in the long non-coding RNA H19-mediated Pol II transcriptional repression (PubMed:23811339). Participates in the circadian regulation of the core clock component BMAL1 transcription (By similarity). Plays a role in the regulation of telomere length (PubMed:18082603). Plays a role as a global pre-mRNA alternative splicing modulator by regulating U2 small nuclear ribonucleoprotein (snRNP) biogenesis (PubMed:22325991). Plays a role in mRNA stability (PubMed:17174306, PubMed:17289661, PubMed:19029303). Component of the CRD-mediated complex that promotes MYC mRNA stabilization (PubMed:19029303). Enhances the expression of specific genes, such as tumor necrosis factor TNFA, by regulating mRNA stability, possibly through binding to the 3'-untranslated region (UTR) (PubMed:17174306). Plays a role in mitotic cell cycle regulation (PubMed:21242313, PubMed:25986610). Involved in the formation of stable mitotic spindle microtubules (MTs) attachment to kinetochore, spindle organization and chromosome congression (PubMed:21242313). Phosphorylation at Ser-59 by PLK1 is required for chromosome alignement and segregation and progression through mitosis (PubMed:25986610). Also contributes to the targeting of AURKA to mitotic spindle MTs (PubMed:21242313). Binds to double- and single-stranded DNA and RNA, poly(A), poly(C) and poly(G) oligoribonucleotides (PubMed:1628625, PubMed:8068679, PubMed:8174554, PubMed:9204873, PubMed:9405365). Binds to chromatin-associated RNAs (caRNAs) (PubMed:28622508). Associates with chromatin to scaffold/matrix attachment region (S/MAR) elements in a chromatin-associated RNAs (caRNAs)-dependent manner (PubMed:10671544, PubMed:11003645, PubMed:11909954, PubMed:1324173, PubMed:28622508, PubMed:7509195, PubMed:9204873, PubMed:9405365). Binds to the Xist RNA (PubMed:26244333). Binds the long non-coding H19 RNA (PubMed:23811339). Binds to SMN1/2 pre-mRNAs at G/U-rich regions (PubMed:22325991). Binds to small nuclear RNAs (snRNAs) (PubMed:22325991). Binds to the 3'-UTR of TNFA mRNA (PubMed:17174306). Binds (via RNA-binding RGG-box region) to the long non-coding Xist RNA; this binding is direct and bridges the Xist RNA and the inactive chromosome X (Xi) (By similarity). Also negatively regulates embryonic stem cell differentiation upon LIF signaling (By similarity). Required for embryonic development (By similarity). Binds to brown fat long non-coding RNA 1 (Blnc1); facilitates the recruitment of Blnc1 by ZBTB7B required to drive brown and beige fat development and thermogenesis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; ITGA9-AS1 up-regulates ITGA9 by targeting miR-4765 and recruiting HNRNPU to affect the proliferation and apoptosis of non-small cell lung cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; RNA Binding Proteins that Mediate LPS-induced Alternative Splicing of the MyD88 Innate Immune Regulator., [RefSeq, PubMed]; RNA-binding protein hnRNPU regulates multiple myeloma resistance to selinexor., [RefSeq, PubMed]; This gene encodes a member of a family of proteins that bind nucleic acids and function in the formation of ribonucleoprotein complexes in the nucleus with heterogeneous nuclear RNA (hnRNA). The encoded protein has affinity for both RNA and DNA, and binds scaffold-attached region (SAR) DNA. Mutations in this gene have been associated with epileptic encephalopathy, early infantile, 54. A pseudogene of this gene has been identified on chromosome 14. [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 23, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "O75507;Q8N174;Q96HY9;Q9BQ09", "ec_number_list": "", "go_molecular_function": "GO:0036002 pre-mRNA binding;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0003779 actin binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0070934 CRD-mediated mRNA stabilization;GO:2000373 positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity;GO:2000648 positive regulation of stem cell proliferation;GO:2000767 positive regulation of cytoplasmic translation;GO:0060816 random inactivation of X chromosome", "synthesized_glycan_count": 0, "hit_score": 34.8, "record_id": "Q00839-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P15036-1", "uniprot_id": "ETS2_HUMAN", "mass": 53001.0, "length": 469, "protein_name": "Protein C-ets-2", "gene_name": "ETS2", "organism": "Human", "refseq_name": "protein C-ets-2 isoform 1", "refseq_ac": "NP_005230", "gene_names_uniprotkb": "ETS2", "gene_names_refseq": "ETS2IT1; ETS2", "protein_names_uniprotkb": "Protein C-ets-2", "protein_names_refseq": "oncogene ETS-2; protein C-ets-2 isoform 1; protein C-ets-2; v-ets avian erythroblastosis virus E2 oncogene homolog 2; v-ets avian erythroblastosis virus E26 oncogene homolog 2; v-ets erythroblastosis virus E26 oncogene homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:2114); (R-HSA-2559585)", "pathway_count": 2, "publication_count": 93, "publication_id_list": "10358095;11027273;11234019;11237011;11782450;11883935;11909962;12095911;12511603;14729966;15572696;16211008;17697703;18691976;19182667;20534573;22179046;2250910;22645359;23783831;24029068;24218572;24715725;25418920;25576301;25645385;26024233;26154972;26871468;26992070;27846572;27862975;27920218;28218747;28228285;2847145;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29786170;29789417;2997781;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31530632;31844290;31848261;32157095;32161166;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33912179;33968037;33981976;34087483;34171305;34185709;34509645;34561969;34932366;35051231;35561310;35580925;36241641;36284347;37171262;37892157;37938771;38839969;39019900;39069579;7588608;8552081;9605774;9710599", "class_list": "", "function": "A disease-associated gene desert directs macrophage inflammation through ETS2., [RefSeq, PubMed]; ETS2 promotes cardiomyocyte apoptosis and autophagy in heart failure by regulating lncRNA TUG1/miR-129-5p/ATG7 axis., [RefSeq, PubMed]; ID2-ETS2 axis regulates the transcriptional acquisition of pro-tumoral microglia phenotype in glioma. Publication Status: Online-Only, [RefSeq, PubMed]; NNMT switches the proangiogenic phenotype of cancer-associated fibroblasts via epigenetically regulating ETS2/VEGFA axis., [RefSeq, PubMed]; This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]., [RefSeq]; Transcription factor activating transcription. Binds specifically the DNA GGAA/T core motif (Ets-binding site or EBS) in gene promoters and stimulates transcription., [UniProtKB, PubMed]; USP39-Mediated Non-Proteolytic Control of ETS2 Suppresses Nuclear Localization and Activity. 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": 15, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NM68;D3DSH6;Q53Y89", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0019904 protein domain specific binding;GO:0035259 nuclear glucocorticoid receptor binding;GO:0001227 DNA-binding transcription repressor 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;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "P15036-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15583-1", "uniprot_id": "TGIF1_HUMAN", "mass": 43013.0, "length": 401, "protein_name": "Homeobox protein TGIF1", "gene_name": "TGIF1", "organism": "Human", "refseq_name": "homeobox protein TGIF1 isoform e", "refseq_ac": "NP_001265611", "gene_names_uniprotkb": "TGIF1; TGIF", "gene_names_refseq": "HPE4; TGIF1; TGIF", "protein_names_uniprotkb": "Homeobox protein TGIF1; 5'-TG-3'-interacting factor 1", "protein_names_refseq": "5'-TG-3'-interacting factor 1; TALE homeobox TG-interacting factor; homeobox protein TGIF1 isoform e; homeobox protein TGIF1; transforming growth factor-beta-induced factor", "tax_id": 9606, "disease": "holoprosencephaly 4 (Disease Ontology:DOID:0110880); otitis media (Disease Ontology:DOID:10754); holoprosencephaly (Disease Ontology:DOID:4621); muscular atrophy (Disease Ontology:DOID:767)", "pathway": " (hsa:7050); (R-HSA-2173795); (R-HSA-2173796)", "pathway_count": 3, "publication_count": 91, "publication_id_list": "10022869;10197981;10199400;10485843;10531062;10535941;10549282;10587642;10587654;10764806;10835638;11007770;11013220;11237011;11274402;11389444;11424093;11427533;12150994;12446674;12917425;14657019;15100235;15150273;15221788;15820681;16156666;16278212;16319104;16751101;16751102;17438144;17510063;17591695;17592128;18455519;18568018;19135894;19914168;19917253;20595680;21095583;22045334;22275377;23481700;25576301;25645385;25892735;26992070;27153775;27862975;28832583;28834231;29242379;29493099;29557506;29577978;29632711;29786170;29789417;30060237;30779550;30833945;31154438;31844290;31848261;31936902;32157095;32161166;32387766;32488085;32897882;32938616;32983136;33592498;33936100;33968037;33981976;34019948;34509645;35051231;35318648;35569122;35580925;36010968;36241641;36284347;37716127;38575107;38914217;8537382", "class_list": "", "function": "A detailed description of the TGIF locus characterizing 12 TGIF splice isoforms., [RefSeq, PubMed]; Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter (CRBPII-RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element. Active transcriptional corepressor of SMAD2. Links the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. May participate in the transmission of nuclear signals during development and in the adult, as illustrated by the down-modulation of the RXR alpha activities., [UniProtKB]; Genetic polymorphisms of rs73620203 in the transforming growth interacting factor gene associated with rheumatoid arthritis in a Chinese population., [RefSeq, PubMed]; Inhibition of ERN1 affects the expression of TGIF1 and other homeobox gene expressions in U87MG glioblastoma cells., [RefSeq, PubMed]; TG-interacting factor 1 regulates mitotic clonal expansion during adipocyte differentiation., [RefSeq, PubMed]; TGIF1 overexpression promotes glioma progression and worsens patient prognosis., [RefSeq, PubMed]; The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [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": 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": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NE42;A6NLU7;F8VZB6;Q6ICR0;Q8N5X9;Q9NRS0", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;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:0005654 nucleoplasm;GO:0000785 chromatin", "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": 9.4, "record_id": "Q15583-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N9N8-1", "uniprot_id": "EIF1A_HUMAN", "mass": 19053.0, "length": 165, "protein_name": "Probable RNA-binding protein EIF1AD", "gene_name": "EIF1AD", "organism": "Human", "refseq_name": "probable RNA-binding protein EIF1AD", "refseq_ac": "NP_001229410", "gene_names_uniprotkb": "EIF1AD", "gene_names_refseq": "EIF1AD; OBELIX; haponin", "protein_names_uniprotkb": "Probable RNA-binding protein EIF1AD; Eukaryotic translation initiation factor 1A domain-containing protein; Haponin", "protein_names_refseq": "eukaryotic translation initiation factor 1A domain-containing protein; probable RNA-binding protein EIF1AD", "tax_id": 9606, "disease": "", "pathway": " (hsa:84285)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;16189514;18669648;18767875;19651622;20068231;20644585;22095125;23186163;23301498;24714562;24715725;26728094;26992070;27920218;28228285;28832583;29242379;29393594;29557506;30315122;30429286;30833945;31844290;31848261;32157095;32350084;32502341;32983136;33717175;33912179;33968037;34087483;34171305;35051231;35251023;36284347;40307207", "class_list": "", "function": "Novel protein haponin regulates cellular response to oxidative stress., [RefSeq, PubMed]; Plays a role into cellular response to oxidative stress. Decreases cell proliferation., [UniProtKB, UniProtKB, UniProtKB, 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": 7, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R4N5;Q9BSC1", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003743 translation initiation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q8N9N8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q05209-1", "uniprot_id": "PTN12_HUMAN", "mass": 88106.0, "length": 780, "protein_name": "Tyrosine-protein phosphatase non-receptor type 12", "gene_name": "PTPN12", "organism": "Human", "refseq_name": "tyrosine-protein phosphatase non-receptor type 12 isoform 2", "refseq_ac": "NP_001124480", "gene_names_uniprotkb": "PTPN12", "gene_names_refseq": "PTP-PEST; PTPG1; PTPN12", "protein_names_uniprotkb": "Tyrosine-protein phosphatase non-receptor type 12; 3.1.3.48; PTP-PEST; PTPG1; Protein-tyrosine phosphatase G1", "protein_names_refseq": "protein-tyrosine phosphatase G1; tyrosine-protein phosphatase non-receptor type 12 isoform 2; tyrosine-protein phosphatase non-receptor type 12", "tax_id": 9606, "disease": "colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:5782); (R-HSA-1250196); (R-HSA-182971); (R-HSA-186797); (R-HSA-8863795); (R-HSA-9008059); (R-HSA-9634285)", "pathway_count": 7, "publication_count": 191, "publication_id_list": "10.1101/2023.09.13.557529;10508235;10514377;10652316;10953014;11145836;11237011;11278435;11432829;11823423;11839743;11894095;12052829;12072436;12096920;12214266;12218189;12234920;12239347;12369853;12381835;12538485;12593795;12593796;12665801;12809600;1311092;1350088;14505571;14660651;1472029;14985334;15021893;15117950;15173008;15207811;15256466;15374980;15465819;15475003;15527767;15615512;15701692;15767546;15962011;16331269;1639841;16407834;16436588;16474853;16964243;17046825;1706616;17081983;17322306;17329398;17367763;17575237;17604334;17942920;17943726;18088087;18212344;18220336;18390730;18408761;18452278;18559503;18559524;18669648;18707149;18721752;18767875;18978815;19054389;19415658;19564526;19651622;19664994;19814798;19933325;20058876;20068231;20145185;20230923;20813817;20935647;21251937;21376233;21406692;21876001;22223895;22933705;23186163;23301498;23481700;23583652;23846654;24275569;24481253;24714562;24715725;25081058;25263444;25328409;25418920;25505266;25597754;25645385;2566907;25729923;26728094;26992070;27060871;27134172;27600516;27862975;28092676;28274957;28435517;28514659;28832583;28842430;29093181;29137923;29242379;29263244;29393594;29408302;29490608;29508533;29557506;29786170;29789417;29964125;30389923;30410026;30429286;30833945;31085175;31154438;31844290;31848261;32157095;32387766;32488085;32501498;32541467;32897882;32938616;32938750;32983136;33298915;33592498;33968037;34019948;34087483;34509645;34561969;35051231;35063332;35254053;35364057;35580925;36010968;36284347;37340703;38612874;39302247;39531497;39534244;7478576;7509295;7520867;7541030;7542744;7657591;7929214;8036006;8101647;8454633;8530511;8617750;8621719;8665853;8900172;9232641;9334164;9461599;9739761;9857189", "class_list": "", "function": "Dephosphorylates a range of proteins, and thereby regulates cellular signaling cascades (PubMed:18559503). Dephosphorylates cellular tyrosine kinases, such as ERBB2 and PTK2B/PYK2, and thereby regulates signaling via ERBB2 and PTK2B/PYK2 (PubMed:17329398, PubMed:27134172). Selectively dephosphorylates ERBB2 phosphorylated at 'Tyr-1112', 'Tyr-1196', and/or 'Tyr-1248' (PubMed:27134172)., [UniProtKB, PubMed, PubMed, PubMed]; Identification of PTPN12 Phosphatase as a Novel Negative Regulator of Hippo Pathway Effectors YAP/TAZ in Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA GATA2-AS1 suppresses esophageal squamous cell carcinoma progression via the mir-940/PTPN12 axis., [RefSeq, PubMed]; Protein tyrosine phosphatase non-receptor type 12 suppresses tumor progression in osteosarcoma cells., [RefSeq, PubMed]; The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [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": 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": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 36, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "A4D1C5;B4DKY2;E9PBR5;E9PEH9;Q16130;Q59FD6;Q75MN8;Q86XU4", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.21;3.1.3.18;3.1.3.-;2.7.10.1;3.1.3.5;3.1.3.2;3.1.3.67;3.1.3.27", "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0004721 phosphoprotein phosphatase activity;GO:0004726 non-membrane spanning protein tyrosine phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:0035335 peptidyl-tyrosine dephosphorylation;GO:2000587 negative regulation of platelet-derived growth factor receptor-beta signaling pathway;GO:0006470 protein dephosphorylation;GO:0042246 tissue regeneration;GO:0071364 cellular response to epidermal growth factor stimulus", "synthesized_glycan_count": 0, "hit_score": 20.9, "record_id": "Q05209-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14676-1", "uniprot_id": "MDC1_HUMAN", "mass": 226666.0, "length": 2089, "protein_name": "Mediator of DNA damage checkpoint protein 1", "gene_name": "MDC1", "organism": "Human", "refseq_name": "mediator of DNA damage checkpoint protein 1", "refseq_ac": "NP_055456", "gene_names_uniprotkb": "MDC1; KIAA0170; NFBD1", "gene_names_refseq": "MDC1; NFBD1", "protein_names_uniprotkb": "Mediator of DNA damage checkpoint protein 1; Nuclear factor with BRCT domains 1", "protein_names_refseq": "homologue to Drosophila photoreceptor protein calphotin; mediator of DNA damage checkpoint protein 1; nuclear factor with BRCT domains 1", "tax_id": 9606, "disease": "breast carcinoma (Disease Ontology:DOID:3459); lung carcinoma (Disease Ontology:DOID:3905); cervical cancer (Disease Ontology:DOID:4362); stomach carcinoma (Disease Ontology:DOID:5517)", "pathway": " (hsa:9656); (R-HSA-3108214); (R-HSA-5693565); (R-HSA-5693571); (R-HSA-5693607); (R-HSA-6796648); (R-HSA-69473)", "pathway_count": 7, "publication_count": 356, "publication_id_list": "10.1101/2023.09.13.557529;10550055;10572166;10574707;10724175;10757784;10766245;10802669;10859164;10866324;10959836;10973490;10984493;11025670;11080452;11114888;11139606;11237011;11301010;11350971;11376695;11390408;11390642;11493912;11571274;11573085;11604075;11702069;11792325;11889051;11893489;11927591;11934988;11955432;11971958;11988847;12023295;12077346;12152085;12186630;12231622;12364621;12447390;12475977;12485996;12499369;12509254;12545175;12551934;12578958;12607003;12607004;12607005;12611903;12697768;12773400;12791985;12792649;12832489;12890688;12897153;12947387;14560035;14561766;14576433;14695167;15064416;15175327;15177042;15189136;15190204;15201865;15279781;15279782;15355988;15377652;15451442;15468306;15574327;15608651;15707391;15723659;15781865;15823533;15829507;15940266;15959518;16030353;16049003;16061182;16093244;16148040;16150728;16153896;16327781;16360315;16377563;16408927;16427009;16439204;16439205;16478998;16530042;16600297;16608850;16626738;16651405;16688858;16702430;16810316;16874298;16885023;16914548;17081983;17287340;17290226;17322306;17470781;17525332;17525340;17553757;17575048;17693435;17693683;17848578;17924679;17928296;17965729;18001824;18001825;18006705;18046455;18077395;18077418;18171670;18220336;18283122;18397950;18411307;18443292;18452278;18582474;18583988;18625722;18644861;18669648;18678890;18691969;18707149;18708356;18767875;18805091;18923075;18971343;19001859;19007248;19092802;19117993;19176521;19203578;19203579;19234442;19261749;19287951;19351884;19357644;19413330;19415658;19419957;19505854;19596686;19608861;19622798;19651622;19664994;19664995;19690332;19706679;19779455;19782031;19956565;20008512;20016594;20016603;20023648;20058876;20068231;20154705;20159462;20190268;20233725;20351172;20705237;20711462;21052091;21098080;21147198;21240188;21263215;21282113;21284855;21293379;21325134;21335604;21406692;21482717;21550342;21659603;21680713;21705321;21777809;22012619;22021381;22024395;22139841;22179609;22231403;22234877;22234878;22373579;22424782;22508508;22529269;22544926;22589545;22635276;22661229;22661230;22751501;22792074;22908299;22977173;22980979;22988298;23186163;23301498;23306437;23333306;23345434;23468639;23481700;23505375;23727112;23750026;23871147;23891287;24027577;24129315;24236237;24240613;24275569;24554720;24662513;24667604;24782567;25113031;25114211;25122754;25218447;25429106;25512557;25558984;25561469;25576301;25659039;25712099;25818648;25841101;26154972;26768311;26992070;27458206;27846572;28228285;28904123;29237092;29493099;29557506;30315122;30429286;30484775;30620550;30779550;30833945;30898438;31020640;31092671;31154438;31217245;31492838;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33912179;33936100;33968037;33981976;34019948;34171305;34211107;34509645;34561969;34932366;35051231;35132862;35254053;35289036;35318648;35513511;35580925;35842428;36010968;36172813;36175703;36215666;36241641;36640322;37170184;37962983;39302247;39531497;40596516;40914422;8422676;8944023;9063748;9168116;9259561;9412458;9430729;9452416;9488723;9512523;9705271;9756909;9826654;9885291", "class_list": "", "function": "A positive feedback loop between ID3 and PPARgamma via DNA damage repair regulates the efficacy of radiotherapy for rectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Epigenome-wide Association Study Shows Differential DNA Methylation of MDC1, KLF9, and CUTA in Autoimmune Thyroid Disease., [RefSeq, PubMed]; Histone reader protein required for checkpoint-mediated cell cycle arrest in response to DNA damage within both the S phase and G2/M phases of the cell cycle (PubMed:12475977, PubMed:12499369, PubMed:12551934, PubMed:12607003, PubMed:12607004, PubMed:12607005, PubMed:12611903, PubMed:14695167, PubMed:15201865, PubMed:15377652, PubMed:16049003, PubMed:16377563, PubMed:30898438). Specifically recognizes and binds histone H2AX phosphorylated at 'Ser-139', a marker of DNA damage, serving as a scaffold for the recruitment of DNA repair and signal transduction proteins to discrete foci of DNA damage sites (PubMed:12607005, PubMed:15201865, PubMed:16049003, PubMed:16377563, PubMed:30898438). Also required for downstream events subsequent to the recruitment of these proteins (PubMed:12607005, PubMed:15201865, PubMed:16049003, PubMed:16377563, PubMed:18582474). These include phosphorylation and activation of the ATM, CHEK1 and CHEK2 kinases, and stabilization of TP53/p53 and apoptosis (PubMed:12499369, PubMed:12551934, PubMed:12607004). ATM and CHEK2 may also be activated independently by a parallel pathway mediated by TP53BP1 (PubMed:12499369, PubMed:12551934, PubMed:12607004). Required for chromosomal stability during mitosis by promoting recruitment of TOPBP1 to DNA double strand breaks (DSBs): TOPBP1 forms filamentous assemblies that bridge MDC1 and tether broken chromosomes during mitosis (PubMed:30898438). Required for the repair of DSBs via homologous recombination by promoting recruitment of NBN component of the MRN complex to DSBs (PubMed:18411307, PubMed:18582474, PubMed:18583988, PubMed:18678890)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; MDC1 maintains active elongation complexes of RNA polymerase II., [RefSeq, PubMed]; NFBD1 is parallel to 53BP1 in regulating Chk2 and downstream of H2AX in the recruitment of repair and signaling proteins to sites of DNA damage in tumor cells, [RefSeq, PubMed]; Role in DNA damage signaling pathways, [RefSeq, PubMed]; Targeting MDC1 promotes apoptosis and sensitizes Imatinib resistance in CML cells by mainly disrupting non-homologous end-joining repair. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci. [provided by RefSeq, Jul 2008]., [RefSeq]; This nuclear protein with signature motifs of FHA and BRCT, and an internal 41-amino acid repeat sequence, is an early participant in DNA damage response., [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": 1, "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": 140, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 71, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 23, "binding_glycan_count": 0, "secondary_ac_list": "A2AB04;A2BF04;A2RRA8;A7YY86;B0S8A2;Q0EFC2;Q2L6H7;Q2TAZ4;Q5JP55;Q5JP56;Q5ST83;Q68CQ3;Q86Z06;Q96QC2", "ec_number_list": "", "go_molecular_function": "GO:0140463 chromatin-protein adaptor activity;GO:0140566 histone reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0035861 site of double-strand break;GO:0005694 chromosome", "go_biological_process": "GO:1990166 protein localization to site of double-strand break;GO:0000076 DNA replication checkpoint signaling;GO:0006281 DNA repair;GO:0006974 DNA damage response;GO:0031573 mitotic intra-S DNA damage checkpoint signaling", "synthesized_glycan_count": 0, "hit_score": 37.6, "record_id": "Q14676-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q29RF7-1", "uniprot_id": "PDS5A_HUMAN", "mass": 150830.0, "length": 1337, "protein_name": "Sister chromatid cohesion protein PDS5 homolog A", "gene_name": "PDS5A", "organism": "Human", "refseq_name": "sister chromatid cohesion protein PDS5 homolog A isoform 1", "refseq_ac": "NP_001093869", "gene_names_uniprotkb": "PDS5A; KIAA0648; PDS5; PIG54", "gene_names_refseq": "PDS5A; PIG54; SCC-112; SCC112", "protein_names_uniprotkb": "Sister chromatid cohesion protein PDS5 homolog A; Cell proliferation-inducing gene 54 protein; SCC-112; Sister chromatid cohesion protein 112", "protein_names_refseq": "PDS5, regulator of cohesion maintenance, homolog A; cell proliferation-inducing gene 54 protein; sister chromatid cohesion protein 112; sister chromatid cohesion protein PDS5 homolog A isoform 1; sister chromatid cohesion protein PDS5 homolog A", "tax_id": 9606, "disease": "Cornelia de Lange syndrome (Disease Ontology:DOID:11725)", "pathway": " (hsa:23244); (R-HSA-2467813); (R-HSA-2468052); (R-HSA-2470946); (R-HSA-2500257)", "pathway_count": 5, "publication_count": 158, "publication_id_list": "10411507;11076961;11081627;11237011;11371342;11509732;12194817;14730319;15019998;15339662;15723797;15737063;15821733;15837422;15855230;15958495;16541025;16682347;16964243;17081983;17112726;17113138;17846787;17924679;18097444;18411254;18614053;18669648;18691976;18716626;19608861;19690332;19696148;19907496;19965387;20068231;20112406;21111234;21406692;21878504;21987589;22101327;22424782;22544926;22885700;23186163;23301498;23481700;24029068;24275569;24366607;24397554;24714562;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26758079;26811146;26992070;27600516;27655845;27846572;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30158690;30315122;30379171;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34070827;34087483;34171305;34211107;34260926;34509645;34725712;34932366;35051231;35083852;35132862;35318648;35506437;35561310;35580925;35705054;35710836;36010968;36215666;36241641;36284347;36469004;37217939;37938771;39302247;40596516;40914422;8291532;9649503;9892021", "class_list": "", "function": "Findings suggest that the SCC-112 gene expression is likely to be associated with normal cell growth and proliferation., [RefSeq, PubMed]; Knockdown of CDCA5 suppresses malignant progression of breast cancer cells by regulating PDS5A., [RefSeq, PubMed]; PDS5A and PDS5B in Cohesin Function and Human Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Probable regulator of sister chromatid cohesion in mitosis which may stabilize cohesin complex association with chromatin. May couple sister chromatid cohesion during mitosis to DNA replication. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair., [UniProtKB, PubMed, PubMed]; The cohesin acetylation cycle controls chromatin loop length through a PDS5A brake mechanism., [RefSeq, PubMed]; The protein encoded by this gene binds to the cohesin complex and associates with chromatin through most of the cell cycle. The encoded protein may play a role in regulating sister chromatid cohesion during mitosis. Two transcript variants encoding different isoforms have been found for this gene. [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": 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "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": "Q2TTR5;Q68DF7;Q8N7J4;Q8NG14;Q9Y4D4", "ec_number_list": "", "go_molecular_function": "GO:0140670 cohesin unloader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000775 chromosome, centromeric region;GO:0000785 chromatin", "go_biological_process": "GO:0051301 cell division;GO:0007064 mitotic sister chromatid cohesion;GO:0008156 negative regulation of DNA replication", "synthesized_glycan_count": 0, "hit_score": 16.4, "record_id": "Q29RF7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13427-1", "uniprot_id": "PPIG_HUMAN", "mass": 88617.0, "length": 754, "protein_name": "Peptidyl-prolyl cis-trans isomerase G", "gene_name": "PPIG", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase G", "refseq_ac": "NP_004783", "gene_names_uniprotkb": "PPIG", "gene_names_refseq": "CARS-Cyp; CYP; PPIG; SCAF10; SRCyp", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase G; 5.2.1.8; CARS-Cyp; CARS-cyclophilin; CASP10; Clk-associating RS-cyclophilin; Cyclophilin G; PPIase G; Peptidyl-prolyl isomerase G; Rotamase G; SR-cyclophilin; SR-cyp; SRcyp", "protein_names_refseq": "CARS-cyclophilin; CASP10; Clk-associating RS-cyclophilin; PPIase G; SR-cyclophilin; SR-cyp; SR-related CTD-associated factor 10; peptidyl-prolyl cis-trans isomerase G; peptidyl-prolyl isomerase G (cyclophilin G); rotamase G", "tax_id": 9606, "disease": "", "pathway": " (hsa:9360); (R-HSA-72163); (R-HSA-9692916)", "pathway_count": 3, "publication_count": 159, "publication_id_list": "10.1101/2023.09.13.557529;10882114;11014198;11101529;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;15016823;15208624;15358154;16314458;16809785;17035307;17081983;17095540;17270291;17287340;17322306;17332742;17412287;17525332;17596301;17606899;17761676;18212344;18322460;18452278;18593880;18669648;18767875;19103666;19165350;19380580;19398035;19413330;19536130;19651622;19664995;20068231;20423332;20676357;20980672;21406692;21536652;2176635;22046132;22110043;22253733;22312431;22365833;22959432;22961380;23186163;23222130;23236153;23301498;23345524;23483519;24196718;24275569;24304693;24448447;24509444;24622840;24737827;24854014;24914973;25135833;25555158;2558966;25764917;25880248;25907116;26320399;26378163;26385511;26420826;26969736;27164085;27203180;27377154;27459055;27683217;28062851;28076346;28112215;28148787;28502770;28510447;28589370;28781166;29294448;29301961;29360106;29361316;2963332;30185776;30315277;30379171;30429286;30620550;30705154;30728453;30765414;30833945;30975767;31034780;31231549;31409651;31530632;31844290;31848261;32157095;32161166;32179686;32329775;32494006;32728199;32897882;32938616;33060197;33243851;33298915;33446560;33592498;33912179;33968037;33981976;34019948;34171305;34301950;34822310;35051231;35385551;35580925;36010968;37217939;3757028;39894887;40596516;8566756;8608946;8973360;9016565;9153302;9242493;9512519;9524131;9539711;9671485;9701291;9731529;9989503", "class_list": "", "function": "Human nuclear SRcyp is a cell cycle-regulated cyclophilin, [RefSeq, PubMed]; PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). May be implicated in the folding, transport, and assembly of proteins. May play an important role in the regulation of pre-mRNA splicing., [UniProtKB, PubMed]; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides., [UniProtKB, UniProtKB, UniProtKB]; Results indicate that LUC7L3, PPIG, and SFRS18 are not only implicated in EDA+ fibronectin formation, but also that they could possess multiple roles in psoriasis-associated molecular abnormalities. Erratum:[Mol Cell Biochem. 2017 Dec;436(1-2):201. doi: 10.1007/s11010-017-3105-y. PMID: 28770468], [RefSeq, PubMed]; The finding that zebularine upregulates CYP gene expression through DNMT1 and PKR modulation sheds light on the mechanisms controlling hepatocyte function and thus may aid in the development of new in-vitro systems using high-functioning hepatocytes 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": 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": 28, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "D3DPC5;D3DPC6;O00706;Q53R40;Q53SN4;Q96DG9", "ec_number_list": "5.2.1.8;2.3.2.27;3.6.4.13;3.6.4.10;3.1.13.-;2.7.7.48;2.7.7.6", "go_molecular_function": "GO:0003723 RNA binding;GO:0016018 cyclosporin A binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0008380 RNA splicing;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "Q13427-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3SYG4-1", "uniprot_id": "PTHB1_HUMAN", "mass": 99280.0, "length": 887, "protein_name": "Protein PTHB1", "gene_name": "BBS9", "organism": "Human", "refseq_name": "protein PTHB1 isoform 3", "refseq_ac": "NP_001028776", "gene_names_uniprotkb": "BBS9; PTHB1", "gene_names_refseq": "B1; BBS9; C18; D1; PTHB1", "protein_names_uniprotkb": "Protein PTHB1; Bardet-Biedl syndrome 9 protein; Parathyroid hormone-responsive B1 gene protein", "protein_names_refseq": "PTH-responsive osteosarcoma B1 protein; bardet-Biedl syndrome 9 protein; parathyroid hormone-responsive B1 gene protein; protein PTHB1 isoform 3; protein PTHB1", "tax_id": 9606, "disease": "Bardet-Biedl syndrome 9 (Disease Ontology:DOID:0110131); Bardet-Biedl syndrome (Disease Ontology:DOID:1935); craniosynostosis (Disease Ontology:DOID:2340); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:27241); (R-HSA-5620922)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10221542;11237011;11252952;12618763;15258860;15314642;16380913;17574030;19081074;19421068;19575670;20080638;20233871;20603001;21344540;21427764;22072986;22139371;22389062;22500027;23351793;24296415;25418920;25443296;25446516;25576301;25892735;26085087;26992070;27846572;28904123;29493099;29557506;30379171;30429286;31217245;31844290;32157095;32357974;32488085;32897882;32938616;33138063;33298915;33717175;33912179;33968037;34185709;34692830;35051231;35580925;36010968;37217939;37938771", "class_list": "", "function": "A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Comparative genomics and gene expression analysis identifies PHTB1 protein as BBS9, a new Bardet-Biedl syndrome gene., [RefSeq, PubMed]; Gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour; new alternately spliced isoforms were found in a wide range of adult and foetal tissues, [RefSeq, PubMed]; Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance. Publication Status: Online-Only, [RefSeq, PubMed]; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for proper BBSome complex assembly and its ciliary localization., [UniProtKB, PubMed, PubMed]; This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [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": 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": 2, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "E9PDC9;P78514;Q7KYS6;Q7KYS7;Q8N570;Q99844;Q99854;Q9Y699;Q9Y6A0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005929 cilium;GO:0016020 membrane;GO:0034451 centriolar satellite;GO:0060170 ciliary membrane", "go_biological_process": "GO:0015031 protein transport;GO:0007601 visual perception;GO:0060271 cilium assembly;GO:0045444 fat cell differentiation;GO:0061512 protein localization to cilium", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q3SYG4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9C0H9-5", "uniprot_id": "SRCN1_HUMAN", "mass": 127105.0, "length": 1183, "protein_name": "SRC kinase signaling inhibitor 1", "gene_name": "SRCIN1", "organism": "Human", "refseq_name": "SRC kinase signaling inhibitor 1", "refseq_ac": "NP_079524", "gene_names_uniprotkb": "SRCIN1; KIAA1684; P140; SNIP", "gene_names_refseq": "P140; SNIP; SRCIN1", "protein_names_uniprotkb": "SRC kinase signaling inhibitor 1; SNAP-25-interacting protein; SNIP; p130Cas-associated protein; p140Cap", "protein_names_refseq": "P130Cas-associated protein; SNAP-25-interacting protein; SNAP25-interacting protein; SRC kinase signaling inhibitor 1; p140Cap", "tax_id": 9606, "disease": "cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:80725)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "14657239;17525734;18475297;18491316;18662323;19146815;20166139;23383002;24275569;26992070;28657654;29557506;30315122;30379171;31154438;32157095;32924985;32964035;33079227;34087483;35051231;35580925;36010968;37169737;38253038;38785978", "class_list": "", "function": "Acts as a negative regulator of SRC by activating CSK which inhibits SRC activity and downstream signaling, leading to impaired cell spreading and migration. Regulates dendritic spine morphology. Involved in calcium-dependent exocytosis. May play a role in neurotransmitter release or synapse maintenance., [UniProtKB, PubMed, PubMed, PubMed]; Expression correlated significantly with unfavourable overall survival, suggesting that SNIP/p140Cap may be a useful diagnostic and prognostic marker, aas well as therapeutic target, in breast cancer., [RefSeq, PubMed]; FOXD3-AS1 suppresses the progression of non-small cell lung cancer by regulating miR-150/SRCIN1axis., [RefSeq, PubMed]; Hypermethylation of the Gene Body in SRCIN1 Is Involved in Breast Cancer Cell Proliferation and Is a Potential Blood-Based Biomarker for Early Detection and a Poor Prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; P140Cap inhibits beta-Catenin in the breast cancer stem cell compartment instructing a protective anti-tumor immune response. Publication Status: Online-Only, [RefSeq, PubMed]; Provides the first evidence that p140Cap is a novel negative regulator of tumour growth, [RefSeq, PubMed]; SRCIN1 Regulated by circCCDC66/miR-211 Is Upregulated and Promotes Cell Proliferation in Non-Small-Cell Lung Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The p140Cap adaptor protein as a molecular hub to block cancer aggressiveness. Review article, [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": 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": 41, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "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": "Q75T46;Q8N4W8", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0014069 postsynaptic density;GO:0015629 actin cytoskeleton;GO:0030424 axon", "go_biological_process": "GO:0061098 positive regulation of protein tyrosine kinase activity;GO:0034446 substrate adhesion-dependent cell spreading;GO:0061099 negative regulation of protein tyrosine kinase activity;GO:0030334 regulation of cell migration;GO:0098974 postsynaptic actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9C0H9-5", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N0S2-1", "uniprot_id": "SYCE1_HUMAN", "mass": 39699.0, "length": 351, "protein_name": "Synaptonemal complex central element protein 1", "gene_name": "SYCE1", "organism": "Human", "refseq_name": "synaptonemal complex central element protein 1 isoform 1", "refseq_ac": "NP_570140", "gene_names_uniprotkb": "SYCE1; C10orf94", "gene_names_refseq": "C10orf94; CT76; POF12; SPGF15; SYCE1", "protein_names_uniprotkb": "Synaptonemal complex central element protein 1; CT76; Cancer/testis antigen 76", "protein_names_refseq": "cancer/testis antigen 76; epididymis secretory sperm binding protein; synaptonemal complex central element protein 1 isoform 1", "tax_id": 9606, "disease": "spermatogenic failure 15 (Disease Ontology:DOID:0070172); primary ovarian insufficiency 12 (Disease Ontology:DOID:0080869)", "pathway": " (hsa:93426); (R-HSA-1221632)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "11237011;11673449;11829491;15125634;15235794;19146767;20634189;25062452;25899990;27600516;28411811;28832583;29485866;30429286;32938616;33728612;35718780;37957469;8794855;9008167;9285814", "class_list": "", "function": "A mutation in SYCE1 is associated with non-obstructive azoospermia., [RefSeq, PubMed]; Given the known function of the SYCE1 gene, we suggest that the nonsense mutation identified accounts for the primary ovarian insufficiency phenotype., [RefSeq, PubMed]; Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Requires SYCP1 in order to be incorporated into the central element. May have a role in the synaptonemal complex assembly, stabilization and recombination., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Novel Mutations Reduce Expression of Meiotic Regulators SYCE1 and BOLL in Testis of Azoospermic Men from West Bengal, India., [RefSeq, PubMed]; Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia. Publication Status: Online-Only, [RefSeq, PubMed]; Targeted next-generation sequencing panel screening of 668 Chinese patients with non-obstructive azoospermia., [RefSeq, PubMed]; This gene encodes a member of the synaptonemal complex, which links homologous chromosomes during prophase I of meiosis. The tripartite structure of the complex is highly conserved amongst metazoans. It consists of two lateral elements and a central region formed by transverse elements and a central element. The protein encoded by this gene localizes to the central element and is required for initiation and elongation of the synapsis. Allelic variants of this gene have been associated with premature ovarian failure and spermatogenic failure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 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": 0, "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": "B2RC80;Q9BWU3;Q9BWU4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000801 central element;GO:0000794 condensed nuclear chromosome;GO:0005694 chromosome;GO:0000795 synaptonemal complex;GO:0016020 membrane", "go_biological_process": "GO:0051301 cell division;GO:0007130 synaptonemal complex assembly;GO:0007129 homologous chromosome pairing at meiosis;GO:0007131 reciprocal meiotic recombination;GO:0035825 homologous recombination", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8N0S2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9ULW0-1", "uniprot_id": "TPX2_HUMAN", "mass": 85653.0, "length": 747, "protein_name": "Targeting protein for Xklp2", "gene_name": "TPX2", "organism": "Human", "refseq_name": "targeting protein for Xklp2", "refseq_ac": "NP_036244", "gene_names_uniprotkb": "TPX2; C20orf1; C20orf2; DIL2; HCA519", "gene_names_refseq": "C20orf1; C20orf2; DIL-2; DIL2; FLS353; GD:C20orf1; HCA519; HCTP4; REPP86; TPX2; p100", "protein_names_uniprotkb": "Targeting protein for Xklp2; DIL-2; Differentially expressed in cancerous and non-cancerous lung cells 2; Hepatocellular carcinoma-associated antigen 519; Hepatocellular carcinoma-associated antigen 90; Protein fls353; Restricted expression proliferation-associated protein 100; p100", "protein_names_refseq": "TPX2, microtubule-associated protein homolog; TPX2, microtubule-associated, homolog; differentially expressed in cancerous and non-cancerous lung cells 2; differentially expressed in cancerous and noncancerous lung cells 2; differentially expressed in lung cells; hepatocellular carcinoma-associated antigen 519; hepatocellular carcinoma-associated antigen 90; preferentially expressed in colorectal cancer; protein fls353; restricted expression proliferation associated protein 100; targeting protein for Xklp2", "tax_id": 9606, "disease": "", "pathway": " (hsa:22974); (R-HSA-6804756); (R-HSA-8854518)", "pathway_count": 3, "publication_count": 199, "publication_id_list": "10.1101/2023.09.13.557529;10393424;10435622;10500146;10512675;10570149;10604467;10673500;10673501;10710310;10871281;10884347;11239457;11447225;11511362;11546806;11551930;11740489;11780126;12064478;12097419;12393879;12702766;12851404;12914926;14580337;14702041;15053879;15498487;15705883;15866171;16322561;16565220;16959974;16964243;17081983;17108107;17287340;17322306;17349958;17525332;17591690;17924679;18212344;18446792;18452278;18490454;18662907;18663142;18669648;18691976;18707149;18767875;19007248;19121998;19208764;19369195;19413330;19415658;19608861;19651622;19664994;19664995;19691289;19965871;20068230;20068231;20934997;20959462;21242313;21317932;21347367;21406692;21872626;22028470;22094468;22424782;22544926;22645359;22898188;23000554;23186163;23301498;23481700;23485397;23676219;24145406;24366607;24397554;24714562;24715725;24874608;24966688;25218447;25532896;25576301;25645385;25810538;25986610;26024233;26154972;26165940;26240182;26375851;26728094;26992070;27600516;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28446606;28514659;28832583;28834231;28904123;29052541;29093164;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29786170;29789417;30192525;30315122;30410026;30429286;30484775;30524438;30779550;30784271;30833945;31092671;31154438;31217245;31222486;31272499;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34561969;34932366;35051231;35154160;35318648;35561310;35580925;35705054;36010968;36215666;36241641;36284347;37217939;37824390;37938771;38266813;38315450;38770093;40307207;9207457;9925639", "class_list": "", "function": "Integrative analysis confirms TPX2 as a novel biomarker for clinical implication, tumor microenvironment, and immunotherapy response across human solid tumors., [RefSeq, PubMed]; MiRNA-27b-3p/TPX2 Axis Regulates Clear Cell Renal Cell Carcinoma Cell Proliferation, Invasion and Migration., [RefSeq, PubMed]; Spindle assembly factor required for normal assembly of mitotic spindles. Required for normal assembly of microtubules during apoptosis. Required for chromatin and/or kinetochore dependent microtubule nucleation. Mediates AURKA localization to spindle microtubules (PubMed:18663142, PubMed:19208764, PubMed:37728657). Activates AURKA by promoting its autophosphorylation at 'Thr-288' and protects this residue against dephosphorylation (PubMed:18663142, PubMed:19208764). TPX2 is inactivated upon binding to importin-alpha (PubMed:26165940). At the onset of mitosis, GOLGA2 interacts with importin-alpha, liberating TPX2 from importin-alpha, allowing TPX2 to activate AURKA kinase and stimulate local microtubule nucleation (PubMed:26165940)., [UniProtKB, PubMed, PubMed, PubMed]; TPX2 influences the regulation of macrophage polarization via the NF-kappaB pathway in lung adenocarcinoma., [RefSeq, PubMed]; TPX2 upregulates MMP13 to promote the progression of lipopolysaccharide-induced osteoarthritis. 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": 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": 1, "reported_phosphosites": 45, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q96RR5;Q9H1R4;Q9NRA3;Q9UFN9;Q9UL00;Q9Y2M1", "ec_number_list": "", "go_molecular_function": "GO:0061676 importin-alpha family protein binding;GO:0060090 molecular adaptor activity;GO:0019901 protein kinase binding;GO:0043539 protein serine/threonine kinase activator activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0051301 cell division;GO:0090307 mitotic spindle assembly;GO:0006915 apoptotic process;GO:0032147 activation of protein kinase activity", "synthesized_glycan_count": 0, "hit_score": 21.0, "record_id": "Q9ULW0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15910-1", "uniprot_id": "EZH2_HUMAN", "mass": 85363.0, "length": 746, "protein_name": "Histone-lysine N-methyltransferase EZH2", "gene_name": "EZH2", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase EZH2 isoform c", "refseq_ac": "NP_001190176", "gene_names_uniprotkb": "EZH2; KMT6", "gene_names_refseq": "ENX-1; ENX1; EZH2b; EZH2; KMT6A; KMT6; WVS2; WVS", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase EZH2; 2.1.1.356; ENX-1; Enhancer of zeste homolog 2; Lysine N-methyltransferase 6", "protein_names_refseq": "enhancer of zeste homolog 2; histone-lysine N-methyltransferase EZH2 isoform c; histone-lysine N-methyltransferase EZH2; lysine N-methyltransferase 6", "tax_id": 9606, "disease": "diffuse large B-cell lymphoma (Disease Ontology:DOID:0050745); colorectal adenoma (Disease Ontology:DOID:0050860); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); syndromic intellectual disability (Disease Ontology:DOID:0050888); myelodysplastic syndrome (Disease Ontology:DOID:0050908); Smith-McCort dysplasia (Disease Ontology:DOID:0060247); chronic myelomonocytic leukemia (Disease Ontology:DOID:0080188); colorectal carcinoma (Disease Ontology:DOID:0080199); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); Dyggve-Melchior-Clausen disease (Disease Ontology:DOID:0111167); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); urinary bladder cancer (Disease Ontology:DOID:11054); leiomyoma (Disease Ontology:DOID:127); lung cancer (Disease Ontology:DOID:1324); Weaver syndrome (Disease Ontology:DOID:14731); pancreatic cancer (Disease Ontology:DOID:1793); colon cancer (Disease Ontology:DOID:219); endometriosis (Disease Ontology:DOID:289); invasive ductal carcinoma (Disease Ontology:DOID:3008); glioblastoma (Disease Ontology:DOID:3068); osteosarcoma (Disease Ontology:DOID:3347); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); cholangiocarcinoma (Disease Ontology:DOID:4947); myelofibrosis (Disease Ontology:DOID:4971); renal Wilms' tumor (Disease Ontology:DOID:5176); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); B-cell lymphoma (Disease Ontology:DOID:707); malignant pleural mesothelioma (Disease Ontology:DOID:7474); abdominal aortic aneurysm (Disease Ontology:DOID:7693); chronic myeloid leukemia (Disease Ontology:DOID:8552); acute megakaryocytic leukemia (Disease Ontology:DOID:8761); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:2146); (R-HSA-212300); (R-HSA-2559580); (R-HSA-3214841); (R-HSA-5617472); (R-HSA-8943724); (R-HSA-8953750); (R-HSA-9609690); (R-HSA-9710421); (R-HSA-9764725); (R-HSA-9909649)", "pathway_count": 11, "publication_count": 395, "publication_id_list": "10347217;10581039;10655587;10722742;10772813;10777502;10871633;10949293;11158321;11171983;11237011;11378386;11545734;11564866;11781575;11912130;11959841;11959846;12004135;12042320;12101246;12123582;12130538;12134156;12189133;12193592;12351676;12374981;12421820;12435631;12453418;12540855;12670868;12700765;12808055;12857923;12909625;13130464;14507994;14532106;14536086;14690610;14992727;15014447;15099518;15104674;15145825;15208672;15225548;15231737;15235609;15264237;15287722;15385962;15536069;15542832;15563468;15684044;15866172;15867264;15964846;16079151;16118227;16140760;16179254;16186825;16199523;16224021;16292313;16337592;16357870;16418168;16431907;16436515;16519522;16549775;16618801;16676006;16682010;16702404;16717091;16805913;16826196;16936726;16964243;17001316;17021013;17081983;17130829;17185360;17200670;17210787;17254968;17255097;17332741;17344414;17395714;17428788;17500065;17544230;1756725;17600109;17660710;17707229;17713478;17761849;17765224;17825402;17851529;17873065;17875933;17914578;17974977;18086877;18172008;18172012;18203656;18220336;18223688;18285464;18346456;18365017;18391013;18487508;18535146;18562691;18628979;18669648;18691976;18781158;18793328;18974356;19026781;19088198;19115252;19232136;19440552;19451217;19451218;19462008;19528227;19571010;19682613;19690332;19747919;1975088;19782034;19808676;19854132;19884659;20068231;20075857;20081860;20085832;20112406;20123894;20128819;20233713;20418909;20516213;20601953;20871592;20935635;20937877;20974918;21123648;21131967;21170310;21190999;21196496;21289308;21406692;21596310;21659531;21690215;21779408;21828135;21832073;21856302;21865393;21932426;21986495;22009739;22020331;22099308;22128185;22158034;22174689;22177091;22190405;22323599;22325352;22336108;22466170;22569366;22683641;22705304;22850114;22879880;22939622;23063525;23186163;23219899;23239504;23241245;23287862;23326524;23431328;23466526;23534758;23630040;23679895;23954429;24074865;24174538;24312487;24367927;24469040;24474760;24582688;24586203;24627085;24715725;24718924;24992895;25101834;25135475;25418920;25431950;25469497;2570724;25728608;25728771;25800736;25913784;26154972;26212009;26375851;26572645;26581166;26694085;26910647;26936398;26992070;27468692;27494834;27501258;27703488;27716745;27846572;27920218;27941792;28063628;28218747;28228285;28229514;28404884;28415052;28416261;28514659;28622427;28638739;28832583;28904123;29242379;29242551;29331515;29393594;29437277;29508533;29557506;29632046;29632711;29729076;29769354;29786170;29790264;29938870;29941599;29992318;30022044;30026490;30093632;30159126;30282996;30360396;30385408;30410026;30484775;30524438;30575739;30736855;30761409;30898548;30923826;30993897;31086175;31189930;31217245;31451685;31844290;32051553;32157095;32183950;32188940;32236612;32265295;32357974;32387766;32483123;32502341;32537408;32860047;32884286;32895488;32897882;32938616;32983136;33323928;33392160;33437477;33608512;33633747;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34381492;34510715;35008676;35051231;35138000;35292107;35470239;35580925;35682829;35851744;35874702;36064715;36284347;36356296;36581221;38494860;38561350;39118123;39174513;39358471;39390614;39751742;40596516;7488013;7501971;7535770;7588633;7623816;7816143;7831296;7859739;7906964;7908827;8001816;8078588;8259215;8319905;8622669;8622688;8626550;8649418;8674428;8741839;8759021;8774846;8846784;8954776;8974401;9030721;9162092;9195981;9214638;9218805;9272954;9482740;9499421;9501179;9529249;9564042;9584199;9628874;9689056;9704927;9768359;9824166", "class_list": "", "function": "Catalytic subunit of the PRC2/EED-EZH2 complex, a Polycomb group (PcG) complex that methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene (PubMed:14532106, PubMed:15225548, PubMed:15385962, PubMed:16618801, PubMed:16936726, PubMed:17344414, PubMed:22323599, PubMed:24474760, PubMed:26581166, PubMed:30026490, PubMed:30923826). Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively (PubMed:15231737, PubMed:17210787, PubMed:18285464, PubMed:22323599, PubMed:30923826). Displays a preference for substrates with less methylation, loses activity when progressively more methyl groups are incorporated into H3K27, H3K27me0 > H3K27me1 > H3K27me2 (PubMed:22323599, PubMed:30923826). Compared to EZH1-containing complexes, it is more abundant in embryonic stem cells and plays a major role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation (PubMed:19026781). The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems (PubMed:16357870, PubMed:17200670). Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1, CDKN2A and retinoic acid target genes (PubMed:16179254, PubMed:18086877, PubMed:20935635). EZH2 can also methylate non-histone proteins such as the transcription factor GATA4 and the nuclear receptor RORA (PubMed:23063525). Regulates the circadian clock via histone methylation at the promoter of the circadian genes (PubMed:16717091). Essential for the CRY1/2-mediated repression of the transcriptional activation of PER1/2 by the CLOCK-BMAL1 heterodimer; involved in the di and trimethylation of 'Lys-27' of histone H3 on PER1/2 promoters which is necessary for the CRY1/2 proteins to inhibit transcription (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; EZH2 represses mesenchymal genes and upholds the epithelial state of breast carcinoma cells. Publication Status: Online-Only, [RefSeq, PubMed]; EZH2 specifically regulates ISL1 during embryonic urinary tract formation. Publication Status: Online-Only, [RefSeq, PubMed]; Homeobox B9 promotes the invasion and metastasis of hepatocellular carcinoma cells via the EZH2-MIR203A-SNAI2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; MTF2 facilitates the advancement of osteosarcoma through mediating EZH2/SFRP1/Wnt signaling. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified 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": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "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": 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": 19, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 40, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2RAQ1;B3KS30;B7Z1D6;B7Z7L6;Q15755;Q75MG3;Q92857;Q96FI6", "ec_number_list": "2.3.2.-;2.1.1.364;3.5.1.-;3.5.1.98;1.14.11.68;1.14.11.-;1.14.11.65;1.14.99.66;3.1.13.-;2.7.7.48;2.7.7.6;2.1.1.37;2.1.1.367;2.1.1.-;2.3.2.27;2.3.1.48;2.3.1.-;3.6.4.-;2.1.1.356", "go_molecular_function": "GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0043021 ribonucleoprotein complex binding;GO:0003714 transcription corepressor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0045202 synapse;GO:0000785 chromatin;GO:0005694 chromosome", "go_biological_process": "GO:0031509 subtelomeric heterochromatin formation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0008284 positive regulation of cell population proliferation;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 40.4, "record_id": "Q15910-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13007-1", "uniprot_id": "IL24_HUMAN", "mass": 23825.0, "length": 206, "protein_name": "Interleukin-24", "gene_name": "IL24", "organism": "Human", "refseq_name": "interleukin-24 isoform 3 precursor", "refseq_ac": "NP_001172085", "gene_names_uniprotkb": "IL24; MDA7; ST16", "gene_names_refseq": "C49A; FISP; IL10B; IL24; MDA7; MOB5; ST16", "protein_names_uniprotkb": "Interleukin-24; IL-24; MDA-7; Melanoma differentiation-associated gene 7 protein; Suppression of tumorigenicity 16 protein", "protein_names_refseq": "IL-4-induced secreted protein; interleukin-24 isoform 3 precursor; melanocyte-associated Mda-7; melanoma differentiation-associated gene 7 protein; suppression of tumorigenicity 16 (melanoma differentiation)", "tax_id": 9606, "disease": "periodontal disease (Disease Ontology:DOID:3388)", "pathway": " (hsa:11009); (R-HSA-8854691)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10875937;11163236;11196675;11237011;11390453;11390454;11481447;11564763;11704829;11706020;12087100;12351624;12469119;14580208;14764663;15120653;15166220;15178681;15304100;15340161;15919823;16313301;1662392;16750817;16982608;17878297;18599299;18669613;18830264;18941194;19457860;19535621;20462497;20671117;20966397;21098725;22802649;22962576;23078624;25004819;25168428;25645385;27133025;27687232;28458652;30111632;32157095;32161166;32488085;32938616;37165170;38792924;38905384;7512451;7543512;8545104;8830676;9826712", "class_list": "", "function": "Hypoxia and IL-24 drive a sterile wound healing pathway., [RefSeq, PubMed]; IL24 Expression in Synovial Myofibroblasts: Implications for Female Osteoarthritis Pain through Propensity Score Matching Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Mda-7s expression is linked to a non-metastatic phenotype, [RefSeq, PubMed]; Multifunctional cytokine mainly produced by T-cells that plays a regulatory role in immune response, tissue homeostasis, host defense, and oncogenesis (PubMed:25168428, PubMed:27687232). Possesses antiviral functions and induces the type I interferon response during influenza infection (PubMed:27687232). Signals through two receptor complexes IL20RA/IL20RB or IL20RB/IL22RA1 (PubMed:11706020, PubMed:30111632). In turn, stimulates the JAK1-STAT3 and MAPK pathways and promotes the secretion of pro-inflammatory mediators including IL8 and MMP1 (PubMed:25168428). Intracellularly, maintains endoplasmic reticulum homeostasis by restricting the eIF2alpha-CHOP pathway-mediated stress signal (By similarity). In addition, acts as a quality control mechanism for the ubiquitin proteasome system by alerting the cell to proteasome dysfunction through activation of PKR/EIF2AK2 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Serum level of interleukin-24 and its polymorphism in eczematic Iraqi patients., [RefSeq, PubMed]; This gene encodes a member of the IL10 family of cytokines. It was identified as a gene induced during terminal differentiation in melanoma cells. The protein encoded by this gene can induce apoptosis selectively in various cancer cells. Overexpression of this gene leads to elevated expression of several GADD family genes, which correlates with the induction of apoptosis. The phosphorylation of mitogen-activated protein kinase 14 (MAPK7/P38), and heat shock 27kDa protein 1 (HSPB2/HSP27) are found to be induced by this gene in melanoma cells, but not in normal immortal melanocytes. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [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": 0, "reported_glycation": 0, "reported_snv": 8, "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": "Q2YHE5;Q53XZ7;Q5YLN8;Q96DB0;Q96KG4", "ec_number_list": "", "go_molecular_function": "GO:0005125 cytokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0006955 immune response;GO:0008284 positive regulation of cell population proliferation;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": "Q13007-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86TL0-1", "uniprot_id": "ATG4D_HUMAN", "mass": 52922.0, "length": 474, "protein_name": "Cysteine protease ATG4D", "gene_name": "ATG4D", "organism": "Human", "refseq_name": "cysteine protease ATG4D isoform 2", "refseq_ac": "NP_001268433", "gene_names_uniprotkb": "ATG4D; APG4D; AUTL4", "gene_names_refseq": "APG4-D; APG4D; ATG4D; AUTL4; HsAPG4D; SPGF101", "protein_names_uniprotkb": "Cysteine protease ATG4D; 3.4.22.-; AUT-like 4 cysteine endopeptidase; Autophagin-4; Autophagy-related cysteine endopeptidase 4; Autophagy-related protein 4 homolog D; HsAPG4D", "protein_names_refseq": "APG4 autophagy 4 homolog D; ATG4 autophagy related 4 homolog D; AUT-like 4 cysteine endopeptidase; autophagin-4; autophagy-related cysteine endopeptidase 4; autophagy-related protein 4 homolog D; cysteine protease ATG4D isoform 2; cysteine protease ATG4D; cysteine protease involved in autophagy", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:84971); (R-HSA-1632852)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "11096062;11237011;11825910;12446702;15187094;16963840;17618624;18321988;18439900;19211835;19322194;19549685;19590496;19664994;19855179;19898463;20059746;20713597;20921139;21177865;21205641;21258367;21383122;21460621;21819378;22170151;22441018;22682742;23186163;23202584;23508006;23685627;23727157;23884233;24747438;24954904;25418920;25484072;25568151;25892735;26811146;26992070;27920218;28218747;28904123;29242379;29393594;29437277;29458288;29632046;29769354;30315122;30374741;30379171;30410026;30429286;30661429;31844290;32157095;32387766;32502341;32938616;33298915;33773106;33909989;33912179;33936100;33988247;34313895;36241641;7628435", "class_list": "", "function": "ATG4 family proteins drive phagophore growth independently of the LC3/GABARAP lipidation system., [RefSeq, PubMed]; Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene belongs to the autophagy-related protein 4 (Atg4) family of C54 endopeptidases. Members of this family encode proteins that play a role in the biogenesis of autophagosomes, which sequester the cytosol and organelles for degradation by lysosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]; Caspase cleavage of Atg4D stimulates GABARAP-L1 processing and triggers mitochondrial targeting and apoptosis., [RefSeq, PubMed]; Cysteine protease that plays a key role in autophagy by mediating both proteolytic activation and delipidation of ATG8 family proteins., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; High ATG4D expression is associated with Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Human HAP1 and HeLa cells lacking ATG4B exhibit a severe but incomplete defect in LC3/GABARAP processing and autophagy. By further genetic depletion of ATG4 isoforms using CRISPR-Cas9 and siRNA we uncover that ATG4A, ATG4C and ATGD all contribute to residual priming activity, which is sufficient to enable lipidation of endogenous GABARAPL1 on autophagic structures., [RefSeq, PubMed]; Pathogenic variants of ATG4D in infertile men with non-obstructive azoospermia identified using whole-exome sequencing., [RefSeq, PubMed]; Plays a role as an autophagy regulator that links mitochondrial dysfunction with apoptosis. The mitochondrial import of ATG4D during cellular stress and differentiation may play important roles in the regulation of mitochondrial physiology, ROS, mitophagy and cell viability., [UniProtKB, PubMed, PubMed]; Silencing of ATG4D suppressed proliferation and enhanced cisplatin-induced apoptosis in hepatocellular carcinoma through Akt/Caspase-3 pathway., [RefSeq, PubMed]; The actions of ATG4 family members (particularly ATG4B) are required for the control of autophagosome fusion with late, degradative compartments in differentiating human erythroblasts., [RefSeq, PubMed]; The import of Atg4D during cellular stress and differentiation may play important roles in the regulation of mitochondrial physiology, reactive oxygen species, mitophagy and cell viability., [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": 1, "reported_glycation": 0, "reported_snv": 13, "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": "Q969K0", "ec_number_list": "3.4.22.-", "go_molecular_function": "GO:0004197 cysteine-type endopeptidase activity;GO:0008234 cysteine-type peptidase activity;GO:0019786 protein-phosphatidylethanolamide deconjugating activity;GO:0070004 cysteine-type exopeptidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0006508 proteolysis;GO:0015031 protein transport;GO:0016485 protein processing;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q86TL0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2G3-1", "uniprot_id": "AT11B_HUMAN", "mass": 134190.0, "length": 1177, "protein_name": "Phospholipid-transporting ATPase IF", "gene_name": "ATP11B", "organism": "Human", "refseq_name": "phospholipid-transporting ATPase IF", "refseq_ac": "NP_055431", "gene_names_uniprotkb": "ATP11B; ATPIF; ATPIR; KIAA0956", "gene_names_refseq": "ATP11B; ATPIF; ATPIR", "protein_names_uniprotkb": "Phospholipid-transporting ATPase IF; 7.6.2.1; ATPase IR; ATPase class VI type 11B; P4-ATPase flippase complex alpha subunit ATP11B", "protein_names_refseq": "ATPase IR; ATPase, class VI, type 11B; P4-ATPase flippase complex alpha subunit ATP11B; phospholipid-transporting ATPase IF; probable phospholipid-transporting ATPase IF", "tax_id": 9606, "disease": "", "pathway": " (hsa:23200); (R-HSA-6798695); (R-HSA-936837)", "pathway_count": 3, "publication_count": 100, "publication_id_list": "10401004;10484781;10615129;10767338;11015572;11237011;11790799;15831496;15919184;15925480;16182249;1656976;16700898;18723824;19345671;19690332;19878721;20058876;2160952;21914794;22186024;23186163;23196729;23585472;23650620;24275569;24392018;24714562;25418920;25502872;25576301;25892735;26154972;26811146;26992070;27067231;27600516;27920218;28063628;28218747;28228285;28467828;28514659;28649982;28832583;28834231;28855257;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29769354;30018401;30315122;30410026;30429286;30620550;30626607;31020640;31092671;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34357683;34725712;34932366;35051231;35154160;35251023;35318648;35561310;36510145;36581221;38725030;6832622;7626145;8045293;8298639;8490646;8490659;8692836;9147644;9307043", "class_list": "", "function": "Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids, phosphatidylserines (PS) and phosphatidylethanolamines (PE), from the outer to the inner leaflet of intracellular membranes (PubMed:30018401). May contribute to the maintenance of membrane lipid asymmetry in endosome compartment (PubMed:30018401)., [UniProtKB, PubMed]; Genetic analysis of the ATP11B gene in Chinese Han population with cerebral small vessel disease. Publication Status: Online-Only, [RefSeq, PubMed]; LINC00606 promotes glioblastoma progression through sponge miR-486-3p and interaction with ATP11B. Publication Status: Online-Only, [RefSeq, PubMed]; P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]., [RefSeq]; The region containing transmembrane domain 4, corresponding to exon 12, is present in the human homolog of the gene, ATP11B, [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": 1, "reported_glycation": 0, "reported_snv": 30, "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": "Q96FN1;Q9UKK7", "ec_number_list": "3.2.1.25;7.6.2.1;3.5.1.92;3.6.5.2;3.2.1.20;2.5.1.18;2.4.1.-;2.4.1.275;2.4.1.22;2.4.1.38;2.4.1.90;3.1.3.5;3.1.3.2;3.1.3.48;3.4.16.2;3.4.23.-;7.6.2.-;2.3.1.51;2.3.1.23;2.3.1.67;2.3.1.25", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0090556 phosphatidylserine floppase activity;GO:0015075 monoatomic ion transmembrane transporter activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0055037 recycling endosome", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0034220 monoatomic ion transmembrane transport;GO:0045332 phospholipid translocation;GO:0015917 aminophospholipid transport;GO:0015914 phospholipid transport", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q9Y2G3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92574-1", "uniprot_id": "TSC1_HUMAN", "mass": 129767.0, "length": 1164, "protein_name": "Hamartin", "gene_name": "TSC1", "organism": "Human", "refseq_name": "hamartin isoform 1", "refseq_ac": "NP_000359", "gene_names_uniprotkb": "TSC1; KIAA0243; TSC", "gene_names_refseq": "LAM; TSC1; TSC", "protein_names_uniprotkb": "Hamartin; Tuberous sclerosis 1 protein", "protein_names_refseq": "hamartin isoform 1; hamartin; tuberous sclerosis 1 protein", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); spinal disease (Disease Ontology:DOID:0060564); anterior segment dysgenesis (Disease Ontology:DOID:0060648); tuberous sclerosis 1 (Disease Ontology:DOID:0080324); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); intellectual disability (Disease Ontology:DOID:1059); tuberous sclerosis (Disease Ontology:DOID:13515); breast cancer (Disease Ontology:DOID:1612); lymphangioleiomyomatosis (Disease Ontology:DOID:3319); pleomorphic xanthoastrocytoma (Disease Ontology:DOID:4852); obesity (Disease Ontology:DOID:9970); isolated focal cortical dysplasia type II (MONDO:MONDO:0011818)", "pathway": " (hsa:7248); (R-HSA-1632852); (R-HSA-165181); (R-HSA-380972); (R-HSA-5628897); (R-HSA-8854214)", "pathway_count": 6, "publication_count": 206, "publication_id_list": "10202141;10227394;10329961;10533067;10533069;10570911;10585443;10607950;10716435;10745013;10874311;10980602;11018120;11029283;11034341;11096062;11237011;11340051;11486029;11545734;11825910;11829138;11959846;12112044;12161445;12172553;12203114;12271141;12438239;12453409;12714747;12805220;12869586;12906785;13298683;13538944;14511394;14517248;14551205;14614828;14651849;14985505;15105503;15187094;15223;15314020;15340059;15579580;15589136;15963462;16055087;16140933;16395330;16413492;16464865;16636147;16728594;16760263;16839880;16943194;16963840;17298220;17486094;17525332;17540029;17618624;17658474;17693255;17901050;18088087;18198340;18199687;18212344;18319245;18321988;18344994;18381890;18397877;18411301;18439900;18466115;18669648;18692468;18830229;19113821;19188143;19211835;19322194;19413330;19439913;19487573;19590496;19664994;19690332;19822145;19855179;19898463;20006582;20058876;20059746;20080666;20095038;20116244;20182617;20351271;20363736;20378837;20404108;20713597;20921139;21177865;21205641;21258367;21383079;21383122;21458671;21460621;21750704;21819378;21958598;22161988;22170151;22219378;22363791;22613832;22682742;22762500;22795129;22848663;22854040;23019362;23186163;23202584;23301498;23481700;23562278;23685627;23727157;23775793;23884233;24066844;24135021;24275569;24366874;24383451;24529379;24715725;24718924;24747438;24954904;25484072;25568151;25579166;26652033;26768311;26893383;27846572;28215400;28561026;28561066;28832583;28904123;29127155;29242379;29557506;29632046;31154438;31548312;31844290;31998317;32157095;32161166;32357974;32387766;32938616;32938750;33215753;33298915;33436626;33592498;33691108;33912179;33968037;34171305;34405274;34509645;35051231;35494241;36010968;36241641;36476861;39432612;40307207;5666113;7628435;7979252;7989588;8119488;8549768;8779952;9242607;9328481;9580671;9809973;9924605;9926927", "class_list": "", "function": "Identification of a novel TSC1 variant in a family with developmental and epileptic encephalopathies: A case report and literature review. Review article, [RefSeq, PubMed]; Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:12172553, PubMed:12271141, PubMed:12906785, PubMed:15340059, PubMed:24529379, PubMed:28215400). The TSC-TBC complex acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1 (PubMed:12906785, PubMed:15340059, PubMed:24529379). In absence of nutrients, the TSC-TBC complex inhibits mTORC1, thereby preventing phosphorylation of ribosomal protein S6 kinase (RPS6KB1 and RPS6KB2) and EIF4EBP1 (4E-BP1) by the mTORC1 signaling (PubMed:12271141, PubMed:24529379, PubMed:28215400, PubMed:33215753). The TSC-TBC complex is inactivated in response to nutrients, relieving inhibition of mTORC1 (PubMed:12172553, PubMed:24529379). Within the TSC-TBC complex, TSC1 stabilizes TSC2 and prevents TSC2 self-aggregation (PubMed:10585443, PubMed:28215400). Acts as a tumor suppressor (PubMed:9242607). Involved in microtubule-mediated protein transport via its ability to regulate mTORC1 signaling (By similarity). Also acts as a co-chaperone for HSP90AA1 facilitating HSP90AA1 chaperoning of protein clients such as kinases, TSC2 and glucocorticoid receptor NR3C1 (PubMed:29127155). Increases ATP binding to HSP90AA1 and inhibits HSP90AA1 ATPase activity (PubMed:29127155). Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:29127155). Recruits TSC2 to HSP90AA1 and stabilizes TSC2 by preventing the interaction between TSC2 and ubiquitin ligase HERC1 (PubMed:16464865, PubMed:29127155)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The TSC1-TSC2 complex inhibits mTORC1 and activates mTORC2, which through different mechanisms promotes Akt activation, [RefSeq, PubMed]; This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including TSC2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]., [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": 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": 16, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 96, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B7Z897;Q5VVN5", "ec_number_list": "", "go_molecular_function": "GO:0051087 protein-folding chaperone binding;GO:0051879 Hsp90 protein binding;GO:0030544 Hsp70 protein binding;GO:0042030 ATPase inhibitor activity;GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0033596 TSC1-TSC2 complex;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0036294 cellular response to decreased oxygen levels;GO:0008285 negative regulation of cell population proliferation;GO:0008306 associative learning;GO:0008344 adult locomotory behavior;GO:0007160 cell-matrix adhesion", "synthesized_glycan_count": 0, "hit_score": 21.0, "record_id": "Q92574-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NWL6-1", "uniprot_id": "ASND1_HUMAN", "mass": 72080.0, "length": 643, "protein_name": "Asparagine synthetase domain-containing protein 1", "gene_name": "ASNSD1", "organism": "Human", "refseq_name": "asparagine synthetase domain-containing protein 1", "refseq_ac": "NP_001340426", "gene_names_uniprotkb": "ASNSD1; NS3TP1; Nbla00058", "gene_names_refseq": "ASNSD1; NBLA00058; NS3TP1", "protein_names_uniprotkb": "Asparagine synthetase domain-containing protein 1; HCV NS3-transactivated protein 1", "protein_names_refseq": "HCV NS3-transactivated protein 1; asparagine synthetase domain-containing protein 1", "tax_id": 9606, "disease": "myopathy (Disease Ontology:DOID:423)", "pathway": " (hsa:54529)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11237011;12880961;16534843;20068231;23160002;23481700;23950983;25576301;25857697;25880248;26992070;27600516;27846572;27862975;28218747;28228285;28832583;28834231;28904123;29242379;29493099;29557506;29632711;29786170;30315122;31154438;31530632;31844290;31848261;32157095;32161166;32938616;33141586;33298915;33592498;33717175;33968037;34087483;34405274;34932366;35051231;35561310;35580925;36010968;36284347", "class_list": "", "function": "Normal human HL-7702 hepatocytes can efficiently express specific HCV NS3 protein in vitro., [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": 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": "D3DPH6;Q3LIC3;Q4ZG45", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0070981 L-asparagine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9NWL6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PJG6-1", "uniprot_id": "BRAT1_HUMAN", "mass": 88119.0, "length": 821, "protein_name": "Integrator complex assembly factor BRAT1", "gene_name": "BRAT1", "organism": "Human", "refseq_name": "integrator complex assembly factor BRAT1 isoform 2", "refseq_ac": "NP_689956", "gene_names_uniprotkb": "BRAT1; BAAT1; C7orf27", "gene_names_refseq": "BAAT1; BRAT1; C7orf27; NEDCAS; RMFSL", "protein_names_uniprotkb": "Integrator complex assembly factor BRAT1; BRCA1-associated ATM activator 1; BRCA1-associated protein required for ATM activation protein 1", "protein_names_refseq": "BRCA1-associated protein required for ATM activation protein 1; HEAT repeat-containing protein C7orf27; integrator complex assembly factor BRAT1 isoform 2; integrator complex assembly factor BRAT1", "tax_id": 9606, "disease": "neonatal-onset encephalopathy with rigidity and seizures (MONDO:MONDO:0013784); neurodevelopmental disorder with cerebellar atrophy and with or without seizures (MONDO:MONDO:0020841)", "pathway": " (hsa:221927)", "pathway_count": 1, "publication_count": 86, "publication_id_list": "11237011;16452482;16964243;18669648;18691976;20068231;22279524;22977523;23186163;23301498;23481700;24366607;24714562;24715725;25070371;25319849;25500575;25576301;25631046;25657994;26154972;26375851;26483087;26494257;26535877;26947546;26992070;27282546;27600516;27846572;27920218;28228285;28514659;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29786170;30315122;30379171;30410026;30429286;30484775;30524438;31154438;31217245;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33633747;33912179;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34725712;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36599696;37344571;38805275;39032489;39032490;40307207", "class_list": "", "function": "BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients., [RefSeq, PubMed]; Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy., [RefSeq, PubMed]; Component of a multiprotein complex required for the assembly of the RNA endonuclease module of the integrator complex (PubMed:39032489, PubMed:39032490). Associates with INTS9 and INTS11 in the cytoplasm and blocks the active site of INTS11 to inhibit the endonuclease activity of INTS11 before formation of the full integrator complex (PubMed:39032489, PubMed:39032490). Following dissociation of WDR73 of the complex, BRAT1 facilitates the nuclear import of the INTS9-INTS11 heterodimer (PubMed:39032489). In the nucleus, INTS4 is integrated to the INTS9-INTS11 heterodimer and BRAT1 is released from the mature RNA endonuclease module by inositol hexakisphosphate (InsP6) (PubMed:39032489). BRAT1 is also involved in DNA damage response; activates kinases ATM, SMC1A and PRKDC by modulating their phosphorylation status following ionizing radiation (IR) stress (PubMed:16452482, PubMed:22977523). Plays a role in regulating mitochondrial function and cell proliferation (PubMed:25070371). Required for protein stability of MTOR and MTOR-related proteins, and cell cycle progress by growth factors (PubMed:25657994)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Neuronal differentiation requires BRAT1 complex to remove REST from chromatin., [RefSeq, PubMed]; Study identified sequence variants in the known disease-causing genes SLC6A3 and FLVCR1, and present evidence to strongly support the pathogenicity of variants identified in TUBGCP6, BRAT1, SNIP1, CRADD, and HARS., [RefSeq, PubMed]; The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex BASC (BRAC1-associated genome surveillance complex). The protein encoded by this gene is thought to play a role in the DNA damage pathway regulated by BRCA1 and ATM. [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": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 13, "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": "A4D200;C9JY24;Q8IW85;Q8IZ43;Q8WVR8;Q96IV9;Q9H7J8;Q9UFA3", "ec_number_list": "", "go_molecular_function": "GO:0008428 ribonuclease inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0001934 positive regulation of protein phosphorylation;GO:0008283 cell population proliferation;GO:0016477 cell migration;GO:0030307 positive regulation of cell growth;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q6PJG6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IYX3-2", "uniprot_id": "CC116_HUMAN", "mass": 67946.0, "length": 613, "protein_name": "Coiled-coil domain-containing protein 116", "gene_name": "CCDC116", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 116 isoform 2", "refseq_ac": "NP_001317995", "gene_names_uniprotkb": "CCDC116", "gene_names_refseq": "CCDC116", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 116", "protein_names_refseq": "coiled-coil domain-containing protein 116 isoform 2; coiled-coil domain-containing protein 116", "tax_id": 9606, "disease": "lung cancer (Disease Ontology:DOID:1324)", "pathway": " (hsa:164592)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "23072936;25074808;28653172;29351928;35051231;37340703", "class_list": "", "function": "Our results suggest that a slight change in CCDC116 expression in normal tissues can confer risk to corresponding cancers., [RefSeq, PubMed]; The CCDC116 protein is expressed in all islet cell types except the glucagon and ghrelin 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": 1, "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": 0, "reported_glycation": 0, "reported_snv": 19, "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": "B7Z7H5;Q8N9Y9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8IYX3-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15582-1", "uniprot_id": "BGH3_HUMAN", "mass": 74681.0, "length": 683, "protein_name": "Transforming growth factor-beta-induced protein ig-h3", "gene_name": "TGFBI", "organism": "Human", "refseq_name": "transforming growth factor-beta-induced protein ig-h3 precursor", "refseq_ac": "NP_000349", "gene_names_uniprotkb": "TGFBI; BIGH3", "gene_names_refseq": "BIGH3; CDB1; CDG2; CDGG1; CSD1; CSD2; CSD3; CSD; EBMD; LCD1; TGFBI", "protein_names_uniprotkb": "Transforming growth factor-beta-induced protein ig-h3; Beta ig-h3; Kerato-epithelin; RGD-CAP; RGD-containing collagen-associated protein", "protein_names_refseq": "RGD-CAP; RGD-containing collagen-associated protein; beta ig-h3; betaig-h3; kerato-epithelin; transforming growth factor beta-induced 68kDa; transforming growth factor, beta-induced, 68kD; transforming growth factor-beta-induced protein ig-h3 precursor; transforming growth factor-beta-induced protein ig-h3", "tax_id": 9606, "disease": "granular corneal dystrophy 2 (Disease Ontology:DOID:0060444); epithelial basement membrane dystrophy (Disease Ontology:DOID:0060447); Reis-Bucklers corneal dystrophy (Disease Ontology:DOID:0060453); Thiel-Behnke corneal dystrophy (Disease Ontology:DOID:0060455); granular corneal dystrophy 1 (Disease Ontology:DOID:0080530); corneal dystrophy (Disease Ontology:DOID:2566); kidney disease (Disease Ontology:DOID:557); lattice corneal dystrophy (Disease Ontology:DOID:8943); corneal dystrophy, lattice type 3A (MONDO:MONDO:0012044)", "pathway": " (hsa:7045); (R-HSA-977225)", "pathway_count": 2, "publication_count": 131, "publication_id_list": "10.1038/emboj.2013.79;10097139;10319874;10328397;10391242;10411933;10425035;10583407;10660331;10837380;10865320;10956649;11024425;11237011;11278841;11297504;11401442;11413411;11467836;11501939;11590439;118839;11923233;12454989;1270801;12782158;1388724;14506261;14567678;14597039;15064394;15531312;15623763;15790870;15838722;15962837;16174740;16541014;16636649;16652336;16799559;17013691;17425515;18065497;18070888;1837051;18449172;18450759;18484335;1849145;19011241;19658395;19828817;20676056;20807650;2118650;2195544;22065755;22131221;23584533;23719902;23783831;23813966;2409350;24275569;24833601;24893886;25523424;25645385;26018760;26273833;26417681;26668317;26686862;26807092;27609313;27726376;279930;2900981;29557506;29632711;3035556;30429286;3053705;3080684;3094007;3142462;31844290;32157095;32162841;32387766;32488085;32897882;32937590;32938616;32983136;33043033;33091337;33392160;33592498;33968037;34171305;34185709;34357683;34509645;35051231;35154160;35580925;36241641;3675579;38395907;38577561;38596938;38665916;38849015;8024701;8033412;8077289;8097946;8114934;8159701;8464497;8490014;8870004;9006323;9054935;9463327;9497262;9780098;9799082;9862427", "class_list": "", "function": "BIGH3 mediates apoptosis and gap junction failure in osteocytes during renal cell carcinoma bone metastasis progression., [RefSeq, PubMed]; Distribution of TGFBI variants in patients with early onset glaucoma. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of TGFBI in infantile hemangioma tissues and its effect on the biological characteristics of hemangioma endothelial cells., [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]; Plays a role in cell adhesion (PubMed:8024701). May play a role in cell-collagen interactions (By similarity)., [UniProtKB, UniProtKB, PubMed]; Plays a role in cell adhesion. May play a role in cell-collagen interactions., [UniProtKB, UniProtKB]; This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 2, "disease_count": 9, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D3DQB1;O14471;O14472;O14476;O43216;O43217;O43218;O43219;Q53XM1", "ec_number_list": "", "go_molecular_function": "GO:0005178 integrin binding;GO:0042802 identical protein binding;GO:0005518 collagen binding;GO:0050839 cell adhesion molecule binding;GO:0050840 extracellular matrix binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0001525 angiogenesis;GO:0007155 cell adhesion;GO:0007162 negative regulation of cell adhesion;GO:0008283 cell population proliferation;GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "Q15582-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WXF7-1", "uniprot_id": "ATLA1_HUMAN", "mass": 63544.0, "length": 558, "protein_name": "Atlastin-1", "gene_name": "ATL1", "organism": "Human", "refseq_name": "atlastin-1 isoform b", "refseq_ac": "NP_001121185", "gene_names_uniprotkb": "ATL1; GBP3; SPG3A; SPG3", "gene_names_refseq": "AD-FSP; ATL-1; ATL1; FSP1; HSN1D; SPG3A; SPG3; atlastin1", "protein_names_uniprotkb": "Atlastin-1; 3.6.5.-; ATL-1; Brain-specific GTP-binding protein; GBP-3; GTP-binding protein 3; Guanine nucleotide-binding protein 3; Spastic paraplegia 3 protein A; hGBP3", "protein_names_refseq": "atlastin-1 isoform b; atlastin-1; spastic paraplegia 3 protein A", "tax_id": 9606, "disease": "hereditary sensory neuropathy type 1D (Disease Ontology:DOID:0070156); hereditary spastic paraplegia 3A (Disease Ontology:DOID:0110791); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:51062)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "11237011;11685207;12112092;12387898;12939451;14506257;14695538;15184642;16339213;16533974;16815977;17321752;17427918;18088087;18270207;19665976;20200447;20718791;20932283;21194679;21220294;21336785;21368113;22424782;22544926;23334294;23481700;23483706;23969831;24473461;24604904;25751282;27619977;30429286;30524438;32157095;32502341;32897882;32938616;33141586;33298915;33537174;33592498;33691108;33717175;33936100;33968037;33981976;34171305;34405274;34509645;34546351;34817557;35051231;35561310;35580925;36010968;36241641;38206305;38509071;38851544;39003427", "class_list": "", "function": "Atlastin-1 (ATL1) is a membrane-anchored GTPase that mediates the GTP-dependent fusion of endoplasmic reticulum (ER) membranes, maintaining the continuous ER network. It facilitates the formation of three-way junctions where ER tubules intersect (PubMed:14506257, PubMed:18270207, PubMed:19665976, PubMed:27619977, PubMed:34817557, PubMed:38509071). Two atlastin-1 on neighboring ER tubules bind GTP and form loose homodimers through the GB1/RHD3-type G domains and 3HB regions. Upon GTP hydrolysis, the 3HB regions tighten, pulling the membranes together to drive their fusion. After fusion, the homodimer disassembles upon release of inorganic phosphate (Pi). Subsequently, GDP dissociates, resetting the monomers to a conformation ready for a new fusion cycle (PubMed:14506257, PubMed:21220294, PubMed:21368113, PubMed:23334294, PubMed:38509071). May also regulate more or less directly Golgi biogenesis (PubMed:17321752). Indirectly regulates axonal development (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Atlastin-1 regulates endosomal tubulation and lysosomal proteolysis in human cortical neurons., [RefSeq, PubMed]; Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A., [RefSeq, PubMed]; Targeting of FSP1 regulates iron homeostasis in drug-tolerant persister head and neck cancer cells via lipid-metabolism-driven ferroptosis., [RefSeq, PubMed]; The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; This study reports a novel mutation in the SPG3A gene in a family with spastic paraplegia, further confirming that mutations in this gene cause autosomal dominant hereditary spastic paraplegia., [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": 16, "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": "A6NND5;A8K2C0;G5E9T1;O95890;Q69YH7;Q96FK0", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;3.6.1.-;3.6.5.4;2.7.11.1;3.6.-.-;3.6.1.15;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0042802 identical protein binding;GO:0140523 GTPase-dependent fusogenic activity", "go_cellular_component": "GO:1990674 Golgi cis cisterna membrane;GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0030424 axon", "go_biological_process": "GO:0007409 axonogenesis;GO:0051260 protein homooligomerization;GO:1990809 endoplasmic reticulum tubular network membrane organization;GO:0007029 endoplasmic reticulum organization;GO:0016320 endoplasmic reticulum membrane fusion", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q8WXF7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P27701-1", "uniprot_id": "CD82_HUMAN", "mass": 29626.0, "length": 267, "protein_name": "CD82 antigen", "gene_name": "CD82", "organism": "Human", "refseq_name": "CD82 antigen isoform 2", "refseq_ac": "NP_001020015", "gene_names_uniprotkb": "CD82; KAI1; SAR2; ST6; TSPAN27", "gene_names_refseq": "4F9; C33; CD82; GR15; IA4; KAI1; R2; SAR2; ST6; TSPAN27", "protein_names_uniprotkb": "CD82 antigen; C33 antigen; IA4; Inducible membrane protein R2; Metastasis suppressor Kangai-1; Suppressor of tumorigenicity 6 protein; Tetraspanin-27; Tspan-27", "protein_names_refseq": "C33 antigen; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4)); CD82 antigen isoform 2; inducible membrane protein R2; kangai 1 (suppression of tumorigenicity 6, prostate; metastasis suppressor Kangai-1; tetraspanin-27; tspan-27", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); ovarian cancer (Disease Ontology:DOID:2394); transitional cell carcinoma (Disease Ontology:DOID:2671); endometrial carcinoma (Disease Ontology:DOID:2871); breast carcinoma (Disease Ontology:DOID:3459); cervical squamous cell carcinoma (Disease Ontology:DOID:3744)", "pathway": " (hsa:3732)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "10.1101/2023.09.13.557529;10985391;11237011;12750295;1401919;15557282;15677461;17560548;1842498;19159218;19349973;19497983;23090970;23481700;23897813;24190977;24623721;24714562;25880248;26375851;26728094;27600516;27862975;28228285;28467828;28832583;28904123;29242379;29508533;29741879;30463011;30779550;31844290;32157095;32350084;32357974;32488085;32938616;33298915;33592498;33717175;33912179;33968037;34078123;34357683;34433824;34530889;34725712;35051231;35538033;35580925;36116374;36595821;36945827;37074911;37434585;38253038;38473906;38515751;38821592;7754374;8757325;9126478", "class_list": "", "function": "CD81 and CD82 expressing tumor-infiltrating lymphocytes in the NSCLC tumor microenvironment play a crucial role in T-cell activation and cytokine production. Publication Status: Online-Only, [RefSeq, PubMed]; DNA Hypermethylation Inhibits the CD82 Metastasis Suppressor Gene in Gastric Cancer., [RefSeq, PubMed]; Expression of KAI1 and AGR2 in lung adenocarcinoma and their clinicopathological significance., [RefSeq, PubMed]; Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling (PubMed:19497983). Participates thereby in diverse biological functions such as cell signal transduction, adhesion, migration and protein trafficking. Acts as a attenuator of EGF signaling, facilitating ligand-induced endocytosis of the receptor and its subsequent desensitization (PubMed:10985391, PubMed:35538033). Mechanistically, modulates ligand-induced ubiquitination and trafficking of EGFR via E3 ligase CBL phosphorylation by PKC (PubMed:23897813). Increases cell-matrix adhesion by regulating the membrane organization of integrin alpha4/ITA4 (PubMed:24623721, PubMed:8757325). Modulates adhesion and suppresses cell migration through other integrins such as the alpha6/ITGA6 and beta1/ITGB1 (PubMed:15557282, PubMed:17560548). Decreases cell-associated plasminogen activation by interfering with the interaction between urokinase-type plasminogen activator/PLAU and its receptor PLAUR (PubMed:15677461). Associates with CD4 or CD8 and delivers costimulatory signals for the TCR/CD3 pathway. Plays a role in TLR9 trafficking to acidified CpG-containing compartments by controlling interaction between TLR9 and VAMP3 and subsequent myddosome assembly (By similarity). Inhibits LPS-induced inflammatory response by preventing binding of LPS to TLR4 on the cell surface (PubMed:36945827). Plays a role in the activation of macrophages into anti-inflammatory phenotypes (By similarity). Independently of Toll-like receptor (TLR) signaling, is recruited to pathogen-containing phagosomes prior to fusion with lysosomes and thereby participates in antigen presentation (By similarity). Also acts to control angiogenesis and switch angiogenic milieu to quiescent state by binding and sequestering VEGFA and PDGFB to inhibit the signaling they trigger via their respective cell surface receptor (PubMed:34530889)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin., [RefSeq, PubMed]; Tetraspanin CD82 Correlates with and May Regulate S100A7 Expression in Oral Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This metastasis suppressor gene product is a membrane glycoprotein that is a member of the transmembrane 4 superfamily. Expression of this gene has been shown to be downregulated in tumor progression of human cancers and can be activated by p53 through a consensus binding sequence in the promoter. Its expression and that of p53 are strongly correlated, and the loss of expression of these two proteins is associated with poor survival for prostate cancer patients. Two alternatively spliced transcript variants encoding distinct 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": 3, "mined_n_glycosites": 3, "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 8, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "D3DQN6;E9PC70;Q7Z2D4;Q7Z5N2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0045335 phagocytic vesicle;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P27701-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75956-1", "uniprot_id": "CDKA2_HUMAN", "mass": 13101.0, "length": 126, "protein_name": "Cyclin-dependent kinase 2-associated protein 2", "gene_name": "CDK2AP2", "organism": "Human", "refseq_name": "cyclin-dependent kinase 2-associated protein 2 isoform 1", "refseq_ac": "NP_005842", "gene_names_uniprotkb": "CDK2AP2; DOC1R", "gene_names_refseq": "CDK2AP2; DOC-1R; DOC1R; p14", "protein_names_uniprotkb": "Cyclin-dependent kinase 2-associated protein 2; CDK2-associated protein 2; DOC-1-related protein; DOC-1R", "protein_names_refseq": "CDK2-associated protein 2; DOC-1-related protein; cyclin-dependent kinase 2-associated protein 2 isoform 1; tumor suppressor deleted in oral cancer related 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10263); (R-HSA-9937850); (R-HSA-9940951)", "pathway_count": 3, "publication_count": 69, "publication_id_list": "10082655;10204490;10970879;10978333;11237011;12183469;12504854;14985111;15456747;15516265;15643425;15701600;16415179;16428440;16707490;17646674;18571423;20523938;21490301;22398447;23239876;23361464;23781148;24252660;24307175;24385926;24554700;24714562;24920672;25150861;25576301;25593309;25675191;25753662;26375851;26728094;26992070;27633282;27732854;27806305;28533432;28977666;29042441;30045876;30122475;30134174;30228260;30327463;30980593;31154438;31746185;31844290;32502341;32938616;33264408;33283408;33717175;33912179;33936100;35580925;36008597;36284347;38253038;39113208;7969165;9427644;9512513;9804427;9885572", "class_list": "", "function": "Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:33283408). Inhibits cell cycle G1/S phase transition by repressing CDK2 expression and activation; represses CDK2 activation by inhibiting its interaction with cyclin E and A (PubMed:23781148). Plays a role in regulating the self-renewal of embryonic stem cells (ESCs) and in maintaining cell survival during terminal differentiation of ESCs (By similarity). Regulates microtubule organization of metaphase II oocytes (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Antitumor effects of DOC-1R may be mediated by negatively regulating G1 phase progression and G1/S transition through inhibiting CDK2 expression and activation Publication Status: Online-Only, [RefSeq, PubMed]; Novel circular RNA hsa_circ_0036683 suppresses proliferation and migration by mediating the miR-4664-3p/CDK2AP2 axis in non-small cell lung cancer., [RefSeq, PubMed]; Our findings suggest that alteration of p16, p14, p27, p21, and p53 status may contribute to carcinogenesis and the clinical behavior of HPV-negative adenocarcinoma of the uterine cervix, [RefSeq, PubMed]; This gene encodes a protein that interacts with cyclin-dependent kinase 2 associated protein 1. Pseudogenes associated with this gene are located on chromosomes 7 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]., [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": 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": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0016581 NuRD complex", "go_biological_process": "GO:2000134 negative regulation of G1/S transition of mitotic cell cycle;GO:2000035 regulation of stem cell division;GO:0070507 regulation of microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "O75956-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P56211-1", "uniprot_id": "ARP19_HUMAN", "mass": 12323.0, "length": 112, "protein_name": "cAMP-regulated phosphoprotein 19", "gene_name": "ARPP19", "organism": "Human", "refseq_name": "cAMP-regulated phosphoprotein 19 isoform 1", "refseq_ac": "NP_001293120", "gene_names_uniprotkb": "ARPP19", "gene_names_refseq": "ARPP-16; ARPP-19; ARPP16; ARPP19; ENSAL", "protein_names_uniprotkb": "cAMP-regulated phosphoprotein 19; ARPP-19", "protein_names_refseq": "cAMP-regulated phosphoprotein 19 isoform 1; cAMP-regulated phosphoprotein 19kDa; cyclic AMP phosphoprotein, 19 kD", "tax_id": 9606, "disease": "", "pathway": " (hsa:10776); (R-HSA-2465910)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "10754390;11237011;11279279;16600872;17893145;17924679;18212344;19413330;19608861;19664994;20058876;20068231;20218812;21164013;21164014;21444715;22354989;23186163;24714562;24715725;25502872;25810538;26992070;28167675;28228285;28613156;28832583;28904123;29242379;29393594;29508533;30484775;31222486;31844290;31848261;31943339;32077747;32085646;32157095;32983136;33091337;33298915;33691108;33842550;33981976;34932366;35051231;35251023;35318648;35561310;35580925;36010968;38123684;8120638;9653196", "class_list": "", "function": "Long Noncoding RNA DLX6-AS1 Promotes the Progression in Cervical Cancer by Targeting miR-16-5p/ARPP19 Axis., [RefSeq, PubMed]; Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) (PubMed:28167675, PubMed:38123684). Inhibition of PP2A is enhanced when ARPP19 is phosphorylated (PubMed:28167675, PubMed:38123684). When phosphorylated at Ser-62 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its activity, leading to inactivation of PP2A, an essential condition to keep cyclin-B1-CDK1 activity high during M phase (PubMed:21164014). May indirectly enhance GAP-43 expression (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The 19-kD cAMP-regulated phosphoprotein plays a role in regulating mitosis by inhibiting protein phosphatase-2A (PP2A; see MIM 176915) (summary by Gharbi-Ayachi et al., 2010 [PubMed 21164014]).[supplied by OMIM, Feb 2011]., [RefSeq]; The cAMP-regulated phosphoprotein 19 (ARPP19) was a direct target of miR-802 and could reverse the inhibitory function of miR-802. These data suggest that the IGFL2-AS1/miR-802/ARPP19 axis plays a critical role in the progression and metastasis of gastric 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": 9, "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": "B2R497;Q6IAM2;Q86TA6;Q9UD70", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0015459 potassium channel regulator activity;GO:0019888 protein phosphatase regulator activity;GO:0051721 protein phosphatase 2A binding;GO:0019212 phosphatase inhibitor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0051301 cell division;GO:0000086 G2/M transition of mitotic cell cycle;GO:0046326 positive regulation of D-glucose import;GO:0045722 positive regulation of gluconeogenesis", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "P56211-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3KNV8-1", "uniprot_id": "PCGF3_HUMAN", "mass": 28115.0, "length": 242, "protein_name": "Polycomb group RING finger protein 3", "gene_name": "PCGF3", "organism": "Human", "refseq_name": "polycomb group RING finger protein 3 isoform a", "refseq_ac": "NP_001304765", "gene_names_uniprotkb": "PCGF3; RNF3A; RNF3", "gene_names_refseq": "DONG1; PCGF3; RNF3A; RNF3", "protein_names_uniprotkb": "Polycomb group RING finger protein 3; RING finger protein 3A", "protein_names_refseq": "RING finger protein 3A; polycomb group RING finger protein 3 isoform a; polycomb group RING finger protein 3; ring finger protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:10336)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;23481700;26151332;27568929;29589913;31844290;32357974;32387766;32397904;32938616;33485844;33537174;33968037;34405274;34509645;35051231", "class_list": "", "function": "Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332). Plays a redundant role with PCGF5 as part of a PRC1-like complex that mediates monoubiquitination of histone H2A 'Lys-119' on the X chromosome and is required for normal silencing of one copy of the X chromosome in XX females (By similarity)., [UniProtKB, PubMed, UniProtKB]; PCGF3 promotes the proliferation and migration of non-small cell lung cancer cells via the PI3K/AKT signaling pathway., [RefSeq, PubMed]; PNPT1 and PCGF3 variants associated with angiotensin-converting enzyme inhibitor-induced cough: a nested case-control genome-wide study., [RefSeq, PubMed]; The protein encoded by this gene contains a C3HC4 type RING finger, which is a motif known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; We demonstrate that promoter binding by TRF2 mediates PCGF3 promoter activity, and both the N-terminal and C-terminal domains of TRF2 are necessary for promoter 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "D3DVN1;O15262", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0140862 histone H2AK119 ubiquitin ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0031519 PcG protein complex;GO:0035102 PRC1 complex", "go_biological_process": "GO:0060816 random inactivation of X chromosome;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q3KNV8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6C2-1", "uniprot_id": "EMIL1_HUMAN", "mass": 106695.0, "length": 1016, "protein_name": "EMILIN-1", "gene_name": "EMILIN1", "organism": "Human", "refseq_name": "EMILIN-1 precursor", "refseq_ac": "NP_008977", "gene_names_uniprotkb": "EMILIN1; EMI", "gene_names_refseq": "ATBFS; EMILIN1; EMILIN; EMI; HMN10; HMND10; gp115", "protein_names_uniprotkb": "EMILIN-1; Elastin microfibril interface-located protein 1; Elastin microfibril interfacer 1", "protein_names_refseq": "EMILIN-1 precursor; elastin microfibril interface-located protein 1", "tax_id": 9606, "disease": "autosomal dominant distal hereditary motor neuronopathy 10 (Disease Ontology:DOID:0081399); arterial tortuosity-bone fragility syndrome (MONDO:MONDO:0971179)", "pathway": " (hsa:11117); (R-HSA-2129379)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10.1038/emboj.2013.79;10025398;10358019;10424889;10544250;10625608;10646116;10930463;11237011;11278945;11970960;12358597;12415008;12429738;12456677;1400330;14701737;16263699;1708799;17324935;18339631;19023665;19159218;21646718;23090970;23481700;23584533;25645385;26462740;28657654;29242379;29557506;29741879;29769354;29786170;29789417;30429286;30459171;30524438;31222486;31844290;31848261;31978608;32157095;32387766;32897882;32938616;33592498;34185709;34932366;35051231;36284347;36351433;37024847;37074911;37217939;37938771;38427078;38505604;38665916;38941035;7500359;7534784;9725916", "class_list": "", "function": "Beta1 Integrin-dependent cell adhesion to this protein is mediated by its gC1q domain, [RefSeq, PubMed]; Cancer-associated fibroblast spatial heterogeneity and EMILIN1 expression in the tumor microenvironment modulate TGF-beta activity and CD8[+] T-cell infiltration in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Integrated machine learning-driven disulfidptosis profiling: CYFIP1 and EMILIN1 as therapeutic nodes in neuroblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in elastic and collagen fibers formation. It is required for EFEMP2 deposition into the extracellular matrix, and collagen network assembly and cross-linking via protein-lysine 6-oxidase/LOX activity (PubMed:36351433). May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved in the processes that regulate vessel assembly. Has cell adhesive capacity., [UniProtKB, PubMed]; The extracellular matrix protein EMILIN-1 impacts on the microenvironment by hampering gastric cancer development and progression., [RefSeq, PubMed]; The role of EMILIN-1 in the osteo/odontogenic differentiation of dental pulp stem cells. Erratum:[BMC Oral Health. 2025 Mar 21;25(1):419. doi: 10.1186/s12903-025-05759-z. PMID: 40119372] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 9, "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": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 60, "disease_count": 2, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "A0A0C4DFX3;A5PL03;H0Y7A0;Q53SY9;Q96G58;Q96IH6;Q9UG76", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0042802 identical protein binding;GO:0098640 integrin binding involved in cell-matrix adhesion;GO:0030023 extracellular matrix constituent conferring elasticity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0001527 microfibril", "go_biological_process": "GO:0050866 negative regulation of cell activation;GO:1905522 negative regulation of macrophage migration;GO:0007155 cell adhesion;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "Q9Y6C2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P15086-1", "uniprot_id": "CBPB1_HUMAN", "mass": 47368.0, "length": 417, "protein_name": "Carboxypeptidase B", "gene_name": "CPB1", "organism": "Human", "refseq_name": "carboxypeptidase B preproprotein", "refseq_ac": "NP_001862", "gene_names_uniprotkb": "CPB1; CPB; PCPB", "gene_names_refseq": "CPB1; CPB; PASP; PCPB", "protein_names_uniprotkb": "Carboxypeptidase B; 3.4.17.2; PASP; Pancreas-specific protein", "protein_names_refseq": "carboxypeptidase B preproprotein; carboxypeptidase B1 (tissue); carboxypeptidase B; pancreas-specific protein; pancreatic carboxypeptidase B; procarboxypeptidase B; protaminase; tissue carboxypeptidase B", "tax_id": 9606, "disease": "immunodeficiency 123 (Disease Ontology:DOID:0061089); diabetic angiopathy (Disease Ontology:DOID:11713); leukemia (Disease Ontology:DOID:1240); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); multiple sclerosis (Disease Ontology:DOID:2377); asthma (Disease Ontology:DOID:2841); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); rhinitis (Disease Ontology:DOID:4483); lymphopenia (Disease Ontology:DOID:614); pulmonary hypertension (Disease Ontology:DOID:6432); rheumatoid arthritis (Disease Ontology:DOID:7148); chronic fatigue syndrome (Disease Ontology:DOID:8544); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:1360); (R-HSA-2022377); (R-HSA-9925561)", "pathway_count": 3, "publication_count": 57, "publication_id_list": "10536878;10899625;10924499;10969042;11237011;11502696;11815627;12045255;12162965;12540854;12927775;1370825;14747736;15283675;16445295;1668266;16790432;17138938;17704566;1848554;1851160;19800993;20380117;20600119;20889553;22193701;2266130;23446738;24141856;2443571;2558510;25903579;26316592;2708524;2846041;28832583;2920728;29557506;29669919;3017438;33592498;34817877;35051231;36284347;383475;4289389;4322712;4330891;4360430;6269175;6270633;6303766;6807977;7980644;9169443;9524066;9570564", "class_list": "", "function": "Endoplasmic stress-inducing variants in CPB1 and CPA1 and risk of pancreatic cancer: A case-control study and meta-analysis., [RefSeq, PubMed]; Study indicates ER stress-inducing variants in CPB1 and CPA1 are associated with pancreatic cancer susceptibility and implicate ER stress in pancreatic acinar cells in pancreatic cancer development., [RefSeq, PubMed]; These findings indicate unique pro-metastatic mechanisms in grade 1 tumors that can include up-regulation of CPB1, activation of NF-kappaB pathway and changes in cell survival and cytoskeleton., [RefSeq, PubMed]; This study showed that CPA2 and CPB1 variants are not associated with chronic pancreatitis., [RefSeq, PubMed]; Three different procarboxypeptidases A and two different procarboxypeptidases B have been isolated. The B1 and B2 forms differ from each other mainly in isoelectric point. Carboxypeptidase B1 is a highly tissue-specific protein and is a useful serum marker for acute pancreatitis and dysfunction of pancreatic transplants. It is not elevated in pancreatic carcinoma. [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": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "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": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 14, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O60834;Q53XJ0;Q96BQ8", "ec_number_list": "3.1.1.4;3.2.1.1;3.4.21.35;3.4.21.4;4.6.1.18;3.4.21.71;3.4.21.70;3.4.17.1;3.4.17.2;3.1.1.3;3.1.1.13;3.1.1.6;3.4.21.-;3.4.17.15;3.1.1.26;5.3.4.1;2.1.1.20;3.4.17.20;3.4.21.2", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004180 carboxypeptidase activity;GO:0004181 metallocarboxypeptidase activity;GO:0008237 metallopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "P15086-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95639-1", "uniprot_id": "CPSF4_HUMAN", "mass": 30255.0, "length": 269, "protein_name": "Cleavage and polyadenylation specificity factor subunit 4", "gene_name": "CPSF4", "organism": "Human", "refseq_name": "cleavage and polyadenylation specificity factor subunit 4 isoform 2", "refseq_ac": "NP_001075028", "gene_names_uniprotkb": "CPSF4; CPSF30; NAR; NEB1", "gene_names_refseq": "CPSF30; CPSF4; NAR; NEB-1; NEB1", "protein_names_uniprotkb": "Cleavage and polyadenylation specificity factor subunit 4; CPSF 30 kDa subunit; Cleavage and polyadenylation specificity factor 30 kDa subunit; NS1 effector domain-binding protein 1; Neb-1; No arches homolog", "protein_names_refseq": "CPSF 30 kDa subunit; NS1 effector domain-binding protein 1; cleavage and polyadenylation specific factor 4, 30kDa; cleavage and polyadenylation specificity factor 30 kDa subunit; cleavage and polyadenylation specificity factor subunit 4 isoform 2; cleavage and polyadenylation specificity factor subunit 4; no arches homolog; no arches-like zinc finger protein", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); neurodegenerative disease (Disease Ontology:DOID:1289); osteochondrodysplasia (Disease Ontology:DOID:2256); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); viral infectious disease (Disease Ontology:DOID:934)", "pathway": " (hsa:10898); (R-HSA-159231); (R-HSA-168315); (R-HSA-6784531); (R-HSA-72187); (R-HSA-73856); (R-HSA-77595); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 9, "publication_count": 125, "publication_id_list": "10.1101/2023.09.13.557529;10205180;10444065;10669729;11014198;11060040;11237011;11421366;11455963;11727826;11747608;11871657;11979277;12138183;12526808;12667806;12711671;12729736;12871933;14519844;14749727;14762106;15037765;15084397;15109492;15120988;15317868;15565158;15998806;16361254;16710424;17128255;17190602;17204286;17224653;17317185;17984224;18226598;18288197;18411249;18669648;18809514;18957205;18984158;19217410;19413330;19494120;19651622;19664995;19690332;19836239;20058876;20068231;2017161;20573985;20630994;20695905;20844015;21102410;21295486;21311021;21406692;21450806;21559454;21593607;21911577;21947206;22207203;22813749;22928037;22944664;23186163;23222130;23299939;23582887;23804756;23874216;24076191;24149845;24244187;2470644;24870230;25301780;25301781;25640237;25662211;25836925;25849199;26092250;27108190;28096519;28911096;29186539;29274231;29902443;30139799;30257008;30379171;30599162;31844290;32157095;32816001;33177556;33298915;33912179;33936100;33981976;34006850;34019948;34103682;34932366;35177536;35215846;36567417;37217939;37629142;6930639;7759547;7828588;9224719;9512417;9651582;9659921;9660920;9986787", "class_list": "", "function": "CPSF4 promotes triple negative breast cancer metastasis by upregulating MDM4. Publication Status: Online-Only, [RefSeq, PubMed]; CPSF4 promotes tumor-initiating phenotype by enhancing VEGF/NRP2/TAZ signaling in lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; CPSF4 regulates circRNA formation and microRNA mediated gene silencing in hepatocellular carcinoma., [RefSeq, PubMed]; Cleavage and Polyadenylation-Specific Factor 4 (CPSF4) Expression Is Associated with Enhanced Prostate Cancer Cell Migration and Cell Cycle Dysregulation, In Vitro. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. CPSF4 binds RNA polymers with a preference for poly(U)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Inhibition of the nuclear export of poly(A)-containing mRNAs caused by the influenza A virus NS1 protein requires its effector domain. The NS1 effector domain functionally interacts with the cellular 30 kDa subunit of cleavage and polyadenylation specific factor 4, an essential component of the 3' end processing machinery of cellular pre-mRNAs. In influenza virus-infected cells, the NS1 protein is physically associated with cleavage and polyadenylation specific factor 4, 30kD subunit. Binding of the NS1 protein to the 30 kDa protein in vitro prevents CPSF binding to the RNA substrate and inhibits 3' end cleavage and polyadenylation of host pre-mRNAs. Thus the NS1 protein selectively inhibits the nuclear export of cellular, and not viral, mRNAs. Multiple alternatively spliced transcript variants that encode different isoforms have been described 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D6W5S8;Q6FGE6;Q86TF8;Q9BTW6", "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:0005847 mRNA cleavage and polyadenylation specificity factor complex", "go_biological_process": "GO:0031124 mRNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "O95639-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P48960-1", "uniprot_id": "AGRE5_HUMAN", "mass": 91869.0, "length": 835, "protein_name": "Adhesion G protein-coupled receptor E5", "gene_name": "ADGRE5", "organism": "Human", "refseq_name": "adhesion G protein-coupled receptor E5 isoform 3 preproprotein", "refseq_ac": "NP_001020331", "gene_names_uniprotkb": "ADGRE5; CD97", "gene_names_refseq": "ADGRE5; CD97; TM7LN1", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor E5; Leukocyte antigen CD97", "protein_names_refseq": "CD97 molecule; adhesion G protein-coupled receptor E5 isoform 3 preproprotein; leukocyte antigen CD97; seven transmembrane helix receptor; seven-span transmembrane protein; seven-transmembrane, heterodimeric receptor associated with inflammation", "tax_id": 9606, "disease": "attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); pancreatic cancer (Disease Ontology:DOID:1793)", "pathway": " (hsa:976); (R-HSA-373080); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 120, "publication_id_list": "10.1101/2023.09.13.557529;10097073;11237011;11297558;12098667;12559132;12829604;14647991;15498814;16602827;18507432;18512783;18578522;18669648;18691976;18767875;18801728;19159218;19349973;19651622;20068231;20166139;20966082;21156175;21654843;22299025;23090970;23186163;23650620;24190977;24714562;24715725;25502872;25576301;25892735;26024233;26154972;26992070;27846572;27920218;28228285;28467828;28832583;28834231;28871256;28904123;29242379;29314611;29351928;29393594;29493099;29557506;29632046;29632711;29741879;29769354;29786170;30315122;30459171;30573663;30626607;31154438;31222486;31530632;31611695;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32938616;32983136;33043033;33214551;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34357683;34411563;34433824;35051231;35154160;35251023;35289036;35580925;3616618;36215666;36241641;36581221;37074911;37907543;37938973;38215752;40596516;40914422;6950381;7636245;7797535;8082781;8198617;8386612;8397094;8557170;8612563;8692836;8732687;8770894;8786105;8906787;8955192;9064337", "class_list": "", "function": "Conformational transitions and activation of the adhesion receptor CD97., [RefSeq, PubMed]; Expression of the wild type - but not the GPS cleavage-deficient CD97 up-regulates the expression of N-cadherin, leading to Ca(++)-dependent cell-cell aggregation., [RefSeq, PubMed]; IL-8 is a novel prometastatic chemokine in intrahepatic cholangiocarcinoma that induces CXCR2-PI3K/AKT signaling upon CD97 activation. Erratum:[Sci Rep. 2024 Apr 11;14(1):8478. doi: 10.1038/s41598-024-58952-5. PMID: 38605065] Publication Status: Online-Only, [RefSeq, PubMed]; Receptor potentially involved in both adhesion and signaling processes early after leukocyte activation. Plays an essential role in leukocyte migration., [UniProtKB, UniProtKB]; The expression profile and tumorigenic mechanisms of CD97 (ADGRE5) in glioblastoma render it a targetable vulnerability., [RefSeq, PubMed]; This gene encodes a member of the EGF-TM7 subfamily of adhesion G protein-coupled receptors, which mediate cell-cell interactions. These proteins are cleaved by self-catalytic proteolysis into a large extracellular subunit and seven-span transmembrane subunit, which associate at the cell surface as a receptor complex. The encoded protein may play a role in cell adhesion as well as leukocyte recruitment, activation and migration, and contains multiple extracellular EGF-like repeats which mediate binding to chondroitin sulfate and the cell surface complement regulatory protein CD55. Expression of this gene may play a role in the progression of several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms with 3 to 5 EGF-like repeats have been observed for this gene. This gene is found in a cluster with other EGF-TM7 genes on the short arm of chromosome 19. [provided by RefSeq, Jun 2011]., [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": 9, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 10, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 55, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 44, "disease_count": 2, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "A8K7Z4;B2RBJ9;O00718;O76101;Q8NG72;Q8TBQ7", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0004930 G protein-coupled receptor activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0030667 secretory granule membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007155 cell adhesion;GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "P48960-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A7E2U8-1", "uniprot_id": "CFA96_HUMAN", "mass": 34376.0, "length": 309, "protein_name": "Cilia-and flagella-associated protein 96", "gene_name": "CFAP96", "organism": "Human", "refseq_name": "cilia-and flagella-associated protein 96 isoform 1", "refseq_ac": "NP_001107829", "gene_names_uniprotkb": "CFAP96; C4orf47", "gene_names_refseq": "C4orf47; CFAP96", "protein_names_uniprotkb": "Cilia-and flagella-associated protein 96", "protein_names_refseq": "UPF0602 protein C4orf47; cilia-and flagella-associated protein 96 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:441054)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;15809229;25074808;25892735;37097647;39894887", "class_list": "", "function": "C4orf47 Contributes to the Induction of Stem-like Properties in Gallbladder Cancer Under Hypoxia., [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": "Q5BLP7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005881 cytoplasmic microtubule;GO:0097731 9+0 non-motile cilium", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A7E2U8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92560-1", "uniprot_id": "BAP1_HUMAN", "mass": 80362.0, "length": 729, "protein_name": "Ubiquitin carboxyl-terminal hydrolase BAP1", "gene_name": "BAP1", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase BAP1 isoform 1", "refseq_ac": "NP_004647", "gene_names_uniprotkb": "BAP1; KIAA0272; hucep-6", "gene_names_refseq": "BAP1; HUCEP-13; KURIS; TPDS1; UBM2; UCHL2; UVM2; hucep-6", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase BAP1; 3.4.19.12; BRCA1-associated protein 1; Cerebral protein 6", "protein_names_refseq": "BRCA1 associated protein 1; BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase); cerebral protein 6; cerebral protein-13; ubiquitin carboxy-terminal hydrolase L2; ubiquitin carboxyl-terminal hydrolase BAP1 isoform 1", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); malignant mesothelioma (Disease Ontology:DOID:1790); basal cell carcinoma (Disease Ontology:DOID:2513); extrahepatic bile duct adenocarcinoma (Disease Ontology:DOID:3495); intrahepatic cholangiocarcinoma (Disease Ontology:DOID:4928); uveal melanoma (Disease Ontology:DOID:6039); malignant pleural mesothelioma (Disease Ontology:DOID:7474); BAP1-related tumor predisposition syndrome (MONDO:MONDO:0013692); Kury-Isidor syndrome (MONDO:MONDO:0859230)", "pathway": " (hsa:8314); (R-HSA-5689603); (R-HSA-5693565)", "pathway_count": 3, "publication_count": 181, "publication_id_list": "10546591;10550055;10724175;10766245;10802669;10866324;10959836;10973490;11025670;11114888;11237011;11390408;11571274;11573085;11893489;11927591;11934988;12364621;12447390;12485996;12607003;12607005;12697768;12773400;12792649;12800201;12832489;12890688;14560035;15064416;15201865;15279782;15302935;16150728;16377563;16427009;16651405;16906146;17081983;17139257;17525332;17525340;17553757;17848578;18001824;18001825;18006705;18077395;18077418;18220336;18443292;18452278;18497827;18644861;18669648;18757409;19001859;19092802;19117993;19176521;19188440;19203578;19203579;19234442;19261749;19351884;19413330;19651622;19664994;19782031;19815555;20016603;20023648;20068231;20305658;20351172;20436459;20805357;21282113;21293379;21484256;21642991;21874000;21874003;21941004;22234877;22373579;22508508;22589545;22683710;22908299;22980979;23186163;23481700;23684012;24211834;24634419;24667604;24703950;24715725;24748658;25080371;2530630;25451922;25645385;25687217;26081045;26154972;26680512;26768311;26992070;27920218;28514659;28802580;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29632711;29786170;30258054;30315122;30397120;30429286;30484775;30524438;30664650;30833945;31154438;31217245;31844290;31848261;32002398;32157095;32161166;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;34019948;34170818;34171305;34211107;34509645;34932366;35051231;35051358;35318648;35446349;35561310;35580925;35905855;36010968;36180891;36241641;36284347;36991118;37556531;37938771;39042403;39076037;39103260;8944023;9168116;9488723;9528852;9790970", "class_list": "", "function": "BAP1 loss sensitizes RCC cells in vitro to genotoxic stress. Erratum:[Nat Genet. 2012 Sep;44(9):1072] Publication Status: Online-Only, [RefSeq, PubMed]; Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A and HCFC1 (PubMed:12485996, PubMed:18757409, PubMed:20436459, PubMed:25451922, PubMed:35051358). Catalytic component of the polycomb repressive deubiquitinase (PR-DUB) complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-120' (H2AK119ub1) (PubMed:20436459, PubMed:25451922, PubMed:30664650, PubMed:35051358). Does not deubiquitinate monoubiquitinated histone H2B (PubMed:20436459, PubMed:30664650). The PR-DUB complex is an epigenetic regulator of gene expression and acts as a transcriptional coactivator, affecting genes involved in development, cell communication, signaling, cell proliferation and cell viability (PubMed:20805357, PubMed:30664650, PubMed:36180891). Antagonizes PRC1 mediated H2AK119ub1 monoubiquitination (PubMed:30664650). As part of the PR-DUB complex, associates with chromatin enriched in histone marks H3K4me1, H3K4me3, and H3K27Ac, but not in H3K27me3 (PubMed:36180891). Recruited to specific gene-regulatory regions by YY1 (PubMed:20805357). Acts as a regulator of cell growth by mediating deubiquitination of HCFC1 N-terminal and C-terminal chains, with some specificity toward 'Lys-48'-linked polyubiquitin chains compared to 'Lys-63'-linked polyubiquitin chains (PubMed:19188440, PubMed:19815555). Deubiquitination of HCFC1 does not lead to increase stability of HCFC1 (PubMed:19188440, PubMed:19815555). Interferes with the BRCA1 and BARD1 heterodimer activity by inhibiting their ability to mediate ubiquitination and autoubiquitination (PubMed:19117993). It however does not mediate deubiquitination of BRCA1 and BARD1 (PubMed:19117993). Able to mediate autodeubiquitination via intramolecular interactions to counteract monoubiquitination at the nuclear localization signal (NLS), thereby protecting it from cytoplasmic sequestration (PubMed:24703950). Negatively regulates epithelial-mesenchymal transition (EMT) of trophoblast stem cells during placental development by regulating genes involved in epithelial cell integrity, cell adhesion and cytoskeletal organization (PubMed:34170818)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Protein and mRNA Expression in Uveal Melanoma Cell Lines Are Related to GNA and BAP1 Mutation Status., [RefSeq, PubMed]; Studies suggest that BAP1 influences cell proliferation at G1/S by co-regulating transcription from HCF-1/E2F-governed promoters. Review article, [RefSeq, PubMed]; The elusive BAP1 mutation in pediatric melanocytic tumors., [RefSeq, PubMed]; This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]., [RefSeq]; [Clinicopathological features of BAP1 mutated clear cell renal cell carcinoma]., [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": 19, "reported_mutagensis": 33, "reported_glycation": 0, "reported_snv": 90, "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": "A8K993;Q6LEM0;Q7Z5E8", "ec_number_list": "2.4.1.255;2.3.2.27;1.14.99.66;3.4.19.12", "go_molecular_function": "GO:0003682 chromatin binding;GO:0031490 chromatin DNA binding;GO:0008233 peptidase activity;GO:0004843 cysteine-type deubiquitinase activity;GO:0140950 histone H2A deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005694 chromosome", "go_biological_process": "GO:0036211 protein modification process;GO:0030223 neutrophil differentiation;GO:0043249 erythrocyte maturation;GO:0000278 mitotic cell cycle;GO:0001701 in utero embryonic development", "synthesized_glycan_count": 0, "hit_score": 18.4, "record_id": "Q92560-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15182-1", "uniprot_id": "CETN3_HUMAN", "mass": 19550.0, "length": 167, "protein_name": "Centrin-3", "gene_name": "CETN3", "organism": "Human", "refseq_name": "centrin-3 isoform 3", "refseq_ac": "NP_001284697", "gene_names_uniprotkb": "CETN3; CEN3", "gene_names_refseq": "CDC31; CEN3; CETN3", "protein_names_uniprotkb": "Centrin-3", "protein_names_refseq": "CDC31 yeast homolog; EF-hand superfamily member; centrin, EF-hand protein, 3 (CDC31 homolog, yeast); centrin-3 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:1070)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "11237011;14654843;22307388;22424782;23186163;23481700;23591820;24366607;24714562;24715725;25505266;25576301;25645385;25892735;26154972;26337392;26375851;26728094;27846572;27920218;28832583;29242379;29508533;29557506;29786170;30429286;30524438;31154438;31530632;31844290;32157095;32350084;32387766;32502341;32897882;32938616;33141586;33717175;33968037;33981976;34087483;34509645;35051231;35154160;35494241;35580925;36702832;9256449", "class_list": "", "function": "As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Plays a fundamental role in microtubule-organizing center structure and function., [UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene contains four EF-hand calcium binding domains, and is a member of the centrin protein family. Centrins are evolutionarily conserved proteins similar to the CDC31 protein of S. cerevisiae. Yeast CDC31 is located at the centrosome of interphase and mitotic cells, where it plays a fundamental role in centrosome duplication and separation. Multiple forms of the proteins similar to the yeast centrin have been identified in human and other mammalian cells, some of which have been shown to be associated with centrosome fractions. This protein appears to be one of the most abundant centrins associated with centrosome, which suggests a similar function to its yeast counterpart. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 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": 2, "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": "Q53YD2;Q9BS23", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding;GO:0031683 G-protein beta/gamma-subunit complex binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0044615 nuclear pore nuclear basket;GO:0005730 nucleolus;GO:0005813 centrosome;GO:0005815 microtubule organizing center;GO:0005814 centriole", "go_biological_process": "GO:0006406 mRNA export from nucleus;GO:0015031 protein transport;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051301 cell division;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "O15182-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P09326-1", "uniprot_id": "CD48_HUMAN", "mass": 27683.0, "length": 243, "protein_name": "CD48 antigen", "gene_name": "CD48", "organism": "Human", "refseq_name": "CD48 antigen isoform 1 precursor", "refseq_ac": "NP_001769", "gene_names_uniprotkb": "CD48; BCM1; BLAST1", "gene_names_refseq": "BCM1; BLAST1; BLAST; CD48; MEM-102; SLAMF2; hCD48; mCD48", "protein_names_uniprotkb": "CD48 antigen; B-lymphocyte activation marker BLAST-1; BCM1 surface antigen; Leukocyte antigen MEM-102; SLAM family member 2; SLAMF2; Signaling lymphocytic activation molecule 2; TCT.1", "protein_names_refseq": "B-lymphocyte activation marker BLAST-1; BCM1 surface antigen; CD48 antigen (B-cell membrane protein); CD48 antigen isoform 1 precursor; SLAM family member 2; TCT.1; leukocyte antigen MEM-102; signaling lymphocytic activation molecule 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:962); (R-HSA-202733)", "pathway_count": 2, "publication_count": 124, "publication_id_list": "10606205;10764623;11207550;11237011;11256994;11564780;11779189;11812992;12007789;12070135;12208882;12469115;12782713;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;1827826;1847502;19279206;19349973;19494291;1999350;1999351;21193412;21654843;21659548;23945545;24043627;24190977;24764293;2538457;25502872;25505266;26375851;27249817;27452731;28218747;28228285;2828034;28467828;28514659;28832583;28855257;28904123;29242379;29391424;29393594;29437277;29493099;29508533;29557506;29632711;30315122;30410026;30429286;31217245;31844290;32350084;32897882;32983136;33298915;33392160;33633747;33717175;33936100;34433824;34561969;34932366;35154160;35561310;35580925;36134505;36280100;36284347;36520044;36889184;37074911;37279525;40914422;468991;7499850;7509040;7521878;8163559;8166770;8314844;8315383;9041467;9052782;9169774;9242610;9295288;9382878;9418191;9693095;9763524;9841922;9893294", "class_list": "", "function": "Boosting of tau protein aggregation by CD40 and CD48 gene expression in Alzheimer's disease., [RefSeq, PubMed]; CD48 suppresses proliferation and migration as an immune-related prognostic signature in the cervical cancer immune microenvironment., [RefSeq, PubMed]; Elevated levels of sCD48 are inversely correlated with markers of disease activity in bullous pemphigoid., [RefSeq, PubMed]; Glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that interacts via its N-terminal immunoglobulin domain with cell surface receptors including CD244/2B4 or CD2 to regulate immune cell function and activation (PubMed:12007789, PubMed:19494291, PubMed:27249817, PubMed:9841922). Participates in T-cell signaling transduction by associating with CD2 and efficiently bringing the Src family protein kinase LCK and LAT to the TCR/CD3 complex (PubMed:19494291). In turn, promotes LCK phosphorylation and subsequent activation (PubMed:12007789). Induces the phosphorylation of the cytoplasmic immunoreceptortyrosine switch motifs (ITSMs) of CD244 initiating a series of signaling events that leads to the generation of the immunological synapse and the directed release of cytolytic granules containing perforin and granzymes by T-lymphocytes and NK-cells (PubMed:27249817)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Patients with coronavirus disease 2019 characterized by dysregulated levels of membrane and soluble cluster of differentiation 48., [RefSeq, PubMed]; Programmed Cell Death-1 (PD-1) anchoring to the GPI-linked co-receptor CD48 reveals a novel mechanism to modulate PD-1-dependent inhibition of human T cells., [RefSeq, PubMed]; This gene encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 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": 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": 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": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 15, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q5U055;Q8MGR0", "ec_number_list": "", "go_molecular_function": "GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045121 membrane raft;GO:0070062 extracellular exosome;GO:0098552 side of membrane", "go_biological_process": "GO:0006952 defense response;GO:0006955 immune response;GO:0030101 natural killer cell activation;GO:0045321 leukocyte activation", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "P09326-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NZM4-1", "uniprot_id": "BICRA_HUMAN", "mass": 158490.0, "length": 1560, "protein_name": "BRD4-interacting chromatin-remodeling complex-associated protein", "gene_name": "BICRA", "organism": "Human", "refseq_name": "BRD4-interacting chromatin-remodeling complex-associated protein", "refseq_ac": "NP_056526", "gene_names_uniprotkb": "BICRA; GLTSCR1", "gene_names_refseq": "BICRA; CSS12; GLTSCR1; SMARCK1", "protein_names_uniprotkb": "BRD4-interacting chromatin-remodeling complex-associated protein; Glioma tumor suppressor candidate region gene 1 protein", "protein_names_refseq": "BRD4 interacting chromatin remodelling complex associated protein; BRD4-interacting chromatin-remodeling complex-associated protein; glioma tumor suppressor candidate region gene 1 protein", "tax_id": 9606, "disease": "Coffin-Siris syndrome 12 (Disease Ontology:DOID:0112370); Coffin-Siris syndrome (Disease Ontology:DOID:1925)", "pathway": " (hsa:29998); (R-HSA-9933947)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10708517;11237011;15834925;19608861;21555454;22464331;23186163;23481700;24275569;25645385;26365797;26768311;28832583;28904123;29242379;29351928;29374058;29393594;29557506;30779550;31217245;31844290;32157095;32161166;32387766;32502341;32938616;32983136;33091337;33214551;33232675;33298915;33392160;33968037;34019948;35051231;35138101;35218185;35254053;35580925;36010968;36437209;37217939;37541260;38665916;39302247;39531497;40136647;41350704", "class_list": "", "function": "BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms., [RefSeq, PubMed]; Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:29374058). May play a role in BRD4-mediated gene transcription (PubMed:21555454)., [UniProtKB, PubMed, PubMed]; GLTSCR1 coordinates alternative splicing and transcription elongation of ZO1 to regulate colorectal cancer progression., [RefSeq, PubMed]; Identification of a novel BICRA variant leading to the newly described Coffin-Siris syndrome 12., [RefSeq, PubMed]; Polymorphisms in GLTSCR1 are associated with the development of oligodendrogliomas. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 9, "predicted_n_glycosites": 0, "predicted_o_glycosites": 9, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 64, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "A8MW01", "ec_number_list": "", "go_molecular_function": "GO:0140537 transcription regulator activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016514 SWI/SNF complex;GO:0000785 chromatin", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:0006338 chromatin remodeling;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008284 positive regulation of cell population proliferation;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q9NZM4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZ95-1", "uniprot_id": "NSD3_HUMAN", "mass": 161613.0, "length": 1437, "protein_name": "Histone-lysine N-methyltransferase NSD3", "gene_name": "NSD3", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase NSD3 isoform short", "refseq_ac": "NP_060248", "gene_names_uniprotkb": "NSD3; DC28; WHSC1L1", "gene_names_refseq": "KMT3F; KMT3G; NSD3; WHISTLE; WHSC1L1; pp14328", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase NSD3; 2.1.1.370; 2.1.1.371; Nuclear SET domain-containing protein 3; Protein whistle; WHSC1-like 1 isoform 9 with methyltransferase activity to lysine; WHSC1-like protein 1; Wolf-Hirschhorn syndrome candidate 1-like protein 1", "protein_names_refseq": "Wolf-Hirschhorn syndrome candidate 1-like 1; histone-lysine N-methyltransferase NSD3 isoform short; histone-lysine N-methyltransferase NSD3; nuclear SET domain-containing protein 3; protein whistle", "tax_id": 9606, "disease": "Sotos syndrome 1 (Disease Ontology:DOID:0112103); syndrome (Disease Ontology:DOID:225); myeloid leukemia (Disease Ontology:DOID:8692)", "pathway": " (hsa:54904); (R-HSA-3214841)", "pathway_count": 2, "publication_count": 109, "publication_id_list": "10.1101/2023.09.13.557529;10949293;11237011;11374904;11549311;11959841;11986249;12123582;12130538;12453418;12540855;12670868;14536086;14690610;14992727;15145825;15235609;15964846;15983384;16118227;16199523;16292313;16519522;16682010;16805913;17021013;17500065;17544230;17707229;18172012;18452278;19413330;19608861;19808676;21131967;21196496;21406692;21555454;21779408;21832073;22099308;22939622;23186163;23481700;24714562;25218447;25576301;25645385;25755297;25772364;25892735;26375851;26728094;26992070;27600516;27846572;28228285;28832583;28855257;28904123;29176719;29242379;29393594;29493099;29508533;29557506;29567837;29632711;29769354;29786170;30315122;30379171;30429286;30524438;30779550;30833945;31154438;31530632;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592170;33592498;33691108;33912179;33968037;33981976;34083510;34171305;34271259;34509645;34615858;34932366;35051231;35532818;35580925;36010968;36241641;36284347;39119928", "class_list": "", "function": "Elevated expression of nuclear receptor-binding SET domain 3 promotes pancreatic cancer cell growth. Publication Status: Online-Only, [RefSeq, PubMed]; Histone and DNA binding ability studies of the NSD subfamily of PWWP domains., [RefSeq, PubMed]; Histone methyltransferase. Preferentially dimethylates 'Lys-4' and 'Lys-27' of histone H3 forming H3K4me2 and H3K27me2. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation, while 'Lys-27' is a mark for transcriptional repression., [UniProtKB, PubMed]; Histones Methyltransferase NSD3 Inhibits Lung Adenocarcinoma Glycolysis Through Interacting with PPP1CB to Decrease STAT3 Signaling Pathway., [RefSeq, PubMed]; Targeting H3K36 methyltransferases NSDs: a promising strategy for tumor targeted therapy. Publication Status: Online-Only, [RefSeq, PubMed]; The role of NSD1, NSD2, and NSD3 histone methyltransferases in solid tumors. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 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": 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": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 53, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B7ZL11;D3DSX1;Q1RMD3;Q3B796;Q6ZSA5;Q9BYU8;Q9BYU9;Q9H2M8;Q9H9W9;Q9NXA6", "ec_number_list": "2.1.1.364;2.1.1.357;2.1.1.-;2.1.1.85;2.1.1.370;2.1.1.371;2.1.1.354", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046975 histone H3K36 methyltransferase activity;GO:0140537 transcription regulator activator activity;GO:0140938 histone H3 methyltransferase activity;GO:0140951 histone H3K27 trimethyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "Q9BZ95-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T4I8-1", "uniprot_id": "CF052_HUMAN", "mass": 17383.0, "length": 152, "protein_name": "Putative uncharacterized protein C6orf52", "gene_name": "C6orf52", "organism": "Human", "refseq_name": "putative uncharacterized protein C6orf52 isoform 1", "refseq_ac": "NP_001138492", "gene_names_uniprotkb": "C6orf52", "gene_names_refseq": "C6orf52", "protein_names_uniprotkb": "Putative uncharacterized protein C6orf52", "protein_names_refseq": "putative uncharacterized protein C6orf52 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:347744)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;33392160", "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": "Q5T4I7;Q96AS6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q5T4I8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96CJ1-1", "uniprot_id": "EAF2_HUMAN", "mass": 28792.0, "length": 260, "protein_name": "ELL-associated factor 2", "gene_name": "EAF2", "organism": "Human", "refseq_name": "ELL-associated factor 2 isoform 2", "refseq_ac": "NP_001306970", "gene_names_uniprotkb": "EAF2; BM-040; TRAITS", "gene_names_refseq": "BM040; EAF2; TRAITS; U19", "protein_names_uniprotkb": "ELL-associated factor 2; Testosterone-regulated apoptosis inducer and tumor suppressor protein", "protein_names_refseq": "ELL-associated factor 2 isoform 2; testosterone-regulated apoptosis inducer and tumor suppressor protein", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:55840); (R-HSA-112382); (R-HSA-674695); (R-HSA-75955)", "pathway_count": 4, "publication_count": 57, "publication_id_list": "10199401;11237011;11313498;11313499;11859374;11884399;12446457;12676794;12907652;15489290;16006523;16114057;17234882;18669648;1939271;19690332;19952111;20159561;22195968;23186163;23481700;2449431;24714562;26375851;26659056;26992070;28832583;28834231;29242379;29508533;29557506;29632046;29632711;31530632;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32897882;32983136;33182068;33392160;33691108;34852843;35561310;35580925;37426316;39894887;7660122;7660129;7660130;8370526;9450929;9489704", "class_list": "", "function": "Acts as a transcriptional transactivator of TCEA1 elongation activity (By similarity). Acts as a transcriptional transactivator of ELL and ELL2 elongation activities. Potent inducer of apoptosis in prostatic and non-prostatic cell lines. Inhibits prostate tumor growth in vivo., [UniProtKB, PubMed, PubMed, PubMed]; CircEAF2 counteracts Epstein-Barr virus-positive diffuse large B-cell lymphoma progression via miR-BART19-3p/APC/beta-catenin axis. Erratum:[Mol Cancer. 2026 Feb 20;25(1):40. doi: 10.1186/s12943-026-02592-y. PMID: 41721413] Publication Status: Online-Only, [RefSeq, PubMed]; ELL may be an important factor required for U19/Eaf2 function because U19/Eaf2 nuclear localization and transactivation activity are essential for its function as a transcription factor., [RefSeq, PubMed]; ELL-associated factors 1 and 2 are positive regulators of RNA polymerase II elongation factor ELL., [RefSeq, PubMed]; Mechanism of ELL-associated factor 2 and vasohibin 1 regulating invasion, migration, and angiogenesis in colorectal cancer., [RefSeq, PubMed]; Systematic expression analysis of EAF family reveals the importance of EAF2 in melanoma., [RefSeq, PubMed]; U19 is growth inhibitory and tumor suppressive and that the disruption of androgen-dependent growth inhibition via U19 down-regulation is commonly associated with prostate 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": 3, "reported_mutagensis": 0, "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": "Q9NZ82", "ec_number_list": "", "go_molecular_function": "GO:0003711 transcription elongation factor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0008023 transcription elongation factor complex;GO:0016607 nuclear speck;GO:0032783 super elongation complex", "go_biological_process": "GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006915 apoptotic process;GO:0006368 transcription elongation by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q96CJ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P34810-1", "uniprot_id": "CD68_HUMAN", "mass": 37408.0, "length": 354, "protein_name": "Macrosialin", "gene_name": "CD68", "organism": "Human", "refseq_name": "macrosialin isoform B precursor", "refseq_ac": "NP_001035148", "gene_names_uniprotkb": "CD68", "gene_names_refseq": "CD68; GP110; LAMP4; SCARD1", "protein_names_uniprotkb": "Macrosialin; Gp110", "protein_names_refseq": "CD68 antigen; macrophage antigen CD68; macrosialin isoform B precursor; macrosialin; scavenger receptor class D, member 1", "tax_id": 9606, "disease": "adult T-cell leukemia/lymphoma (Disease Ontology:DOID:0050523); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); endometriosis of pelvic peritoneum (Disease Ontology:DOID:11429); primary biliary cholangitis (Disease Ontology:DOID:12236); diverticulitis of colon (Disease Ontology:DOID:13254); hepatitis B (Disease Ontology:DOID:2043); Epstein-Barr virus infectious disease (Disease Ontology:DOID:2938); severe acute respiratory syndrome (Disease Ontology:DOID:2945); Merkel cell carcinoma (Disease Ontology:DOID:3965); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); acquired immunodeficiency syndrome (Disease Ontology:DOID:635); hepatocellular carcinoma (Disease Ontology:DOID:684); Hodgkin's lymphoma (Disease Ontology:DOID:8567)", "pathway": " (hsa:968); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12397372;15194571;15647451;16263699;18405323;18991276;19159218;21081667;23650620;24190977;27452731;29485866;29557506;29741879;29786170;30429286;30459171;31154438;31611695;31844290;32157095;32350084;32387766;32488085;32938616;32983136;33043033;33123756;33592498;33912179;33968037;34357683;35051231;35289036;35580925;36240223;37074911;37118836;37198277;37340703;38084523;38087440;38357542;38665916;7680921;8692836;9790779", "class_list": "", "function": "CD68 expression in the placenta of gestational diabetic mothers: A case-control study., [RefSeq, PubMed]; CD68 was expressed in beta-cells of NOD mice by 14-17 weeks of age, when a large proportion of these cells were infiltrated with lymphocytes and monocytes., [RefSeq, PubMed]; Could play a role in phagocytic activities of tissue macrophages, both in intracellular lysosomal metabolism and extracellular cell-cell and cell-pathogen interactions. Binds to tissue- and organ-specific lectins or selectins, allowing homing of macrophage subsets to particular sites. Rapid recirculation of CD68 from endosomes and lysosomes to the plasma membrane may allow macrophages to crawl over selectin-bearing substrates or other cells., [UniProtKB, UniProtKB, UniProtKB]; Impact of vitamin D in children with chronic tonsillitis (immunohistochemical study of CD68 polarisation and proinflammatory cytokines estimation). Publication Status: Online-Only, [RefSeq, PubMed]; Microglial CD68 and L-ferritin upregulation in response to phosphorylated-TDP-43 pathology in the amyotrophic lateral sclerosis brain. Publication Status: Online-Only, [RefSeq, PubMed]; Role of CD68 in the tumor immune microenvironment in Hodgkin's lymphoma. Review article, [RefSeq, PubMed]; This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; Unraveling the potential of CD8, CD68, and VISTA as diagnostic and prognostic markers in patients with pancreatic ductal adenocarcinoma. Publication Status: Online-Only, [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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "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": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 63, "disease_count": 14, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "B4DVT4;Q53HR6;Q53XI3;Q96BI7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane", "go_biological_process": "GO:0072594 establishment of protein localization to organelle;GO:0002437 inflammatory response to antigenic stimulus;GO:0071222 cellular response to lipopolysaccharide;GO:0031669 cellular response to nutrient levels;GO:0140052 cellular response to oxidised low-density lipoprotein particle stimulus", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "P34810-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y4R8-1", "uniprot_id": "TELO2_HUMAN", "mass": 91747.0, "length": 837, "protein_name": "Telomere length regulation protein TEL2 homolog", "gene_name": "TELO2", "organism": "Human", "refseq_name": "telomere length regulation protein TEL2 homolog", "refseq_ac": "NP_057195", "gene_names_uniprotkb": "TELO2; KIAA0683", "gene_names_refseq": "CLK2; TEL2; TELO2; YHFS", "protein_names_uniprotkb": "Telomere length regulation protein TEL2 homolog; Protein clk-2 homolog; hCLK2", "protein_names_refseq": "TEL2, telomere maintenance 2, homolog; protein clk-2 homolog; telomere length regulation protein TEL2 homolog", "tax_id": 9606, "disease": "TELO2-related intellectual disability-neurodevelopmental disorder (MONDO:MONDO:0014848)", "pathway": " (hsa:9894)", "pathway_count": 1, "publication_count": 94, "publication_id_list": "11230166;11237011;12670948;15345747;18669648;18691976;19413330;19651622;20068231;20427287;20801936;20810650;20864032;21406692;22424782;22797300;23186163;23263282;23481700;24656813;24715725;25418920;25505266;25645385;26154972;26375851;26758079;26768311;26992070;27132593;27600516;27846572;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30524438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33307281;33416177;33537174;33592498;33691108;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34561969;34838521;35051231;35154160;35580925;36010968;36215666;36241641;36797513;40914422", "class_list": "", "function": "Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant., [RefSeq, PubMed]; Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes, which regulate cell growth and survival in response to nutrient and hormonal signals. May be involved in telomere length regulation., [UniProtKB, PubMed, PubMed]; Structure of the Human TELO2-TTI1-TTI2 Complex., [RefSeq, PubMed]; TELO2 induced progression of colorectal cancer by binding with RICTOR through mTORC2., [RefSeq, PubMed]; TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature. Review article, [RefSeq, PubMed]; This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[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": 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": 1, "reported_glycation": 0, "reported_snv": 8, "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": "D3DU73;O75168;Q7LDV4;Q9BR21", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0019901 protein kinase binding;GO:0019900 kinase binding;GO:0042162 telomeric DNA binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0016604 nuclear body", "go_biological_process": "GO:0051083 'de novo' cotranslational protein folding;GO:0050821 protein stabilization;GO:2000003 positive regulation of DNA damage checkpoint", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q9Y4R8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WWH4-1", "uniprot_id": "ASZ1_HUMAN", "mass": 53458.0, "length": 475, "protein_name": "Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1", "gene_name": "ASZ1", "organism": "Human", "refseq_name": "ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 isoform 2", "refseq_ac": "NP_001288750", "gene_names_uniprotkb": "ASZ1; ALP1; ANKL1; C7orf7; GASZ", "gene_names_refseq": "ALP1; ANKL1; ASZ1; C7orf7; CT1.19; GASZ; Orf3", "protein_names_uniprotkb": "Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1; Ankyrin-like protein 1; Germ cell-specific ankyrin, SAM and basic leucine zipper domain-containing protein", "protein_names_refseq": "ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 isoform 2; ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1; ankyrin-like 1; ankyrin-like protein 1; germ cell-specific ankyrin, SAM and basic leucine zipper domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:136991); (R-HSA-5601884)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "11237011;12040005;18922463;21465557;22233380;23056369;23816659;23826142;23980886;24656595;29557506;31530632;32488085;32938616;33592498;35051231", "class_list": "", "function": "Data reveal a potential role of GASZ during embryonic germ cell development and provide a powerful in vitro system for dissecting the molecular pathways in early germ cell formation during embryogenesis., [RefSeq, PubMed]; Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the 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. Its association with pi-bodies suggests a participation in the primary piRNAs metabolic process. Required prior to the pachytene stage to facilitate the production of multiple types of piRNAs, including those associated with repeats involved in the regulation of retrotransposons. May act by mediating protein-protein interactions during germ cell maturation (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": 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": "A0AV27;A4D0V0;B7ZM20", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0071546 pi-body", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0007140 male meiotic nuclear division;GO:0031047 regulatory ncRNA-mediated gene silencing;GO:0010526 transposable element silencing", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q8WWH4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95613-1", "uniprot_id": "PCNT_HUMAN", "mass": 378037.0, "length": 3336, "protein_name": "Pericentrin", "gene_name": "PCNT", "organism": "Human", "refseq_name": "pericentrin isoform 2", "refseq_ac": "NP_001302458", "gene_names_uniprotkb": "PCNT; KIAA0402; PCNT2", "gene_names_refseq": "KEN; MOPD2; PCNT2; PCNTB; PCNT; PCN; PCTN2; SCKL4", "protein_names_uniprotkb": "Pericentrin; Kendrin; Pericentrin-B", "protein_names_refseq": "kendrin; pericentrin isoform 2; pericentrin-2; pericentrin-380; pericentrin-B", "tax_id": 9606, "disease": "microcephalic osteodysplastic primordial dwarfism type II (Disease Ontology:DOID:0060609); Down syndrome (Disease Ontology:DOID:14250)", "pathway": " (hsa:5116); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518); (R-HSA-9613829); (R-HSA-9615710); (R-HSA-9646399)", "pathway_count": 11, "publication_count": 196, "publication_id_list": "10089880;10491388;10823944;11076968;11082038;11171385;11237011;11956313;12024216;12207013;12221128;12364337;12852856;13678582;14580337;14654843;14675537;15498487;15705883;16357211;16462731;16565220;16890155;17574030;17646400;17719545;17785525;17846173;18037885;18157127;18174396;18378770;18452278;18477460;18521620;18566290;18615013;18644871;18694559;18801063;18955030;19004860;19007248;19081074;19690332;19691289;19940019;20058876;20068231;20112406;20230748;20308558;20399632;20466722;20558667;20599736;20797626;21238931;21273506;21282471;21347367;21422230;21548880;21565611;21620453;21725307;21792235;2204156;22094468;22179047;22184200;22365832;22424782;22433857;22544926;22641346;22653444;22722493;22797915;23033978;23141531;23141541;23186163;23253480;23301498;23348840;23400999;23481700;23515720;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24200693;24231678;24275569;24469809;24816561;24982133;25047611;25313408;25418920;25469497;25503564;25532896;25576301;25645385;25961502;26118642;26154972;26213385;26375851;26647647;26811146;26929215;26992070;27137183;27846572;27862975;27920218;2799391;28063628;28228285;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29351928;29393594;29493099;29508533;29557506;29605689;29626215;29632046;29632711;29786170;30315122;30379171;30420784;30429286;30524438;31217245;31492838;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33402344;33460028;33537174;33592498;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34233584;34357683;34405274;34418690;34509645;34561969;34932366;35051231;35580925;36010968;36215666;36241641;37211383;37340703;37937642;7769006;7790358;8662539;8838651;9038169;9151685;9864362", "class_list": "", "function": "Coding variants in the PCNT and CEP295 genes contribute to breast cancer risk in Chinese women., [RefSeq, PubMed]; Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II., [RefSeq, PubMed]; Integral component of the filamentous matrix of the centrosome involved in the initial establishment of organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule network formation. Is an integral component of the pericentriolar material (PCM). May play an important role in preventing premature centrosome splitting during interphase by inhibiting NEK2 kinase activity at the centrosome., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; PCNT is a prognostic biomarker correlated with tumor immune microenvironment in hepatocellular carcinoma and promotes tumor progression by inhibiting cell cycle arrest., [RefSeq, PubMed]; Pericentrin deficiency in smooth muscle cells augments atherosclerosis through HSF1-driven cholesterol biosynthesis and PERK activation. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]., [RefSeq]; Triple deletion of TP53, PCNT, and CEP215 promotes centriole amplification in the M phase., [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": 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": 38, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 91, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "O43152;Q7Z7C9", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0005516 calmodulin binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule;GO:0016020 membrane;GO:0005814 centriole", "go_biological_process": "GO:0007165 signal transduction;GO:0090316 positive regulation of intracellular protein transport;GO:0060271 cilium assembly;GO:0007020 microtubule nucleation;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 20.6, "record_id": "O95613-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BSM1-1", "uniprot_id": "PCGF1_HUMAN", "mass": 30346.0, "length": 259, "protein_name": "Polycomb group RING finger protein 1", "gene_name": "PCGF1", "organism": "Human", "refseq_name": "polycomb group RING finger protein 1", "refseq_ac": "NP_116062", "gene_names_uniprotkb": "PCGF1; NSPC1; RNF68", "gene_names_refseq": "2010002K04Rik; NSPC1; PCGF1; RNF3A-2; RNF68", "protein_names_uniprotkb": "Polycomb group RING finger protein 1; NSPc1; Nervous system Polycomb-1; RING finger protein 68", "protein_names_refseq": "RING finger protein 68; nervous system Polycomb-1; polycomb group RING finger protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84759)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "11287196;15315754;15620699;16943429;17088287;20068231;23523425;25418920;25645385;26151332;26375851;26687479;26992070;27568929;27600516;27846572;27920218;28228285;28832583;28834231;29242379;29393594;29557506;30315122;30429286;30484775;30779550;31844290;31848261;32157095;32387766;32488085;32897882;32983136;33141586;33298915;33592498;33717175;33968037;34148069;34509645;35051231;35580925;36010968;36241641;36815373;36932196;38088808", "class_list": "", "function": "Balanced Epigenetic Regulation of MHC Class I Expression in Tumor Cells by the Histone Ubiquitin Modifiers BAP1 and PCGF1., [RefSeq, PubMed]; Component of the Polycomb group (PcG) multiprotein BCOR complex, a complex required to maintain the transcriptionally repressive state of some genes, such as BCL6 and the cyclin-dependent kinase inhibitor, CDKN1A. Transcriptional repressor that may be targeted to the DNA by BCL6; this transcription repressor activity may be related to PKC signaling pathway. Represses CDKN1A expression by binding to its promoter, and this repression is dependent on the retinoic acid response element (RARE element). Promotes cell cycle progression and enhances cell proliferation as well. May have a positive role in tumor cell growth by down-regulating CDKN1A. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:26151332). Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332). Regulates the expression of DPPA4 and NANOG in the NT2 embryonic carcinoma cells (PubMed:26687479)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Cooperation between NSPc1 and DNA methylation represses HOXA11 expression and promotes apoptosis of trophoblast cells during preeclampsia., [RefSeq, PubMed]; MORC4 plays a tumor-promoting role in colorectal cancer via regulating PCGF1/CDKN1A axis in vitro and in vivo., [RefSeq, PubMed]; PCGF1 is a mammalian homolog of the Drosophila polycomb group genes, which act as transcriptional repressors to regulate anterior-posterior patterning in early embryonic development (Nunes et al., 2001 [PubMed 11287196]). See also PCGF2 (MIM 600346).[supplied by OMIM, Aug 2008]., [RefSeq]; PCGF1 promotes epigenetic activation of stemness markers and colorectal cancer stem cell enrichment. Publication Status: Online-Only, [RefSeq, PubMed]; Polycomb has a role in stem cell fate and development of cancer (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": 1, "reported_mutagensis": 5, "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": "Q7Z506", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:1990841 promoter-specific chromatin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0031519 PcG protein complex;GO:0035102 PRC1 complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9BSM1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15735-1", "uniprot_id": "PI5PA_HUMAN", "mass": 107197.0, "length": 1006, "protein_name": "Phosphatidylinositol 4,5-bisphosphate 5-phosphatase A", "gene_name": "INPP5J", "organism": "Human", "refseq_name": "phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform c", "refseq_ac": "NP_001002837", "gene_names_uniprotkb": "INPP5J; PIB5PA; PIPP", "gene_names_refseq": "INPP5J; INPP5; PIB5PA; PIPP", "protein_names_uniprotkb": "Phosphatidylinositol 4,5-bisphosphate 5-phosphatase A; 3.1.3.36; 3.1.3.56; Inositol polyphosphate 5-phosphatase J; Phosphatidylinositol 1,3,4,5-tetrakisphosphate 5-phosphatase; Phosphatidylinositol 1,4,5-trisphosphate 5-phosphatase", "protein_names_refseq": "phosphatidylinositol 1,3,4,5-tetrakisphosphate 5-phosphatase; phosphatidylinositol 1,4,5-trisphosphate 5-phosphatase; phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform c; phosphatidylinositol 4,5-bisphosphate 5-phosphatase A", "tax_id": 9606, "disease": "", "pathway": " (hsa:27124); (R-HSA-1660499); (R-HSA-1855183); (R-HSA-1855204)", "pathway_count": 4, "publication_count": 134, "publication_id_list": "10.1101/2023.09.13.557529;10194451;10224048;10555148;10559940;10593988;10753883;10805725;10822173;10866302;11001876;11022047;11022048;11042108;11084340;11118617;11237011;11279162;11302699;11349134;11604140;11676921;11733541;11877430;11909533;11923287;12101241;12118066;12223481;12324459;12422219;12536145;12646134;12747803;12808147;12847086;12890864;1333955;1377913;14516276;14617813;14660569;15024000;15037625;15080793;15107860;15135396;15140260;15316017;15464023;15474001;15504367;15579586;15702972;15716355;15790568;15797027;15840652;16107206;16154996;16399794;1644792;16476736;16522682;16914545;16979564;17008356;17068342;1718960;17245604;17651088;18093523;18364358;18477386;18753295;19038970;19179337;19896968;20534812;21204784;22037487;22647598;23186163;23443536;23519112;23758345;25099196;25495341;2550068;26267533;26282217;28228285;2841328;28657654;31844290;32157095;32502341;32938616;32983136;34171305;35051231;35561310;37217939;7608176;7624799;7721860;7761412;7890667;8006039;8390685;8407970;8454637;8530101;8662638;8681945;8723348;8769125;9094719;9113989;9211928;9286278;9295334;9360711;9367159;9428629;9430698;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063", "class_list": "", "function": "Findings indicate inositol polyphosphate 5-phosphatase PIPP (INPP5J) as a suppressor of oncogenic phosphoinositide 3-kinase (PI3K)/AKT signaling in breast cancer., [RefSeq, PubMed]; Inositol 5-phosphatase, which converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate. Also converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate in vitro. May be involved in modulation of the function of inositol and phosphatidylinositol polyphosphate-binding proteins that are present at membranes ruffles., [UniProtKB, UniProtKB]; MiR-508 has a role in sustaining phosphoinositide signalling and promotes aggressive phenotype of oesophageal squamous cell carcinoma by suppressing INPP5J Publication Status: Online-Only, [RefSeq, PubMed]; Suggest miR-661 functions as a tumor promoter by targeting the INPP5J gene, and then promoting cell proliferation of ovarian cancer cells., [RefSeq, PubMed]; These results establish the tumour suppressive role of phosphatidylinositol 4,5-bisphosphate 5-phosphatase and reveal mechanisms involved in its downregulation in melanoma., [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": 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": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B3KS54;Q32M61;Q6ZTH6;Q8N902;Q9UDT9", "ec_number_list": "3.1.3.-;3.1.3.95;3.1.3.36;3.1.3.64;3.1.3.86;3.1.3.56;2.7.1.134;2.7.1.159;3.1.3.16", "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity;GO:0052658 inositol-1,4,5-trisphosphate 5-phosphatase activity;GO:0052659 inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity;GO:0034485 phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030426 growth cone;GO:0043198 dendritic shaft", "go_biological_process": "GO:0006661 phosphatidylinositol biosynthetic process;GO:0046856 phosphatidylinositol dephosphorylation;GO:0031115 negative regulation of microtubule polymerization;GO:0043647 inositol phosphate metabolic process", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "Q15735-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBP0-1", "uniprot_id": "SPAST_HUMAN", "mass": 67197.0, "length": 616, "protein_name": "Spastin", "gene_name": "SPAST", "organism": "Human", "refseq_name": "spastin isoform 1", "refseq_ac": "NP_055761", "gene_names_uniprotkb": "SPAST; ADPSP; FSP2; KIAA1083; SPG4", "gene_names_refseq": "ADPSP; FSP2; SPAST; SPG4", "protein_names_uniprotkb": "Spastin; 5.6.1.1; Spastic paraplegia 4 protein", "protein_names_refseq": "spastic paraplegia 4 (autosomal dominant; spastic paraplegia 4 protein; spastin isoform 1; spastin)", "tax_id": 9606, "disease": "hereditary spastic paraplegia 4 (Disease Ontology:DOID:0110792); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:6683); (R-HSA-9668328)", "pathway_count": 2, "publication_count": 138, "publication_id_list": "10.1101/2023.09.13.557529;10610178;10699187;11015453;11039577;11087788;11237011;11309678;11809724;11843700;11985387;12124993;12161613;12163196;12202986;12460147;12552568;12676568;12939659;14732620;15147984;15159500;15210521;15248095;15269182;15326248;15345747;15482961;15537668;15667412;15716377;15891913;16026783;16219033;16339213;16602018;16682546;16684598;16815977;16826525;16959974;17389232;17594340;18410514;18613979;18669648;18997780;19000169;19690332;20068231;20200447;20214791;20530212;20550563;20562464;20718791;20932283;21310966;21406692;21546041;22232211;22446388;22637577;22960362;23186163;23272056;23279441;23481700;23745751;23897888;23969831;24366607;24715725;24824479;25045380;25390646;25418920;25421405;25502872;25875445;26040712;26040713;26154972;26875866;26992070;27846572;27862975;27920218;28242692;28572275;28649982;28832583;28904123;29242379;29393594;29493099;29557506;29632711;29769354;29789417;30315122;30410026;30484775;30513301;31154438;31217245;31284535;31530632;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33106322;33141586;33592498;33912179;33936100;33968037;34087483;34171305;34185709;34357683;34509645;35051231;35580925;36010968;37217939;37473796;37938771;38066582;38554708;38732227", "class_list": "", "function": "A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics. Publication Status: Online-Only, [RefSeq, PubMed]; ATP-dependent microtubule severing protein that specifically recognizes and cuts microtubules that are polyglutamylated. Preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold. Severing activity is not dependent on tubulin acetylation or detyrosination. Microtubule severing promotes reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. It is critical for the biogenesis and maintenance of complex microtubule arrays in axons, spindles and cilia. SPAST is involved in abscission step of cytokinesis and nuclear envelope reassembly during anaphase in cooperation with the ESCRT-III complex. Recruited at the midbody, probably by IST1, and participates in membrane fission during abscission together with the ESCRT-III complex. Recruited to the nuclear membrane by IST1 and mediates microtubule severing, promoting nuclear envelope sealing and mitotic spindle disassembly during late anaphase. Required for membrane traffic from the endoplasmic reticulum (ER) to the Golgi and endosome recycling. Recruited by IST1 to endosomes and regulates early endosomal tubulation and recycling by mediating microtubule severing. Probably plays a role in axon growth and the formation of axonal branches., [UniProtKB, HAMAP, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Identification of c.1495C > T mutation in SPAST gene in a family of Han Chinese with hereditary spastic paraplegia., [RefSeq, PubMed]; Involved in lipid metabolism by regulating the size and distribution of lipid droplets., [UniProtKB, PubMed]; SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism. Publication Status: Online-Only, [RefSeq, PubMed]; Spastin locally amplifies microtubule dynamics to pattern the axon for presynaptic cargo delivery., [RefSeq, PubMed]; This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The use of alternative translational initiation sites in this gene results in a single transcript variant that can produce isoforms that differ in the length of their N-terminus and which thereby differ in the efficiency of their export from the nucleus to the cytoplasm. In addition, alternative splicing results in multiple transcript variants that encode isoforms that differ in other protein regions as well. One isoform of this gene has been shown to be a microtubule-severing enzyme that regulates microtubule abundance, mobility, and plus-end distribution. Mutations in this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [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": 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": 13, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 23, "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": "A7E2A7;Q9UPR9", "ec_number_list": "3.6.5.-;5.6.1.1;3.6.4.6", "go_molecular_function": "GO:0008568 microtubule severing ATPase activity;GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005768 endosome", "go_biological_process": "GO:0031468 nuclear membrane reassembly;GO:0051013 microtubule severing;GO:0031117 positive regulation of microtubule depolymerization;GO:0051260 protein homooligomerization;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q9UBP0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5BJF2-1", "uniprot_id": "SGMR2_HUMAN", "mass": 20848.0, "length": 176, "protein_name": "Sigma intracellular receptor 2", "gene_name": "TMEM97", "organism": "Human", "refseq_name": "sigma intracellular receptor 2", "refseq_ac": "NP_055388", "gene_names_uniprotkb": "TMEM97; MAC30; S2R", "gene_names_refseq": "MAC30; S2R; TMEM97; sigma2R", "protein_names_uniprotkb": "Sigma intracellular receptor 2; MAC30; Meningioma-associated protein 30; S2R; Sigma-2 receptor; Sigma2 receptor; Transmembrane protein 97", "protein_names_refseq": "meningioma-associated protein 30; sigma intracellular receptor 2; sigma-2 receptor; sigma2 receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:27346)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;15375745;17143516;18070364;19583955;22292588;22424782;23481700;23922215;24715725;25566323;25576301;25620095;25645385;27378690;28007569;28228285;28514659;28559337;29242379;30315122;30443021;31844290;32161166;32350084;32357974;32387766;32897882;32938616;33141586;33298915;33392160;33537174;33691108;33912179;33936100;33968037;34087483;34171305;34233061;34357683;34405274;34509645;34799735;34880501;35251023;35907137;35970844;36215666;36241641;36284347;37047353;38319380;38388887;7694637", "class_list": "", "function": "GPCR/endocytosis/ERK signaling/S2R is involved in the regulation of the internalization, mitochondria-targeting and -activating properties of human salivary histatin 1. Publication Status: Online-Only, [RefSeq, PubMed]; MAC30 mRNA and protein expression in normal and cancerous tissue samples of the esophagus, stomach, colon and pancreas, [RefSeq, PubMed]; MAC30 protein may play a role in development of colorectal cancer, and can be considered as a prognostic factor., [RefSeq, PubMed]; Sigma-2 Receptor Ligand Binding Modulates Association between TSPO and TMEM97. Publication Status: Online-Only, [RefSeq, PubMed]; Sigma-2 receptor implicated in the regulation of multiple cellular processes, including cholesterol biosynthesis and trafficking, membrane trafficking, autophagy, lipid membrane-associated protein trafficking, and stabilization of receptors at the cell surface, thereby contributing to the maintenance of cellular homeostasis(PubMed:19583955, PubMed:23922215, PubMed:25620095, PubMed:27378690, PubMed:28559337, PubMed:30443021, PubMed:34233061, PubMed:34799735, PubMed:35970844, PubMed:25566323). Forms a ternary complex with PGRMC1 and LDLR at the plasma membrane, promoting LDLR-mediated internalization of LDL cholesterol (PubMed:30443021). Reduces the availability of the lysosomal sterol transporter NPC1, likely through direct interaction, thereby regulating lipid transport, including cholesterol and LBPA, outside of late endosome/lysosome (PubMed:19583955, PubMed:27378690). Binds the regio- and stereoselective oxysterol 20(S)-hydroxycholesterol (20(S)-OHC). Ligand binding enhances association with NPC1 and modulates TMEM97-containing protein complexes involving PGRMC1 and TSPO, consistent with a role in cholesterol homeostasis (PubMed:34799735, PubMed:37047353). Also able to bind cholesterol (By similarity). Interacts with the salivary peptide histatin 1 (Hst 1/HTN1) at the ER membrane, which is critical for increasing mitochondria-ER contacts and stimulating Hst 1 wound healing properties (PubMed:34233061, PubMed:35970844). May alter the activity of some cytochrome P450 proteins (PubMed:22292588). Although sharing homology with sterol isomerases through the EXPERA domain, lacks sterol isomerase activity; instead, may function as a sterol or oxysterol sensor (PubMed:34880501, PubMed:25566323). Acts as an ER quality control factor by promoting proteolytic degradation of nonproductive and extramitochondrial precursor proteins in the ER membrane, thereby removing them from the ER surface (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TMEM97 is a conserved integral membrane protein that plays a role in controlling cellular cholesterol levels (Bartz et al., 2009 [PubMed 19583955]).[supplied by OMIM, Aug 2009]., [RefSeq]; TMEM97 is transcriptionally activated by YY1 and promotes colorectal cancer progression via the GSK-3beta/beta-catenin signaling pathway., [RefSeq, PubMed]; TMEM97 knockdown inhibits 5-fluorouracil resistance by regulating epithelial-mesenchymal transition and ABC transporter expression via inactivating the Akt/mTOR pathway in 5-fluorouracil-resistant colorectal cancer cells., [RefSeq, PubMed]; The most up-regulated gene was TMEM97 which encodes a transmembrane protein of unknown function (MAC30). Publication Status: Online-Only, [RefSeq, PubMed]; Transmembrane protein 97 is a potential synaptic amyloid beta receptor in human Alzheimer's disease. 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": 15, "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": "B4DS02;Q07823", "ec_number_list": "", "go_molecular_function": "GO:0008142 oxysterol binding;GO:0015485 cholesterol binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005791 rough endoplasmic reticulum;GO:0005886 plasma membrane;GO:0031965 nuclear membrane;GO:0005764 lysosome", "go_biological_process": "GO:0032383 regulation of intracellular cholesterol transport;GO:0042632 cholesterol homeostasis;GO:0090303 positive regulation of wound healing;GO:0001558 regulation of cell growth;GO:0140077 positive regulation of lipoprotein transport", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q5BJF2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6DD88-1", "uniprot_id": "ATLA3_HUMAN", "mass": 60542.0, "length": 541, "protein_name": "Atlastin-3", "gene_name": "ATL3", "organism": "Human", "refseq_name": "atlastin-3 isoform 2", "refseq_ac": "NP_001276977", "gene_names_uniprotkb": "ATL3", "gene_names_refseq": "AT3; ATL-3; ATL3; HSN1F", "protein_names_uniprotkb": "Atlastin-3; 3.6.5.-; AT3; ATL-3", "protein_names_refseq": "atlastin-3 isoform 2; atlastin-3", "tax_id": 9606, "disease": "hereditary sensory neuropathy type 1F (Disease Ontology:DOID:0070154); hereditary spastic paraplegia 3A (Disease Ontology:DOID:0110791); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:25923)", "pathway_count": 1, "publication_count": 86, "publication_id_list": "10.1101/2023.09.13.557529;11237011;14506257;17081983;18270207;18491316;19608861;19665976;20068231;22424782;23186163;23481700;23969831;24190977;24459106;24715725;25548161;25576301;25645385;26154972;26992070;27452731;27600516;27619977;27920218;28228285;28602821;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30484775;30524438;31611695;31844290;32075961;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;33988678;34019948;34087483;34090020;34171305;34357683;34405274;34509645;34546351;34561969;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36856139;37102997;37938771;38665916;39302247;40914422", "class_list": "", "function": "A family of human GTPases, atlastin-2 and -3 that are closely related to atlastin-1 are described., [RefSeq, PubMed]; A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness., [RefSeq, PubMed]; ATL3 is implicated in the structural organization of intracellular organelles, which may be critical to axonal survival., [RefSeq, PubMed]; Atlastin 2/3 regulate ER targeting of the ULK1 complex to initiate autophagy., [RefSeq, PubMed]; Atlastin-3 (ATL3) is a membrane-anchored GTPase that mediates the GTP-dependent fusion of endoplasmic reticulum (ER) membranes, maintaining the continuous ER network. It facilitates the formation of three-way junctions where ER tubules intersect (PubMed:18270207, PubMed:19665976, PubMed:24459106, PubMed:27619977, PubMed:37102997). Two atlastin-3 on neighboring ER tubules bind GTP and form loose homodimers through the GB1/RHD3-type G domains and 3HB regions. Upon GTP hydrolysis, the 3HB regions tighten, pulling the membranes together to drive their fusion. After fusion, the homodimer disassembles upon release of inorganic phosphate (Pi). Subsequently, GDP dissociates, resetting the monomers to a conformation ready for a new fusion cycle (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Human atlastin-3 is a constitutive ER membrane fusion catalyst., [RefSeq, PubMed]; Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort., [RefSeq, PubMed]; This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 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": 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": 6, "reported_mutagensis": 6, "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": "Q8N7W5;Q9H8Q5;Q9UFL1", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;3.6.1.-;3.6.5.4;2.7.11.1;3.6.-.-;3.6.1.15;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0042802 identical protein binding;GO:0140523 GTPase-dependent fusogenic activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0071782 endoplasmic reticulum tubular network;GO:0098826 endoplasmic reticulum tubular network membrane", "go_biological_process": "GO:0051260 protein homooligomerization;GO:1990809 endoplasmic reticulum tubular network membrane organization;GO:0007029 endoplasmic reticulum organization;GO:0016320 endoplasmic reticulum membrane fusion", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q6DD88-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6H3-1", "uniprot_id": "ATP23_HUMAN", "mass": 28081.0, "length": 246, "protein_name": "Mitochondrial inner membrane protease ATP23 homolog", "gene_name": "ATP23", "organism": "Human", "refseq_name": "mitochondrial inner membrane protease ATP23 homolog isoform b", "refseq_ac": "NP_001307337", "gene_names_uniprotkb": "ATP23; KUB3; XRCC6BP1", "gene_names_refseq": "ATP23; KUB3; XRCC6BP1", "protein_names_uniprotkb": "Mitochondrial inner membrane protease ATP23 homolog; 3.4.24.-; Ku70-binding protein 3; XRCC6-binding protein 1", "protein_names_refseq": "Ku70-binding protein 3; XRCC6-binding protein 1; mitochondrial inner membrane protease ATP23 homolog isoform b; mitochondrial inner membrane protease ATP23 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:91419)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10219089;11237011;23670597;25576301;26992070;27600516;28228285;28832583;28834231;29242379;30315122;30379171;30429286;31844290;31998317;32157095;32387766;32897882;32983136;33592498;33968037;34509645", "class_list": "", "function": "The data provide the first evidence for a link between the level of KUB3 amplification and expression in glioma and DSB repair efficiency., [RefSeq, PubMed]; The protein encoded by this gene is amplified in glioblastomas and interacts with the DNA binding subunit of DNA-dependent protein kinase. This kinase is involved in double-strand break repair (DSB), and higher expression of the encoded protein increases the efficiency of DSB. In addition, comparison to orthologous proteins strongly suggests that this protein is a metalloprotease important in the biosynthesis of mitochondrial ATPase. Several transcript variants encoding different isoforms have been found for this gene. [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": 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": "Q1RLM4;Q96E81", "ec_number_list": "", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding;GO:0004677 DNA-dependent protein kinase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030054 cell junction;GO:0005958 DNA-dependent protein kinase-DNA ligase 4 complex", "go_biological_process": "GO:0006303 double-strand break repair via nonhomologous end joining;GO:0034982 mitochondrial protein processing;GO:0033615 mitochondrial proton-transporting ATP synthase complex assembly", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9Y6H3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQS1-1", "uniprot_id": "AVEN_HUMAN", "mass": 38506.0, "length": 362, "protein_name": "Cell death regulator Aven", "gene_name": "AVEN", "organism": "Human", "refseq_name": "cell death regulator Aven", "refseq_ac": "NP_065104", "gene_names_uniprotkb": "AVEN", "gene_names_refseq": "AVEN; PDCD12", "protein_names_uniprotkb": "Cell death regulator Aven", "protein_names_refseq": "apoptosis, caspase activation inhibitor; cell death regulator Aven; programmed cell death 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:57099); (R-HSA-111458); (R-HSA-9627069)", "pathway_count": 3, "publication_count": 37, "publication_id_list": "10949025;11237011;11408476;11734640;12620238;12660240;12941691;15271982;15345747;16388850;17081983;18083711;18303113;18571408;18669648;19651622;20068231;23186163;23301498;23521171;24129315;24367089;25313070;27388765;27697150;28192157;28832583;29693772;31768184;31787984;33592498;33936100;35322749;35580925;37816050;9267021;9390557", "class_list": "", "function": "AVEN and BIRC6 are inhibited by combination therapy of miR-30e and proanthocyanidin in glioblastoma stem cells Publication Status: Online-Only, [RefSeq, PubMed]; Aven expression was found to be higher in patients >or=10 years old or <1 year, and with unfavorable cytogenetic abnormalities. It was also significantly higher in relapsed patients in the standard-risk group and an independent poor prognostic factor., [RefSeq, PubMed]; Downregulation of apoptotic repressor AVEN exacerbates cardiac injury after myocardial infarction., [RefSeq, PubMed]; Expression of granulosa cell microRNAs, AVEN and ATRX are associated with human blastocyst development., [RefSeq, PubMed]; MiR-30b-5p expression was found to be significantly upregulated in hypoxic cardiomyocytes, AC16 cells. The in vitro experiments showed that downregulation of miR-30b-5p effectively alleviated hypoxia-induced cardiomyocyte injury. Aven is a potential target gene of miR-30b-5p and its downregulation could partially reverse the influence of miR-30b-5p knockdown on AC16 cells under hypoxia. Publication Status: Online-Only, [RefSeq, PubMed]; MicroRNA-30a contributes to pre-eclampsia through regulating the proliferation, apoptosis, and angiogenesis modulation potential of mesenchymal stem cells by targeting AVEN., [RefSeq, PubMed]; Point mutation observed by transcriptome sequencing of malignant pleural mesothelioma tumors, [RefSeq, PubMed]; Protects against apoptosis mediated by Apaf-1., [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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0010972 negative regulation of G2/M transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9NQS1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P54252-2", "uniprot_id": "ATX3_HUMAN", "mass": 41250.0, "length": 361, "protein_name": "Ataxin-3", "gene_name": "ATXN3", "organism": "Human", "refseq_name": "ataxin-3 isoform ad", "refseq_ac": "NP_001121168", "gene_names_uniprotkb": "ATXN3; ATX3; MJD1; MJD; SCA3", "gene_names_refseq": "AT3; ATX3; ATXN3; JOS; MJD1; MJD; SCA3", "protein_names_uniprotkb": "Ataxin-3; 3.4.19.12; Machado-Joseph disease protein 1; Spinocerebellar ataxia type 3 protein", "protein_names_refseq": "Machado-Joseph disease protein 1; ataxin-3 isoform ad; josephin; olivopontocerebellar ataxia 3; spinocerebellar ataxia type 3 protein", "tax_id": 9606, "disease": "late onset Parkinson's disease (Disease Ontology:DOID:0060892); Machado-Joseph disease (Disease Ontology:DOID:1440)", "pathway": " (hsa:4287); (R-HSA-5689877); (R-HSA-9615017)", "pathway_count": 3, "publication_count": 66, "publication_id_list": "10102273;10217147;10358014;10480625;10913147;10915768;11450850;11779849;12239572;12297501;12486728;16020535;16118278;16783365;16840535;17434145;17696782;18077418;18599482;19542537;19714377;20940148;21536589;23186163;23625928;23696636;24028821;24040102;27547294;27920218;28445460;28832583;29242379;29508533;29557506;29632711;30455355;31154438;31379806;31844290;31848261;31937595;32157095;32357974;32387766;32502341;32938616;33141586;33157014;33298915;33592498;33912179;33968037;34211107;34357683;34509645;35051231;37217939;38038129;38224924;38253038;38423193;38815863;7874163;9274833;9580663", "class_list": "", "function": "5-methylcytosine-mediated upregulation of circular RNA 0102913 augments malignant properties of colorectal cancer cells through a microRNA-571/Rac family small GTPase 2 axis., [RefSeq, PubMed]; ATXN3 functions as a tumor suppressor through potentiating galectin-9-mediated apoptosis in human colon adenocarcinoma., [RefSeq, PubMed]; Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease., [RefSeq, PubMed]; CRISPR screening identifies the deubiquitylase ATXN3 as a PD-L1-positive regulator for tumor immune evasion. Publication Status: Online-Only, [RefSeq, PubMed]; Data demonstrate high variability in the ATXN3 gene transcripts, providing a basis for further investigation on the contribution of alternative splicing to the MJD pathogenic process, as well as to the larger group of the polyglutamine disorders., [RefSeq, PubMed]; Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates (PubMed:12297501, PubMed:16118278, PubMed:17696782, PubMed:23625928, PubMed:28445460, PubMed:33157014). Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins (PubMed:17696782). Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension (By similarity). Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription (PubMed:12297501). Acts as a negative regulator of mTORC1 signaling in response to amino acid deprivation by mediating deubiquitination of RHEB, thereby promoting RHEB inactivation by the TSC-TBC complex (PubMed:33157014). Regulates autophagy via the deubiquitination of 'Lys-402' of BECN1 leading to the stabilization of BECN1 (PubMed:28445460)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described 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": 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": 4, "reported_glycation": 0, "reported_snv": 6, "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": "A7LFZ5;D6RDL9;E9PB63;O15284;O15285;O15286;Q8N189;Q96TC3;Q96TC4;Q9H3N0", "ec_number_list": "2.3.2.31;1.15.1.1;3.4.19.12;1.14.11.-;3.6.4.6", "go_molecular_function": "GO:0042802 identical protein binding;GO:0051117 ATPase binding;GO:0031625 ubiquitin protein ligase binding;GO:0004843 cysteine-type deubiquitinase activity;GO:0061578 K63-linked deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007399 nervous system development;GO:0016579 protein deubiquitination;GO:0070536 protein K63-linked deubiquitination;GO:0007268 chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "P54252-2", "record_type": "protein" }, { "uniprot_canonical_ac": "P54707-1", "uniprot_id": "AT12A_HUMAN", "mass": 115511.0, "length": 1039, "protein_name": "Potassium-transporting ATPase alpha chain 2", "gene_name": "ATP12A", "organism": "Human", "refseq_name": "potassium-transporting ATPase alpha chain 2 isoform 1", "refseq_ac": "NP_001172014", "gene_names_uniprotkb": "ATP12A; ATP1AL1", "gene_names_refseq": "ATP12A; ATP1AL1; H-K-ATPase; HK", "protein_names_uniprotkb": "Potassium-transporting ATPase alpha chain 2; 7.2.2.13; 7.2.2.19; HK alpha 2; Non-gastric H(+)/K(+) ATPase subunit alpha; Non-gastric Na(+)/K(+) ATPase subunit alpha; Proton pump; Sodium pump", "protein_names_refseq": "ATPase, H+/K+ transporting, nongastric, alpha polypeptide; ATPase, Na+/K+ transporting, alpha polypeptide-like 1; HK alpha 2; non-gastric Na(+)/K(+) ATPase subunit alpha; potassium-transporting ATPase alpha chain 2 isoform 1; potassium-transporting ATPase alpha chain 2; sodium pump", "tax_id": 9606, "disease": "familial hemiplegic migraine (Disease Ontology:DOID:0060178); Charcot-Marie-Tooth disease type 2DD (Disease Ontology:DOID:0111558); epilepsy (Disease Ontology:DOID:1826); hypokalemia (Disease Ontology:DOID:4500); nervous system disease (Disease Ontology:DOID:863)", "pathway": " (hsa:479); (R-HSA-936837)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10401004;10484781;10615129;10767338;11341842;15831496;15919184;15925480;16182249;1656976;16700898;16914892;18292551;1847115;18723824;19345671;19413330;19878721;20068231;2160952;22179016;22186024;23196729;24392018;24715725;25366262;26823428;27067231;29391451;29557506;30333310;3035563;3036582;30484775;31530632;32502341;33392160;33912179;33968037;35051231;36010968;6832622;7485470;7626145;8045293;8298639;8490646;8490659;8838794;8853415;9147644;9307043;9774385;9872395", "class_list": "", "function": "ATP12A knockdown or inhibition prevented the IL-13 dependent increase in airway surface liquid (ASL) viscosity but did not alter the ASL pH Publication Status: Online-Only, [RefSeq, PubMed]; Expressing human ATP12A in cystic fibrosis mouse airways acidified airway surface liquid, impaired defenses, and increased airway bacteria., [RefSeq, PubMed]; Genetic association studies show that carriers of ATP12A rs10507337 C allele or CCTTC haplotype had better pattern of myocardial relaxation as compared to non-carriers. Publication Status: Online-Only, [RefSeq, PubMed]; Study in fresh bronchial samples and in cultured epithelial cells found that ATP12A expressed almost exclusively at the apical side of non-ciliated cells of airway epithelium and in submucosal glands, with much higher expression in cystic fibrosis samples. ATP12A upregulation is associated with depletion of K+ in airway surface liquid, an effect that may have an important role in the barrier function of airway epithelium. Publication Status: Online-Only, [RefSeq, PubMed]; The catalytic subunit of a H(+)/K(+) ATPase and/or Na(+)/K(+) ATPase pump which transports K(+) ions in exchange for Na(+) and/or H(+) ions across the apical membrane of epithelial cells. Uses ATP as an energy source to pump K(+) ions into the cell while transporting Na(+) and/or H(+) ions to the extracellular compartment (PubMed:11341842, PubMed:7485470, PubMed:8853415, PubMed:9774385). Involved in the maintenance of electrolyte homeostasis through K(+) ion absorption in kidney and colon (By similarity). In the airway epithelium, may play a primary role in mucus acidification regulating its viscosity and clearance (PubMed:29391451)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 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": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 11, "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": "Q13816;Q13817;Q16734;Q5W035;Q8N5U2", "ec_number_list": "7.2.2.13;7.2.2.19", "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0005391 P-type sodium:potassium-exchanging transporter activity;GO:0008900 P-type potassium:proton transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane;GO:0005889 potassium:proton exchanging ATPase complex", "go_biological_process": "GO:0006883 intracellular sodium ion homeostasis;GO:0030007 intracellular potassium ion homeostasis;GO:0036376 sodium ion export across plasma membrane;GO:1990573 potassium ion import across plasma membrane;GO:1902600 proton transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "P54707-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P54710-1", "uniprot_id": "ATNG_HUMAN", "mass": 7283.0, "length": 66, "protein_name": "Sodium/potassium-transporting ATPase subunit gamma", "gene_name": "FXYD2", "organism": "Human", "refseq_name": "sodium/potassium-transporting ATPase subunit gamma isoform 1", "refseq_ac": "NP_001671", "gene_names_uniprotkb": "FXYD2; ATP1C; ATP1G1", "gene_names_refseq": "ATP1G1; FXYD2; HOMG2", "protein_names_uniprotkb": "Sodium/potassium-transporting ATPase subunit gamma; FXYD domain-containing ion transport regulator 2; Na(+)/K(+) ATPase subunit gamma; Sodium pump gamma chain", "protein_names_refseq": "ATPase, Na+/K+ transporting, gamma 1 polypeptide; Na(+)/K(+) ATPase subunit gamma; sodium pump gamma chain; sodium/potassium-transporting ATPase subunit gamma isoform 1", "tax_id": 9606, "disease": "renal hypomagnesemia 2 (Disease Ontology:DOID:0060885)", "pathway": " (hsa:486); (R-HSA-5578775); (R-HSA-936837); (R-HSA-9679191)", "pathway_count": 4, "publication_count": 95, "publication_id_list": "10087012;10220561;10401004;10484781;10615129;10767338;10913253;11062458;11112438;11904675;12119109;12832055;12953268;15174025;15260953;15598648;15754088;15831496;15919184;15925480;16115318;16182249;16522641;1656976;16700898;16754674;1693919;17224452;17357072;17486119;17662961;18723824;18995841;19278978;19345671;19751721;19878721;20223979;20388710;21108950;2160952;22186024;22210847;2226863;22401777;22427649;22552008;22707725;22814904;22972900;23196729;23362265;23549614;23610579;23641311;24272870;2430951;24392018;24584101;2477373;25502872;2559024;25801024;25994790;26002965;27067231;2838329;28411811;28425720;28645727;2953725;29557506;29945920;30201761;31048504;33912179;34078123;34433824;36313180;37217939;6328127;6832622;7626145;7702581;7929371;8045293;8298639;8490646;8490659;8798450;8918259;9048881;9147644;9307043;9346285", "class_list": "", "function": "Downregulation of FXYD2 Is Associated with Poor Prognosis and Increased Regulatory T Cell Infiltration in Clear Cell Renal Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase., [UniProtKB]; This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes the sodium/potassium-transporting ATPase subunit gamma. Mutations in this gene have been associated with Renal Hypomagnesemia-2. Alternatively spliced transcript variants have been described. Read-through transcripts have been observed between this locus and the upstream FXYD domain-containing ion transport regulator 6 (FXYD6, GeneID 53826) 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": 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": "Q15332;Q53YC1;Q9GZP3;Q9GZQ7", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0017080 sodium channel regulator activity;GO:0001671 ATPase activator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0070062 extracellular exosome;GO:0005890 sodium:potassium-exchanging ATPase complex", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0055085 transmembrane transport;GO:0010248 establishment or maintenance of transmembrane electrochemical gradient;GO:0036376 sodium ion export across plasma membrane;GO:1903278 positive regulation of sodium ion export across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "P54710-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P56381-1", "uniprot_id": "ATP5E_HUMAN", "mass": 5780.0, "length": 51, "protein_name": "ATP synthase F(1) complex subunit epsilon, mitochondrial", "gene_name": "ATP5F1E", "organism": "Human", "refseq_name": "ATP synthase F(1) complex subunit epsilon, mitochondrial", "refseq_ac": "NP_008817", "gene_names_uniprotkb": "ATP5F1E; ATP5E", "gene_names_refseq": "ATP5E; ATP5F1E; ATPE; MC5DN3", "protein_names_uniprotkb": "ATP synthase F(1) complex subunit epsilon, mitochondrial; ATP synthase F1 subunit epsilon; ATPase subunit epsilon", "protein_names_refseq": "ATP synthase F(1) complex subunit epsilon, mitochondrial; ATP synthase subunit epsilon, mitochondrial; ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit; F(0)F(1)-ATPase; H(+)-transporting two-sector ATPase; mitochondrial ATP synthase epsilon chain; mitochondrial ATPase", "tax_id": 9606, "disease": "mitochondrial complex V (ATP synthase) deficiency nuclear type 3 (Disease Ontology:DOID:0060332)", "pathway": " (hsa:514); (R-HSA-163210); (R-HSA-8949613)", "pathway_count": 3, "publication_count": 78, "publication_id_list": "10727396;10931946;17121862;17510655;17624330;18323778;19608861;20026007;20566710;20833715;21836051;22114354;22252321;22645359;22864911;24098383;24687277;25285856;25418920;25576301;25645385;25764979;25781180;25892735;25997101;26024233;26375851;26416881;26477565;26530328;26968360;26992070;27479602;27485409;27623147;27846572;27862975;28218747;28510447;28514659;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29557506;29632711;29786170;30429286;31154438;31217245;31530632;31611695;31844290;31998317;32387766;32983136;33123756;33298915;33592498;33633747;33717175;33912179;33981976;34171305;34357683;34954817;35051231;35580925;36215666;36625260;37244256;37938771;38665916;4517936", "class_list": "", "function": "Hsa_circ_0079480 enhances cell proliferation, migration, and invasion in colorectal cancer through miR-498/ATP5E axis., [RefSeq, PubMed]; Subunit epsilon, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (PubMed:37244256). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk (PubMed:37244256). During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation (Probable). In vivo, can only synthesize ATP although its ATP hydrolase activity can be activated artificially in vitro (By similarity). May be essential for the assembly of F(1) and may play an important role in the incorporation of the hydrophobic subunit c into the F(1)-c oligomer rotor of the mitochondrial ATP synthase complex (PubMed:20026007)., [UniProtKB, PubMed, UniProtKB, PubMed]; This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[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": 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": "B2RDD0;E1P5H6;Q53XU6", "ec_number_list": "", "go_molecular_function": "GO:0016787 hydrolase activity;GO:0046933 proton-transporting ATP synthase activity, rotational mechanism", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0045259 proton-transporting ATP synthase complex", "go_biological_process": "GO:0015986 proton motive force-driven ATP synthesis;GO:0042776 proton motive force-driven mitochondrial ATP synthesis", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "P56381-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P82987-1", "uniprot_id": "ATL3_HUMAN", "mass": 188692.0, "length": 1691, "protein_name": "ADAMTS-like protein 3", "gene_name": "ADAMTSL3", "organism": "Human", "refseq_name": "ADAMTS-like protein 3 isoform b precursor", "refseq_ac": "NP_001288039", "gene_names_uniprotkb": "ADAMTSL3; KIAA1233", "gene_names_refseq": "ADAMTSL-3; ADAMTSL3", "protein_names_uniprotkb": "ADAMTS-like protein 3; ADAMTSL-3; Punctin-2", "protein_names_refseq": "ADAMTS-like protein 3 isoform b precursor; ADAMTS-like protein 3; a disintegrin-like and metalloprotease domain with thrombospondin type I motifs-like 3; punctin-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57188); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 3, "publication_count": 27, "publication_id_list": "11067851;14667842;16464858;16959974;17597111;18391952;18720094;19796186;22588082;23889335;25544610;26992070;27862975;28135336;29162515;29242379;29351928;30429286;30459171;32266537;32938616;32983136;35051231;35494241;35580925;37074911;37217939", "class_list": "", "function": "A137T in ADAMTSL3 may be a susceptibility mutation for diabetes., [RefSeq, PubMed]; ADAMTSL3 is expressed in numerous tissues, suggesting a broader regulatory role than in colorectal epithelium alone, and that colorectal cancer has both structural mutations as well as decreased expression of ADAMTSL3., [RefSeq, PubMed]; Highest expression of ADAMTSL3 was found in liver, kidney, heart and skeletal muscle., [RefSeq, PubMed]; Knocking out either the ADAMTSL3 or PTEN genes promoted either the proliferation or metastasis of hepatocellular carcinoma cells, respectively, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 15, "predicted_n_glycosites": 15, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 98, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "A1A566;A1A567;Q9ULI7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0031012 extracellular matrix", "go_biological_process": "GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "P82987-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q00994-1", "uniprot_id": "BEX3_HUMAN", "mass": 12959.0, "length": 111, "protein_name": "Protein BEX3", "gene_name": "BEX3", "organism": "Human", "refseq_name": "protein BEX3 isoform b", "refseq_ac": "NP_055195", "gene_names_uniprotkb": "BEX3; DXS6984E; NADE; NGFRAP1", "gene_names_refseq": "BEX3; Bex; DXS6984E; HGR74; Hero20; NADE; NGFRAP1", "protein_names_uniprotkb": "Protein BEX3; Brain-expressed X-linked protein 3; Nerve growth factor receptor-associated protein 1; Ovarian granulosa cell 13.0 kDa protein HGR74; p75NTR-associated cell death executor", "protein_names_refseq": "brain-expressed X-linked protein 3; nerve growth factor receptor (TNFRSF16) associated protein 1; ovarian granulosa cell 13.0 kDa protein HGR74; p75NTR-associated cell death executor; protein BEX3 isoform b; protein BEX3", "tax_id": 9606, "disease": "glaucoma (Disease Ontology:DOID:1686); transient cerebral ischemia (Disease Ontology:DOID:224)", "pathway": " (hsa:27018); (R-HSA-205025)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10764727;11278287;11830582;15958283;2171551;25576301;28083995;29242379;29393594;29557506;29786170;30429286;31154438;31844290;31848261;32387766;33100228;33633747;33968037;34171305;34561969;35051231;35580925;36241641;37938771", "class_list": "", "function": "Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions. Publication Status: Online-Only, [RefSeq, PubMed]; May be a signaling adapter molecule involved in NGFR/p75NTR-mediated apoptosis induced by NGF. Plays a role in zinc-triggered neuronal death. In absence of reductive stress, acts as a pseudosubstrate for the CRL2(FEM1B) complex: associates with FEM1B via zinc, thereby preventing association between FEM1B and its substrates., [UniProtKB, UniProtKB]; Results showed that BEX3 was overexpressed in nasopharyngeal carcinoma (NPC), and indicated a unique functional role of BEX3 in mediating the sensitivity of NPC cells to cisplatin., [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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RD17;D3DXA3;Q5JQT4;Q5JQT5", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process;GO:0005163 nerve growth factor receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:2001233 regulation of apoptotic signaling pathway;GO:0007165 signal transduction;GO:0031397 negative regulation of protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q00994-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16720-1", "uniprot_id": "AT2B3_HUMAN", "mass": 134197.0, "length": 1220, "protein_name": "Plasma membrane calcium-transporting ATPase 3", "gene_name": "ATP2B3", "organism": "Human", "refseq_name": "plasma membrane calcium-transporting ATPase 3 isoform 3b", "refseq_ac": "NP_001001344", "gene_names_uniprotkb": "ATP2B3", "gene_names_refseq": "ATP2B3; CFAP39; CLA2; OPCA; PMCA3a; PMCA3; SCAX1", "protein_names_uniprotkb": "Plasma membrane calcium-transporting ATPase 3; 7.2.2.10; PMCA3; Plasma membrane calcium ATPase isoform 3; Plasma membrane calcium pump isoform 3", "protein_names_refseq": "ATPase, Ca++ transporting, plasma membrane 3; cilia and flagella associated protein 39; plasma membrane calcium ATPase; plasma membrane calcium pump; plasma membrane calcium-transporting ATPase 3 isoform 3b; plasma membrane calcium-transporting ATPase 3", "tax_id": 9606, "disease": "Hailey-Hailey disease (Disease Ontology:DOID:0050429); X-linked spinocerebellar ataxia 1 (Disease Ontology:DOID:0111829); pre-eclampsia (Disease Ontology:DOID:10591); gestational diabetes (Disease Ontology:DOID:11714)", "pathway": " (hsa:492); (R-HSA-418359); (R-HSA-5578775); (R-HSA-936837)", "pathway_count": 4, "publication_count": 101, "publication_id_list": "10220561;10401004;10484781;10615129;10767338;10854409;10913253;11062458;11237011;11904675;12119109;12406570;12763866;12832055;12953268;1374913;15174025;15260953;15598648;15754088;15831496;15919184;15925480;16182249;1656976;16700898;16754674;1693919;17224452;17357072;17486119;18029012;18723824;18995841;19278978;19345671;19751721;19878721;20298697;20388710;21108950;2160952;22186024;22210847;2226863;22427649;22707725;22912398;22972900;23196729;23362265;23549614;23610579;2430951;24392018;24715725;2477373;2559024;25953895;25994790;26351028;26421717;26758079;27035656;27067231;27632770;2838329;2844759;28645727;28807751;28834231;28904123;2953725;31154438;32938616;32983136;33392160;33592498;33968037;35051231;36207321;37217939;5961668;6328127;6832622;7626145;7702581;7929371;8021246;8045293;8187550;8245032;8298639;8490646;8490659;8765088;8798450;8918259;9147644;9307043;9346285", "class_list": "", "function": "ATP-driven Ca(2+) ion pump involved in the maintenance of basal intracellular Ca(2+) levels at the presynaptic terminals (PubMed:18029012, PubMed:22912398, PubMed:25953895, PubMed:27035656). Uses ATP as an energy source to transport cytosolic Ca(2+) ions across the plasma membrane to the extracellular compartment (PubMed:25953895, PubMed:27035656). May counter-transport protons, but the mechanism and the stoichiometry of this Ca(2+)/H(+) exchange remains to be established (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Authors report a novel PMCA3 mutation (G733R substitution) in the catalytic P-domain of the pump in a patient affected by non-progressive ataxia, muscular hypotonia, dysmetria and nystagmus., [RefSeq, PubMed]; Catalyzes the hydrolysis of ATP coupled with the transport of calcium., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Different mutations (KCNJ5, ATP1A1, ATP2B3, and CACNA1D) are found in different aldosterone-producing nodules from the same adrenal, suggesting that somatic mutations are independent events triggered by mechanisms that remain to be identified., [RefSeq, PubMed]; In summary, the APA-associated ATP2B3(Leu425_Val426del) mutant promotes aldosterone production by at least 2 different mechanisms: 1) a reduced Ca(2+) export due to the loss of the physiological pump function; and 2) an increased Ca(2+) influx due to opening of depolarization-activated Ca(2+) channels as well as a possible Ca(2+) leak through the mutated pump., [RefSeq, PubMed]; The ataxia related G1107D mutation of the PMCA 3 impairs its calcium pumping function. The mutation affects the interplay of calmodulin with its binding domain on the pump, decreasing its stimulation., [RefSeq, PubMed]; The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca(2+)-microdomains by tuning PMCA3 activity. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. 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": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 22, "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": "B7WNR8;B7WNY5;Q12995;Q16858", "ec_number_list": "7.2.2.10", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0005388 P-type calcium transporter activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:1903561 extracellular vesicle;GO:0042734 presynaptic membrane", "go_biological_process": "GO:0034220 monoatomic ion transmembrane transport;GO:0051480 regulation of cytosolic calcium ion concentration;GO:1903779 regulation of cardiac conduction;GO:1990034 calcium ion export across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q16720-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T9A4-1", "uniprot_id": "ATD3B_HUMAN", "mass": 72573.0, "length": 648, "protein_name": "ATPase family AAA domain-containing protein 3B", "gene_name": "ATAD3B", "organism": "Human", "refseq_name": "ATPase family AAA domain-containing protein 3B isoform AAA-TOB3s precursor", "refseq_ac": "NP_001304167", "gene_names_uniprotkb": "ATAD3B; KIAA1273; TOB3", "gene_names_refseq": "AAA-TOB3; ATAD3B; TOB3", "protein_names_uniprotkb": "ATPase family AAA domain-containing protein 3B; AAA-TOB3", "protein_names_refseq": "AAA-ATPase TOB3; ATPase family AAA domain-containing protein 3B isoform AAA-TOB3s precursor; ATPase family AAA domain-containing protein 3B", "tax_id": 9606, "disease": "Harel-Yoon syndrome (Disease Ontology:DOID:0081395)", "pathway": " (hsa:83858); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "11237011;16909202;17210950;18063578;18639545;19608861;22223895;22453275;22664726;23481700;23650620;23818839;25418920;25576301;28063628;28218747;28623644;29393594;29632046;31844290;32265295;32387766;32938616;33665835;33912179;33968037;34171305;35051231;35136033;37286092;8692836", "class_list": "", "function": "AAA-TOB3 was highly expressed in lung adenocarcinoma, and the up-regulation of AAA-TOB3 correlated with lymph node metastasis and advanced stage of lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; ATAD3B and SKIL polymorphisms associated with antipsychotic-induced QTc interval change in patients with schizophrenia: a genome-wide association study. Publication Status: Online-Only, [RefSeq, PubMed]; ATAD3B is a mitophagy receptor mediating clearance of oxidative stress-induced damaged mitochondrial DNA., [RefSeq, PubMed]; ATAD3B is a negative regulator of ATAD3A and may function as an adaptor of mitochondrial homeostasis and metabolism in human pluripotent embryonic stem cells and cancer cells., [RefSeq, PubMed]; Circ_ATAD3B inhibits cell proliferation of breast cancer via mediating the miR-570-3p/MX2 axis., [RefSeq, PubMed]; May play a role in a mitochondrial network organization typical for stem cells, characterized by reduced mitochondrial metabolism, low mtDNA copies and fragmentated mitochondrial network. May act by suppressing ATAD3A function, interfering with ATAD3A interaction with matrix nucleoid complexes., [UniProtKB, PubMed]; Results indicated the ATAD3B gene, which does not have ERalpha binding site within 20 kb of its TSS, to be significantly associated with poor patient survival., [RefSeq, PubMed]; Results suggest that mitochondrial DNA displacement loops serve to recruit ATAD3 protein for the purpose of forming or segregating mitochondrial nucleoids., [RefSeq, PubMed]; The protein encoded by this gene is localized to the mitochondrial inner membrane, where it can bind to a highly-related protein, ATAD3A. ATAD3A appears to interact with matrix nucleoid complexes, and the encoded protein negatively regulates that interaction. This gene is expressed almost exclusively in pluripotent embryonic stem cells and some cancer cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]., [RefSeq]; These results demonstrate the potential for ATAD 3B as a putative marker in discriminating astrocytomas from oligodendrogliomas., [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": "A8K3H1;Q6ZRB5;Q9BUK4;Q9ULE7", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005886 plasma membrane;GO:0030667 secretory granule membrane;GO:0101003 ficolin-1-rich granule membrane", "go_biological_process": "GO:0007005 mitochondrion organization", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q5T9A4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VTU8-1", "uniprot_id": "AT5EL_HUMAN", "mass": 5807.0, "length": 51, "protein_name": "ATP synthase subunit epsilon-like protein, mitochondrial", "gene_name": "ATP5F1EP2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ATP5F1EP2; ATP5EP2", "gene_names_refseq": "", "protein_names_uniprotkb": "ATP synthase subunit epsilon-like protein, mitochondrial; ATP synthase F1 subunit epsilon pseudogene 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "mitochondrial complex V (ATP synthase) deficiency nuclear type 3 (Disease Ontology:DOID:0060332)", "pathway": "", "pathway_count": 0, "publication_count": 37, "publication_id_list": "17924679;25645385;27600516;27893789;28228285;28514659;28832583;29242379;29331515;29393594;29508533;29557506;29632711;29769354;30192525;30315122;30429286;30484775;31154438;31530632;31611695;31848261;31998317;32157095;32161166;32265295;32350084;32938616;32983136;33592498;34561969;35051231;35561310;35580925;36215666;36241641;36581221", "class_list": "", "function": "Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits (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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0016787 hydrolase activity;GO:0046933 proton-transporting ATP synthase activity, rotational mechanism", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045259 proton-transporting ATP synthase complex", "go_biological_process": "GO:0015986 proton motive force-driven ATP synthesis;GO:0042776 proton motive force-driven mitochondrial ATP synthesis", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q5VTU8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6AI39-1", "uniprot_id": "BICRL_HUMAN", "mass": 115084.0, "length": 1079, "protein_name": "BRD4-interacting chromatin-remodeling complex-associated protein-like", "gene_name": "BICRAL", "organism": "Human", "refseq_name": "BRD4-interacting chromatin-remodeling complex-associated protein-like", "refseq_ac": "NP_001305748", "gene_names_uniprotkb": "BICRAL; GLTSCR1L; KIAA0240", "gene_names_refseq": "BICRAL; GLTSCR1L; KIAA0240; SMARCK2", "protein_names_uniprotkb": "BRD4-interacting chromatin-remodeling complex-associated protein-like; Glioma tumor suppressor candidate region gene 1 protein-like", "protein_names_refseq": "BRD4 interacting chromatin remodeling complex associated protein like; BRD4 interacting chromatin remodelling complex associated protein like; BRD4-interacting chromatin-remodeling complex-associated protein-like; GLTSCR1 like; glioma tumor suppressor candidate region gene 1 protein-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:23506); (R-HSA-9933947)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "20068231;21555454;22464331;23186163;24715725;25576301;26365797;26992070;27846572;28832583;28834231;29237092;29242379;29351928;29374058;29557506;30059200;30429286;30524438;31154438;31492838;31844290;32157095;32387766;32574038;32938616;32938750;32983136;33214551;33298915;33592498;33968037;33981976;34019948;34211107;34932366;35051231;35254053;35289036;35513511;35580925;36010968;37340703;37541260;38665916;39302247;39531497;39534244", "class_list": "", "function": "Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner., [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": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "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": 11, "binding_glycan_count": 0, "secondary_ac_list": "A1L3W2;Q5TFZ3;Q92514", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016514 SWI/SNF complex;GO:0000785 chromatin", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:0006338 chromatin remodeling;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008284 positive regulation of cell population proliferation;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q6AI39-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ICH7-1", "uniprot_id": "ASPH2_HUMAN", "mass": 41699.0, "length": 369, "protein_name": "Aspartate beta-hydroxylase domain-containing protein 2", "gene_name": "ASPHD2", "organism": "Human", "refseq_name": "aspartate beta-hydroxylase domain-containing protein 2", "refseq_ac": "NP_065170", "gene_names_uniprotkb": "ASPHD2", "gene_names_refseq": "ASPHD2", "protein_names_uniprotkb": "Aspartate beta-hydroxylase domain-containing protein 2; 1.14.11.-", "protein_names_refseq": "aspartate beta-hydroxylase domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57168)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "26154972;26992070;27920218;28832583;28834231;29242379;29632711;30429286;31844290;32157095;32938616;33717175;33912179;34171305;34357683;34932366;35051231", "class_list": "", "function": "May function as 2-oxoglutarate-dependent dioxygenase., [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": 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": "B2RCH3;Q7L0W3;Q9NSN3", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0051213 dioxygenase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q6ICH7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UXY1-1", "uniprot_id": "BI2L2_HUMAN", "mass": 58987.0, "length": 529, "protein_name": "BAR/IMD domain-containing adapter protein 2-like 2", "gene_name": "BAIAP2L2", "organism": "Human", "refseq_name": "BAR/IMD domain-containing adapter protein 2-like 2", "refseq_ac": "NP_079321", "gene_names_uniprotkb": "BAIAP2L2; PRO34007", "gene_names_refseq": "BAIAP2L2", "protein_names_uniprotkb": "BAR/IMD domain-containing adapter protein 2-like 2; BAI1-associated protein 2-like protein 2; Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2; Pinkbar; Planar intestinal- and kidney-specific BAR domain protein", "protein_names_refseq": "BAI1 associated protein 2 like 2; BAI1-associated protein 2-like protein 2; BAR/IMD domain-containing adapter protein 2-like 2; brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2; pinkbar; planar intestinal- and kidney-specific BAR domain protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:80115); (R-HSA-9035034)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "11237011;12975309;16777452;17765681;18477386;20233848;21119010;21743456;23096567;25668492;27278019;27481945;27862975;29242379;29557506;29789417;30379171;30483805;31154438;31871319;32570120;32938616;32983136;33646530;34185709;35051231;35580925;36284347;36520027;37248248;39894887", "class_list": "", "function": "BAIAP2L2 facilitates the malignancy of prostate cancer (PCa) via VEGF and apoptosis signaling pathways., [RefSeq, PubMed]; BAIAP2L2 is a novel prognostic biomarker related to migration and invasion of HCC and associated with cuprotosis. Publication Status: Online-Only, [RefSeq, PubMed]; BAIAP2L2 promotes the progression of gastric cancer via AKT/mTOR and Wnt3a/beta-catenin signaling pathways., [RefSeq, PubMed]; HNF1beta-associated cyst development and electrolyte disturbances are not explained by BAIAP2L2 expression., [RefSeq, PubMed]; Phosphoinositides-binding protein that induces the formation of planar or gently curved membrane structures. Binds to phosphoinositides, including to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) headgroups. There seems to be no clear preference for a specific phosphoinositide (By similarity)., [UniProtKB]; The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012]., [RefSeq]; These findings revealed BAIAP2L2 as a novel biomarker and potential therapeutic target for lung 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": 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": 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": "B0QYE2;Q96BG7", "ec_number_list": "", "go_molecular_function": "GO:0005543 phospholipid binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030659 cytoplasmic vesicle membrane;GO:0044291 cell-cell contact zone", "go_biological_process": "GO:0007009 plasma membrane organization;GO:0061024 membrane organization;GO:0051017 actin filament bundle assembly;GO:0051764 actin crosslink formation;GO:0030838 positive regulation of actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q6UXY1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZUJ8-1", "uniprot_id": "BCAP_HUMAN", "mass": 90398.0, "length": 805, "protein_name": "Phosphoinositide 3-kinase adapter protein 1", "gene_name": "PIK3AP1", "organism": "Human", "refseq_name": "phosphoinositide 3-kinase adapter protein 1", "refseq_ac": "NP_689522", "gene_names_uniprotkb": "PIK3AP1; BCAP", "gene_names_refseq": "BCAP; PIK3AP1", "protein_names_uniprotkb": "Phosphoinositide 3-kinase adapter protein 1; B-cell adapter for phosphoinositide 3-kinase; B-cell phosphoinositide 3-kinase adapter protein 1", "protein_names_refseq": "B cell adaptor protein; B-cell adapter for phosphoinositide 3-kinase; B-cell phosphoinositide 3-kinase adapter protein 1; phosphoinositide 3-kinase adapter protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:118788); (R-HSA-1257604); (R-HSA-2219530); (R-HSA-6811558); (R-HSA-983695)", "pathway_count": 5, "publication_count": 192, "publication_id_list": "10051622;10191262;10432293;10498607;10556826;10648173;10706702;10770799;1081164;10880360;10983984;11042164;11071869;11147812;11226282;11449366;11606584;11803464;11901194;11909947;12167717;12181444;12453414;12456653;12573241;12767043;1325671;1372019;1374290;1375264;1376928;15161916;15187135;1550550;15509800;15718470;15834429;15893754;1599430;16339315;16385451;16456541;16497976;16647110;16849466;16906149;1702903;1705565;17200115;17224452;17452328;17486119;17626883;17693683;18006696;18025150;18052078;18079394;18083107;18187424;18317450;18326500;18337558;18420269;18594509;18596693;18606717;18754654;18755892;18818202;18829560;18843204;18925875;18995841;19185485;19206206;19249086;19372136;19411071;19576174;19644473;19805105;19962665;2011584;20166139;20192804;20197460;20231295;20338997;20522708;20713702;21188471;21317208;21368164;21408196;21469132;21478295;21668414;21822214;21827948;21872626;21976531;21984976;22120714;22180443;22188813;22210847;22588880;22802530;2303036;2304550;23186163;23481700;24275569;24397554;24714562;24715725;25502872;25505266;25576301;25880248;26154972;26375851;26811146;26992070;27846572;27862975;28228285;28834231;28904123;29437277;29508533;29557506;29632711;29789417;30410026;30429286;31844290;32157095;32265295;32357974;32387766;32502341;32793186;32897882;32983136;33141586;33298915;33691108;33717175;33912179;33936100;34211107;34509645;34561969;34839795;34870753;34932366;3500860;35051231;35561310;35580925;36284347;37938771;40914422;4589993;6335036;7524079;7528218;7538118;7592958;7637810;7687428;7687539;7688784;7691807;7744773;7927516;803528;8163536;8306975;8645157;8657148;8947047;9235916;9326643;9341187;9382888;9697839;9705962;9736715;9895304", "class_list": "", "function": "Abi-1 promotes Abl-mediated BCAP phosphorylation and suggest that Abi-1 in general coordinates kinase-substrate interactions, [RefSeq, PubMed]; MiR-1246 regulates the PI3K/AKT signaling pathway by targeting PIK3AP1 and inhibits thyroid cancer cell proliferation and tumor growth., [RefSeq, PubMed]; Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Overexpression of long non-coding RNA WT1-AS or silencing of PIK3AP1 are inhibitory to cervical cancer progression., [RefSeq, PubMed]; PIK3AP1 and SPON2 Genes Are Differentially Methylated in Patients With Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Signaling adapter that contributes to B-cell development by linking B-cell receptor (BCR) signaling to the phosphoinositide 3-kinase (PI3K)-Akt signaling pathway. Has a complementary role to the BCR coreceptor CD19, coupling BCR and PI3K activation by providing a docking site for the PI3K subunit PIK3R1. Alternatively, links Toll-like receptor (TLR) signaling to PI3K activation, a process preventing excessive inflammatory cytokine production. Also involved in the activation of PI3K in natural killer cells. May be involved in the survival of mature B-cells via activation of REL., [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": 17, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5TB56;Q5VXJ9;Q8N6J6;Q8NAC8", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0042802 identical protein binding;GO:0036312 phosphatidylinositol 3-kinase regulatory subunit binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0050727 regulation of inflammatory response;GO:0034134 toll-like receptor 2 signaling pathway;GO:0034142 toll-like receptor 4 signaling pathway;GO:0034154 toll-like receptor 7 signaling pathway", "synthesized_glycan_count": 0, "hit_score": 19.5, "record_id": "Q6ZUJ8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q76L83-1", "uniprot_id": "ASXL2_HUMAN", "mass": 153820.0, "length": 1435, "protein_name": "Putative Polycomb group protein ASXL2", "gene_name": "ASXL2", "organism": "Human", "refseq_name": "putative Polycomb group protein ASXL2 isoform 1", "refseq_ac": "NP_060733", "gene_names_uniprotkb": "ASXL2; ASXH2; KIAA1685", "gene_names_refseq": "ASXH2; ASXL2; SHAPNS", "protein_names_uniprotkb": "Putative Polycomb group protein ASXL2; Additional sex combs-like protein 2", "protein_names_refseq": "additional sex combs like 2, transcriptional regulator; additional sex combs-like protein 2; polycomb group protein ASXH2; putative Polycomb group protein ASXL2 isoform 1; putative Polycomb group protein ASXL2", "tax_id": 9606, "disease": "Shashi-Pena syndrome (MONDO:MONDO:0014963)", "pathway": " (hsa:55252); (R-HSA-5689603)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "11237011;15302935;16906146;17139257;17525332;18452278;18497827;18669648;19188440;19413330;19664994;19815555;20068231;20436459;20805357;21047783;21209280;23186163;23481700;24634419;24714562;24715725;2530630;25576301;25835095;26154972;26992070;27693232;27869121;28218747;28228285;28514659;28657654;28832583;28834231;29237092;29242379;29393594;29437277;29493099;29557506;29786170;30059200;30315122;30410026;30524438;30620550;30664650;31154438;31217245;31492838;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32897882;32938616;32938750;32983136;33141586;33298915;33537174;33592498;33751773;33812414;33912179;33968037;34019948;34087483;34171305;34357683;34509645;35051231;35132862;35254053;35289036;35494241;35513511;35580925;36010968;36180891;36215666;38613831;38665916;39531497;40307207;40596516;9528852;9790970", "class_list": "", "function": "ASXL1 represses, whereas ASXL2 increases, the expression of adipogenic genes, most of which are PPARgamma targets, [RefSeq, PubMed]; ASXL1, ASXL2 and ASXL3 are epigenetic scaffold proteins that are involved in the pathogenesis of non-cancerous diseases and cancers.[Review] Review article, [RefSeq, PubMed]; Exploring the landscape of somatic ASXL2 mutations in myeloid neoplasms: Frequency and clinical implications., [RefSeq, PubMed]; Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator for PPARG and enhances its adipocyte differentiation-inducing activity; the function seems to involve differential recruitment of acetylated and methylated histone H3. Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) (PubMed:30664650, PubMed:36180891). The PR-DUB complex is an epigenetic regulator of gene expression and acts as a transcriptional coactivator, affecting genes involved in development, cell communication, signaling, cell proliferation and cell viability (PubMed:30664650, PubMed:36180891). ASXL1, ASXL2 and ASXL3 function redundantly in the PR-DUB complex (By similarity) (PubMed:30664650). The ASXL proteins are essential for chromatin recruitment and transcriptional activation of associated genes (By similarity). ASXL1 and ASXL2 are important for BAP1 protein stability (PubMed:30664650)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturally occurring mutations in this gene are associated with cancer in several tissue types (breast, bladder, pancreas, ovary, prostate, and blood). This gene plays an important role in neurodevelopment, cardiac function, adipogenesis, and osteoclastogenesis. [provided by RefSeq, Feb 2017]., [RefSeq]; Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature., [RefSeq, PubMed]; [The Relationship between ASXL2 and ZBTB7A Gene Mutations and Prognosis in Patients with Acute Myeloid Leukemia]., [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": 23, "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": "Q53TC9;Q5H9U4;Q76L81;Q86XM1;Q9C0H8;Q9NV67", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0042975 peroxisome proliferator activated receptor binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0035517 PR-DUB complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045600 positive regulation of fat cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0009887 animal organ morphogenesis;GO:0035360 positive regulation of peroxisome proliferator activated receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q76L83-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7RTU5-1", "uniprot_id": "ASCL5_HUMAN", "mass": 22532.0, "length": 206, "protein_name": "Achaete-scute homolog 5", "gene_name": "ASCL5", "organism": "Human", "refseq_name": "achaete-scute homolog 5", "refseq_ac": "NP_001257530", "gene_names_uniprotkb": "ASCL5; BHLHA47", "gene_names_refseq": "ASCL5; ASH-5; AmeloD; LBDT; bHLHa47", "protein_names_uniprotkb": "Achaete-scute homolog 5; ASH-5; Class A basic helix-loop-helix protein 47; bHLHa47; hASH5", "protein_names_refseq": "achaete-scute complex homolog 5; achaete-scute homolog 5; class A basic helix-loop-helix protein 47", "tax_id": 9606, "disease": "", "pathway": " (hsa:647219)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "14516699", "class_list": "", "function": "Transcription factor. Probably binds E-box motifs 5'-CANNTG-3' in complex with transcription factor TCF3/E12. Negatively modulates transcription of target genes such as CDH1/E-cadherin, perhaps by recruiting the PRC2 repressive complex to regulatory elements. Regulates ameloblast development and tooth germ growth, perhaps acting by positively modulating migration of inner enamel epithelium (IEE) cells. Plays a role in enamel formation., [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": 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": "M0R2M9", "ec_number_list": "", "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0000785 chromatin;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0060429 epithelium development;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0048513 animal organ development", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q7RTU5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86Y30-1", "uniprot_id": "BAGE2_HUMAN", "mass": 12114.0, "length": 109, "protein_name": "B melanoma antigen 2", "gene_name": "BAGE2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "BAGE2", "gene_names_refseq": "", "protein_names_uniprotkb": "B melanoma antigen 2; CT2.2; Cancer/testis antigen 2.2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "12461691;12676563", "class_list": "", "function": "Unknown. Candidate gene encoding tumor antigens., [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": "A8K925;Q08ER0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q86Y30-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N3I7-1", "uniprot_id": "BBS5_HUMAN", "mass": 38755.0, "length": 341, "protein_name": "BBSome complex member BBS5", "gene_name": "BBS5", "organism": "Human", "refseq_name": "BBSome complex member BBS5", "refseq_ac": "NP_689597", "gene_names_uniprotkb": "BBS5", "gene_names_refseq": "BBS5", "protein_names_uniprotkb": "BBSome complex member BBS5; Bardet-Biedl syndrome 5 protein", "protein_names_refseq": "BBSome complex member BBS5; bardet-Biedl syndrome 5 protein", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340); Bardet-Biedl syndrome 5 (Disease Ontology:DOID:0110127); Bardet-Biedl syndrome (Disease Ontology:DOID:1935)", "pathway": " (hsa:129880); (R-HSA-5620922)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "11237011;11252952;15137946;15258860;15314642;16327777;17574030;18203199;19081074;19421068;19575670;20080638;20112406;20233871;20603001;21344540;21427764;22072986;22139371;22389062;22500027;23351793;24296415;24939912;25418920;25443296;25446516;25576301;26811146;26992070;27600516;27920218;28063628;28832583;28904123;29242379;29557506;29632046;29786170;30429286;30779550;30833945;31844290;32157095;32161166;32357974;32387766;32897882;32938616;33144677;33298915;33560420;33572860;33691108;33968037;34171305;34509645;35051231;39894887", "class_list": "", "function": "A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities., [RefSeq, PubMed]; BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Identified BBS5, a novel gene for Bardet-Biedl syndrome; it localizes to basal bodies, is under the regulatory control of daf-19, and is necessary for the generation of both cilia and flagella, [RefSeq, PubMed]; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for BBSome complex ciliary localization but not for the proper complex assembly., [UniProtKB, PubMed, PubMed]; This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully 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": 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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DPC3;Q6PKN0", "ec_number_list": "", "go_molecular_function": "GO:0032266 phosphatidylinositol-3-phosphate binding;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005929 cilium;GO:0005930 axoneme;GO:0034451 centriolar satellite;GO:0036064 ciliary basal body", "go_biological_process": "GO:0015031 protein transport;GO:0007601 visual perception;GO:0060271 cilium assembly;GO:0001947 heart looping;GO:0044458 motile cilium assembly", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q8N3I7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N7W2-4", "uniprot_id": "BEND7_HUMAN", "mass": 46204.0, "length": 413, "protein_name": "BEN domain-containing protein 7", "gene_name": "BEND7", "organism": "Human", "refseq_name": "BEN domain-containing protein 7 isoform 2", "refseq_ac": "NP_001094382", "gene_names_uniprotkb": "BEND7; C10orf30", "gene_names_refseq": "BEND7; C10orf30", "protein_names_uniprotkb": "BEN domain-containing protein 7", "protein_names_refseq": "BEN domain-containing protein 7 isoform 2; BEN domain-containing protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:222389)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "16385451;16959974;20068231;28300201;39894887", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; These results validated the association of two previously known skin pigmentation genes, SLC24A5 (minimum p = 2.62 x 10(-14), rs1426654) and SLC45A2 (minimum p = 9.71 x 10(-10), rs16891982), and revealed the intergenic region of BEND7 and PRPF18 as a novel locus associated with this trait (minimum p = 4.58 x 10(-9), rs6602666). 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": 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": "A0A804HJG9;Q5SYY7;Q5SYY8;Q5SYY9;Q8N5T7", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8N7W2-4", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N888-1", "uniprot_id": "BCOR2_HUMAN", "mass": 16258.0, "length": 145, "protein_name": "Putative BCoR-like protein 2", "gene_name": "BCORP1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "BCORP1; BCORL2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative BCoR-like protein 2; BCL-6 corepressor pseudogene 1; BCL-6 corepressor-like 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": "Q8N888-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96SQ7-1", "uniprot_id": "ATOH8_HUMAN", "mass": 34644.0, "length": 321, "protein_name": "Transcription factor ATOH8", "gene_name": "ATOH8", "organism": "Human", "refseq_name": "transcription factor ATOH8", "refseq_ac": "NP_116216", "gene_names_uniprotkb": "ATOH8; ATH6; BHLHA21", "gene_names_refseq": "ATOH8; HATH6; bHLHa21", "protein_names_uniprotkb": "Transcription factor ATOH8; Class A basic helix-loop-helix protein 21; Helix-loop-helix protein hATH-6; Protein atonal homolog 8; bHLHa21; hATH6", "protein_names_refseq": "atonal homolog 6; atonal homolog bHLH transcription factor 8; basic helix loop helix transcription factor 6; class A basic helix-loop-helix protein 21; helix-loop-helix protein hATH-6; protein atonal homolog 8; transcription factor ATOH8", "tax_id": 9606, "disease": "", "pathway": " (hsa:84913)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "12419857;19913121;20628086;21857980;24236640;24463812;25576301;27846572;30429286;30833945;31844290;31848261;32157095;32897882;32938616;33049034;33546582;33592498;34405274;35051231;35580925;36010968;36215666;36626550;37232357;38060684", "class_list": "", "function": "A novel isoform of ATOH8 promotes the metastasis of breast cancer by regulating RhoC., [RefSeq, PubMed]; ATOH8 Expression Is Regulated by BMP2 and Plays a Key Role in Human Endometrial Stromal Cell Decidualization., [RefSeq, PubMed]; ATOH8 binds SMAD3 to induce cellular senescence and prevent Ras-driven malignant transformation., [RefSeq, PubMed]; ATOH8 promotes HBV immune tolerance by inhibiting the pyroptotic pathway in hepatocytes., [RefSeq, PubMed]; Data show that in ATOH8 was hosted in one chromosome which is a fusion product of two orthologous chromosomes in non-human. primates., [RefSeq, PubMed]; Long non-coding RNA CIR inhibits chondrogenic differentiation of mesenchymal stem cells by epigenetically suppressing ATOH8 via methyltransferase EZH2. Publication Status: Online-Only, [RefSeq, 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]; Transcription factor that binds a palindromic (canonical) core consensus DNA sequence 5'-CANNTG- 3' known as an E-box element, possibly as a heterodimer with other bHLH proteins (PubMed:24236640). Regulates endothelial cell proliferation, migration and tube-like structures formation (PubMed:24463812). Modulates endothelial cell differentiation through NOS3 (PubMed:24463812). May be implicated in specification and differentiation of neuronal cell lineages in the brain (By similarity). May participate in kidney development and may be involved in podocyte differentiation (By similarity). During early embryonic development is involved in tissue-specific differentiation processes that are dependent on class II bHLH factors and namely modulates the differentiation program initiated by the pro-endocrine factor NEUROG3 (By similarity). During myogenesis, may play a role during the transition of myoblasts from the proliferative phase to the differentiation phase (By similarity). Positively regulates HAMP transcription in two ways, firstly by acting directly on the HAMP promoter via E-boxes binding and indirectly through increased phosphorylation of SMAD protein complex (PubMed:24236640). Repress NEUROG3-dependent gene activation in a gene-specific manner through at least two mechanisms; requires only either the sequestering of a general partner such as TCF3 through heterodimerization, either also requires binding of the bHLH domain to DNA via a basic motif (By similarity)., [UniProtKB, 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q504S2;Q659B0", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0046983 protein dimerization activity;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0070888 E-box binding;GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007399 nervous system development;GO:0010629 negative regulation of gene expression;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q96SQ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H3M9-1", "uniprot_id": "ATX3L_HUMAN", "mass": 40747.0, "length": 355, "protein_name": "Ataxin-3-like protein", "gene_name": "ATXN3L", "organism": "Human", "refseq_name": "ataxin-3-like protein isoform 1", "refseq_ac": "NP_001129467", "gene_names_uniprotkb": "ATXN3L; ATX3L; MJDL", "gene_names_refseq": "ATXN3L1; ATXN3L; MJDL", "protein_names_uniprotkb": "Ataxin-3-like protein; 3.4.19.12; Machado-Joseph disease protein 1-like", "protein_names_refseq": "ataxin-3-like protein isoform 1; machado-Joseph disease protein 1-like; putative ataxin-3-like protein", "tax_id": 9606, "disease": "Machado-Joseph disease (Disease Ontology:DOID:1440)", "pathway": " (hsa:92552); (R-HSA-5689877)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "10915768;11450850;17696782;18599482;20940148;21118805;26079537;29557506;31844290;32157095;33968037;35580925", "class_list": "", "function": "ATXN3L has a role in the regulation of KLF5 stability in breast cancer, [RefSeq, PubMed]; Deubiquitinating enzyme that cleaves both 'Lys-48'-linked and 'Lys-63'-linked poly-ubiquitin chains (in vitro) (PubMed:21118805). Acts as a deubiquitinating enzyme for the transcription factor KLF5, playing a role in the regulation of KLF5 stability (PubMed:26079537)., [UniProtKB, PubMed, PubMed]; This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease. [provided by RefSeq, Sep 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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RNY8", "ec_number_list": "3.4.19.12", "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0016579 protein deubiquitination;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:1904294 positive regulation of ERAD pathway;GO:0006515 protein quality control for misfolded or incompletely synthesized proteins", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9H3M9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H7T9-1", "uniprot_id": "AUNIP_HUMAN", "mass": 40253.0, "length": 357, "protein_name": "Aurora kinase A- and ninein-interacting protein", "gene_name": "AUNIP", "organism": "Human", "refseq_name": "aurora kinase A- and ninein-interacting protein isoform 1", "refseq_ac": "NP_001274419", "gene_names_uniprotkb": "AUNIP; C1orf135", "gene_names_refseq": "AIBP; AUNIP; C1orf135", "protein_names_uniprotkb": "Aurora kinase A- and ninein-interacting protein; AIBp", "protein_names_refseq": "aurora A-binding protein; aurora kinase A- and ninein-interacting protein isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79000)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "17525332;20596670;23186163;25418920;26992070;28218747;28832583;29042561;29242379;29437277;29632046;30779550;31409573;31844290;32897882;32938616;33968037;36010968;36241641", "class_list": "", "function": "AIBp may not only be required for the dynamic movement of Aurora-A at the centrosomes and spindle apparatus during the cell cycle, but may also be important during brain tumorigenesis., [RefSeq, PubMed]; AUNIP could serve as a candidate diagnostic and prognostic biomarker for OSCC and suppression of AUNIP may be a potential approach to preventing and treating OSCC., [RefSeq, PubMed]; DNA-binding protein that accumulates at DNA double-strand breaks (DSBs) following DNA damage and promotes DNA resection and homologous recombination (PubMed:29042561). Serves as a sensor of DNA damage: binds DNA with a strong preference for DNA substrates that mimic structures generated at stalled replication forks, and anchors RBBP8/CtIP to DSB sites to promote DNA end resection and ensuing homologous recombination repair (PubMed:29042561). Inhibits non-homologous end joining (NHEJ) (PubMed:29042561). Required for the dynamic movement of AURKA at the centrosomes and spindle apparatus during the cell cycle (PubMed:20596670)., [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": 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": "C9EI59;Q53F70", "ec_number_list": "", "go_molecular_function": "GO:0003684 damaged DNA binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005813 centrosome;GO:0090734 site of DNA damage", "go_biological_process": "GO:0000724 double-strand break repair via homologous recombination;GO:0007051 spindle organization;GO:2001033 negative regulation of double-strand break repair via nonhomologous end joining", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9H7T9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P241-1", "uniprot_id": "AT10D_HUMAN", "mass": 160274.0, "length": 1426, "protein_name": "Phospholipid-transporting ATPase VD", "gene_name": "ATP10D", "organism": "Human", "refseq_name": "phospholipid-transporting ATPase VD", "refseq_ac": "NP_065186", "gene_names_uniprotkb": "ATP10D; ATPVD; KIAA1487", "gene_names_refseq": "ATP10D; ATPVD", "protein_names_uniprotkb": "Phospholipid-transporting ATPase VD; 7.6.2.1; ATPase class V type 10D; P4-ATPase flippase complex alpha subunit ATP10D", "protein_names_refseq": "ATPase, class V, type 10D; P4-ATPase flippase complex alpha subunit ATP10D; phospholipid-transporting ATPase VD; probable phospholipid-transporting ATPase VD; type IV aminophospholipid transporting ATPase", "tax_id": 9606, "disease": "progressive familial intrahepatic cholestasis (Disease Ontology:DOID:0070221)", "pathway": " (hsa:57205); (R-HSA-936837)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10401004;10484781;10615129;10767338;11237011;12532265;15831496;15919184;15925480;16182249;1656976;16700898;18723824;19345671;19878721;20877624;2160952;21914794;22186024;23196729;23481700;24125428;24392018;25502872;25947375;26992070;27067231;27846572;27920218;28218747;28467828;28514659;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29557506;29632046;29769354;29786170;30530492;31154438;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32938616;33298915;33717175;33912179;33968037;34078123;34357683;34932366;35051231;35154160;35413271;35580925;36010968;36241641;37938771;6832622;7626145;8045293;8298639;8490646;8490659;9147644;9307043", "class_list": "", "function": "Catalytic component of a P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of glucosylceramide (GlcCer) from the outer to the inner leaflet of the plasma membrane., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The rs2351791 SNP in the Atp10d gene affects the susceptibility for cardiac and intracranial vascular stenosis in the elderly Japanese population., [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": 16, "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": "A2RRC8;D6REN2;Q8NC70;Q96SR3", "ec_number_list": "7.6.2.1", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0140326 ATPase-coupled intramembrane lipid transporter activity;GO:0140351 glycosylceramide flippase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:1990531 phospholipid-translocating ATPase complex", "go_biological_process": "GO:0034220 monoatomic ion transmembrane transport;GO:0045332 phospholipid translocation;GO:0006812 monoatomic cation transport", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q9P241-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2W7-1", "uniprot_id": "B3GA1_HUMAN", "mass": 38256.0, "length": 334, "protein_name": "Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "gene_name": "B3GAT1", "organism": "Human", "refseq_name": "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform 1", "refseq_ac": "NP_061114", "gene_names_uniprotkb": "B3GAT1; GLCATP", "gene_names_refseq": "B3GAT1; CD57; GLCATP; GLCUATP; HNK1; LEU7; NK-1; NK1", "protein_names_uniprotkb": "Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1; 2.4.1.135; Beta-1,3-glucuronyltransferase 1; GlcAT-P; GlcUAT-P; Glucuronosyltransferase P; UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase", "protein_names_refseq": "LEU7 antigen; UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase; galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform 1; galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1; glucuronosyltransferase P", "tax_id": 9606, "disease": "pulmonary fibrosis (Disease Ontology:DOID:3770)", "pathway": " (hsa:27087); (R-HSA-1971475)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10473568;10506123;10783264;10842173;11099377;11551958;11877387;11986319;12522689;14993226;15294915;15461586;17194707;19473117;19664994;22810237;23656592;24425863;25521717;29741879;32439976;32857789;34115118;37074911;37894820;9506957;9892646", "class_list": "glycogene;glycosyltransferase", "function": "CMV exposure drives long-term CD57+ CD4 memory T-cell inflation following allogeneic stem cell transplant., [RefSeq, PubMed]; Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can also play a role in glycosaminoglycan biosynthesis. Substrates include asialo-orosomucoid (ASOR), asialo-fetuin, and asialo-neural cell adhesion molecule. Requires sphingomyelin for activity: stearoyl-sphingomyelin was the most effective, followed by palmitoyl-sphingomyelin and lignoceroyl-sphingomyelin. Activity was demonstrated only for sphingomyelin with a saturated fatty acid and not for that with an unsaturated fatty acid, regardless of the length of the acyl group., [UniProtKB, UniProtKB]; MED15, transforming growth factor beta 1 (TGF-beta1), FcgammaRIII (CD16), and HNK-1 (CD57) are prognostic biomarkers of oral squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular and Cellular Insights: A Focus on Glycans and the HNK1 Epitope in Autism Spectrum Disorder. Publication Status: Online-Only, [RefSeq, PubMed]; Natural variation in a glucuronosyltransferase modulates propionate sensitivity in a C. elegans propionic acidemia model. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate specificity toward UDP-glucuronic acid determined by two crucial histidine and arginine residues, [RefSeq, PubMed]; The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 413, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B7Z5Z8;Q96FS7", "ec_number_list": "2.4.1.135", "go_molecular_function": "GO:0046872 metal ion binding;GO:0015018 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0006024 glycosaminoglycan biosynthetic process;GO:0050650 chondroitin sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 21, "hit_score": 3.2, "record_id": "Q9P2W7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBB4-1", "uniprot_id": "ATX10_HUMAN", "mass": 53489.0, "length": 475, "protein_name": "Ataxin-10", "gene_name": "ATXN10", "organism": "Human", "refseq_name": "ataxin-10 isoform 2", "refseq_ac": "NP_001161093", "gene_names_uniprotkb": "ATXN10; SCA10", "gene_names_refseq": "ATX10; ATXN10; E46L; HUMEEP; SCA10", "protein_names_uniprotkb": "Ataxin-10; Brain protein E46 homolog; Spinocerebellar ataxia type 10 protein", "protein_names_refseq": "ataxin-10 isoform 2; brain protein E46 homolog; spinocerebellar ataxia type 10 protein", "tax_id": 9606, "disease": "spinocerebellar ataxia 10 (Disease Ontology:DOID:0050960)", "pathway": " (hsa:25814)", "pathway_count": 1, "publication_count": 113, "publication_id_list": "10931946;11017075;11230166;11237011;15201271;16498633;18477386;20058876;20068231;21565611;21857149;21972290;22424782;22544926;23186163;23301498;23481700;24366607;24714562;24715725;25418920;25576301;25645385;25666058;25802875;25892735;26154972;26375851;26728094;26758079;26992070;27600516;27846572;27920218;28218747;28228285;28467828;28510447;28514659;28832583;28834231;28855257;28860189;28904123;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29632711;29786170;29789417;30315122;30410026;30484775;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32870666;32897882;32938616;32983136;33091337;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34561969;34932366;35051231;35138101;35154160;35251023;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38832639;40914422", "class_list": "", "function": "Extended haplotype with rs41524547-G defines the ancestral origin of SCA10., [RefSeq, PubMed]; May play a role in the regulation of cytokinesis (PubMed:21857149, PubMed:25666058). May play a role in signaling by stimulating protein glycosylation. Induces neuritogenesis by activating the Ras-MAP kinase pathway and is necessary for the survival of cerebellar neurons (By similarity). Does not appear to play a major role in ciliogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB]; This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[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": 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": 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": "A6NLC4;B4DG05;O14998;O15009;Q6I9X4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0030425 dendrite", "go_biological_process": "GO:0007399 nervous system development;GO:0031175 neuron projection development;GO:0051301 cell division;GO:0032465 regulation of cytokinesis", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q9UBB4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UMQ3-1", "uniprot_id": "BARX2_HUMAN", "mass": 31188.0, "length": 279, "protein_name": "Homeobox protein BarH-like 2", "gene_name": "BARX2", "organism": "Human", "refseq_name": "homeobox protein BarH-like 2", "refseq_ac": "NP_003649", "gene_names_uniprotkb": "BARX2", "gene_names_refseq": "BARX2", "protein_names_uniprotkb": "Homeobox protein BarH-like 2", "protein_names_refseq": "BarH-like homeobox 2; homeobox protein BarH-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:8538)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10644443;10854790;14744868;17525332;25576301;29331515;29341468;29786170;32236603;33537174;33550149;35037835;35051231;35580925;38253038", "class_list": "", "function": "BARX2 can coordinate the expression of a network of genes that influence the growth of tumor cells, [RefSeq, PubMed]; BARX2 expression is downregulated by CpG island hypermethylation and is associated with suppressed cell proliferation and invasion of gastric cancer cells., [RefSeq, PubMed]; BarH-like homeobox 2 represses the transcription of keratin 16 and affects Ras signaling pathway to suppress nasopharyngeal carcinoma progression., [RefSeq, PubMed]; The miR-187 induced bone reconstruction and healing in a mouse model of osteoporosis, and accelerated osteoblastic differentiation of human multipotent stromal cells by targeting BARX2., [RefSeq, PubMed]; These findings reveal that Barx2 serving as a tumor suppressor gene could decrease cell proliferation, migration, and aerobic glycolysis through inhibiting the Wnt/beta-catenin signaling pathway, and predicts a good prognosis in non-small cell lung carcinoma, [RefSeq, PubMed]; This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor. Binds optimally to the DNA consensus sequence 5'-YYTAATGRTTTTY-3'. May control the expression of neural adhesion molecules such as L1 or Ng-CAM during embryonic development of both the central and peripherical nervous system. May be involved in controlling adhesive processes in keratinizing epithelia (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": 1, "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": "O43518;Q6NT51", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin 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: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:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9UMQ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UQB9-1", "uniprot_id": "AURKC_HUMAN", "mass": 35591.0, "length": 309, "protein_name": "Aurora kinase C", "gene_name": "AURKC", "organism": "Human", "refseq_name": "aurora kinase C isoform 1", "refseq_ac": "NP_001015878", "gene_names_uniprotkb": "AURKC; AIE2; AIK3; AIRK3; ARK3; STK13", "gene_names_refseq": "AIE2; AIK3; ARK3; AURKC; AurC; HEL-S-90; SPGF5; STK13; aurora-C", "protein_names_uniprotkb": "Aurora kinase C; 2.7.11.1; ARK-3; Aurora 3; Aurora-related kinase 3; Aurora/IPL1-related kinase 3; Aurora/IPL1/Eg2 protein 2; Serine/threonine-protein kinase 13; Serine/threonine-protein kinase aurora-C", "protein_names_refseq": "ARK-3; aurora 3; aurora kinase C isoform 1; aurora-related kinase 3; aurora/IPL1-related kinase 3; aurora/IPL1/EG2 protein 2; epididymis secretory protein Li 90; serine/threonine kinase 13 (aurora/IPL1-like); serine/threonine-protein kinase 13; serine/threonine-protein kinase aurora-C", "tax_id": 9606, "disease": "spermatogenic failure 5 (Disease Ontology:DOID:0070183); brain cancer (Disease Ontology:DOID:1319)", "pathway": " (hsa:6795)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10066797;11237011;11879579;15316025;15499654;15670791;15938719;17344846;17435757;18669648;21493633;21531210;21733974;22424782;22544926;24714562;25418920;26154972;26992070;27332895;29557506;29632046;30779550;31222486;31320618;31848261;31937595;32157095;32387766;32502341;32897882;32938616;33141586;33298915;33537174;33936100;33968037;34030642;34171305;34211107;34461108;34465813;34509645;35218477;35561310;36326488;9799611;9809744", "class_list": "", "function": "Aurora kinase genetic polymorphisms: an association study in Down syndrome and spontaneous abortion., [RefSeq, PubMed]; Co-relation with novel phosphorylation sites of IkappaBalpha and necroptosis in breast cancer cells. Erratum:[BMC Cancer. 2021 Nov 11;21(1):1198. doi: 10.1186/s12885-021-08919-w. PMID: 34763661] Publication Status: Online-Only, [RefSeq, PubMed]; Computational study of the potential impact of AURKC missense SNPs on AURKC-INCENP interaction and their correlation to macrozoospermia., [RefSeq, PubMed]; Genetic variations in AURORA cell cycle kinases are associated with glioblastoma multiforme. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine-protein kinase component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Also plays a role in meiosis and more particularly in spermatogenesis. Has redundant cellular functions with AURKB and can rescue an AURKB knockdown. Like AURKB, AURKC phosphorylates histone H3 at 'Ser-10' and 'Ser-28'. AURKC phosphorylates the CPC complex subunits BIRC5/survivin and INCENP leading to increased AURKC activity. Phosphorylates TACC1, another protein involved in cell division, at 'Ser-228'., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The oncogenic role of meiosis-specific Aurora kinase C in mitotic cells., [RefSeq, PubMed]; This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. [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": 3, "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": "O60681;O75442;Q6AZY8;Q6DLZ0;Q9UPK5", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0004712 protein serine/threonine/tyrosine kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005813 centrosome;GO:0005819 spindle;GO:0051233 spindle midzone", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0008608 attachment of spindle microtubules to kinetochore;GO:0051301 cell division;GO:0007052 mitotic spindle organization;GO:0032465 regulation of cytokinesis", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9UQB9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q01151-1", "uniprot_id": "CD83_HUMAN", "mass": 23042.0, "length": 205, "protein_name": "CD83 antigen", "gene_name": "CD83", "organism": "Human", "refseq_name": "CD83 antigen isoform b precursor", "refseq_ac": "NP_001035370", "gene_names_uniprotkb": "CD83", "gene_names_refseq": "BL11; CD83; HB15", "protein_names_uniprotkb": "CD83 antigen; B-cell activation protein; Cell surface protein HB15; hCD83", "protein_names_refseq": "B-cell activation protein; CD83 antigen (activated B lymphocytes, immunoglobulin superfamily); CD83 antigen isoform b precursor; cell surface protein HB15; cell-surface glycoprotein; hCD83", "tax_id": 9606, "disease": "", "pathway": " (hsa:9308)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11922761;1378080;14574404;15340161;15489334;18669648;19349973;21220452;23481700;24190977;24715725;25576301;26154972;27846572;28315353;28832583;29242379;29314611;29393594;29508533;29557506;29632711;31217245;31293592;31844290;31937595;31998317;32296183;32350084;32502341;32529460;32572123;32938616;32983136;33141586;33298915;33455090;34211107;34433824;34831294;35051231;35154160;36003376;36622700;36769151;38162675;7706722;8422464;9310491;9417921", "class_list": "glycogene", "function": "CD83 Regulates the Immune Responses in Inflammatory Disorders. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Human Effectors of Acute and Chronic GVHD Overexpress CD83 and Predict Mortality., [RefSeq, PubMed]; Monocyte Maturation Mediators Upregulate CD83, ICAM-1 and MHC Class 1 Expression on Ewing's Sarcoma, Enhancing T Cell Cytotoxicity. Publication Status: Online-Only, [RefSeq, PubMed]; Soluble CD83 modulates human-monocyte-derived macrophages toward alternative phenotype, function, and metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a single-pass type I membrane protein and member of the immunoglobulin superfamily of receptors. The encoded protein may be involved in the regulation of antigen presentation. A soluble form of this protein can bind to dendritic cells and inhibit their maturation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]; The soluble CD83 protein prevents bone destruction by inhibiting the formation of osteoclasts and inducing resolution of inflammation in arthritis. Publication Status: Online-Only, [RefSeq, PubMed]; Transmembrane glycoprotein predominantly found on the surface of many immune cells including dendritic cells or lymphocytes that plays various roles in immune response regulation. Plays an essential role in CD4(+) T-selection, differentiation and stability by regulating the activity of the major E3 ubiquitin ligase responsible for controlling MHCII trafficking MARCHF8. Also inhibits MARCHF1 association with MHCII or CD86 to prevent their ubiquitination and subsequent degradation (PubMed:21220452). In addition, acts as an important modulator of protective responses against acute infections (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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 310, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5THX9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006952 defense response;GO:0007165 signal transduction;GO:0006959 humoral immune response", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q01151-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NFR6-1", "uniprot_id": "S31J1_HUMAN", "mass": 39250.0, "length": 353, "protein_name": "Protein SPATA31J1", "gene_name": "SPATA31J1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "SPATA31J1; C5orf60", "gene_names_refseq": "", "protein_names_uniprotkb": "Protein SPATA31J1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "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": 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": "A1L488;B7ZM52;B7ZM53", "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": "A6NFR6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NFT4-1", "uniprot_id": "CFA73_HUMAN", "mass": 35914.0, "length": 308, "protein_name": "Cilia- and flagella-associated protein 73", "gene_name": "CFAP73", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 73", "refseq_ac": "NP_001138344", "gene_names_uniprotkb": "CFAP73; CCDC42B", "gene_names_refseq": "CCDC42B; CFAP73; MIA2", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 73; Coiled-coil domain-containing protein 42B", "protein_names_refseq": "cilia- and flagella-associated protein 73; coiled-coil domain containing 42B; coiled-coil domain-containing protein 42B", "tax_id": 9606, "disease": "", "pathway": " (hsa:387885)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;31530632;35051231;35580925;36284347", "class_list": "", "function": "May play a role in ciliary/flagellar motility by regulating the assembly and the activity of axonemal inner dynein arm., [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:0070840 dynein complex binding", "go_cellular_component": "GO:0031514 motile cilium;GO:0097545 axonemal doublet microtubule;GO:0005856 cytoskeleton;GO:0005929 cilium", "go_biological_process": "GO:0003341 cilium movement;GO:0036159 inner dynein arm assembly", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A6NFT4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00311-1", "uniprot_id": "CDC7_HUMAN", "mass": 63888.0, "length": 574, "protein_name": "Cell division cycle 7-related protein kinase", "gene_name": "CDC7", "organism": "Human", "refseq_name": "cell division cycle 7-related protein kinase", "refseq_ac": "NP_001127891", "gene_names_uniprotkb": "CDC7; CDC7L1", "gene_names_refseq": "CDC7L1; CDC7; HsCDC7; Hsk1; huCDC7", "protein_names_uniprotkb": "Cell division cycle 7-related protein kinase; 2.7.11.1; CDC7-related kinase; HsCdc7; huCdc7", "protein_names_refseq": "CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1; CDC7-related kinase; cell division cycle 7 homolog; cell division cycle 7-like protein 1; cell division cycle 7-related protein kinase; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:8317); (R-HSA-176187); (R-HSA-68962); (R-HSA-8953750)", "pathway_count": 4, "publication_count": 141, "publication_id_list": "10051570;10373362;10373557;10518787;10523313;10757793;10777662;10827953;10846177;10859164;10882098;11095689;11125146;11171983;11237011;11390642;12004135;12045100;12065429;12399544;12578958;12676583;12676925;12759351;12791985;12909625;12963847;14500360;14603323;14605214;14624239;15014447;15190204;15226314;15536069;15668232;15707391;15743907;15833913;16327781;16407120;17001316;17062569;17344846;17600109;17697703;18480045;18562691;18691976;19369195;19413330;19664994;19691289;20058876;21596310;22645359;23186163;23481700;23954429;24366607;24397554;24627085;24715725;25231993;25576301;26154972;26375851;26992070;27401717;27543614;27611229;27920218;28218747;28228285;28446606;28514659;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30379171;30429286;30484775;30524438;30779550;31092671;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34171305;34211107;34357683;34509645;34561969;34663432;34932366;35051231;35318648;35398961;35494241;35561310;35580925;36010968;36284347;37497004;37938771;38205514;38865090;7623816;8196638;8943031;9250678;9278511;9278512;9405610;9501179;9573348;9660782;9689056;9704927", "class_list": "", "function": "DBF4 Dependent Kinase Inhibition Suppresses Hepatocellular Carcinoma Progression and Potentiates Anti-Programmed Cell Death-1 Therapy. Publication Status: Online-Only, [RefSeq, PubMed]; DBF4, not DRF1, is the crucial regulator of CDC7 kinase at replication forks., [RefSeq, PubMed]; Druggable cavities and allosteric modulators of the cell division cycle 7 (CDC7) kinase., [RefSeq, PubMed]; Kinase involved in initiation of DNA replication. Phosphorylates critical substrates that regulate the G1/S phase transition and initiation of DNA replication, such as MCM proteins and CLASPIN., [UniProtKB, PubMed, PubMed]; Novel insights into the roles of Cdc7 in response to replication stress. Review article, [RefSeq, PubMed]; Targeting CDC7 potentiates ATR-CHK1 signaling inhibition through induction of DNA replication stress in liver cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cell division cycle protein with kinase activity that is critical for the G1/S transition. The yeast homolog is also essential for initiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protein have been detected. [provided by RefSeq, Aug 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": 10, "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": "D3DT31;O00558;Q5T5U5", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.7.7;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;3.6.4.12;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.7.-;2.7.7.102;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;5.6.2.4;2.7.1.150", "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016301 kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0045171 intercellular bridge;GO:0072686 mitotic spindle", "go_biological_process": "GO:0007165 signal transduction;GO:0008284 positive regulation of cell population proliferation;GO:0010971 positive regulation of G2/M transition of mitotic cell cycle;GO:0051301 cell division;GO:0000082 G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 14.4, "record_id": "O00311-1", "record_type": "protein" }, { "uniprot_canonical_ac": "F2Z3F1-1", "uniprot_id": "CE067_HUMAN", "mass": 14123.0, "length": 127, "protein_name": "Uncharacterized protein C5orf67", "gene_name": "C5orf67", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "C5orf67", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein C5orf67", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "30379171;33592498", "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_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "F2Z3F1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P06127-1", "uniprot_id": "CD5_HUMAN", "mass": 54578.0, "length": 495, "protein_name": "T-cell surface glycoprotein CD5", "gene_name": "CD5", "organism": "Human", "refseq_name": "T-cell surface glycoprotein CD5 isoform 2", "refseq_ac": "NP_001333385", "gene_names_uniprotkb": "CD5; LEU1", "gene_names_refseq": "CD5; LEU1; T1", "protein_names_uniprotkb": "T-cell surface glycoprotein CD5; Lymphocyte antigen T1/Leu-1", "protein_names_refseq": "CD5 antigen (p56-62); T-cell surface glycoprotein CD5 isoform 2; T-cell surface glycoprotein CD5; epididymis secretory sperm binding protein; lymphocyte antigen T1/Leu-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:921)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "10.1101/2023.09.13.557529;10207177;11123317;11237011;11298344;12522270;1384049;1385158;15144186;15998834;1711157;17322294;18339402;19690332;23376399;24190977;27499044;28832583;29242379;29314611;29493099;29632711;3093892;35051231;35332132;35580925;35767366;36002232;37230972;37953373;8740779;9079809;9603468;9834084", "class_list": "", "function": "Balance between the 2 alternative exons 1 might be central to the regulation of membrane CD5 in human B cells, [RefSeq, PubMed]; CD5 Suppresses IL-15-Induced Proliferation of Human Memory CD8(+) T Cells by Inhibiting mTOR Pathways., [RefSeq, PubMed]; CD5: from antiquated T cell marker to immunotherapy's new hope. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of CD5 in salivary gland tumors: an ancillary marker for carcinoma showing thymus-like differentiation (CASTLE) of the major salivary gland., [RefSeq, PubMed]; Gene variation impact on prostate cancer progression: Lymphocyte modulator, activation, and cell adhesion gene variant contribution., [RefSeq, PubMed]; Lymphoid-specific receptor expressed by all T-cells and in a subset of B-cells known as B1a cells. Plays a role in the regulation of TCR and BCR signaling, thymocyte selection, T-cell effector differentiation and immune tolerance. Acts by interacting with several ligands expressed on B-cells such as CD5L or CD72 and thereby plays an important role in contact-mediated, T-dependent B-cell activation and in the maintenance of regulatory T and B-cell homeostasis. Functions as a negative regulator of TCR signaling during thymocyte development by associating with several signaling proteins including LCK, CD3Z chain, PI3K or CBL (PubMed:1384049, PubMed:1385158). Mechanistically, co-engagement of CD3 with CD5 enhances phosphorylated CBL recruitment leading to increased VAV1 phosphorylation and degradation (PubMed:23376399). Modulates B-cell biology through ERK1/2 activation in a Ca(2+)-dependent pathway via the non-selective Ca(2+) channel TRPC1, leading to IL-10 production (PubMed:27499044)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; T cells expressing CD5/CD7 bispecific chimeric antigen receptors with fully human heavy-chain-only domains mitigate tumor antigen escape. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system. This protein is a type-I transmembrane glycoprotein found on the surface of thymocytes, T lymphocytes and a subset of B lymphocytes. The encoded protein contains three SRCR domains and may act as a receptor to regulate T-cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 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": 1, "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": 3, "reported_phosphosites": 21, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A0N0P4;A8K9I3", "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:0016020 membrane", "go_biological_process": "GO:0031295 T cell costimulation;GO:0008037 cell recognition;GO:0050859 negative regulation of B cell receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "P06127-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16581-1", "uniprot_id": "C3AR_HUMAN", "mass": 53864.0, "length": 482, "protein_name": "C3a anaphylatoxin chemotactic receptor", "gene_name": "C3AR1", "organism": "Human", "refseq_name": "C3a anaphylatoxin chemotactic receptor", "refseq_ac": "NP_001313404", "gene_names_uniprotkb": "C3AR1; AZ3B; C3R1; HNFAG09", "gene_names_refseq": "AZ3B; C3AR1; C3AR; HNFAG09", "protein_names_uniprotkb": "C3a anaphylatoxin chemotactic receptor; C3AR; C3a-R", "protein_names_refseq": "C3a anaphylatoxin chemotactic receptor; complement component 3 receptor 1; complement component 3a receptor 1", "tax_id": 9606, "disease": "adult respiratory distress syndrome (Disease Ontology:DOID:11394); asthma (Disease Ontology:DOID:2841); rhinitis (Disease Ontology:DOID:4483); lung disease (Disease Ontology:DOID:850)", "pathway": " (hsa:719); (R-HSA-375276); (R-HSA-418594); (R-HSA-6798695); (R-HSA-9660826); (R-HSA-977606)", "pathway_count": 6, "publication_count": 190, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10508278;10531307;10604470;1067618;10854085;10899166;11007482;11237011;11313357;11322507;11385580;11457843;11562423;11564766;11683476;11694537;11773063;11939578;12055245;12120503;12427552;12540846;12719537;1280419;12871936;12956774;1314587;1317848;1325670;1337145;1346068;1386357;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;16079145;16192651;1655761;16634148;16923326;16999828;1710450;1710578;17182573;1719979;1722333;17505110;18127230;18434541;1847994;18577758;21788512;21799898;22802338;23077507;23234360;23446738;23487775;23650620;23690594;23817414;23878142;2420889;2465906;2466593;2481448;24906252;2534964;26116704;2649896;26992070;2748346;27496565;27920218;2834384;28832583;29242379;293688;293746;29557506;2956252;2971659;29786170;301546;30429286;30459171;31154438;31848261;3202875;32983136;3366244;33968037;35051231;3525564;35580925;36284347;37169960;37852260;37909169;37938771;38175886;38227377;3848661;3856870;39218048;4098172;6214588;6219696;6222381;6230668;6238120;6274691;6281660;6334079;6373251;6454142;6589611;6607952;670886;6906228;702059;7057924;7391570;7524088;7542572;7590751;7592910;7592911;760802;761607;7624359;7690834;7691959;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8345200;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8495193;8503909;8605247;8615752;8666380;8692836;8702752;873923;8765043;8786315;8823230;9038722;9171878;9510199;9521323;9530155;9593744;9607765;9685625;9722565;978134;9792798;9832121;9851594", "class_list": "", "function": "C3a is an anaphylatoxin released during activation of the complement system. The protein encoded by this gene is an orphan G protein-coupled receptor for C3a. Binding of C3a by the encoded receptor activates chemotaxis, granule enzyme release, superoxide anion production, and bacterial opsonization. [provided by RefSeq, May 2016]., [RefSeq]; C3aR-initiated signaling is a critical mechanism of podocyte injury in membranous nephropathy. Publication Status: Online-Only, [RefSeq, PubMed]; Complement 3a induces the synapse loss via C3aR in mitochondria-dependent NLRP3 activating mechanisms during the development and progression of Alzheimer's disease. Review article, [RefSeq, PubMed]; Deficiency of Complement C3a and C5a receptors Does Not Prevent Angiotensin II-Induced Hypertension and Hypertensive End-Organ Damage., [RefSeq, PubMed]; Receptor for the chemotactic and inflammatory peptide anaphylatoxin C3a, stimulating chemotaxis, granule enzyme release and superoxide anion production. 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. C3AR1 is coupled to G(i)/G(o) (GNAI1 or GNAO1) G alpha proteins and mediates inhibition of adenylate cyclase., [UniProtKB, UniProtKB, UniProtKB, 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": 1, "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": 0, "reported_phosphosites": 9, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O43771;Q92868", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004876 complement component C3a receptor activity;GO:0004878 complement component C5a receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0035577 azurophil granule membrane", "go_biological_process": "GO:0002430 complement receptor mediated signaling pathway;GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 19.6, "record_id": "Q16581-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P36222-1", "uniprot_id": "CH3L1_HUMAN", "mass": 42625.0, "length": 383, "protein_name": "Chitinase-3-like protein 1", "gene_name": "CHI3L1", "organism": "Human", "refseq_name": "chitinase-3-like protein 1 precursor", "refseq_ac": "NP_001267", "gene_names_uniprotkb": "CHI3L1", "gene_names_refseq": "ASRT7; CGP-39; CHI3L1; GP-39; GP39; HC-gp39; HCGP-3P; YK-40; YKL-40; YKL40; YYL-40; hCGP-39", "protein_names_uniprotkb": "Chitinase-3-like protein 1; 39 kDa synovial protein; CGP-39; Cartilage glycoprotein 39; GP-39; YKL-40; hCGP-39", "protein_names_refseq": "39 kDa synovial protein; cartilage glycoprotein 39; chitinase 3-like 1 (cartilage glycoprotein-39); chitinase-3-like protein 1 precursor; chitinase-3-like protein 1", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); small cell carcinoma (Disease Ontology:DOID:0050685); colorectal carcinoma (Disease Ontology:DOID:0080199); prostate carcinoma (Disease Ontology:DOID:10286); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); temporal arteritis (Disease Ontology:DOID:13375); pulmonary sarcoidosis (Disease Ontology:DOID:13406); endometrial cancer (Disease Ontology:DOID:1380); breast cancer (Disease Ontology:DOID:1612); melanoma (Disease Ontology:DOID:1909); arteriosclerosis (Disease Ontology:DOID:2349); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); ovarian cancer (Disease Ontology:DOID:2394); asthma (Disease Ontology:DOID:2841); glioblastoma (Disease Ontology:DOID:3068); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); chondrosarcoma (Disease Ontology:DOID:3371); coronary artery disease (Disease Ontology:DOID:3393); pulmonary fibrosis (Disease Ontology:DOID:3770); lung non-small cell carcinoma (Disease Ontology:DOID:3908); systemic scleroderma (Disease Ontology:DOID:418); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); rheumatoid arthritis (Disease Ontology:DOID:7148); neuromyelitis optica (Disease Ontology:DOID:8869); acute myeloid leukemia (Disease Ontology:DOID:9119); type 2 diabetes mellitus (Disease Ontology:DOID:9352); bacterial meningitis (Disease Ontology:DOID:9470); multiple myeloma (Disease Ontology:DOID:9538); type 1 diabetes mellitus (Disease Ontology:DOID:9744); asthma-related traits, susceptibility to, 7 (MONDO:MONDO:0012771)", "pathway": " (hsa:1116); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "11123274;11136874;11237011;12021103;12435396;12731068;12759455;12775711;12851408;12905493;14702039;15489334;15934080;16341674;16472595;16502470;17160890;17469112;17599744;17645792;18403759;19414556;20051317;20558631;21081667;22211103;23650620;2375755;24715725;26992070;27452731;27543614;28649674;28904123;29331515;29557506;29728799;29786170;29789417;31154438;31810965;31844290;32038607;32162865;32350084;32387766;32613636;32938616;32983136;33392160;33592498;33828170;34395626;34509645;35051231;35580925;38667293;38733586;38900045;39291933;39408927;8245017;8692836;8702629;9182922;9244440;9492324", "class_list": "glycogene;glycosylhydrolase", "function": "Astrocyte-derived CHI3L1 signaling impairs neurogenesis and cognition in the demyelinated hippocampus., [RefSeq, PubMed]; Carbohydrate-binding lectin with a preference for chitin. Has no chitinase activity. May play a role in tissue remodeling and in the capacity of cells to respond to and cope with changes in their environment. Plays a role in T-helper cell type 2 (Th2) inflammatory response and IL-13-induced inflammation, regulating allergen sensitization, inflammatory cell apoptosis, dendritic cell accumulation and M2 macrophage differentiation. Facilitates invasion of pathogenic enteric bacteria into colonic mucosa and lymphoid organs. Mediates activation of AKT1 signaling pathway and subsequent IL8 production in colonic epithelial cells. Regulates antibacterial responses in lung by contributing to macrophage bacterial killing, controlling bacterial dissemination and augmenting host tolerance. Also regulates hyperoxia-induced injury, inflammation and epithelial apoptosis in lung., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Chitinase 3-like-1 Inhibits Innate Antitumor and Tissue Remodeling Immune Responses by Regulating CD47-SIRPalpha- and CD24-Siglec10-Mediated Phagocytosis., [RefSeq, PubMed]; Chitinases catalyze the hydrolysis of chitin, which is an abundant glycopolymer found in insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 family of chitinases includes eight human family members. This gene encodes a glycoprotein member of the glycosyl hydrolase 18 family. The protein lacks chitinase activity and is secreted by activated macrophages, chondrocytes, neutrophils and synovial cells. The protein is thought to play a role in the process of inflammation and tissue remodeling. [provided by RefSeq, Sep 2009]., [RefSeq]; Recently Updated Role of Chitinase 3-like 1 on Various Cell Types as a Major Influencer of Chronic Inflammation. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Serum YKL-40 and Serum Krebs von den Lungen-6 as Potential Predictive Biomarkers for Rheumatoid Arthritis-Associated Interstitial Lung Disease., [RefSeq, PubMed]; YKL40/Integrin beta4 Axis Induced by the Interaction between Cancer Cells and Tumor-Associated Macrophages Is Involved in the Progression of High-Grade Serous Ovarian 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": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 533, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic; prognostic", "glycan_count": 2, "disease_count": 34, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R7B0;P30923;Q8IVA4;Q96HI7", "ec_number_list": "", "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0005201 extracellular matrix structural constituent;GO:0008061 chitin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006954 inflammatory response;GO:0034612 response to tumor necrosis factor;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "P36222-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15078-1", "uniprot_id": "CD5R1_HUMAN", "mass": 34060.0, "length": 307, "protein_name": "Cyclin-dependent kinase 5 activator 1", "gene_name": "CDK5R1", "organism": "Human", "refseq_name": "cyclin-dependent kinase 5 activator 1", "refseq_ac": "NP_003876", "gene_names_uniprotkb": "CDK5R1; CDK5R; NCK5A", "gene_names_refseq": "CDK5P35; CDK5R1; CDK5R; NCK5A; p23; p25; p35nck5a; p35", "protein_names_uniprotkb": "Cyclin-dependent kinase 5 activator 1; CDK5 activator 1; Cyclin-dependent kinase 5 regulatory subunit 1; TPKII regulatory subunit; Tau protein kinase II 23 kDa subunit; p23", "protein_names_refseq": "CDK5 activator 1; TPKII regulatory subunit; cyclin-dependent kinase 5 activator 1; neuronal CDK5 activator; regulatory partner for CDK5 kinase; tau protein kinase II 23kDa subunit", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); Alzheimer's disease (Disease Ontology:DOID:10652); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); trigeminal neuralgia (Disease Ontology:DOID:12098); neurodegenerative disease (Disease Ontology:DOID:1289); hypothyroidism (Disease Ontology:DOID:1459); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:8851); (R-HSA-399956); (R-HSA-6804756); (R-HSA-8862803); (R-HSA-9031628); (R-HSA-9032845); (R-HSA-9768919)", "pathway_count": 7, "publication_count": 226, "publication_id_list": "10203854;10381005;10435622;10500146;10570149;10604467;10611221;10611312;10639123;10656257;10673500;10673501;10710310;10734128;10826704;10830966;10872467;10882540;10884347;10984481;11018254;11027551;11237011;11239457;11280768;11331872;11343657;11447225;11511362;11546806;11551930;11567222;11740489;11755530;11780126;11840323;11853546;11956230;12064478;12093729;12372285;12393264;12393879;12399542;12511643;12702766;12851404;12914926;1377233;14522948;14597720;14685275;14701734;14702041;14969744;15053879;15102911;15128856;15161978;15449318;15542842;15590058;15620361;15652488;15676027;15689152;1570299;15733869;15836632;15866171;15880109;16034366;16039528;16136673;16187211;16221685;16260776;16287845;16322561;16339507;16407550;16484497;16574654;16732277;17088210;17088211;17088212;17108107;17121855;17349958;17591690;17607942;17607944;17632064;17671990;17898216;18056528;18088355;18160048;18326489;1833716;18456662;18490454;18507738;18524893;1861162;18691386;19061646;19116276;19121998;19193899;19194657;19926875;19965374;19965871;2017159;20213681;2040600;20506119;2052361;2072895;20959462;20977903;21057636;2109185;21317932;21326363;21368041;21486943;21621608;22053691;22065583;22302795;2237820;22899714;23000554;23485397;23676219;24060757;24145406;24235147;24291638;24366607;24465693;24561619;24715725;24874608;25248477;25569790;25645385;25748042;26018600;2676516;26992070;27041596;27128622;27220739;27472814;27846572;28076410;28218747;28275114;28286024;28904123;29242379;29437277;29557506;29559111;29632046;30315122;30379171;30718749;3127059;31530632;31844290;32265295;32488085;33141586;33298915;33346796;33398168;33398170;33912179;34357683;35051231;36010968;3672127;37899376;7551568;7592934;7595538;7608156;7624335;7698360;7777577;7823924;7857651;7871435;7876254;7923378;8090221;8090222;8248782;8413279;8483478;8576248;8583621;8668170;8756618;8846918;8918830;9010203;9032251;9084409;9228946;9343422;9390517;9418898;9622090;9722618;9770464;9774344;9808461;9822744;9858769;9925639", "class_list": "", "function": "Elevated CDK5R1 predicts worse prognosis in hepatocellular carcinoma based on TCGA data., [RefSeq, PubMed]; Performed functional studies in mouse., [RefSeq, PubMed]; The Cyclin-Dependent Kinase 5 Inhibitor Peptide Inhibits Herpes Simplex Virus Type 1 Replication. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage of p35 into p25 results in relocalization of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons of patients with Alzheimer's disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms of the microtubule-associated protein tau, which contributes to Alzheimer's disease. [provided by RefSeq, Jul 2008]., [RefSeq]; Tumor-suppressive microRNA-152 inhibits the proliferation of Ewing's sarcoma cells by targeting CDK5R1. Publication Status: Online-Only, [RefSeq, PubMed]; p35 is a neuron specific activator of CDK5. The complex p35/CDK5 is required for neurite outgrowth and cortical lamination. Involved in dendritic spine morphogenesis by mediating the EFNA1-EPHA4 signaling. Activator of TPKII. The complex p35/CDK5 participates in the regulation of the circadian clock by modulating the function of CLOCK protein: phosphorylates CLOCK at 'Thr-451' and 'Thr-461' and regulates the transcriptional activity of the CLOCK-BMAL1 heterodimer in association with altered stability and subcellular distribution., [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": 7, "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": "E1P664;Q5U0G3", "ec_number_list": "", "go_molecular_function": "GO:0002020 protease binding;GO:0004672 protein kinase activity;GO:0019901 protein kinase binding;GO:0051015 actin filament binding;GO:0030295 protein kinase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0021799 cerebral cortex radially oriented cell migration;GO:0007213 G protein-coupled acetylcholine receptor signaling pathway;GO:0031175 neuron projection development;GO:0032956 regulation of actin cytoskeleton organization;GO:0035235 ionotropic glutamate receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 22.9, "record_id": "Q15078-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P48052-1", "uniprot_id": "CBPA2_HUMAN", "mass": 47030.0, "length": 419, "protein_name": "Carboxypeptidase A2", "gene_name": "CPA2", "organism": "Human", "refseq_name": "carboxypeptidase A2 precursor", "refseq_ac": "NP_001860", "gene_names_uniprotkb": "CPA2", "gene_names_refseq": "CPA2", "protein_names_uniprotkb": "Carboxypeptidase A2; 3.4.17.15", "protein_names_refseq": "carboxypeptidase A2 (pancreatic); carboxypeptidase A2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:1358); (R-HSA-9925561)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10742178;11237011;12538893;12948494;20385563;21098023;26115097;26316592;27358403;2920728;29557506;30484775;34357683;34509645;35051231;35154160;7896805;8318831;8806703;9384570;9450539", "class_list": "", "function": "CPMG RD data analysis thus allowed a detailed structural characterization of the ADA2h denatured state under folding conditions not previously achieved for this protein., [RefSeq, PubMed]; Carboxypeptidase that catalyzes the release of a C-terminal amino acid, with a preference for large aromatic C-terminal residues., [UniProtKB, PubMed]; Chymotrypsin C is a co-activator of human pancreatic procarboxypeptidases A1 and A2., [RefSeq, PubMed]; Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2., [RefSeq, PubMed]; This study showed that CPA2 and CPB1 variants are not associated with chronic pancreatitis., [RefSeq, PubMed]; Three different forms of human pancreatic procarboxypeptidase A have been isolated. The encoded protein represents the A2 form, which is a monomeric protein with different biochemical properties from the A1 and A3 forms. The A2 form of pancreatic procarboxypeptidase acts on aromatic C-terminal residues and is a secreted protein. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A4D1M4;C9JIK1;Q53XS1;Q96A12;Q96QN3;Q9UCF1", "ec_number_list": "3.1.1.4;3.2.1.1;3.4.21.35;3.4.21.4;4.6.1.18;3.4.21.71;3.4.21.70;3.4.17.1;3.4.17.2;3.1.1.3;3.1.1.13;3.1.1.6;3.4.21.-;3.4.17.15;3.1.1.26;5.3.4.1;2.1.1.20;3.4.21.2", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004180 carboxypeptidase activity;GO:0004181 metallocarboxypeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005773 vacuole", "go_biological_process": "GO:0006508 proteolysis;GO:0007039 protein catabolic process in the vacuole", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "P48052-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P21854-1", "uniprot_id": "CD72_HUMAN", "mass": 40220.0, "length": 359, "protein_name": "B-cell differentiation antigen CD72", "gene_name": "CD72", "organism": "Human", "refseq_name": "B-cell differentiation antigen CD72", "refseq_ac": "NP_001773", "gene_names_uniprotkb": "CD72", "gene_names_refseq": "CD72b; CD72; LYB2", "protein_names_uniprotkb": "B-cell differentiation antigen CD72; Lyb-2", "protein_names_refseq": "B-cell differentiation antigen CD72; CD72 antigen; lyb-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:971); (R-HSA-416700)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10520995;10648410;11114375;11237011;12882840;15218527;15550623;16715077;17318185;18452278;2141045;24190977;25880248;26375851;26992070;29437277;29557506;31844290;32350084;32357974;32502341;32897882;32983136;33091337;33912179;33936100;34357683;34932366;35051231;35154160;35251023;35580925;36326455;36470209;37074911;37876342;37980541;8955171;9590210", "class_list": "glycogene", "function": "Blockage of CD72 reduces B cell proliferation in immune thrombocytopenic purpura, involving interleukin 1 and macrophage migration inhibitory factor secretion., [RefSeq, PubMed]; CD72 is a pan-tumor antigen associated to pediatric acute leukemia., [RefSeq, PubMed]; CD72, a new immune checkpoint molecule, is a novel prognostic biomarker for kidney renal clear cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; CD72-semaphorin3A axis: A new regulatory pathway in systemic lupus erythematosus., [RefSeq, PubMed]; Co-receptor of B cell receptor (BCR) that plays both positive and negative roles on B-cell functions. Recognizes the Sm/ribonucleoprotein (RNP) self-antigen ligand, and coligation of CD72 and BCR inhibits BCR signaling. Mechanistically, ligand binding leads to the recruitment of PTPN6/SHP-1 to the BCR complex which is inhibitory to BCR signaling. Also acts as a ligand for CD5 and thereby plays a critical role in maintaining regulatory T and B-cell homeostasis., [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": 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 415, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005102 signaling receptor binding;GO:0030246 carbohydrate binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0050859 negative regulation of B cell receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "P21854-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P47902-1", "uniprot_id": "CDX1_HUMAN", "mass": 28138.0, "length": 265, "protein_name": "Homeobox protein CDX-1", "gene_name": "CDX1", "organism": "Human", "refseq_name": "homeobox protein CDX-1", "refseq_ac": "NP_001795", "gene_names_uniprotkb": "CDX1", "gene_names_refseq": "CDX1", "protein_names_uniprotkb": "Homeobox protein CDX-1; Caudal-type homeobox protein 1", "protein_names_refseq": "caudal type homeo box transcription factor 1; caudal type homeobox transcription factor 1; caudal-type homeobox protein 1; caudal-type homeobox protein CDX1; homeobox protein CDX-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:1044)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11846061;12124393;12970739;24623306;24715725;25576301;28473536;28832583;29242379;30379171;30486614;30685841;30909444;31841177;35051231;35494241;36848481;8530027;9036867", "class_list": "", "function": "CDX1 is downregulated after promoter methylation in colorectal tumor cell lines, [RefSeq, PubMed]; High CDX1 expression is associated with esophageal adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Increased CDX1 mRNA expression is associated with chronic atrophic gastritis, [RefSeq, PubMed]; LncRNA FOXD2-AS1 accelerates the progression of cervical cancer via downregulating CDX1., [RefSeq, PubMed]; Low CDX1 expression is correlated with Gastric Adenocarcinoma., [RefSeq, PubMed]; Plays a role in transcriptional regulation (PubMed:24623306). Involved in activated KRAS-mediated transcriptional activation of PRKD1 in colorectal cancer (CRC) cells (PubMed:24623306). Binds to the PRKD1 promoter in colorectal cancer (CRC) cells (PubMed:24623306). Could play a role in the terminal differentiation of the intestine. Binds preferentially to methylated DNA (PubMed:28473536)., [UniProtKB, PubMed, PubMed]; The effect of miR-372-5p regulation on CDX1 and CDX2 in the gastric cancer cell line. Publication Status: Online-Only, [RefSeq, PubMed]; These data highlight a possible role of CDX1 in altering the N-glycosylation of colorectal cancer cells, which is a hallmark of tumor development. Publication Status: Online-Only, [RefSeq, PubMed]; These data show that Cdx1 exhibits a complex pattern during colorectal cancer progression, a high level of expression in polyps, and in one-third of the specimens, suggest that this gene may be a factor in the process toward malignant transformation, [RefSeq, PubMed]; This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded DNA-binding protein regulates intestine-specific gene expression and enterocyte differentiation. It has been shown to induce expression of the intestinal alkaline phosphatase gene, and inhibit beta-catenin/T-cell factor transcriptional activity. [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": 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": 5, "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": "Q4VAU4;Q9NYK8", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;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:0000785 chromatin", "go_biological_process": "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;GO:0009887 animal organ morphogenesis", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "P47902-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16878-1", "uniprot_id": "CDO1_HUMAN", "mass": 22972.0, "length": 200, "protein_name": "Cysteine dioxygenase type 1", "gene_name": "CDO1", "organism": "Human", "refseq_name": "cysteine dioxygenase type 1 isoform 1", "refseq_ac": "NP_001310494", "gene_names_uniprotkb": "CDO1", "gene_names_refseq": "CDO-I; CDO1", "protein_names_uniprotkb": "Cysteine dioxygenase type 1; 1.13.11.20; CDO-I; CDO; Cysteine dioxygenase type I", "protein_names_refseq": "cysteine dioxygenase type 1 isoform 1; cysteine dioxygenase, type I", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:1036); (R-HSA-1614558)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10212249;10427686;12871026;15302935;16195549;16959974;17135237;17581819;18872649;19261609;19625201;22718265;23038267;23413359;236774;23698001;26327310;26437775;27484215;28412453;29055825;29372909;29557506;30429286;31154438;31844290;32156684;35580925;38308276;38614226;39159808;39192790;40963025;7524679;9070219;9497919;9537447", "class_list": "", "function": "DNMT3L inhibits hepatocellular carcinoma progression through DNA methylation of CDO1: insights from big data to basic research. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA FAM83H-AS1 inhibits ferroptosis of endometrial cancer by promoting DNMT1-mediated CDO1 promoter hypermethylation., [RefSeq, PubMed]; Rate-limiting enzyme of the cysteine catabolic process to taurine, which catalyzes the oxidation of cysteine to cysteine sulfinic acid with addition of molecular dioxygen., [UniProtKB, PubMed]; TRIM47-CDO1 axis dictates hepatocellular carcinoma progression by modulating ferroptotic cell death through the ubiquitin-proteasome system., [RefSeq, PubMed]; [Molecular mechanism of CDO1 regulating common metabolic diseases]. 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": 1, "reported_mutagensis": 7, "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": "B2RAK4;P78513;Q6FHZ8;Q8TB64", "ec_number_list": "1.13.11.20", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0008198 ferrous iron binding;GO:0016151 nickel cation binding;GO:0017172 cysteine dioxygenase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006954 inflammatory response;GO:0045471 response to ethanol;GO:0051384 response to glucocorticoid;GO:0007595 lactation;GO:0051591 response to cAMP", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q16878-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q1T7F1-1", "uniprot_id": "CCB42_HUMAN", "mass": 8815.0, "length": 81, "protein_name": "Putative chemokine-related protein B42", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative chemokine-related protein B42", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "22586462", "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:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q1T7F1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q49MI3-1", "uniprot_id": "CERKL_HUMAN", "mass": 62622.0, "length": 558, "protein_name": "Ceramide kinase-like protein", "gene_name": "CERKL", "organism": "Human", "refseq_name": "ceramide kinase-like protein isoform 2", "refseq_ac": "NP_001025482", "gene_names_uniprotkb": "CERKL", "gene_names_refseq": "CERKL; RP26", "protein_names_uniprotkb": "Ceramide kinase-like protein", "protein_names_refseq": "ceramide kinase like; ceramide kinase-like protein isoform 2", "tax_id": 9606, "disease": "retinitis pigmentosa 26 (Disease Ontology:DOID:0110368); retinitis pigmentosa (Disease Ontology:DOID:10584)", "pathway": " (hsa:375298)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;14681825;15708351;18978954;19158957;19501188;29557506;33322828;35051231;36215666;37331655", "class_list": "", "function": "CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History., [RefSeq, PubMed]; Data suggest a functional link between CERKL, a new ceramide kinase homolog, and its nucleolar localization., [RefSeq, PubMed]; Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL. Publication Status: Online-Only, [RefSeq, PubMed]; Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions., [UniProtKB, PubMed, PubMed]; Novel mutation in CERKL which encompassed 13 exons is identified in retinitis pigmentosa, [RefSeq, PubMed]; This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[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": 2, "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": "B2RPL2;B4DEY1;Q49MH9;Q49MI0;Q49MI1;Q49MI2;Q5DVJ2;Q5DVJ4;Q5DVJ5;Q6UZF6;Q6ZP59", "ec_number_list": "", "go_molecular_function": "GO:0001727 lipid kinase activity;GO:0046625 sphingolipid binding;GO:0016301 kinase activity", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0006665 sphingolipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q49MI3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5JTW2-1", "uniprot_id": "CEP78_HUMAN", "mass": 76396.0, "length": 689, "protein_name": "Centrosomal protein of 78 kDa", "gene_name": "CEP78", "organism": "Human", "refseq_name": "centrosomal protein of 78 kDa isoform a", "refseq_ac": "NP_001092272", "gene_names_uniprotkb": "CEP78; C9orf81", "gene_names_refseq": "C9orf81; CEP78; CRDHL; IP63", "protein_names_uniprotkb": "Centrosomal protein of 78 kDa; Cep78", "protein_names_refseq": "centrosomal protein 78kDa; centrosomal protein of 78 kDa isoform a; centrosomal protein of 78 kDa", "tax_id": 9606, "disease": "cone-rod dystrophy and hearing loss 1 (MONDO:MONDO:0020778)", "pathway": " (hsa:84131); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 129, "publication_id_list": "11076968;11237011;11956313;12207013;12221128;12364337;12852856;13678582;14580337;14654843;15498487;15705883;16357211;16462731;16890155;17574030;17646400;17719545;18037885;18378770;18477460;18521620;18566290;18615013;18694559;18801063;19004860;19081074;19940019;20230748;20308558;20399632;20558667;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;22094468;22179047;22365832;22433857;22641346;22653444;23141531;23141541;23186163;23253480;23348840;23400999;23481700;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24469809;24714562;24982133;25047611;25313408;25532896;25576301;26024233;26728094;26992070;27246242;27357513;27588451;27588452;27627988;27920218;28063628;28228285;28242748;28832583;28834231;28904123;29242379;29351928;29393594;29493099;29508533;29557506;29632046;29930882;30429286;30620550;30833945;31217245;31844290;31848261;31999394;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33402344;33592498;33912179;33936100;33968037;33968938;33981976;34171305;34223797;34259627;34509645;34561969;35051231;35132862;35240912;35254053;35580925;36010968;36206347;36241641;7769006;7790358;8838651", "class_list": "", "function": "A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes. Review article, [RefSeq, PubMed]; CEP78 functions as a tumor suppressor in colorectal cancer and low CEP78 expression leads to shorter survival in colorectal cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels. Publication Status: Online-Only, [RefSeq, PubMed]; Centriole wall protein that localizes to mature centrioles and regulates centriole and cilia biogenesis (PubMed:27246242, PubMed:27588451, PubMed:28242748, PubMed:34259627). Involved in centrosome duplication: required for efficient PLK4 centrosomal localization and PLK4-induced overduplication of centrioles (PubMed:27246242). Involved in cilium biogenesis and controls cilium length (PubMed:27588451). Acts as a regulator of protein stability by preventing ubiquitination of centrosomal proteins, such as CCP110 and tektins (PubMed:28242748, PubMed:34259627). Associates with the EDVP complex, preventing ubiquitination and degradation of CCP110 (PubMed:28242748, PubMed:34259627). Promotes deubiquitination of tektin proteins (TEKT1, TEKT2, TEK3, TEKT4 and TEKT5) via its interaction with USP16 (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Data strongly suggest that mutations in CEP78 cause a previously undescribed clinical entity of a ciliary nature characterized by blindness and deafness but clearly distinct from Usher syndrome, a condition for which visual impairment is due to retinitis pigmentosa, [RefSeq, PubMed]; Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome., [RefSeq, PubMed]; Loss-of-function mutations in CEP78 cause male infertility in humans and mice., [RefSeq, PubMed]; The interaction between Cep78 and the N-terminal catalytic domain of Plk4 is a new and important element in the centrosome overduplication process., [RefSeq, PubMed]; This gene encodes a centrosomal protein that is both required for the regulation of centrosome-related events during the cell cycle, and required for ciliogenesis. The encoded protein has an N-terminal leucine-rich repeat (LRR) domain with six consecutive LRR repeats, and a C-terminal coiled-coil domain. It interacts with the N-terminal catalytic domain of polo-like kinase 4 (PLK4) and colocalizes with PLK4 to the distal end of the centriole. Naturally occurring mutations in this gene cause defects in primary cilia that result in retinal degeneration and sensorineural hearing loss which are associated with cone-rod degeneration disease as well as Usher syndrome. Low expression of this gene is associated with poor prognosis of colorectal cancer patients. [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": 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": 2, "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": "A1A4S8;E9PHX5;Q5BJE3;Q5JTW0;Q5JTW1;Q9H9N3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005814 centriole;GO:0036064 ciliary basal body", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0031397 negative regulation of protein ubiquitination;GO:0061512 protein localization to cilium;GO:0071539 protein localization to centrosome;GO:0044782 cilium organization", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "Q5JTW2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T3Y7-1", "uniprot_id": "BVAS1_HUMAN", "mass": 11178.0, "length": 98, "protein_name": "Putative uncharacterized protein POPDC1-AS1", "gene_name": "POPDC1-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "POPDC1-AS1; C6orf112", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein POPDC1-AS1; BVES antisense RNA 1; BVES antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "26375851;33592498", "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": "Q5T552", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q5T3Y7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5XUX0-1", "uniprot_id": "FBX31_HUMAN", "mass": 60664.0, "length": 539, "protein_name": "F-box only protein 31", "gene_name": "FBXO31", "organism": "Human", "refseq_name": "F-box only protein 31 isoform 2", "refseq_ac": "NP_001269612", "gene_names_uniprotkb": "FBXO31; FBX14; FBX31; PP2386", "gene_names_refseq": "FBX14; FBXO14; FBXO31; Fbx31; MRT45; pp2386", "protein_names_uniprotkb": "F-box only protein 31", "protein_names_refseq": "F-box only protein 31 isoform 2; F-box only protein 31; SCF ubiquitin ligase specificity factor; putative breast cancer tumor-suppressor", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 45 (Disease Ontology:DOID:0081209)", "pathway": " (hsa:79791); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 180, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;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;15498874;15520277;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16357137;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;19412162;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23469015;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24623383;24636985;24793695;24793696;24828503;24936062;25314029;25349211;25355947;25531226;26124108;26344709;26375851;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27600516;27920218;28115426;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29153394;29242379;29279382;29343641;29493099;29557506;29786170;30171069;30315122;30379171;30429286;30610225;31413110;31844290;31848261;32005965;32157095;32284348;32357974;32488085;32938616;32989326;33444648;33592498;33675180;33912179;33968037;34185709;34686346;34932366;35051231;35580925;36010968;36241641;36284347;39880951;39894887;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Ascribe a role for FBXO31 in dendrite growth and neuronal migration in the developing cerebellar cortex. Taken together, we uncovered the centrosomal E3 ligase FBXO31-SCF as a novel regulator of neuronal development, [RefSeq, PubMed]; Ectopic expression of FBXO31 acts through a proteasome-directed pathway to mediate the degradation of cyclin D1, an important regulator of progression from G1 to S phase, resulting in arrest in G1, [RefSeq, PubMed]; Loss of FBXO31 is associated with breast cancer, [RefSeq, PubMed]; Substrate-recognition component of the SCF(FBXO31) protein ligase complex, which specifically mediates the ubiquitination of proteins amidated at their C-terminus in response to oxidative stress, leading to their degradation by the proteasome (PubMed:39880951). FBXO31 specifically recognizes and binds C-terminal peptides bearing an amide: C-terminal amidation in response to oxidative stress takes place following protein fragmentation (PubMed:39880951). The SCF(FBXO31) also plays a role in G1 arrest following DNA damage by mediating ubiquitination of phosphorylated cyclin-D1 (CCND1), promoting its degradation by the proteasome, resulting in G1 arrest (PubMed:19412162, PubMed:29279382). The SCF(FBXO31) complex is however not a major regulator of CCND1 stability during the G1/S transition (By similarity). In response to genotoxic stress, the SCF(FBXO31) complex directs ubiquitination and degradation of phosphorylated MDM2, thereby promoting p53/TP53-mediated DNA damage response (PubMed:26124108). SCF(FBXO31) complex is required for genomic integrity by catalyzing ubiquitination and degradation of cyclin-A (CCNA1 and/or CCNA2) during the G1 phase (PubMed:31413110). In response to genotoxic stress, the SCF(FBXO31) complex directs ubiquitination and degradation of phosphorylated FBXO46 and MAP2K6 (PubMed:24936062, PubMed:30171069). SCF(FBXO31) complex promotes ubiquitination and degradation of CDT1 during the G2 phase to prevent re-replication (PubMed:24828503). The SCF(FBXO31) complex also mediates ubiquitination and degradation of DUSP6, OGT and PARD6A (PubMed:23469015, PubMed:34686346, PubMed:39894887)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. 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": 6, "reported_mutagensis": 21, "reported_glycation": 0, "reported_snv": 11, "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": "Q5K680;Q8WYV1;Q96D73;Q9UFV4", "ec_number_list": "", "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:0030332 cyclin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0043025 neuronal cell body;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0006974 DNA damage response;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0034599 cellular response to oxidative stress;GO:0042770 signal transduction in response to DNA damage;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 18.3, "record_id": "Q5XUX0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P30281-1", "uniprot_id": "CCND3_HUMAN", "mass": 32520.0, "length": 292, "protein_name": "G1/S-specific cyclin-D3", "gene_name": "CCND3", "organism": "Human", "refseq_name": "G1/S-specific cyclin-D3 isoform 1", "refseq_ac": "NP_001129489", "gene_names_uniprotkb": "CCND3", "gene_names_refseq": "CCND3", "protein_names_uniprotkb": "G1/S-specific cyclin-D3", "protein_names_refseq": "D3-type cyclin; G1/S-specific cyclin-D3 isoform 1; G1/S-specific cyclin-D3", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); polycystic ovary syndrome (Disease Ontology:DOID:11612); cervix carcinoma (Disease Ontology:DOID:2893); invasive ductal carcinoma (Disease Ontology:DOID:3008); ovary adenocarcinoma (Disease Ontology:DOID:3713); renal cell carcinoma (Disease Ontology:DOID:4450); multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:896); (R-HSA-381340); (R-HSA-5687128); (R-HSA-69205); (R-HSA-69231); (R-HSA-8934593); (R-HSA-9661069); (R-HSA-9754119)", "pathway_count": 8, "publication_count": 286, "publication_id_list": "10075656;10207050;10228158;10385618;10425206;10454584;10470034;10499802;10597240;10692433;10831586;10856244;10973815;10975528;11032757;11073976;11095972;11157749;11231573;11237011;11416152;11584266;11719808;11804587;11872672;11884610;11959842;11988738;12082095;12172539;12213831;12435635;12444543;12546821;12747775;12782299;12808096;12829629;12915405;1383201;1386335;1386336;1423597;14517297;14597415;14978097;14990995;15014447;15226418;15252116;15273253;15326477;15327989;15331439;15358120;15469821;15510213;15538386;15542782;15577943;15579463;15850785;15919796;16195327;16287839;16331257;16360641;16371649;16380219;16476733;16782892;16971392;16973613;17011499;17092340;17121911;17161475;17237358;17254966;17254967;17254968;17363486;17395884;17431401;17589498;17709384;17728103;17908796;17947239;17980149;18031682;18162290;18235225;18248330;1826560;1828392;1828393;1828394;18414028;18593949;18644862;18669648;18710949;18720373;18827403;18931025;19043829;19075005;19114653;19115207;19166925;19172745;19237555;19458076;19473979;19487459;19513348;19593530;19690332;20101261;20107323;20236090;20536836;20543837;20663872;20734105;20843055;20849292;20952511;21177870;21317288;21329875;21329882;21372320;21423214;21715330;22020328;22267219;22279049;22424782;22505454;22508986;22759635;22800433;23007395;23069990;23239344;23622515;23737759;23807770;23878308;24309468;24366607;24388988;24515438;24585635;24876129;24919854;25339975;25452107;25486476;25562167;25645385;25733683;25802875;25892735;26154972;26606677;26716895;26749280;26826116;26992070;27146121;27496135;27600516;27846572;27862975;27893789;27920218;28228285;28418845;28446606;28514659;28578693;28607489;28832583;28834231;28904123;29242379;29269870;29493099;29508533;29557506;29632711;30234987;30315122;30429286;30524438;30711375;30724426;30779550;30833945;31154438;31222486;31530632;31543423;31831640;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33068248;33122824;33392160;33537174;33592498;33691108;33854235;33854239;33968037;33981976;34110834;34171305;34185709;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36161661;36241641;36284347;36965165;37938771;7559638;7623816;7797074;7799959;7929342;7954814;8107774;8114698;8114739;8139570;8246996;8288595;8325954;8336704;8386878;8413249;8497257;8618861;8643605;8674031;8706692;8770873;8943353;8970730;9020173;9042862;9065481;9106657;9144196;9190208;9325318;9342358;9447971;9448290;9454824;9508775;9520412;9535855;9628874;9662327;9747882;9778043;9836620", "class_list": "", "function": "Cyclin D3 restricts SARS-CoV-2 envelope incorporation into virions and interferes with viral spread., [RefSeq, PubMed]; Regulatory component of the cyclin D3-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition (PubMed:8114739). Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase (PubMed:8114739). Hypophosphorylates RB1 in early G(1) phase (PubMed:8114739). Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals (PubMed:8114739). Component of the ternary complex, cyclin D3/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex (PubMed:16782892). Shows transcriptional coactivator activity with ATF5 independently of CDK4 (PubMed:15358120)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Targeting diacylglycerol kinase alpha impairs lung tumorigenesis by inhibiting cyclin D3., [RefSeq, PubMed]; The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activtiy is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. The CDK4 activity associated with this cyclin was reported to be necessary for cell cycle progression through G2 phase into mitosis after UV radiation. Several transcript variants encoding different isoforms have been found for this gene. [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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "B2RD63;B3KQ22;E9PAS4;E9PB36;Q5T8J0;Q6FG62;Q96F49", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0043539 protein serine/threonine kinase activator activity;GO:0004693 cyclin-dependent protein serine/threonine kinase activity;GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity;GO:0061575 cyclin-dependent protein serine/threonine kinase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005815 microtubule organizing center", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0051301 cell division;GO:0000082 G1/S transition of mitotic cell cycle;GO:1900087 positive regulation of G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 28.7, "record_id": "P30281-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UDY8-1", "uniprot_id": "MALT1_HUMAN", "mass": 92272.0, "length": 824, "protein_name": "Mucosa-associated lymphoid tissue lymphoma translocation protein 1", "gene_name": "MALT1", "organism": "Human", "refseq_name": "mucosa-associated lymphoid tissue lymphoma translocation protein 1 isoform a", "refseq_ac": "NP_006776", "gene_names_uniprotkb": "MALT1; MLT", "gene_names_refseq": "IMD12; MALT1; MLT1; MLT; PCASP1", "protein_names_uniprotkb": "Mucosa-associated lymphoid tissue lymphoma translocation protein 1; 3.4.22.-; MALT lymphoma-associated translocation; Paracaspase", "protein_names_refseq": "MALT1 protease; caspase-like protein; mucosa associated lymphoid tissue lymphoma translocation gene 1; mucosa-associated lymphoid tissue lymphoma translocation protein 1 isoform a; mucosa-associated lymphoid tissue lymphoma translocation protein 1; paracaspase-1", "tax_id": 9606, "disease": "lymphoma (Disease Ontology:DOID:0060058); non-Hodgkin lymphoma (Disease Ontology:DOID:0060060); immunodeficiency 12 (Disease Ontology:DOID:0111988)", "pathway": " (hsa:10892); (R-HSA-1169091); (R-HSA-202424); (R-HSA-2871837); (R-HSA-5607764); (R-HSA-5660668)", "pathway_count": 6, "publication_count": 185, "publication_id_list": "10066435;10187770;10230406;10321728;10339464;10514424;10523859;10593898;10610122;10698680;10702308;10702396;10716940;10779524;10838074;10882101;11053425;11057907;11090634;11237011;11262391;11325957;11358993;11460167;11606584;11772397;11884229;12070292;12118249;12473183;12473184;12646168;12660731;14514672;14695475;15105418;15122200;15125833;15145317;15327770;15371334;15541657;1574116;15845454;16056267;16123224;16186825;16252004;16301747;16341139;16356853;16356855;16356856;16612002;16831874;16978534;17047224;17072321;17135271;17158449;17363905;17428801;17468049;17496917;17548359;1756723;17728323;17948050;18264101;18462924;18669648;18772140;19066035;19359218;19909372;19934406;20038579;20068231;20193029;20300203;20449947;20538596;20685844;21525931;21966355;22069318;22265677;22267217;22798961;23301498;23481700;23727036;24074955;24366607;25505266;25576301;25880248;25892735;26154972;26375851;26377317;27113748;27600516;27846572;27920218;28228285;28628108;28832583;28834231;28904123;29242379;29351928;29393594;29508533;29557506;29632711;29786170;29789417;30315122;30429286;30779550;31133753;31154438;31217245;31222486;3129195;31530632;31844290;31848261;31998317;32157095;32265295;32357974;32502341;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34405274;34932366;35051231;35154160;35580925;36010968;36241641;36284347;37217939;38183651;38418651;38519981;39136445;7479848;7479976;7499357;7575604;7612269;7628694;7809113;7831327;7862124;7957109;8387275;8550590;8601309;8670417;8972730;9135156;9252186;9315679;9362451;9687533;9721103;9859996;9914500;9990852;9990853", "class_list": "", "function": "Blood MALT1 reflects acute exacerbation risk and inflammation in elderly chronic obstructive pulmonary disease patients., [RefSeq, PubMed]; Comparative analysis of the active site suggests that paracaspases constitute one of the several subclasses of metacaspases that have evolved several times independently., [RefSeq, PubMed]; Inhibition of the MALT1-LPCAT3 axis protects cartilage degeneration and osteoarthritis. Publication Status: Online-Only, [RefSeq, PubMed]; Long-term monitoring of gastric mucosa-associated lymphoid tissue lymphoma in patients with extra copies of the MALT1 gene. Publication Status: Online-Only, [RefSeq, PubMed]; Protease that enhances BCL10-induced activation: acts via formation of CBM complexes that channel adaptive and innate immune signaling downstream of CARD domain-containing proteins (CARD9, CARD11 and CARD14) to activate NF-kappa-B and MAP kinase p38 pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines (PubMed:11262391, PubMed:18264101, PubMed:24074955). Mediates BCL10 cleavage: MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion (PubMed:11262391, PubMed:18264101). Involved in the induction of T helper 17 cells (Th17) differentiation (PubMed:11262391, PubMed:18264101). Cleaves RC3H1 and ZC3H12A in response to T-cell receptor (TCR) stimulation which releases their cooperatively repressed targets to promote Th17 cell differentiation (By similarity). Also mediates cleavage of N4BP1 in T-cells following TCR-mediated activation, leading to N4BP1 inactivation (PubMed:31133753). May also have ubiquitin ligase activity: binds to TRAF6, inducing TRAF6 oligomerization and activation of its ligase activity (PubMed:14695475)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The paracaspase MALT1 controls cholesterol homeostasis in glioblastoma stem-like cells through lysosome proteome shaping., [RefSeq, PubMed]; This gene encodes a caspase-like protease that plays a role in BCL10-induced activation of NF-kappaB. The protein is a component of the CARMA1-BCL10-MALT1 (CBM) signalosome that triggers NF-kappaB signaling and lymphoctye activation following antigen-receptor stimulation. Mutations in this gene result in immunodeficiency 12 (IMD12). This gene has been found to be recurrently rearranged in chromosomal translocations with other genes in mucosa-associated lymphoid tissue lymphomas, including a t(11;18)(q21;q21) translocation with the baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) locus [BIRC3(API2)-MALT1], and a t(14;18)(q32;q21) translocation with the immunoglobulin heavy chain locus (IGH-MALT1). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2018]., [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": 3, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9NTB7;Q9ULX4", "ec_number_list": "2.7.11.10;2.7.11.1;2.7.11.25;2.3.2.23;2.7.11.13;3.4.22.61;3.4.22.-;2.3.2.27", "go_molecular_function": "GO:0002020 protease binding;GO:0004175 endopeptidase activity;GO:0042802 identical protein binding;GO:0008233 peptidase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0032991 protein-containing complex", "go_biological_process": "GO:2000321 positive regulation of T-helper 17 cell differentiation;GO:0006508 proteolysis;GO:0006952 defense response;GO:0043066 negative regulation of apoptotic process;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 18.8, "record_id": "Q9UDY8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q93084-2", "uniprot_id": "AT2A3_HUMAN", "mass": 109256.0, "length": 999, "protein_name": "Sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "gene_name": "ATP2A3", "organism": "Human", "refseq_name": "sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform a", "refseq_ac": "NP_005164", "gene_names_uniprotkb": "ATP2A3", "gene_names_refseq": "ATP2A3; SERCA3", "protein_names_uniprotkb": "Sarcoplasmic/endoplasmic reticulum calcium ATPase 3; 7.2.2.10; Calcium pump 3; SERCA3; SR Ca(2+)-ATPase 3", "protein_names_refseq": "ATPase, Ca(2+)-transporting, ubiquitous; ATPase, Ca++ transporting, ubiquitous; SR Ca(2+)-ATPase 3; adenosine triphosphatase, calcium; calcium pump 3; calcium-translocating P-type ATPase; sarco/endoplasmic reticulum Ca2+ -ATPase; sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform a; sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "tax_id": 9606, "disease": "Brody myopathy (Disease Ontology:DOID:0050692); hypertension (Disease Ontology:DOID:10763); heart disease (Disease Ontology:DOID:114)", "pathway": " (hsa:489); (R-HSA-1912420); (R-HSA-418359); (R-HSA-5578775); (R-HSA-936837)", "pathway_count": 5, "publication_count": 152, "publication_id_list": "10075724;10220561;10366590;10401004;10459009;10484781;10545110;10615129;10669757;10767338;10913253;10935626;10935637;11062458;11135303;11530204;11707585;11904675;11956212;12049766;12119109;12406570;12665801;12832055;12953268;1295745;1374913;15028735;15174025;15260953;15598648;15754088;15831496;15919184;15925480;16182249;1656976;16700898;16754674;1693919;16959974;17224452;17357072;17486119;1764995;18723824;18995841;19278978;19345671;19690332;19701457;19751721;19878721;20170518;20197277;20298697;20388710;21097675;21108950;2160952;21850230;22186024;22210847;2226863;22427649;22544926;22707725;22972900;23186163;23196729;23362265;23481700;23549614;23610579;2430951;24392018;2477373;25418920;2559024;25892735;25994790;26421717;27067231;28063628;28228285;2838329;28446606;2844759;28645727;28832583;28855257;28890335;29242379;29314611;29351928;29393594;29508533;2953725;29632046;29769354;29786170;30657210;31023247;31154438;31530632;32157095;32983136;33043033;33691108;33717175;33936100;33968037;34357683;34513312;34932366;35051231;35154160;35469018;35580925;36010968;36241641;36284347;36581221;38184384;5961668;6328127;6832622;7626145;7702581;7918097;7929371;8021246;8045293;8288608;8293978;8298639;8490646;8490659;8681805;8798450;8809064;8918259;9147644;9187150;9207795;9244302;9307043;9346285;9593748;9653148;9727485;9843705", "class_list": "", "function": "Data show that the nucleotide sequence from -280 to -135 position is an ATP2A3 epigenetic regulatory CpG region. SERCA3 mRNA expression is decreased during gastric and colorectal carcinoma development and tumors with high SERCA3 expression are associated with increased overall survival. These results suggest an essential role for SERCA3 in the regulation of cellular identity and growth, through cellular Ca2+ management., [RefSeq, PubMed]; Novel sarco/endoplasmic isoforms; data suggest that the SERCA3 gene products have a more widespread role in cellular Ca2+ signaling than previously appreciated, [RefSeq, PubMed]; Sarco/endoplasmic reticulum calcium ATPase 3 (SERCA3) expression in gastrointestinal stromal tumours., [RefSeq, PubMed]; This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium. Transports calcium ions from the cytosol into the sarcoplasmic/endoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction., [UniProtKB, PubMed, PubMed]; This study demonstrates that ATP2A3 might be one of the potential targets for salinomycin, which can inhibit Ca(2+) release and trigger ER stress to exert anti-cancer effects. 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": 25, "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": "A8MZG0;D3DTJ8;O60900;O60901;O75501;O75502;Q16115;Q6JHX1;Q8TEX5;Q8TEX6", "ec_number_list": "7.2.2.10;3.6.5.2;2.7.11.17", "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0005246 calcium channel regulator activity;GO:0016887 ATP hydrolysis activity;GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane;GO:0031090 organelle membrane", "go_biological_process": "GO:0006816 calcium ion transport;GO:0006874 intracellular calcium ion homeostasis;GO:0034220 monoatomic ion transmembrane transport;GO:1903779 regulation of cardiac conduction;GO:0070588 calcium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 15.5, "record_id": "Q93084-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96FZ5-1", "uniprot_id": "CKLF7_HUMAN", "mass": 18834.0, "length": 175, "protein_name": "CKLF-like MARVEL transmembrane domain-containing protein 7", "gene_name": "CMTM7", "organism": "Human", "refseq_name": "CKLF-like MARVEL transmembrane domain-containing protein 7 isoform a", "refseq_ac": "NP_612419", "gene_names_uniprotkb": "CMTM7; CKLFSF7", "gene_names_refseq": "CKLFSF7; CMTM7", "protein_names_uniprotkb": "CKLF-like MARVEL transmembrane domain-containing protein 7; Chemokine-like factor superfamily member 7", "protein_names_refseq": "CKLF-like MARVEL transmembrane domain-containing protein 7 isoform a; CKLF-like MARVEL transmembrane domain-containing protein 7; chemokine-like factor super family 7; chemokine-like factor superfamily 7; chemokine-like factor superfamily member 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:112616)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;12782130;20400778;22363743;23893243;29242379;31844290;32157095;32568178;34281589;34294040;36829181", "class_list": "", "function": "Bioinformatics based on CKLF2 cDNA and protein sequences in combination with experimental validation identified CKLFSF1-8 gene clusters, between the SCY and the TM4SF gene families. The 8 family members were cloned and characterized., [RefSeq, PubMed]; Breast cancer cell-derived extracellular vesicles transfer miR-182-5p and promote breast carcinogenesis via the CMTM7/EGFR/AKT axis. Publication Status: Online-Only, [RefSeq, PubMed]; CMTM5/7 are biomarkers and prognostic factors in human breast carcinoma., [RefSeq, PubMed]; CMTM7 as a novel molecule of ATG14L-Beclin1-VPS34 complex enhances autophagy by Rab5 to regulate tumorigenicity. Publication Status: Online-Only, [RefSeq, PubMed]; CMTM7 functions to link sIgM and BLNK in the plasma membrane., [RefSeq, PubMed]; CMTM7 inhibits breast cancer progression by regulating Wnt/beta-catenin signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of CMTM7 by promoter CpG methylation is associated with neoplasms., [RefSeq, PubMed]; Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene acts as a tumor suppressor that regulates G1/S transition in the cell cycle, and epidermal growth factor receptor/protein kinase B signaling during tumor pathogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 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": "Q5VLK1", "ec_number_list": "", "go_molecular_function": "GO:0005125 cytokine activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0016020 membrane", "go_biological_process": "GO:0006935 chemotaxis", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q96FZ5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NX58-1", "uniprot_id": "LYAR_HUMAN", "mass": 43634.0, "length": 379, "protein_name": "Cell growth-regulating nucleolar protein", "gene_name": "LYAR", "organism": "Human", "refseq_name": "cell growth-regulating nucleolar protein", "refseq_ac": "NP_001139197", "gene_names_uniprotkb": "LYAR; PNAS-5", "gene_names_refseq": "LYAR; ZC2HC2; ZLYAR", "protein_names_uniprotkb": "Cell growth-regulating nucleolar protein", "protein_names_refseq": "Ly1 antibody reactive homolog; cell growth-regulating nucleolar protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55646)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11230166;11237011;12429849;16083285;17287340;18212344;18669648;20068231;23301498;24495227;24990247;25092918;25218447;26203195;28510447;28686580;30779550;31413131;33214551;34019948;34229054;34890041;35138101;36614221;37217939;40914422", "class_list": "", "function": "LYAR promotes the proliferation of non-small cell lung cancer and is associated with poor prognosis., [RefSeq, PubMed]; Plays a role in the maintenance of the appropriate processing of 47S/45S pre-rRNA to 32S/30S pre-rRNAs and their subsequent processing to produce 18S and 28S rRNAs (PubMed:24495227). Also acts at the level of transcription regulation. Along with PRMT5, binds the gamma-globin (HBG1/HBG2) promoter and represses its expression (PubMed:25092918). In neuroblastoma cells, may also repress the expression of oxidative stress genes, including CHAC1, HMOX1, SLC7A11, ULBP1 and SNORD41 that encodes a small nucleolar RNA (PubMed:28686580). Preferentially binds to a DNA motif containing 5'-GGTTAT-3' (PubMed:25092918). Negatively regulates the antiviral innate immune response by targeting IRF3 and impairing its DNA-binding activity (PubMed:31413131). In addition, inhibits NF-kappa-B-mediated expression of pro-inflammatory cytokines (PubMed:31413131). Stimulates phagocytosis of photoreceptor outer segments by retinal pigment epithelial cells (By similarity). Prevents nucleolin/NCL self-cleavage, maintaining a normal steady-state level of NCL protein in undifferentiated embryonic stem cells (ESCs), which in turn is essential for ESC self-renewal (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The rs368698783 (G>A) Polymorphism Affecting LYAR Binding to the Agamma-Globin Gene Is Associated with High Fetal Hemoglobin (HbF) in beta-Thalassemia Erythroid Precursor Cells Treated with HbF Inducers. 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": 7, "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": "D3DVS4;Q6FI78;Q9NYS1", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0140416 transcription regulator inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0001750 photoreceptor outer segment", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045087 innate immune response;GO:0050766 positive regulation of phagocytosis;GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9NX58-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15554-3", "uniprot_id": "TERF2_HUMAN", "mass": 59594.0, "length": 542, "protein_name": "Telomeric repeat-binding factor 2", "gene_name": "TERF2", "organism": "Human", "refseq_name": "telomeric repeat-binding factor 2", "refseq_ac": "NP_005643", "gene_names_uniprotkb": "TERF2; TRBF2; TRF2", "gene_names_refseq": "TERF2; TRBF2; TRF2", "protein_names_uniprotkb": "Telomeric repeat-binding factor 2; TTAGGG repeat-binding factor 2; Telomeric DNA-binding protein", "protein_names_refseq": "TTAGGG repeat-binding factor 2; telomeric DNA-binding protein; telomeric repeat binding protein 2; telomeric repeat-binding factor 2", "tax_id": 9606, "disease": "xeroderma pigmentosum (Disease Ontology:DOID:0050427)", "pathway": " (hsa:7014); (R-HSA-110328); (R-HSA-110329); (R-HSA-110330); (R-HSA-110331); (R-HSA-1221632); (R-HSA-171306); (R-HSA-171319); (R-HSA-174411); (R-HSA-174414); (R-HSA-174417); (R-HSA-174430); (R-HSA-174437); (R-HSA-2559586); (R-HSA-9670095)", "pathway_count": 15, "publication_count": 208, "publication_id_list": "10.1101/2023.09.13.557529;10037601;10074426;10323868;10329413;10669743;10706276;10882850;10888888;10930409;11056019;11454856;11545737;11673449;11904416;12097317;12140329;12393752;12456671;12556884;12699629;12718543;12766176;12930902;12953102;14532133;15007108;15060173;15064416;15066120;15125634;15189140;15235794;15316005;15341901;15369670;15383534;15458641;15510216;15608617;15655109;15790808;16141325;16166375;16221681;16223874;16262255;16314528;16339074;16408927;16522649;16606622;16730175;16730176;16858402;16964243;17081983;17172855;17395830;17512402;17694070;17923702;18202258;18358808;18438399;18468965;18523010;18593705;18593712;18669648;19146767;19179534;1924375;19383767;19398584;19596235;19596784;19690332;19734544;1974050;19783983;19854130;20068231;20211137;20404094;20524933;20551483;20634189;20639858;20651253;20655466;21406692;21722948;22460582;22569481;22579284;22841872;22848106;22871736;22962365;23103865;23186163;23307557;2342578;23481700;23604072;23657261;23755964;2392154;24038470;24115439;24275569;25128433;25240135;25271372;25593184;25620558;25880248;26055325;26095805;26154972;26811146;27354518;27600516;27846572;27849570;27862975;27920218;28216226;28218747;28334750;28832583;28834231;28854357;28904123;29178645;29242379;29393594;29557506;29632711;29695869;29774655;30026550;30315122;30524438;30833945;31154438;31530632;31595153;31723267;31844290;31848261;32157095;32357974;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33968037;34171305;34211107;34561969;34932366;35051231;35580925;36284347;38323741;38414350;38884214;39082275;40914422;6693436;7479006;8016081;8110764;8218289;8242751;8242752;8284199;8407958;8475094;8614633;8662714;8794855;8954124;9008167;9187114;9207108;9223305;9223306;9285814;9321410;9326950;9326951;9430628;9476899;9705289;9733514;9733515;9790531;9811839;9822671;9843217;9890904", "class_list": "", "function": "Binding of the TRF2 iDDR motif to RAD50 highlights a convergent evolutionary strategy to inactivate MRN at telomeres., [RefSeq, PubMed]; Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and plays a central role in telomere maintenance and protection against end-to-end fusion of chromosomes (PubMed:15608617, PubMed:16166375, PubMed:20655466, PubMed:28216226, PubMed:31595153, PubMed:9326950, PubMed:9326951, PubMed:9476899). In addition to its telomeric DNA-binding role, required to recruit a number of factors and enzymes required for telomere protection, including the shelterin complex, TERF2IP/RAP1 and DCLRE1B/Apollo (PubMed:16166375, PubMed:20655466). Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection (PubMed:16166375). Shelterin associates with arrays of double-stranded 5'-TTAGGG-3' repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways (PubMed:16166375). Together with DCLRE1B/Apollo, plays a key role in telomeric loop (T loop) formation by generating 3' single-stranded overhang at the leading end telomeres: T loops have been proposed to protect chromosome ends from degradation and repair (PubMed:20655466). Required both to recruit DCLRE1B/Apollo to telomeres and activate the exonuclease activity of DCLRE1B/Apollo (PubMed:20655466, PubMed:28216226). Preferentially binds to positive supercoiled DNA (PubMed:15608617, PubMed:20655466). Together with DCLRE1B/Apollo, required to control the amount of DNA topoisomerase (TOP1, TOP2A and TOP2B) needed for telomere replication during fork passage and prevent aberrant telomere topology (PubMed:20655466). Recruits TERF2IP/RAP1 to telomeres, thereby participating in to repressing homology-directed repair (HDR), which can affect telomere length (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; MiR-29b-1-5p exacerbates myocardial injury induced by sepsis in a mouse model by targeting TERF2., [RefSeq, PubMed]; TRF2-RAP1 represses RAD51-dependent homology-directed telomere repair by promoting BLM-mediated D-loop unwinding and inhibiting BLM-DNA2-dependent 5'-end resection., [RefSeq, PubMed]; The novel TERF2::PDGFRB fusion gene enhances tumorigenesis via PDGFRB/STAT5 signalling pathways and sensitivity to TKI in ph-like ALL., [RefSeq, PubMed]; This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [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": 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": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0098505 G-rich strand telomeric DNA binding;GO:0019899 enzyme binding;GO:0042803 protein homodimerization activity;GO:0042162 telomeric DNA binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0030424 axon;GO:0016604 nuclear body;GO:0000783 nuclear telomere cap complex", "go_biological_process": "GO:0006278 RNA-templated DNA biosynthetic process;GO:0032205 negative regulation of telomere maintenance;GO:0032204 regulation of telomere maintenance;GO:1904430 negative regulation of t-circle formation;GO:0000723 telomere maintenance", "synthesized_glycan_count": 0, "hit_score": 21.5, "record_id": "Q15554-3", "record_type": "protein" }, { "uniprot_canonical_ac": "O15344-1", "uniprot_id": "TRI18_HUMAN", "mass": 75251.0, "length": 667, "protein_name": "E3 ubiquitin-protein ligase Midline-1", "gene_name": "MID1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase Midline-1 isoform 1", "refseq_ac": "NP_000372", "gene_names_uniprotkb": "MID1; FXY; RNF59; TRIM18; XPRF", "gene_names_refseq": "BBBG1; FXY; GBBB1; GBBB; MID1; MIDIN; OGS1; OSX; OS; RNF59; TRIM18; XPRF; ZNFXY", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase Midline-1; 2.3.2.27; Midin; Putative transcription factor XPRF; RING finger protein 59; RING finger protein Midline-1; RING-type E3 ubiquitin transferase Midline-1; Tripartite motif-containing protein 18", "protein_names_refseq": "E3 ubiquitin-protein ligase Midline-1 isoform 1; E3 ubiquitin-protein ligase Midline-1; Opitz/BBB syndrome; RING finger protein 59; RING finger protein Midline-1; RING-type E3 ubiquitin transferase Midline-1; midline 1 RING finger protein; putative transcription factor XPRF; tripartite motif protein TRIM18; tripartite motif-containing protein 18; zinc finger on X and Y, mouse, homolog of", "tax_id": 9606, "disease": "Opitz GBBB syndrome (Disease Ontology:DOID:0080697); microphthalmia (Disease Ontology:DOID:10629)", "pathway": " (hsa:4281); (R-HSA-877300)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10.1101/2023.09.13.557529;10067896;10077590;10400985;10986460;11030761;11237011;11331580;11371618;11685209;11806752;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15388922;15530433;15558842;16237089;16467876;16529770;17081983;17125875;18362138;18591661;18669648;18949047;19413330;19651622;19664995;20049711;20068231;20130243;20304997;20363976;21406692;22613722;22629402;23061660;23186163;23481700;24417533;25502872;25576301;29242379;29393594;29557506;29786170;30429286;30779550;30833945;31154438;31844290;32157095;32161166;32488085;32938616;33141586;33239784;33537174;33592498;33968037;33981976;34087483;34171305;34185709;34405274;35051231;35580925;36010968;36241641;37217939;37498300;38238086;38392560;38777113;39894887;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9111318;9143706;9354791;9425238;9718340;9722948", "class_list": "", "function": "Absence of the RING domain in MID1 results in patterning defects in the developing human brain. Publication Status: Online-Only, [RefSeq, PubMed]; Erdr1 Drives Macrophage Programming via Dynamic Interplay with YAP1 and Mid1., [RefSeq, PubMed]; Has E3 ubiquitin ligase activity towards IGBP1, promoting its monoubiquitination, which results in deprotection of the catalytic subunit of protein phosphatase PP2A, and its subsequent degradation by polyubiquitination., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Mid1 promotes synovitis in rheumatoid arthritis via ubiquitin-dependent post-translational modification., [RefSeq, PubMed]; Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant., [RefSeq, PubMed]; The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. 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 protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 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": 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": 27, "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": "B2RCG2;O75361;Q9BZX5", "ec_number_list": "2.3.2.27;2.7.7.84;1.8.4.-;1.8.-.-;2.3.2.-;3.6.1.-;3.6.5.-;2.7.11.1;2.3.1.-;6.3.2.n3", "go_molecular_function": "GO:0008017 microtubule binding;GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005819 spindle;GO:0005829 cytosol;GO:0005874 microtubule;GO:0005875 microtubule associated complex", "go_biological_process": "GO:0000226 microtubule cytoskeleton organization;GO:0007389 pattern specification process;GO:0070507 regulation of microtubule cytoskeleton organization;GO:0032874 positive regulation of stress-activated MAPK cascade;GO:0035372 protein localization to microtubule", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "O15344-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5TGU0-1", "uniprot_id": "TSPO2_HUMAN", "mass": 19129.0, "length": 170, "protein_name": "Translocator protein 2", "gene_name": "TSPO2", "organism": "Human", "refseq_name": "translocator protein 2", "refseq_ac": "NP_001010873", "gene_names_uniprotkb": "TSPO2; BZRPL1", "gene_names_refseq": "BZRPL1; TSPO2", "protein_names_uniprotkb": "Translocator protein 2; Peripheral-type benzodiazepine receptor-like protein 1", "protein_names_refseq": "benzodiazapine receptor (peripheral)-like 1; peripheral-type benzodiazepine receptor-like protein 1; translocator protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:222642)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "19625176;19729679;27641616;30061676;31989647", "class_list": "", "function": "Cholesterol-binding protein involved in the redistribution of cholesterol from lipid droplets to the endoplasmic reticulum (PubMed:19729679). Required to meet cholesterol demands during erythropoietic differentiation (PubMed:19729679). May play a role in transport processes at the plasma membrane of erythrocytes, including regulating VDAC-mediated ATP export, and import of the heme precursors protoporphyrin IX and 5-aminolevulinic acid (PubMed:27641616, PubMed:30061676, PubMed:31989647)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Identify the TSPO2 family of proteins as mediators of cholesterol redistribution-dependent erythroblast maturation during mammalian erythropoiesis, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TSPO ligands can induce Plasmodium falciparum death by increasing the uptake of porphyrins through a TSPO2-VDAC complex, which leads to an accumulation of reactive oxygen species. 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": "B2RPR2;B7ZMN8;Q3SX82", "ec_number_list": "", "go_molecular_function": "GO:0015485 cholesterol binding;GO:0140485 5-aminolevulinic acid transmembrane transporter activity", "go_cellular_component": "GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0031090 organelle membrane", "go_biological_process": "GO:0043353 enucleate erythrocyte differentiation;GO:0032367 intracellular cholesterol transport;GO:0034389 lipid droplet organization;GO:0098739 import across plasma membrane;GO:0140484 5-aminolevulinic acid import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q5TGU0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H792-1", "uniprot_id": "PEAK1_HUMAN", "mass": 193106.0, "length": 1746, "protein_name": "Inactive tyrosine-protein kinase PEAK1", "gene_name": "PEAK1", "organism": "Human", "refseq_name": "inactive tyrosine-protein kinase PEAK1 isoform a", "refseq_ac": "NP_079052", "gene_names_uniprotkb": "PEAK1; KIAA2002", "gene_names_refseq": "PEAK1; SGK269", "protein_names_uniprotkb": "Inactive tyrosine-protein kinase PEAK1; Pseudopodium-enriched atypical kinase 1; Sugen kinase 269; Tyrosine-protein kinase SgK269", "protein_names_refseq": "NKF3 kinase family member; inactive tyrosine-protein kinase PEAK1 isoform a; inactive tyrosine-protein kinase PEAK1; sugen kinase 269; tyrosine-protein kinase SgK269", "tax_id": 9606, "disease": "", "pathway": " (hsa:79834); (R-HSA-9013420); (R-HSA-9013424)", "pathway_count": 3, "publication_count": 102, "publication_id_list": "11237011;11459829;12056414;12471243;14521508;15350535;15556869;17081983;17344846;17355222;17504809;18491316;18669648;19064640;19413330;19651622;19664994;20068231;20534451;20547754;21508312;21565175;22339630;23105102;23186163;23301498;23846654;24107129;24275569;24715725;25576301;25880248;26598620;26728094;26758079;26992070;27600516;27846572;27862975;28832583;28904123;29079850;29212708;29242379;29557506;29632046;29741879;30410026;30429286;30524438;30779550;30833945;31154438;31217245;31492838;31844290;31848261;31871319;32157095;32357974;32387766;32502341;32681075;32737221;32938616;32938750;32983136;33141586;33298915;33392160;33592498;33633747;33912179;33936100;33968037;34019948;34171305;34365903;34509645;34554318;34846842;34932366;35051231;35254053;35289036;35318648;35513511;35561310;35580925;35687021;35996515;36010968;36148757;36241641;36284347;37541260;37938771;38665916;39302247;39531497;39534244;9778532", "class_list": "", "function": "Also known as SgK269. Contains a divergent and possibly inactive eukaryotic protein kinase domain. Has one human paralog, known as SgK223 or pragmin. These two constitute the NKF3 subfamily of protein kinases, found in vertebrates and echinoderms Review article, [RefSeq, PubMed]; Clinical Significance of PEAK1 Expression and BRAF V600E Mutation in Papillary Thyroid Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Exosome-delivered circSATB2 targets the miR-330-5p/PEAK1 axis to regulate proliferation, migration and invasion of lung cancer cells., [RefSeq, PubMed]; PEAK1 Y635 phosphorylation regulates cell migration through association with Tensin3 and integrins., [RefSeq, PubMed]; PEAK1 promotes invasion and metastasis and confers drug resistance in breast cancer., [RefSeq, PubMed]; Phosphorylation of tyrosine 665 in pseudopodium-enriched atypical kinase 1 (PEAK1) is essential for the regulation of cell migration and focal adhesion turnover, [RefSeq, PubMed]; Probable catalytically inactive kinase. Scaffolding protein that regulates the cytoskeleton to control cell spreading and migration by modulating focal adhesion dynamics (PubMed:20534451, PubMed:23105102, PubMed:35687021). Acts as a scaffold for mediating EGFR signaling (PubMed:23846654)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Pseudopodium enriched atypical kinase 1(PEAK1) promotes invasion and of melanoma cells by activating JAK/STAT3 signals., [RefSeq, PubMed]; This gene encodes a non-receptor tyrosine kinase that is a member of the new kinase family three (NFK3) family. In migrating cells, the encoded protein is associated with the actin cytoskeleton and focal adhesions and promotes developing focal adhesion elongation. This protein may play a role in the regulation of cell migration, proliferation and cancer metastasis. [provided by RefSeq, Mar 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": 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": 35, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 71, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZS78;Q8NAZ4;Q8NCM3;Q8TEG7", "ec_number_list": "", "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0051893 regulation of focal adhesion assembly;GO:0016477 cell migration;GO:2000145 regulation of cell motility;GO:0046777 protein autophosphorylation;GO:0034446 substrate adhesion-dependent cell spreading", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "Q9H792-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q504U0-1", "uniprot_id": "CD046_HUMAN", "mass": 11899.0, "length": 113, "protein_name": "Renal cancer differentiation gene 1 protein", "gene_name": "C4orf46", "organism": "Human", "refseq_name": "renal cancer differentiation gene 1 protein", "refseq_ac": "NP_001008394", "gene_names_uniprotkb": "C4orf46; RCDG1", "gene_names_refseq": "C4orf46; RCDG1", "protein_names_uniprotkb": "Renal cancer differentiation gene 1 protein", "protein_names_refseq": "renal cancer differentiation gene 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:201725)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;22544926;23481700;25059753;25645385;26154972;26992070;28832583;28834231;29242379;29331515;29557506;29786170;30524438;31154438;31844290;31937595;32157095;32387766;32897882;32938616;33141586;33298915;33717175;33936100;33968037;34211107;34509645;36010968", "class_list": "", "function": "A reduction in RCDG1 expression may be associated with the oncogenesis of renal cell carcinoma and the differentiation of clear cell renal cell carcinoma., [RefSeq, PubMed]; This gene encodes a small, conserved protein of unknown function that is expressed in a variety of tissues. There are pseudogenes for this gene on chromosomes 6, 8, 16, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B3KNH7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q504U0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N9E0-1", "uniprot_id": "F133A_HUMAN", "mass": 28941.0, "length": 248, "protein_name": "Protein FAM133A", "gene_name": "FAM133A", "organism": "Human", "refseq_name": "protein FAM133A", "refseq_ac": "NP_001164580", "gene_names_uniprotkb": "FAM133A", "gene_names_refseq": "CT115; FAM133A", "protein_names_uniprotkb": "Protein FAM133A", "protein_names_refseq": "cancer/testis antigen 115; protein FAM133A", "tax_id": 9606, "disease": "", "pathway": " (hsa:286499)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "24715725;28904123;35154160", "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": 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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8N9E0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94992-1", "uniprot_id": "HEXI1_HUMAN", "mass": 40623.0, "length": 359, "protein_name": "Protein HEXIM1", "gene_name": "HEXIM1", "organism": "Human", "refseq_name": "protein HEXIM1", "refseq_ac": "NP_006451", "gene_names_uniprotkb": "HEXIM1; CLP1; EDG1; HIS1; MAQ1", "gene_names_refseq": "EDG1; HEXIM1; HIS1; MAQ1", "protein_names_uniprotkb": "Protein HEXIM1; Cardiac lineage protein 1; Estrogen down-regulated gene 1 protein; Hexamethylene bis-acetamide-inducible protein 1; Menage a quatre protein 1", "protein_names_refseq": "HMBA-inducible; cardiac lineage protein 1; estrogen down-regulated gene 1 protein; hexamethylene bis-acetamide inducible 1; hexamethylene bis-acetamide-inducible protein 1; hexamethylene bisacetamide inducible 1; hexamethylene bisacetamide-inducible protein; hexamethylene-bis-acetamide-inducible transcript 1; hexamthylene bis-acetamide inducible 1; menage a quatre 1; menage a quatre protein 1; protein HEXIM1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10614)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "10.1101/2023.09.13.557529;12581153;12832472;12941847;14580347;15169877;15201869;15713661;15855166;15940264;15941832;15965233;16362050;16377779;17081983;17088550;17395637;17452463;17643375;17724342;17937499;18452278;18669648;19651622;19690332;19883659;20068231;21406692;23301498;25900325;26154972;26375851;27920218;28712728;28832583;28904123;29242379;29393594;29508533;29557506;29786170;29789417;30134174;30429286;30779550;31154438;31183407;31373491;31530632;31844290;31848261;32387766;32488085;32938616;32983136;33592498;33912179;33936100;33968037;33981976;34019948;34171305;35051231;35318648;35580925;36284347;37217939;37738561;38816355;39894887", "class_list": "", "function": "Biochemically characterized a hexamethylene bisacetamide-inducible protein HEXIM1, which is a novel nuclear protein. Interacts with p50 of NF-kB and suppresses NF-kB transcription., [RefSeq, PubMed]; Expression of this gene is induced by hexamethylene-bis-acetamide in vascular smooth muscle cells. This gene has no introns. [provided by RefSeq, Jul 2008]., [RefSeq]; HEXIM1 is an essential transcription regulator during human erythropoiesis., [RefSeq, PubMed]; MAQ1 cooperates with 7SK RNA to form a novel type of CDK inhibitor. Erratum:[Mol Cell Biol. 2003 Dec;23(24):9405], [RefSeq, PubMed]; Rapid P-TEFb-dependent transcriptional reorganization underpins the glioma adaptive response to radiotherapy. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional regulator which functions as a general RNA polymerase II transcription inhibitor (PubMed:14580347, PubMed:15201869, PubMed:15713661). Core component of the 7SK RNP complex: in cooperation with 7SK snRNA sequesters P-TEFb in a large inactive 7SK snRNP complex preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation (PubMed:12832472, PubMed:14580347, PubMed:15201869, PubMed:15713661). May also regulate NF-kappa-B, ESR1, NR3C1 and CIITA-dependent transcriptional activity (PubMed:15940264, PubMed:15941832, PubMed:17088550). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728)., [UniProtKB, PubMed, PubMed, 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": 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": 14, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 10, "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": "B2R8Y5", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0004860 protein kinase inhibitor activity;GO:0017069 snRNA binding;GO:0097322 7SK snRNA binding;GO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0120259 7SK snRNP", "go_biological_process": "GO:0032897 negative regulation of viral transcription;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045087 innate immune response;GO:0002218 activation of innate immune response", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "O94992-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2K6-1", "uniprot_id": "UBP20_HUMAN", "mass": 102003.0, "length": 914, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 20", "gene_name": "USP20", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 20", "refseq_ac": "NP_001008563", "gene_names_uniprotkb": "USP20; KIAA1003; LSFR3A; VDU2", "gene_names_refseq": "LSFR3A; USP20; VDU2; hVDU2", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 20; 3.4.19.12; Deubiquitinating enzyme 20; Ubiquitin thioesterase 20; Ubiquitin-specific-processing protease 20; VHL-interacting deubiquitinating enzyme 2; hVDU2", "protein_names_refseq": "deubiquitinating enzyme 20; pVHL-interacting deubiquitinating enzyme 2; ubiquitin carboxyl-terminal hydrolase 20; ubiquitin thioesterase 20; ubiquitin thiolesterase 20; ubiquitin-specific-processing protease 20", "tax_id": 9606, "disease": "", "pathway": " (hsa:10868); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 118, "publication_id_list": "10369878;10444327;10982817;11566882;11923872;12056827;12865408;12917689;12917691;14661020;15053880;15776016;15916963;16214042;16901786;16964248;17081983;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;18669648;18691976;19015242;19135894;19188362;19363159;19398555;19424180;19651622;19838211;19874889;19910467;20068231;20096447;20228808;20368735;20501646;21239494;21362556;21406692;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23166351;23186163;23395819;23486064;23824326;23825189;24056413;24260525;24275569;24493797;24896179;25197364;25305019;25418920;25578727;25666616;26154972;26375851;26839314;26992070;27543614;27801882;27846572;27920218;28218747;28228285;28832583;28834231;29242379;29393594;29487085;29493099;29508533;29557506;29632046;30315122;30429286;30779550;31154438;31844290;32157095;32265295;32350084;32354117;32357974;32387766;32488085;32897882;32983136;33529762;33537174;33792613;33968037;34357683;34509645;35051231;35063767;35580925;36010968;37311534;37938771;7578059", "class_list": "", "function": "Deubiquitinases USP20/33 promote the biogenesis of tail-anchored membrane proteins., [RefSeq, PubMed]; Deubiquitinating enzyme that plays a role in many cellular processes including autophagy, cellular antiviral response or membrane protein biogenesis (PubMed:27801882, PubMed:29487085). Attenuates TLR4-mediated NF-kappa-B signaling by cooperating with beta-arrestin-2/ARRB2 and inhibiting TRAF6 autoubiquitination (PubMed:26839314). Promotes cellular antiviral responses by deconjugating 'Lys-33' and 'Lys-48'-linked ubiquitination of STING1 leading to its stabilization (PubMed:27801882). Plays an essential role in autophagy induction by regulating the ULK1 stability through deubiquitination of ULK1 (PubMed:29487085). Acts as a positive regulator for NF-kappa-B activation by TNF through deubiquitinating 'Lys-48'-linked polyubiquitination of SQSTM1, leading to its increased stability (PubMed:32354117). Acts as a regulator of G protein-coupled receptor (GPCR) signaling by mediating the deubiquitination beta-2 adrenergic receptor (ADRB2) (PubMed:19424180). Plays a central role in ADRB2 recycling and resensitization after prolonged agonist stimulation by constitutively binding ADRB2, mediating deubiquitination of ADRB2 and inhibiting lysosomal trafficking of ADRB2. Upon dissociation, it is probably transferred to the translocated beta-arrestins, possibly leading to beta-arrestins deubiquitination and disengagement from ADRB2 (PubMed:19424180). This suggests the existence of a dynamic exchange between the ADRB2 and beta-arrestins. Deubiquitinates DIO2, thereby regulating thyroid hormone regulation. Deubiquitinates HIF1A, leading to stabilize HIF1A and enhance HIF1A-mediated activity (PubMed:15776016). Deubiquitinates MCL1, a pivotal member of the anti-apoptotic Bcl-2 protein family to regulate its stability (PubMed:35063767). Within the endoplasmic reticulum, participates with USP33 in the rescue of post-translationally targeted membrane proteins that are inappropriately ubiquitinated by the cytosolic protein quality control in the cytosol (PubMed:33792613)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Expression, purification and characterization of the second DUSP domain of deubiquitinase USP20/VDU2., [RefSeq, PubMed]; Identification and description of VDU2 in human cells, [RefSeq, PubMed]; Phosphorylation of USP20 on Ser334 by IRAK1 promotes IL-1beta-evoked signaling in vascular smooth muscle cells and vascular inflammation., [RefSeq, PubMed]; This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubiquitinated by the VHL-E3 ligase complex, this enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 adrenergic receptor (ADRB2). This enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013]., [RefSeq]; Von Hippel-Lindau protein-interacting deubiquitinating enzyme 2 (VDU2) deubiquitinates and stabilizes HIF-1alpha., [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": 15, "reported_mutagensis": 2, "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": "Q541F1;Q8IXQ1;Q96LG5;Q9UQN8;Q9UQP0", "ec_number_list": "3.4.19.12", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0001664 G protein-coupled receptor binding;GO:0004197 cysteine-type endopeptidase activity;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005813 centrosome;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0006508 proteolysis;GO:0006897 endocytosis;GO:0007399 nervous system development;GO:0016579 protein deubiquitination;GO:0070536 protein K63-linked deubiquitination", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q9Y2K6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51504-1", "uniprot_id": "ZNF80_HUMAN", "mass": 31224.0, "length": 273, "protein_name": "Zinc finger protein 80", "gene_name": "ZNF80", "organism": "Human", "refseq_name": "zinc finger protein 80", "refseq_ac": "NP_009067", "gene_names_uniprotkb": "ZNF80", "gene_names_refseq": "ZNF80; pT17", "protein_names_uniprotkb": "Zinc finger protein 80; ZNFpT17", "protein_names_refseq": "ZNFPT17; zinc finger protein 80", "tax_id": 9606, "disease": "", "pathway": " (hsa:7634)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "28489076;30379171;32983136;7659503;8478004", "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": 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": "Q6NSW4;Q6NT14", "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_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": 0.8, "record_id": "P51504-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYV8-1", "uniprot_id": "CEP41_HUMAN", "mass": 41368.0, "length": 373, "protein_name": "Centrosomal protein of 41 kDa", "gene_name": "CEP41", "organism": "Human", "refseq_name": "centrosomal protein of 41 kDa isoform 2", "refseq_ac": "NP_001244087", "gene_names_uniprotkb": "CEP41; TSGA14", "gene_names_refseq": "CEP41; JBTS15; TSGA14", "protein_names_uniprotkb": "Centrosomal protein of 41 kDa; Cep41; Testis-specific gene A14 protein", "protein_names_refseq": "centrosomal protein 41 kDa; centrosomal protein 41kDa; centrosomal protein of 41 kDa isoform 2; centrosomal protein of 41 kDa; testis specific protein A14; testis specific, 14; testis-specific gene A14 protein", "tax_id": 9606, "disease": "Joubert syndrome 15 (Disease Ontology:DOID:0110984)", "pathway": " (hsa:95681); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 127, "publication_id_list": "11076968;11237011;11956313;12034494;12207013;12221128;12364337;12852856;13678582;14580337;14654843;15498487;15705883;16357211;16462731;16890155;17574030;17646400;17719545;18037885;18378770;18477460;18521620;18566290;18615013;18694559;18801063;19004860;19081074;19651622;19940019;20230748;20308558;20399632;20558667;21273506;21347367;21422230;21438139;21548880;21565611;21620453;21725307;21792235;22094468;22179047;22246503;22365832;22433857;22456293;22641346;22653444;23141531;23141541;23253480;23348840;23400999;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24469809;24714562;24982133;25047611;25313408;25532896;25576301;25645385;25880248;26728094;26992070;27600516;27846572;28063628;28228285;28514659;28649982;28832583;28834231;29242379;29314611;29393594;29493099;29508533;29557506;29632046;29786170;30315122;30379171;30429286;30524438;30664616;31217245;31844290;31885126;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33392160;33402344;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34185709;35051231;35580925;36010968;37938771;40596516;7769006;7790358;8838651", "class_list": "", "function": "CEP41-mediated ciliary tubulin glutamylation drives angiogenesis through AURKA-dependent deciliation., [RefSeq, PubMed]; In cortices, the MEST promoter was hemimethylated, as expected for a differentially methylated imprinting control region, whereas the COPG2 and TSGA14 promoters were completely demethylated, typical for transcriptionally active non-imprinted genes., [RefSeq, PubMed]; Missense variants in one gene, CEP41, associated significantly with Autism Spectrum Disorder (ASD). Homozygous gene-disrupting variants in CEP41 were initially found to be responsible for recessive Joubert syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating in the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [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": 5, "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": "A4D1M0;B4DQ35;F5H0V6;Q7Z496;Q86TM1;Q8NFU8;Q9H6A3;Q9NPV3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005929 cilium;GO:0016020 membrane;GO:0005814 centriole", "go_biological_process": "GO:0015031 protein transport;GO:0060271 cilium assembly;GO:0018095 protein polyglutamylation;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "Q9BYV8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6BCY4-1", "uniprot_id": "NB5R2_HUMAN", "mass": 31458.0, "length": 276, "protein_name": "NADH-cytochrome b5 reductase 2", "gene_name": "CYB5R2", "organism": "Human", "refseq_name": "NADH-cytochrome b5 reductase 2 isoform 1", "refseq_ac": "NP_001289755", "gene_names_uniprotkb": "CYB5R2", "gene_names_refseq": "B5R.2; CYB5R2", "protein_names_uniprotkb": "NADH-cytochrome b5 reductase 2; 1.6.2.2; b5R.2", "protein_names_refseq": "NADH-cytochrome b5 reductase 2 isoform 1; NADH-cytochrome b5 reductase 2; cytochrome b5 reductase b5R.2", "tax_id": 9606, "disease": "methemoglobinemia (Disease Ontology:DOID:10783)", "pathway": " (hsa:51700); (R-HSA-1237044)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10090333;10529219;10611283;11237011;11606574;12754312;12933803;1311094;1395;14958;15131110;15501038;1554744;15858218;16563834;16992238;16994616;17012249;17081983;17712059;17990881;19273840;19668749;20162361;20230836;20877624;21041929;2111324;234739;24338690;25937211;26323991;28832583;29242379;29532410;29769354;3080418;3136125;31844290;32350084;33717175;34978518;35051231;35820466;4514311;4647257;4975618;4994926;5656372;6407977;6433979;6819139;8070313;8300612;8875343;8972395;9054574;9143858;9336012;9486145", "class_list": "", "function": "CYB5R2 is a key enzyme involved in the mediation of NADH-induced redox activity in human spermatozoa., [RefSeq, PubMed]; Findings suggest that CYB5R2 may be a functional tumor suppressor gene, frequently inactivated by hypermethylation of its promoter in nasopharyngeal carcinoma, [RefSeq, PubMed]; Intratumoral Heterogeneity for Inactivating Frameshift Mutation of CYB5R2 Gene in Colorectal Cancers., [RefSeq, PubMed]; Long non-coding RNA MEG3 inhibits neovascularization in diabetic retinopathy by regulating microRNA miR-6720-5p and cytochrome B5 reductase 2., [RefSeq, PubMed]; NADH-Cytochrome B5 reductase 2 suppresses retinal vascular dysfunction through regulation of vascular endothelial growth factor A in diabetic retinopathy., [RefSeq, PubMed]; NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction (By similarity). Responsible for NADH-dependent lucigenin chemiluminescence in spermatozoa by reducing both lucigenin and 2-[4-iodophenyl]-3-[4-nitrophenyl]-5-[2,4-disulfophenyl]-2H tetrazolium monosodium salt (WST-1)., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Study showed that multifocal or multicentric glioblastomas have some underlying genetic and epigenetic characteristics that are associated with poor prognosis and that CYB5R2 is a new epigenetic marker for glioblastoma prognosis, [RefSeq, PubMed]; The protein encoded by this gene belongs to the flavoprotein pyridine nucleotide cytochrome reductase family of proteins. Cytochrome b-type NAD(P)H oxidoreductases are implicated in many processes including cholesterol biosynthesis, fatty acid desaturation and elongation, and respiratory burst in neutrophils and macrophages. Cytochrome b5 reductases have soluble and membrane-bound forms that are the product of alternative splicing. In animal cells, the membrane-bound form binds to the endoplasmic reticulum, where it is a member of a fatty acid desaturation complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 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": 2, "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": "Q9BVA3;Q9UF68;Q9UHJ0", "ec_number_list": "1.6.2.2", "go_molecular_function": "GO:0071949 FAD binding;GO:0004128 cytochrome-b5 reductase activity, acting on NAD(P)H;GO:0090524 cytochrome-b5 reductase activity, acting on NADH", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0016126 sterol biosynthetic process;GO:0015701 bicarbonate transport", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q6BCY4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5R6-1", "uniprot_id": "DMRT1_HUMAN", "mass": 39473.0, "length": 373, "protein_name": "Doublesex- and mab-3-related transcription factor 1", "gene_name": "DMRT1", "organism": "Human", "refseq_name": "doublesex- and mab-3-related transcription factor 1 isoform 1", "refseq_ac": "NP_068770", "gene_names_uniprotkb": "DMRT1; DMT1", "gene_names_refseq": "CT154; DMRT1; DMT1", "protein_names_uniprotkb": "Doublesex- and mab-3-related transcription factor 1; DM domain expressed in testis protein 1", "protein_names_refseq": "DM domain expressed in testis 1; DM domain expressed in testis protein 1; doublesex- and mab-3-related transcription factor 1 isoform 1", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); immunodeficiency 133 (Disease Ontology:DOID:0061096); 46,XY sex reversal 4 (Disease Ontology:DOID:0111771); pre-eclampsia (Disease Ontology:DOID:10591); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); gestational diabetes (Disease Ontology:DOID:11714); autosomal dominant cerebellar ataxia (Disease Ontology:DOID:1441); testicular germ cell cancer (Disease Ontology:DOID:5557); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1761); (R-HSA-9690406)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10332030;10857744;11207191;11237011;11278460;15889150;16617334;18445271;20543847;21048976;21412441;22899867;23436708;28472341;29557506;30067948;30272154;30410026;30552336;31844290;35051231;35580925;36572623;37709822;39432160;9490411;9718346;9774680;9815658", "class_list": "", "function": "DMRT1 is required for testicular differentiation in humans. DMRT1 repression results in alterations in expression of key genes involved in gonadal development. Repression of DMRT1 results in focal dysgenesis in the human fetal testis, [RefSeq, PubMed]; DMRT1 regulates human germline commitment., [RefSeq, PubMed]; Diversity of transactivation regions of DMRT1 in vertebrates. Publication Status: Online-Only, [RefSeq, PubMed]; Functional assessment of DMRT1 variants and their pathogenicity for isolated male infertility., [RefSeq, PubMed]; Report differential expression of DMRT1 in normal human spermatogenesis, testicular mixed germ cell-sex cord stromal tumor, spermatocytic tumor, and seminoma., [RefSeq, PubMed]; This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that plays a key role in male sex determination and differentiation by controlling testis development and male germ cell proliferation. Plays a central role in spermatogonia by inhibiting meiosis in undifferentiated spermatogonia and promoting mitosis, leading to spermatogonial development and allowing abundant and continuous production of sperm. Acts both as a transcription repressor and activator: prevents meiosis by restricting retinoic acid (RA)-dependent transcription and repressing STRA8 expression and promotes spermatogonial development by activating spermatogonial differentiation genes, such as SOHLH1. Also plays a key role in postnatal sex maintenance by maintaining testis determination and preventing feminization: represses transcription of female promoting genes such as FOXL2 and activates male-specific genes. May act as a tumor suppressor. May also play a minor role in oogenesis (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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "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": "B2R913;Q6T1H8;Q6T1H9;Q8IW77", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0042802 identical protein binding;GO:0046872 metal 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:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0046661 male sex differentiation;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:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9Y5R6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92556-1", "uniprot_id": "ELMO1_HUMAN", "mass": 83829.0, "length": 727, "protein_name": "Engulfment and cell motility protein 1", "gene_name": "ELMO1", "organism": "Human", "refseq_name": "engulfment and cell motility protein 1 isoform 2", "refseq_ac": "NP_001034548", "gene_names_uniprotkb": "ELMO1; KIAA0281", "gene_names_refseq": "CED-12; CED12; ELMO-1; ELMO1", "protein_names_uniprotkb": "Engulfment and cell motility protein 1; Protein ced-12 homolog", "protein_names_refseq": "ced-12 homolog 1; engulfment and cell motility protein 1 isoform 2; engulfment and cell motility protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9844); (R-HSA-164944); (R-HSA-2029482); (R-HSA-4420097); (R-HSA-8849471); (R-HSA-9664422); (R-HSA-9958810)", "pathway_count": 7, "publication_count": 213, "publication_id_list": "10037737;10075701;10207622;10219243;10395673;10496324;10544125;10559936;10607567;10618429;10677529;10692392;10724160;10744763;10749680;10781580;10878810;10995437;11007481;11070003;11157975;11160719;11230166;11231582;11237011;11276226;11278486;11329366;11340081;11553796;11595183;11695992;11696015;11747816;11804587;11829459;11854399;12029088;12055636;12105426;12134158;12189515;12213210;12214271;12215529;12235133;12391143;12464388;12660731;12743368;12787671;12810700;12820653;12829596;1314888;14517306;14676198;14724572;14737186;15026417;15040784;15247219;15308668;15452139;15572663;15592455;15657136;15688067;15695828;15793258;15952790;15962004;16188976;16262445;16282498;16308318;16336962;16546099;16641196;16702231;16760434;16880808;16966330;16979207;17030947;17188549;17199126;17202194;17237347;17293873;17308335;17686471;17881735;18070890;18391171;18653540;18829532;19230644;19267251;19608861;19741094;19955216;20658524;20869035;21037092;21419341;21445309;22084245;22323579;22327215;22689825;23216836;23443682;23481700;23675550;24567399;24715725;2474607;25418920;25576301;25645385;25892735;25938342;26154972;26205662;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28278510;28514659;28832583;28834231;28904123;29242379;29356040;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30429286;30524438;31154438;31217245;31530632;31844290;31848261;31937595;32265295;32350084;32357974;32387766;32488085;32502341;32651375;32897882;32983136;33141586;33298915;33592498;33633747;33717175;33912179;33936100;34019948;34171305;34357683;34405274;34561969;35051231;35561310;35580925;36284347;36310143;36581221;36932164;37594641;38277369;38750717;38857861;40914422;7509446;7848918;7859737;8599760;8617235;8809042;8986718;9024665;9099726;9179496;9182576;9219684;9302992;9351809;9393975;9398617;9407060;9472046;9600938;9705280;9799231;9843499;9883880;9885284", "class_list": "", "function": "Acetylation of ELMO1 correlates with Rac1 activity and colorectal cancer progress., [RefSeq, PubMed]; Association between ELMO1 gene polymorphisms and diabetic kidney disease: A systematic review and meta-analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Dock180 ELMO complex functions as an unconventional two-part exchange factor for Rac., [RefSeq, PubMed]; Engulfment and cell motility protein 1 fosters reprogramming of tumor-associated macrophages in colorectal cancer., [RefSeq, PubMed]; Regulates the activity of DOCK guanine nucleotide exchange factors (GEFs) (PubMed:11595183, PubMed:12134158, PubMed:32651375, PubMed:38857861). Acts in association with DOCK1, DOCK2, DOCK5 and CRK (PubMed:11595183, PubMed:12134158, PubMed:32651375, PubMed:38857861). Promotes RAC1 activation by DOCK5; the activity is stimulated by RHOG (PubMed:38857861). Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility (PubMed:11595183)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The Potential Impact of MYH9 (rs3752462) and ELMO1 (rs741301) Genetic Variants on the Risk of Nephrotic Syndrome Incidence., [RefSeq, PubMed]; The association of DOCK2 with ELMO1 is critical for DOCK2-mediated Rac activation, thereby suggesting that their association might be a therapeutic target for immunologic disorders caused by lymphocyte infiltration, [RefSeq, PubMed]; These results indicate that ELMO1 is a novel candidate gene that both confers susceptibility to diabetic nephropathy and plays an important role in the development and progression of this disease. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. 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": 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": 4, "reported_glycation": 0, "reported_snv": 23, "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": "A4D1X6;Q29R79;Q6ZTJ0;Q96PB0;Q9H0I1", "ec_number_list": "", "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0160124 guanyl nucleotide exchange factor activator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006911 phagocytosis, engulfment;GO:0007015 actin filament organization;GO:0006915 apoptotic process;GO:0030036 actin cytoskeleton organization;GO:0016601 Rac protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 21.6, "record_id": "Q92556-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95057-1", "uniprot_id": "DIRA1_HUMAN", "mass": 22329.0, "length": 198, "protein_name": "GTP-binding protein Di-Ras1", "gene_name": "DIRAS1", "organism": "Human", "refseq_name": "GTP-binding protein Di-Ras1", "refseq_ac": "NP_660156", "gene_names_uniprotkb": "DIRAS1; GBTS1; RIG", "gene_names_refseq": "DIRAS1; Di-Ras1; GBTS1; RIG", "protein_names_uniprotkb": "GTP-binding protein Di-Ras1; Distinct subgroup of the Ras family member 1; Ras-related inhibitor of cell growth; Rig; Small GTP-binding tumor suppressor 1", "protein_names_refseq": "DIRAS family, GTP-binding RAS-like 1; GTP-binding protein Di-Ras1; distinct subgroup of the Ras family member 1; ras-related inhibitor of cell growth; small GTP-binding tumor suppressor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:148252)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;12107278;12194967;23436800;26814130;26992070;28223533;28834231;32502341;32938616;35413492;36241641;37149695;38372700", "class_list": "", "function": "A novel Ras-related protein and potential neural tumor suppressor (RIG), [RefSeq, PubMed]; Analysis of the function and mechanism of DIRAS1 in osteosarcoma., [RefSeq, PubMed]; DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]., [RefSeq]; DIRAS1 downregulation is associated with esophageal squamous cell carcinoma metastasis., [RefSeq, PubMed]; DiRas1 expression inhibits malignant features of cancers in part by nonproductively binding to SmgGDS and inhibiting the binding of other small GTPases to SmgGDS Erratum:[J Biol Chem. 2016 May 13;291(20):10948. doi: 10.1074/jbc.A115.696831. PMID: 27197236], [RefSeq, PubMed]; Displays low GTPase activity and exists predominantly in the GTP-bound form., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Entorhinal cortex epigenome-wide association study highlights four novel loci showing differential methylation in Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; M6A modification regulates tumor suppressor DIRAS1 expression in cervical cancer cells., [RefSeq, PubMed]; This neuronal DIRAS1 gene with a proposed role in cholinergic transmission provides not only a candidate for human myoclonic epilepsy but also insights into the disease etiology, while establishing a spontaneous model for future intervention studies and functional characterization., [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": "", "ec_number_list": "", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007264 small GTPase-mediated signal transduction;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "O95057-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P43362-1", "uniprot_id": "MAGA9_HUMAN", "mass": 35088.0, "length": 315, "protein_name": "Melanoma-associated antigen 9", "gene_name": "MAGEA9B; MAGEA9", "organism": "Human", "refseq_name": "melanoma-associated antigen 9", "refseq_ac": "NP_001074259", "gene_names_uniprotkb": "MAGEA9B; MAGEA9; MAGE9; MAGEA9A", "gene_names_refseq": "MAGEA9B", "protein_names_uniprotkb": "Melanoma-associated antigen 9; CT1.9; Cancer/testis antigen 1.9; MAGE-9 antigen", "protein_names_refseq": "CT1.9; MAGE-9 antigen; cancer/testis antigen 1.9; melanoma antigen family A, 9B; melanoma antigen family A9B; melanoma-associated antigen 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:4108); (hsa:728269)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "11237011;11560998;20598277;25645385;25892735;27893789;28218747;28228285;30315122;30410026;31217245;31844290;32157095;32938616;33298915;34290406;35874702;36010968;36241641;36589698;36768214;7927540;9147653", "class_list": "", "function": "MAGEA9B is a duplication of the MAGEA9 gene (MIM 300342) on chromosome Xq28. The 2 copies are separated by about 194 kb (Hartz, 2009).[supplied by OMIM, Mar 2009]., [RefSeq]; Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression., [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": "A8K8A7;Q7Z5K4;Q92910", "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", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "P43362-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2J2-1", "uniprot_id": "E41L3_HUMAN", "mass": 120678.0, "length": 1087, "protein_name": "Band 4.1-like protein 3", "gene_name": "EPB41L3", "organism": "Human", "refseq_name": "band 4.1-like protein 3 isoform 2", "refseq_ac": "NP_001268462", "gene_names_uniprotkb": "EPB41L3; DAL1; KIAA0987", "gene_names_refseq": "4.1B; DAL-1; DAL1; EPB41L3", "protein_names_uniprotkb": "Band 4.1-like protein 3; 4.1B; DAL-1; Differentially expressed in adenocarcinoma of the lung protein 1; Erythrocyte membrane protein band 4.1-like 3", "protein_names_refseq": "band 4.1-like protein 3 isoform 2; band 4.1-like protein 3; differentially expressed in adenocarcinoma of the lung protein 1", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); prostate cancer (Disease Ontology:DOID:10283); Parkinson's disease (Disease Ontology:DOID:14330); meningioma (Disease Ontology:DOID:3565); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); congestive heart failure (Disease Ontology:DOID:6000); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:23136); (R-HSA-6794361); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 4, "publication_count": 81, "publication_id_list": "10025409;10821263;11163272;11237011;11604393;12234973;15116094;15118850;15334060;15345747;15540461;15737618;16242404;16420693;16624946;16846852;16964243;17081983;17897391;18077418;18088087;18510355;18812509;18829961;19413330;19415658;19664994;20058876;20064387;20064388;20068231;20166139;20519524;21131357;21282647;21406692;23481700;24275569;24397554;25378172;25576301;25645385;26768311;26811146;26992070;28657654;29393594;29557506;29741879;29786170;30429286;31217245;31844290;32119511;32157095;32387766;32938616;32983136;33123756;33214551;33981976;34019948;34579655;34657240;34725712;35051231;35138101;35494241;35569139;35580925;35619332;36284347;37938771;38665916;7695896;7736595;8576240;9069287;9808458;9892180;9927700", "class_list": "", "function": "DAL-1/4.1B promotes the uptake of exosomes in lung cancer cells via Heparan Sulfate Proteoglycan 2 (HSPG2)., [RefSeq, PubMed]; Methylation of HPV16 and EPB41L3 in oral gargles and the detection of early and late oropharyngeal cancer., [RefSeq, PubMed]; Over-expression of EPB41L3 promotes apoptosis of human cervical carcinoma cells through PI3K/AKT signaling., [RefSeq, PubMed]; The rs9953490 polymorphism of DAL-1 gene is associated with gastric cancer risk in the Han population in Northeast China. Publication Status: Online-Only, [RefSeq, PubMed]; Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of protein arginine N-methyltransferases, including PRMT3 and PRMT5., [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": 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": 24, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 7, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B7Z4I5;F5GX05;O95713;Q9BRP5", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0005200 structural constituent of cytoskeleton;GO:0106006 cytoskeletal protein-membrane anchor activity;GO:0008092 cytoskeletal protein binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0006915 apoptotic process;GO:0048812 neuron projection morphogenesis;GO:0031032 actomyosin structure organization;GO:0008360 regulation of cell shape", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q9Y2J2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14490-1", "uniprot_id": "DLGP1_HUMAN", "mass": 108873.0, "length": 977, "protein_name": "Disks large-associated protein 1", "gene_name": "DLGAP1", "organism": "Human", "refseq_name": "disks large-associated protein 1 isoform 5", "refseq_ac": "NP_001229692", "gene_names_uniprotkb": "DLGAP1; DAP1; GKAP", "gene_names_refseq": "DAP-1-ALPHA; DAP-1-BETA; DAP-1; DAP1; DLGAP1A; DLGAP1B; DLGAP1; GKAP; SAPAP1", "protein_names_uniprotkb": "Disks large-associated protein 1; DAP-1; Guanylate kinase-associated protein; PSD-95/SAP90-binding protein 1; SAP90/PSD-95-associated protein 1; SAPAP1; hGKAP", "protein_names_refseq": "PSD-95/SAP90 binding protein 1; SAP90/PSD-95-associated protein 1; discs large homolog associated protein 1; disks large-associated protein 1 isoform 5; disks large-associated protein 1; guanylate kinase-associated protein", "tax_id": 9606, "disease": "urinary tract infection (Disease Ontology:DOID:0080784); pyelonephritis (Disease Ontology:DOID:11400); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:9229); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "11237011;11604393;15345747;15540461;16242404;16624946;16846852;17897391;18812509;18829961;20064387;20064388;20519524;21282647;22117215;25378172;26375851;28657654;28832583;29242379;29557506;31844290;32157095;32350084;32502341;33912179;33968037;34171305;34593835;34866525;35051231;35251023;35449318;38808484;38821626;7695896;7736595;8576240;9024696;9069287;9286858;9808458;9927700", "class_list": "", "function": "A genome-wide association study identifies a novel candidate locus at the DLGAP1 gene with susceptibility to resistant hypertension in the Japanese population. Publication Status: Online-Only, [RefSeq, PubMed]; DLGAP1-AS2 promotes estrogen receptor signalling and confers tamoxifen resistance in breast cancer., [RefSeq, PubMed]; Deciphering the Role of miR-30a-5p and DLGAP1 Gene in Non-small Cell Lung Cancer., [RefSeq, PubMed]; N(6)-methyladenosine (m(6)A)-mediated lncRNA DLGAP1-AS1enhances breast canceradriamycin resistance through miR-299-3p/WTAP feedback loop., [RefSeq, PubMed]; Part of the postsynaptic scaffold in neuronal cells., [UniProtKB]; Whole Genome Linkage and Association Analyses Identify DLG Associated Protein-1 as a Novel Positional and Biological Candidate Gene for Muscle Strength: The Long Life Family Study., [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": 24, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "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": "A8MWN8;B2RMU8;B7WPA1;B7Z2H2;B7Z2I2;B7Z9Y4;O14489;P78335", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0099572 postsynaptic specialization", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0050804 modulation of chemical synaptic transmission;GO:0023052 signaling", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "O14490-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T9S5-1", "uniprot_id": "CCD18_HUMAN", "mass": 168962.0, "length": 1454, "protein_name": "Coiled-coil domain-containing protein 18", "gene_name": "CCDC18", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 18 isoform a", "refseq_ac": "NP_001293005", "gene_names_uniprotkb": "CCDC18", "gene_names_refseq": "CCDC18; NY-SAR-41", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 18; Sarcoma antigen NY-SAR-24", "protein_names_refseq": "coiled-coil domain-containing protein 18 isoform a; coiled-coil domain-containing protein 18; sarcoma antigen NY-SAR-24; sarcoma antigen NY-SAR-41", "tax_id": 9606, "disease": "", "pathway": " (hsa:343099)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;15275975;23186163;23481700;23783831;24366607;25576301;26638075;26992070;27846572;28228285;28832583;28904123;29242379;31154438;31530632;31844290;32157095;32350084;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33968037;33981976;34171305;34211107;34509645;34932366;35051231;35494241;36010968;36215666", "class_list": "", "function": "May promote pre-adipocyte differentiation., [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": 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": "Q6ZU17", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0034451 centriolar satellite;GO:0005737 cytoplasm", "go_biological_process": "GO:1904179 positive regulation of adipose tissue development", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q5T9S5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96N67-1", "uniprot_id": "DOCK7_HUMAN", "mass": 242561.0, "length": 2140, "protein_name": "Dedicator of cytokinesis protein 7", "gene_name": "DOCK7", "organism": "Human", "refseq_name": "dedicator of cytokinesis protein 7 isoform 1", "refseq_ac": "NP_001258928", "gene_names_uniprotkb": "DOCK7; KIAA1771", "gene_names_refseq": "DEE23; DOCK7; EIEE23; ZIR2", "protein_names_uniprotkb": "Dedicator of cytokinesis protein 7", "protein_names_refseq": "dedicator of cytokinesis protein 7 isoform 1; dedicator of cytokinesis protein 7", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 23 (Disease Ontology:DOID:0080415); platelet storage pool deficiency (Disease Ontology:DOID:2223)", "pathway": " (hsa:85440); (R-HSA-8875555); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-983231)", "pathway_count": 5, "publication_count": 400, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618718;10699171;10699464;10724160;10753869;10871282;10873802;10958683;11007481;11042108;11058585;11062261;11085924;11146548;11149925;11237011;11242053;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11707441;11744692;11751636;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11895428;11912491;11948177;11950885;11961559;12006644;12032298;12071859;12093360;12096337;12134158;12138161;12172552;12195014;12221096;12351724;12427746;12432077;12464619;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14654843;14675773;14718541;15020713;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15247287;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15710388;15728722;15850391;15858067;15897194;15963462;16002401;16054028;16112081;16116428;16184169;16217026;16243036;1630448;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16777452;16777849;16849525;16862148;16896804;16914516;16968698;16982419;17027967;17064668;17077126;17145773;17196961;17214551;17244649;17525332;17583407;17599059;17702745;17765681;17804252;17932950;17976533;18006505;18045877;18056264;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18669648;18786931;18835169;18838382;18929667;19269969;19293402;19494238;19605563;19608861;19673492;19690332;19713215;19934221;20068231;20400958;20460433;20530532;20627800;20679435;20810653;21148482;21406692;21454492;21542010;21565175;21613211;21685891;21730051;21865595;218813;21989057;22004470;22096251;22298643;22407364;22461490;22475431;22571869;22608513;22734669;22970203;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23707487;23718289;23940355;24086303;24129315;24259668;24275569;24335996;24352656;24397554;24518591;24584464;24715725;24814191;24859002;24933155;24960694;24996924;25024229;25211221;25418920;25428919;25576301;25645385;25704760;25721503;25795300;25862245;25963737;26129894;26154972;26299518;26375851;26529257;26598554;26811146;26845023;26887924;26929215;26992070;27096001;27117132;27145964;27216196;27397612;27481945;27555588;27566826;27600516;27713499;27798618;27806292;27812135;27846572;27920218;28028151;28063628;28114311;28196833;28218747;28228285;28657654;28825699;28832583;28834231;28860633;28904123;29089502;29242379;29331515;29358323;29371260;29382922;29393594;29437277;29467281;29508533;29557506;29632046;29786170;30061681;30315122;30379171;30410026;30418433;30484775;30524438;30779550;30853411;31154438;31217245;31530632;31844290;31848261;31871319;31998317;32119511;32157095;32161166;32203420;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33704464;33717175;33912179;33936100;33968037;33981976;34087483;3409321;34171305;34185709;34405274;34509645;34561969;34725712;34932366;35051231;35254053;35580925;36010968;36215666;36284347;37217939;37938771;38385857;38665916;39302247;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662638;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8816476;8939998;8990121;8994827;9013646;9065479;9099726;9113980;9230307;9268338;9305890;9326583;9331217;9405671;9422515;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9822598;9829970;9843499;9846874;9927674;9988689", "class_list": "", "function": "Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 'Ser-15' phosphorylation during axon formation and consequently for neuronal polarization (PubMed:16982419). As part of the DISP complex, may regulate the association of septins with actin and thereby regulate the actin cytoskeleton (PubMed:29467281). Has a role in pigmentation (By similarity). Involved in the regulation of cortical neurogenesis through the control of radial glial cells (RGCs) proliferation versus differentiation; negatively regulates the basal-to-apical interkinetic nuclear migration of RGCs by antagonizing the microtubule growth-promoting function of TACC3 (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]., [RefSeq]; Tumour-associated macrophage-derived DOCK7-enriched extracellular vesicles drive tumour metastasis in colorectal cancer via the RAC1/ABCA1 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": 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": 26, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "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": "Q00M63;Q2PPY7;Q45RE8;Q45RE9;Q5T1B9;Q5T1C0;Q6ZV32;Q8TB82;Q96NG6;Q96NI0;Q9C092", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005925 focal adhesion;GO:0030424 axon;GO:0030426 growth cone;GO:0045178 basal part of cell;GO:0043005 neuron projection", "go_biological_process": "GO:0007409 axonogenesis;GO:0031175 neuron projection development;GO:0016601 Rac protein signal transduction;GO:0035023 regulation of Rho protein signal transduction;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 40.5, "record_id": "Q96N67-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8ND76-1", "uniprot_id": "CCNY_HUMAN", "mass": 39337.0, "length": 341, "protein_name": "Cyclin-Y", "gene_name": "CCNY", "organism": "Human", "refseq_name": "cyclin-Y isoform 3", "refseq_ac": "NP_001269781", "gene_names_uniprotkb": "CCNY; C10orf9; CBCP1; CFP1", "gene_names_refseq": "C10orf9; CBCP1; CCNX; CCNY; CFP1", "protein_names_uniprotkb": "Cyclin-Y; Cyc-Y; Cyclin box protein 1; Cyclin fold protein 1; cyclin-X", "protein_names_refseq": "cyc-Y; cyclin box protein 1; cyclin fold protein 1; cyclin-X; cyclin-Y isoform 3; cyclin-box carrying protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:219771)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "11237011;15302935;16385451;17081983;18060517;18088087;18452278;18578522;18669648;18767875;19367720;19413330;19415658;19524571;19651622;19664994;20058876;20059949;20068231;20166139;21406692;22184064;23186163;24275569;24794231;25576301;26205494;26992070;27821587;27862975;28057719;28832583;29242379;29393594;29557506;29786170;31154438;31217245;31844290;31848261;32098961;32897882;32983136;33039146;33153214;33912179;33968037;34357683;35051231;35494241;35580925;36010968;36576166", "class_list": "", "function": "Cyclin Y binds and activates CDK4 to promote the G1/S phase transition in hepatocellular carcinoma cells via Rb signaling., [RefSeq, PubMed]; Cyclin Y is expressed in Platelets and Modulates Integrin Outside-in Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Cyclins, such as CCNY, control cell division cycles and regulate cyclin-dependent kinases (e.g., CDC2; MIM 116940) (Li et al., 2009 [PubMed 18060517]).[supplied by OMIM, May 2009]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Positive regulatory subunit of the cyclin-dependent kinases CDK14/PFTK1 and CDK16. Acts as a cell-cycle regulator of Wnt signaling pathway during G2/M phase by recruiting CDK14/PFTK1 to the plasma membrane and promoting phosphorylation of LRP6, leading to the activation of the Wnt signaling pathway. Recruits CDK16 to the plasma membrane. Isoform 3 might play a role in the activation of MYC-mediated transcription., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The role of cyclin Y in normal and pathological cells. 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": 25, "reported_mutagensis": 2, "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": "B7ZKX9;D3DRY9;Q2M3V4;Q2TU96;Q6NT86;Q7Z4U7;Q8TEX2;Q8TEX3;Q96M99;Q96P45", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity;GO:0061575 cyclin-dependent protein serine/threonine kinase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005886 plasma membrane;GO:0000308 cytoplasmic cyclin-dependent protein kinase holoenzyme complex", "go_biological_process": "GO:0007283 spermatogenesis;GO:0051301 cell division;GO:0000086 G2/M transition of mitotic cell cycle;GO:0010508 positive regulation of autophagy;GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q8ND76-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BWL3-1", "uniprot_id": "LTAP1_HUMAN", "mass": 28779.0, "length": 253, "protein_name": "Lipid transport auxiliary protein 1", "gene_name": "LTAP1", "organism": "Human", "refseq_name": "lipid transport auxiliary protein 1 isoform 3", "refseq_ac": "NP_001092086", "gene_names_uniprotkb": "LTAP1; C1orf43; HSPC012; NICE3; NS5ATP4", "gene_names_refseq": "C1orf43; HSPC012; LTAP1; NICE-3; NICE3; NS5ATP4; S863-3", "protein_names_uniprotkb": "Lipid transport auxiliary protein 1; HCV NS5A-transactivated protein 4; Hepatitis C virus NS5A-transactivated protein 4; Protein NICE-3; S863-3; Spigot ortholog", "protein_names_refseq": "HCV NS5A-transactivated protein 4; hepatitis C virus NS5A-transactivated protein 4; lipid transport auxiliary protein 1 isoform 3; spigot ortholog; uncharacterized protein C1orf43", "tax_id": 9606, "disease": "", "pathway": " (hsa:25912)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "10.1101/2023.09.13.557529;11230159;11237011;16094384;23167344;23481700;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26811146;26992070;28063628;28228285;28446606;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29557506;29632046;29769354;29786170;30410026;30524438;30779550;31092671;31154438;31217245;31222486;31530632;31540829;31844290;31848261;31937595;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32938616;33141586;33592498;33981976;34357683;36215666;37938771;40269155", "class_list": "", "function": "Our findings indicate that NICE-3 may contribute to human hepatocellular carcinoma by promoting cell proliferation., [RefSeq, PubMed]; Required for the formation of endoplasmic reticulum-plasma membrane junctions and functions as an accessory protein for bridge-like lipid transfer protein BLTP1, participating in lipid delivery between endoplasmic reticulum and cell membranes. Regulates the phagocytosis of Gram-negative bacteria like L. pneumophila and E. coli, as well as Gram-positive bacteria such as S. aureus., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, 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": 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": 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": "A8K3G8;D3DV72;D3DV74;Q5M801;Q5VU73;Q5VU83;Q96HP7;Q9UFU2;Q9UGL7;Q9UGL8;Q9Y2R6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0140268 endoplasmic reticulum-plasma membrane contact site", "go_biological_process": "GO:0006909 phagocytosis", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9BWL3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14957-1", "uniprot_id": "NMDE3_HUMAN", "mass": 134209.0, "length": 1233, "protein_name": "Glutamate receptor ionotropic, NMDA 2C", "gene_name": "GRIN2C", "organism": "Human", "refseq_name": "glutamate receptor ionotropic, NMDA 2C isoform 1 precursor", "refseq_ac": "NP_000826", "gene_names_uniprotkb": "GRIN2C; NMDAR2C", "gene_names_refseq": "GRIN2C; GluN2C; NMDAR2C; NR2C", "protein_names_uniprotkb": "Glutamate receptor ionotropic, NMDA 2C; GluN2C; Glutamate [NMDA] receptor subunit epsilon-3; N-methyl D-aspartate receptor subtype 2C; NMDAR2C; NR2C", "protein_names_refseq": "GluN2C(alt_5'UTR_77nt); GluN2C(alt_5'UTR_87nt); GluN2C(del_e2); GluN2C-b alternative isoform; N-methyl D-aspartate receptor subtype 2C; N-methyl-D-aspartate receptor subunit 2C; glutamate [NMDA] receptor subunit epsilon-3; glutamate receptor ionotropic, NMDA 2C isoform 1 precursor; glutamate receptor ionotropic, NMDA 2C; glutamate receptor, ionotropic, N-methyl D-aspartate 2C; putative NMDtranscript(altAcc_e11); putative NMDtranscript(altDon_e4); putative NMDtranscript(del_e4)", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:2905); (R-HSA-438066); (R-HSA-6794361); (R-HSA-8849932); (R-HSA-9609736); (R-HSA-9617324); (R-HSA-9620244)", "pathway_count": 7, "publication_count": 51, "publication_id_list": "11237011;11604393;12807427;12815021;1350383;15540461;16242404;16495444;16624946;16630835;16846852;17855605;17897391;17997397;18227064;18812509;18829961;19477150;19681166;20064387;20064388;20519524;20600927;21282647;21300787;22833210;25378172;26321637;26875626;28449373;29557506;30484775;30590034;31844290;32387766;33912179;34144329;35051231;35580925;36010968;36309015;7569905;7695896;7736595;8576240;8601796;9037519;9069287;9648857;9808458;9927700", "class_list": "", "function": "Amyloid-beta (1-42) peptide induces rapid NMDA receptor-dependent alterations at glutamatergic synapses in the entorhinal cortex., [RefSeq, PubMed]; Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+) (PubMed:26875626, PubMed:36309015). Participates in synaptic plasticity for learning and memory formation by contributing to the slow phase of excitatory postsynaptic current and long-term synaptic potentiation (By similarity). Channel activation requires binding of the neurotransmitter L-glutamate to the GluN2 subunit, glycine or D-serine binding to the GluN1 subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:26875626, PubMed:36309015). NMDARs mediate simultaneously the potassium efflux and the influx of calcium and sodium (By similarity). Each GluN2 subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, Ca2(+) permeability, and binding to allosteric modulators (PubMed:26875626)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB]; 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]; Structural insights into assembly and function of GluN1-2C, GluN1-2A-2C, and GluN1-2D NMDARs., [RefSeq, PubMed]; The authors identified and cloned sequences of NMDA receptor subunits 2A, 2B, and 2C from rat. They characterized the properties of the receptors composed of heteromeric 1-2A and heteromeric 1-2C and found that the latter had reduced sensitivity to magnesium and smaller conductance compared to the former., [RefSeq, PubMed]; This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is a subtype of ionotropic glutamate receptor. NMDA receptors are found in the central nervous system, are permeable to cations and have an important role in physiological processes such as learning, memory, and synaptic development. The receptor is a tetramer of different subunits (typically heterodimer of subunit 1 with one or more of subunits 2A-D), forming a channel that is permeable to calcium, potassium, and sodium, and whose properties are determined by subunit composition. Alterations in the subunit composition of the receptor are associated with pathophysiological conditions such as Parkinson's disease, Alzheimer's disease, depression, and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]., [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": 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B2RTT1", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0005261 monoatomic cation channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0004972 NMDA glutamate receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0017146 NMDA selective glutamate receptor complex;GO:0005886 plasma membrane;GO:0045211 postsynaptic membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0098976 excitatory chemical synaptic transmission;GO:0035235 ionotropic glutamate receptor signaling pathway;GO:0060079 excitatory postsynaptic potential;GO:2000463 positive regulation of excitatory postsynaptic potential;GO:0035249 synaptic transmission, glutamatergic", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q14957-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86V24-1", "uniprot_id": "PAQR2_HUMAN", "mass": 43884.0, "length": 386, "protein_name": "Adiponectin receptor protein 2", "gene_name": "ADIPOR2", "organism": "Human", "refseq_name": "adiponectin receptor protein 2 isoform 2", "refseq_ac": "NP_078827", "gene_names_uniprotkb": "ADIPOR2; PAQR2", "gene_names_refseq": "ACDCR2; ADIPOR2; PAQR2", "protein_names_uniprotkb": "Adiponectin receptor protein 2; Progestin and adipoQ receptor family member 2; Progestin and adipoQ receptor family member II", "protein_names_refseq": "adiponectin receptor protein 2 isoform 2; adiponectin receptor protein 2; progestin and adipoQ receptor family member 2; progestin and adipoQ receptor family member II", "tax_id": 9606, "disease": "metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); alcohol-associated liver disease (Disease Ontology:DOID:0070658); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); glucose intolerance (Disease Ontology:DOID:10603); breast cancer (Disease Ontology:DOID:1612); hyperinsulinism (Disease Ontology:DOID:2018); end stage renal disease (Disease Ontology:DOID:783); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:79602); (R-HSA-163680)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10698692;12802337;12878598;14651988;15105989;15331527;15454091;16044242;23481700;24715725;25418920;25576301;25855295;25892735;25969726;26154972;26578976;26929215;26992070;27600516;27893789;28218747;28228285;28514659;28832583;28904123;29242379;29331515;29437277;29493099;29769354;30315122;30410026;31217245;31222486;31844290;31848261;32157095;32387766;32502341;32897882;32938616;33141586;33691108;33752745;33851685;33912179;33936100;33968037;34087483;34171305;34509645;34561969;34932366;35051231;35251023;35580925;36010968;36241641;36284347;36429712;37164154;38815796", "class_list": "", "function": "A link between adiponectin and bone homeostasis by demonstrating transcription, translation, and secretion of adiponectin, as well as expression of its receptors, AdipoR1 and AdipoR2, in bone-forming cells, [RefSeq, PubMed]; AdipoR2 inhibits human glioblastoma cell growth through the AMPK/mTOR pathway. Publication Status: Online-Only, [RefSeq, PubMed]; AdipoR2 recruits protein interactors to promote fatty acid elongation and membrane fluidity., [RefSeq, PubMed]; Association of Adiponectin Receptors with Metabolic and Immune Homeostasis Parameters in Colorectal Cancer: In Silico Analysis and Observational Findings. Publication Status: Online-Only, [RefSeq, PubMed]; Cloning of cDNAs encoding adiponectin receptors 1 and 2 (AdipoR1 and AdipoR2) by expression cloning [AdipoR1 & AdipoR2] Erratum:[Nature. 2004 Oct 28;431(7012):1123], [RefSeq, PubMed]; Epression levels of AdipoRw as well as plasma adiponectin concentration were lower in people with a family history of Type 2., [RefSeq, PubMed]; Here we report the marked expression of mRNAs for the adiponectin receptors AdipoR1 and AdipoR2 in human and rat pancreatic beta cells, at levels similar to liver and greater than muscle., [RefSeq, PubMed]; Myotube mRNA levels of both receptors are associated with distinct metabolic functions but not with insulin sensitivity; AdipoR1, but not AdipoR2, expression correlated with insulin secretion., [RefSeq, PubMed]; Receptor for ADIPOQ, an essential hormone secreted by adipocytes that regulates glucose and lipid metabolism (PubMed:12802337, PubMed:25855295). Required for normal body fat and glucose homeostasis. ADIPOQ-binding activates a signaling cascade that leads to increased PPARA activity, and ultimately to increased fatty acid oxidation and glucose uptake. Has intermediate affinity for globular and full-length adiponectin. Required for normal revascularization after chronic ischemia caused by severing of blood vessels (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Reduced hepatic AdipoR2 by increased glucocorticoid mediates effect of psychosocial stress to elevate serum cholesterol., [RefSeq, PubMed]; The adiponectin receptors, ADIPOR1 (MIM 607945) and ADIPOR2, serve as receptors for globular and full-length adiponectin (MIM 605441) and mediate increased AMPK (see MIM 602739) and PPAR-alpha (PPARA; MIM 170998) ligand activities, as well as fatty acid oxidation and glucose uptake by adiponectin (Yamauchi et al., 2003 [PubMed 12802337]).[supplied by OMIM, Mar 2008]., [RefSeq]; The expression and relationship of AdipoR1/R2 in gastric intestinal metaplasia., [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": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 11, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53YY5;Q9H737", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0055100 adiponectin binding;GO:0038023 signaling receptor activity;GO:0097003 adipokinetic hormone receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0019395 fatty acid oxidation;GO:0042593 glucose homeostasis;GO:0009755 hormone-mediated signaling pathway;GO:0033211 adiponectin-activated signaling pathway;GO:0061042 vascular wound healing", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q86V24-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95620-1", "uniprot_id": "DUS4L_HUMAN", "mass": 35816.0, "length": 317, "protein_name": "tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like", "gene_name": "DUS4L-BCAP29; DUS4L", "organism": "Human", "refseq_name": "tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like", "refseq_ac": "NP_001257348", "gene_names_uniprotkb": "DUS4L-BCAP29; DUS4L; DUS4L-BCAP29; DUS4L", "gene_names_refseq": "DUS4L; DUS4; PP35", "protein_names_uniprotkb": "tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like; 1.3.1.90; pp35; tRNA-dihydrouridine synthase 4-like", "protein_names_refseq": "protein similar to E.coli yhdg and R. capsulatus nifR3; tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:11062); (hsa:115253422)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "11237011;20237496;21068099;26992070;28228285;28415823;28514659;28904123;29242379;29508533;31217245;31844290;32157095;32357974;32387766;32983136;33968037;34798057;36241641;37217939;39216120", "class_list": "", "function": "Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; DUS4L suppresses invasion and metastasis in LUAD via modulation of PI3K/AKT and ERK/MAPK signaling through GRB2., [RefSeq, PubMed]; Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; We believe that in contrast to traditional gene fusions, DUS4L-BCAP29 cannot be used as a cancer biomarker. Instead, it is a fusion transcript that exists in normal physiology and that its pro-growth effect is not unique to 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": 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": "B4DLX0;Q2NKK1", "ec_number_list": "1.3.1.90", "go_molecular_function": "GO:0050660 flavin adenine dinucleotide binding;GO:0017150 tRNA dihydrouridine synthase activity;GO:0102266 tRNA-dihydrouridine20a synthase activity;GO:0102267 tRNA-dihydrouridine20b synthase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0002943 tRNA dihydrouridine synthesis;GO:0015031 protein transport;GO:0006915 apoptotic process;GO:0016192 vesicle-mediated transport;GO:0006886 intracellular protein transport", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "O95620-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A1L3X0-1", "uniprot_id": "ELOV7_HUMAN", "mass": 33356.0, "length": 281, "protein_name": "Very long chain fatty acid elongase 7", "gene_name": "ELOVL7", "organism": "Human", "refseq_name": "very long chain fatty acid elongase 7 isoform 1", "refseq_ac": "NP_001098028", "gene_names_uniprotkb": "ELOVL7", "gene_names_refseq": "ELOVL7", "protein_names_uniprotkb": "Very long chain fatty acid elongase 7; 2.3.1.199; 3-keto acyl-CoA synthase ELOVL7; ELOVL FA elongase 7; ELOVL fatty acid elongase 7; Elongation of very long chain fatty acids protein 7; Very long chain 3-ketoacyl-CoA synthase 7; Very long chain 3-oxoacyl-CoA synthase 7", "protein_names_refseq": "3-keto acyl-CoA synthase ELOVL7; ELOVL FA elongase 7; ELOVL family member 7, elongation of long chain fatty acids; elongation of very long chain fatty acids protein 7; very long chain 3-ketoacyl-CoA synthase 7; very long chain 3-oxoacyl-CoA synthase 7; very long chain fatty acid elongase 7 isoform 1; very long chain fatty acid elongase 7", "tax_id": 9606, "disease": "adrenoleukodystrophy (Disease Ontology:DOID:10588)", "pathway": " (hsa:79993); (R-HSA-75876)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10548543;10954726;11237011;11889465;12371743;12482854;12525535;12975357;15469937;16036915;16371355;17379924;17681178;17762044;18003621;18554506;18728184;19505953;19826053;20937905;21959040;25732827;29557506;30833945;31154438;32157095;32938616;33600908;33968037;33981976;34087483;34117479;34171305;34185709;36930494;38422897;8075637", "class_list": "", "function": "Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme with higher activity toward C18 acyl-CoAs, especially C18:3(n-3) acyl-CoAs and C18:3(n-6)-CoAs. Also active toward C20:4-, C18:0-, C18:1-, C18:2- and C16:0-CoAs, and weakly toward C20:0-CoA. Little or no activity toward C22:0-, C24:0-, or C26:0-CoAs. May participate in the production of saturated and polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators., [UniProtKB, PubMed, PubMed, HAMAP, PubMed, PubMed]; ELOVL fatty acid elongase 7 (ELOVL7), upregulated by Mdr2-knockout, predicts advanced liver fibrosis in patients with chronic hepatitis B., [RefSeq, PubMed]; ELOVL7 knockdown or mTOR inhibition impairs HCMV-induced fatty acid elongation., [RefSeq, PubMed]; Investigating ELOVL7 coding variants in multiple system atrophy., [RefSeq, PubMed]; Overexpression of ELOVL7 is associated with prostate cancer growth through saturated long-chain fatty acid metabolism., [RefSeq, PubMed]; Progression of the VLCFA cycle enhances ELOVL7 activity., [RefSeq, PubMed]; The structural basis of fatty acid elongation by the ELOVL elongases., [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": 5, "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": "Q589T3;Q9H5D0;Q9NT66", "ec_number_list": "2.3.1.199", "go_molecular_function": "GO:0009922 fatty acid elongase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0030148 sphingolipid biosynthetic process;GO:0035338 long-chain fatty-acyl-CoA biosynthetic process;GO:0006636 unsaturated fatty acid biosynthetic process;GO:0034625 fatty acid elongation, monounsaturated fatty acid;GO:0034626 fatty acid elongation, polyunsaturated fatty acid", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "A1L3X0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H5I1-1", "uniprot_id": "SUV92_HUMAN", "mass": 46682.0, "length": 410, "protein_name": "Histone-lysine N-methyltransferase SUV39H2", "gene_name": "SUV39H2", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase SUV39H2 isoform 1", "refseq_ac": "NP_001180353", "gene_names_uniprotkb": "SUV39H2; KMT1B", "gene_names_refseq": "KMT1B; SUV39H2", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase SUV39H2; 2.1.1.-; H3-K9-HMTase 2; Histone H3-K9 methyltransferase 2; Lysine N-methyltransferase 1B; Su(var)3-9 homolog 2; Suppressor of variegation 3-9 homolog 2", "protein_names_refseq": "H3-K9-HMTase 2; histone H3-K9 methyltransferase 2; histone methyltransferase SUV39H2; histone-lysine N-methyltransferase SUV39H2 isoform 1; histone-lysine N-methyltransferase SUV39H2; lysine N-methyltransferase 1B; su(var)3-9 homolog 2; suppressor of variegation 3-9 homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79723); (R-HSA-3214841)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10949293;11237011;11959841;12123582;12130538;12453418;12540855;12670868;14536086;14690610;14765126;14992727;15107829;15145825;15235609;15964846;16118227;16199523;16292313;16519522;16682010;16805913;16959974;17021013;17500065;17544230;17707229;18172012;18669648;19808676;20084102;21131967;21196496;21406692;21779408;21832073;22099308;22939622;23186163;24397554;25418920;25880248;26811146;26992070;27846572;27920218;28063628;28832583;28904123;29242379;29371260;29393594;29493099;29632046;29769354;29786170;30111536;30315122;31844290;32157095;32357974;32387766;32691052;33298915;33392160;33537174;33691108;33912179;34019948;34171305;34185709;35051231;36010968;36806557;41094145", "class_list": "", "function": "Epigenetic hallmarks of age-related macular degeneration are recapitulated in a photosensitive mouse model., [RefSeq, PubMed]; Histone methyltransferase that specifically mediates trimethylation of 'Lys-9' of histone H3 (H3K9me3) using monomethylated H3 'Lys-9' (H3K9me1) as substrate (PubMed:10949293). H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones (PubMed:10949293). Mainly functions in heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin at pericentric and telomere regions (PubMed:10949293). H3 'Lys-9' trimethylation is also required to direct DNA methylation at pericentric repeats (PubMed:10949293, PubMed:41094145). SUV39H2 is targeted to histone H3 via its interaction with RB1 and is involved in many processes, such as cell cycle regulation, transcriptional repression and regulation of telomere length (PubMed:14765126). May participate in regulation of higher-order chromatin organization during spermatogenesis (By similarity). Recruited by the large PER complex to the E-box elements of the circadian target genes such as PER2 itself or PER1, contributes to the conversion of local chromatin to a heterochromatin-like repressive state through H3 'Lys-9' trimethylation (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; N6-methyadenosine modified SUV39H2 regulates homologous recombination through epigenetic repression of DUSP6 in gastric 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": 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": 3, "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": "D3DRT4;Q5JSS4;Q5JSS5;Q6I9Y3;Q8ND06", "ec_number_list": "2.1.1.-;2.1.1.366;2.1.1.367;2.1.1.364", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding;GO:0046974 histone H3K9 methyltransferase activity;GO:1904047 S-adenosyl-L-methionine binding;GO:0140938 histone H3 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0005721 pericentric heterochromatin;GO:0000775 chromosome, centromeric region", "go_biological_process": "GO:0031508 pericentric heterochromatin formation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9H5I1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NA72-1", "uniprot_id": "POC5_HUMAN", "mass": 63351.0, "length": 575, "protein_name": "Centrosomal protein POC5", "gene_name": "POC5", "organism": "Human", "refseq_name": "centrosomal protein POC5 isoform 1", "refseq_ac": "NP_001092741", "gene_names_uniprotkb": "POC5; C5orf37", "gene_names_refseq": "C5orf37; POC5", "protein_names_uniprotkb": "Centrosomal protein POC5; Protein of centriole 5; hPOC5", "protein_names_refseq": "POC5 centriolar protein homolog; centrosomal protein POC5 isoform 1; centrosomal protein POC5; hPOC5; protein of centriole 5; proteome of centriole 5", "tax_id": 9606, "disease": "retinitis pigmentosa (Disease Ontology:DOID:10584)", "pathway": " (hsa:134359)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "11237011;14654843;15144186;17924679;18669648;19349582;19608861;19651622;19690332;19691289;22424782;23186163;24715725;25576301;25645385;26154972;26992070;28218747;28649982;28832583;28904123;29242379;29331515;29351928;29493099;29508533;29557506;29632046;29786170;30524438;31844290;32110738;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32946374;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34509645;34932366;35051231;35561310;35580925;36010968;36241641;36284347;37239471;37934472", "class_list": "", "function": "Differential Regulation of POC5 by ERalpha in Human Normal and Scoliotic Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Essential for the assembly of the distal half of centrioles, required for centriole elongation (PubMed:19349582, PubMed:32946374). Acts as a negative regulator of centriole elongation (PubMed:37934472)., [UniProtKB, PubMed, PubMed, PubMed]; Essential for the assembly of the distal half of centrioles, required for centriole elongation. Acts as a negative regulator of centriole elongation., [UniProtKB, UniProtKB, UniProtKB]; HPOC5, a conserved centrin-binding protein that contains Sfi1p-like repeats is characterized., [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": 0, "reported_glycation": 0, "reported_snv": 21, "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": "B4DJG7;Q494X7;Q494X9;Q6P085", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005814 centriole;GO:0032391 photoreceptor connecting cilium", "go_biological_process": "GO:1903723 negative regulation of centriole elongation;GO:0042462 eye photoreceptor cell development;GO:0061511 centriole elongation", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q8NA72-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WXH0-1", "uniprot_id": "SYNE2_HUMAN", "mass": 796442.0, "length": 6885, "protein_name": "Nesprin-2", "gene_name": "SYNE2", "organism": "Human", "refseq_name": "nesprin-2 isoform 1", "refseq_ac": "NP_055995", "gene_names_uniprotkb": "SYNE2; KIAA1011; NUA", "gene_names_refseq": "EDMD5; KASH2; NUANCE; NUA; Nesp2; Nesprin-2; SYNE-2; SYNE2; TROPH", "protein_names_uniprotkb": "Nesprin-2; KASH domain-containing protein 2; KASH2; Nuclear envelope spectrin repeat protein 2; Nucleus and actin connecting element protein; Protein NUANCE; Synaptic nuclear envelope protein 2; Syne-2", "protein_names_refseq": "KASH domain-containing protein 2; nesprin 2; nesprin-2 isoform 1; nesprin-2 spectrin repeats 3-54; nuclear envelope spectrin repeat protein 2; nucleus and actin connecting element protein; polytrophin; spectrin repeat containing, nuclear envelope 2; synaptic nuclear envelope protein 2; synaptic nuclei expressed gene 2", "tax_id": 9606, "disease": "autosomal dominant Emery-Dreifuss muscular dystrophy 5 (Disease Ontology:DOID:0070250); cryptorchidism (Disease Ontology:DOID:11383); Emery-Dreifuss muscular dystrophy (Disease Ontology:DOID:11726)", "pathway": " (hsa:23224); (R-HSA-1221632)", "pathway_count": 2, "publication_count": 141, "publication_id_list": "10.1101/2023.09.13.557529;11230166;11237011;11673449;11792814;12118075;12408964;12958361;15125634;15235794;15671068;16959974;17081983;17761684;18396275;18669648;19146767;19596800;19608861;19651622;19690332;19691289;19933576;20068231;20112406;20634189;20724637;21406692;22299025;22424782;22544926;22632968;22768332;22945352;23481700;23671687;24275569;24714562;24715725;24718612;25367160;25505266;25645385;25810538;25880248;25892735;26154972;26244732;26375851;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28649982;28716842;28832583;28834231;28855257;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29602958;29605689;29632046;29632711;29769354;29786170;29789417;30315122;30379171;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34405274;34509645;34558192;34561969;34818527;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;36930595;36959177;37217939;37938771;39534244;8794855;9008167;9285814", "class_list": "", "function": "Mena regulates nesprin-2 to control actin-nuclear lamina associations, trans-nuclear membrane signalling and gene expression. Publication Status: Online-Only, [RefSeq, PubMed]; Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning (PubMed:34818527). Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane actin-associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow during actin-dependent nuclear movement. May be involved in nucleus-centrosome attachment. During interkinetic nuclear migration (INM) at G2 phase and nuclear migration in neural progenitors its LINC complex association with SUN1/2 and probable association with cytoplasmic dynein-dynactin motor complexes functions to pull the nucleus toward the centrosome; SYNE1 and SYNE2 may act redundantly. During INM at G1 phase mediates respective LINC complex association with kinesin to push the nucleus away from the centrosome. Involved in nuclear migration in retinal photoreceptor progenitors. Required for centrosome migration to the apical cell surface during early ciliogenesis. Facilitates the relaxation of mechanical stress imposed by compressive actin fibers at the rupture site through its nteraction with SYN2 (PubMed:34818527)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders. Publication Status: Online-Only, [RefSeq, PubMed]; Silencing of Nesprin-2 inhibits the differentiation of myofibroblasts from fibroblasts induced by mechanical stretch., [RefSeq, PubMed]; The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 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": 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": 34, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 171, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 3, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B4DND7;B4DPR6;I6XXQ5;Q540G1;Q86YP9;Q8N1S3;Q8NF49;Q8TER7;Q8WWW3;Q8WWW4;Q8WWW5;Q8WXH1;Q9NU50;Q9UFQ4;Q9Y2L4;Q9Y4R1", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0140444 cytoskeleton-nuclear membrane anchor activity", "go_cellular_component": "GO:0031981 nuclear lumen;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0021817 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration;GO:0031022 nuclear migration along microfilament;GO:0030335 positive regulation of cell migration;GO:1902017 regulation of cilium assembly;GO:0051642 centrosome localization", "synthesized_glycan_count": 0, "hit_score": 15.7, "record_id": "Q8WXH0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NYP3-1", "uniprot_id": "DONS_HUMAN", "mass": 62747.0, "length": 566, "protein_name": "Protein downstream neighbor of Son", "gene_name": "DONSON", "organism": "Human", "refseq_name": "protein downstream neighbor of Son", "refseq_ac": "NP_060083", "gene_names_uniprotkb": "DONSON; C21orf60", "gene_names_refseq": "B17; C21orf60; DONSON; MGORS10; MIMIS; MISSLA", "protein_names_uniprotkb": "Protein downstream neighbor of Son; B17", "protein_names_refseq": "downstream neighbor of SON; protein downstream neighbor of Son", "tax_id": 9606, "disease": "microcephaly, short stature, and limb abnormalities (Disease Ontology:DOID:0081431); microcephaly-micromelia syndrome (Disease Ontology:DOID:0081432); familial hyperlipidemia (Disease Ontology:DOID:1168); Norum disease (Disease Ontology:DOID:1391); syndrome (Disease Ontology:DOID:225); arteriosclerosis (Disease Ontology:DOID:2349); myocardial infarction (Disease Ontology:DOID:5844); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:29980)", "pathway_count": 1, "publication_count": 78, "publication_id_list": "10773462;11237011;14759258;18669648;22424782;22544926;23186163;23481700;24714562;24715725;25576301;25645385;25892735;26154972;26375851;26992070;27600516;27846572;27920218;28191891;28218747;28228285;28630177;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29786170;30315122;30410026;30524438;30779550;31092671;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32016978;32157095;32161166;32357974;32387766;32488085;32502341;32769987;32897882;32938616;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34932366;35051231;35318648;35494241;35561310;35580925;36010968;36215666;36241641;37458194;37638758;37781960", "class_list": "", "function": "Circ-DONSON promotes malignant progression of glioma through modulating FOXO3., [RefSeq, PubMed]; DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain. Publication Status: Online-Only, [RefSeq, PubMed]; DONSON facilitates Cdc45 and GINS chromatin association and is essential for DNA replication initiation., [RefSeq, PubMed]; DONSON is required for CMG helicase assembly in the mammalian cell cycle., [RefSeq, PubMed]; Novel role of DONSON in CMG helicase assembly during vertebrate DNA replication initiation., [RefSeq, PubMed]; Replisome component that maintains genome stability by protecting stalled or damaged replication forks. After the induction of replication stress, required for the stabilization of stalled replication forks, the efficient activation of the intra-S-phase and G/2M cell-cycle checkpoints and the maintenance of genome stability., [UniProtKB, PubMed]; This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [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": 2, "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": "Q8NC53;Q9NSR9;Q9NVZ5;Q9NYP1;Q9NYP2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0030894 replisome;GO:0005634 nucleus;GO:0005657 replication fork", "go_biological_process": "GO:0006260 DNA replication;GO:0000077 DNA damage checkpoint signaling;GO:0007095 mitotic G2 DNA damage checkpoint signaling;GO:0033260 nuclear DNA replication;GO:0031297 replication fork processing", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q9NYP3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HAB3-1", "uniprot_id": "S52A2_HUMAN", "mass": 45777.0, "length": 445, "protein_name": "Solute carrier family 52, riboflavin transporter, member 2", "gene_name": "SLC52A2", "organism": "Human", "refseq_name": "solute carrier family 52, riboflavin transporter, member 2 isoform 1", "refseq_ac": "NP_001240744", "gene_names_uniprotkb": "SLC52A2; GPR172A; PAR1; RFT3", "gene_names_refseq": "BVVLS2; D15Ertd747e; GPCR41; GPR172A; HuPAR-1; PAR1; RFT3; RFVT2; SLC52A2; hRFT3", "protein_names_uniprotkb": "Solute carrier family 52, riboflavin transporter, member 2; PERV-A receptor 1; Porcine endogenous retrovirus A receptor 1; Protein GPR172A; Riboflavin transporter 3; hRFT3", "protein_names_refseq": "G protein-coupled receptor 172A; G-protein coupled receptor 41; PERV-A receptor 1; human porcine endogenous retrovirus subgroup A receptor 1; porcine endogenous retrovirus A receptor 1; putative G-protein coupled receptor GPCR41; riboflavin transporter 3; solute carrier family 52 (riboflavin transporter), member 2; solute carrier family 52, riboflavin transporter, member 2 isoform 1; solute carrier family 52, riboflavin transporter, member 2", "tax_id": 9606, "disease": "Brown-Vialetto-Van Laere syndrome (Disease Ontology:DOID:0050694); Brown-Vialetto-Van Laere syndrome 2 (Disease Ontology:DOID:0080786)", "pathway": " (hsa:79581); (R-HSA-196843)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "11237011;12623014;12740431;16643857;17197387;18632736;19307586;20206331;20463145;21110228;22740598;22864630;23243084;23481700;24253200;24264046;24715725;25418920;25502872;25645385;26154972;26992070;27702554;2775236;28228285;28467828;28514659;28832583;28904123;29242379;29314611;29508533;29786170;29789417;30315122;30459171;30524438;31217245;31611695;31844290;32157095;32350084;32387766;32502341;32855765;32897882;32938616;33141586;33298915;33592498;33751428;33912179;33936100;33968037;34171305;34211107;34357683;34405274;34428344;34509645;34932366;35051231;35251023;35318648;35494241;35580925;36010968;36215666;36241641;36480241;8001561", "class_list": "", "function": "(Microbial infection) In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A)., [UniProtKB, PubMed, PubMed]; Functional Study of the Human Riboflavin Transporter 2 Using Proteoliposomes System., [RefSeq, PubMed]; Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2., [RefSeq, PubMed]; Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency. Publication Status: Online-Only, [RefSeq, PubMed]; Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism (PubMed:20463145, PubMed:22864630, PubMed:23243084, PubMed:24253200, PubMed:27702554). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145). May also act as a receptor for 4-hydroxybutyrate (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2., [RefSeq, PubMed]; This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012]., [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": 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": 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": 3939, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K6B6;D3DWL8;G1UCY1;Q86UT1", "ec_number_list": "", "go_molecular_function": "GO:0001618 virus receptor activity;GO:0032217 riboflavin transmembrane transporter activity;GO:0062124 4-hydroxybutyrate receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0032218 riboflavin transport;GO:0006771 riboflavin metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9HAB3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBP4-1", "uniprot_id": "DKK3_HUMAN", "mass": 38390.0, "length": 350, "protein_name": "Dickkopf-related protein 3", "gene_name": "DKK3", "organism": "Human", "refseq_name": "dickkopf-related protein 3 isoform 2 precursor", "refseq_ac": "NP_001317149", "gene_names_uniprotkb": "DKK3; PRO295; REIC", "gene_names_refseq": "CRRL; DKK3; REIC; RIG", "protein_names_uniprotkb": "Dickkopf-related protein 3; Dickkopf-3; Dkk-3; hDkk-3", "protein_names_refseq": "RIG-like 5-6; RIG-like 7-1; cardiomyocyte regeneration-related lncRNA; dickkopf 3 homolog; dickkopf homolog 3; dickkopf-3; dickkopf-related protein 3 isoform 2 precursor; dickkopf-related protein 3; dkk-3; hDkk-3; regulated in glioma", "tax_id": 9606, "disease": "", "pathway": " (hsa:27122)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "10.1101/2023.09.13.557529;10570958;10652205;11237011;11814687;12975309;15340161;17143291;19838169;23090970;23234360;24190977;24715725;25645385;26758079;27397612;27862975;29314611;29391424;29557506;29786170;29789417;30429286;30459171;30484775;31154438;31222486;31844290;31848261;32387766;32938616;33592498;33968037;34019948;34509645;35051231;35318648;36010968;36284347;37074911;37938771;38201279;38401687;38612910;38665916;38682264;38945840", "class_list": "", "function": "Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; DKK3 Expression in Glioblastoma: Correlations with Biomolecular Markers. Publication Status: Online-Only, [RefSeq, PubMed]; DKK3 promotes renal fibrosis by increasing MFF-mediated mitochondrial dysfunction in Wnt/beta-catenin pathway-dependent manner., [RefSeq, PubMed]; ICBP90, an epigenetic regulator, induces DKK3 promoter methylation, promotes glioma progression, and reduces sensitivity to cis-platinum., [RefSeq, PubMed]; MiR-98-3p alleviates lipopolysaccharide-induced pulmonary microvascular endothelial barrier dysfunction by targeting DKK3 in sepsis-induced acute lung injury., [RefSeq, PubMed]; REIC gene expression was decreased in 14 of 24 fresh non-small cell lung cancer specimens (58%) compared to that in corresponding non-cancerous tissue., [RefSeq, PubMed]; The Multifaceted Role of Human Dickkopf-3 (DKK-3) in Development, Immune Modulation and Cancer. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. The expression of this gene is decreased in a variety of cancer cell lines and it may function as a tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding the same protein. [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": 5, "reported_o_glycosites": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "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": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 16, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A8K1I2;D3DQW1;Q9ULB7", "ec_number_list": "", "go_molecular_function": "GO:0048019 receptor antagonist activity;GO:0039706 co-receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005576 extracellular region", "go_biological_process": "GO:0017015 regulation of transforming growth factor beta receptor signaling pathway;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0045892 negative regulation of DNA-templated transcription;GO:0016055 Wnt signaling pathway;GO:1902613 negative regulation of anti-Mullerian hormone signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9UBP4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H819-1", "uniprot_id": "DJC18_HUMAN", "mass": 41551.0, "length": 358, "protein_name": "DnaJ homolog subfamily C member 18", "gene_name": "DNAJC18", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 18", "refseq_ac": "NP_689899", "gene_names_uniprotkb": "DNAJC18", "gene_names_refseq": "DNAJC18", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 18", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 18; dnaJ homolog subfamily C member 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:202052)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;19625176;24714562;25576301;25631089;25880248;25892735;26375851;26728094;26992070;27846572;28832583;28904123;29242379;29508533;29557506;29769354;30429286;31154438;31844290;31848261;31998317;32157095;32502341;32983136;33592498;36284347;37938771", "class_list": "", "function": "(Microbial infection) In case of infection by polyomavirus, involved in the virus endoplasmic reticulum membrane penetration and infection (PubMed:25631089). Regulates the recruitment of DNAJB12:DNAJB14 into SV40-induced foci and all cooperate to guide SV40 across the endoplasmic reticulum membrane. The foci represent the site from which SV40 penetrates into the cytosol (PubMed:25631089)., [UniProtKB, 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": 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": "", "ec_number_list": "", "go_molecular_function": "GO:0030544 Hsp70 protein binding", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0006457 protein folding;GO:0071218 cellular response to misfolded protein", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9H819-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6E0U4-1", "uniprot_id": "DMKN_HUMAN", "mass": 47082.0, "length": 476, "protein_name": "Dermokine", "gene_name": "DMKN", "organism": "Human", "refseq_name": "dermokine isoform 5 precursor", "refseq_ac": "NP_001119529", "gene_names_uniprotkb": "DMKN; PRO1411", "gene_names_refseq": "DMKN; UNQ729; ZD52F10", "protein_names_uniprotkb": "Dermokine; Epidermis-specific secreted protein SK30/SK89", "protein_names_refseq": "dermokine isoform 5 precursor; epidermis-specific secreted protein SK30/SK89", "tax_id": 9606, "disease": "", "pathway": " (hsa:93099); (R-HSA-9725554)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;11237011;12067728;12624109;12975309;15140226;15234001;15556625;15675955;15780751;16297201;16374476;16959974;17330888;17380110;19924134;20707881;21423773;22544926;22735594;23060565;23283814;23428944;23584533;23629652;24794495;25418920;25645385;25813380;26340985;26375851;26758079;26811146;26929215;27452731;28218747;28228285;28795470;29393594;29437277;29557506;30315122;30410026;30524438;30905808;31217245;31399284;31844290;32157095;32350084;32373127;33043033;33633747;33912179;34171305;35051231;35251023;35580925;39894887", "class_list": "", "function": "Analysis of alternative spliced transcripts produced from the dermokine gene., [RefSeq, PubMed]; Dermokine gene is expressed in epithelial tissues other than the skin and this expression is transcriptionally and posttranscriptionally complex., [RefSeq, PubMed]; Dermokine-beta impairs ERK signaling through direct binding to GRP78, [RefSeq, PubMed]; Dmkndelta activates Rab5 function and thus is involved in the early endosomal trafficking. Publication Status: Online-Only, [RefSeq, PubMed]; May act as a soluble regulator of keratinocyte differentiation., [UniProtKB]; Serum DK is a potential biomarker in intraductal papillary mucinous neoplasm and invasive ductal carcinoma, when used in combination with conventional biomarkers. Erratum:[Anticancer Res. 2012 Nov;32(11):5137], [RefSeq, PubMed]; These results suggest that dermokine-beta delays early cutaneous wound healing in part by inhibiting expression of CXC chemokines containing the ERL-sequence motif., [RefSeq, PubMed]; This gene is upregulated in inflammatory diseases, and it was first observed as expressed in the differentiated layers of skin. The most interesting aspect of this gene is the differential use of promoters and terminators to generate isoforms with unique cellular distributions and domain components. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]., [RefSeq]; We showed that DMKN loss of function in Patu-8988 and PANC-1 pancreatic cancer cell lines resulted in reduced phosphorylation of STAT3.these data suggested that DMKN could be a potential prognostic biomarker and therapeutic target in pancreatic 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": 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": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "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": "A3EZ79;A3EZ80;A3EZ81;A3EZ82;A3EZ83;C9J4P6;C9J5N8;C9JAL3;Q32W58;Q32W62;Q32W63;Q32W64;Q32W65;Q32W66;Q32W67;Q6E0U5;Q6UXC7;Q96EW8;Q9BSY6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005576 extracellular region", "go_biological_process": "GO:1903575 cornified envelope assembly", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q6E0U4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H4A9-1", "uniprot_id": "DPEP2_HUMAN", "mass": 53365.0, "length": 486, "protein_name": "Dipeptidase 2", "gene_name": "DPEP2", "organism": "Human", "refseq_name": "dipeptidase 2 isoform 1 precursor", "refseq_ac": "NP_071750", "gene_names_uniprotkb": "DPEP2; PRO323", "gene_names_refseq": "DPEP2; MBD2", "protein_names_uniprotkb": "Dipeptidase 2; 3.4.13.19", "protein_names_refseq": "dipeptidase 2 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:64174); (R-HSA-2142691); (R-HSA-5423646); (R-HSA-9664535)", "pathway_count": 4, "publication_count": 84, "publication_id_list": "10.1038/emboj.2013.79;10064732;10391245;10462554;10779545;10851239;11237011;11409944;11844797;11904223;12144777;12235216;12727802;12933810;12975309;1359745;1504254;15604543;16335952;16385575;1643250;16795963;16970545;18184802;18357469;18416522;1848634;18647347;19463;19743890;20436887;21447318;23076889;23584533;2573352;27046942;2753893;2768222;2836406;2864155;2866075;2877850;2882965;29133059;29242379;29493099;2995393;3006030;3020588;30429286;30459171;30669;3118366;3164719;31844290;32325220;32350084;3372534;34357683;35051231;35251023;35580925;3563417;36215666;37074911;37449493;3931076;3933675;6122208;6293969;6490615;7764673;7766804;7937884;8052639;8394361;8439558;8576264;8703034;8812420;8975785;9278457;9461497;9576847", "class_list": "", "function": "DPEP2 belongs to the membrane-bound dipeptidase (EC 3.4.13.19) family. These enzymes hydrolyze a variety of dipeptides, including leukotriene D4, the beta-lactam ring of some antibiotics, and cystinyl-bis-glycine (cys-bis-gly) formed during glutathione degradation (Habib et al., 2003 [PubMed 12738806]).[supplied by OMIM, Mar 2008]., [RefSeq]; Dipeptidase that hydrolyzes leukotriene D4 (LTD4) into leukotriene E4 (LTE4) (PubMed:32325220). Hydrolyzes cystinyl-bis-glycine (PubMed:32325220)., [UniProtKB, PubMed]; Dipeptidase-2 is a prognostic marker in lung adenocarcinoma that is correlated with its sensitivity to cisplatin., [RefSeq, PubMed]; Independently of its dipeptidase activity can also modulate macrophage inflammatory response by acting as a regulator of NF-kappaB inflammatory signaling pathway., [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": 3, "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": 3, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "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": 6, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A0A024R6Y5;B2RCF8;B3KS59;I3L248;Q6UX92;Q8TC95", "ec_number_list": "3.4.13.19;3.5.2.6", "go_molecular_function": "GO:0046872 metal ion binding;GO:0070573 metallodipeptidase activity;GO:0016805 dipeptidase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0098552 side of membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0006691 leukotriene metabolic process;GO:1901749 leukotriene D4 catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q9H4A9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13609-1", "uniprot_id": "DNSL3_HUMAN", "mass": 35504.0, "length": 305, "protein_name": "Deoxyribonuclease gamma", "gene_name": "DNASE1L3", "organism": "Human", "refseq_name": "deoxyribonuclease gamma isoform 2 precursor", "refseq_ac": "NP_001243489", "gene_names_uniprotkb": "DNASE1L3; DHP2; DNAS1L3", "gene_names_refseq": "D3; DHP2; DNAS1L3; DNASE1L3; LSD; SLEB16", "protein_names_uniprotkb": "Deoxyribonuclease gamma; 3.1.21.-; DNase I homolog protein DHP2; DNase I-like 3; DNase gamma; Deoxyribonuclease I-like 3; LS-DNase; LSD; Liver and spleen DNase", "protein_names_refseq": "DNase I homolog protein 2; DNase I homolog protein DHP2; DNase I-like 3; DNase gamma; DNaseY; LS-DNase; Liver and spleen DNase; deoxyribonuclease 1 like 3; deoxyribonuclease I-like 3; deoxyribonuclease I-like III; deoxyribonuclease gamma isoform 2 precursor; deoxyribonuclease gamma", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); systemic lupus erythematosus (Disease Ontology:DOID:9074); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1776)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "10807908;11141064;11237011;14646506;16959974;19559017;21692081;22019780;22424782;23229555;23719902;23783831;24312463;26758079;26992070;27293190;28228285;28467828;28649982;28832583;28834231;28855257;28904123;29242379;29393594;29557506;30315122;30429286;30573663;31092671;31154438;31217245;31844290;31848261;32162841;32350084;32357974;32983136;33043033;33091337;33298915;33717175;33912179;34561969;34932366;35580925;38108119;38246176;38744839;38888971;9070308;9205125;9714828", "class_list": "", "function": "A dual-acting DNASE1/DNASE1L3 biologic prevents autoimmunity and death in genetic and induced lupus models. Publication Status: Online-Only, [RefSeq, PubMed]; Deoxyribonuclease 1-like 3 inhibits colorectal malignancy through antagonizing NEDD4-triggered CDKN1A ubiquitination., [RefSeq, PubMed]; Double-negative B cells and DNASE1L3 colocalise with microbiota in gut-associated lymphoid tissue. Publication Status: Online-Only, [RefSeq, PubMed]; Has DNA hydrolytic activity. Is capable of both single- and double-stranded DNA cleavage, producing DNA fragments with 3'-OH ends (By similarity). Can cleave chromatin to nucleosomal units and cleaves nucleosomal and liposome-coated DNA (PubMed:10807908, PubMed:14646506, PubMed:27293190, PubMed:9070308, PubMed:9714828). Acts in internucleosomal DNA fragmentation (INDF) during apoptosis and necrosis (PubMed:23229555, PubMed:24312463). The role in apoptosis includes myogenic and neuronal differentiation, and BCR-mediated clonal deletion of self-reactive B cells (By similarity). Is active on chromatin in apoptotic cell-derived membrane-coated microparticles and thus suppresses anti-DNA autoimmunity (PubMed:27293190). Together with DNASE1, plays a key role in degrading neutrophil extracellular traps (NETs) (By similarity). NETs are mainly composed of DNA fibers and are released by neutrophils to bind pathogens during inflammation (By similarity). Degradation of intravascular NETs by DNASE1 and DNASE1L3 is required to prevent formation of clots that obstruct blood vessels and cause organ damage following inflammation (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Mutations in this gene are a cause of systemic lupus erythematosus-16. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]., [RefSeq]; We identified a rare autosomal recessive form of systemic lupus erythematosus, in which autozygome analysis revealed a null mutation in the DNASE1L3 gene Publication Status: Online-Only, [RefSeq, PubMed]; [Decreased DNase1L3 secretion and associated antibodies induce impaired degradation of NETs in patients with sporadic SLE]., [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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R8B1;B7Z707;O75803", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0005509 calcium ion binding;GO:0004536 DNA nuclease activity;GO:0004530 deoxyribonuclease I activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0002283 neutrophil activation involved in immune response;GO:0070948 regulation of neutrophil mediated cytotoxicity;GO:0006259 DNA metabolic process;GO:0006309 apoptotic DNA fragmentation;GO:0010623 programmed cell death involved in cell development", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q13609-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NPF0-1", "uniprot_id": "CD320_HUMAN", "mass": 28991.0, "length": 282, "protein_name": "CD320 antigen", "gene_name": "CD320", "organism": "Human", "refseq_name": "CD320 antigen isoform 2 precursor", "refseq_ac": "NP_001159367", "gene_names_uniprotkb": "CD320; 8D6A; PRO224", "gene_names_refseq": "8D6A; 8D6; CD320; TCBLR; TCII-R; TCN2R; sCD320", "protein_names_uniprotkb": "CD320 antigen; 8D6 antigen; FDC-SM-8D6; FDC-signaling molecule 8D6; TCblR; Transcobalamin receptor", "protein_names_refseq": "8D6 antigen; CD320 antigen isoform 2 precursor; CD320 antigen; FDC-SM-8D6; FDC-signaling molecule 8D6; soluble CD320; transcobalamin 2 receptor; transcobalamin receptor", "tax_id": 9606, "disease": "methylmalonic acidemia due to transcobalamin receptor defect (Disease Ontology:DOID:0060741)", "pathway": " (hsa:51293); (R-HSA-3359485); (R-HSA-9758890)", "pathway_count": 3, "publication_count": 62, "publication_id_list": "10727470;11230166;11237011;11418631;12975309;14528014;15340161;15652495;16537422;18779389;19136951;20187088;20524213;21511966;22547309;22819238;22922874;23603833;23836931;23846701;25418920;25502872;26992070;27411955;27456980;27535533;2777761;28218747;28467828;28832583;28904123;29242379;29437277;29557506;30410026;30573663;30626607;31217245;31844290;32502341;32898552;33214551;33803025;33845046;34019948;34357683;34433824;34978764;35107211;35154160;35494241;36215666;37202078;3782074;38665916;39551142;4001945;759210;7768901;8706697;8710919;915005", "class_list": "", "function": "Cellular uptake of vitamin B12: Role and fate of TCblR/CD320, the transcobalamin receptor., [RefSeq, PubMed]; Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter. Publication Status: Online-Only, [RefSeq, PubMed]; Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene., [RefSeq, PubMed]; Receptor for transcobalamin saturated with cobalamin (TCbl) (PubMed:18779389). Plays an important role in cobalamin uptake (PubMed:18779389, PubMed:20524213). Plasma membrane protein that is expressed on follicular dendritic cells (FDC) and mediates interaction with germinal center B cells (PubMed:10727470). Functions as costimulator to promote B cell responses to antigenic stimuli; promotes B cell differentiation and proliferation (PubMed:10727470, PubMed:11418631). Germinal center-B (GC-B) cells differentiate into memory B-cells and plasma cells (PC) through interaction with T-cells and follicular dendritic cells (FDC) (PubMed:11418631). CD320 augments the proliferation of PC precursors generated by IL-10 (PubMed:11418631)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]., [RefSeq]; Transcobalamin receptor gene polymorphisms and mutation in an elderly population., [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": 3, "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": 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": 2, "reported_mutagensis": 0, "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": "B2RDS5;D6W668;F5H6D3;Q53HF7", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0008083 growth factor activity;GO:0031419 cobalamin binding;GO:0038024 cargo receptor activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0030890 positive regulation of B cell proliferation;GO:0015889 cobalamin transport;GO:0031296 B cell costimulation;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9NPF0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZU64-1", "uniprot_id": "CFA65_HUMAN", "mass": 217250.0, "length": 1925, "protein_name": "Cilia- and flagella-associated protein 65", "gene_name": "CFAP65", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 65 isoform 2", "refseq_ac": "NP_689602", "gene_names_uniprotkb": "CFAP65; CCDC108", "gene_names_refseq": "CCDC108; CFAP65; SPGF40", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 65; Coiled-coil domain-containing protein 108", "protein_names_refseq": "cilia- and flagella-associated protein 65 isoform 2; coiled-coil domain containing 108", "tax_id": 9606, "disease": "spermatogenic failure 40 (Disease Ontology:DOID:0111918)", "pathway": " (hsa:255101)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;28552195;28585349;29557506;29632046;30379171;30524438;31413122;31501240;31571197;31844290;32387766;33472045;33981976;35051231;35201641;35251023;35494241;36241641;39302247", "class_list": "", "function": "Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice., [RefSeq, PubMed]; CFAP65 mutations may cause spermatozoa to be completely immotile., [RefSeq, PubMed]; Male infertility-associated Ccdc108 regulates multiciliogenesis via the intraflagellar transport machinery., [RefSeq, PubMed]; Plays a role in flagellar formation and sperm motility (PubMed:33472045). Essential for acrosome formation, manchette organization, spermatid head morphogenesis and mitochondrial sheath assembly within the sperm flagellum during spermiogenesis (By similarity). Also required for proper assembly and stabilization of the C2a projection, a structural subunit of the central pair apparatus within the axoneme of motile cilia and flagella (By similarity)., [UniProtKB, PubMed, UniProtKB]; The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology and defects in sperm motility. [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": 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": 56, "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": "A2BDD8;E9PCR1;E9PG25;E9PG72;Q6ZSR8;Q8N0T4;Q8NDJ3", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:1990716 axonemal central apparatus;GO:0005737 cytoplasm;GO:0001669 acrosomal vesicle;GO:0036126 sperm flagellum;GO:0002080 acrosomal membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030317 flagellated sperm motility;GO:0001675 acrosome assembly;GO:0003341 cilium movement;GO:0007288 sperm axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q6ZU64-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBU7-1", "uniprot_id": "DBF4A_HUMAN", "mass": 76858.0, "length": 674, "protein_name": "Protein DBF4 homolog A", "gene_name": "DBF4", "organism": "Human", "refseq_name": "protein DBF4 homolog A isoform 2", "refseq_ac": "NP_001304989", "gene_names_uniprotkb": "DBF4; ASK; DBF4A; ZDBF1", "gene_names_refseq": "ASK; CHIF; DBF4A; DBF4; ZDBF1", "protein_names_uniprotkb": "Protein DBF4 homolog A; Activator of S phase kinase; Chiffon homolog A; DBF4-type zinc finger-containing protein 1", "protein_names_refseq": "DBF4 homolog; DBF4 zinc finger A; DBF4-type zinc finger-containing protein 1; activator of S phase kinase; chiffon homolog A; protein DBF4 homolog A isoform 2; protein DBF4 homolog A; regulatory subunit of DDK; zinc finger, DBF-type containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10926); (R-HSA-176187); (R-HSA-68962)", "pathway_count": 3, "publication_count": 127, "publication_id_list": "10051570;10373362;10373557;10518787;10523313;10757793;10777662;10827953;10846177;10859164;10882098;11095689;11125146;11237011;11390642;12015319;12045100;12399544;12578958;12676583;12676925;12759351;12791985;12963847;14500360;14603323;14605214;14624239;15190204;15226314;15302935;15374998;15707391;15743907;15833913;16327781;16407120;16964243;17062569;17525332;18480045;18669648;18691976;18767875;19369195;19413330;19651622;19664995;19690332;20068231;21209280;22123827;22544926;22645359;23186163;23481700;24714562;24715725;25231993;25418920;25576301;25645385;25880248;26154972;26375851;26992070;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29632046;29632711;29997176;30315122;30379171;30524438;31154438;31217245;31222486;31530632;31844290;31937595;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34932366;34975331;35051231;35561310;35580925;36010968;36215666;36241641;37217939;37497004;38253038;38724606;38865090;8196638;8943031;9278511;9278512;9660782", "class_list": "", "function": "DBF4 Dependent Kinase Inhibition Suppresses Hepatocellular Carcinoma Progression and Potentiates Anti-Programmed Cell Death-1 Therapy. Publication Status: Online-Only, [RefSeq, PubMed]; DBF4, not DRF1, is the crucial regulator of CDC7 kinase at replication forks., [RefSeq, PubMed]; Identification and Validation of a Prognostic Model Based on Three MVI-Related Genes in Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory subunit for CDC7 which activates its kinase activity thereby playing a central role in DNA replication and cell proliferation. Required for progression of S phase. The complex CDC7-DBF4A selectively phosphorylates MCM2 subunit at 'Ser-40' and 'Ser-53' and then is involved in regulating the initiation of DNA replication during cell cycle., [UniProtKB, PubMed, PubMed, PubMed]; Results suggest that E2F regulates the ASK promoter through an atypical mode of recognition of the target site, [RefSeq, PubMed]; The prognostic significance and potential mechanism of DBF4 zinc finger 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": 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": 22, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 20, "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": "A4D1D8;A8K954;O75226;Q75MS6;Q75N01;Q9Y2M6", "ec_number_list": "", "go_molecular_function": "GO:0008047 enzyme activator activity;GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding;GO:0043539 protein serine/threonine kinase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0031431 Dbf4-dependent protein kinase complex", "go_biological_process": "GO:0006260 DNA replication;GO:0000082 G1/S transition of mitotic cell cycle;GO:0031573 mitotic intra-S DNA damage checkpoint signaling;GO:1901987 regulation of cell cycle phase transition;GO:0010571 positive regulation of nuclear cell cycle DNA replication", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q9UBU7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q03001-7", "uniprot_id": "DYST_HUMAN", "mass": 860662.0, "length": 7570, "protein_name": "Dystonin", "gene_name": "DST", "organism": "Human", "refseq_name": "dystonin isoform 3", "refseq_ac": "NP_001138242", "gene_names_uniprotkb": "DST; BP230; BP240; BPAG1; DMH; DT; KIAA0728", "gene_names_refseq": "BP240; BPAG1; BPA; CATX-15; CATX15; CMYO29; D6S1101; DMH; DST; DT; EBS3; EBSB2; HSAN6; LCCS12; MACF2", "protein_names_uniprotkb": "Dystonin; 230 kDa bullous pemphigoid antigen; 230/240 kDa bullous pemphigoid antigen; BPA; Bullous pemphigoid antigen 1; Bullous pemphigoid antigen; Dystonia musculorum protein; Hemidesmosomal plaque protein", "protein_names_refseq": "bullous pemphigoid antigen 1; bullous pemphigoid antigen; dystonia musculorum protein; dystonin isoform 3; hemidesmosomal plaque protein; trabeculin-beta", "tax_id": 9606, "disease": "hereditary sensory and autonomic neuropathy (Disease Ontology:DOID:0050548); hereditary sensory and autonomic neuropathy type 6 (Disease Ontology:DOID:0070151); cancer (Disease Ontology:DOID:162); epidermolysis bullosa simplex (Disease Ontology:DOID:4644)", "pathway": " (hsa:667); (R-HSA-446107); (R-HSA-9013420); (R-HSA-9013424); (R-HSA-9696264); (R-HSA-9696270); (R-HSA-9696273)", "pathway_count": 7, "publication_count": 182, "publication_id_list": "10.1101/2023.09.13.557529;10428034;10637308;10664463;10811835;11375975;11459829;11751855;11784792;11940653;12244061;12482924;12802069;12842009;14521508;14581450;14732713;15350535;15556869;15738000;16481321;17074750;17081983;1712022;1717441;17355222;17504809;17924679;18669648;18996843;19064640;19103606;19136556;19242489;19403692;19632184;19932097;20068231;20112406;20164846;20547754;20811643;2090522;21406692;21508312;21565175;22113475;22339630;22419821;22424782;22522446;22544926;22617051;23186163;23481700;24275569;2461961;24690281;24714562;24715725;25418920;25502872;25505266;25576301;25645385;25802875;25880248;25888806;25892735;26024233;26154972;26375851;26598620;26728094;26768311;26811146;26929215;26969432;26992070;27397612;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28657654;28832583;28834231;28860189;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;29789417;30192525;30315122;30379171;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31871319;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32737221;32897882;32938616;32983136;33091337;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34725712;34932366;35051231;35318648;35494241;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37431644;37938771;38253038;38465459;38665916;39302247;40136647;40596516;8010969;8345227;8575775;8621649;8649376;8752219;9531558;9778532", "class_list": "", "function": "BPAG1-b was detectable in vitro and in vivo as a high molecular mass protein in striated and heart muscle cells, co-localizing with alpha-actinin-2 and partially with the cytolinker plectin as well as with the intermediate filament protein desmin., [RefSeq, PubMed]; Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport through its interaction with TMEM108 and DCTN1 (By similarity)., [UniProtKB, UniProtKB]; DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy., [RefSeq, PubMed]; Plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity., [UniProtKB]; Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport., [UniProtKB]; Required for bundling actin filaments around the nucleus., [UniProtKB, PubMed, PubMed, PubMed]; The DST gene in neurobiology. Review article, [RefSeq, PubMed]; This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 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": 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": 1, "reported_phosphosites": 16, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "B7Z3H1;E7ERU0;O94833;Q12825;Q13266;Q13267;Q13775;Q5TBT0;Q5TBT2;Q5TF23;Q5TF24;Q8N1T8;Q8N8J3;Q8WXK8;Q8WXK9;Q96AK9;Q96DQ5;Q96J76;Q96QT5;Q9H555;Q9UGD7;Q9UGD8;Q9UN10", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0005178 integrin binding;GO:0008017 microtubule binding;GO:0042803 protein homodimerization activity;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:0008090 retrograde axonal transport;GO:0007155 cell adhesion;GO:0007229 integrin-mediated signaling pathway;GO:0007010 cytoskeleton organization;GO:0009611 response to wounding", "synthesized_glycan_count": 0, "hit_score": 20.4, "record_id": "Q03001-7", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BW62-1", "uniprot_id": "KATL1_HUMAN", "mass": 55392.0, "length": 490, "protein_name": "Katanin p60 ATPase-containing subunit A-like 1", "gene_name": "KATNAL1", "organism": "Human", "refseq_name": "katanin p60 ATPase-containing subunit A-like 1", "refseq_ac": "NP_001014402", "gene_names_uniprotkb": "KATNAL1", "gene_names_refseq": "KATNAL1", "protein_names_uniprotkb": "Katanin p60 ATPase-containing subunit A-like 1; 5.6.1.1; Katanin p60 subunit A-like 1; p60 katanin-like 1", "protein_names_refseq": "katanin catalytic subunit A like 1; katanin p60 ATPase-containing subunit A-like 1; katanin p60 subunit A like 1; p60 katanin-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84056)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18991276;20519956;22654668;24366607;25576301;25880248;26929214;26992070;28228285;29242379;30315122;30573663;31844290;32157095;32357974;32502341;32938616;32983136;33298915;33392160;33968037;35051231;35580925;35752927;36010968;36240223", "class_list": "", "function": "Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility., [RefSeq, PubMed]; KL1-mediated microtubule severing is utilized to generate microtubule seeds within the poles and loss of this activity alters the normal balance of motor-generated forces that determine spindle length., [RefSeq, PubMed]; Regulates microtubule dynamics in Sertoli cells, a process that is essential for spermiogenesis and male fertility. Severs microtubules in an ATP-dependent manner, promoting rapid reorganization of cellular microtubule arrays (By similarity). Has microtubule-severing activity in vitro (PubMed:26929214)., [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": 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": 11, "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": "A8K5X4", "ec_number_list": "", "go_molecular_function": "GO:0008568 microtubule severing ATPase activity;GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0042802 identical protein binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0008352 katanin complex;GO:0000922 spindle pole;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005819 spindle", "go_biological_process": "GO:0051013 microtubule severing;GO:0007283 spermatogenesis;GO:0031122 cytoplasmic microtubule organization;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9BW62-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96J94-1", "uniprot_id": "PIWL1_HUMAN", "mass": 98603.0, "length": 861, "protein_name": "Piwi-like protein 1", "gene_name": "PIWIL1", "organism": "Human", "refseq_name": "piwi-like protein 1 isoform 2", "refseq_ac": "NP_001177900", "gene_names_uniprotkb": "PIWIL1; HIWI", "gene_names_refseq": "CT80.1; HIWI; MIWI; PIWIL1; PIWI", "protein_names_uniprotkb": "Piwi-like protein 1; 3.1.26.-", "protein_names_refseq": "piwi homolog; piwi-like protein 1 isoform 2; piwi-like protein 1", "tax_id": 9606, "disease": "primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:9271); (R-HSA-5601884)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "11154219;11237011;12037681;12906857;14749716;16287078;17544373;18922463;21193640;21465557;22233380;23056369;23436708;23826142;23980886;24656595;27452731;28552346;28832583;29557506;32157095;35051231;35273654;35403682;37382906;38012622;38056635", "class_list": "", "function": "A novel piwi-interacting RNA associates with type 2-high asthma phenotypes., [RefSeq, PubMed]; Endoribonuclease that plays a central role in postnatal germ cells by repressing transposable elements and preventing their mobilization, which is essential for the 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. Directly binds methylated piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. Strongly prefers a uridine in the first position of their guide (g1U preference, also named 1U-bias). Not involved in the piRNA amplification loop, also named ping-pong amplification cycle. Acts as an endoribonuclease that cleaves transposon messenger RNAs. Besides their function in transposable elements repression, piRNAs are probably involved in other processes during meiosis such as translation regulation. Probable component of some RISC complex, which mediates RNA cleavage and translational silencing. Also plays a role in the formation of chromatoid bodies and is required for some miRNAs stability. Required to sequester RNF8 in the cytoplasm until late spermatogenesis; RNF8 being released upon ubiquitination and degradation of PIWIL1., [UniProtKB, UniProtKB]; Impact of PIWIL1 Single Nucleotide Polymorphisms on Gastric Cancer Risk in a Chinese Population., [RefSeq, PubMed]; May be a negative developmental regulator (PubMed:12037681, PubMed:16287078)., [UniProtKB, PubMed, PubMed]; Noncanonical functions of PIWIL1/piRNAs in animal male germ cells and human diseasesdagger. Review article, [RefSeq, PubMed]; PIWI-Interacting RNA Pathway Genes: Potential Biomarkers for Clear Cell Renal Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Relationship between PIWIL1 gene polymorphisms and epithelial ovarian cancer susceptibility among southern Chinese woman: a three-center case-control study. Publication Status: Online-Only, [RefSeq, PubMed]; Specifically expressed in both normal and malignant spermatogenic cells in a maturation stage-dependent pattern, in which it might function in germ cell proliferation, [RefSeq, PubMed]; This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 38, "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": "A4F266;O95404;Q8NA60;Q8TBY5;Q96JD5", "ec_number_list": "2.1.1.386;3.1.26.-", "go_molecular_function": "GO:0003729 mRNA binding;GO:0016787 hydrolase activity;GO:0019901 protein kinase binding;GO:0046872 metal ion binding;GO:0003727 single-stranded RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0097433 dense body;GO:0033391 chromatoid body;GO:0043186 P granule", "go_biological_process": "GO:0006417 regulation of translation;GO:0007283 spermatogenesis;GO:0007286 spermatid development;GO:0031047 regulatory ncRNA-mediated gene silencing;GO:0034587 piRNA processing", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q96J94-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9ULA0-1", "uniprot_id": "DNPEP_HUMAN", "mass": 53410.0, "length": 485, "protein_name": "Aspartyl aminopeptidase", "gene_name": "DNPEP", "organism": "Human", "refseq_name": "aspartyl aminopeptidase isoform e", "refseq_ac": "NP_001306049", "gene_names_uniprotkb": "DNPEP; ASPEP; DAP", "gene_names_refseq": "ASPEP; DAP; DNPEP", "protein_names_uniprotkb": "Aspartyl aminopeptidase; 3.4.11.21", "protein_names_refseq": "aspartyl aminopeptidase isoform e", "tax_id": 9606, "disease": "juvenile myelomonocytic leukemia (Disease Ontology:DOID:0050458); cardiomyopathy (Disease Ontology:DOID:0050700); renal fibrosis (Disease Ontology:DOID:0050855); hepatocellular adenoma (Disease Ontology:DOID:0050868); cardiofaciocutaneous syndrome (Disease Ontology:DOID:0060233); Noonan syndrome 3 (Disease Ontology:DOID:0060581); arteriovenous malformations of the brain (Disease Ontology:DOID:0060688); endometrial hyperplasia (Disease Ontology:DOID:0080365); RASopathy (Disease Ontology:DOID:0080690); autoimmune lymphoproliferative syndrome type 4 (Disease Ontology:DOID:0110117); cardiofaciocutaneous syndrome 2 (Disease Ontology:DOID:0111461); linear nevus sebaceous syndrome (Disease Ontology:DOID:0111530); oculoectodermal syndrome (Disease Ontology:DOID:0111705); intestinal cancer (Disease Ontology:DOID:10155); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); intellectual disability (Disease Ontology:DOID:1059); urinary bladder cancer (Disease Ontology:DOID:11054); heart disease (Disease Ontology:DOID:114); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); leukemia (Disease Ontology:DOID:1240); lung cancer (Disease Ontology:DOID:1324); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); pancreatic cancer (Disease Ontology:DOID:1793); kidney cancer (Disease Ontology:DOID:263); transitional cell carcinoma (Disease Ontology:DOID:2671); endometrial adenocarcinoma (Disease Ontology:DOID:2870); endometriosis (Disease Ontology:DOID:289); carcinoma (Disease Ontology:DOID:305); glioblastoma (Disease Ontology:DOID:3068); malignant astrocytoma (Disease Ontology:DOID:3069); high grade glioma (Disease Ontology:DOID:3070); anaplastic astrocytoma (Disease Ontology:DOID:3078); Noonan syndrome (Disease Ontology:DOID:3490); Lynch syndrome (Disease Ontology:DOID:3883); lung adenocarcinoma (Disease Ontology:DOID:3910); cervical cancer (Disease Ontology:DOID:4362); seminoma (Disease Ontology:DOID:4440); renal cell carcinoma (Disease Ontology:DOID:4450); pancreatic carcinoma (Disease Ontology:DOID:4905); bronchiolo-alveolar adenocarcinoma (Disease Ontology:DOID:4926); Klatskin's tumor (Disease Ontology:DOID:4927); intrahepatic cholangiocarcinoma (Disease Ontology:DOID:4928); stomach carcinoma (Disease Ontology:DOID:5517); fibrillary astrocytoma (Disease Ontology:DOID:6726); hepatocellular carcinoma (Disease Ontology:DOID:684); pancreatic mucinous cystadenoma (Disease Ontology:DOID:7235); muscular atrophy (Disease Ontology:DOID:767); myeloid sarcoma (Disease Ontology:DOID:8683); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:23549)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;12413488;20068231;22720794;24275569;27600516;28514659;28832583;28834231;28871256;29242379;29508533;29632711;29769354;29789417;30429286;31228326;31848261;32161166;32897882;32938616;32983136;33592498;33968037;34087483;34357683;34561969;34725712;35051231;35580925;36241641;36284347;37938771;38665916;40914422;9632644", "class_list": "", "function": "Aminopeptidase with specificity towards an acidic amino acid at the N-terminus. Likely to play an important role in intracellular protein and peptide metabolism., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Aspartyl Aminopeptidase Suppresses Proliferation, Invasion, and Stemness of Breast Cancer Cells via Targeting CD44., [RefSeq, PubMed]; Identification of histidine residues important in the catalysis and structure of aspartyl aminopeptidase, [RefSeq, PubMed]; The crystal structure of human DNPEP complexed with zinc and a substrate analogue aspartate-beta-hydroxamate reveals a dodecameric machinery built by domain-swapped dimers. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is an aminopeptidase which prefers acidic amino acids, and specifically favors aspartic acid over glutamic acid. It is thought to be a cytosolic protein involved in general metabolism of intracellular proteins. Several 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": 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": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 54, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BW44;Q9NUV5;Q9NV55", "ec_number_list": "", "go_molecular_function": "GO:0008237 metallopeptidase activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0004177 aminopeptidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0072562 blood microparticle", "go_biological_process": "GO:0006508 proteolysis;GO:0006518 peptide metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9ULA0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H4G0-1", "uniprot_id": "E41L1_HUMAN", "mass": 98503.0, "length": 881, "protein_name": "Band 4.1-like protein 1", "gene_name": "EPB41L1", "organism": "Human", "refseq_name": "band 4.1-like protein 1 isoform c", "refseq_ac": "NP_001245258", "gene_names_uniprotkb": "EPB41L1; KIAA0338", "gene_names_refseq": "4.1N; EPB41L1; MRD11", "protein_names_uniprotkb": "Band 4.1-like protein 1; 4.1N; Erythrocyte membrane protein band 4.1-like 1; Neuronal protein 4.1", "protein_names_refseq": "band 4.1-like protein 1 isoform c; band 4.1-like protein 1; neuron-type nonerythroid protein 4.1; neuronal protein 4.1", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); autosomal dominant intellectual developmental disorder 11 (Disease Ontology:DOID:0070041)", "pathway": " (hsa:2036); (R-HSA-399719); (R-HSA-6794361); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 5, "publication_count": 86, "publication_id_list": "10025409;10821263;11136977;11163272;11237011;11604393;15118850;15540461;16242404;16624946;16846852;16964243;17081983;17322306;17897391;18212344;18311135;18510355;18669648;18767875;18812509;18829961;19651622;19664994;20064387;20064388;20068231;20519524;21282647;21376300;23186163;24129315;24275569;24715725;25378172;25576301;26575790;26648170;26992070;27448302;28228285;28657654;29237092;29351928;29393594;29428502;29557506;30059200;30315122;30379171;30429286;30484775;31373491;31492838;31844290;32357974;32502341;32574038;32938616;33298915;33537174;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34846842;35051231;35132862;35254053;35513511;35580925;36215666;36284347;39534244;40136647;41350704;7695896;7736595;8576240;9069287;9808458;9927700", "class_list": "", "function": "4.1N, betaII spectrin and ankyrin G are structural components of the lateral membrane skeleton and this skeleton plays an essential role in the assembly of a fully functional lateral membrane., [RefSeq, PubMed]; Data show that overexpression of 4.1N protein decreased expression of flotillin-1, decreased activation of beta-catenin/Wnt pathway in non-small-cell lung cancer (NSCLC) cells., [RefSeq, PubMed]; Data suggest that repression of JNK-c-Jun signaling through pancreatic polypeptide receptor 1 (PP1) is one of the key anti-tumor mechanisms of neuronal membrane cytoskeletal protein 4.1 (4.1N). Erratum:[Oncotarget. 2019 Oct 22;10(58):6285. doi: 10.18632/oncotarget.27282. PMID: 31692885], [RefSeq, PubMed]; Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]., [RefSeq]; May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases., [UniProtKB]; The data of the current study identified 4.1N as an inhibitor of hypoxiainduced tumor progression in epithelial ovarian cancer 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": 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": 35, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "O15046;Q4VXM6;Q4VXM7;Q4VXM8;Q4VXN4;Q6ZT61;Q8IUU7;Q96CV5;Q96L65", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0005198 structural molecule activity;GO:0008092 cytoskeletal protein binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:0031032 actomyosin structure organization;GO:0030866 cortical actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q9H4G0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N4L8-1", "uniprot_id": "CCD24_HUMAN", "mass": 34322.0, "length": 307, "protein_name": "Coiled-coil domain-containing protein 24", "gene_name": "CCDC24", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 24 isoform 1", "refseq_ac": "NP_689712", "gene_names_uniprotkb": "CCDC24", "gene_names_refseq": "CCDC24", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 24", "protein_names_refseq": "coiled-coil domain-containing protein 24 isoform 1; coiled-coil domain-containing protein 24", "tax_id": 9606, "disease": "", "pathway": " (hsa:149473)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;27846572;31844290;32157095;32983136;33298915;33912179;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": 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": "Q6RWT2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8N4L8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N1I0-1", "uniprot_id": "DOCK4_HUMAN", "mass": 225206.0, "length": 1966, "protein_name": "Dedicator of cytokinesis protein 4", "gene_name": "DOCK4", "organism": "Human", "refseq_name": "dedicator of cytokinesis protein 4 isoform 1", "refseq_ac": "NP_055520", "gene_names_uniprotkb": "DOCK4; KIAA0716", "gene_names_refseq": "DOCK4", "protein_names_uniprotkb": "Dedicator of cytokinesis protein 4", "protein_names_refseq": "dedicator of cytokinesis protein 4 isoform 1; dedicator of cytokinesis protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:9732); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013408); (R-HSA-983231)", "pathway_count": 5, "publication_count": 343, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10652265;10699171;10699464;10847683;10873802;10958683;11007481;11042108;11058585;11062261;11085924;11145705;11149925;11237011;11242053;11373293;11396949;11431473;11432776;11584276;11672528;11689693;11704860;11707441;11744692;11751636;11756552;11773441;11803464;11804587;11804589;11804590;11864571;11884391;11895428;11912491;11919634;11950885;11961559;11967128;12032298;12071859;12093360;12096337;12134158;12177196;12195014;12221096;12351724;12376551;12427746;12432077;12531887;12546821;12547822;12628187;12650940;12665586;12857875;12877655;12923183;14512443;14514689;1464587;14675773;14718541;15020713;15023524;15033976;15064355;15107133;15133129;15147912;15169870;15247287;15302923;15339924;15342493;15485661;15507211;15542837;15579468;15601624;15611138;15710388;15728722;15814684;15850391;15858067;15897194;16002401;16054028;16081809;16112081;16116428;16184169;16243035;16243036;1630448;16339170;16464467;16473593;16492808;16507994;16519628;1660188;16636067;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17027967;17060455;17077126;17145773;17158234;17196961;17214551;17244649;17269730;17583407;17599059;17698854;17702745;17765681;17804252;17976533;18006505;18045877;18056264;18191593;18218625;18249095;18347018;18396277;18426980;18653540;18662984;18669648;18838382;19269969;19293402;19494238;19581409;19605563;19673492;19690332;19713215;19807924;19934221;20400958;20460433;20530532;20627800;20679435;20810653;21148482;21151158;21378159;21542010;21565175;21613211;21621533;21730051;21865595;218813;21989057;22004470;22096251;22298643;22407364;22475431;22608513;22734669;22970203;23209303;23255595;23288169;23434736;23481700;23572525;23707487;23718289;23757206;23870057;23940355;24086303;24259668;24335996;24352656;24623723;24659802;24715725;24859002;24933155;24960694;25024229;25211221;25418920;25428919;25505266;25576301;25645385;25704760;25721503;25795300;25862245;25880248;26016997;26129894;26154972;26529257;26845023;26887924;26992070;27117132;27145964;27216196;27481945;27555588;27566826;27600516;27713499;27806292;27846572;27920218;28114311;28196833;28218747;28228285;28657654;28832583;28904123;29089502;29358323;29382922;29393594;29437277;29557506;29786170;30315122;30410026;30429286;30853411;31389670;31844290;31871319;32157095;32203420;32357974;32387766;32488085;32502341;32938616;32938750;32983136;33123756;33141586;33298915;33592498;33717175;33912179;33968037;33981976;3409321;34171305;34185709;34211107;34357683;34405274;34932366;35051231;35254053;35580925;36010968;36215666;36822513;37541260;37938771;38443923;38526744;39531497;7476457;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8662638;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8816476;8939998;8990121;8994827;9013646;9065479;9099726;9113980;9230307;9305890;9326583;9331217;9422515;9438849;9490638;9497316;9582072;9659915;9670022;9705280;9792683;9822598;9822605;9843499;9927674;9988689", "class_list": "", "function": "Functions as a guanine nucleotide exchange factor (GEF) that promotes the exchange of GDP to GTP, converting inactive GDP-bound small GTPases into their active GTP-bound form (PubMed:12628187, PubMed:16464467). Involved in regulation of adherens junction between cells (PubMed:12628187). Plays a role in cell migration (PubMed:20679435)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Genetic variations in DOCK4 contribute to schizophrenia susceptibility in a Chinese cohort: A genetic neuroimaging study., [RefSeq, PubMed]; Has a higher guanine nucleotide exchange factor activity compared to other isoforms., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly., [RefSeq, PubMed]; Integration analysis of lncRNA and mRNA expression data identifies DOCK4 as a potential biomarker for elderly osteoporosis. Publication Status: Online-Only, [RefSeq, PubMed]; Taken together, these results suggest that Dock4 plays an important role in the regulation of cell migration through activation of Rac1, and that RhoG is a key upstream regulator for Dock4., [RefSeq, PubMed]; This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [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": 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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 72, "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": "O14584;O94824;Q8NB45", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0017124 SH3 domain binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding;GO:0030165 PDZ domain binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007264 small GTPase-mediated signal transduction;GO:0060326 cell chemotaxis;GO:1904754 positive regulation of vascular associated smooth muscle cell migration;GO:1904694 negative regulation of vascular associated smooth muscle contraction;GO:0150052 regulation of postsynapse assembly", "synthesized_glycan_count": 0, "hit_score": 34.8, "record_id": "Q8N1I0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96G28-1", "uniprot_id": "CFA36_HUMAN", "mass": 39447.0, "length": 342, "protein_name": "Cilia- and flagella-associated protein 36", "gene_name": "CFAP36", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 36 isoform a", "refseq_ac": "NP_001269690", "gene_names_uniprotkb": "CFAP36; CCDC104; PRO189", "gene_names_refseq": "BARTL1; CCDC104; CFAP36", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 36; Coiled-coil domain-containing protein 104", "protein_names_refseq": "cilia- and flagella-associated protein 36 isoform a; coiled-coil domain containing 104; coiled-coil domain-containing protein 104", "tax_id": 9606, "disease": "", "pathway": " (hsa:112942)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;12975309;17525332;19413330;19680650;22085962;25576301;25892735;26992070;27846572;28832583;28834231;28904123;29493099;29557506;29769354;30315122;30779550;30833945;31844290;32157095;32897882;32938616;33298915;33592498;33717175;33968037;33981976;34087483;35051231;35580925;36241641;36284347;37938771;38253038", "class_list": "", "function": "May act as an effector for ARL3., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The association between Yo and CCDC104 antibodies in paraneoplastic neurological syndromes may indicate functional similarities., [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": 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": "Q53SF0;Q53ST9;Q6UY34", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0031514 motile cilium;GO:0005930 axoneme;GO:0097546 ciliary base;GO:0035869 ciliary transition zone", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q96G28-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UXH1-1", "uniprot_id": "CREL2_HUMAN", "mass": 38192.0, "length": 353, "protein_name": "Protein disulfide isomerase CRELD2", "gene_name": "CRELD2", "organism": "Human", "refseq_name": "protein disulfide isomerase CRELD2 isoform a precursor", "refseq_ac": "NP_001128573", "gene_names_uniprotkb": "CRELD2; PRO211", "gene_names_refseq": "CRELD2", "protein_names_uniprotkb": "Protein disulfide isomerase CRELD2; 5.3.4.1; Cysteine-rich with EGF-like domain protein 2", "protein_names_refseq": "cysteine rich with EGF like domains 2; cysteine-rich with EGF-like domain protein 2; protein disulfide isomerase CRELD2 isoform a precursor; protein disulfide isomerase CRELD2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79174)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;12975309;15340161;16238698;16919896;18477386;22661428;23090970;23584533;24190977;25418920;25813380;26811146;29393594;29632046;29741879;31844290;32265295;32387766;32451439;32502341;32938616;33968037;34171305;34411563;34509645;34549824;34725712;36936176;37074911;37340703;38665916;38753249;40596516", "class_list": "", "function": "CRELD2 can act as a specific regulator of alpha4beta2 nAChR expression, [RefSeq, PubMed]; CRELD2, endoplasmic reticulum stress, and human diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Creld2 function during unfolded protein response is essential for liver metabolism homeostasis., [RefSeq, PubMed]; Mapping of CRELD2 by FISH shows that it maps to 22q13 rather than the GenBank reported locus of 22p13., [RefSeq, PubMed]; Molecular characterization of the ER stress-inducible factor CRELD2., [RefSeq, PubMed]; Protein disulfide isomerase (By similarity). Might play a role in the unfolded protein response (By similarity). May regulate transport of alpha4-beta2 neuronal acetylcholine receptor (PubMed:16238698)., [UniProtKB, PubMed, UniProtKB]; ROCK-mediated selective activation of PERK signalling causes fibroblast reprogramming and tumour progression through a CRELD2-dependent mechanism. Erratum:[Nat Cell Biol. 2020 Jul;22(7):908. doi: 10.1038/s41556-020-0539-3. PMID: 32499616], [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": 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": 3, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 25, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A5GZA2;A5GZA3;A5GZA4;A5GZA5;A5GZA6;Q4W0V0;Q86UC0;Q9BU47", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0003756 protein disulfide isomerase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0031012 extracellular matrix", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q6UXH1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96IK5-1", "uniprot_id": "GMCL1_HUMAN", "mass": 58685.0, "length": 515, "protein_name": "Germ cell-less protein-like 1", "gene_name": "GMCL1", "organism": "Human", "refseq_name": "germ cell-less protein-like 1", "refseq_ac": "NP_848526", "gene_names_uniprotkb": "GMCL1; BTBD13; GCL; SPATA29", "gene_names_refseq": "BTBD13; GCL1; GCL; GMCL1; SPATA29", "protein_names_uniprotkb": "Germ cell-less protein-like 1; Spermatogenesis-associated protein 29", "protein_names_refseq": "germ cell-less homolog 1; germ cell-less protein-like 1; germ cell-less, spermatogenesis associated 1; spermatogenesis associated 29; spermatogenesis-associated protein 29", "tax_id": 9606, "disease": "", "pathway": " (hsa:64395)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "12493765;12927808;12954656;25576301;26992070;28832583;29393594;29557506;30379171;30429286;31844290;32983136;33592498;35051231;36010968;36284347;9878064", "class_list": "", "function": "GCL binds directly to emerin, and the emerin-repressor complexes might be regulated by barrier to autointegration factor, [RefSeq, PubMed]; Germ cell-less protein is not essential for the chromosomal events of meiosis but might be involved in later aspects of spermatogenesis., [RefSeq, PubMed]; MGCL-1 is a factor modulating MDM2-p53 axis by enhanced degradation of MDM2, [RefSeq, PubMed]; Mouse GMCL1 interacts with the DP component of the E2F transcription factor., [RefSeq, PubMed]; Possible function in spermatogenesis. Enhances the degradation of MDM2 and increases the amount of p53 probably by modulating the nucleocytoplasmic transport (By similarity)., [UniProtKB]; This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable of encoding a highly-related protein. [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": "Q9H826;Q9H8V7;Q9H927", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0016363 nuclear matrix", "go_biological_process": "GO:0007283 spermatogenesis;GO:0007281 germ cell development", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q96IK5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P22459-1", "uniprot_id": "KCNA4_HUMAN", "mass": 73257.0, "length": 653, "protein_name": "Potassium voltage-gated channel subfamily A member 4", "gene_name": "KCNA4", "organism": "Human", "refseq_name": "potassium voltage-gated channel subfamily A member 4", "refseq_ac": "NP_002224", "gene_names_uniprotkb": "KCNA4; KCNA4L", "gene_names_refseq": "HBK4; HK1; HPCN2; HUKII; KCNA4L; KCNA4; KCNA8; KV1.4; MCIDDS; PCN2", "protein_names_uniprotkb": "Potassium voltage-gated channel subfamily A member 4; HPCN2; Voltage-gated K(+) channel HuKII; Voltage-gated potassium channel HBK4; Voltage-gated potassium channel HK1; Voltage-gated potassium channel subunit Kv1.4", "protein_names_refseq": "cardiac potassium channel; fetal skeletal muscle potassium channel; potassium channel 2; potassium channel, voltage gated shaker related subfamily A, member 4; potassium voltage-gated channel subfamily A member 4; rapidly inactivating potassium channel; shaker-related potassium channel Kv1.4; type A potassium channel; voltage-gated K(+) channel HuKII; voltage-gated potassium channel HBK4; voltage-gated potassium channel HK1; voltage-gated potassium channel subunit Kv1.4", "tax_id": 9606, "disease": "episodic ataxia type 1 (Disease Ontology:DOID:0050989); epilepsy (Disease Ontology:DOID:1826); microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum (MONDO:MONDO:0032656)", "pathway": " (hsa:3739); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "15955806;17156368;19912772;19968958;2001794;20393197;21231794;2263489;27582084;28218747;29242379;29393594;29557506;30315122;32350084;32938616;34038243;35051231;35439054;36010968;36693615;8495559;9000078", "class_list": "", "function": "An epilepsy-associated KV1.2 charge-transfer-center mutation impairs KV1.2 and KV1.4 trafficking., [RefSeq, PubMed]; Human adrenal glomerulosa cells express K2P and GIRK potassium channels that are inhibited by ANG II and ACTH., [RefSeq, PubMed]; MiR-448 regulates potassium voltage-gated channel subfamily A member 4 (KCNA4) in ischemia and heart failure., [RefSeq, PubMed]; Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influence the duration of cardiac action potential.[provided by RefSeq, Mar 2011]., [RefSeq]; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:19912772, PubMed:8495559). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:8495559). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Homotetrameric KCNA4 forms a potassium channel that opens in response to membrane depolarization, followed by rapid spontaneous channel closure (PubMed:19912772, PubMed:8495559). Likewise, a heterotetrameric channel formed by KCNA1 and KCNA4 shows rapid inactivation (PubMed:17156368)., [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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "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": "", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005251 delayed rectifier potassium channel activity;GO:0030955 potassium ion binding;GO:0005249 voltage-gated potassium channel activity;GO:0099508 voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon;GO:0043197 dendritic spine;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0001508 action potential;GO:0006813 potassium ion transport;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "P22459-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N7H5-1", "uniprot_id": "PAF1_HUMAN", "mass": 59976.0, "length": 531, "protein_name": "RNA polymerase II-associated factor 1 homolog", "gene_name": "PAF1", "organism": "Human", "refseq_name": "RNA polymerase II-associated factor 1 homolog isoform 2", "refseq_ac": "NP_001243755", "gene_names_uniprotkb": "PAF1; PD2", "gene_names_refseq": "F23149_1; PAF1; PD2", "protein_names_uniprotkb": "RNA polymerase II-associated factor 1 homolog; Pancreatic differentiation protein 2; hPAF1", "protein_names_refseq": "PAF1 homolog, Paf1/RNA polymerase II complex component; Paf1, RNA polymerase II associated factor, homolog; RNA polymerase II-associated factor 1 homolog isoform 2; RNA polymerase II-associated factor 1 homolog; pancreatic differentiation protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54623); (R-HSA-112382); (R-HSA-674695); (R-HSA-75955); (R-HSA-8866654); (R-HSA-9920588); (R-HSA-9943411)", "pathway_count": 7, "publication_count": 169, "publication_id_list": "10199401;10199952;10562279;11237011;11313498;11313499;11740563;11859374;11884399;12676794;12682017;15215855;15215856;15489290;15647753;15923622;16024656;16263726;16307923;16372014;16491129;16868077;17081983;17108083;17130289;17234882;17433364;17717186;17726030;18042460;18316726;18359941;18452278;18496526;18669648;18719106;19208625;1939271;19410543;19723507;19754307;19952111;20068231;20159561;20178742;20211137;20541477;21203937;21329877;21329879;21396873;21554508;21566123;22021426;22046413;22419161;22569126;22922743;23186163;24173023;24397554;2449431;24662292;24714562;24715725;24807418;24979766;25030448;25170678;25576301;25880248;25892735;25936802;26086376;26154972;26210183;26216882;26344566;26350214;26375851;26659056;26711259;26811146;26992070;27397612;27569044;27597759;27600516;27661449;27798111;27832191;27846572;27862975;27920218;28228285;28510447;28764923;28832583;28904123;29242379;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30192525;30315122;30367041;30429286;30550790;30779550;31154438;31217245;31222486;31530632;31844290;31848261;31867016;32152943;32157095;32161166;32350084;32357974;32387766;32432721;32502341;32778820;32938616;32983136;33141586;33298915;33392160;33465208;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34433824;34561969;35051231;35318648;35561310;35580925;36284347;36709426;37493105;37572321;37938771;38057505;38182897;40596516;40914422;7660122;7660129;7660130;8370526;8625414;8991089;9450929;9489704", "class_list": "", "function": "Aberrant accumulation of Kras-dependent pervasive transcripts during tumor progression renders cancer cells dependent on PAF1 expression., [RefSeq, PubMed]; CNOT4 suppresses nonsmall cell lung cancer progression by promoting the degradation of PAF1., [RefSeq, PubMed]; Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both independently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Connects PAF1C with the RNF20/40 E3 ubiquitin-protein ligase complex. Involved in polyadenylation of mRNA precursors. Has oncogenic activity in vivo and in vitro., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Elevated PAF1-RAD52 axis confers chemoresistance to human cancers., [RefSeq, PubMed]; Formation of trimeric complex UbcH6 and RNF20/40 with PAF stimulates histone 2B monoubiquitination activity in vitro, [RefSeq, PubMed]; NELF and PAF1C complexes are core transcriptional machineries controlling colon cancer stemness., [RefSeq, PubMed]; Overexpression of PD2/hPaf1 is involved in cancer development., [RefSeq, PubMed]; RFX2 promotes tumor cell stemness through epigenetic regulation of PAF1 in spinal ependymoma., [RefSeq, PubMed]; This gene encodes a subunit of the polymerase associated factor (PAF1) complex. The PAF1 complex interacts with RNA polymerase II and plays a role in transcription elongation as well as histone modifications including ubiquitylation and methylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [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": 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": 11, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "M0QX35;O75239;Q9H166;Q9NUU9", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0000993 RNA polymerase II complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0001650 fibrillar center", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0071222 cellular response to lipopolysaccharide;GO:0016055 Wnt signaling pathway;GO:0019827 stem cell population maintenance", "synthesized_glycan_count": 0, "hit_score": 17.4, "record_id": "Q8N7H5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96KQ7-1", "uniprot_id": "EHMT2_HUMAN", "mass": 132370.0, "length": 1210, "protein_name": "Histone-lysine N-methyltransferase EHMT2", "gene_name": "EHMT2", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase EHMT2 isoform c", "refseq_ac": "NP_001276342", "gene_names_uniprotkb": "EHMT2; BAT8; C6orf30; G9A; KMT1C; NG36", "gene_names_refseq": "BAT8; C6orf30; EHMT2; G9A; GAT8; KMT1C; NG36", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase EHMT2; 2.1.1.-; 2.1.1.367; Euchromatic histone-lysine N-methyltransferase 2; H3-K9-HMTase 3; HLA-B-associated transcript 8; Histone H3-K9 methyltransferase 3; Lysine N-methyltransferase 1C; Protein G9a", "protein_names_refseq": "G9A histone methyltransferase; H3-K9-HMTase 3; HLA-B associated transcript 8; ankyrin repeat-containing protein; euchromatic histone-lysine N-methyltransferase 2; histone H3-K9 methyltransferase 3; histone-lysine N-methyltransferase EHMT2 isoform c; histone-lysine N-methyltransferase EHMT2; histone-lysine N-methyltransferase, H3 lysine-9 specific 3; lysine N-methyltransferase 1C", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); Kleefstra syndrome 1 (Disease Ontology:DOID:0060352); melanoma (Disease Ontology:DOID:1909); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung adenocarcinoma (Disease Ontology:DOID:3910); viral infectious disease (Disease Ontology:DOID:934); alopecia areata (Disease Ontology:DOID:986)", "pathway": " (hsa:10919); (R-HSA-2559582); (R-HSA-3214841); (R-HSA-427389); (R-HSA-6804760); (R-HSA-73762); (R-HSA-8853884); (R-HSA-8953750); (R-HSA-9843970)", "pathway_count": 9, "publication_count": 204, "publication_id_list": "10082553;10201372;10318916;10432220;10518217;10548110;10913176;10949293;11114305;11171983;11237011;11250901;11316813;11340163;11511361;11707778;11959841;12004135;12123582;12130538;12393749;12419226;12453418;12540855;12670868;12832467;12909625;14536086;14656967;14679213;14690610;14992727;15014447;15145825;15235609;15448695;1547496;15525938;15536069;15774718;15964846;16118227;16186106;16199523;16292313;16415881;16519522;16626623;16682010;16688220;16702210;16805913;16964243;17001316;17021013;17108971;17170761;17318177;17500065;17525332;17544230;17600109;17707229;17707234;18077418;18172012;18264113;18267069;18411265;18438403;18452278;18555777;18555778;18562691;18656484;18669648;18833288;19007248;19011621;19056828;19061646;19144645;19413330;19651622;19664995;19691289;19805069;19808676;20028861;20068231;20084102;20118233;20351173;20452968;20870725;20871592;21131967;21196496;21325273;21406692;21549307;21596310;21625555;21670496;21779408;2183031;21832073;21979375;22022377;22099308;22178396;22362889;22387026;22634325;22658674;22684280;22939622;23186163;23846687;23954429;2405250;24275569;24627085;24706756;24715725;24900801;25418920;25576301;25645385;25892735;26022416;26992070;27418187;27418309;27600516;27648579;27732843;27846572;27920218;2805069;28228285;28581500;28698370;28832583;28834231;29192276;29211708;29242379;29393594;29508533;29557506;29632046;29728366;29769354;30315122;30779550;31154438;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32897882;32938616;32976585;33009411;33141586;33392160;33537174;33592498;33968037;33981976;34019948;34087483;34171305;34185709;34278292;34561969;34932366;35051231;35580925;36010968;37739945;37858336;37894922;37938771;38065340;7491500;7623816;7801123;8234276;8384717;8413215;8413306;8457211;8617720;8688489;8884985;8939459;9501179;9689056;9704927", "class_list": "", "function": "Depletion of G9A attenuates imiquimod-induced psoriatic dermatitis via targeting EDAR-NF-kappaB signaling in keratinocyte. Publication Status: Online-Only, [RefSeq, PubMed]; Galectin-7 Induction by EHMT2 Inhibition Enhances Immunity in Microsatellite Stability Colorectal Cancer., [RefSeq, PubMed]; Histone Methyltransferases G9a/Ehmt2 and GLP/Ehmt1 Are Associated with Cell Viability and Poorer Prognosis in Neuroblastoma and Ewing Sarcoma. Publication Status: Online-Only, [RefSeq, PubMed]; Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones (PubMed:11316813, PubMed:20084102). Also mediates monomethylation of 'Lys-56' of histone H3 (H3K56me1) in G1 phase, leading to promote interaction between histone H3 and PCNA and regulating DNA replication (PubMed:22387026). Also weakly methylates 'Lys-27' of histone H3 (H3K27me) (PubMed:11316813). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. Also able to mono- and dimethylate histone H1-4 at 'Lys-26' (H1.4K26me1 and H1.4K26me2, respectively) (PubMed:19144645). In addition to the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53 (PubMed:20118233). Also methylates CDYL, WIZ, ACIN1, DNMT1, HDAC1, ERCC6, KLF12 and itself (PubMed:18438403)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Non-canonical function of histone methyltransferase G9a in the translational regulation of chronic inflammation., [RefSeq, PubMed]; This gene encodes a methyltransferase that methylates lysine residues of histone H3. Methylation of H3 at lysine 9 by this protein results in recruitment of additional epigenetic regulators and repression of transcription. This gene was initially thought to be two different genes, NG36 and G9a, adjacent to each other in the HLA locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 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": 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": 23, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B0UZY2;Q14349;Q5JP83;Q5JQ92;Q5JQA1;Q5JQG3;Q6PK06;Q96MH5;Q96QD0;Q9UQL8;Q9Y331", "ec_number_list": "2.3.2.24;2.3.2.23;2.1.1.-;2.1.1.367;3.6.4.-;2.3.2.27;3.5.1.-;3.5.1.98;2.1.1.366;2.1.1.359", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0002039 p53 binding;GO:0016279 protein-lysine N-methyltransferase activity;GO:1990841 promoter-specific chromatin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0000785 chromatin;GO:0016604 nuclear body", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006275 regulation of DNA replication;GO:0009267 cellular response to starvation;GO:0030261 chromosome condensation;GO:0040029 epigenetic regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 20.7, "record_id": "Q96KQ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14521-1", "uniprot_id": "DHSD_HUMAN", "mass": 17043.0, "length": 159, "protein_name": "Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial", "gene_name": "SDHD", "organism": "Human", "refseq_name": "succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform b precursor", "refseq_ac": "NP_001263432", "gene_names_uniprotkb": "SDHD; SDH4", "gene_names_refseq": "CBT1; CII-4; CWS3; MC2DN3; PGL1; PGL; PPGL1; QPs3; SDH4; SDHD; cybS", "protein_names_uniprotkb": "Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial; CII-4; CybS; Malate dehydrogenase [quinone] cytochrome b small subunit; QPs3; Succinate dehydrogenase complex subunit D; Succinate-ubiquinone oxidoreductase cytochrome b small subunit; Succinate-ubiquinone reductase membrane anchor subunit", "protein_names_refseq": "malate dehydrogenase [quinone] cytochrome b small subunit; succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform b precursor; succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial; succinate dehydrogenase complex subunit D integral membrane protein; succinate-ubiquinone oxidoreductase cytochrome b small subunit; succinate-ubiquinone reductase membrane anchor subunit", "tax_id": 9606, "disease": "paraganglioma (Disease Ontology:DOID:0050773); mitochondrial complex II deficiency (Disease Ontology:DOID:0060537); pheochromocytoma/paraganglioma syndrome 1 (Disease Ontology:DOID:0061216); Carney-Stratakis syndrome (Disease Ontology:DOID:0080533); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); mitochondrial complex 2 deficiency, nuclear type 3 (MONDO:MONDO:0030937)", "pathway": " (hsa:6392); (R-HSA-611105); (R-HSA-71403); (R-HSA-9854311)", "pathway_count": 4, "publication_count": 127, "publication_id_list": "10327278;10482792;1052766;10657297;10673423;10727444;11156372;11237011;11278619;11343322;11391796;11391798;11526495;11695836;12000816;12007193;12207025;12231006;12696072;12837546;13181903;1327877;14249115;14500403;14555658;14741580;14832224;14946179;15032977;15234968;15247478;15250827;15328326;15331017;15652751;15877282;15987702;16143825;16230336;16303743;16322339;16737955;16740313;17033964;17182618;17432878;17668387;17804857;17923681;186667;18678321;18806796;18914071;18987736;1946331;19628817;2005110;20167786;20435888;20847235;22416140;23150584;23270816;23291190;23564345;23747254;239860;24366607;24367056;24954416;24954417;25149476;25418920;25564869;26008905;26749241;26811146;26992070;27189937;27374498;27846572;27920218;28218747;28380382;28391595;28510447;28832583;28887308;28904123;29437277;29557506;30315122;30410026;30761759;30844107;31154438;31217245;31530632;31844290;32350084;32387766;32938616;33058874;33298915;33912179;33968037;34171305;34289383;34357683;34509645;35366151;36139014;36215666;36420423;37011647;37098072;4288886;8200987;8616157;9533030;9765290;9765291;9792106;9792662;9809442;9878551;9989622", "class_list": "", "function": "Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants. Review article, [RefSeq, PubMed]; Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:10482792, PubMed:9533030). SDH also oxidizes malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate (By similarity). Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerized into keto-oxaloacetate (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Studies indicate that mutations in the mitochondrial complex II structural subunit genes SDHB, SDHC and SDHD and the regulatory subunit gene SDHAF2 in many paraganglioma families. Review article, [RefSeq, PubMed]; This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 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": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6ND90;B3KQQ8;E9PIC0;E9PIG3;E9PQI9;Q53XW5;Q6IRW2", "ec_number_list": "", "go_molecular_function": "GO:0009055 electron transfer activity;GO:0046872 metal ion binding;GO:0020037 heme binding;GO:0008177 succinate dehydrogenase (quinone) activity;GO:0048039 ubiquinone binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005740 mitochondrial envelope;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0045273 respiratory chain complex II (succinate dehydrogenase)", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0006121 mitochondrial electron transport, succinate to ubiquinone", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "O14521-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NXW2-1", "uniprot_id": "DJB12_HUMAN", "mass": 41860.0, "length": 375, "protein_name": "DnaJ homolog subfamily B member 12", "gene_name": "DNAJB12", "organism": "Human", "refseq_name": "dnaJ homolog subfamily B member 12 isoform 1", "refseq_ac": "NP_001002762", "gene_names_uniprotkb": "DNAJB12", "gene_names_refseq": "DJ10; DNAJB12", "protein_names_uniprotkb": "DnaJ homolog subfamily B member 12", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily B, member 12; dnaJ homolog subfamily B member 12 isoform 1; dnaJ homolog subfamily B member 12", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858)", "pathway": " (hsa:54788)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "11237011;18802091;21148293;21150129;21673190;24675744;24732912;25631089;26992070;27397612;27916661;27920218;28063628;28228285;28514659;28536268;28832583;28834231;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30410026;30484775;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33563959;33592498;33717175;33912179;33968037;33981976;34171305;34509645;34932366;35051231;35580925;36241641;36284347;37925033;37938771", "class_list": "", "function": "(Microbial infection) In case of infection by polyomavirus, involved in the virus endoplasmic reticulum membrane penetration and infection (PubMed:21673190, PubMed:24675744)., [UniProtKB, PubMed, PubMed]; Acts as a co-chaperone with HSPA8/Hsc70; required to promote protein folding and trafficking, prevent aggregation of client proteins, and promote unfolded proteins to endoplasmic reticulum-associated degradation (ERAD) pathway (PubMed:21148293, PubMed:21150129). Acts by determining HSPA8/Hsc70's ATPase and polypeptide-binding activities (PubMed:21148293). Can also act independently of HSPA8/Hsc70: together with DNAJB14, acts as a chaperone that promotes maturation of potassium channels KCND2 and KCNH2 by stabilizing nascent channel subunits and assembling them into tetramers (PubMed:27916661). While stabilization of nascent channel proteins is dependent on HSPA8/Hsc70, the process of oligomerization of channel subunits is independent of HSPA8/Hsc70 (PubMed:27916661). When overexpressed, forms membranous structures together with DNAJB14 and HSPA8/Hsc70 within the nucleus; the role of these structures, named DJANGOs, is still unclear (PubMed:24732912)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; DNAJB12 and DNJB14 are non-redundant Hsp40 redox chaperones involved in endoplasmic reticulum protein reflux., [RefSeq, PubMed]; DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]., [RefSeq]; DNAJB12 is a novel mammalian ER-localized J-protein that plays a vital role in the quality control of membrane proteins, [RefSeq, PubMed]; Data suggest that endoplasmic reticulum (ER) stress-induced apoptosis in hepatoma cells is regulated by highly labile and ER-associated BCL-2 family member BOK, which is controlled at level of protein stability by ER-associated degradation components; DNAJB12 is required in hepatoma cells to maintain BOK at low levels and suppress ER stress. (DNAJB12 = DnaJ (Hsp40) homolog, subfamily B, member 12), [RefSeq, PubMed]; ER-located J-protein chaperones were identified as key regulators for the iogenesis and physiological function of ERG K+ channels. They regulate two distinct aspects of K+ channel biogenesis, the stabilization and assembly of channel subunits., [RefSeq, PubMed]; JB12 cooperates with cytosolic Hsc70 and the ubiquitin ligase RMA1 to target CFTR and CFTRDeltaF508 for degradation., [RefSeq, PubMed]; Over-expression of DNAJB12 or DNAJB14 causes the formation of elaborate membranous structures within cell nuclei, designated DJANGOS for DNAJ-associated nuclear globular structures. 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": 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": "B7Z7I3;Q9H6H0", "ec_number_list": "", "go_molecular_function": "GO:0030544 Hsp70 protein binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006457 protein folding;GO:0036503 ERAD pathway;GO:0071218 cellular response to misfolded protein;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9NXW2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6W6-1", "uniprot_id": "DUS10_HUMAN", "mass": 52642.0, "length": 482, "protein_name": "Dual specificity protein phosphatase 10", "gene_name": "DUSP10", "organism": "Human", "refseq_name": "dual specificity protein phosphatase 10", "refseq_ac": "NP_009138", "gene_names_uniprotkb": "DUSP10; MKP5", "gene_names_refseq": "DUSP10; MKP-5; MKP5", "protein_names_uniprotkb": "Dual specificity protein phosphatase 10; 3.1.3.16; 3.1.3.48; MAP kinase phosphatase 5; MKP-5; Mitogen-activated protein kinase phosphatase 5", "protein_names_refseq": "dual specificity phosphatase MKP-5; dual specificity protein phosphatase 10; map kinase phosphatase 5; mitogen-activated protein kinase phosphatase 5; serine/threonine specific protein phosphatase", "tax_id": 9606, "disease": "carcinoma (Disease Ontology:DOID:305); pancreatitis (Disease Ontology:DOID:4989)", "pathway": " (hsa:11221); (R-HSA-112409); (R-HSA-5675221); (R-HSA-9652817)", "pathway_count": 4, "publication_count": 62, "publication_id_list": "10206983;10391943;10415025;10490027;10597297;10702794;10757792;11237011;12583813;14724641;15664191;15851477;16806267;16892053;17097642;17208316;17400920;17724343;18294816;18332145;18515281;18547165;19091743;19158341;20332238;20463170;21779496;22375048;22569528;22730326;23105109;24390348;25314968;25568665;25597358;25631445;26992070;27760319;27846572;28904123;29557506;30429286;31217245;31844290;32157095;32387766;32488085;32938616;32983136;33141586;33232789;33717175;33912179;33936100;33968037;34509645;34782469;34932366;35051231;35488020;35580925;37387540", "class_list": "", "function": "DUSP10 is a novel immune-related biomarker connected with survival and cellular proliferation in lower-grade glioma., [RefSeq, PubMed]; De novo germline mutation in the dual specificity phosphatase 10 gene accelerates autoimmune diabetes., [RefSeq, PubMed]; Dual specificity protein phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the MAP kinase superfamily, which is associated with cellular proliferation and differentiation. Different members of this family of dual specificity phosphatases show distinct substrate specificities for MAP kinases, different tissue distribution and subcellular localization, and different modes of expression induction by extracellular stimuli. This gene product binds to and inactivates p38 and SAPK/JNK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]., [RefSeq]; MiRNA-363-3p/DUSP10/JNK axis mediates chemoresistance by enhancing DNA damage repair in diffuse large B-cell lymphoma., [RefSeq, PubMed]; Protein phosphatase involved in the inactivation of MAP kinases. Has a specificity for the MAPK11/MAPK12/MAPK13/MAPK14 subfamily. It preferably dephosphorylates p38., [UniProtKB, PubMed, PubMed, PubMed]; SETD8 potentiates constitutive ERK1/2 activation via epigenetically silencing DUSP10 expression in pancreatic 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": 2, "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": "D3DTB4;Q6GSI4;Q9H9Z5", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.21;3.1.3.18;3.1.3.-;3.1.3.5;3.1.3.2;2.7.11.24;2.7.10.1;3.1.3.67;3.1.3.53;3.1.3.52;3.1.3.27;3.1.3.86;3.1.3.36;3.1.3.74", "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity;GO:0048273 mitogen-activated protein kinase p38 binding;GO:0017017 MAP kinase tyrosine/serine/threonine phosphatase activity;GO:0016791 phosphatase activity;GO:0008330 protein tyrosine/threonine phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0010633 negative regulation of epithelial cell migration;GO:0016311 dephosphorylation;GO:0030336 negative regulation of cell migration;GO:0050680 negative regulation of epithelial cell proliferation;GO:0070373 negative regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q9Y6W6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14972-1", "uniprot_id": "VP26C_HUMAN", "mass": 33010.0, "length": 297, "protein_name": "Vacuolar protein sorting-associated protein 26C", "gene_name": "VPS26C", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 26C isoform 2", "refseq_ac": "NP_001317947", "gene_names_uniprotkb": "VPS26C; DCRA; DSCR3; DSCRA", "gene_names_refseq": "DCRA; DSCR3; DSCRA; VPS26C", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 26C; Down syndrome critical region protein 3; Down syndrome critical region protein A", "protein_names_refseq": "DSCR3 arrestin fold containing; Down syndrome critical region 3; Down syndrome critical region gene 3; Down syndrome critical region protein 3; Down syndrome critical region protein A; vacuolar protein sorting-associated protein 26C isoform 2; vacuolar protein sorting-associated protein 26C", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); asphyxia neonatorum (Disease Ontology:DOID:11088); arteriovenous malformation (Disease Ontology:DOID:11294); sciatic neuropathy (Disease Ontology:DOID:11446); Lewy body dementia (Disease Ontology:DOID:12217); Huntington's disease (Disease Ontology:DOID:12858); brain ischemia (Disease Ontology:DOID:2316); temporal lobe epilepsy (Disease Ontology:DOID:3328); cerebral infarction (Disease Ontology:DOID:3526); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:10311)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;24366607;25645385;26154972;26992070;27600516;27862975;27920218;28228285;28649982;28832583;28834231;28892079;28904123;29242379;29493099;29557506;29769354;30315122;30410026;30524438;30779550;31092671;31154438;31217245;31530632;31844290;31848261;32157095;32357974;32502341;32897882;32938616;32983136;33043033;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33968037;34932366;35051231;35154160;35580925;36010968;36241641;37172566;37938771;38062209;38459129;39587083;9399594", "class_list": "", "function": "(Microbial infection) The heterotrimeric retriever complex, in collaboration with the CCC complex, mediates the exit of human papillomavirus to the cell surface., [UniProtKB, PubMed]; Component of the commander complex that is essential for endosomal recycling of transmembrane cargos; the commander complex is composed of the CCC subcomplex and the retriever subcomplex (PubMed:37172566, PubMed:39587083, PubMed:38062209, PubMed:38459129). Component of the retriever complex, which is a heterotrimeric complex related to retromer cargo-selective complex (CSC) and essential for retromer-independent retrieval and recycling of numerous cargos such as integrin alpha-5/beta-1 (ITGA5:ITGB1) (PubMed:28892079, PubMed:37172566, PubMed:39587083, PubMed:38062209, PubMed:38459129). The recruitment of the retriever complex to the endosomal membrane involves CCC and WASH complexes (PubMed:28892079). In the endosomes, drives the retriever and recycling of NxxY-motif-containing cargo proteins by coupling to SNX17, a cargo essential for the homeostatic maintenance of numerous cell surface proteins associated with processes that include cell migration, cell adhesion, nutrient supply and cell signaling (PubMed:28892079, PubMed:39587083)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and cognitive disability. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [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": 4, "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": "B2R6T8;B7Z6B1;D3DSH4;Q2TAY6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005768 endosome;GO:0010008 endosome membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "O14972-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H305-1", "uniprot_id": "CDIP1_HUMAN", "mass": 21892.0, "length": 208, "protein_name": "Cell death-inducing p53-target protein 1", "gene_name": "CDIP1", "organism": "Human", "refseq_name": "cell death-inducing p53-target protein 1 isoform a", "refseq_ac": "NP_001185983", "gene_names_uniprotkb": "CDIP1; C16orf5; CDIP; LITAFL", "gene_names_refseq": "C16orf5; CDIP1; CDIP; I1; LITAFL", "protein_names_uniprotkb": "Cell death-inducing p53-target protein 1; Cell death involved p53-target; Cell death-inducing protein; LITAF-like protein; Lipopolysaccharide-induced tumor necrosis factor-alpha-like protein; Transmembrane protein I1", "protein_names_refseq": "LITAF-like protein; cell death inducing protein; cell death involved p53-target; cell death-inducing p53-target protein 1 isoform a; cell death-inducing p53-target protein 1; lipopolysaccharide-induced tumor necrosis factor-alpha-like protein; transmembrane protein I1", "tax_id": 9606, "disease": "", "pathway": " (hsa:29965)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "10570909;11230166;11237011;17599062;22549949;25502872;26375851;26992070;27582497;28218747;29314611;29437277;30315122;30410026;32350084;32387766;32897882;33503978;33592498;33691108;34357683;37547727;38928226", "class_list": "", "function": "Acts as an important p53/TP53-apoptotic effector. Regulates TNF-mediated apoptosis in a p53/TP53-dependent manner., [UniProtKB, PubMed]; CDIP expression correlates with sensitivity of cancer cells with TNFalpha, and CDIP seems to be a regulator of the p53-mediated death versus survival response of cells to TNFalpha., [RefSeq, PubMed]; Cytoprotective Role of Autophagy in CDIP1 Expression-Induced Apoptosis in MCF-7 Breast Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Role of ELK1 in regulating colorectal cancer progression: miR-31-5p/CDIP1 axis in CRC pathogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; The Novel ALG-2 Target Protein CDIP1 Promotes Cell Death by Interacting with ESCRT-I and VAPA/B. Publication Status: Online-Only, [RefSeq, PubMed]; These findings support a novel p53 --> CDIP --> TNF-alpha apoptotic pathway that directs apoptosis after exposure of cells to genotoxic stress., [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": 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": "A8K7M1;B4DFU1;B4DY75;D3DUD6;Q96ID8;Q9H0Q4;Q9P112", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0098574 cytoplasmic side of lysosomal membrane;GO:0098560 cytoplasmic side of late endosome membrane", "go_biological_process": "GO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9H305-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P24855-1", "uniprot_id": "DNAS1_HUMAN", "mass": 31434.0, "length": 282, "protein_name": "Deoxyribonuclease-1", "gene_name": "DNASE1", "organism": "Human", "refseq_name": "deoxyribonuclease-1 isoform 1 precursor", "refseq_ac": "NP_005214", "gene_names_uniprotkb": "DNASE1; DNL1; DRNI", "gene_names_refseq": "DNASE1; DNL1; DRNI", "protein_names_uniprotkb": "Deoxyribonuclease-1; 3.1.21.1; DNase I; Deoxyribonuclease I", "protein_names_refseq": "DNase I, lysosomal; Dornase alfa; deoxyribonuclease-1 isoform 1 precursor; human urine deoxyribonuclease I", "tax_id": 9606, "disease": "atrial fibrillation (Disease Ontology:DOID:0060224); primary sclerosing cholangitis (Disease Ontology:DOID:0060643); long QT syndrome 5 (Disease Ontology:DOID:0110647); primary biliary cholangitis (Disease Ontology:DOID:12236); autoimmune hepatitis (Disease Ontology:DOID:2048); Jervell-Lange Nielsen syndrome (Disease Ontology:DOID:2842); long QT syndrome (Disease Ontology:DOID:2843); seminoma (Disease Ontology:DOID:4440); congestive heart failure (Disease Ontology:DOID:6000); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:1773)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "10381379;11237011;11241278;11479590;11862315;16771825;20439745;2251263;2277032;28218747;28228285;29093164;29557506;30237853;30315122;31844290;3263467;33891165;33981976;34006390;34509645;34932366;35051231;35580925;35996518;37074911;37838927;38888971;7625762;7762978;7867802;9420147", "class_list": "", "function": "A dual-acting DNASE1/DNASE1L3 biologic prevents autoimmunity and death in genetic and induced lupus models. Publication Status: Online-Only, [RefSeq, PubMed]; Deoxyribonuclease 1 Q222R single nucleotide polymorphism and long-term mortality after acute myocardial infarction. Publication Status: Online-Only, [RefSeq, PubMed]; Serum endocuclease secreted into body fluids by a wide variety of exocrine and endocrine organs (PubMed:11241278, PubMed:2251263, PubMed:2277032). Expressed by non-hematopoietic tissues and preferentially cleaves protein-free DNA (By similarity). Among other functions, seems to be involved in cell death by apoptosis (PubMed:11241278). Binds specifically to G-actin and blocks actin polymerization (By similarity). Together with DNASE1L3, plays a key role in degrading neutrophil extracellular traps (NETs) (By similarity). NETs are mainly composed of DNA fibers and are released by neutrophils to bind pathogens during inflammation (By similarity). Degradation of intravascular NETs by DNASE1 and DNASE1L3 is required to prevent formation of clots that obstruct blood vessels and cause organ damage following inflammation (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed]; Serum endocuclease secreted into body fluids by a wide variety of exocrine and endocrine organs. Expressed by non-hematopoietic tissues and preferentially cleaves protein-free DNA. Among other functions, seems to be involved in cell death by apoptosis. Binds specifically to G-actin and blocks actin polymerization. Together with DNASE1L3, plays a key role in degrading neutrophil extracellular traps (NETs). NETs are mainly composed of DNA fibers and are released by neutrophils to bind pathogens during inflammation. Degradation of intravascular NETs by DNASE1 and DNASE1L3 is required to prevent formation of clots that obstruct blood vessels and cause organ damage following inflammation., [UniProtKB, UniProtKB]; Significant Association of DNASE1 Variable Number Tandem Repeats and Single Nucleotide Polymorphisms With Gastric Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The Nexus of cfDNA and Nuclease Biology. Review article, [RefSeq, PubMed]; The protective effect of DNase I in retinal vein occlusion. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly 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": 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": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 8851, "biomarker_type": "", "glycan_count": 3, "disease_count": 10, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DV35;Q14UU9;Q14UV0", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003779 actin binding;GO:0004530 deoxyribonuclease I activity;GO:0016787 hydrolase activity;GO:0004536 DNA nuclease activity", "go_cellular_component": "GO:0042588 zymogen granule;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0070062 extracellular exosome", "go_biological_process": "GO:0002283 neutrophil activation involved in immune response;GO:0070948 regulation of neutrophil mediated cytotoxicity;GO:0006915 apoptotic process;GO:0006308 DNA catabolic process;GO:0002673 regulation of acute inflammatory response", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "P24855-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5JSL3-1", "uniprot_id": "DOC11_HUMAN", "mass": 237671.0, "length": 2073, "protein_name": "Dedicator of cytokinesis protein 11", "gene_name": "DOCK11", "organism": "Human", "refseq_name": "dedicator of cytokinesis protein 11", "refseq_ac": "NP_653259", "gene_names_uniprotkb": "DOCK11; ZIZ2", "gene_names_refseq": "ACG; ADMIDX; DOCK11; ZIZ2; bB128O4.1", "protein_names_uniprotkb": "Dedicator of cytokinesis protein 11; ACG; Activated Cdc42-associated guanine nucleotide exchange factor; Zizimin-2", "protein_names_refseq": "Activated Cdc42-associated guanine nucleotide exchange factor, ACG; dedicator of cytokinesis protein 11; zizimin-2; zizimin2", "tax_id": 9606, "disease": "autoinflammatory disease, multisystem, with immune dysregulation, X-linked (MONDO:MONDO:0957494)", "pathway": " (hsa:139818); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-983231)", "pathway_count": 4, "publication_count": 376, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;10958683;11007481;11042108;11058585;11062261;11085924;11149925;11237011;11242053;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11707441;11744692;11751636;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11895428;11912491;11948177;11950885;11961559;12032298;12071859;12093360;12096337;12134158;12172552;12195014;12221096;12351724;12427746;12432077;12464619;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15020713;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15247287;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15710388;15728722;15850391;15858067;15897194;16002401;16054028;16112081;16116428;16184169;16217026;16243036;1630448;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17027967;17064668;17077126;17081983;17145773;17196961;17214551;17244649;17525332;17583407;17599059;17702745;17765681;17804252;17924679;17932950;17976533;18006505;18045877;18056264;18218625;18249095;18347018;18363964;18396277;18426980;18452278;18653540;18691976;18786931;18835169;18838382;18929667;19269969;19293402;19494238;19605563;19651622;19664994;19673492;19690332;19713215;19934221;20068231;20230923;20400958;20460433;20530532;20627800;20679435;20810653;21148482;21454492;21542010;21565175;21613211;21685891;21730051;21865595;218813;21989057;22004470;22096251;22298643;22407364;22461490;22475431;22571869;22608513;22734669;22970203;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23707487;23718289;23940355;24086303;24259668;24275569;24335996;24352656;24584464;24715725;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25576301;25645385;25704760;25721503;25795300;25862245;25880248;25892735;25963737;26129894;26154972;26299518;26375851;26529257;26598554;26758079;26768311;26845023;26887924;26992070;27096001;27117132;27145964;27216196;27397612;27481945;27555588;27566826;27600516;27655845;27713499;27798618;27806292;27846572;27862975;27920218;28028151;28114311;28196833;28218747;28228285;28514659;28825699;28832583;28834231;28860633;28904123;29089502;29242379;29351928;29358323;29382922;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30061681;30192525;30315122;30410026;30429286;30853411;31154438;31217245;31844290;31871319;32157095;32203420;32350084;32357974;32387766;32502341;32938616;32983136;33123756;33141586;33298915;33392160;33539396;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;3409321;34171305;34405274;34509645;34932366;35051231;35580925;36284347;36581221;36952639;37342957;37590454;37938771;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662638;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8816476;8939998;8990121;8994827;9013646;9065479;9099726;9113980;9230307;9268338;9305890;9326583;9331217;9405671;9422515;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9822598;9829970;9843499;9846874;9927674;9988689", "class_list": "", "function": "DOCK11 and DENND2A play pivotal roles in the maintenance of hepatitis B virus in host cells. Publication Status: Online-Only, [RefSeq, PubMed]; DOCK11 and Immune Disease., [RefSeq, PubMed]; DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity., [RefSeq, PubMed]; Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP (PubMed:37342957). Required for marginal zone (MZ) B-cell development, is associated with early bone marrow B-cell development, MZ B-cell formation, MZ B-cell number and marginal metallophilic macrophages morphology (By similarity). Facilitates filopodia formation through the activation of CDC42 (PubMed:37342957)., [UniProtKB, UniProtKB, PubMed]; Systemic Inflammation and Normocytic Anemia in DOCK11 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": 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": 22, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "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": "A6NMF0;Q66M66;Q6ZUJ5;Q86VU8;Q96MN3", "ec_number_list": "", "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0043547 positive regulation of GTPase activity;GO:0007264 small GTPase-mediated signal transduction;GO:0035023 regulation of Rho protein signal transduction;GO:0051491 positive regulation of filopodium assembly;GO:0001782 B cell homeostasis", "synthesized_glycan_count": 0, "hit_score": 38.0, "record_id": "Q5JSL3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60496-1", "uniprot_id": "DOK2_HUMAN", "mass": 45379.0, "length": 412, "protein_name": "Docking protein 2", "gene_name": "DOK2", "organism": "Human", "refseq_name": "docking protein 2 isoform a", "refseq_ac": "NP_003965", "gene_names_uniprotkb": "DOK2", "gene_names_refseq": "DOK2; p56DOK; p56dok-2", "protein_names_uniprotkb": "Docking protein 2; Downstream of tyrosine kinase 2; p56(dok-2)", "protein_names_refseq": "docking protein 2 isoform a; docking protein 2, 56kDa; docking protein 2, 56kD; downstream of tyrosine kinase 2; p56(dok-2)", "tax_id": 9606, "disease": "severe acute respiratory syndrome (Disease Ontology:DOID:2945); malignant astrocytoma (Disease Ontology:DOID:3069)", "pathway": " (hsa:9046); (R-HSA-210993); (R-HSA-8853659)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10051567;10428862;10448070;10508618;10521483;10995764;11000521;11002419;11191051;11237011;11237712;11360177;11390647;11447223;11470823;11491658;11566266;11607834;11689432;11886862;11969368;12242309;12771945;14665640;14749497;14766744;15044950;15144186;15286081;15569713;15592455;15893672;16497976;16895971;19690332;19901323;21850230;23186163;26992070;27920218;27975172;28649982;28832583;28834231;28841444;29150948;29242379;29393594;29557506;29632046;30429286;31154438;32387766;32983136;34505522;34509645;34932366;35580925;36010968;36284347;37938771;7478529;7665556;8628282;8631863;8637703;8662982;8663426;8674117;8980223;9047384;9192684;9299438;9407096;9478921;9491986;9632797;9690470;9764818;9764820;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. DOK2 may modulate the cellular proliferation induced by IL-4, as well as IL-2 and IL-3. May be involved in modulating Bcr-Abl signaling. Attenuates EGF-stimulated MAP kinase activation (By similarity)., [UniProtKB]; DOK2 overexpression in different brain regions is associated with poor prognosis in astrocytoma clinical cases., [RefSeq, PubMed]; Decreased DOK1/2 expressions associated with their promoter hypermethylations predict adverse prognosis in AML., [RefSeq, PubMed]; In this report, the authors demonstrated that the cellular adaptor proteins Dok-2 and Dok-1 are tyrosine phosphorylated upon herpes simplex virus 1 infection. In addition, herpes simplex virus 1 induced the selective degradation of Dok-2. Finally, Dok-2 interacts with herpes simplex virus 1 VP11/12, and that herpes simplex virus 1-induced tyrosine phosphorylation and degradation of Dok-2 require VP11/12., [RefSeq, PubMed]; Introduction to DOK2 and its potential role in cancer. Review article, [RefSeq, PubMed]; The protein encoded by this gene is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. This encoded protein binds p120 (RasGAP) from CML cells. [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": 13, "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": "Q8N5A4", "ec_number_list": "", "go_molecular_function": "GO:0005068 transmembrane receptor protein tyrosine kinase adaptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0007265 Ras protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "O60496-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q4LDG9-1", "uniprot_id": "DNAL1_HUMAN", "mass": 21533.0, "length": 190, "protein_name": "Dynein axonemal light chain 1", "gene_name": "DNAL1", "organism": "Human", "refseq_name": "dynein axonemal light chain 1 isoform 2", "refseq_ac": "NP_001188295", "gene_names_uniprotkb": "DNAL1; C14orf168", "gene_names_refseq": "C14orf168; CILD16; DNAL1; LC1", "protein_names_uniprotkb": "Dynein axonemal light chain 1; LC1", "protein_names_refseq": "dynein axonemal light chain 1 isoform 2", "tax_id": 9606, "disease": "primary ciliary dyskinesia 16 (Disease Ontology:DOID:0110613)", "pathway": " (hsa:83544)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;15845866;21496787;22018492;25418920;27920218;28832583;29393594;29601588;29786170;30779550;32350084;32938616;33691108;33936100;33968037;33981976;36841509", "class_list": "", "function": "DNAL1 and MAP4 may exert their functions in the HIV life cycle at reverse transcription, prior to nuclear translocation., [RefSeq, PubMed]; DNAL1 mutation could help to elucidate the interaction between the DNAL1 to dynein heavy chain and to tubulin., [RefSeq, PubMed]; Deletions in DNAL1 Cause Primary Ciliary Dyskinesia Across North American Indigenous Populations., [RefSeq, PubMed]; Identification of the human (DNAL1) ortholog of the Chlamydomonas LC1-gene; protein interaction studies demonstrated binding of DNAL1 and DNAH5; DNAL1 considered a candidate for primary ciliary dyskinesia, [RefSeq, PubMed]; Part of the multisubunit axonemal ATPase complexes that generate the force for cilia motility and govern beat frequency (By similarity). Component of the outer arm dynein (ODA). May be involved in a mechanosensory feedback mechanism controlling ODA activity based on external conformational cues by tethering the outer arm dynein heavy chain (DNAH5) to the microtubule within the axoneme (By similarity). Important for ciliary function in the airways and for the function of the cilia that produce the nodal flow essential for the determination of the left-right asymmetry (PubMed:21496787)., [UniProtKB, UniProtKB, PubMed, UniProtKB, 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. Alternate splicing results in multiple transcript variants.[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": 1, "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": "B2RD38;Q5JPB7;Q9BS43", "ec_number_list": "", "go_molecular_function": "GO:0043014 alpha-tubulin binding;GO:0045504 dynein heavy chain binding", "go_cellular_component": "GO:0005874 microtubule;GO:0036157 outer dynein arm;GO:0005930 axoneme;GO:0030286 dynein complex", "go_biological_process": "GO:0036158 outer dynein arm assembly", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q4LDG9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15700-1", "uniprot_id": "DLG2_HUMAN", "mass": 97552.0, "length": 870, "protein_name": "Disks large homolog 2", "gene_name": "DLG2", "organism": "Human", "refseq_name": "disks large homolog 2 isoform 1", "refseq_ac": "NP_001136171", "gene_names_uniprotkb": "DLG2", "gene_names_refseq": "DLG2; PPP1R58; PSD-93; PSD93; chapsyn-110", "protein_names_uniprotkb": "Disks large homolog 2; Channel-associated protein of synapse-110; Chapsyn-110; Postsynaptic density protein PSD-93", "protein_names_refseq": "channel-associated protein of synapse-110; channel-associated protein of synapses, 110kDa; discs, large homolog 2, chapsyn-110; disks large homolog 2 isoform 1; disks large homolog 2; postsynaptic density protein PSD-93; protein phosphatase 1, regulatory subunit 58", "tax_id": 9606, "disease": "adult T-cell leukemia/lymphoma (Disease Ontology:DOID:0050523); biliary tract benign neoplasm (Disease Ontology:DOID:0050625); small cell carcinoma (Disease Ontology:DOID:0050685); chorioamnionitis (Disease Ontology:DOID:0050697); obstructive sleep apnea (Disease Ontology:DOID:0050848); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); stroke (Disease Ontology:DOID:0051061); developmental disorder of mental health (Disease Ontology:DOID:0060037); benign neoplasm (Disease Ontology:DOID:0060072); chromosome 3q29 microdeletion syndrome (Disease Ontology:DOID:0060419); arteriovenous malformations of the brain (Disease Ontology:DOID:0060688); lymphoplasmacytic lymphoma (Disease Ontology:DOID:0060901); alcohol-associated liver disease (Disease Ontology:DOID:0070658); colorectal carcinoma (Disease Ontology:DOID:0080199); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); aortic valve disease 1 (Disease Ontology:DOID:0080333); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); COVID-19 (Disease Ontology:DOID:0080600); transverse myelitis (Disease Ontology:DOID:0080743); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); dry eye syndrome (Disease Ontology:DOID:10140); stomach cancer (Disease Ontology:DOID:10534); pre-eclampsia (Disease Ontology:DOID:10591); celiac disease (Disease Ontology:DOID:10608); Alzheimer's disease (Disease Ontology:DOID:10652); renal hypertension (Disease Ontology:DOID:1073); otitis media (Disease Ontology:DOID:10754); hypertension (Disease Ontology:DOID:10763); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); intracranial aneurysm (Disease Ontology:DOID:10941); cholesteatoma of middle ear (Disease Ontology:DOID:10964); anogenital venereal wart (Disease Ontology:DOID:11168); spondyloarthropathy (Disease Ontology:DOID:1123); disseminated intravascular coagulation (Disease Ontology:DOID:11247); sciatic neuropathy (Disease Ontology:DOID:11446); gestational diabetes (Disease Ontology:DOID:11714); prediabetes syndrome (Disease Ontology:DOID:11716); iron deficiency anemia (Disease Ontology:DOID:11758); primary biliary cholangitis (Disease Ontology:DOID:12236); beta thalassemia (Disease Ontology:DOID:12241); alcoholic hepatitis (Disease Ontology:DOID:12351); Graves' disease (Disease Ontology:DOID:12361); ataxia telangiectasia (Disease Ontology:DOID:12704); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); quadriplegia (Disease Ontology:DOID:12835); autistic disorder (Disease Ontology:DOID:12849); Huntington's disease (Disease Ontology:DOID:12858); Sjogren's syndrome (Disease Ontology:DOID:12894); keratoconjunctivitis sicca (Disease Ontology:DOID:12895); uveitis (Disease Ontology:DOID:13141); Behcet's disease (Disease Ontology:DOID:13241); eclampsia (Disease Ontology:DOID:13593); polyneuropathy (Disease Ontology:DOID:1389); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); major depressive disorder (Disease Ontology:DOID:1470); aggressive periodontitis (Disease Ontology:DOID:1474); cystic fibrosis (Disease Ontology:DOID:1485); alcohol use disorder (Disease Ontology:DOID:1574); diffuse scleroderma (Disease Ontology:DOID:1580); thrombocytopenia (Disease Ontology:DOID:1588); depressive disorder (Disease Ontology:DOID:1596); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); neovascular glaucoma (Disease Ontology:DOID:1687); retinal vein occlusion (Disease Ontology:DOID:1727); pancreatic cancer (Disease Ontology:DOID:1793); epilepsy (Disease Ontology:DOID:1826); impotence (Disease Ontology:DOID:1875); hepatitis C (Disease Ontology:DOID:1883); hypogonadism (Disease Ontology:DOID:1924); rectum cancer (Disease Ontology:DOID:1993); hyperinsulinism (Disease Ontology:DOID:2018); hepatitis B (Disease Ontology:DOID:2043); multiple sclerosis (Disease Ontology:DOID:2377); idiopathic interstitial pneumonia (Disease Ontology:DOID:2797); asthma (Disease Ontology:DOID:2841); glucosephosphate dehydrogenase deficiency (Disease Ontology:DOID:2862); severe acute respiratory syndrome (Disease Ontology:DOID:2945); pulmonary tuberculosis (Disease Ontology:DOID:2957); familial Mediterranean fever (Disease Ontology:DOID:2987); acute kidney failure (Disease Ontology:DOID:3021); carcinoma (Disease Ontology:DOID:305); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); gingivitis (Disease Ontology:DOID:3087); spinal cord disease (Disease Ontology:DOID:319); central nervous system disease (Disease Ontology:DOID:331); periodontal disease (Disease Ontology:DOID:3388); coronary artery disease (Disease Ontology:DOID:3393); peripheral vascular disease (Disease Ontology:DOID:341); middle cerebral artery infarction (Disease Ontology:DOID:3525); gastric adenocarcinoma (Disease Ontology:DOID:3717); systemic scleroderma (Disease Ontology:DOID:418); hyperglycemia (Disease Ontology:DOID:4195); conjunctival disease (Disease Ontology:DOID:4251); macular retinal edema (Disease Ontology:DOID:4449); keratitis (Disease Ontology:DOID:4677); cholangiocarcinoma (Disease Ontology:DOID:4947); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); retinal detachment (Disease Ontology:DOID:5327); ovarian hyperstimulation syndrome (Disease Ontology:DOID:5425); cochlear disease (Disease Ontology:DOID:5463); pneumonia (Disease Ontology:DOID:552); kidney disease (Disease Ontology:DOID:557); proteinuria (Disease Ontology:DOID:576); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); amphetamine abuse (Disease Ontology:DOID:670); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); hepatocellular carcinoma (Disease Ontology:DOID:684); ankylosing spondylitis (Disease Ontology:DOID:7147); periodontitis (Disease Ontology:DOID:824); peritonitis (Disease Ontology:DOID:8283); corneal ulcer (Disease Ontology:DOID:8463); retinal artery occlusion (Disease Ontology:DOID:8483); lung disease (Disease Ontology:DOID:850); Hodgkin's lymphoma (Disease Ontology:DOID:8567); Kaposi's sarcoma (Disease Ontology:DOID:8632); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); alcoholic gastritis (Disease Ontology:DOID:8680); Crohn's disease (Disease Ontology:DOID:8778); neuromyelitis optica (Disease Ontology:DOID:8869); diabetic retinopathy (Disease Ontology:DOID:8947); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); epididymitis (Disease Ontology:DOID:9402); acute myocardial infarction (Disease Ontology:DOID:9408); allergic asthma (Disease Ontology:DOID:9415); steatotic liver disease (Disease Ontology:DOID:9452); neovascular inflammatory vitreoretinopathy (Disease Ontology:DOID:9719); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1740); (R-HSA-438066); (R-HSA-442982); (R-HSA-5673001); (R-HSA-6794361); (R-HSA-9609736); (R-HSA-9617324); (R-HSA-9620244)", "pathway_count": 8, "publication_count": 110, "publication_id_list": "10373510;10508167;10869344;11027663;11090077;11136978;11237011;11313946;11546808;11604393;11702783;12032311;12094235;12121613;12807427;12815021;14506247;14622581;14707138;15304517;15356145;1545823;15540461;15546878;16242404;16624946;16627759;16630835;16684964;16846852;1716764;17384233;17855605;17897391;17997397;17998941;18775330;18812509;18829961;1898771;19118189;19279408;19807924;19920141;20064387;20064388;20478380;20519524;21102635;21282647;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23103841;23186163;23303910;23443682;23575685;24897931;24937142;25219551;25378172;25781681;26085527;28228285;28449373;28778966;29393594;29557506;30379171;30590034;31135801;31844290;32157095;32357974;32897882;32938616;32983136;33968037;33981976;34185709;35051231;35580925;36010968;37860969;38234042;6148751;7695896;7736595;7809086;7935463;7972015;8052307;8394845;8493579;8576240;8665852;8710374;8755482;8939933;9069287;9604935;9648857;9808458;9927426;9927700", "class_list": "", "function": "DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism., [RefSeq, PubMed]; Glioma stem cell-derived exosomes induce the transformation of astrocytes via the miR-3065-5p/DLG2 signaling axis., [RefSeq, PubMed]; Required for perception of chronic pain through NMDA receptor signaling. Regulates surface expression of NMDA receptors in dorsal horn neurons of the spinal cord. Interacts with the cytoplasmic tail of NMDA receptor subunits as well as inward rectifying potassium channels. Involved in regulation of synaptic stability at cholinergic synapses. Part of the postsynaptic protein scaffold of excitatory synapses (By similarity)., [UniProtKB]; This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [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": 17, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 135, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7WNY8;F8W9V6;Q59G57;Q5H9Q4;Q68CQ8;Q6ZTA8", "ec_number_list": "", "go_molecular_function": "GO:0004385 GMP kinase activity;GO:0019901 protein kinase binding;GO:0019900 kinase binding;GO:0035255 ionotropic glutamate receptor binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0014069 postsynaptic density;GO:0016020 membrane", "go_biological_process": "GO:0099641 anterograde axonal protein transport;GO:0007399 nervous system development;GO:0007268 chemical synaptic transmission;GO:0098609 cell-cell adhesion;GO:0043113 receptor clustering", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q15700-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q09470-1", "uniprot_id": "KCNA1_HUMAN", "mass": 56466.0, "length": 495, "protein_name": "Potassium voltage-gated channel subfamily A member 1", "gene_name": "KCNA1", "organism": "Human", "refseq_name": "potassium voltage-gated channel subfamily A member 1", "refseq_ac": "NP_000208", "gene_names_uniprotkb": "KCNA1", "gene_names_refseq": "AEMK; EA1; HBK1; HUK1; KCNA1; KV1.1; MBK1; MK1; RBK1", "protein_names_uniprotkb": "Potassium voltage-gated channel subfamily A member 1; Voltage-gated K(+) channel HuKI; Voltage-gated potassium channel HBK1; Voltage-gated potassium channel subunit Kv1.1", "protein_names_refseq": "potassium channel, voltage gated shaker related subfamily A, member 1; potassium voltage-gated channel subfamily A member 1; potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia); voltage-gated K(+) channel HuKI; voltage-gated potassium channel HBK1; voltage-gated potassium channel subunit Kv1.1", "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:3736); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10355668;11013453;11026449;11086297;11237011;12077175;12907802;15532032;15837928;17136396;17156368;17917103;19307729;19903818;19912772;19968958;20393197;21106501;21231794;2128063;21483673;23774215;23903368;27864847;29242379;31154438;33059680;33066705;33078631;33392160;38570113;7842011;8541859;8845167;8871592;8910593;9600245", "class_list": "", "function": "A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel. Publication Status: Online-Only, [RefSeq, PubMed]; Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia., [RefSeq, PubMed]; Hypermethylated promoters of genes UNC5D and KCNA1 as potential novel diagnostic biomarkers in colorectal cancer., [RefSeq, PubMed]; This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008]., [RefSeq]; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the kidney (PubMed:19903818, PubMed:8845167). Contributes to the regulation of the membrane potential and nerve signaling, and prevents neuronal hyperexcitability (PubMed:17156368). Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:19912772). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNA7, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:12077175, PubMed:17156368). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation of delayed rectifier potassium channels (PubMed:12077175, PubMed:17156368). In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Homotetrameric KCNA1 forms a delayed-rectifier potassium channel that opens in response to membrane depolarization, followed by slow spontaneous channel closure (PubMed:19307729, PubMed:19903818, PubMed:19912772, PubMed:19968958). In contrast, a heterotetrameric channel formed by KCNA1 and KCNA4 shows rapid inactivation (PubMed:17156368). Regulates neuronal excitability in hippocampus, especially in mossy fibers and medial perforant path axons, preventing neuronal hyperexcitability. Response to toxins that are selective for KCNA1, respectively for KCNA2, suggests that heteromeric potassium channels composed of both KCNA1 and KCNA2 play a role in pacemaking and regulate the output of deep cerebellar nuclear neurons (By similarity). May function as down-stream effector for G protein-coupled receptors and inhibit GABAergic inputs to basolateral amygdala neurons (By similarity). May contribute to the regulation of neurotransmitter release, such as gamma-aminobutyric acid (GABA) release (By similarity). Plays a role in regulating the generation of action potentials and preventing hyperexcitability in myelinated axons of the vagus nerve, and thereby contributes to the regulation of heart contraction (By similarity). Required for normal neuromuscular responses (PubMed:11026449, PubMed:17136396). Regulates the frequency of neuronal action potential firing in response to mechanical stimuli, and plays a role in the perception of pain caused by mechanical stimuli, but does not play a role in the perception of pain due to heat stimuli (By similarity). Required for normal responses to auditory stimuli and precise location of sound sources, but not for sound perception (By similarity). The use of toxins that block specific channels suggest that it contributes to the regulation of the axonal release of the neurotransmitter dopamine (By similarity). Required for normal postnatal brain development and normal proliferation of neuronal precursor cells in the brain (By similarity). Plays a role in the reabsorption of Mg(2+) in the distal convoluted tubules in the kidney and in magnesium ion homeostasis, probably via its effect on the membrane potential (PubMed:19307729, PubMed:23903368)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 11, "reported_glycation": 0, "reported_snv": 36, "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": "A6NM83;Q3MIQ9", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005251 delayed rectifier potassium channel activity;GO:0097718 disordered domain specific binding;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0001964 startle response;GO:0086011 membrane repolarization during action potential;GO:0050976 detection of mechanical stimulus involved in sensory perception of touch;GO:0023041 neuronal signal transduction;GO:0019228 neuronal action potential", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q09470-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P56179-1", "uniprot_id": "DLX6_HUMAN", "mass": 19708.0, "length": 175, "protein_name": "Homeobox protein DLX-6", "gene_name": "DLX6", "organism": "Human", "refseq_name": "homeobox protein DLX-6", "refseq_ac": "NP_005213", "gene_names_uniprotkb": "DLX6", "gene_names_refseq": "DLX6", "protein_names_uniprotkb": "Homeobox protein DLX-6", "protein_names_refseq": "distal-less homeo box 6; homeobox protein DLX-6", "tax_id": 9606, "disease": "split hand-foot malformation 1 (Disease Ontology:DOID:0090021)", "pathway": " (hsa:1750); (R-HSA-8939902)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10.1101/2023.09.13.557529;10215629;10572046;10911365;11237011;11711438;12000792;12193642;12738770;12923053;15703179;16115867;16421188;16728642;17786208;18541707;21931630;22422618;23403054;23943595;25260729;26091038;26778333;31646562;32239379;32951317;33215805;34508305;7907794", "class_list": "", "function": "DLX6 Antisense RNA 1 Modulates Glucose Metabolism and Cell Growth in Gastric Cancer by Targeting microRNA-4290., [RefSeq, PubMed]; DLX6 promotes cell proliferation and survival in oral squamous cell carcinoma., [RefSeq, PubMed]; In mice, Dlx6 acts as an intermediary between endothelin-1 signaling and transcription of the basic helix-loop-helix transcription factor dHAND during craniofacial morphogenesis., [RefSeq, PubMed]; In mice, deletion of Dlx5 and Dlx6 results in skull repatterning, including a homeotic transformation of the lower jaw into an upper jaw, and supports a model of patterning within branchial arches that relies on a nested pattern of Dlx gene expression., [RefSeq, PubMed]; Long non-coding RNA DLX6-AS1 mediates proliferation, invasion and apoptosis of endometrial cancer cells by recruiting p300/E2F1 in DLX6 promoter region., [RefSeq, PubMed]; Research progress of DLX6-AS1 in human cancers. Review article, [RefSeq, PubMed]; The up-regulated lncRNA DLX6-AS1 in colorectal cancer promotes cell proliferation, invasion and migration via modulating PI3K/AKT/mTOR pathway., [RefSeq, PubMed]; This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. This family is comprised of at least 6 different members that encode proteins with roles in forebrain and craniofacial development. This gene is in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7. [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "A4D1I2;B3KSQ0;J3KR92;Q3ZAR6;Q9UPL2", "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:1990837 sequence-specific double-stranded DNA binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0001501 skeletal system development;GO:0048706 embryonic skeletal system development", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "P56179-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRD9-1", "uniprot_id": "DUOX1_HUMAN", "mass": 177235.0, "length": 1551, "protein_name": "Dual oxidase 1", "gene_name": "DUOX1", "organism": "Human", "refseq_name": "dual oxidase 1 precursor", "refseq_ac": "NP_059130", "gene_names_uniprotkb": "DUOX1; DUOX; LNOX1; THOX1", "gene_names_refseq": "DUOX1; LNOX1; NOXEF1; THOX1", "protein_names_uniprotkb": "Dual oxidase 1; 1.-.-.-; 1.11.1.-; 1.6.3.1; Large NOX 1; Long NOX 1; NADPH thyroid oxidase 1; Thyroid oxidase 1", "protein_names_refseq": "NADPH thyroid oxidase 1; dual oxidase 1 precursor; flavoprotein NADPH oxidase; large NOX 1; long NOX 1; nicotinamide adenine dinucleotide phosphate oxidase", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); primary bacterial infectious disease (Disease Ontology:DOID:0050338); hypothyroidism (Disease Ontology:DOID:1459); phenylketonuria (Disease Ontology:DOID:9281)", "pathway": " (hsa:53905); (R-HSA-209968)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10806195;11237011;11514595;11822874;12824283;15210697;15561711;15972824;16111680;16651268;16910871;1722671;18491316;19144650;19386603;19460756;23481700;25892735;29508533;29769354;30620550;32157095;32938616;33420071;33717175;34168077;34171305;34784249;35051231;35580925;36284347;37536262;38750444;38936256;39126279;39259123;67547;8806637", "class_list": "", "function": "Ferroptosis-related genes DUOX1 and HSD17B11 affect tumor microenvironment and predict overall survival of lung adenocarcinoma patients., [RefSeq, PubMed]; Generates hydrogen peroxide (H2O2) which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO (PubMed:10806195, PubMed:15972824). Plays a role in thyroid hormone synthesis (PubMed:10806195). Also required for lactoperoxidase-mediated antimicrobial defense at the surface of mucosa (PubMed:12824283). Antimicrobial agent hypothiocyanite (OSCN-), which is produced by LPO from DUOX1-derived H2O2, promotes influenza virus inactivation by reducing viral binding to and entry into host cells (PubMed:34168077). Promotes antiviral immunity by increasing airway cytokine levels, promoting innate immune cell recruitment and reducing airway epithelial cell apoptosis (By similarity). In response to bacterial stimuli, activated by ATP and promotes EGFR/ERK signaling, ADAM17 activation, and EGFR ligand shedding, leading to enhanced CXCL8/IL8 expression and secretion in airway epithelia (PubMed:19386603). Synthesizes NAADP from its reduced NAADPH form which promotes Ca(2+) signaling during T cell activation (PubMed:34784249). In addition to its oxidase activity, has also been shown to have peroxidase activity through its N-terminal peroxidase-like domain (PubMed:11514595). However, another study showed that the isolated peroxidase-like domain does not bind heme and has no intrinsic peroxidase activity (PubMed:19460756)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; NADPH Alters DUOX1 Calcium Responsiveness., [RefSeq, PubMed]; The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes proteins encoded by this gene and the similar DUOX2 gene. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. This protein generates hydrogen peroxide and thereby plays a role in the activity of thyroid peroxidase, lactoperoxidase, and in lactoperoxidase-mediated antimicrobial defense at mucosal surfaces. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2012]., [RefSeq]; Upregulated dual oxidase 1-induced oxidative stress and caspase-1-dependent pyroptosis reflect the etiologies of heart failure. Publication Status: Online-Only, [RefSeq, PubMed]; ZC3H13 reduced DUOX1-mediated ferroptosis in laryngeal squamous cell carcinoma cells through m6A-dependent modification., [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": 0, "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": 3, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A6NH28;Q14C94;Q6ZMB3;Q6ZR09;Q9NZC1", "ec_number_list": "1.6.3.-;1.11.1.8;1.14.13.-;1.6.3.1;1.14.13.8;1.-.-.-;1.14.13.225;1.6.99.1;1.11.1.-", "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0071949 FAD binding;GO:0005509 calcium ion binding;GO:0020037 heme binding;GO:0016174 NAD(P)H oxidase H2O2-forming activity", "go_cellular_component": "GO:0043020 NADPH oxidase complex;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0031252 cell leading edge", "go_biological_process": "GO:0042335 cuticle development;GO:0006952 defense response;GO:0006979 response to oxidative stress;GO:0090303 positive regulation of wound healing;GO:0042446 hormone biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9NRD9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TCZ2-1", "uniprot_id": "C99L2_HUMAN", "mass": 27986.0, "length": 262, "protein_name": "CD99 antigen-like protein 2", "gene_name": "CD99L2", "organism": "Human", "refseq_name": "CD99 antigen-like protein 2 isoform 4 precursor", "refseq_ac": "NP_001171737", "gene_names_uniprotkb": "CD99L2; MIC2L1; PRO4486", "gene_names_refseq": "CD99B; CD99L2; MIC2L1", "protein_names_uniprotkb": "CD99 antigen-like protein 2; MIC2-like protein 1", "protein_names_refseq": "CD99 antigen-like protein 2 isoform 4 precursor; CD99 antigen-like protein 2; MIC2 like 1; MIC2-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:83692); (R-HSA-202733)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10606205;10764623;11207550;11230166;11237011;11256994;11564780;11779189;11812992;12070135;12208882;12469115;12706889;12782713;12975309;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;18707149;19279206;20068231;21193412;21659548;23301498;23481700;23584533;23945545;24043627;24764293;25326458;2538457;25502872;25576301;25666757;25813380;26992070;27846572;28832583;29242379;29557506;30429286;30459171;31844290;32157095;32350084;32488085;32938616;32983136;33141586;33214551;33298915;33592498;33912179;34019948;34171305;35051231;35154160;35251023;35580925;35914838;36010968;36284347;468991;7509040;7521878;8163559;8166770;8314844;9052782;9169774;9242610;9295288;9382878;9693095;9763524", "class_list": "", "function": "Human CD99L2 Regulates a Unique Step in Leukocyte Transmigration., [RefSeq, PubMed]; Plays a role in a late step of leukocyte extravasation helping cells to overcome the endothelial basement membrane. Acts at the same site as, but independently of, PECAM1 (By similarity). Homophilic adhesion molecule, but these interactions may not be required for cell aggregation (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a cell-surface protein that is similar to CD99. A similar protein in mouse functions as an adhesion molecule during leukocyte extravasation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]., [RefSeq]; This study identified predicted pathogenic, hemizygous variants on chromosome X in disease genes CD99L2., [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": 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": 14, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 14, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "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": 13, "binding_glycan_count": 0, "secondary_ac_list": "A8K2D5;A8K5R0;B3KWG2;B4DDL7;E7EMK5;E9PD27;Q8TAW2;Q8TCZ0;Q8TCZ1;Q9BQG9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0005925 focal adhesion;GO:0009986 cell surface", "go_biological_process": "GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "Q8TCZ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UKB3-1", "uniprot_id": "DJC12_HUMAN", "mass": 23415.0, "length": 198, "protein_name": "DnaJ homolog subfamily C member 12", "gene_name": "DNAJC12", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 12 isoform a", "refseq_ac": "NP_068572", "gene_names_uniprotkb": "DNAJC12; JDP1", "gene_names_refseq": "DNAJC12; HPANBH4; JDP1", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 12; J domain-containing protein 1", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 12; J domain containing protein 1 (JDP1); J domain protein 1; dnaJ homolog subfamily C member 12 isoform a; dnaJ homolog subfamily C member 12; j domain-containing protein 1", "tax_id": 9606, "disease": "hyperphenylalaninemia due to DNAJC12 deficiency (MONDO:MONDO:0044304)", "pathway": " (hsa:56521)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10760603;11237011;16385451;16391838;17322306;18669648;19651622;23186163;24122553;26758079;27920218;28132689;28218747;28228285;28510447;28794131;28904123;29380259;29437277;30139987;30179615;30315122;30410026;31844290;32333439;32519510;34014443;34171305;34561969;35251023;36897462;37283250;38014588;38248634;38306757;39584997;39894887", "class_list": "", "function": "A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency. Publication Status: Online-Only, [RefSeq, PubMed]; DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant. Erratum:[Metab Brain Dis. 2021 Aug;36(6):1411. doi: 10.1007/s11011-021-00759-8. PMID: 34106389], [RefSeq, PubMed]; DNAJC12 causes breast cancer chemotherapy resistance by repressing doxorubicin-induced ferroptosis and apoptosis via activation of AKT., [RefSeq, PubMed]; DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration. Review article, [RefSeq, PubMed]; JDP1 is a estrogen target gene and that its expression might be used as a marker of the estrogen transactivation activity, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Probable co-chaperone that participates in the proper folding of biopterin-dependent aromatic amino acid hydroxylases, which include phenylalanine-4-hydroxylase (PAH), tyrosine 3-monooxygenase (TH) and peripheral and neuronal tryptophan hydroxylases (TPH1 and TPH2)., [UniProtKB, PubMed, PubMed]; Restless legs syndrome in DNAJC12 deficiency., [RefSeq, PubMed]; This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified 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": 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": "Q5JVQ1;Q9UKB2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9UKB3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BTE3-1", "uniprot_id": "MCMBP_HUMAN", "mass": 72980.0, "length": 642, "protein_name": "Mini-chromosome maintenance complex-binding protein", "gene_name": "MCMBP", "organism": "Human", "refseq_name": "mini-chromosome maintenance complex-binding protein isoform 2", "refseq_ac": "NP_001243307", "gene_names_uniprotkb": "MCMBP; C10orf119", "gene_names_refseq": "C10orf119; MCM-BP; MCMBP", "protein_names_uniprotkb": "Mini-chromosome maintenance complex-binding protein; MCM-BP; MCM-binding protein", "protein_names_refseq": "MCM-binding protein; mini-chromosome maintenance complex-binding protein isoform 2; mini-chromosome maintenance complex-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:79892)", "pathway_count": 1, "publication_count": 107, "publication_id_list": "16385451;16964243;17296731;17322306;18669648;18767875;19413330;19415658;19608861;19651622;19664994;19664995;20068231;20090939;20679368;21196493;21406692;23186163;23301498;23481700;24275569;24714562;24715725;25418920;25576301;25645385;25892735;26154972;26375851;26728094;26992070;27397612;27846572;27862975;27893789;27920218;28218747;28228285;28254787;28510447;28514659;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632711;29786170;29789417;30315122;30410026;30429286;30484775;30620550;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34211107;34357683;34509645;34561969;34725712;34932366;35051231;35438632;35580925;36010968;36215666;36241641;36284347;37217939;37938771;40914422", "class_list": "", "function": "Associated component of the MCM complex that acts as a regulator of DNA replication. Binds to the MCM complex during late S phase and promotes the disassembly of the MCM complex from chromatin, thereby acting as a key regulator of pre-replication complex (pre-RC) unloading from replicated DNA. Can dissociate the MCM complex without addition of ATP; probably acts by destabilizing interactions of each individual subunits of the MCM complex. Required for sister chromatid cohesion., [UniProtKB, PubMed, PubMed]; Knockdown of the human ETG1 results in defective chromatid cohesion. Publication Status: Online-Only, [RefSeq, PubMed]; MCM-BP is conserved in multicellular eukaryotes and shares limited homology with MCM proteins. MCM-BP formed a complex with MCM3 to MCM7, which excluded MCM2., [RefSeq, PubMed]; MCM-BP silencing in human cells also delays MCM dissociation in late S phase, [RefSeq, PubMed]; MCMBP promotes the assembly of the MCM2-7 hetero-hexamer to ensure robust DNA replication in human cells. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a protein which is a component of the hexameric minichromosome maintenance (MCM) complex which regulates initiation and elongation of DNA. Multiple transcript variants encoding different isoforms have been found for this gene. [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": 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": 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": "B3KSP7;Q6IA56;Q9BVT9;Q9H916", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0051301 cell division;GO:0007062 sister chromatid cohesion;GO:0006261 DNA-templated DNA replication", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q9BTE3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96SN8-1", "uniprot_id": "CK5P2_HUMAN", "mass": 215038.0, "length": 1893, "protein_name": "CDK5 regulatory subunit-associated protein 2", "gene_name": "CDK5RAP2", "organism": "Human", "refseq_name": "CDK5 regulatory subunit-associated protein 2 isoform b", "refseq_ac": "NP_001011649", "gene_names_uniprotkb": "CDK5RAP2; CEP215; KIAA1633", "gene_names_refseq": "C48; CDK5RAP2; Cep215; MCPH3", "protein_names_uniprotkb": "CDK5 regulatory subunit-associated protein 2; CDK5 activator-binding protein C48; Centrosome-associated protein 215", "protein_names_refseq": "CDK5 activator-binding protein C48; CDK5 regulatory subunit-associated protein 2 isoform b; centrosomal protein 215 kDa; centrosomin", "tax_id": 9606, "disease": "Seckel syndrome (Disease Ontology:DOID:0050569); primary autosomal recessive microcephaly 3 (Disease Ontology:DOID:0070286); microcephaly (Disease Ontology:DOID:10907)", "pathway": " (hsa:55755); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 166, "publication_id_list": "10721722;11076968;11237011;11956313;12207013;12221128;12364337;12852856;13678582;14580337;14654843;15498487;15705883;15793586;16357211;16462731;16565220;16890155;17081983;17574030;17646400;17719545;17924679;17959831;18037885;18042621;18378770;18452278;18477460;18521620;18566290;18615013;18669648;18694559;18801063;19004860;19007248;19081074;19282672;19543530;19553473;19651622;19690332;19691289;19940019;20068231;20230748;20308558;20399632;20466722;20558667;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;22094468;22179047;22365832;22424782;22433857;22641346;22653444;22898188;23141531;23141541;23186163;23253480;23301498;23348840;23400999;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24366607;24469809;24714562;24982133;25047611;25313408;25503564;25532896;25657325;25880248;26154972;26192437;26482847;26485573;26992070;27600516;27846572;27893789;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29162697;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30429286;30484775;30524438;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33402344;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34561969;34932366;35051231;35318648;35561310;35580925;35849559;36010968;36215666;36241641;36774351;37938771;38008501;39048555;39321808;39321809;40396914;7769006;7790358;8838651", "class_list": "", "function": "A novel missense variant in CDK5RAP2 associated with non-obstructive azoospermia., [RefSeq, PubMed]; CDK5RAP2 is a Wnt target gene and promotes stemness and progression of oral squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; MORC2 regulates RBM39-mediated CDK5RAP2 alternative splicing to promote EMT and metastasis in colon cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations in CDK5RAP2 gene is associated with autosomal recessive primary microcephaly Erratum:[Nat Genet. 2005 May;37(5):555. Lizarraga, Sophia [corrected to Lizarraga, Sofia B]], [RefSeq, PubMed]; Potential regulator of CDK5 activity via its interaction with CDK5R1 (PubMed:15164053). Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a transcriptional regulator of both BUBR1 and MAD2 promoter (PubMed:19282672). Together with EB1/MAPRE1, may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends (PubMed:18042621, PubMed:17959831, PubMed:19553473). Regulates centrosomal maturation by recruitment of the gamma-tubulin ring complex (gTuRC) onto centrosomes (PubMed:18042621, PubMed:17959831, PubMed:26485573, PubMed:39321809). In complex with PDE4DIP isoform 13/MMG8/SMYLE, MAPRE1 and AKAP9, contributes to microtubules nucleation and extension from the centrosome to the cell periphery (PubMed:29162697). Required for the recruitment of AKAP9 to centrosomes (PubMed:29162697). Plays a role in neurogenesis (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 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": 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": 22, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5JV18;Q7Z3L4;Q7Z3U1;Q7Z7I6;Q9BSW0;Q9H6J6;Q9HCD9;Q9NV90;Q9UIW9", "ec_number_list": "", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0008017 microtubule binding;GO:0019901 protein kinase binding;GO:0044877 protein-containing complex binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0007059 chromosome segregation;GO:0045665 negative regulation of neuron differentiation;GO:0007420 brain development;GO:0045664 regulation of neuron differentiation;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 16.9, "record_id": "Q96SN8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92945-1", "uniprot_id": "FUBP2_HUMAN", "mass": 73115.0, "length": 711, "protein_name": "Far upstream element-binding protein 2", "gene_name": "KHSRP", "organism": "Human", "refseq_name": "far upstream element-binding protein 2 isoform 1", "refseq_ac": "NP_003676", "gene_names_uniprotkb": "KHSRP; FUBP2", "gene_names_refseq": "FBP2; FUBP2; KHSRP; KSRP; p75", "protein_names_uniprotkb": "Far upstream element-binding protein 2; FUSE-binding protein 2; KH type-splicing regulatory protein; KSRP; p75", "protein_names_refseq": "FUSE-binding protein 2; epididymis secretory sperm binding protein; far upstream element-binding protein 2 isoform 1; far upstream element-binding protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:8570); (R-HSA-380994); (R-HSA-450604)", "pathway_count": 3, "publication_count": 147, "publication_id_list": "10087204;10958673;11003644;11237011;11719186;14742429;15175153;15385533;15514971;16364914;16408927;16648466;16687408;16912112;16931790;16964243;16989641;17081983;17177604;17287340;17322306;17437720;17525332;18285520;18452278;18669648;18684992;18691976;18767875;18840095;19141871;19198587;19369195;19413330;19415658;19651622;19664995;19690332;19854161;20022965;20058876;20068231;20361218;21329876;21406692;21740066;21933836;22121020;22223895;22802018;22819556;22978410;23186163;23269699;23301498;24129315;24715725;25114211;25352548;25418920;25880248;2663993;2664463;26758079;26929215;27655845;28228285;28510447;28514659;28649982;28657654;28832583;28855257;28904123;29242379;29331515;29351928;29393594;29413899;29493099;29557506;29605689;29632046;29789417;30059200;30315122;30397120;30429286;30444036;30620550;31154438;31217245;31222486;31373491;31492838;31511826;31637018;31775888;31844290;31848261;32119511;32157095;32387766;32488085;32574038;3260265;32673063;32870666;32938616;32938750;32983136;33214551;33592498;33691108;33912179;33968037;33981976;34019948;34171305;34846842;34932366;35051231;35083852;35132862;35138101;35240233;35254053;35289036;35318648;35580925;35705054;36010968;36241641;37074911;37217939;37541260;37564198;37580757;37938771;38665916;39531497;39534244;40307207;40596516;40914422;8940189;9136930", "class_list": "", "function": "Binds to the dendritic targeting element and may play a role in mRNA trafficking (By similarity). Part of a ternary complex that binds to the downstream control sequence (DCS) of the pre-mRNA. Mediates exon inclusion in transcripts that are subject to tissue-specific alternative splicing. May interact with single-stranded DNA from the far-upstream element (FUSE). May activate gene expression. Also involved in degradation of inherently unstable mRNAs that contain AU-rich elements (AREs) in their 3'-UTR, possibly by recruiting degradation machinery to ARE-containing mRNAs., [UniProtKB, PubMed, PubMed, PubMed]; Identification of KHSRP-Regulated RNAs in Esophageal Cancer by Integrated Bioinformatics Analysis., [RefSeq, PubMed]; In NSCLC cell lines, overexpression of HNRNPC significantly promoted lung cancer cell proliferation, migration, and invasion in vitro and in vivo. KHSRP and HNRNPC may induce human lung cancer cell invasion and metastasis by activating the IFN-alpha-JAK-STAT1 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Intergenic CircRNA Circ_0007379 Inhibits Colorectal Cancer Progression by Modulating miR-320a Biogenesis in a KSRP-Dependent Manner. Publication Status: Online-Only, [RefSeq, PubMed]; The KHSRP gene encodes a multifunctional RNA-binding protein implicated in a variety of cellular processes, including transcription, alternative pre-mRNA splicing, and mRNA localization (Min et al., 1997 [PubMed 9136930]; Gherzi et al., 2004 [PubMed 15175153]).[supplied by OMIM, Apr 2010]., [RefSeq]; The RNA-binding protein KSRP aggravates malignant progression of clear cell renal cell carcinoma through transcriptional inhibition and post-transcriptional destabilization of the NEDD4L ubiquitin ligase. Publication Status: Online-Only, [RefSeq, PubMed]; This is the first report demonstrating that KSRP is involved in the regulation of T cell responses. We present strong evidence that T cells derived from KSRP(-/-) mice favor Th2-driven immune responses. 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": 24, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "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": "O00301;Q59EZ9;Q5U4P6;Q9UNT5;Q9UQH5", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003730 mRNA 3'-UTR binding;GO:0044183 protein folding chaperone;GO:0035925 mRNA 3'-UTR AU-rich region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0000375 RNA splicing, via transesterification reactions;GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing;GO:0006355 regulation of DNA-templated transcription;GO:0043488 regulation of mRNA stability", "synthesized_glycan_count": 0, "hit_score": 16.1, "record_id": "Q92945-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P32970-1", "uniprot_id": "CD70_HUMAN", "mass": 21118.0, "length": 193, "protein_name": "CD70 antigen", "gene_name": "CD70", "organism": "Human", "refseq_name": "CD70 antigen isoform 1", "refseq_ac": "NP_001243", "gene_names_uniprotkb": "CD70; CD27LG; CD27L; TNFSF7", "gene_names_refseq": "CD27-L; CD27LG; CD27L; CD70; LPFS3; TNFSF7; TNLG8A", "protein_names_uniprotkb": "CD70 antigen; CD27 ligand; CD27-L; Tumor necrosis factor ligand superfamily member 7", "protein_names_refseq": "CD27 ligand; CD70 antigen isoform 1; CD70 antigen; Ki-24 antigen; surface antigen CD70; tumor necrosis factor ligand 8A; tumor necrosis factor ligand superfamily member 7", "tax_id": 9606, "disease": "lymphoproliferative syndrome (Disease Ontology:DOID:0060704); severe combined immunodeficiency due to CD70 deficiency (MONDO:MONDO:0034054)", "pathway": " (hsa:970); (R-HSA-5669034)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10074428;10359578;10398604;10484778;10597252;10615125;11237011;11571266;11882293;11911831;11920585;12189164;12949498;14656435;15356117;15470070;16501042;1655907;17632511;18571443;18606301;20032458;20222921;20307208;20510730;20979233;21300286;22197273;22424782;22664871;22801960;23481700;23584533;24070496;24190977;24714562;24715725;25418920;25502872;25576301;25813380;26154972;26375851;26728094;26811146;26929215;27846572;28011863;28011864;28218747;28228285;28832583;28855257;28904123;29242379;29393594;29508533;29557506;29632046;29632711;30315122;30410026;30484775;30626607;31844290;31937595;31998317;32265295;32350084;32357974;32502341;32897882;33141586;33214551;33298915;33936100;33968037;34211107;34357683;34419446;34433824;34932366;35051231;36241641;37074911;37824079;38030302;38064919;38279834;7913952;8120384;8387892;8871664;9878548", "class_list": "", "function": "Associations between CD70 methylation of T cell DNA and age in adults with systemic lupus erythematosus and population controls: The Michigan Lupus Epidemiology & Surveillance (MILES) Program., [RefSeq, PubMed]; CD70-induced differentiation of proinflammatory Th1/17/22/GM lymphocytes associated with disease progression and immune reconstitution during HIV infection., [RefSeq, PubMed]; Delayed vaccine-induced CD8[+] T cell expansion by topoisomerase I inhibition mediates enhanced CD70-dependent tumor eradication. Publication Status: Online-Only, [RefSeq, PubMed]; Expressed at the plasma membrane of B cells, it is the ligand of the CD27 receptor which is specifically expressed at the surface of T cells (PubMed:28011863, PubMed:28011864, PubMed:8387892). The CD70-CD27 signaling pathway mediates antigen-specific T cell activation and expansion which in turn provides immune surveillance of B cells (PubMed:28011863, PubMed:28011864)., [UniProtKB, PubMed, PubMed, PubMed]; Soluble CD27 as a predictive biomarker for intra-tumoral CD70/CD27 interaction in nasopharyngeal carcinoma., [RefSeq, PubMed]; The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF27/CD27. It is a surface antigen on activated, but not on resting, T and B lymphocytes. It induces proliferation of costimulated T cells, enhances the generation of cytolytic T cells, and contributes to T cell activation. This cytokine is also reported to play a role in regulating B-cell activation, cytotoxic function of natural killer cells, and immunoglobulin sythesis. [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": 1, "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": 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": 2, "reported_phosphosites": 0, "reported_mutagensis": 28, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 16, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DPR8;Q53XX4;Q96J57", "ec_number_list": "", "go_molecular_function": "GO:0048018 receptor ligand activity;GO:0005164 tumor necrosis factor receptor binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0042110 T cell activation;GO:0097191 extrinsic apoptotic signaling pathway;GO:0042102 positive regulation of T cell proliferation;GO:0033209 tumor necrosis factor-mediated signaling pathway;GO:0042100 B cell proliferation", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "P32970-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H7D0-1", "uniprot_id": "DOCK5_HUMAN", "mass": 215309.0, "length": 1870, "protein_name": "Dedicator of cytokinesis protein 5", "gene_name": "DOCK5", "organism": "Human", "refseq_name": "dedicator of cytokinesis protein 5 isoform 1", "refseq_ac": "NP_079216", "gene_names_uniprotkb": "DOCK5", "gene_names_refseq": "DOCK5", "protein_names_uniprotkb": "Dedicator of cytokinesis protein 5", "protein_names_refseq": "dedicator of cytokinesis protein 5 isoform 1; dedicator of cytokinesis protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:80005); (R-HSA-9013149); (R-HSA-9013408); (R-HSA-983231)", "pathway_count": 4, "publication_count": 324, "publication_id_list": "10.1101/2023.09.13.557529;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10652265;10699171;10699464;10873802;10958683;11007481;11042108;11058585;11062261;11085924;11149925;11237011;11242053;11373293;11396949;11431473;11432776;11584276;11672528;11689693;11704860;11707441;11744692;11751636;11756552;11773441;11803464;11804587;11804589;11804590;11864571;11884391;11895428;11912491;11950885;11961559;11967128;12032298;12071859;12093360;12096337;12134158;12177196;12195014;12221096;12351724;12376551;12427746;12432077;12531887;12546821;12547822;12650940;12665586;12857875;12877655;12923183;14512443;14514689;1464587;14675773;14718541;15020713;15023524;15033976;15064355;15107133;15133129;15147912;15247287;15302923;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15710388;15728722;15850391;15858067;15897194;16002401;16054028;16112081;16116428;16184169;16243036;1630448;16339170;16473593;16492808;16507994;16519628;16636067;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16964243;16968698;17027967;17077126;17145773;17196961;17214551;17244649;17583407;17599059;17702745;17765681;17804252;17976533;18006505;18045877;18212344;18218625;18249095;18347018;18396277;18426980;18653540;18669648;18691976;18838382;19004829;19269969;19293402;19494238;19581409;19605563;19608861;19651622;19673492;19690332;19713215;19934221;20068231;20400958;20460433;20530532;20627800;20679435;20810653;21148482;21542010;21565175;21613211;21621533;21730051;21865595;218813;21989057;22004470;22096251;22298643;22407364;22475431;22595969;22608513;22734669;22970203;23186163;23209303;23255595;23288169;23434736;23572525;23707487;23718289;23940355;24086303;24259668;24335996;24352656;24659802;24859002;24933155;24960694;25024229;25211221;25428919;25576301;25645385;25704760;25721503;25795300;25862245;26129894;26529257;26845023;26887924;26992070;27117132;27145964;27216196;27481945;27555588;27566826;27600516;27713499;27806292;27846572;27862975;27920218;28114311;28196833;28218747;28228285;28514659;28649982;28657654;28834231;28904123;29089502;29358323;29382922;29393594;29437277;29557506;29786170;30001391;30192525;30315122;30429286;30484775;30620550;30853411;31217245;31844290;31871319;32157095;32203420;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33537174;33912179;33968037;33981976;34087483;3409321;34171305;34185709;34216686;34405274;34509645;35051231;35289036;35580925;36215666;36241641;36284347;37434235;37938771;38161229;38857861;40307207;40596516;7476457;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8662638;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8816476;8939998;8990121;8994827;9013646;9065479;9099726;9113980;9230307;9305890;9326583;9331217;9422515;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9822598;9822605;9843499;9927674;9988689", "class_list": "", "function": "Along with DOCK1, DOCK5 is an important mediator of CrkII/CrkL regulation of Caco-2 spreading and migration on collagen IV., [RefSeq, PubMed]; Dock5 Deficiency Promotes Proteinuric Kidney Diseases via Modulating Podocyte Lipid Metabolism., [RefSeq, PubMed]; Guanine nucleotide exchange factor (GEF) for Rho and Rac (PubMed:38857861). GEF proteins activate small GTPases by exchanging bound GDP for free GTP (By similarity). Together with ELMO1, activates RAC1; the activity is stimulated by RHOG (PubMed:38857861). Along with DOCK1, mediates CRK/CRKL regulation of epithelial and endothelial cell spreading and migration on type IV collagen (PubMed:19004829)., [UniProtKB, UniProtKB, PubMed, PubMed]; PHF5A regulates the expression of the DOCK5 variant to promote HNSCC progression through p38 MAPK activation. Publication Status: Online-Only, [RefSeq, PubMed]; The potential role of DOCK5 in human obesity, [RefSeq, PubMed]; This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family act as guanine nucleotide exchange factors for small Rho family G proteins. The protein encoded by this gene is thought to associate with adaptors CRK and CRKL, and function in regulation of intestinal epithelial cell spreading and migration on collagen IV. Similar proteins in mouse and zebrafish also function in myoblast fusion. [provided by RefSeq, Oct 2016]., [RefSeq]; ZEB1 represses biogenesis of circ-DOCK5 to facilitate metastasis in esophageal squamous cell carcinoma via a positive feedback loop with TGF-beta., [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": 24, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 59, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RNY0;Q5XKD5;Q6AI11;Q6PJS6;Q6ZTS6", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0002102 podosome", "go_biological_process": "GO:0016477 cell migration;GO:0016601 Rac protein signal transduction;GO:1900026 positive regulation of substrate adhesion-dependent cell spreading;GO:0007520 myoblast fusion;GO:1904754 positive regulation of vascular associated smooth muscle cell migration", "synthesized_glycan_count": 0, "hit_score": 33.3, "record_id": "Q9H7D0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9C0C9-1", "uniprot_id": "UBE2O_HUMAN", "mass": 141293.0, "length": 1292, "protein_name": "(E3-independent) E2 ubiquitin-conjugating enzyme", "gene_name": "UBE2O", "organism": "Human", "refseq_name": "(E3-independent) E2 ubiquitin-conjugating enzyme", "refseq_ac": "NP_071349", "gene_names_uniprotkb": "UBE2O; KIAA1734", "gene_names_refseq": "E2-230K; UBE2O", "protein_names_uniprotkb": "(E3-independent) E2 ubiquitin-conjugating enzyme; 2.3.2.24; E2/E3 hybrid ubiquitin-protein ligase UBE2O; Ubiquitin carrier protein O; Ubiquitin-conjugating enzyme E2 O; Ubiquitin-conjugating enzyme E2 of 230 kDa; Ubiquitin-conjugating enzyme E2-230K; Ubiquitin-protein ligase O", "protein_names_refseq": "(E3-independent) E2 ubiquitin-conjugating enzyme; E2/E3 hybrid ubiquitin-protein ligase UBE2O; ubiquitin carrier protein O; ubiquitin conjugating enzyme E2O; ubiquitin-conjugating enzyme E2 of 230 kDa; ubiquitin-conjugating enzyme E2-230K; ubiquitin-protein ligase O", "tax_id": 9606, "disease": "", "pathway": " (hsa:63893); (R-HSA-983168)", "pathway_count": 2, "publication_count": 118, "publication_id_list": "11062501;11237011;11311559;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;17287340;18220336;18662542;18669648;19028597;19352404;19413330;19452197;19489725;19651622;19664994;19664995;19690332;19851334;19874575;19940261;20068231;20237496;21406692;2261476;22645359;23186163;23301498;23381138;23452853;23455153;23481700;24275569;24703950;24714562;24715725;25576301;25880248;26154972;26375851;26992070;27543614;27600516;27846572;27920218;28218747;28228285;28510447;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30484775;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34229054;34357683;34509645;34921745;34932366;35051231;35154160;35251023;35318648;35580925;35915257;36010968;36215666;36241641;36269535;36284347;37182872;37340703;40914422;40983751;9380723;9668046", "class_list": "", "function": "Age-Associated UBE2O Reduction Promotes Neuronal Death in Alzheimer's Disease., [RefSeq, PubMed]; E2/E3 hybrid ubiquitin-protein ligase that displays both E2 and E3 ligase activities and mediates monoubiquitination of target proteins. Negatively regulates TRAF6-mediated NF-kappa-B activation independently of its E2 activity. Acts as a positive regulator of BMP7 signaling by mediating monoubiquitination of SMAD6, thereby regulating adipogenesis. Mediates monoubiquitination at different sites of the nuclear localization signal (NLS) of BAP1, leading to cytoplasmic retention of BAP1. Also able to monoubiquitinate the NLS of other chromatin-associated proteins, such as INO80 and CXXC1, affecting their subcellular location. Acts as a regulator of retrograde transport by assisting the TRIM27:MAGEL2 E3 ubiquitin ligase complex to mediate 'Lys-63'-linked ubiquitination of WASHC1, leading to promote endosomal F-actin assembly., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; High Level of Ubiquitin Conjugate Enzyme E2O Indicates Poor Prognosis of Patients with Hepatocellular Carcinoma., [RefSeq, PubMed]; Mechanism of client selection by the protein quality-control factor UBE2O., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; UBE2O and USP7 co-regulate RECQL4 ubiquitinylation and homologous recombination-mediated DNA repair., [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": 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": 23, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 35, "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": "A6NDU5;Q69YP4;Q6PIZ2;Q86UA4;Q8N425;Q8TBN1;Q9BSW1;Q9H6E6;Q9H7E4;Q9H9B2", "ec_number_list": "6.2.1.45;2.3.2.24;2.3.2.23;2.3.2.26;2.3.2.27;2.3.2.31;2.3.2.-;6.2.1.-;2.3.2.34;2.3.2.32;3.6.4.-;6.2.1.64;2.3.2.25;2.3.2.36;2.7.11.1", "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0061630 ubiquitin protein ligase activity;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:0005829 cytosol;GO:0016604 nuclear body", "go_biological_process": "GO:0030513 positive regulation of BMP signaling pathway;GO:0042147 retrograde transport, endosome to Golgi;GO:0070534 protein K63-linked ubiquitination;GO:0006513 protein monoubiquitination", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "Q9C0C9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6P656-1", "uniprot_id": "CF161_HUMAN", "mass": 34294.0, "length": 301, "protein_name": "Cilia- and flagella-associated protein 161", "gene_name": "CFAP161", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 161 isoform 1", "refseq_ac": "NP_775799", "gene_names_uniprotkb": "CFAP161; C15orf26", "gene_names_refseq": "C15orf26; CFAP161", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 161", "protein_names_refseq": "cilia- and flagella-associated protein 161 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:161502)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q8N906", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0031514 motile cilium;GO:0036126 sperm flagellum;GO:0005879 axonemal microtubule;GO:0160111 axonemal A tubule inner sheath", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6P656-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TDJ6-1", "uniprot_id": "DMXL2_HUMAN", "mass": 339641.0, "length": 3036, "protein_name": "DmX-like protein 2", "gene_name": "DMXL2", "organism": "Human", "refseq_name": "dmX-like protein 2 isoform 1", "refseq_ac": "NP_001167587", "gene_names_uniprotkb": "DMXL2; KIAA0856", "gene_names_refseq": "DEE81; DFNA71; DMXL2; EIEE81; PEPNS; RC3", "protein_names_uniprotkb": "DmX-like protein 2; Rabconnectin-3", "protein_names_refseq": "dmX-like protein 2 isoform 1; dmX-like protein 2; rabconnectin-3", "tax_id": 9606, "disease": "autosomal recessive limb-girdle muscular dystrophy type 27 (Disease Ontology:DOID:0061133); autosomal dominant nonsyndromic deafness 71 (Disease Ontology:DOID:0080267); developmental and epileptic encephalopathy 81 (Disease Ontology:DOID:0112217); dilated cardiomyopathy (Disease Ontology:DOID:12930); polyendocrine-polyneuropathy syndrome (MONDO:MONDO:0014497)", "pathway": " (hsa:23312)", "pathway_count": 1, "publication_count": 94, "publication_id_list": "11237011;11809763;15144186;18669648;18691976;19023099;19690332;20058876;20068231;20810660;23186163;23481700;24366607;24715725;25248098;25576301;25880248;25892735;26154972;26375851;26811146;26992070;27397612;27600516;27657680;27846572;27862975;27920218;28218747;28228285;28411811;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29769354;29786170;30237576;30315122;30379171;30410026;30429286;30732576;30779550;30833945;31092671;31154438;31217245;31530632;31688942;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33715530;33717175;33912179;33968037;33981976;34087483;34171305;34185709;34509645;34561969;34932366;35051231;35494241;35580925;36010968;36215666;36241641;36284347;37938771;38253038", "class_list": "", "function": "A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family. Erratum:[Exp Biol Med (Maywood). 2021 Nov;246(21):NP5. doi: 10.1177/15353702211040362. PMID: 34749523], [RefSeq, PubMed]; An important role for Rabconnectin-3 and V-ATPase activity in the Notch signaling pathway in mammalian cells., [RefSeq, PubMed]; Disruption of DMXL2 may predispose to NDDs including autism spectrum disorder. Publication Status: Online-Only, [RefSeq, PubMed]; Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in humans and mice. Publication Status: Online-Only, [RefSeq, PubMed]; Impaired lysosomal function and autophagy caused by biallelic DMXL2 mutations affect neuronal development and synapse formation and result in Ohtahara syndrome with profound developmental impairment and reduced life expectancy. Erratum:[Brain. 2020 Feb 1;143(2):e16. doi: 10.1093/brain/awz397. PMID: 31840736], [RefSeq, PubMed]; May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles (PubMed:11809763). Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity)., [UniProtKB, UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found 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": 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": 22, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 72, "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": "B2RTR3;B7ZMH3;F5GWF1;O94938", "ec_number_list": "", "go_molecular_function": "GO:0031267 small GTPase binding", "go_cellular_component": "GO:0043291 RAVE complex;GO:0098992 neuronal dense core vesicle;GO:0005615 extracellular space;GO:0030672 synaptic vesicle membrane;GO:0008021 synaptic vesicle", "go_biological_process": "GO:0007035 vacuolar acidification", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q8TDJ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P06132-1", "uniprot_id": "DCUP_HUMAN", "mass": 40787.0, "length": 367, "protein_name": "Uroporphyrinogen decarboxylase", "gene_name": "UROD", "organism": "Human", "refseq_name": "uroporphyrinogen decarboxylase", "refseq_ac": "NP_000365", "gene_names_uniprotkb": "UROD", "gene_names_refseq": "PCT; UPD; UROD", "protein_names_uniprotkb": "Uroporphyrinogen decarboxylase; 4.1.1.37; UPD; URO-D", "protein_names_refseq": "uroporphyrinogen III decarboxylase; uroporphyrinogen decarboxylase", "tax_id": 9606, "disease": "porphyria (Disease Ontology:DOID:13268); breast cancer (Disease Ontology:DOID:1612); porphyria cutanea tarda (Disease Ontology:DOID:3132); hepatoerythropoietic porphyria (Disease Ontology:DOID:5230)", "pathway": " (hsa:7389); (R-HSA-189451)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "10338097;10477430;10706561;11032836;11032841;11069625;11175906;11237011;11295834;11719352;12071824;12474143;12773194;14633982;15235026;15491440;15863660;16121195;16176984;16258391;1634232;17240319;18004775;1905636;1939222;20705604;21668429;22223895;2243121;22869377;23467411;23481700;24714562;24715725;25880248;26154972;26992070;27846572;27862975;27920218;28218747;28228285;28446606;28467828;28510447;28514659;28832583;28904123;2920211;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29786170;3015909;30315122;30429286;30833945;31092671;31154438;31844290;31848261;32157095;32161166;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33043033;33141586;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34211107;34357683;35008409;35051231;35251023;35318648;35580925;36284347;3658695;3775362;37938771;3805019;38665916;666752;6822570;7354069;7592565;7706766;8078902;8159699;8176248;8644733;8771201;8896428;9177788;9194196;9564029;9792863;9878253", "class_list": "", "function": "Catalyzes the sequential decarboxylation of the four acetate side chains of uroporphyrinogen to form coproporphyrinogen and participates in the fifth step in the heme biosynthetic pathway (PubMed:11069625, PubMed:11719352, PubMed:14633982, PubMed:18004775, PubMed:21668429). Isomer I or isomer III of uroporphyrinogen may serve as substrate, but only coproporphyrinogen III can ultimately be converted to heme (PubMed:11069625, PubMed:11719352, PubMed:14633982, PubMed:21668429). In vitro also decarboxylates pentacarboxylate porphyrinogen I (PubMed:12071824)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 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": 4, "reported_glycation": 0, "reported_snv": 2, "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": "A8K762;Q16863;Q16883;Q53YB8;Q53ZP6;Q6IB28;Q9BUZ0", "ec_number_list": "4.1.1.37", "go_molecular_function": "GO:0004853 uroporphyrinogen decarboxylase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006783 heme biosynthetic process;GO:0006782 protoporphyrinogen IX biosynthetic process;GO:0006784 heme A biosynthetic process;GO:0006778 porphyrin-containing compound metabolic process;GO:0006787 porphyrin-containing compound catabolic process", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "P06132-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UHA3-1", "uniprot_id": "RLP24_HUMAN", "mass": 19621.0, "length": 163, "protein_name": "Probable ribosome biogenesis protein RLP24", "gene_name": "RSL24D1", "organism": "Human", "refseq_name": "probable ribosome biogenesis protein RLP24", "refseq_ac": "NP_057388", "gene_names_uniprotkb": "RSL24D1; C15orf15; My024; RPL24L", "gene_names_refseq": "C15orf15; HRP-L30-iso; L30; RLP24; RPL24L; RPL24; RSL24D1; TVAS3", "protein_names_uniprotkb": "Probable ribosome biogenesis protein RLP24; Ribosomal L24 domain-containing protein 1; Ribosomal protein L24-like", "protein_names_refseq": "60S ribosomal protein L30 isolog; homolog of yeast ribosomal like protein 24; my024 protein; probable ribosome biogenesis protein RLP24; ribosomal L24 domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51187)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11237011;12429849;20112406;20237496;23481700;24715725;25418920;25469497;25548167;25576301;26154972;26375851;26992070;27846572;27920218;28063628;28228285;28446606;28832583;28904123;29242379;29393594;29493099;29508533;29632046;29786170;30315122;30429286;31154438;31844290;31848261;31998317;32157095;32161166;32265295;32387766;32502341;32669547;32938616;32983136;33141586;33298915;33592498;33936100;33968037;34019948;34171305;34211107;34357683;34561969;35051231;35083852;35354024;36690642", "class_list": "", "function": "Involved in the biogenesis of the 60S ribosomal subunit. Ensures the docking of GTPBP4/NOG1 to pre-60S particles (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RSL24D1 sustains steady-state ribosome biogenesis and pluripotency translational programs in embryonic stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein sharing a low level of sequence similarity with human ribosomal protein L24. Although this gene has been referred to as RPL24, L30, and 60S ribosomal protein L30 isolog in the sequence databases, it is distinct from the human genes officially named RPL24 (which itself has been referred to as ribosomal protein L30) and RPL30. The protein encoded by this gene localizes to the nucleolus and is thought to play a role in the biogenesis of the 60S ribosomal subunit. The precise function of this gene is currently unknown. This gene utilizes alternative polyadenylation signals and has multiple pseudogenes. [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": 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": "B2RD72;Q561V8;Q8N6S8;Q96B04;Q96C76;Q96HJ1", "ec_number_list": "", "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005634 nucleus", "go_biological_process": "GO:0042273 ribosomal large subunit biogenesis;GO:0042254 ribosome biogenesis", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q9UHA3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BUL8-1", "uniprot_id": "PDC10_HUMAN", "mass": 24702.0, "length": 212, "protein_name": "Programmed cell death protein 10", "gene_name": "PDCD10", "organism": "Human", "refseq_name": "programmed cell death protein 10", "refseq_ac": "NP_009148", "gene_names_uniprotkb": "PDCD10; CCM3; TFAR15", "gene_names_refseq": "CCM3; PDCD10; TFAR15", "protein_names_uniprotkb": "Programmed cell death protein 10; Cerebral cavernous malformations 3 protein; TF-1 cell apoptosis-related protein 15", "protein_names_refseq": "TF-1 cell apoptosis-related protein 15; apoptosis-related protein 15; cerebral cavernous malformations 3 protein; programmed cell death protein 10", "tax_id": 9606, "disease": "cerebral cavernous malformation (Disease Ontology:DOID:0060669); cerebral cavernous malformation 3 (Disease Ontology:DOID:0060671); varicocele (Disease Ontology:DOID:12337); hepatitis (Disease Ontology:DOID:2237); endometrial adenocarcinoma (Disease Ontology:DOID:2870); liver cirrhosis (Disease Ontology:DOID:5082); liver carcinoma (Disease Ontology:DOID:686)", "pathway": " (hsa:11235)", "pathway_count": 1, "publication_count": 73, "publication_id_list": "11237011;15543491;16239636;16284570;17360971;18782753;19370760;19608861;20332113;20489202;24366607;24714562;24715725;25576301;26758079;26992070;27600516;27807006;27846572;27862975;27920218;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29786170;30315122;30410026;30429286;30484775;30779550;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32350084;32387766;32488085;32897882;32938616;32983136;33592498;33633747;33691108;33912179;33936100;33968037;34087483;34357683;34509645;34561969;34932366;35051231;35154160;35561310;35580925;36010968;36215666;36284347;36723700;38158408;38320423;38517886;38657460", "class_list": "", "function": "Comprehensive CCM3 Mutational Analysis in Two Patients with Syndromic Cerebral Cavernous Malformation., [RefSeq, PubMed]; KRIT1, Malcavernin, and PDCD10 are differentially expressed in cerebral venous malformations and cerebral cavernous malformations, [RefSeq, PubMed]; Knockdown of CCM3 promotes angiogenesis through activation and nuclear translocation of YAP/TAZ., [RefSeq, PubMed]; Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3., [RefSeq, PubMed]; Programmed cell death 10 can be used as a potential biomarker for ankylosing spondylitis diagnosis and treatment., [RefSeq, PubMed]; Promotes cell proliferation. Modulates apoptotic pathways. Increases mitogen-activated protein kinase activity and STK26 activity (PubMed:27807006). Important for cell migration, and for normal structure and assembly of the Golgi complex (PubMed:27807006). Part of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation (PubMed:18782753). Important for KDR/VEGFR2 signaling. Increases the stability of KDR/VEGFR2 and prevents its breakdown. Required for normal cardiovascular development. Required for normal angiogenesis, vasculogenesis and hematopoiesis during embryonic development (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Study on the role of CCM3 gene and lead exposure induced neurotoxicity through neurovascular units., [RefSeq, PubMed]; This gene encodes an evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular signal-regulated kinase (ERK) pathway. It also interacts with and is phosphoryated by serine/threonine kinase 25, and is thought to function in a signaling pathway essential for vascular developent. Mutations in this gene are one cause of cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; We report herein the identification of PDCD10 (programmed cell death 10) as the CCM3 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": 2, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 1, "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": "A8K515;D3DNN5;O14811", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0090051 negative regulation of cell migration involved in sprouting angiogenesis;GO:1903588 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis;GO:0001525 angiogenesis;GO:0008284 positive regulation of cell population proliferation;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9BUL8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZG8-4", "uniprot_id": "DPH1_HUMAN", "mass": 48134.0, "length": 438, "protein_name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1", "gene_name": "DPH1", "organism": "Human", "refseq_name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 isoform 4", "refseq_ac": "NP_001333505", "gene_names_uniprotkb": "DPH1; DPH2L1; DPH2L; OVCA1", "gene_names_refseq": "DEDSSH; DPH1; DPH2L1; DPH2L; OVCA1", "protein_names_uniprotkb": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1; 2.5.1.108; Diphthamide biosynthesis protein 1; Diphtheria toxin resistance protein 1; Ovarian cancer-associated gene 1 protein; S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1", "protein_names_refseq": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 isoform 4; 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1; DPH-like 1; DPH1 homolog; DPH2-like 1; S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1; candidate tumor suppressor in ovarian cancer 1; diphthamide biosynthesis protein 1; diphthamide biosynthesis protein 2 homolog-like 1; diphtheria toxin resistance protein 1; diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces)-like 1; ovarian cancer-associated gene 1 protein; ovarian tumor suppressor candidate 1", "tax_id": 9606, "disease": "Miller-Dieker lissencephaly syndrome (Disease Ontology:DOID:0060469); diphthamide deficiency syndrome (Disease Ontology:DOID:0070476); diphthamide deficiency syndrome 1 (Disease Ontology:DOID:0070477)", "pathway": " (hsa:1801); (R-HSA-5358493)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10519411;11013075;1508200;15485916;18627462;20559380;21209280;23169644;23468660;23486472;23645155;23971743;24422557;24739148;25352115;25418920;25558065;25645385;26220823;27600516;29362492;29632046;30877278;33057331;3346227;33704902;34990869;37675463;37938771;8603384;8616839", "class_list": "", "function": "An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome)., [RefSeq, PubMed]; Catalyzes the first step of diphthamide biosynthesis, a post-translational modification of histidine which occurs in elongation factor 2 (PubMed:30877278). 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). Acts as a tumor suppressor (PubMed:10519411)., [UniProtKB, PubMed, UniProtKB, PubMed]; DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models., [RefSeq, PubMed]; DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. Erratum:[Eur J Hum Genet. 2020 Jan;28(1):138. doi: 10.1038/s41431-019-0394-5. PMID: 31477843], [RefSeq, PubMed]; Identification of the transcription factor Miz1 as an essential regulator of diphthamide biosynthesis using a CRISPR-mediated genome-wide screen. Publication Status: Online-Only, [RefSeq, PubMed]; The functional variant in promoter of OVCA1 was associated with the risk of gastric cancer in the northeast Chinese Han population., [RefSeq, PubMed]; The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [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": 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": "A0A6Q8JGF9;D3DTI3;Q16439;Q4VBA2;Q9BTW7;Q9UCY0", "ec_number_list": "3.6.5.-;2.5.1.108", "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_cellular_component": "GO:0005654 nucleoplasm;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": 3.2, "record_id": "Q9BZG8-4", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UQ10-1", "uniprot_id": "DHDH_HUMAN", "mass": 36382.0, "length": 334, "protein_name": "Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase", "gene_name": "DHDH", "organism": "Human", "refseq_name": "trans-1,2-dihydrobenzene-1,2-diol dehydrogenase", "refseq_ac": "NP_055290", "gene_names_uniprotkb": "DHDH; 2DD", "gene_names_refseq": "2DD; DHDH; HUM2DD", "protein_names_uniprotkb": "Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase; 1.1.1.-; 1.1.1.115; 1.1.1.119; 1.1.1.120; 1.1.1.179; 1.3.1.20; D-arabinose 1-dehydrogenase; D-galactose 1-dehydrogenase; D-glucose 1-dehydrogenase; D-ribose 1-dehydrogenase; D-xylose 1-dehydrogenase; D-xylose-NADP dehydrogenase; Dimeric dihydrodiol dehydrogenase; Hum2DD", "protein_names_refseq": "3-deoxyglucosone reductase; D-xylose 1-dehydrogenase; D-xylose-NADP dehydrogenase; dihydrodiol dehydrogenase (dimeric); trans-1,2-dihydrobenzene-1,2-diol dehydrogenase", "tax_id": 9606, "disease": "", "pathway": " (hsa:27294)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10477285;11097839;11237011;11306093;18600452;18676680;19625176;19692168;19773279;23303836;23481700;24734329;31154438;31998317;32502341;33968037;33981976;35051231;35580925", "class_list": "", "function": "Catalyzes the NADP(+)-linked oxidation of trans-dihydrodiols of aromatic hydrocarbons to the corresponding catechols. It also catalyzes the oxidation of several pentoses and hexoses. In the reverse reaction in the presence of NADPH, it acts as NADPH-linked reductase on a broad range of substrates including aldehydes, chetones, and alpha-dicarbonyl compounds such as 3-deoxyglucosone, camphorquinone and methylglyoxal., [UniProtKB, UniProtKB]; Comparison of other mammalian homologs with the human enzyme shows that dimeric DDs constitute a novel protein family., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed, PubMed]; Possible association of both variants of the DHDH gene with familial Dupuytren's disease, as over-representation of the rs2270941 and rs11666105 alterations was identified among 100 patients with a familial history. Erratum:[J Hand Surg Eur Vol. 2013 Nov;38(9):1016], [RefSeq, PubMed]; Site-directed mutagenesis of conserved residues shows that Tyr-180 plays a critical role in the catalytic function of this enzyme, while His-79 is required in the coenzyme binding and chemical steps of the reaction., [RefSeq, PubMed]; Some genetical studies show also altered expression of the dehydrogenases ALDH2 and DHDH genes in patients with Dupuytren's disease and with digestive tract malignancies related to alcohol abuse.(review) Review article, [RefSeq, PubMed]; Survival was significantly better in gastric cancer patients with low DDH expression., [RefSeq, PubMed]; This gene encodes an enzyme that belongs to the family of dihydrodiol dehydrogenases, which exist in multiple forms in mammalian tissues and are involved in the metabolism of xenobiotics and sugars. These enzymes catalyze the NADP1-linked oxidation of transdihydrodiols of aromatic hydrocarbons to corresponding catechols. This enzyme is a dimeric dihydrodiol dehydrogenase, and it differs from monomeric dihydrodiol dehydrogenases in its high substrate specificity for trans-dihydrodiols of aromatic hydrocarbons in the oxidative direction. [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": 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": "", "ec_number_list": "3.1.1.31;1.1.1.47;1.1.1.363;1.1.1.357;1.1.1.62;1.1.1.112;1.3.1.20;1.1.1.209;1.1.1.51;1.1.1.270;1.1.1.-;1.1.1.149;1.1.1.210;1.1.1.53;1.1.1.179;1.1.1.115;1.1.1.119;1.1.1.120", "go_molecular_function": "GO:0000166 nucleotide binding;GO:0047115 trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity;GO:0047837 D-xylose 1-dehydrogenase (NADP+) activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "", "go_biological_process": "GO:0042843 D-xylose catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9UQ10-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92841-4", "uniprot_id": "DDX17_HUMAN", "mass": 80272.0, "length": 729, "protein_name": "Probable ATP-dependent RNA helicase DDX17", "gene_name": "DDX17", "organism": "Human", "refseq_name": "probable ATP-dependent RNA helicase DDX17 isoform 1 precursor", "refseq_ac": "NP_006377", "gene_names_uniprotkb": "DDX17", "gene_names_refseq": "DDX17; P72; RH70", "protein_names_uniprotkb": "Probable ATP-dependent RNA helicase DDX17; 3.6.4.13; DEAD box protein 17; DEAD box protein p72; DEAD box protein p82; RNA-dependent helicase p72", "protein_names_refseq": "DEAD (Asp-Glu-Ala-Asp) box helicase 17; DEAD (Asp-Glu-Ala-Asp) box polypeptide 17; DEAD box protein p72; DEAD box protein p82; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD); RNA-dependent helicase p72; p72 RNA helicase; probable ATP-dependent RNA helicase DDX17 isoform 1 precursor; probable ATP-dependent RNA helicase DDX17", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); abdominal obesity-metabolic syndrome (Disease Ontology:DOID:0060611); developmental and epileptic encephalopathy 46 (Disease Ontology:DOID:0080456); alcohol use disorder (Disease Ontology:DOID:1574); cancer (Disease Ontology:DOID:162); epilepsy (Disease Ontology:DOID:1826); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:10521); (R-HSA-3899300)", "pathway_count": 2, "publication_count": 172, "publication_id_list": "11250900;11477070;11675387;11842083;12138182;12150977;12193588;12529333;12595555;12679040;12718889;15298701;15531877;15660129;15766567;15958389;15976810;16098147;16757475;16964243;17011493;17079232;17081983;17081986;17226766;17298944;17369852;17485482;17525332;17535915;17699760;17803295;17942393;18077418;18082607;18211901;18279852;18334637;18339323;18452278;18488044;18669648;19240082;19596686;19615980;19718048;19995069;20068231;20098713;20166139;20176810;20406972;20663877;20676127;21338522;21527249;21740066;21876179;22002106;22266867;22467880;22713328;22967762;23022728;23404503;23673342;23788676;24129315;24275493;24275569;24581491;24589731;24715725;24910439;25114211;25126784;25218447;25505266;25576301;25645385;25755297;25772364;25800734;25880248;26030138;26154972;26209609;26992070;27478153;27846572;28510447;28657654;28904123;29317506;29351928;29493099;29557506;30059200;30315122;30379171;30397120;30410026;30484775;30573663;30779550;30833945;31217245;31222486;31373491;31492838;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32522876;32870666;32897882;32938616;32938750;32983136;33091337;33123756;33141586;33214551;33392160;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34357683;34561969;34725712;34846842;35051231;35083852;35132862;35154160;35251023;35254053;35318648;35494241;35580925;36241641;36284347;36453994;36581221;36593242;37217939;37541260;37720188;37938771;38494770;38665916;38782119;39531497;40307207;40596516;8871553", "class_list": "", "function": "Alternate protein isoforms arise through the use of a non-AUG (CUG) and a downstream in-frame AUG translation initiation codons., [RefSeq, PubMed]; As an RNA helicase, unwinds RNA and alters RNA structures through ATP binding and hydrolysis. Involved in multiple cellular processes, including pre-mRNA splicing, alternative splicing, ribosomal RNA processing and miRNA processing, as well as transcription regulation. Regulates the alternative splicing of exons exhibiting specific features (PubMed:12138182, PubMed:22266867, PubMed:23022728, PubMed:24910439). For instance, promotes the inclusion of AC-rich alternative exons in CD44 transcripts (PubMed:12138182). This function requires the RNA helicase activity (PubMed:12138182, PubMed:22266867, PubMed:23022728, PubMed:24910439). Affects NFAT5 and histone macro-H2A.1/MACROH2A1 alternative splicing in a CDK9-dependent manner (PubMed:22266867, PubMed:26209609). In NFAT5, promotes the introduction of alternative exon 4, which contains 2 stop codons and may target NFAT5 exon 4-containing transcripts to nonsense-mediated mRNA decay, leading to the down-regulation of NFAT5 protein (PubMed:22266867). Affects splicing of mediators of steroid hormone signaling pathway, including kinases that phosphorylates ESR1, such as CDK2, MAPK1 and GSK3B, and transcriptional regulators, such as CREBBP, MED1, NCOR1 and NCOR2. By affecting GSK3B splicing, participates in ESR1 and AR stabilization (PubMed:24275493). In myoblasts and epithelial cells, cooperates with HNRNPH1 to control the splicing of specific subsets of exons (PubMed:24910439). In addition to binding mature mRNAs, also interacts with certain pri-microRNAs, including MIR663/miR-663a, MIR99B/miR-99b, and MIR6087/miR-6087 (PubMed:25126784). Binds pri-microRNAs on the 3' segment flanking the stem loop via the 5'-[ACG]CAUC[ACU]-3' consensus sequence (PubMed:24581491). Required for the production of subsets of microRNAs, including MIR21 and MIR125B1 (PubMed:24581491, PubMed:27478153). May be involved not only in microRNA primary transcript processing, but also stabilization (By similarity). Participates in MYC down-regulation at high cell density through the production of MYC-targeting microRNAs (PubMed:24581491). Along with DDX5, may be involved in the processing of the 32S intermediate into the mature 28S ribosomal RNA (PubMed:17485482). Promoter-specific transcription regulator, functioning as a coactivator or corepressor depending on the context of the promoter and the transcriptional complex in which it exists (PubMed:15298701). Enhances NFAT5 transcriptional activity (PubMed:22266867). Synergizes with TP53 in the activation of the MDM2 promoter; this activity requires acetylation on lysine residues (PubMed:17226766, PubMed:19995069, PubMed:20663877). May also coactivate MDM2 transcription through a TP53-independent pathway (PubMed:17226766). Coactivates MMP7 transcription (PubMed:17226766). Along with CTNNB1, coactivates MYC, JUN, FOSL1 and cyclin D1/CCND1 transcription (PubMed:17699760). Alone or in combination with DDX5 and/or SRA1 non-coding RNA, plays a critical role in promoting the assembly of proteins required for the formation of the transcription initiation complex and chromatin remodeling leading to coactivation of MYOD1-dependent transcription. This helicase-independent activity is required for skeletal muscle cells to properly differentiate into myotubes (PubMed:17011493, PubMed:24910439). During epithelial-to-mesenchymal transition, coregulates SMAD-dependent transcriptional activity, directly controlling key effectors of differentiation, including miRNAs which in turn directly repress its expression (PubMed:24910439). Plays a role in estrogen and testosterone signaling pathway at several levels. Mediates the use of alternative promoters in estrogen-responsive genes and regulates transcription and splicing of a large number of steroid hormone target genes (PubMed:19995069, PubMed:20406972, PubMed:20663877, PubMed:24275493). Contrary to splicing regulation activity, transcriptional coregulation of the estrogen receptor ESR1 is helicase-independent (PubMed:19718048, PubMed:24275493). Plays a role in innate immunity. Specifically restricts bunyavirus infection, including Rift Valley fever virus (RVFV) or La Crosse virus (LACV), but not vesicular stomatitis virus (VSV), in an interferon- and DROSHA-independent manner (PubMed:25126784). Binds to RVFV RNA, likely via structured viral RNA elements (PubMed:25126784). Promotes mRNA degradation mediated by the antiviral zinc-finger protein ZC3HAV1, in an ATPase-dependent manner (PubMed:18334637)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; DDX17 helicase promotes resolution of R-loop-mediated transcription-replication conflicts in human cells., [RefSeq, PubMed]; DDX17 induces epithelial-mesenchymal transition and metastasis through the miR-149-3p/CYBRD1 pathway in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and splicesosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an ATPase activated by a variety of RNA species, but not by dsDNA. This protein, and that encoded by DDX5 gene, are more closely related to each other than to any other member of the DEAD box family. This gene can encode multiple isoforms due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) start codon. [provided by RefSeq, Apr 2011]., [RefSeq]; Has a role in pre-mRNA splicing, in particular, at the early stages of the splicing reaction involving U1snRNP, [RefSeq, PubMed]; Helicases DDX5 and DDX17 promote heterogeneity in HBV transcription termination in infected human hepatocytes., [RefSeq, PubMed]; LncRNA FAM225B Regulates PDIA4-Mediated Ovarian Cancer Cell Invasion and Migration via Modulating Transcription Factor DDX17. Publication Status: Online-Only, [RefSeq, PubMed]; Results show that the abundant DEAD-box RNA helicase p72, but not its close relative p68, affects the splicing of alternative exons containing AC-rich exon enhancer elements., [RefSeq, PubMed]; [circDDX17 targets miR-223-3p / RIP3 to regulate the proliferation and apoptosis of non-small cell 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": 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": 11, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 7, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "B1AHM0;H3BLZ8;Q69YT1;Q6ICD6", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;2.3.2.-;7.6.2.1;2.3.2.27;7.2.2.-;5.6.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "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:0006357 regulation of transcription by RNA polymerase II;GO:0006396 RNA processing;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051607 defense response to virus", "synthesized_glycan_count": 0, "hit_score": 19.0, "record_id": "Q92841-4", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TC05-1", "uniprot_id": "SAXO6_HUMAN", "mass": 80735.0, "length": 714, "protein_name": "Stabilizer of axonemal microtubules 6", "gene_name": "SAXO6", "organism": "Human", "refseq_name": "nuclear protein MDM1 isoform 4", "refseq_ac": "NP_001191957", "gene_names_uniprotkb": "SAXO6; MDM1", "gene_names_refseq": "MDM1; SAXO6", "protein_names_uniprotkb": "Stabilizer of axonemal microtubules 6; Nuclear protein MDM1", "protein_names_refseq": "Mdm1 nuclear protein; Mdm4, transformed 3T3 cell double minute 1, p53 binding protein; nuclear protein MDM1 isoform 4; nuclear protein MDM1; nuclear protein double minute 1", "tax_id": 9606, "disease": "retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:56890)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;14654843;17924679;18805803;19007248;20166139;23186163;23481700;24275569;25418920;25576301;25892735;26337392;26992070;27920218;28218747;28467828;28832583;28904123;29242379;29393594;29437277;29557506;29769354;30524438;30833945;31154438;31844290;32161166;32488085;32502341;32897882;32938616;33298915;33912179;33981976;34171305;34561969;35051231;36010968", "class_list": "", "function": "Authorse propose that MDM1 is a negative regulator of centriole duplication and that its function is mediated through microtubule binding., [RefSeq, PubMed]; Microtubule-binding protein that negatively regulates centriole duplication. Binds to and stabilizes microtubules (PubMed:26337392)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Not associated with age-related retinal degeneration., [RefSeq, PubMed]; This gene encodes a microtubule-binding nuclear protein that localizes to the centrioles of dividing cells and differentiating multiciliated cells and negatively regulates centriole duplication. The encoded protein is closely associated with the centriole barrel, and resides in the centriole lumen. Naturally-occurring mutations in the orthologous mouse gene are associated with age-related retinal degeneration. [provided by RefSeq, Feb 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": 12, "reported_mutagensis": 4, "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": "B4DM65;E7EPQ3;O43406;Q8WTV9;Q9NR04", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0005874 microtubule;GO:0005814 centriole;GO:0034451 centriolar satellite", "go_biological_process": "GO:0060041 retina development in camera-type eye;GO:0046600 negative regulation of centriole replication", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q8TC05-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TF46-1", "uniprot_id": "DI3L1_HUMAN", "mass": 120787.0, "length": 1054, "protein_name": "DIS3-like exonuclease 1", "gene_name": "DIS3L", "organism": "Human", "refseq_name": "DIS3-like exonuclease 1 isoform 1", "refseq_ac": "NP_001137160", "gene_names_uniprotkb": "DIS3L; DIS3L1; KIAA1955", "gene_names_refseq": "DIS3L1; DIS3L", "protein_names_uniprotkb": "DIS3-like exonuclease 1; 3.1.13.1", "protein_names_refseq": "DIS3 mitotic control homolog-like; DIS3-like exonuclease 1 isoform 1; DIS3-like exonuclease 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:115752)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "11237011;20531386;20531389;23186163;23481700;24715725;25418920;25645385;25880248;25892735;26154972;26811146;26929215;26992070;28904123;29321365;29493099;29557506;30379171;30429286;30484775;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33537174;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34211107;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36215666;36241641;37602378;37938771", "class_list": "", "function": "Catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events (PubMed:20531386, PubMed:20531389, PubMed:37602378). In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA (PubMed:20531386, PubMed:20531389)., [UniProtKB, PubMed, PubMed, PubMed]; Data indicate that hDis3L1 is a novel exosome-associated exoribonuclease in the cytoplasm of human cells., [RefSeq, PubMed]; Data show that hDIS3 and hDIS3L are active exonucleases, but only hDIS3 has retained endonucleolytic activity, and suggest that three different ribonucleases can serve as catalytic subunits for the exosome in human cells., [RefSeq, PubMed]; The cytoplasmic RNA exosome complex degrades unstable mRNAs and is involved in the regular turnover of other mRNAs. The protein encoded by this gene contains 3'-5' exoribonuclease activity and is a catalytic component of this complex. [provided by RefSeq, May 2016]., [RefSeq]; We screened the susceptibility loci for Myocardial infarction (MI) using exome sequencing and validated candidate variants in replication sets. We identified that three genes (GYG1, DIS3L and DDRGK1) were associated with MI at the discovery and replication stages., [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": 3, "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": "Q8N1N8;Q8WTU9;Q96CM7", "ec_number_list": "", "go_molecular_function": "GO:0008859 exoribonuclease II activity;GO:0003723 RNA binding;GO:0019899 enzyme binding;GO:0000175 3'-5'-RNA exonuclease activity", "go_cellular_component": "GO:0005829 cytosol;GO:0000177 cytoplasmic exosome (RNase complex);GO:0000178 exosome (RNase complex)", "go_biological_process": "GO:0006396 RNA processing;GO:0006402 mRNA catabolic process;GO:0016075 rRNA catabolic process;GO:0006401 RNA catabolic process;GO:0010467 gene expression", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q8TF46-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96A54-1", "uniprot_id": "PAQR1_HUMAN", "mass": 42616.0, "length": 375, "protein_name": "Adiponectin receptor protein 1", "gene_name": "ADIPOR1", "organism": "Human", "refseq_name": "adiponectin receptor protein 1", "refseq_ac": "NP_001277482", "gene_names_uniprotkb": "ADIPOR1; CGI-45; PAQR1; TESBP1A", "gene_names_refseq": "ACDCR1; ADIPOR1; CGI-45; CGI45; PAQR1; TESBP1A", "protein_names_uniprotkb": "Adiponectin receptor protein 1; Progestin and adipoQ receptor family member 1; Progestin and adipoQ receptor family member I", "protein_names_refseq": "adiponectin receptor protein 1; progestin and adipoQ receptor family member 1; progestin and adipoQ receptor family member I", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612); hyperinsulinism (Disease Ontology:DOID:2018); prostate adenocarcinoma (Disease Ontology:DOID:2526); hyperglycemia (Disease Ontology:DOID:4195); macular degeneration (Disease Ontology:DOID:4448); end stage renal disease (Disease Ontology:DOID:783); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:51094); (R-HSA-163680)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10698692;11237011;12802337;12878598;14651988;15105989;15277397;15331527;16044242;21289205;23481700;24715725;25418920;25502872;25645385;25855295;26154972;26375851;26578976;26992070;27600516;27846572;27862975;28218747;28228285;28467828;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29786170;29789417;30192525;30315122;30410026;31844290;32157095;32350084;32357974;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33912179;33936100;33968037;34171305;34211107;34357683;34405274;34509645;35051231;35154160;35251023;36429712;36527105;37938771;38063230;38361349", "class_list": "", "function": "ADIPOR1 mRNA levels were significantly lower among transformed lymphocytes from diabetic African-American individuals than among control cell lines., [RefSeq, PubMed]; AdipoR1 receptor expression in human skeletal muscle is subjected to posttranscriptional regulation, including alternative splicing and translational control., [RefSeq, PubMed]; Association of Adiponectin Receptors with Metabolic and Immune Homeostasis Parameters in Colorectal Cancer: In Silico Analysis and Observational Findings. Publication Status: Online-Only, [RefSeq, PubMed]; Circulating adiponectin levels, expression of adiponectin receptors, and methylation of adiponectin gene promoter in relation to Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Cloning of cDNAs encoding adiponectin receptors 1 and 2 (AdipoR1 and AdipoR2) by expression cloning [AdipoR1 & AdipoR2] Erratum:[Nature. 2004 Oct 28;431(7012):1123], [RefSeq, PubMed]; Epression levels of AdipoR1 as well as plasma adiponectin concentration were lower in people with a family history of Type 2., [RefSeq, PubMed]; Here we report the marked expression of mRNAs for the adiponectin receptors AdipoR1 and AdipoR2 in human and rat pancreatic beta cells, at levels similar to liver and greater than muscle., [RefSeq, PubMed]; Myotube mRNA levels of both receptors are associated with distinct metabolic functions but not with insulin sensitivity; AdipoR1, but not AdipoR2, expression correlated with insulin secretion., [RefSeq, PubMed]; Novel Adiponectin Receptor Agonist Inhibits Cholangiocarcinoma via Adenosine Monophosphate-activated Protein Kinase., [RefSeq, PubMed]; Overexpression of salusin-beta downregulates adipoR1 expression to prevent fatty acid oxidation in HepG2 cells., [RefSeq, PubMed]; Receptor for ADIPOQ, an essential hormone secreted by adipocytes that regulates glucose and lipid metabolism (PubMed:12802337, PubMed:25855295). Required for normal glucose and fat homeostasis and for maintaining a normal body weight. ADIPOQ-binding activates a signaling cascade that leads to increased AMPK activity, and ultimately to increased fatty acid oxidation, increased glucose uptake and decreased gluconeogenesis. Has high affinity for globular adiponectin and low affinity for full-length adiponectin (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; This gene encodes a protein which acts as a receptor for adiponectin, a hormone secreted by adipocytes which regulates fatty acid catabolism and glucose levels. Binding of adiponectin to the encoded protein results in activation of an AMP-activated kinase signaling pathway which affects levels of fatty acid oxidation and insulin sensitivity. A pseudogene of this gene is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 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": 7, "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": "B3KMB0;Q53HS7;Q53YY6;Q9Y360", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0055100 adiponectin binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0010633 negative regulation of epithelial cell migration;GO:0010906 regulation of glucose metabolic process;GO:0019216 regulation of lipid metabolic process;GO:0019395 fatty acid oxidation;GO:0042593 glucose homeostasis", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q96A54-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BVM2-1", "uniprot_id": "DPCD_HUMAN", "mass": 23240.0, "length": 203, "protein_name": "Protein DPCD", "gene_name": "DPCD", "organism": "Human", "refseq_name": "protein DPCD isoform 2", "refseq_ac": "NP_056263", "gene_names_uniprotkb": "DPCD", "gene_names_refseq": "DPCD", "protein_names_uniprotkb": "Protein DPCD", "protein_names_refseq": "RP11-529I10.4; deleted in a mouse model of primary ciliary dyskinesia; protein DPCD isoform 2; protein DPCD", "tax_id": 9606, "disease": "hydrocephalus (Disease Ontology:DOID:10908); primary ciliary dyskinesia (Disease Ontology:DOID:9562)", "pathway": " (hsa:25911)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;14630615;22645359;23301498;23481700;25576301;26024233;26154972;26992070;29437277;29493099;30410026;31844290;32157095;32488085;32897882;32938616;33298915;33633747;33968037;34019948;34087483;35580925;35901867;36010968;39894887", "class_list": "", "function": "A novel candidate gene for primary ciliary dyskinesia GeneRIF: The mouse homolog of this gene (named Dpcd, for Deleted in a mouse model of Primary Ciliary Dyskinesia) appears to be responsible for an inner arm defect in cilia., [RefSeq, PubMed]; Deciphering cellular and molecular determinants of human DPCD protein in complex with RUVBL1/RUVBL2 AAA-ATPases., [RefSeq, PubMed]; May play a role in the formation or function of ciliated cells., [UniProtKB, PubMed]; This gene in mouse encodes a protein that may be involved in the generation and maintenance of ciliated cells. In mouse, expression of this gene increases during ciliated cell differentiation, and disruption of this gene has been linked to primary ciliary dyskinesia. [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": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K289;Q6QNL3;Q8N5R1;Q9UFY6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9BVM2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P10912-1", "uniprot_id": "GHR_HUMAN", "mass": 71500.0, "length": 638, "protein_name": "Growth hormone receptor", "gene_name": "GHR", "organism": "Human", "refseq_name": "growth hormone receptor isoform 1 precursor", "refseq_ac": "NP_000154", "gene_names_uniprotkb": "GHR", "gene_names_refseq": "GHBP; GHIP; GHR", "protein_names_uniprotkb": "Growth hormone receptor; GH receptor; Serum-binding protein; Somatotropin receptor", "protein_names_refseq": "GH receptor; growth hormone binding protein; growth hormone receptor isoform 1 precursor; mutant growth hormone receptor; serum binding protein; somatotropin receptor", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); isolated growth hormone deficiency (Disease Ontology:DOID:0060870); osteoporosis (Disease Ontology:DOID:11476); osteopetrosis (Disease Ontology:DOID:13533); familial hypercholesterolemia (Disease Ontology:DOID:13810); breast cancer (Disease Ontology:DOID:1612); colonic disease (Disease Ontology:DOID:5353); muscular atrophy (Disease Ontology:DOID:767); osteoarthritis (Disease Ontology:DOID:8398); type 2 diabetes mellitus (Disease Ontology:DOID:9352); Laron syndrome (Disease Ontology:DOID:9521); type 1 diabetes mellitus (Disease Ontology:DOID:9744); short stature due to partial GHR deficiency (MONDO:MONDO:0011420)", "pathway": " (hsa:2690); (R-HSA-1170546); (R-HSA-982772)", "pathway_count": 3, "publication_count": 67, "publication_id_list": "10.1038/emboj.2013.79;10391209;10764769;10870033;11237011;11785980;12907755;12910492;14678285;15082796;1549776;15690087;1569971;15767667;16546209;16840534;17675186;18488018;1948064;19927328;20053995;21980433;22649370;23584533;2406245;24275569;25502872;25505247;2779634;2813379;28228285;2825030;29242379;29557506;30459171;31182716;31844290;3349036;33774052;33968037;34509645;34857742;35051231;35780715;36061351;36384443;36562110;39303817;7565946;7691587;8137822;8188682;8343952;8360189;8421103;8450064;8504296;8855247;8943276;9024232;9030599;9058373;9121492;9360546;9661642;9814495;9851797", "class_list": "", "function": "Associations of GHR, IGF-1 and IGFBP-3 expression in adipose tissue cells with obesity-related alterations in corresponding circulating levels and adipose tissue function in children., [RefSeq, PubMed]; CRISPR-Cas9 mediated d3GHR knockout in HEK293 cells: Revealing the longevity associated isoform stress resilience., [RefSeq, PubMed]; Conditional gene regulation models demonstrate a pro-proliferative role for growth hormone receptor in prostate cancer., [RefSeq, PubMed]; Correlation Study between Levels of Gastrin, Serum IGF-1, and GHBP and Growth and Development in Children with Short Stature Based on Big Data Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of IGF-1 receptor and GH receptor in hepatic tissue of patients with nonalcoholic fatty liver disease and nonalcoholic steatohepatitis., [RefSeq, PubMed]; Receptor for pituitary gland growth hormone (GH1) involved in regulating postnatal body growth (PubMed:1549776, PubMed:2825030, PubMed:8943276). On ligand binding, couples to the JAK2/STAT5 pathway (PubMed:1549776, PubMed:15690087, PubMed:2825030, PubMed:8943276)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The soluble form (GHBP) acts as a reservoir of growth hormone in plasma and may be a modulator/inhibitor of GH signaling., [UniProtKB, PubMed]; This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]., [RefSeq]; Up-regulates the production of the soluble Growth hormone-binding protein form (GHBP) and acts as a negative inhibitor of growth hormone signaling., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 5, "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": 7, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 13, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q9HCX2", "ec_number_list": "", "go_molecular_function": "GO:0019838 growth factor binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0008289 lipid binding;GO:0070064 proline-rich region binding", "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:0006897 endocytosis;GO:0008284 positive regulation of cell population proliferation;GO:0031623 receptor internalization;GO:0032869 cellular response to insulin stimulus;GO:0040014 regulation of multicellular organism growth", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "P10912-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15392-1", "uniprot_id": "DHC24_HUMAN", "mass": 60101.0, "length": 516, "protein_name": "Delta(24)-sterol reductase", "gene_name": "DHCR24", "organism": "Human", "refseq_name": "delta(24)-sterol reductase precursor", "refseq_ac": "NP_055577", "gene_names_uniprotkb": "DHCR24; KIAA0018", "gene_names_refseq": "DCE; DHCR24; Nbla03646; SELADIN1; seladin-1", "protein_names_uniprotkb": "Delta(24)-sterol reductase; 1.3.1.72; 24-dehydrocholesterol reductase; 3-beta-hydroxysterol Delta-24-reductase; Diminuto/dwarf1 homolog; Seladin-1", "protein_names_refseq": "3 beta-hydroxysterol delta 24-reductase; 3beta-hydroxysterol delta24 reductase; delta(24)-sterol reductase precursor; delta(24)-sterol reductase; desmosterol-to-cholesterol enzyme; diminuto/dwarf1 homolog; seladin 1; selective AD indicator 1", "tax_id": 9606, "disease": "desmosterolosis (Disease Ontology:DOID:0070654); lipid metabolism disorder (Disease Ontology:DOID:3146)", "pathway": " (hsa:1718); (R-HSA-6807047); (R-HSA-6807062); (R-HSA-9969901)", "pathway_count": 4, "publication_count": 125, "publication_id_list": "10369263;10391218;10391219;11007892;11237011;11519011;12189593;12618959;12812989;12829805;14404284;14506130;15001630;16784888;17287340;17975675;18991276;21285510;21671375;21872626;21993680;22010141;22178193;22424782;22544926;22645359;23050906;23481700;24714562;24715725;25418920;25576301;25637936;25645385;25880248;25892735;26114596;26154972;26375851;26728094;26811146;26929215;26992070;27397612;27846572;27920218;28218747;28228285;28467828;28510447;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29769354;30315122;30410026;30429286;30484775;30626607;30779550;30833945;31154438;31217245;31222486;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33043033;33141586;33298915;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34932366;35051231;35083852;35154160;35251023;35318648;35580925;36010968;36241641;36284347;36483599;36581221;36946578;37011864;37458798;37938771;38407305;38665916;8619637;8663358;8797093;9465114", "class_list": "", "function": "Anticancer peptide Q7 suppresses the growth and migration of human endometrial cancer by inhibiting DHCR24 expression and modulating the AKT-mediated pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis (PubMed:11519011, PubMed:21671375, PubMed:22178193, PubMed:25637936). In addition to its cholesterol-synthesizing activity, can protect cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress (PubMed:11007892, PubMed:22010141). Also protects against amyloid-beta peptide-induced apoptosis (PubMed:11007892)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Cellular cholesterol loss by DHCR24 knockdown leads to Abeta production by changing APP intracellular localization., [RefSeq, PubMed]; DHCR24 Insufficiency Promotes Vascular Endothelial Cell Senescence and Endothelial Dysfunction via Inhibition of Caveolin-1/ERK Signaling., [RefSeq, PubMed]; High fat diet induces brain injury and neuronal apoptosis via down-regulating 3-beta hydroxycholesterol 24 reductase (DHCR24)., [RefSeq, PubMed]; LncRNA ENST00000370438 promotes cell proliferation by upregulating DHCR24 in breast cancer., [RefSeq, PubMed]; Seladin-1/DHCR24 is modulated by the ACTH/cAMP-driven pathway and its expression is reduced in adrenal cancer, [RefSeq, PubMed]; This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [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": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z817;D3DQ51;Q9HBA8", "ec_number_list": "1.3.1.72", "go_molecular_function": "GO:0019899 enzyme binding;GO:0071949 FAD binding;GO:0042605 peptide antigen binding;GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor;GO:0000246 Delta24(24-1) sterol reductase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0016020 membrane", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0006695 cholesterol biosynthetic process;GO:0007265 Ras protein signal transduction;GO:0009725 response to hormone;GO:0043588 skin development", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q15392-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P09622-1", "uniprot_id": "DLDH_HUMAN", "mass": 54177.0, "length": 509, "protein_name": "Dihydrolipoyl dehydrogenase, mitochondrial", "gene_name": "DLD", "organism": "Human", "refseq_name": "dihydrolipoyl dehydrogenase, mitochondrial isoform 1 precursor", "refseq_ac": "NP_000099", "gene_names_uniprotkb": "DLD; GCSL; LAD; PHE3", "gene_names_refseq": "DLDD; DLDH; DLD; E3; GCSL; LAD; OGDC-E3; PHE3", "protein_names_uniprotkb": "Dihydrolipoyl dehydrogenase, mitochondrial; 1.8.1.4; Dihydrolipoamide dehydrogenase; Glycine cleavage system L protein", "protein_names_refseq": "E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex; diaphorase; dihydrolipoyl dehydrogenase, mitochondrial isoform 1 precursor; dihydrolipoyl dehydrogenase, mitochondrial; epididymis secretory sperm binding protein; glycine cleavage system L protein; glycine cleavage system protein L; lipoamide dehydrogenase; lipoamide reductase; lipoyl dehydrogenase; pyruvate dehydrogenase complex subunit E3, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex, glycine cleavage system protein L", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); biliary tract benign neoplasm (Disease Ontology:DOID:0050625); alopecia universalis (Disease Ontology:DOID:0050634); stroke (Disease Ontology:DOID:0051061); primary cutaneous T-cell non-Hodgkin lymphoma (Disease Ontology:DOID:0060061); dihydrolipoamide dehydrogenase deficiency (Disease Ontology:DOID:0061204); COVID-19 (Disease Ontology:DOID:0080600); polymyositis (Disease Ontology:DOID:0080745); aspirin-induced respiratory disease (Disease Ontology:DOID:0080822); pelvic inflammatory disease (Disease Ontology:DOID:1003); trypanosomiasis (Disease Ontology:DOID:10113); dermatomyositis (Disease Ontology:DOID:10223); Alzheimer's disease (Disease Ontology:DOID:10652); nephritis (Disease Ontology:DOID:10952); anogenital venereal wart (Disease Ontology:DOID:11168); nephrotic syndrome (Disease Ontology:DOID:1184); primary biliary cholangitis (Disease Ontology:DOID:12236); vitiligo (Disease Ontology:DOID:12306); Sjogren's syndrome (Disease Ontology:DOID:12894); carotid stenosis (Disease Ontology:DOID:13001); Behcet's disease (Disease Ontology:DOID:13241); temporal arteritis (Disease Ontology:DOID:13375); cholestasis (Disease Ontology:DOID:13580); hypothyroidism (Disease Ontology:DOID:1459); cystic echinococcosis (Disease Ontology:DOID:1495); cognitive disorder (Disease Ontology:DOID:1561); cystitis (Disease Ontology:DOID:1679); pancreatic cancer (Disease Ontology:DOID:1793); hepatitis C (Disease Ontology:DOID:1883); hepatitis B (Disease Ontology:DOID:2043); autoimmune hepatitis (Disease Ontology:DOID:2048); multiple sclerosis (Disease Ontology:DOID:2377); irritant dermatitis (Disease Ontology:DOID:2772); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); atopic dermatitis (Disease Ontology:DOID:3310); middle cerebral artery infarction (Disease Ontology:DOID:3525); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); pulmonary fibrosis (Disease Ontology:DOID:3770); systemic scleroderma (Disease Ontology:DOID:418); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); autoimmune thyroiditis (Disease Ontology:DOID:7188); herpes zoster (Disease Ontology:DOID:8536); psoriasis (Disease Ontology:DOID:8893); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); leishmaniasis (Disease Ontology:DOID:9065); acute myocardial infarction (Disease Ontology:DOID:9408); type 1 diabetes mellitus (Disease Ontology:DOID:9744); toxocariasis (Disease Ontology:DOID:9790)", "pathway": " (hsa:1738); (R-HSA-204174); (R-HSA-5362517); (R-HSA-6783984); (R-HSA-70895); (R-HSA-9837999); (R-HSA-9853506); (R-HSA-9858328); (R-HSA-9859138); (R-HSA-9861559); (R-HSA-9865113); (R-HSA-9907570); (R-HSA-9912481); (R-HSA-9912529)", "pathway_count": 14, "publication_count": 206, "publication_id_list": "10.1101/2023.09.13.557529;10448086;10493790;10745006;10832746;10947204;11013134;11181649;11237011;11264579;11327815;11406611;11485553;11486000;11687750;11738050;11839747;11909957;11923310;12198491;12269802;12359132;12434311;12651851;12696021;12925875;1332063;13416257;14623864;14638692;14752098;15166214;1527093;15342248;15522782;15576032;15712224;15855260;15866176;15870080;15888450;15946682;16023992;16049940;16051266;16115876;16141215;16263718;16442803;16770810;17101804;17297443;17371050;17404228;17532339;17544412;17579211;1847055;18542081;19144697;1959641;19608861;19833728;19841671;19850744;1993704;20042001;20068231;20160912;20215566;2025283;20361979;20385101;20884751;21504868;21654843;21998312;22262461;22291014;22710082;22871568;22905912;22956686;23086801;23141294;23186163;23201127;23485643;23931759;23991366;24315374;24449431;24495017;24520911;25210035;25505266;25525879;25860818;26251176;26504172;26758079;26853435;26923599;27452731;27496948;27642048;27920218;28218747;28377575;28396416;28435050;28467828;28514659;28649982;28832583;28855257;28904123;29191460;29211711;29242379;29301859;29314611;29437277;29557506;29632711;29932645;30120231;30192525;30379171;30573663;3082934;30929736;31020640;31217245;31327635;31435015;31695197;3174635;31844290;32119511;32157095;32350084;32357974;32387766;32633484;32695416;3278312;32938616;32983136;33043033;33141586;33257573;33298915;33592498;33912179;33936100;33968037;34087483;34229054;34357683;34704252;34725712;34943861;35051231;35052424;35154160;35251023;35272141;35318648;35870450;3597357;36215666;36241641;36629048;36729635;3693355;37938771;38077227;38253038;38665916;40596516;6469978;6928646;7356336;7499431;7623837;7704533;8076640;8406489;8506365;8798399;8824301;8968745;9045657;9165094;9214289;9242632;9395502;9405293;9540846;9621512;9651365;9710704;9815194;9889013;9934985", "class_list": "", "function": "Certain DLD mutations can simultaneously induce the loss of a primary metabolic activity and the gain of a moonlighting proteolytic activity thus contributing to the metabolic derangement associated with DLD deficiency. GeneRIF: Human, mouse, and pig Dld has moonlighting function as a protease in addition to its canonical function as a a dehydrogenase., [RefSeq, PubMed]; Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched-chain amino acid-dehydrogenase complex) (PubMed:15712224, PubMed:16442803, PubMed:16770810, PubMed:17404228, PubMed:20160912, PubMed:20385101). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711). A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A (PubMed:29211711). In monomeric form may have additional moonlighting function as serine protease (PubMed:17404228). Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction (By similarity). The pyruvate dehydrogenase (PDH) complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links cytoplasmic glycolysis and the mitochondrial tricarboxylic acid (TCA) cycle (Probable). It contains multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and dihydrolipoamide dehydrogenase (E3) (Probable). The E3 subunit catalyzes reoxidation of the dihydrolipoyl moiety on lipoyl-bearing domains (LBDs) of E2 with NAD+ as the ultimate electron acceptor (PubMed:16442803, PubMed:16770810, PubMed:20160912, PubMed:20385101)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Pan-Cancer Analysis of the Cuproptosis-Related Gene DLD. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 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": 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": 15, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 51, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R5X0;B4DHG0;B4DT69;Q14131;Q14167;Q59EV8;Q8WTS4", "ec_number_list": "2.7.11.-;2.7.11.1;2.7.11.4;2.3.3.1;7.1.1.2;3.6.4.10;1.2.1.3;7.1.2.2;4.2.1.2;1.2.4.1;1.8.1.4;2.3.1.-;2.3.1.12;5.6.1.7;2.3.1.168;1.2.4.4;2.3.1.37;4.98.1.1;1.1.1.38;2.3.1.9;1.2.1.36;1.7.1.-;1.2.1.28;2.3.1.61;1.1.1.37;5.3.3.8;1.1.1.42;3.1.2.2;1.1.1.41;2.8.3.5;3.5.3.1;1.2.4.2;1.1.1.30;5.3.3.21;2.7.11.2;3.4.21.92;1.1.1.35;3.1.3.16;3.1.3.52;1.2.4.-;6.2.1.-;6.2.1.4;4.2.1.3;2.3.1.41;3.1.3.43;1.3.8.5", "go_molecular_function": "GO:0050660 flavin adenine dinucleotide binding;GO:0004148 dihydrolipoyl dehydrogenase (NADH) activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0031514 motile cilium", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0006103 2-oxoglutarate metabolic process;GO:0009083 branched-chain amino acid catabolic process;GO:0006086 pyruvate decarboxylation to acetyl-CoA;GO:0120551 2-oxoglutarate decarboxylation to succinyl-CoA", "synthesized_glycan_count": 0, "hit_score": 21.1, "record_id": "P09622-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16829-1", "uniprot_id": "DUS7_HUMAN", "mass": 44957.0, "length": 419, "protein_name": "Dual specificity protein phosphatase 7", "gene_name": "DUSP7", "organism": "Human", "refseq_name": "dual specificity protein phosphatase 7", "refseq_ac": "NP_001938", "gene_names_uniprotkb": "DUSP7; PYST2", "gene_names_refseq": "DUSP7; MKPX; PYST2", "protein_names_uniprotkb": "Dual specificity protein phosphatase 7; 3.1.3.16; 3.1.3.48; Dual specificity protein phosphatase PYST2", "protein_names_refseq": "dual specificity protein phosphatase 7; dual specificity protein phosphatase PYST2", "tax_id": 9606, "disease": "tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); adenoid cystic carcinoma (Disease Ontology:DOID:0080202); lung pleomorphic carcinoma (Disease Ontology:DOID:0080899); transitional cell carcinoma (Disease Ontology:DOID:2671); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); stomach carcinoma (Disease Ontology:DOID:5517)", "pathway": " (hsa:1849); (R-HSA-112409); (R-HSA-202670); (R-HSA-5675221); (R-HSA-9652817)", "pathway_count": 5, "publication_count": 78, "publication_id_list": "10206983;10415025;10490027;10702794;10757792;11237011;12583813;14576828;14603440;14724641;15664191;15851477;16892053;17097642;17208316;17322878;17724343;18294816;18332145;18515281;18547165;19091743;19158341;20166139;20332238;20463170;21779496;22569528;22730326;23105109;24390348;25314968;25576301;25597358;25631445;25892735;26057789;26375851;26992070;27760319;28228285;28832583;28834231;29242379;29493099;29557506;29769354;30315122;30429286;30524438;31844290;31848261;32157095;32357974;32387766;32897882;32938616;32983136;33537174;33592498;33717175;33865857;33912179;33968037;34405274;34435746;34509645;34907034;34932366;35051231;35580925;36010968;36241641;36284347;36581221;37938771;8670865;9788880", "class_list": "", "function": "DUSP7 inhibits cervical cancer progression by inactivating the RAS pathway., [RefSeq, PubMed]; DUSP7 regulates the activity of ERK2 to promote proper chromosome alignment during cell division., [RefSeq, PubMed]; Dual specificity protein phosphatase (PubMed:9788880). Shows high activity towards MAPK1/ERK2 (PubMed:9788880). Also has lower activity towards MAPK14 and MAPK8 (PubMed:9788880). In arrested oocytes, plays a role in meiotic resumption (By similarity). Promotes nuclear envelope breakdown and activation of the CDK1/Cyclin-B complex in oocytes, probably by dephosphorylating and inactivating the conventional protein kinase C (cPKC) isozyme PRKCB (By similarity). May also inactivate PRKCA and/or PRKCG (By similarity). Also important in oocytes for normal chromosome alignment on the metaphase plate and progression to anaphase, where it might regulate activity of the spindle-assembly checkpoint (SAC) complex (By similarity)., [UniProtKB, PubMed, UniProtKB]; Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. DUSP7 belongs to a class of DUSPs, designated MKPs, that dephosphorylate MAPK (mitogen-activated protein kinase) proteins ERK (see MIM 601795), JNK (see MIM 601158), and p38 (see MIM 600289) with specificity distinct from that of individual MKP proteins. MKPs contain a highly conserved C-terminal catalytic domain and an N-terminal Cdc25 (see MIM 116947)-like (CH2) domain. MAPK activation cascades mediate various physiologic processes, including cellular proliferation, apoptosis, differentiation, and stress responses (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009]., [RefSeq]; Transcription Factor FOSL1 Enhances Drug Resistance of Breast Cancer through DUSP7-Mediated Dephosphorylation of PEA15., [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": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2M3J7;Q8NFJ0", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.21;3.1.3.18;3.1.3.-;3.1.3.5;3.1.3.2;2.7.11.24;2.7.10.1;3.1.3.67;3.1.3.53;2.7.11.22;3.1.3.52;3.1.3.27;3.1.3.86;3.1.3.36;3.1.3.74", "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity;GO:0008138 protein tyrosine/serine/threonine phosphatase activity;GO:0017017 MAP kinase tyrosine/serine/threonine phosphatase activity;GO:0008330 protein tyrosine/threonine phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0035335 peptidyl-tyrosine dephosphorylation;GO:0000165 MAPK cascade;GO:0070371 ERK1 and ERK2 cascade;GO:0070373 negative regulation of ERK1 and ERK2 cascade;GO:0043407 negative regulation of MAP kinase activity", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q16829-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NDL9-1", "uniprot_id": "CBPC5_HUMAN", "mass": 97534.0, "length": 886, "protein_name": "Cytosolic carboxypeptidase-like protein 5", "gene_name": "AGBL5", "organism": "Human", "refseq_name": "cytosolic carboxypeptidase-like protein 5 isoform 3", "refseq_ac": "NP_001030584", "gene_names_uniprotkb": "AGBL5; CCP5", "gene_names_refseq": "AGBL5; CCP5; RP75", "protein_names_uniprotkb": "Cytosolic carboxypeptidase-like protein 5; 3.4.17.-; 3.4.17.24; ATP/GTP-binding protein-like 5; Protein deglutamylase CCP5", "protein_names_refseq": "ATP/GTP binding protein like 5; cytosolic carboxypeptidase 5; cytosolic carboxypeptidase-like protein 5 isoform 3; cytosolic carboxypeptidase-like protein 5; protein deglutamylase CCP5", "tax_id": 9606, "disease": "retinitis pigmentosa 75 (Disease Ontology:DOID:0110361)", "pathway": " (hsa:60509); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "11237011;1520276;15890843;16901895;17244817;17244818;17360631;17499049;18331838;19524510;19531357;19913121;20519502;20628086;21074048;23085998;23358242;23481700;25103237;25468068;25505266;25576301;25880248;25957412;26355662;26720455;26992070;27764769;27842159;27862975;28832583;28904123;29146868;29242379;29557506;29789417;30379171;30429286;30573663;30779550;30925032;31217245;31844290;32157095;32161166;32357974;32387766;32897882;32938616;33298915;33592498;33968037;34357683;34509645;35051231;35318648;36010968;36284347;37226238;38078364;39020174;39672920;7452228", "class_list": "", "function": "CCP5 and CCP6 retain CP110 and negatively regulate ciliogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Metallocarboxypeptidase that mediates deglutamylation of tubulin and non-tubulin target proteins. Catalyzes the removal of polyglutamate side chains present on the gamma-carboxyl group of glutamate residues within the C-terminal tail of alpha- and beta-tubulin. Cleaves alpha- and gamma-linked polyglutamate tubulin side-chain, as well as the branching point glutamate. Also catalyzes the removal of alpha-linked glutamate residues from the carboxy-terminus of alpha-tubulin. Mediates deglutamylation of nucleotidyltransferase CGAS, leading to CGAS antiviral defense response activation., [UniProtKB, UniProtKB]; Mutations in AGBL5 associated with Retinitis pigmentosa., [RefSeq, 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]; The identification of AGBL5 and TTLL5, a previously described RP-associated gene encoding the tubulin tyrosine ligase-like family, member 5 protein, highlights the importance of poly- and deglutamylation in retinal homeostasis., [RefSeq, PubMed]; This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a 'dual-functional' deglutamylase that can remove glutamate residues from both carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa. [provided by RefSeq, Jul 2016]., [RefSeq]; Tubulin code eraser CCP5 binds branch glutamates by substrate deformation., [RefSeq, PubMed]; WES identified a homozygous frameshift mutation (c.1787_1788del, p.His596Argfs*47) in AGBL5, associated with nonsyndromic RP., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 35, "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": "A2VDI7;B7WPG9;B7Z7I7;D6W548;Q53SW0;Q53SZ0;Q96IK8;Q9H6V0;Q9H8P8", "ec_number_list": "3.6.5.-;3.4.17.-;3.4.17.24", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004181 metallocarboxypeptidase activity;GO:0015631 tubulin binding;GO:0008237 metallopeptidase activity;GO:0004180 carboxypeptidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0015630 microtubule cytoskeleton;GO:0030496 midbody", "go_biological_process": "GO:0006508 proteolysis;GO:0051607 defense response to virus", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q8NDL9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9C0B2-1", "uniprot_id": "CFA74_HUMAN", "mass": 178589.0, "length": 1584, "protein_name": "Cilia- and flagella-associated protein 74", "gene_name": "CFAP74", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 74", "refseq_ac": "NP_001291289", "gene_names_uniprotkb": "CFAP74; C1orf222; KIAA1751", "gene_names_refseq": "C1orf222; CFAP74; CILD49; KIAA1751", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 74", "protein_names_refseq": "cilia- and flagella-associated protein 74", "tax_id": 9606, "disease": "primary ciliary dyskinesia (Disease Ontology:DOID:9562); ciliary dyskinesia, primary, 49, without situs inversus (MONDO:MONDO:0859353)", "pathway": " (hsa:85452)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;21555518;27600516;28657654;28832583;30192525;30379171;31844290;32387766;32555313;33141586;33912179;36047773;36215666;37217939;38253038;39894887", "class_list": "", "function": "As part of the central apparatus of the cilium axoneme may play a role in cilium movement. May play an important role in sperm architecture and function., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype., [RefSeq, PubMed]; KIAA1751 is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells., [RefSeq, PubMed]; Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure., [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": 36, "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": "A4VCI2;H7C4E1;Q5T2D9;Q5T2E0;Q69YW0;Q6ZSJ4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0036126 sperm flagellum;GO:0005930 axoneme", "go_biological_process": "GO:0035082 axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q9C0B2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBU2-1", "uniprot_id": "DKK2_HUMAN", "mass": 28447.0, "length": 259, "protein_name": "Dickkopf-related protein 2", "gene_name": "DKK2", "organism": "Human", "refseq_name": "dickkopf-related protein 2 precursor", "refseq_ac": "NP_055236", "gene_names_uniprotkb": "DKK2; PRO1316", "gene_names_refseq": "DKK-2; DKK2", "protein_names_uniprotkb": "Dickkopf-related protein 2; Dickkopf-2; Dkk-2; hDkk-2", "protein_names_refseq": "dickkopf 2 homolog; dickkopf homolog 2; dickkopf-2; dickkopf-related protein 2 precursor; dickkopf-related protein 2; hDkk-2", "tax_id": 9606, "disease": "chronic recurrent multifocal osteomyelitis (Disease Ontology:DOID:0060645); COVID-19 (Disease Ontology:DOID:0080600); cholesteatoma of middle ear (Disease Ontology:DOID:10964); pulpitis (Disease Ontology:DOID:11121); severe acute respiratory syndrome (Disease Ontology:DOID:2945); systemic scleroderma (Disease Ontology:DOID:418); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:27123); (R-HSA-201681); (R-HSA-3772470); (R-HSA-5339717); (R-HSA-9943962)", "pathway_count": 5, "publication_count": 99, "publication_id_list": "10.1101/2023.09.13.557529;10198061;10201374;10347172;10570958;10921920;11029007;11137016;11237011;11274398;11356022;11357136;11433302;11448771;11493532;11507205;11742004;11744694;12050670;12167704;12205098;12223464;12527209;12775774;12897152;12975309;14636582;14981260;15084453;15208637;15256437;15454084;15459103;15778503;15908424;15960975;16095617;16116452;16172602;16280981;16427602;16554443;16723543;16878130;16949368;16971168;17027977;17047023;17143291;17234765;17350655;17462603;17603073;18044981;18077588;18322270;18378692;18423204;18502762;18606139;19000841;19158955;19174556;19208630;19307728;19619488;19755491;20004982;20053636;20093360;20453063;21383061;21743455;21875946;21899694;21944579;21984209;22000855;22000856;22014570;22411803;22653731;22773843;22951645;22986341;23256519;23285124;23408615;23791946;28533432;31848261;32945363;33679613;33909798;38795388;6261960;9135132;9391096;9501980", "class_list": "", "function": "Analysis of individual Dkk domains and chimeric Dkks shows that the carboxy-terminal domains of both Dkk1 & 2 associate with LRP6 and are necessary and sufficient for Wnt8 inhibition., [RefSeq, PubMed]; Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (By similarity)., [UniProtKB]; DKK2 promotes the progression of oral squamous cell carcinoma through the PI3K/AKT signaling pathway., [RefSeq, PubMed]; G Protein-Coupled Estrogen Receptor Correlates With Dkk2 Expression and Has Prognostic Impact in Ovarian Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]; MiR4833p promotes the osteogenesis of human osteoblasts by targeting Dikkopf 2 (DKK2) and the Wnt signaling pathway., [RefSeq, PubMed]; RNAM EXPRESSION AND DNA METHYLATION OF DKK2 GENE IN COLORECTAL CANCER., [RefSeq, PubMed]; This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. It can act as either an agonist or antagonist of Wnt/beta-catenin signaling, depending on the cellular context and the presence of the co-factor kremen 2. Activity of this protein is also modulated by binding to the Wnt co-receptor LDL-receptor related protein 6 (LRP6). [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0AVE9;B2R6S7;Q9UIU3", "ec_number_list": "", "go_molecular_function": "GO:0048019 receptor antagonist activity;GO:0039706 co-receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0005576 extracellular region", "go_biological_process": "GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0016055 Wnt signaling pathway;GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:0030178 negative regulation of Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q9UBU2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75319-3", "uniprot_id": "DUS11_HUMAN", "mass": 38939.0, "length": 330, "protein_name": "RNA/RNP complex-1-interacting phosphatase", "gene_name": "DUSP11", "organism": "Human", "refseq_name": "RNA/RNP complex-1-interacting phosphatase isoform 2", "refseq_ac": "NP_001411578", "gene_names_uniprotkb": "DUSP11; PIR1", "gene_names_refseq": "DUSP11; PIR1", "protein_names_uniprotkb": "RNA/RNP complex-1-interacting phosphatase; 3.1.3.-; Dual specificity protein phosphatase 11; Phosphatase that interacts with RNA/RNP complex 1", "protein_names_refseq": "RNA/RNP complex 1-interacting; RNA/RNP complex-1-interacting phosphatase isoform 2; RNA/RNP complex-1-interacting phosphatase; RNA/RNP complex-interacting phosphatase; dual specificity protein phosphatase 11; phosphatase that interacts with RNA/RNP complex 1; serine/threonine specific protein phosphatase", "tax_id": 9606, "disease": "", "pathway": " (hsa:8446)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10.1101/2023.09.13.557529;10347225;19120688;23481700;24447265;24531476;27893789;27920218;28228285;28649982;28832583;29118270;29242379;29393594;29508533;29672716;30038017;30315122;30779550;31092671;31154438;31848261;34019948;38665916;39048662;9685386", "class_list": "", "function": "Atypical phosphatase DUSP11 inhibition promotes nc886 expression and potentiates gemcitabine-mediated cell death through NF-kB modulation., [RefSeq, PubMed]; DUSP11 limits both miR-122-dependent and miR-122-independent Hepatitis C RNA accumulation., [RefSeq, PubMed]; PIR gene expression is highly dependent on the expression of HR-HPV E6 and E7 oncoproteins HPV-positive cell lines., [RefSeq, PubMed]; Possesses RNA 5'-triphosphatase and diphosphatase activities, but displays a poor protein-tyrosine phosphatase activity. In addition, has phosphatase activity with ATP, ADP and O-methylfluorescein phosphate (in vitro). Binds to RNA. May participate in nuclear mRNA metabolism., [UniProtKB, PubMed, PubMed, PubMed]; Results implicate DUSP11 as an important component of XRN-mediated restriction of hepatitis C virus replication., [RefSeq, PubMed]; Results suggest that DUSP11 contributes to p53-dependent inhibition of cell proliferation and that it might be involved in regulating RNA splicing through SAM68, [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 is 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 is localized to the nucleus and binds directly to RNA and splicing factors, and thus it is suggested to participate in nuclear mRNA metabolism. [provided by RefSeq, Sep 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": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 7, "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": "B2RCT8;C9JYA6;Q6AI47;Q9BWE3", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0016791 phosphatase activity;GO:0004651 polynucleotide 5'-phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0016607 nuclear speck", "go_biological_process": "GO:0006396 RNA processing;GO:0006470 protein dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "O75319-3", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PD62-1", "uniprot_id": "CTR9_HUMAN", "mass": 133502.0, "length": 1173, "protein_name": "RNA polymerase-associated protein CTR9 homolog", "gene_name": "CTR9", "organism": "Human", "refseq_name": "RNA polymerase-associated protein CTR9 homolog isoform 1", "refseq_ac": "NP_055448", "gene_names_uniprotkb": "CTR9; KIAA0155; SH2BP1", "gene_names_refseq": "CTR9; SH2BP1; TSBP; p150TSP; p150", "protein_names_uniprotkb": "RNA polymerase-associated protein CTR9 homolog; SH2 domain-binding protein 1", "protein_names_refseq": "CTR9 homolog, Paf1/RNA polymerase II complex component; Ctr9, Paf1/RNA polymerase II complex component, homolog; RNA polymerase-associated protein CTR9 homolog isoform 1; RNA polymerase-associated protein CTR9 homolog; SH2 domain binding protein 1 (tetratricopeptide repeat containing); TPR-containing, SH2-binding phosphoprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9646); (R-HSA-112382); (R-HSA-674695); (R-HSA-75955); (R-HSA-8866654); (R-HSA-9920588); (R-HSA-9943411)", "pathway_count": 7, "publication_count": 182, "publication_id_list": "10199401;10199952;10562279;11237011;11313498;11313499;11740563;11859374;11884399;12676794;12682017;15215855;15215856;15302935;15489290;15647753;16024656;16263726;16307923;16372014;16868077;16964243;17081983;17108083;17130289;17234882;17433364;17717186;17726030;18042460;18316726;18359941;18452278;18496526;18669648;18691976;18719106;19208625;19345177;19367720;1939271;19410543;19413330;19415658;19651622;19664994;19664995;19690332;19691289;19723507;19754307;19952111;20068231;20159561;20166139;20178742;20211137;20230923;20541477;21203937;21329877;21329879;21396873;21406692;21554508;21566123;22021426;22046413;22544926;22569126;22922743;23186163;23481700;24173023;24275569;24397554;2449431;24662292;24714562;24715725;24807418;24979766;25030448;25170678;25418920;25576301;25645385;25880248;25892735;25936802;26030138;26086376;26154972;26210183;26216882;26344566;26350214;26375851;26659056;26711259;26728094;26758079;26992070;27569044;27597759;27600516;27661449;27798111;27832191;27846572;27862975;28764923;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29769354;30315122;30410026;30429286;30550790;30833945;31217245;31844290;31848261;31867016;32152943;32157095;32350084;32357974;32387766;32432721;32488085;32502341;32778820;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34509645;34561969;34932366;35016493;35051231;35137163;35154160;35251023;35318648;35499524;35580925;36010968;36215666;36241641;36284347;36383652;37938771;38218188;40914422;7660122;7660129;7660130;8370526;8625414;8991089;9450929;9489704", "class_list": "", "function": "CTR9 drives osteochondral lineage differentiation of human mesenchymal stem cells via epigenetic regulation of BMP-2 signaling., [RefSeq, PubMed]; Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both independently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Required for mono- and trimethylation on histone H3 'Lys-4' (H3K4me3) and dimethylation on histone H3 'Lys-79' (H3K4me3). Required for Hox gene transcription. Required for the trimethylation of histone H3 'Lys-4' (H3K4me3) on genes involved in stem cell pluripotency; this function is synergistic with CXXC1 indicative for an involvement of the SET1 complex. Involved in transcriptional regulation of IL6-responsive genes and in JAK-STAT pathway; may regulate DNA-association of STAT3 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder., [RefSeq, PubMed]; Inherited blood cancer predisposition through altered transcription elongation., [RefSeq, PubMed]; MicroRNA-17-3p is upregulated in psoriasis and regulates keratinocyte hyperproliferation and pro-inflammatory cytokine secretion by targeting CTR9. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a component of the PAF1 complex, which associates with RNA polymerase II and functions in transcriptional regulation and elongation. This complex also plays a role in the modification of histones. [provided by RefSeq, Oct 2016]., [RefSeq]; The transcriptional elongation factor CTR9 demarcates PRC2-mediated H3K27me3 domains by altering PRC2 subtype equilibrium., [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": 30, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DQV8;Q15015", "ec_number_list": "", "go_molecular_function": "GO:0042169 SH2 domain binding;GO:0000993 RNA polymerase II complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0000791 euchromatin;GO:0016593 Cdc73/Paf1 complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0071222 cellular response to lipopolysaccharide;GO:0016055 Wnt signaling pathway;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 18.5, "record_id": "Q6PD62-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96RU3-1", "uniprot_id": "FNBP1_HUMAN", "mass": 71307.0, "length": 617, "protein_name": "Formin-binding protein 1", "gene_name": "FNBP1", "organism": "Human", "refseq_name": "formin-binding protein 1 isoform 1", "refseq_ac": "NP_055848", "gene_names_uniprotkb": "FNBP1; FBP17; KIAA0554", "gene_names_refseq": "FBP17; FNBP1", "protein_names_uniprotkb": "Formin-binding protein 1; Formin-binding protein 17; hFBP17", "protein_names_refseq": "formin-binding protein 1 isoform 1; formin-binding protein 17", "tax_id": 9606, "disease": "", "pathway": " (hsa:23048); (R-HSA-8856828); (R-HSA-9013148); (R-HSA-9013406); (R-HSA-9013409); (R-HSA-9696270)", "pathway_count": 6, "publication_count": 430, "publication_id_list": "10232922;10464238;10490598;10523665;10523675;10526156;10535736;10542231;10559246;10559856;10559861;10559924;10579713;10625686;10664463;10699171;10699464;10724160;10766823;10873802;10967094;11007481;11058585;11082044;11085924;11149925;11185749;11231140;11237011;11239472;11306516;11373293;11396949;11431473;11432776;11438682;11470803;11516654;11517213;11532990;11577110;11584276;11606631;11672528;11696321;11704860;11756552;11773441;11804587;11804589;11804590;11877457;11877461;11884391;11889126;11912491;11940653;11948177;12023017;12057195;12071859;12093360;12096337;12172552;12195014;12213833;12221096;12242347;12244061;12351724;12432077;12447393;12456725;12464619;12531887;12547822;12650940;12736724;12773384;12842009;12847086;12857875;12860998;12877655;12907671;12952949;14506234;14512443;14555962;14581451;14596906;14617351;14622578;14622579;14732713;15023524;15047863;15064355;15104674;15107133;15133129;15144186;15147912;15157669;15252009;15260957;15260990;15302923;15302935;15304341;15318165;15339664;15342493;15485661;15502812;15502813;15546864;15592455;15601624;15611138;15649145;15703209;15710388;15728722;15738000;15802264;15850391;15895077;15897194;15916959;16103228;16112081;16116428;16184169;16215232;16217026;16318909;16326391;16410077;16418535;16481321;16516836;16519628;16630611;16707488;16714282;16777452;16777849;16798879;16862148;16880396;16896804;16903783;16964243;16968698;17018281;17035995;17064668;17077126;17145773;17158794;17196961;17214551;17244649;17287340;17494869;17512409;17540576;17599059;17609109;17681954;17702745;17762867;17765681;17804252;17932950;17976533;17978091;18045877;18056264;18093523;18218625;18363964;18388313;18426980;1847920;18653540;18669648;18707149;18786931;18790740;18835169;18838382;18929667;18981233;18996843;19092055;19136556;19258391;19287005;19296720;19367720;19413330;19458185;19536138;19575674;19603039;19605563;19608861;19651622;19664995;19690332;19696796;19713215;19713939;19776351;19809571;19934221;20033059;20059951;20068231;20112406;20166139;20211604;20231386;20428113;20448150;20679435;20811643;20826345;20946875;21148482;2115402;21187331;21278753;21316588;21406692;21445324;21454492;21482805;21499258;21542010;21565175;21613211;21613550;21685891;21779028;21841790;21865595;21883765;21927000;21927001;21962517;21989057;22004470;22096251;22099461;22233676;22298643;22424782;22461490;22484487;22505844;22544926;22571869;22608513;22815487;22863004;22970203;22971344;23029280;23186163;23200924;23255595;23297414;23406282;23434736;23536704;23572525;23718289;23823722;23861397;23891661;24086303;24130457;24186068;24259668;24275569;24297911;24335996;24352656;24355937;24366607;24581490;24584464;24690281;24714562;24715725;24789820;24933155;24966051;24996924;25024229;25107275;25211221;25303366;25341920;25576301;25678704;25704760;25721503;25795300;25802875;25862245;25888806;25963737;26042225;26129894;26154972;26299518;26403691;26529257;26598554;26811146;26887924;26969432;26992070;27096001;27145964;27216196;27481945;27555588;27798618;27846572;28028151;28196833;28825699;28860633;28904123;29437277;29493099;29557506;30061681;30410026;30853411;31217245;31844290;31862885;31871319;32157095;32203420;32302585;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34185709;34211107;34357683;34509645;34561969;34932366;34998385;35051231;35134126;35580925;36010968;36215666;36284347;37340703;37566043;37938771;38945423;40914422;6146630;7479768;7512369;7673236;7721814;7753201;7877694;8021274;8524399;8537347;8552632;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8994827;9013646;9092476;9100026;9113980;9268338;9305890;9405671;9427626;9428629;9438849;9490638;9497316;9635431;9659915;9670022;9736607;9829970;9843499;9846874;9857026", "class_list": "", "function": "FNBP1 Facilitates Cervical Cancer Cell Survival by the Constitutive Activation of FAK/PI3K/AKT/mTOR Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; FNBP1 family proteins (FNBP1 and TRIP10) consist of FCH, FBH and SH3 domains., [RefSeq, PubMed]; Formin Binding Protein 1 (FNBP1) regulates non-canonical Wnt signaling and vertebrate gastrulation., [RefSeq, PubMed]; May act as a link between RND2 signaling and regulation of the actin cytoskeleton (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during the late stage of clathrin-mediated endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also enhances actin polymerization via the recruitment of WASL/N-WASP, which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. May be required for the lysosomal retention of FASLG/FASL., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Membrane tension sensing molecule-FNBP1 is a prognostic biomarker related to immune infiltration in BRCA, LUAD and STAD. Publication Status: Online-Only, [RefSeq, PubMed]; Rat rapostlin protein has 93% aa identity to human FBP17., [RefSeq, PubMed]; The protein encoded by this gene is a member of the formin-binding-protein family. The protein contains an N-terminal Fer/Cdc42-interacting protein 4 (CIP4) homology (FCH) domain followed by a coiled-coil domain, a proline-rich motif, a second coiled-coil domain, a Rho family protein-binding domain (RBD), and a C-terminal SH3 domain. This protein binds sorting nexin 2 (SNX2), tankyrase (TNKS), and dynamin; an interaction between this protein and formin has not been demonstrated yet in human. [provided by RefSeq, Jul 2008]., [RefSeq]; Wild-type p53 suppresses formin-binding protein-17 (FBP17) to reduce 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": 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": 15, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 15, "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": "B7ZL12;E9PGQ4;O60301;Q3MIN8;Q5TC87;Q5TC88;Q6P658;Q7LGG2;Q9H8H8;Q9NWD1", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0005938 cell cortex", "go_biological_process": "GO:0006897 endocytosis;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 43.4, "record_id": "Q96RU3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NZQ7-1", "uniprot_id": "PD1L1_HUMAN", "mass": 33275.0, "length": 290, "protein_name": "Programmed cell death 1 ligand 1", "gene_name": "CD274", "organism": "Human", "refseq_name": "programmed cell death 1 ligand 1 isoform b precursor", "refseq_ac": "NP_001254635", "gene_names_uniprotkb": "CD274; B7H1; PDCD1L1; PDCD1LG1; PDL1", "gene_names_refseq": "ADMIO5; B7-H; B7H1; CD274; PD-L1; PDCD1L1; PDCD1LG1; PDL1; hPD-L1", "protein_names_uniprotkb": "Programmed cell death 1 ligand 1; B7 homolog 1; B7-H1; PD-L1; PDCD1 ligand 1; Programmed death ligand 1; hPD-L1", "protein_names_refseq": "B7 homolog 1; CD274 antigen; PDCD1 ligand 1; programmed cell death 1 ligand 1 isoform b precursor; programmed cell death 1 ligand 1", "tax_id": 9606, "disease": "adult T-cell leukemia/lymphoma (Disease Ontology:DOID:0050523); infantile onset multisystem autoimmune disease 5 (Disease Ontology:DOID:0061164); Cryptococcal meningitis (Disease Ontology:DOID:0080159); nasal type extranodal NK/T-cell lymphoma (Disease Ontology:DOID:0080797); stomach cancer (Disease Ontology:DOID:10534); pre-eclampsia (Disease Ontology:DOID:10591); Human papillomavirus infectious disease (Disease Ontology:DOID:11166); toxic shock syndrome (Disease Ontology:DOID:14115); hepatitis C (Disease Ontology:DOID:1883); pulmonary tuberculosis (Disease Ontology:DOID:2957); tuberculosis (Disease Ontology:DOID:399); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); hepatocellular carcinoma (Disease Ontology:DOID:684); periodontitis (Disease Ontology:DOID:824); influenza (Disease Ontology:DOID:8469); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991)", "pathway": " (hsa:29126); (R-HSA-389948); (R-HSA-9701898); (R-HSA-9909620); (R-HSA-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9931295)", "pathway_count": 8, "publication_count": 91, "publication_id_list": "10.1101/2023.09.13.557529;10581077;11015443;12091876;12244148;12468426;12538684;12893276;12947224;15358536;15653507;15780196;18173375;18287011;18759926;19088198;19159218;20126379;21102525;21154117;21715655;23302904;24004669;24190977;25115512;25193384;25502872;26602187;27281199;27572267;27879258;28165004;28218747;28228285;28265006;28467828;28514659;28546465;28813410;28813417;28832583;29097600;29242379;29508533;29632046;29765039;29863979;30118680;30315122;30410026;30522017;30564891;30692217;30728908;30925913;31217245;31305264;31313098;31399419;31558782;31653140;31844290;31981446;32350084;32363124;32871472;32929201;32983136;33043033;33109704;33298915;33324209;33797012;33879767;33912179;33936100;34183449;34315872;34357683;34561969;34932366;35051231;35154160;35385574;36198437;36580234;36719382;36727298;37074911;39353912;40346531", "class_list": "", "function": "B7-H1 is inducible on human endothelial cells by IFN-gamma both in vitro and in vivo; blocking its interaction with its receptor (PD-1) on T cells augments T cell cytokine synthesis., [RefSeq, PubMed]; Blockade of PD-L1 during T cell responses initiated by allogenic dendritic cells increases T cell proliferation and cytokine production, showing that PD-L1 functions to inhibit T cell activation., [RefSeq, PubMed]; Cancer cell-associated B7-H1 increases apoptosis of antigen-specific human T-cell clones in vitro Erratum:[Nat Med 2002 Sep;8(9):1039], [RefSeq, PubMed]; Human Tregs can promote immune suppression via DC modulation through PD-L1 up-regulation. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a critical role in induction and maintenance of immune tolerance to self (PubMed:11015443, PubMed:28813410, PubMed:28813417, PubMed:31399419). As a ligand for the inhibitory receptor PDCD1/PD-1, modulates the activation threshold of T-cells and limits T-cell effector response (PubMed:11015443, PubMed:28813410, PubMed:28813417, PubMed:36727298). Through a yet unknown activating receptor, may costimulate T-cell subsets that predominantly produce interleukin-10 (IL10) (PubMed:10581077). Can also act as a transcription coactivator: in response to hypoxia, translocates into the nucleus via its interaction with phosphorylated STAT3 and promotes transcription of GSDMC, leading to pyroptosis (PubMed:32929201)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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:28813410, PubMed:28813417). The interaction with PDCD1/PD-1 inhibits cytotoxic T lymphocytes (CTLs) effector function (By similarity). 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 (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; This gene encodes an immune inhibitory receptor ligand that is expressed by hematopoietic and non-hematopoietic cells, such as T cells and B cells and various types of tumor cells. The encoded protein is a type I transmembrane protein that has immunoglobulin V-like and C-like domains. Interaction of this ligand with its receptor inhibits T-cell activation and cytokine production. During infection or inflammation of normal tissue, this interaction is important for preventing autoimmunity by maintaining homeostasis of the immune response. In tumor microenvironments, this interaction provides an immune escape for tumor cells through cytotoxic T-cell inactivation. Expression of this gene in tumor cells is considered to be prognostic in many types of human malignancies, including colon cancer and renal cell carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]., [RefSeq]; Up-regulation in HIV infection, relation to disease progression, and possible role in AIDS progression, [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": 4, "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": 1, "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": 8, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 58, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "prognostic; ", "glycan_count": 1, "disease_count": 16, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RBA2;B4DU27;Q14CJ2;Q2V8D5;Q66RK1;Q6WEX4;Q9NUZ5", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016607 nuclear speck", "go_biological_process": "GO:0032693 negative regulation of interleukin-10 production;GO:0006955 immune response;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0031295 T cell costimulation", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q9NZQ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UL25-1", "uniprot_id": "RAB21_HUMAN", "mass": 24348.0, "length": 225, "protein_name": "Ras-related protein Rab-21", "gene_name": "RAB21", "organism": "Human", "refseq_name": "ras-related protein Rab-21", "refseq_ac": "NP_055814", "gene_names_uniprotkb": "RAB21; KIAA0118", "gene_names_refseq": "RAB21", "protein_names_uniprotkb": "Ras-related protein Rab-21; 3.6.5.2", "protein_names_refseq": "GTP-binding protein RAB21; ras-related protein Rab-21", "tax_id": 9606, "disease": "", "pathway": " (hsa:23011); (R-HSA-8873719); (R-HSA-8876198)", "pathway_count": 3, "publication_count": 259, "publication_id_list": "10818110;10887961;10990452;11038176;11141079;11179213;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;16034420;16207721;16373702;16401880;16410077;1648736;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17114793;17132146;17189207;17208202;17239822;17287728;17411337;17450153;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18354496;18367545;1845915;18477474;18532927;18559336;18585354;18664496;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19603039;19620288;19656848;19725050;19729655;19745841;20008558;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22694141;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23301498;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23481700;23645161;23678941;23684622;23713133;23839779;24023390;24296415;24644286;24694596;24714562;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25418920;25472813;25502872;25505266;25648148;25713415;25892735;25925668;26055712;26177209;26245486;26375851;26434594;26538022;26728094;26925400;26936971;26969162;26992070;27041585;27044746;27103185;27246931;27329675;27846572;27862975;28467828;28649982;28832583;28834231;28904123;29242379;29314611;29393594;29508533;29557506;29632711;30429286;30626607;30833945;31020640;31154438;31217245;31455601;31844290;31848261;32157095;32350084;32502341;32897882;32938616;32983136;33592498;33912179;33968037;34087483;34357683;34725712;34932366;35154160;35163051;35220907;35251023;35580925;35993307;36241641;37369821;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": "Circular RNA Circ_0008043 promotes the proliferation and metastasis of hepatocellular carcinoma cells by regulating the microRNA (miR)-326/RAB21 axis., [RefSeq, PubMed]; RAB21 controls autophagy and cellular energy homeostasis by regulating retromer-mediated recycling of SLC2A1/GLUT1., [RefSeq, PubMed]; Rab21 Protein Is Degraded by Both the Ubiquitin-Proteasome Pathway and the Autophagy-Lysosome Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The Regulatory Mechanism of Rab21 in Human Diseases. Review article, [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 (PubMed:18804435, PubMed:25648148, PubMed:31455601). RAB21 is involved in membrane trafficking control (PubMed:18804435, PubMed:25648148). During the mitosis of adherent cells, controls the endosomal trafficking of integrins which is required for the successful completion of cytokinesis (PubMed:18804435). Regulates integrin internalization and recycling, but does not influence the traffic of endosomally translocated receptors in general (By similarity). As a result, may regulate cell adhesion and migration (By similarity). Involved in neurite growth (By similarity). Following SBF2/MTMT13-mediated activation in response to starvation-induced autophagy, binds to and regulates SNARE protein VAMP8 endolysosomal transport required for SNARE-mediated autophagosome-lysosome fusion (PubMed:25648148). Modulates protein levels of the cargo receptors TMED2 and TMED10, and required for appropriate Golgi localization of TMED10 (PubMed:31455601)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; This gene belongs to the Rab family of monomeric GTPases, which are involved in the control of cellular membrane traffic. The encoded protein plays a role in the targeted trafficking of integrins via its association with integrin alpha tails. As a consequence, the encoded protein is involved in the regulation of cell adhesion and migration. Expression of this gene is associated with a poor prognosis for glioma patients. This gene is downregulated by the tumor suppressor miR-200b, and miRNA-200b is itself downregulated in glioma tissues. [provided by RefSeq, Nov 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": 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": "Q14466;Q569H3", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;3.6.1.-;2.5.1.60;3.6.5.4;2.7.11.1;3.6.-.-;3.6.1.15;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019003 GDP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005768 endosome;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0050821 protein stabilization;GO:0030516 regulation of axon extension;GO:0008089 anterograde axonal transport;GO:0050775 positive regulation of dendrite morphogenesis", "synthesized_glycan_count": 0, "hit_score": 26.2, "record_id": "Q9UL25-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IWL2-1", "uniprot_id": "SFTA1_HUMAN", "mass": 26242.0, "length": 248, "protein_name": "Pulmonary surfactant-associated protein A1", "gene_name": "SFTPA1", "organism": "Human", "refseq_name": "pulmonary surfactant-associated protein A1 isoform 2 precursor", "refseq_ac": "NP_001087239", "gene_names_uniprotkb": "SFTPA1; COLEC4; PSAP; SFTP1; SFTPA1B; SFTPA", "gene_names_refseq": "COLEC4; ILD1; PSP-A; PSPA; SFTP1; SFTPA1B; SFTPA1; SP-A1 beta; SP-A1 delta; SP-A1 epsilon; SP-A1 gamma; SP-A1; SP-A; SPA1; SPA", "protein_names_uniprotkb": "Pulmonary surfactant-associated protein A1; 35 kDa pulmonary surfactant-associated protein; Alveolar proteinosis protein; Collectin-4; PSP-A; PSPA; SP-A1; SP-A", "protein_names_refseq": "35 kDa pulmonary surfactant-associated protein; alveolar proteinosis protein; collectin-4; pulmonary surfactant-associated protein A1 isoform 2 precursor; surfactant protein A1B; surfactant, pulmonary-associated protein A1A; surfactant, pulmonary-associated protein A1B", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); interstitial lung disease 1 (Disease Ontology:DOID:0060941); adult respiratory distress syndrome (Disease Ontology:DOID:11394); pulmonary edema (Disease Ontology:DOID:11396); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); pulmonary alveolar proteinosis (Disease Ontology:DOID:12120); newborn respiratory distress syndrome (Disease Ontology:DOID:12716); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); pulmonary sarcoidosis (Disease Ontology:DOID:13406); cystic fibrosis (Disease Ontology:DOID:1485); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); pulmonary fibrosis (Disease Ontology:DOID:3770); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); pneumonia (Disease Ontology:DOID:552); extrinsic allergic alveolitis (Disease Ontology:DOID:841); lung disease (Disease Ontology:DOID:850); bacterial pneumonia (Disease Ontology:DOID:874); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:653509); (R-HSA-166016); (R-HSA-168179); (R-HSA-391160); (R-HSA-5683826); (R-HSA-5686938); (R-HSA-5688849); (R-HSA-5688890)", "pathway_count": 8, "publication_count": 149, "publication_id_list": "10201950;10368295;10426996;10469599;10485905;10496952;10572074;10580105;10625644;10762543;11237011;11274165;11278984;11509636;11563989;11724772;12023008;12110890;12185598;12214235;12471095;12817025;12882447;1325798;1339284;13680361;1372511;1415726;14531999;14556004;14702039;15164054;15241424;15276183;15294972;15383453;15489334;15596121;1568474;15714590;1577827;15845487;15926889;16006481;16199866;16213021;16303959;1636732;16423266;16455995;16467847;16630564;16751103;16754682;16757566;16834340;16855214;16878026;16880211;17070842;17158455;17369261;17496061;17767165;18020944;18222170;18233961;18297073;18354232;18559343;18657508;18692472;18955570;1898081;18990700;19100526;19112167;19144824;1928448;1935736;19628875;19824815;1986781;20037584;20054143;20147294;20338813;20418254;20473308;20693318;21075760;21123169;21203928;21205713;21871094;22078883;22158869;22344226;22489132;22884059;23069847;23446148;23590306;23684610;23922714;2462607;24743970;2477488;24806461;24833748;25139904;2515193;25424900;25825441;2587265;25880347;2610270;26792177;27742543;2884868;2995821;3037072;30854216;31601679;31608988;32855221;33141765;3366248;34484180;34631;3537192;3755136;3801783;38244369;38375572;38596675;40596516;7597036;7685021;7977768;8314870;8428971;8522976;8527267;8636114;9062191;9665271;9813380;9813381", "class_list": "glycogene", "function": "(Microbial infection) Binds M.pneumoniae CARDS toxin, serves as one receptor for this pathogen (PubMed:15845487, PubMed:25139904). When SFTPA1 is down-regulated by siRNA, less toxin binds to human cells and less vacuolization (a symptom of M.pneumoniae infection) is seen (PubMed:25139904)., [UniProtKB, PubMed, PubMed]; (Microbial infection) Recognition of M.tuberculosis by dendritic cells may occur partially via this molecule (PubMed:17158455, PubMed:21203928). Can recognize, bind, and opsonize pathogens to enhance their elimination by alveolar macrophages (PubMed:21123169)., [UniProtKB, PubMed, PubMed, PubMed]; Human surfactant protein A inhibits SARS-CoV-2 infectivity and alleviates lung injury in a mouse infection model. Publication Status: Online-Only, [RefSeq, PubMed]; Immunoregulatory function of SP-A. Review article, [RefSeq, PubMed]; In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration. Enhances the expression of MYO18A/SP-R210 on alveolar macrophages (By similarity)., [UniProtKB, UniProtKB]; Multivalent, calcium-independent binding of surfactant protein A and D to sulfated glycosaminoglycans of the alveolar epithelial glycocalyx., [RefSeq, PubMed]; This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorganisms. This protein plays an essential role in surfactant homeostasis and in the defense against respiratory pathogens. Mutations in this gene are associated with idiopathic pulmonary fibrosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 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": 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": 349, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 21, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K3T8;B7ZW50;E3VLD8;E3VLD9;E3VLE0;E3VLE1;G5E9J3;P07714;Q14DV4;Q5RIR5;Q5RIR7;Q6PIT0;Q8TC19", "ec_number_list": "", "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005789 endoplasmic reticulum membrane;GO:0045334 clathrin-coated endocytic vesicle;GO:0005771 multivesicular body", "go_biological_process": "GO:0007585 respiratory gaseous exchange by respiratory system;GO:0008228 opsonization", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "Q8IWL2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7L3B6-1", "uniprot_id": "CD37L_HUMAN", "mass": 38835.0, "length": 337, "protein_name": "Hsp90 co-chaperone Cdc37-like 1", "gene_name": "CDC37L1", "organism": "Human", "refseq_name": "hsp90 co-chaperone Cdc37-like 1", "refseq_ac": "NP_060383", "gene_names_uniprotkb": "CDC37L1; CDC37B; HARC", "gene_names_refseq": "CDC37B; CDC37L1; HARC", "protein_names_uniprotkb": "Hsp90 co-chaperone Cdc37-like 1; Hsp90-associating relative of Cdc37", "protein_names_refseq": "CDC37 cell division cycle 37 homolog-like 1; Hsp90-associating relative of Cdc37; cell division cycle 37 like 1; hsp90 co-chaperone Cdc37-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55664); (R-HSA-114608)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "11237011;11413142;1435334;14630798;15297306;15850399;18052042;18669648;19664994;19690332;23186163;23301498;23481700;23640497;25576301;26992070;28218747;28834231;30429286;31092671;31154438;31844290;31848261;32161166;32897882;32938616;33298915;34171305;34185709;34405274;35580925;36010968;6457647;8467233", "class_list": "", "function": "C-terminal domain of Harc is a key determinant of its cochaperone functions, [RefSeq, PubMed]; CDC37L1 is a cytoplasmic phosphoprotein that exists in complex with HSP90 (HSPCA; MIM 140571) as well as several other proteins involved in HSP90-mediated protein folding (Scholz et al., 2001 [PubMed 11413142]).[supplied by OMIM, Mar 2008]., [RefSeq]; Co-chaperone that binds to numerous proteins and promotes their interaction with Hsp70 and Hsp90., [UniProtKB, UniProtKB, UniProtKB]; Harc forms dimers in vitro. The structural similarities between Harc and Cdc37 suggest that Harc may function to regulate the Hsp90-mediated folding of Cdc37-dependent protein kinases into functional conformations via dimerization with Cdc37., [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": "B1AL70;Q9NWS3;Q9NX16", "ec_number_list": "", "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0051087 protein-folding chaperone binding;GO:0031072 heat shock protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031089 platelet dense granule lumen", "go_biological_process": "GO:0050821 protein stabilization;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q7L3B6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IY42-1", "uniprot_id": "PGKA1_HUMAN", "mass": 33742.0, "length": 314, "protein_name": "PDCD10 and GCKIII kinases-associated protein 1", "gene_name": "PGCKA1", "organism": "Human", "refseq_name": "PDCD10 and GCKIII kinases-associated protein 1", "refseq_ac": "NP_001098099", "gene_names_uniprotkb": "PGCKA1; C4orf19", "gene_names_refseq": "C4orf19; PGCKA1", "protein_names_uniprotkb": "PDCD10 and GCKIII kinases-associated protein 1", "protein_names_refseq": "PDCD10 and GCKIII kinases-associated protein 1; uncharacterized protein C4orf19", "tax_id": 9606, "disease": "", "pathway": " (hsa:55286)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;24275569;30620550;31154438;36882524;38517886;39894887", "class_list": "", "function": "Acts as a tumor suppressor (PubMed:36882524, PubMed:38517886). Acts as a tumor suppressor for colorectal cancer cell proliferation by targeting KEAP1/USP17/ELK1/CDK6 axis (PubMed:36882524)., [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": 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": 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": "Q9NV03", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0071944 cell periphery", "go_biological_process": "GO:0051726 regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8IY42-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96FF9-1", "uniprot_id": "CDCA5_HUMAN", "mass": 27601.0, "length": 252, "protein_name": "Sororin", "gene_name": "CDCA5", "organism": "Human", "refseq_name": "sororin isoform 1", "refseq_ac": "NP_542399", "gene_names_uniprotkb": "CDCA5", "gene_names_refseq": "CDCA5; SORORIN", "protein_names_uniprotkb": "Sororin; Cell division cycle-associated protein 5; p35", "protein_names_refseq": "cell division cycle-associated protein 5; p35; sororin isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:113130); (R-HSA-2467813); (R-HSA-2468052); (R-HSA-2500257)", "pathway_count": 4, "publication_count": 87, "publication_id_list": "10411507;11081627;11237011;11371342;11509732;12188893;12194817;14730319;15339662;15723797;15737063;15821733;15837422;15958495;16541025;16682347;16964243;17081983;17112726;17113138;17349791;18097444;18212344;18220336;18411254;18614053;18669648;18716626;19413330;19664995;19690332;19691289;19696148;19965387;20068231;20551060;21111234;21406692;21878504;21987589;22101327;22885700;23186163;24714562;25576301;26177583;26992070;27600516;27846572;27920218;28228285;28411811;28832583;28834231;28904123;29242379;29493099;29786170;30192525;30524438;30784271;30833945;31154438;31530632;31844290;31848261;32157095;32161166;32488085;32897882;33141586;33298915;33936100;33968037;34260926;34561969;34932366;35051231;35580925;36004470;37247719;38539247;38978058;41261216;8291532;9649503;9892021", "class_list": "", "function": "CDCA5 accelerates progression of breast cancer by promoting the binding of E2F1 and FOXM1. Publication Status: Online-Only, [RefSeq, PubMed]; CDCA5 promoted cell invasion and migration by activating TGF-beta1 pathway in human ovarian cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; CDCA5 promotes the progression of breast cancer and serves as a potential prognostic biomarker., [RefSeq, PubMed]; Data indicate that sororin interacts with chromatin-bound cohesin and functions during the establishment or maintenance of cohesion in S or G2 phase, respectively, [RefSeq, PubMed]; KLF5-mediated CDCA5 expression promotes tumor development and progression of epithelial ovarian carcinoma., [RefSeq, PubMed]; Regulator of sister chromatid cohesion in mitosis, stabilizing cohesin complex association with chromatin. May antagonize the action of WAPL which stimulates cohesin dissociation from chromatin. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair. Required for efficient DNA double-stranded break repair., [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": 27, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K625", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000775 chromosome, centromeric region", "go_biological_process": "GO:0051301 cell division;GO:0006302 double-strand break repair;GO:0007064 mitotic sister chromatid cohesion", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q96FF9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92772-1", "uniprot_id": "CDKL2_HUMAN", "mass": 56019.0, "length": 493, "protein_name": "Cyclin-dependent kinase-like 2", "gene_name": "CDKL2", "organism": "Human", "refseq_name": "cyclin-dependent kinase-like 2 isoform 2", "refseq_ac": "NP_001317653", "gene_names_uniprotkb": "CDKL2", "gene_names_refseq": "CDKL2; KKIAMRE; P56", "protein_names_uniprotkb": "Cyclin-dependent kinase-like 2; 2.7.11.22; Protein kinase p56 KKIAMRE; Serine/threonine-protein kinase KKIAMRE", "protein_names_refseq": "CDC2-related kinase; cyclin-dependent kinase-like 2 isoform 2; p56 KKIAMRE protein kinase; protein kinase p56 KKIAMRE; serine/threonine protein kinase KKIAMRE; testicular tissue protein Li 35", "tax_id": 9606, "disease": "", "pathway": " (hsa:8999)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;16631599;17344846;18452278;24714562;29420175;29557506;30953292;32157095;32173142;33110456;33178818;35051231;35580925;9000130", "class_list": "", "function": "CDKL2 Is Associated with HER2 Status and Overall Survival in Gastric Cancer: Comparative Analysis of CDKL2 Protein Expression and Gene Copy Number. Publication Status: Online-Only, [RefSeq, PubMed]; Decreased CDKL2 expression is correlated with the progression and poor prognosis of glioma., [RefSeq, PubMed]; Identification of a Set of Genes Improving Survival Prediction in Kidney Renal Clear Cell Carcinoma through Integrative Reanalysis of Transcriptomic Data. Publication Status: Online-Only, [RefSeq, PubMed]; In HeLa cells infected with HSV-2, we detected significantly reduced expression of CDKN2A and CDKL2 and demonstrated the negative regulation effect of miRNA-H4-5p on these two target genes., [RefSeq, PubMed]; This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the cytoplasm, with lower levels in the nucleus. [provided by RefSeq, Jul 2008]., [RefSeq]; We hypothesized that LA might induce dissociation of p56(Lck) from CD4, thus leading to its downmodulation., [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": "B2R695", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0004693 cyclin-dependent protein serine/threonine kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0007548 sex differentiation", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q92772-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VXM1-3", "uniprot_id": "CDCP2_HUMAN", "mass": 59057.0, "length": 540, "protein_name": "CUB domain-containing protein 2", "gene_name": "CDCP2", "organism": "Human", "refseq_name": "CUB domain-containing protein 2 isoform 2 precursor", "refseq_ac": "NP_963840", "gene_names_uniprotkb": "CDCP2", "gene_names_refseq": "CDCP2", "protein_names_uniprotkb": "CUB domain-containing protein 2", "protein_names_refseq": "CUB domain-containing protein 2 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:200008)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "17388942", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 5, "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": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A0A1B0GU47;Q6ZWJ3", "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": "Q5VXM1-3", "record_type": "protein" }, { "uniprot_canonical_ac": "Q69YH5-1", "uniprot_id": "CDCA2_HUMAN", "mass": 112676.0, "length": 1023, "protein_name": "Cell division cycle-associated protein 2", "gene_name": "CDCA2", "organism": "Human", "refseq_name": "cell division cycle-associated protein 2 isoform 2", "refseq_ac": "NP_001304835", "gene_names_uniprotkb": "CDCA2", "gene_names_refseq": "CDCA2; PPP1R81; Repo-Man", "protein_names_uniprotkb": "Cell division cycle-associated protein 2; Recruits PP1 onto mitotic chromatin at anaphase protein; Repo-Man", "protein_names_refseq": "cell division cycle-associated protein 2 isoform 2; cell division cycle-associated protein 2; protein phosphatase 1, regulatory subunit 81; recruits PP1 onto mitotic chromatin at anaphase protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:157313)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "11237011;12188893;16492807;16565220;16998479;17081983;17924679;18452278;18669648;19007248;19651622;19690332;19691289;20068231;20188555;21406692;21514157;21820363;23186163;23301498;23481700;23746640;24366607;24714562;24715725;25576301;26154972;26992070;27543614;27600516;27920218;28228285;28832583;28834231;28904123;29242379;29393594;29508533;29557506;29632046;31844290;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34509645;34932366;35580925;36010968;36241641;36588796;37083601;37196484;37733705;39288736", "class_list": "", "function": "A pan-cancer analysis reveals the diagnostic and prognostic role of CDCA2 in low-grade glioma. Publication Status: Online-Only, [RefSeq, PubMed]; CDCA2 Promotes HCC Cells Development via AKT-mTOR Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; CDCA2 promotes melanoma progression by inhibiting ubiquitin-mediated degradation of Aurora kinase A., [RefSeq, PubMed]; PPP1R81 correlates with the survival and cell proliferation in lower-grade glioma., [RefSeq, PubMed]; Regulator of chromosome structure during mitosis required for condensin-depleted chromosomes to retain their compact architecture through anaphase. Acts by mediating the recruitment of phosphatase PP1-gamma subunit (PPP1CC) to chromatin at anaphase and into the following interphase. At anaphase onset, its association with chromatin targets a pool of PPP1CC to dephosphorylate substrates., [UniProtKB, PubMed, PubMed]; Repo-Man forms an essential complex with protein phosphatase 1 (PP1) gamma and is required for the recruitment of PP1 to chromatin, [RefSeq, PubMed]; Repo-Man promotes H3T11ph dephosphorylation by an indirect mechanism but directly and specifically targets H3T3ph for dephosphorylation by associated PP1gamma., [RefSeq, PubMed]; The Role of CDCA2 in tumor genesis, prognosis and future treatments. Review article, [RefSeq, PubMed]; This gene encodes a targeting subunit of the cell-cycle associated protein, protein phosphatase 1, with a role in targeting this protein to chromatin during anaphase. These two proteins comprise a phosphatase complex that is involved in nuclear envelope reformation and regulation of the DNA damage response. The encoded protein may also play a role in cancer progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]; This study reports essential DNA damage response regulation mediated by Repo-Man-protein phosphatase 1 and further delineate underlying mechanisms., [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": 29, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 38, "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": "Q3SX74;Q4G0W0;Q5RKN0;Q69YI4;Q6P464;Q8N7C1", "ec_number_list": "", "go_molecular_function": "GO:0019888 protein phosphatase regulator activity;GO:0140693 molecular condensate scaffold activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000793 condensed chromosome;GO:0005694 chromosome", "go_biological_process": "GO:0007059 chromosome segregation;GO:0051301 cell division;GO:0007088 regulation of mitotic nuclear division;GO:0051321 meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q69YH5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6DHV5-5", "uniprot_id": "C2D2B_HUMAN", "mass": 166787.0, "length": 1437, "protein_name": "Protein CC2D2B", "gene_name": "CC2D2B", "organism": "Human", "refseq_name": "protein CC2D2B isoform 2", "refseq_ac": "NP_001001732", "gene_names_uniprotkb": "CC2D2B; C10orf130; C10orf131", "gene_names_refseq": "C10orf130; C10orf131; CC2D2B", "protein_names_uniprotkb": "Protein CC2D2B", "protein_names_refseq": "protein CC2D2B isoform 2; protein CC2D2B; uncharacterized protein C10orf131", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340)", "pathway": " (hsa:387707)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "16385451;31844290;34087483;35051231;36241641;38679185", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The CC2D2B is a novel genetic modifier of the clinical phenotype in patients with hereditary angioedema due to C1 inhibitor 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": 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": "A0A1B0GVB6;A0A2R8Y8B5;A2A3E9;A6NCD4;B1AMZ2;B4DG41;B4DYD4;E9PCC3;Q5VUS0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0035869 ciliary transition zone", "go_biological_process": "GO:1905515 non-motile cilium assembly;GO:1904491 protein localization to ciliary transition zone", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q6DHV5-5", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6IQ19-1", "uniprot_id": "CCSAP_HUMAN", "mass": 30216.0, "length": 270, "protein_name": "Centriole, cilia and spindle-associated protein", "gene_name": "CCSAP", "organism": "Human", "refseq_name": "centriole, cilia and spindle-associated protein isoform 1", "refseq_ac": "NP_660300", "gene_names_uniprotkb": "CCSAP; C1orf96; CSAP", "gene_names_refseq": "C1orf96; CCSAP; CSAP", "protein_names_uniprotkb": "Centriole, cilia and spindle-associated protein", "protein_names_refseq": "centriole and spindle-associated protein; centriole, cilia and spindle-associated protein isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:126731)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "14654843;22493317;24715725;25418920;25576301;25880248;26154972;26562023;27600516;28832583;29242379;30379171;30517872;30779550;31844290;31848261;32157095;32357974;32502341;32983136;33691108;33968037;33981976;35051231;36241641;39894887", "class_list": "", "function": "Binding of CSAP to TTLL5 promotes relocalization of TTLL5 toward microtubules., [RefSeq, PubMed]; Plays a role in microtubule (MT) stabilization and this stabilization involves the maintenance of NUMA1 at the spindle poles. Colocalizes with polyglutamylated MTs to promote MT stabilization and regulate bipolar spindle formation in mitosis. Binding of CCSAP to centrosomes and the spindle around centrosomes during mitosis inhibits MT depolymerization, thereby stabilizing the mitotic spindle (PubMed:26562023). May play a role in embryonic development. May be required for proper cilia beating (By similarity)., [UniProtKB, UniProtKB, PubMed]; The tubulin binding protein CSAP associates with mitotic microtubules around centrosomes to stabilize mitotic microtubules during mitosis, ensuring proper bipolar spindle formation and maintenance. 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K5X2;Q6P9G2;Q6ZW85;Q8IXU1;Q96BM2", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005819 spindle;GO:0005929 cilium;GO:0030424 axon;GO:0005814 centriole", "go_biological_process": "GO:0051301 cell division;GO:1901673 regulation of mitotic spindle assembly;GO:1990755 mitotic spindle microtubule depolymerization;GO:0045995 regulation of embryonic development", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q6IQ19-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6NUI1-1", "uniprot_id": "C144L_HUMAN", "mass": 23810.0, "length": 221, "protein_name": "Putative coiled-coil domain-containing protein 144 N-terminal-like", "gene_name": "CCDC144NL", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "CCDC144NL", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative coiled-coil domain-containing protein 144 N-terminal-like", "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": "Q6NUI1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZSB3-1", "uniprot_id": "CB046_HUMAN", "mass": 15654.0, "length": 139, "protein_name": "Putative uncharacterized protein encoded by LINC00299", "gene_name": "LINC00299", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LINC00299; C2orf46; NCRNA00299", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00299", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q6ZSB3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q76N32-1", "uniprot_id": "CEP68_HUMAN", "mass": 81102.0, "length": 757, "protein_name": "Centrosomal protein of 68 kDa", "gene_name": "CEP68", "organism": "Human", "refseq_name": "centrosomal protein of 68 kDa isoform a", "refseq_ac": "NP_001306029", "gene_names_uniprotkb": "CEP68; KIAA0582", "gene_names_refseq": "CEP68; KIAA0582", "protein_names_uniprotkb": "Centrosomal protein of 68 kDa; Cep68", "protein_names_refseq": "centrosomal protein 68kDa; centrosomal protein of 68 kDa isoform a; centrosomal protein of 68 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:23177)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "10.1101/2023.09.13.557529;11237011;14654843;17570516;18042621;18669648;23186163;23481700;24554434;25503564;25576301;25704143;26154972;26992070;27600516;27862975;27920218;28218747;28228285;28657654;28832583;28834231;29437277;29463719;29493099;29508533;29557506;29632711;30093714;30315122;30379171;30404835;30429286;30779550;30833945;31092671;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32502341;32897882;32938616;33298915;33592498;33633747;33912179;33968037;35051231;35580925;36010968;37938771", "class_list": "", "function": "CEP68 is important in forming rootletin filaments that branch off centrioles and to modulate the thickness of rootletin fibers., [RefSeq, PubMed]; Data suggest that Cep68 cooperates with rootletin and C-Nap1 in centrosome cohesion., [RefSeq, PubMed]; Involved in maintenance of centrosome cohesion, probably as part of a linker structure which prevents centrosome splitting (PubMed:18042621). Required for localization of CDK5RAP2 to the centrosome during interphase (PubMed:24554434, PubMed:25503564). Contributes to CROCC/rootletin filament formation (PubMed:30404835)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Our study is the first to identify and validate Endofin, DCBLD2, and KIAA0582 as part of a complex EGF phosphotyrosine signaling network, [RefSeq, PubMed]; Two intronic variants (rs2241160 and rs2241161) were significantly associated with an increased risk of single-NSAID-induced urticaria/angioedema or anaphylaxis (SNIUAA), suggesting CEP68 to be a key player in both types of Non-steroidal anti-inflammatory drugs hypersensitivity., [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": 3, "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": "B4DRQ1;D6W5F1;D6W5F2;O60326;Q9BQ18;Q9UDM9", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0019904 protein domain specific binding", "go_cellular_component": "GO:0005813 centrosome;GO:0034451 centriolar satellite", "go_biological_process": "GO:0007098 centrosome cycle;GO:0010457 centriole-centriole cohesion", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q76N32-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86X02-1", "uniprot_id": "CDR2L_HUMAN", "mass": 53010.0, "length": 465, "protein_name": "Cerebellar degeneration-related protein 2-like", "gene_name": "CDR2L", "organism": "Human", "refseq_name": "cerebellar degeneration-related protein 2-like", "refseq_ac": "NP_055418", "gene_names_uniprotkb": "CDR2L; HUMPPA", "gene_names_refseq": "CDR2L; HUMPPA", "protein_names_uniprotkb": "Cerebellar degeneration-related protein 2-like; Paraneoplastic 62 kDa antigen", "protein_names_refseq": "cerebellar degeneration-related protein 2-like; paraneoplastic 62 kDa antigen; paraneoplastic antigen", "tax_id": 9606, "disease": "", "pathway": " (hsa:30850)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "18220336;23186163;23301498;28710511;28904123;29242379;29299667;30379171;31844290;32157095;32387766;32938616;33531379;33592498;33968037;34087483;35051231;35580925;36241641;36912432", "class_list": "", "function": "A cerebellar degeneration-related protein 2-like cell-based assay for anti-Yo detection in patients with paraneoplastic cerebellar degeneration., [RefSeq, PubMed]; Both cerebellar degeneration related protein 2 (CDR2) and cerebellar degeneration-related antigen CDR2L (CDR2L) are more widely expressed than previously thought, both in normal and cancerous tissues., [RefSeq, PubMed]; Paraneoplastic Cerebellar Degeneration: The Importance of Including CDR2L as a Diagnostic Marker. Publication Status: Online-Only, [RefSeq, PubMed]; Paraneoplastic cerebellar degenerations with anti-Yo antibodies (Yo-PCD) tumors differed from the 116 control tumors by more abundant T and B cells infiltration occasionally organized in tertiary lymphoid structures harboring CDR2L protein deposits. 65% of Yo-PCD tumors cohort presented at least one somatic mutation in CDR2 and CDR2L with a predominance of missense 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": 3, "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": "B4DFA7;Q15175", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "", "go_biological_process": "GO:0047496 vesicle transport along microtubule;GO:0055107 Golgi to secretory granule transport", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q86X02-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IVL8-1", "uniprot_id": "CBPO_HUMAN", "mass": 42529.0, "length": 374, "protein_name": "Carboxypeptidase O", "gene_name": "CPO", "organism": "Human", "refseq_name": "carboxypeptidase O precursor", "refseq_ac": "NP_775100", "gene_names_uniprotkb": "CPO", "gene_names_refseq": "CPO", "protein_names_uniprotkb": "Carboxypeptidase O; 3.4.17.-; CPO", "protein_names_refseq": "carboxypeptidase O precursor; metallocarboxypeptidase C; metallocarboxypeptidase O", "tax_id": 9606, "disease": "", "pathway": " (hsa:130749)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11836249;16959974;21921028;29557506;29636417;31154438;36284347", "class_list": "", "function": "CPO cleaves acidic amino acids from dietary proteins and peptides, thus complementing the actions of well known digestive carboxypeptidases CPA and CPB., [RefSeq, PubMed]; Carboxypeptidase which preferentially cleaves C-terminal acidic residues from peptides and proteins. Can also cleave C-terminal hydrophobic amino acids, with a preference for small residues over large residues., [UniProtKB, PubMed]; HCPO can also trim C-t extensions of proteins, such as epidermal growth factor, suggesting a role in the maturation and degradation of growth factors and bioactive peptides., [RefSeq, PubMed]; This gene is a member of the metallocarboxypeptidase gene family. [provided by RefSeq, Jan 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": 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": 0, "reported_glycation": 0, "reported_snv": 19, "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": "Q2M277;Q7RTW7", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004181 metallocarboxypeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0016324 apical plasma membrane;GO:0098552 side of membrane", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8IVL8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZL9-1", "uniprot_id": "CDK20_HUMAN", "mass": 38695.0, "length": 346, "protein_name": "Cyclin-dependent kinase 20", "gene_name": "CDK20", "organism": "Human", "refseq_name": "cyclin-dependent kinase 20 isoform 3", "refseq_ac": "NP_001034892", "gene_names_uniprotkb": "CDK20; CCRK; CDCH", "gene_names_refseq": "CCRK; CDCH; CDK20; P42; PNQALRE", "protein_names_uniprotkb": "Cyclin-dependent kinase 20; 2.7.11.22; CAK-kinase p42; CDK-activating kinase p42; Cell cycle-related kinase; Cell division protein kinase 20; Cyclin-dependent protein kinase H; Cyclin-kinase-activating kinase p42", "protein_names_refseq": "CAK-kinase p42; CDK-activating kinase p42; cell cycle-related kinase; cell division protein kinase 20; cyclin-dependent kinase 20 isoform 3; cyclin-dependent protein kinase H; cyclin-kinase-activating kinase p42", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741)", "pathway": " (hsa:23552)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "14597612;16552187;17344846;19672860;21986944;22564745;28834231;28939663;29557506;29786170;31154438;31844290;31848261;32157095;32488085;32897882;32983136;33141586;33392160;33968037;34087483;35051231;35609210;36010968;36581221;37469151;39894887", "class_list": "", "function": "BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1., [RefSeq, PubMed]; Depletion of PNQALRE by >80% due to RNA interference (RNAi) impairs cell proliferation, but fails to arrest the cell cycle at a discrete point., [RefSeq, PubMed]; Identification of p42, a novel cyclin-dependent kinase-activating kinase (CAK) activity in human cells; p42 is essential for the phosphorylation of Thr-160 and activation of CDK2 and is indispensable for cell growth, [RefSeq, PubMed]; Overexpression of CCRK is associated with ovarian carcinoma., [RefSeq, PubMed]; Required for high-level Shh responses in the developing neural tube. Together with TBC1D32, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to SHH signaling (By similarity). Involved in cell growth. Activates CDK2, a kinase involved in the control of the cell cycle, by phosphorylating residue 'Thr-160'., [UniProtKB, PubMed]; Results delineate an immunosuppressive mechanism of the hepatoma-intrinsic CCRK signalling and highlight an overexpressed kinase target whose inhibition might empower hepatocellular carcinoma immunotherapy, [RefSeq, PubMed]; The Role of CDK20 Protein in Carcinogenesis. Review article, [RefSeq, PubMed]; The protein encoded by this gene contains a kinase domain most closely related to the cyclin-dependent protein kinases. The encoded kinase may activate cyclin-dependent kinase 2 and is involved in cell growth. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [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": 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": 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": "A2A389;A2A390;B4DQX1;O95137;Q5EDC4;Q5VYW1;Q9BUF4", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0004693 cyclin-dependent protein serine/threonine kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005929 cilium", "go_biological_process": "GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q8IZL9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TBY9-1", "uniprot_id": "CF251_HUMAN", "mass": 129952.0, "length": 1149, "protein_name": "Cilia- and flagella-associated protein 251", "gene_name": "CFAP251", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 251 isoform 2", "refseq_ac": "NP_001171474", "gene_names_uniprotkb": "CFAP251; WDR66", "gene_names_refseq": "CFAP251; CaM-IP4; SPGF33; WDR66", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 251; WD repeat-containing protein 66", "protein_names_refseq": "WD repeat domain 66; WD repeat-containing protein 66; cilia- and flagella-associated protein 251 isoform 2", "tax_id": 9606, "disease": "spermatogenic failure 33 (Disease Ontology:DOID:0111915)", "pathway": " (hsa:144406)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "17924679;19110211;30122540;30122541;30310178;30569117;30779550;31140103;31975383;32157095;32161152;32161166;32938616;33968037;33981976;34171305;35051231;35580925;36010968", "class_list": "", "function": "Biallelic mutations of CFAP251 is associated with sperm flagellar defects and male infertility., [RefSeq, PubMed]; Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility., [RefSeq, PubMed]; Eukaryotic initiation Factor 4AIII facilitates hepatocellular carcinoma cell proliferation, migration, and epithelial-mesenchymal transition process via antagonistically binding to WD repeat domain 66 with miRNA-2113., [RefSeq, PubMed]; Involved in spermatozoa motility (PubMed:30122540, PubMed:30122541). May also regulate cilium motility through its role in the assembly of the axonemal radial spokes (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]., [RefSeq]; WDR66 expression is regulated by Lin28a and FBXL19-AS1 in breast cancer., [RefSeq, PubMed]; WDR66 expression was identified to be inversely associated with PTEN expression and negatively correlated with the overall survival of patients with salivary adenoid cystic carcinoma (SACC). Collectively, the results of the study revealed a novel function of WDR66 in mediating the progression of PTENdeficient SACCs., [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": 12, "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": "C9J1W2;Q8IYA3;Q8N898;Q8NDE7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0097229 sperm end piece;GO:0031514 motile cilium;GO:0036126 sperm flagellum;GO:0005930 axoneme;GO:0097225 sperm midpiece", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0003341 cilium movement", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q8TBY9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BWT1-1", "uniprot_id": "CDCA7_HUMAN", "mass": 42573.0, "length": 371, "protein_name": "Cell division cycle-associated protein 7", "gene_name": "CDCA7", "organism": "Human", "refseq_name": "cell division cycle-associated protein 7 isoform 1", "refseq_ac": "NP_114148", "gene_names_uniprotkb": "CDCA7; JPO1", "gene_names_refseq": "CDCA7; ICF3; JPO1", "protein_names_uniprotkb": "Cell division cycle-associated protein 7; Protein JPO1", "protein_names_refseq": "c-Myc target JPO1; cell division cycle-associated protein 7 isoform 1; cell division cycle-associated protein 7", "tax_id": 9606, "disease": "immunodeficiency-centromeric instability-facial anomalies syndrome 3 (Disease Ontology:DOID:0090010)", "pathway": " (hsa:83879)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;11598121;12188893;15994934;16580749;21406692;23166294;23186163;25418920;25576301;26216346;26375851;26992070;27600516;27846572;27862975;28514659;28832583;28834231;28904123;29242379;29393594;30307408;30379171;31530632;31844290;31848261;32157095;32357974;32387766;32502341;32897882;32938616;33141586;33392160;33592498;33691108;33717175;33936100;34171305;34405274;34509645;34561969;35051231;36056599;37510310;39097891;39178260;39178265", "class_list": "", "function": "CDCA7 associates with MYC and this association is modulated in a phosphorylation-dependent manner., [RefSeq, PubMed]; CDCA7 promotes TGF-beta-induced epithelial-mesenchymal transition via transcriptionally regulating Smad4/Smad7 in ESCC., [RefSeq, PubMed]; Circ_0006220 (circ-TADA2A) accelerates prostate cancer cell malignant behaviors through miR-520f-3p/CDCA7 axis. Publication Status: Online-Only, [RefSeq, PubMed]; High Expression of CDCA7 in the Prognosis of Glioma and Its Relationship with Ferroptosis and Immunity. Publication Status: Online-Only, [RefSeq, PubMed]; JPO1/CDCA7 is a unique transcription regulator whose expression is activated by E2F1 as well as c-Myc., [RefSeq, PubMed]; Participates in MYC-mediated cell transformation and apoptosis; induces anchorage-independent growth and clonogenicity in lymphoblastoid cells. Insufficient to induce tumorigenicity when overexpressed but contributes to MYC-mediated tumorigenesis (PubMed:11598121, PubMed:15994934, PubMed:23166294). Also functions as a critical cofactor for the chromatin remodeler HELLS, facilitating its recruitment to specific genomic regions to maintain DNA methylation patterns and heterochromatin integrity. Recognizes hemimethylated CpG within nucleosomes where it recruits HELLS to remodel chromatin and facilitate access of de novo DNA methyltransferases to heterochromatic regions, enabling proper establishment of DNA methylation patterns (PubMed:30307408, PubMed:39178260). May play a role as transcriptional regulator (PubMed:16580749)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The ICF syndrome protein CDCA7 harbors a unique DNA binding domain that recognizes a CpG dyad in the context of a non-B DNA., [RefSeq, PubMed]; This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression of this gene is found to enhance the transformation of lymphoblastoid cells, and it complements a transformation-defective Myc Box II mutant, suggesting its involvement in c-Myc-mediated cell transformation. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [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": 4, "reported_mutagensis": 15, "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": "B4DLP8;B4DV66;Q53EW5;Q580W9;Q658K4;Q658N4;Q8NBY9;Q96BV8;Q96SP5", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0044729 hemi-methylated DNA-binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005694 chromosome;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0042127 regulation of cell population proliferation;GO:0006355 regulation of DNA-templated transcription;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9BWT1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BXJ1-1", "uniprot_id": "C1QT1_HUMAN", "mass": 31743.0, "length": 281, "protein_name": "Complement C1q tumor necrosis factor-related protein 1", "gene_name": "C1QTNF1", "organism": "Human", "refseq_name": "complement C1q tumor necrosis factor-related protein 1 isoform 1 precursor", "refseq_ac": "NP_112230", "gene_names_uniprotkb": "C1QTNF1; CTRP1; PRO353", "gene_names_refseq": "C1QTNF1; CTRP1; GIP; ZSIG37", "protein_names_uniprotkb": "Complement C1q tumor necrosis factor-related protein 1; G protein-coupled receptor-interacting protein; GIP", "protein_names_refseq": "C1q and tumor necrosis factor related protein 1; G protein coupled receptor interacting protein; complement C1q tumor necrosis factor-related protein 1 isoform 1 precursor; complement C1q tumor necrosis factor-related protein 1; g protein-coupled receptor-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:114897)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12409230;12975309;16386877;16806199;30833945;32938616;34171305;35051231;35172300;35202556;36195912;36812667;37155309", "class_list": "", "function": "C1q/TNF-related protein-1: Potential biomarker for early diagnosis of autism spectrum disorder., [RefSeq, PubMed]; CTRP1 prevents high fat diet-induced obesity and improves glucose homeostasis in obese and STZ-induced diabetic mice. Publication Status: Online-Only, [RefSeq, PubMed]; CTRP1: A novel player in cardiovascular and metabolic diseases. Review article, [RefSeq, PubMed]; Molecular cloning, gene expression, and subcellular localization of GIP, [RefSeq, PubMed]; Novel Adipokines CTRP1, CTRP9, and FGF21 in Pediatric Type 1 and Type 2 Diabetes: A Cross-Sectional Analysis., [RefSeq, PubMed]; The association between complement C1q tumour necrosis factor-related protein-1 (CTRP-1) level and metabolic syndrome., [RefSeq, PubMed]; The review describes the potential role of C1qTNF1 as an intracellular regulator of signal transduction Review article, [RefSeq, PubMed]; These findings indicate that CTRP1 expression may be associated with a low-grade chronic inflammation status in adipose tissues., [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": 13, "reported_interactions": 0, "missing_score": 9820, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZMH6;Q96NF2;Q9GZR4", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0005518 collagen binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005576 extracellular region", "go_biological_process": "GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0010628 positive regulation of gene expression;GO:0010544 negative regulation of platelet activation;GO:2000860 positive regulation of aldosterone secretion;GO:0090331 negative regulation of platelet aggregation", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9BXJ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BXJ4-1", "uniprot_id": "C1QT3_HUMAN", "mass": 26994.0, "length": 246, "protein_name": "Complement C1q tumor necrosis factor-related protein 3", "gene_name": "C1QTNF3", "organism": "Human", "refseq_name": "complement C1q tumor necrosis factor-related protein 3 isoform a precursor", "refseq_ac": "NP_112207", "gene_names_uniprotkb": "C1QTNF3; CTRP3; PRO1484", "gene_names_refseq": "C1ATNF3; C1QTNF3; CORCS; CORS-26; CORS26; CORS; CTRP3", "protein_names_uniprotkb": "Complement C1q tumor necrosis factor-related protein 3; CORS26; Collagenous repeat-containing sequence 26 kDa protein; Secretory protein CORS26", "protein_names_refseq": "C1q and tumor necrosis factor related protein 3; cartonectin; collagenous repeat-containing sequence 26 kDa protein; collagenous repeat-containing sequence of 26-kDa; complement C1q tumor necrosis factor-related protein 3 isoform a precursor; complement C1q tumor necrosis factor-related protein 3; secretory protein CORS26", "tax_id": 9606, "disease": "", "pathway": " (hsa:114899)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "12975309;14654242;16303743;17311679;17534697;18991276;19139490;20952387;27862975;29557506;31154438;32157095;33043033;37210762;37637169;38436713;38618732;38924255", "class_list": "", "function": "Blood level is determined by a glucose tolerance test in normal adults Publication Status: Online-Only, [RefSeq, PubMed]; CTRP3 attenuates inflammation, oxidative and cell death in cisplatin induced HK-2 cells. Publication Status: Online-Only, [RefSeq, PubMed]; CTRP3/cartducin may be involved as a novel angiogenic factor in the formation of neointima following angioplasty., [RefSeq, PubMed]; Clinical Significance of Serum CTRP3 Level in the Prediction of Cardiac and Intestinal Mucosal Barrier Dysfunction in Patients with Severe Acute Pancreatitis., [RefSeq, PubMed]; Decreased circulating CTRP3 levels in acute and chronic cardiovascular patients., [RefSeq, PubMed]; KLF10 knockdown negatively regulates CTRP3 to improve OGD/R-induced brain microvascular endothelial cell injury and barrier dysfunction through Nrf2/HO-1 signaling pathway., [RefSeq, PubMed]; The relationships between biological novel biomarkers Lp-PLA2 and CTRP-3 and CVD in patients with type 2 diabetes mellitus., [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": 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": "Q0VAN4;Q542Y2;Q6MZN1;Q96KY1", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0016020 membrane;GO:0045202 synapse;GO:0070062 extracellular exosome;GO:0043083 synaptic cleft", "go_biological_process": "GO:0010629 negative regulation of gene expression;GO:0032715 negative regulation of interleukin-6 production;GO:0050728 negative regulation of inflammatory response;GO:0001819 positive regulation of cytokine production;GO:0045444 fat cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9BXJ4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BXJ5-1", "uniprot_id": "C1QT2_HUMAN", "mass": 29952.0, "length": 285, "protein_name": "Complement C1q tumor necrosis factor-related protein 2", "gene_name": "C1QTNF2", "organism": "Human", "refseq_name": "complement C1q tumor necrosis factor-related protein 2 isoform 1 precursor", "refseq_ac": "NP_114114", "gene_names_uniprotkb": "C1QTNF2; CTRP2; PRO21054", "gene_names_refseq": "C1QTNF2; CTRP2; zacrp2", "protein_names_uniprotkb": "Complement C1q tumor necrosis factor-related protein 2", "protein_names_refseq": "C1q and tumor necrosis factor related protein 2; complement C1q tumor necrosis factor-related protein 2 isoform 1 precursor; complement C1q tumor necrosis factor-related protein 2; complement-c1q tumor necrosis factor-related protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:114898)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;30429286;31439668;32147289;33874963", "class_list": "", "function": "CTRP2 regulates lipid metabolism in adipose tissue and liver., [RefSeq, PubMed]; Involved in the regulation of lipid metabolism in adipose tissue and liver., [UniProtKB, UniProtKB]; Regulation of circulating CTRP-2/CTRP-9 and GDF-8/GDF-15 by intralipids and insulin in healthy control and polycystic ovary syndrome women following chronic exercise training. Publication Status: Online-Only, [RefSeq, PubMed]; Serum C1q/TNF-Related Protein-2 (CTRP2) Levels are Associated with Coronary Artery 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": 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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0019216 regulation of lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9BXJ5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H8W2-1", "uniprot_id": "CF155_HUMAN", "mass": 13851.0, "length": 130, "protein_name": "Putative uncharacterized protein encoded by LINC00472", "gene_name": "LINC00472", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LINC00472; C6orf155", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00472", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "33392160;35051231;35289036", "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": 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": "E1P533;Q5TG13", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9H8W2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y258-1", "uniprot_id": "CCL26_HUMAN", "mass": 10648.0, "length": 94, "protein_name": "C-C motif chemokine 26", "gene_name": "CCL26", "organism": "Human", "refseq_name": "C-C motif chemokine 26 precursor", "refseq_ac": "NP_006063", "gene_names_uniprotkb": "CCL26; PRO242; SCYA26", "gene_names_refseq": "CCL26; IMAC; MIP-4alpha; MIP-4a; SCYA26; TSC-1", "protein_names_uniprotkb": "C-C motif chemokine 26; CC chemokine IMAC; Eotaxin-3; MIP-4-alpha; Macrophage inflammatory protein 4-alpha; Small-inducible cytokine A26; TSC-1; Thymic stroma chemokine-1", "protein_names_refseq": "C-C motif chemokine 26 precursor; C-C motif chemokine 26; CC chemokine IMAC; MIP-4-alpha; chemokine (C-C motif) ligand 26; chemokine N1; eotaxin-3; macrophage inflammatory protein 4-alpha; small inducible cytokine A26; small inducible cytokine subfamily A (Cys-Cys), member 26; thymic stroma chemokine-1", "tax_id": 9606, "disease": "primary cutaneous T-cell non-Hodgkin lymphoma (Disease Ontology:DOID:0060061); eosinophilic esophagitis (Disease Ontology:DOID:13922); asthma (Disease Ontology:DOID:2841); Churg-Strauss syndrome (Disease Ontology:DOID:3049); atopic dermatitis (Disease Ontology:DOID:3310); coronary artery disease (Disease Ontology:DOID:3393); eosinophilic gastroenteritis (Disease Ontology:DOID:4031); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483); bullous pemphigoid (Disease Ontology:DOID:8506); gastroesophageal reflux disease (Disease Ontology:DOID:8534)", "pathway": " (hsa:10344)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10373330;10415065;10488147;11425309;12975309;20974991;25377782;32350084;36380370;36543402;37200921;37933466;38270326", "class_list": "", "function": "CCL26 displays antimicrobial activity against S. pneumoniae, S. aureus, Non-typeable H. influenzae, and P. aeruginosa., [RefSeq, PubMed]; Chemoattractant for eosinophils and basophils (PubMed:10415065, PubMed:10488147). Acts as a ligand for C-C chemokine receptor CCR3 which triggers Ca(2+) mobilization in eosinophils (PubMed:10415065, PubMed:10488147, PubMed:11425309). Also acts as a ligand for CX3C chemokine receptor CX3CR1, inducing cell chemotaxis (PubMed:20974991)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Eotaxin-2 and eotaxin-3 in malaria exposure and pregnancy. Publication Status: Online-Only, [RefSeq, PubMed]; MCP-4 and Eotaxin-3 Are Novel Biomarkers for Chronic Obstructive Pulmonary Disease. Publication Status: Online-Only, [RefSeq, PubMed]; Th2 cytokine signaling through IL-4Ralpha increases eotaxin-3 secretion and tension in human esophageal smooth muscle., [RefSeq, PubMed]; The functional role of CST1 and CCL26 in asthma development., [RefSeq, PubMed]; This gene is one of two Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 7. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for normal peripheral blood eosinophils and basophils. This protein also has antimicrobial activity, displaying an antibacterial effect on S. pneumoniae, S. aureus, Non-typeable H. influenzae, and P. aeruginosa. The product of this gene is one of three related chemokines that specifically activate chemokine receptor CCR3. This chemokine may contribute to the eosinophil accumulation in atopic diseases. [provided by RefSeq, Jul 2020]., [RefSeq]; [Expression and predictive value of type inflammatory cytokines in nasal secretion in eosinophilic chronic rhinosinusitis with nasal polyps]., [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": 11, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0N0Q5;Q52LV8", "ec_number_list": "", "go_molecular_function": "GO:0031737 CX3C chemokine receptor binding;GO:0048018 receptor ligand activity;GO:0008009 chemokine activity;GO:0048020 CCR chemokine receptor binding;GO:0031728 CCR3 chemokine receptor binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9Y258-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P33681-1", "uniprot_id": "CD80_HUMAN", "mass": 33048.0, "length": 288, "protein_name": "T-lymphocyte activation antigen CD80", "gene_name": "CD80", "organism": "Human", "refseq_name": "T-lymphocyte activation antigen CD80 precursor", "refseq_ac": "NP_005182", "gene_names_uniprotkb": "CD80; CD28LG1; CD28LG; LAB7", "gene_names_refseq": "B7-1; B7.1; B7; BB1; CD28LG1; CD28LG; CD80; LAB7", "protein_names_uniprotkb": "T-lymphocyte activation antigen CD80; Activation B7-1 antigen; B7; BB1; CTLA-4 counter-receptor B7.1", "protein_names_refseq": "B-lymphocyte activation antigen B7; CD80 antigen (CD28 antigen ligand 1, B7-1 antigen); CTLA-4 counter-receptor B7.1; T-lymphocyte activation antigen CD80 precursor; T-lymphocyte activation antigen CD80; activation B7-1 antigen; costimulatory factor CD80; costimulatory molecule variant IgV-CD80", "tax_id": 9606, "disease": "adult T-cell leukemia/lymphoma (Disease Ontology:DOID:0050523); kidney failure (Disease Ontology:DOID:1074); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); high grade glioma (Disease Ontology:DOID:3070); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); demyelinating disease (Disease Ontology:DOID:3213); periodontal disease (Disease Ontology:DOID:3388); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); rheumatoid arthritis (Disease Ontology:DOID:7148); systemic lupus erythematosus (Disease Ontology:DOID:9074); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:941); (R-HSA-1257604); (R-HSA-2219530); (R-HSA-389356); (R-HSA-389357); (R-HSA-389359); (R-HSA-389513); (R-HSA-6783783); (R-HSA-6811558)", "pathway_count": 9, "publication_count": 152, "publication_id_list": "10092818;10191262;10415057;10433356;10438913;10583602;10661405;10694513;10799894;10849438;11147812;11279502;11803464;11976720;11994459;12121659;12138205;12167717;12196291;12554859;12626585;12660731;12670391;12670394;12767043;12832402;12876557;1325671;1377173;1460289;15142525;15718470;15834429;15886116;15919823;16339315;16456541;16551244;16647110;16818765;16920215;16982608;1714935;17200115;17626883;17953528;18079394;18295596;18317450;18439422;18594509;18606717;18754654;18755892;18829560;18925875;19185485;1940369;19405949;1940799;19411071;19576174;19644473;19805105;19962665;20145033;20231295;20338997;20522708;20713702;21188471;21317208;21368164;21478295;21668414;21827948;21976531;21984976;22120714;22188813;22588880;22802530;23186163;24190977;24743777;2794510;28467828;28904123;30626607;31844290;32350084;32983136;35251023;36064421;36107635;36727298;37074911;37614091;38467718;7510216;7512027;7512451;7516408;7527824;7543512;7593617;7594602;7637810;7684412;7687627;7737275;7744773;7902377;8063757;8102388;8120391;8163946;8186324;8301137;8537680;8609386;8621607;8638161;8645157;8649453;8657148;8662928;8734788;8742066;8871669;8897595;8910398;8921438;8946277;8946678;8990121;9013939;9032261;9312047;9354687;9438848;9449724;9550426;9694876;9712716;9736715;9794440;9822663;9836587;9895304;9918218;9973466", "class_list": "", "function": "(Microbial infection) Acts as a receptor for adenovirus subgroup B., [UniProtKB, PubMed]; Clinicopathologic Evaluation of CD80, CD86, and PD-L1 Expressions with Immunohistochemical Methods in Malignant Melanoma Patients., [RefSeq, PubMed]; Costimulatory molecule that belongs to the immunoglobulin superfamily that plays an important role in T-lymphocyte activation (PubMed:38467718). Acts as the primary auxiliary signal augmenting the MHC/TCR signal in naive T-cells by acting as a ligand for the CD28 receptor which is constitutively expressed on the cell surface of T-cells (PubMed:12196291). In turn, activates different signaling pathways such as NF-kappa-B or MAPK leading to the production of different cytokines (PubMed:10438913). Also acts as an inhibitor of T-cell activation by acting as a ligand for CTLA4, a decoy receptor, thereby blocking CD28-mediated T-cell priming (PubMed:10583602, PubMed:11279502). In addition, CD28/CD80 costimulatory signal stimulates glucose metabolism and ATP synthesis of T-cells by activating the PI3K/Akt signaling pathway (PubMed:12121659). Also acts as a regulator of PDL1/PDCD1 interactions to limit excess engagement of PDL1 and its inhibitory role in immune responses (PubMed:36727298). Expressed on B-cells, plays a critical role in regulating interactions between B-cells and T-cells in both early and late germinal center responses, which are crucial for the generation of effective humoral immune responses (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Human immunomodulatory ligand B7-1 mediates synaptic remodeling via the p75 neurotrophin receptor. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a membrane receptor that is activated by the binding of CD28 or CTLA-4. The activated protein induces T-cell proliferation and cytokine production. This protein can act as a receptor for adenovirus subgroup B and may play a role in lupus neuropathy. [provided by RefSeq, Aug 2011]., [RefSeq]; The role of soluble CD80 in patients with soft tissue tumors. 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": 7, "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": 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": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 11, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q5DTA9;Q5DTB0", "ec_number_list": "", "go_molecular_function": "GO:0015026 coreceptor activity;GO:0001618 virus receptor activity;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0009897 external side of plasma membrane;GO:0098636 protein complex involved in cell adhesion", "go_biological_process": "GO:0002710 negative regulation of T cell mediated immunity;GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0035556 intracellular signal transduction;GO:0031295 T cell costimulation", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "P33681-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UNQ2-1", "uniprot_id": "DIM1_HUMAN", "mass": 35236.0, "length": 313, "protein_name": "Dimethyladenosine transferase", "gene_name": "DIMT1", "organism": "Human", "refseq_name": "dimethyladenosine transferase isoform 2", "refseq_ac": "NP_001335005", "gene_names_uniprotkb": "DIMT1; DIMT1L; HUSSY-05", "gene_names_refseq": "DIM1; DIMT1L; DIMT1; HSA9761; HUSSY5", "protein_names_uniprotkb": "Dimethyladenosine transferase; 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase; 18S rRNA dimethylase; 2.1.1.183; DIM1 dimethyladenosine transferase 1 homolog; DIM1 dimethyladenosine transferase 1-like; S-adenosylmethionine-6-N',N'-adenosyl(rRNA) dimethyltransferase", "protein_names_refseq": "18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))- dimethyltransferase; 18S rRNA dimethylase; DIM1 dimethyladenosine transferase 1 homolog; DIM1 dimethyladenosine transferase 1-like; DIMT1 rRNA methyltransferase and ribosome maturation factor; S-adenosylmethionine-6-N',N'-adenosyl(rRNA) dimethyltransferase; dimethyladenosine transferase isoform 2; dimethyladenosine transferase; probable 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))- dimethyltransferase; probable 18S rRNA dimethylase; probable S-adenosylmethionine-6-N',N'-adenosyl(rRNA) dimethyltransferase; probable dimethyladenosine transferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:27292); (R-HSA-6790901)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10606270;11081632;11124703;11237011;11935223;11978965;12417735;12429849;15199136;16381836;16782898;17636026;18991276;19033376;19463982;20047967;22898188;23391857;24086612;24366607;24714562;25187177;25411247;25525153;25576301;25645385;25653167;25851604;26085946;26154972;26196125;26992070;27084949;27600516;27846572;27920218;28164410;28832583;28904123;29242379;29351928;29393594;29493099;29508533;29557506;29632046;30429286;30524438;30779550;31530632;31844290;32157095;32357974;32387766;32502341;32616653;32938616;33298915;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34405274;34473991;34509645;34516797;35051231;35148993;35561310;36010968;37024283;37217939;40596516;40914422;9211966;9512526", "class_list": "", "function": "DIMT1L and WBSCR22-TRMT112 are required for distinct pre-rRNA processing reactions leading to synthesis of 18S rRNA. Ribosome biogenesis requires the presence of the modification enzyme rather than its RNA-modifying catalytic activity., [RefSeq, PubMed]; Epigenetic silencing of miR-210 increases the proliferation of gastric epithelium during chronic Helicobacter pylori infection by activating STMN1 and DIMT1. Publication Status: Online-Only, [RefSeq, PubMed]; Human DIMT1 generates N2(6,6)A-dimethylation-containing small RNAs., [RefSeq, PubMed]; Noncatalytic regulation of 18S rRNA methyltransferase DIMT1 in acute myeloid leukemia., [RefSeq, PubMed]; Ribosomal biogenesis regulator DIMT1 controls beta-cell protein synthesis, mitochondrial function, and insulin secretion., [RefSeq, PubMed]; Specifically dimethylates two adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 18S rRNA in the 40S particle (PubMed:25851604). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity (PubMed:25851604). 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, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Structural and catalytic roles of the human 18S rRNA methyltransferases DIMT1 in ribosome assembly and translation., [RefSeq, PubMed]; Studies show that miroRNA miR-210 acts as a tumor suppressor in hypoxic conditions by downregulating the 18S rRNA base methyltransferase (DIMT1)-interferon regulatory factor 4 (IRF4) axis., [RefSeq, PubMed]; The protein encoded by this gene is a methyltransferase that is responsible for dimethylation of adjacent adenosines near the 18S rRNA decoding site. The encoded protein is essential for ribosome biogenesis, although its catalytic activity is not involved in the process. The yeast ortholog of this protein functions in the cytoplasm while this protein functions in the nucleus. [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": 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": 10, "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": "O76025;Q9BU77;Q9UES1", "ec_number_list": "2.1.1.-;2.1.1.183", "go_molecular_function": "GO:0003723 RNA binding;GO:0052909 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity;GO:0000179 rRNA (adenine-N6,N6-)-dimethyltransferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0032040 small-subunit processome", "go_biological_process": "GO:0031167 rRNA methylation;GO:2000234 positive regulation of rRNA processing;GO:0042274 ribosomal small subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q9UNQ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96DF8-1", "uniprot_id": "ESS2_HUMAN", "mass": 52568.0, "length": 476, "protein_name": "Splicing factor ESS-2 homolog", "gene_name": "ESS2", "organism": "Human", "refseq_name": "splicing factor ESS-2 homolog", "refseq_ac": "NP_073210", "gene_names_uniprotkb": "ESS2; DGCR13; DGCR14; DGSH; DGSI; ES2", "gene_names_refseq": "DGCR13; DGCR14; DGS-H; DGS-I; DGSH; DGSI; ES2; ESS-2; ESS2; Es2el; bis1", "protein_names_uniprotkb": "Splicing factor ESS-2 homolog; DGS-H; DiGeorge syndrome critical region 13; DiGeorge syndrome critical region 14; DiGeorge syndrome protein H; Protein ES2", "protein_names_refseq": "DiGeorge syndrome critical region gene 13; DiGeorge syndrome critical region gene 14; DiGeorge syndrome critical region gene DGSI; DiGeorge syndrome gene H; DiGeorge syndrome gene I; Protein DGCR13; diGeorge syndrome protein H; ess-2 splicing factor homolog; protein DGCR14; splicing factor ESS-2 homolog", "tax_id": 9606, "disease": "DiGeorge syndrome (Disease Ontology:DOID:11198); velocardiofacial syndrome (Disease Ontology:DOID:12583)", "pathway": " (hsa:8220)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "11237011;11991638;17081983;18477386;18669648;19413330;19664995;20068231;23186163;23481700;24715725;25418920;25576301;25880248;26154972;26375851;27846572;27862975;28228285;28832583;28904123;29242379;29393594;29493099;29557506;29632711;30315122;30429286;31154438;31844290;31848261;31998317;32157095;32265295;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33592498;34171305;34211107;34509645;34694367;34932366;35051231;35132862;35254053;35580925;35933014;36284347;37541260;38838015;40307207;8703114;8776594;8786095;9063747", "class_list": "", "function": "May be involved in pre-mRNA splicing., [UniProtKB, UniProtKB]; This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]., [RefSeq]; Transcriptional coregulator Ess2 controls survival of post-thymic CD4(+) T cells through the Myc and IL-7 signaling pathways., [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": 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q49AH7;Q9BTZ4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0071013 catalytic step 2 spliceosome", "go_biological_process": "GO:0007399 nervous system development;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q96DF8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00115-1", "uniprot_id": "DNS2A_HUMAN", "mass": 39581.0, "length": 360, "protein_name": "Deoxyribonuclease-2-alpha", "gene_name": "DNASE2", "organism": "Human", "refseq_name": "deoxyribonuclease-2-alpha precursor", "refseq_ac": "NP_001366", "gene_names_uniprotkb": "DNASE2; DNASE2A; DNL2", "gene_names_refseq": "AIPCS; DNASE2A; DNASE2; DNL2; DNL", "protein_names_uniprotkb": "Deoxyribonuclease-2-alpha; 3.1.22.1; Acid DNase; DNase II alpha; Deoxyribonuclease II alpha; Lysosomal DNase II; R31240_2", "protein_names_refseq": "DNase II alpha; DNase II, lysosomal; R31240_2; acid DNase; deoxyribonuclease II alpha; deoxyribonuclease II, lysosomal; deoxyribonuclease-2-alpha precursor; deoxyribonuclease-2-alpha; lysosomal DNase II", "tax_id": 9606, "disease": "hypertrichotic osteochondrodysplasia Cantu type (Disease Ontology:DOID:0060569); Parkinsonism (Disease Ontology:DOID:0080855); hypertension (Disease Ontology:DOID:10763); sciatic neuropathy (Disease Ontology:DOID:11446); coronary artery disease (Disease Ontology:DOID:3393); rheumatoid arthritis (Disease Ontology:DOID:7148); autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency (MONDO:MONDO:0800132)", "pathway": " (hsa:1777); (R-HSA-432720)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "10.1101/2023.09.13.557529;10394364;10436028;11139587;11237011;11333915;11604418;11694590;11906178;11994746;12558498;12594037;12754519;16155256;16867982;17116749;19159218;19559397;19651769;20230749;20708039;21620353;23090970;24190977;24715725;25502872;26992070;27893789;28218747;28467828;28514659;28832583;28834231;28904123;29242379;29259162;29437277;29632711;29741879;29769354;30192525;30410026;30484775;31022206;31217245;31611695;31775019;31844290;32157095;32350084;32387766;32488085;32938616;33141586;33592498;33912179;33936100;33968037;34171305;34357683;34509645;35051231;35154160;35251023;35318648;35580925;37074911;37938771;38665916;8374173;8524399;8670264;9446563;9647784;9714827;9733768;9812984;9924608", "class_list": "", "function": "Hydrolyzes DNA under acidic conditions with a preference for double-stranded DNA. Plays a major role in the clearance of nucleic acids generated through apoptosis, hence preventing autoinflammation (PubMed:29259162, PubMed:31775019). Necessary for proper fetal development and for definitive erythropoiesis in fetal liver and bone marrow, where it degrades nuclear DNA expelled from erythroid precursor cells (PubMed:29259162)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Study identifies biallelic mutations in DNASE2, associated with a loss of DNase II endonuclease activity causing type I interferonopathy in three patients from two unrelated families. Publication Status: Online-Only, [RefSeq, PubMed]; Study of the copy number variations (CNVs) for DNASE1L3 and DNASE2 in Japanese and German populations found that only 2 diploid copy numbers for these DNASE CNVs was distributed in both populations; no copy loss or gain was evident for any of the autoimmune-related DNase genes. These human autoimmune-related DNase genes show low genetic diversity of CNVs resulting in alterations of the in vivo levels of DNase activity. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [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": 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": 17, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 7, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2RD06;B7Z4K6;O43910", "ec_number_list": "3.1.22.1;3.1.3.-;3.6.4.10;3.1.6.14;3.6.5.5;2.3.1.-;3.6.5.2;1.8.4.-;5.3.4.1;3.4.18.1", "go_molecular_function": "GO:0004531 deoxyribonuclease II activity", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0005764 lysosome", "go_biological_process": "GO:0043277 apoptotic cell clearance;GO:0006309 apoptotic DNA fragmentation", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "O00115-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60832-1", "uniprot_id": "DKC1_HUMAN", "mass": 57674.0, "length": 514, "protein_name": "H/ACA ribonucleoprotein complex subunit DKC1", "gene_name": "DKC1", "organism": "Human", "refseq_name": "H/ACA ribonucleoprotein complex subunit DKC1 isoform 2", "refseq_ac": "NP_001135935", "gene_names_uniprotkb": "DKC1; NOLA4", "gene_names_refseq": "CBF5; CHINE1; DKC1; DKCX; DKC; NAP57; NOLA4; XAP101", "protein_names_uniprotkb": "H/ACA ribonucleoprotein complex subunit DKC1; 5.4.99.-; CBF5 homolog; Dyskerin; Nopp140-associated protein of 57 kDa; Nucleolar protein NAP57; Nucleolar protein family A member 4; snoRNP protein DKC1", "protein_names_refseq": "CBF5 homolog; H/ACA ribonucleoprotein complex subunit 4; H/ACA ribonucleoprotein complex subunit DKC1 isoform 2; H/ACA ribonucleoprotein complex subunit DKC1; dyskeratosis congenita 1, dyskerin; nopp140-associated protein of 57 kDa; nucleolar protein NAP57; nucleolar protein family A member 4; snoRNP protein DKC1", "tax_id": 9606, "disease": "aspiration pneumonia (Disease Ontology:DOID:0050152); X-linked dyskeratosis congenita (Disease Ontology:DOID:0070025); urinary tract infection (Disease Ontology:DOID:0080784); Graves ophthalmopathy (Disease Ontology:DOID:0081120); graft-versus-host disease (Disease Ontology:DOID:0081267); endometritis (Disease Ontology:DOID:1002); keratoconus (Disease Ontology:DOID:10126); common cold (Disease Ontology:DOID:10459); Alzheimer's disease (Disease Ontology:DOID:10652); otitis media (Disease Ontology:DOID:10754); cholesteatoma of middle ear (Disease Ontology:DOID:10964); corneal edema (Disease Ontology:DOID:11030); osteoporosis (Disease Ontology:DOID:11476); beta thalassemia (Disease Ontology:DOID:12241); vitiligo (Disease Ontology:DOID:12306); varicocele (Disease Ontology:DOID:12337); aplastic anemia (Disease Ontology:DOID:12449); uveitis (Disease Ontology:DOID:13141); cholestasis (Disease Ontology:DOID:13580); Fabry disease (Disease Ontology:DOID:14499); cystic fibrosis (Disease Ontology:DOID:1485); pancreatic cancer (Disease Ontology:DOID:1793); dyskeratosis congenita (Disease Ontology:DOID:2729); asthma (Disease Ontology:DOID:2841); interstitial lung disease (Disease Ontology:DOID:3082); pulmonary fibrosis (Disease Ontology:DOID:3770); lung non-small cell carcinoma (Disease Ontology:DOID:3908); hyperglycemia (Disease Ontology:DOID:4195); Schnitzler syndrome (Disease Ontology:DOID:4371); pneumonia (Disease Ontology:DOID:552); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); rheumatoid arthritis (Disease Ontology:DOID:7148); end stage renal disease (Disease Ontology:DOID:783); periodontitis (Disease Ontology:DOID:824); osteoarthritis (Disease Ontology:DOID:8398); lung disease (Disease Ontology:DOID:850); cholesteatoma (Disease Ontology:DOID:869); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); diabetic retinopathy (Disease Ontology:DOID:8947); acute myeloid leukemia (Disease Ontology:DOID:9119); iridocyclitis (Disease Ontology:DOID:9383); multiple myeloma (Disease Ontology:DOID:9538); type 1 diabetes mellitus (Disease Ontology:DOID:9744); cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 (MONDO:MONDO:0958178)", "pathway": " (hsa:1736); (R-HSA-171319); (R-HSA-174430); (R-HSA-6790901)", "pathway_count": 4, "publication_count": 222, "publication_id_list": "10364516;10556300;10583221;10591218;10606270;10903840;11074001;11081632;11237011;11935223;11978965;12417735;12429849;12437656;12699629;15044956;15060173;15189140;15199136;15302935;15304085;16083285;16314528;16339074;16381836;16522649;16565220;16601202;16618814;16782898;16964243;17081983;17172855;17287340;17322306;17395830;17417794;17487921;17636026;17924679;18212344;18318008;18358808;18452278;18491316;18523010;18669648;18691976;18707149;18767875;18802941;19007248;19033376;19179534;19369195;19383767;19413330;19415658;19463982;19651622;19664994;19664995;19690332;19691289;19734544;19854130;19879169;20047967;20068231;20166139;20351177;20404094;20524933;20639858;20934997;21406692;21602826;21820037;21846770;22223895;22424782;22544926;22579284;22871736;23103865;23186163;23391857;23481700;23657261;23685356;24086612;24219293;24275569;24366607;24714562;24715725;24914498;25114211;25128433;25218447;25219674;25271372;25411247;25502872;25525153;25576301;25620558;25645385;25653167;25755297;25772364;25851604;25892735;26085946;26154972;26196125;26375851;26728094;26992070;27084949;27397612;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28334750;28510447;28832583;28834231;28860189;28904123;29178645;29242379;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29695869;29769354;29774655;29786170;29789417;29901172;30026550;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31723267;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32554502;32897882;32938616;32983136;33109704;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34725712;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37217939;37938771;38082360;38376551;38665916;39103487;40914422;6693436;9211966;9512526;9590285;9888995", "class_list": "", "function": "3 novel alternative splice isoforms of DKC1 derived from human X-linked dyskeratosis congenita 1 have been identified., [RefSeq, PubMed]; A pan-cancer analysis of Dyskeratosis congenita 1 (DKC1) as a prognostic biomarker. Publication Status: Online-Only, [RefSeq, PubMed]; Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:25219674, PubMed:32554502). This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1 (PubMed:25219674). Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Required for ribosome biogenesis and telomere maintenance (PubMed:19179534, PubMed:25219674). Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme (PubMed:19179534)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; DKC1 aggravates gastric cancer cell migration and invasion through up-regulating the expression of TNFAIP6. Publication Status: Online-Only, [RefSeq, PubMed]; Identifying and validating the roles of the cuproptosis-related gene DKC1 in cancer with a focus on esophageal carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression., [UniProtKB, PubMed]; Suggests that DKC1 nucleolar and cytoplasmic functions might cumulatively account for the plethora of manifestations displayed by this syndrome, [RefSeq, PubMed]; This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 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": 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": 1, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 44, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "F5BSB3;O43845;Q96G67;Q9Y505", "ec_number_list": "3.1.3.16;2.7.7.49;5.4.99.-;2.7.11.22;5.6.2.3;5.6.2.-;3.6.4.12", "go_molecular_function": "GO:0003723 RNA binding;GO:0003720 telomerase activity;GO:0009982 pseudouridine synthase activity;GO:0034513 box H/ACA snoRNA binding;GO:0070034 telomerase RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0001650 fibrillar center", "go_biological_process": "GO:0000455 enzyme-directed rRNA pseudouridine synthesis;GO:0090666 scaRNA localization to Cajal body;GO:1904867 protein localization to Cajal body;GO:0006396 RNA processing;GO:0032212 positive regulation of telomere maintenance via telomerase", "synthesized_glycan_count": 0, "hit_score": 22.5, "record_id": "O60832-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94907-1", "uniprot_id": "DKK1_HUMAN", "mass": 28672.0, "length": 266, "protein_name": "Dickkopf-related protein 1", "gene_name": "DKK1", "organism": "Human", "refseq_name": "dickkopf-related protein 1 precursor", "refseq_ac": "NP_036374", "gene_names_uniprotkb": "DKK1; PRO1008", "gene_names_refseq": "DKK-1; DKK1; SK", "protein_names_uniprotkb": "Dickkopf-related protein 1; Dickkopf-1; Dkk-1; SK; hDkk-1", "protein_names_refseq": "dickkopf 1 homolog; dickkopf-1 like; dickkopf-like protein 1; dickkopf-related protein 1 precursor; dickkopf-related protein 1", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); obstructive sleep apnea (Disease Ontology:DOID:0050848); glomerulosclerosis (Disease Ontology:DOID:0050851); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); myelodysplastic syndrome (Disease Ontology:DOID:0050908); colitis (Disease Ontology:DOID:0060180); alcohol-associated liver disease (Disease Ontology:DOID:0070658); mucositis (Disease Ontology:DOID:0080178); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); COVID-19 (Disease Ontology:DOID:0080600); urinary tract infection (Disease Ontology:DOID:0080784); Parkinsonism (Disease Ontology:DOID:0080855); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); keratoconus (Disease Ontology:DOID:10126); dry eye syndrome (Disease Ontology:DOID:10140); thalassemia (Disease Ontology:DOID:10241); pleurisy (Disease Ontology:DOID:10247); common cold (Disease Ontology:DOID:10459); stomach cancer (Disease Ontology:DOID:10534); pleural tuberculosis (Disease Ontology:DOID:106); Alzheimer's disease (Disease Ontology:DOID:10652); kidney failure (Disease Ontology:DOID:1074); otitis media (Disease Ontology:DOID:10754); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); membranous glomerulonephritis (Disease Ontology:DOID:10976); urinary bladder cancer (Disease Ontology:DOID:11054); hydronephrosis (Disease Ontology:DOID:11111); adult respiratory distress syndrome (Disease Ontology:DOID:11394); sciatic neuropathy (Disease Ontology:DOID:11446); osteoporosis (Disease Ontology:DOID:11476); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); nephrotic syndrome (Disease Ontology:DOID:1184); primary biliary cholangitis (Disease Ontology:DOID:12236); varicocele (Disease Ontology:DOID:12337); Graves' disease (Disease Ontology:DOID:12361); paracoccidioidomycosis (Disease Ontology:DOID:12662); agranulocytosis (Disease Ontology:DOID:12987); retinopathy of prematurity (Disease Ontology:DOID:13025); crescentic glomerulonephritis (Disease Ontology:DOID:13139); uveitis (Disease Ontology:DOID:13141); Behcet's disease (Disease Ontology:DOID:13241); Kawasaki disease (Disease Ontology:DOID:13378); anodontia (Disease Ontology:DOID:13714); hypolipoproteinemia (Disease Ontology:DOID:1387); polyneuropathy (Disease Ontology:DOID:1389); Parkinson's disease (Disease Ontology:DOID:14330); cystic fibrosis (Disease Ontology:DOID:1485); alcohol use disorder (Disease Ontology:DOID:1574); thrombocytopenia (Disease Ontology:DOID:1588); depressive disorder (Disease Ontology:DOID:1596); breast cancer (Disease Ontology:DOID:1612); cystitis (Disease Ontology:DOID:1679); retinal vein occlusion (Disease Ontology:DOID:1727); pancreatic cancer (Disease Ontology:DOID:1793); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); hepatitis C (Disease Ontology:DOID:1883); dental caries (Disease Ontology:DOID:216); thrombocytosis (Disease Ontology:DOID:2228); transient cerebral ischemia (Disease Ontology:DOID:224); arteriosclerosis (Disease Ontology:DOID:2349); anemia (Disease Ontology:DOID:2355); multiple sclerosis (Disease Ontology:DOID:2377); nephrosis (Disease Ontology:DOID:2527); asthma (Disease Ontology:DOID:2841); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); bronchiolitis (Disease Ontology:DOID:2942); pulmonary tuberculosis (Disease Ontology:DOID:2957); IgA glomerulonephritis (Disease Ontology:DOID:2986); familial Mediterranean fever (Disease Ontology:DOID:2987); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); coronary artery disease (Disease Ontology:DOID:3393); brain infarction (Disease Ontology:DOID:3454); middle cerebral artery infarction (Disease Ontology:DOID:3525); gastric adenocarcinoma (Disease Ontology:DOID:3717); pulmonary fibrosis (Disease Ontology:DOID:3770); lung non-small cell carcinoma (Disease Ontology:DOID:3908); tuberculosis (Disease Ontology:DOID:399); systemic scleroderma (Disease Ontology:DOID:418); hyperglycemia (Disease Ontology:DOID:4195); cervical cancer (Disease Ontology:DOID:4362); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483); endophthalmitis (Disease Ontology:DOID:4692); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); pancreatitis (Disease Ontology:DOID:4989); esophageal cancer (Disease Ontology:DOID:5041); liver cirrhosis (Disease Ontology:DOID:5082); ureteral obstruction (Disease Ontology:DOID:5199); cochlear disease (Disease Ontology:DOID:5463); pneumonia (Disease Ontology:DOID:552); eye disease (Disease Ontology:DOID:5614); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); abdominal aortic aneurysm (Disease Ontology:DOID:7693); end stage renal disease (Disease Ontology:DOID:783); chronic kidney disease (Disease Ontology:DOID:784); periodontitis (Disease Ontology:DOID:824); osteoarthritis (Disease Ontology:DOID:8398); extrinsic allergic alveolitis (Disease Ontology:DOID:841); lung disease (Disease Ontology:DOID:850); chronic myeloid leukemia (Disease Ontology:DOID:8552); ulcerative colitis (Disease Ontology:DOID:8577); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); cholesteatoma (Disease Ontology:DOID:869); vascular dementia (Disease Ontology:DOID:8725); bacterial pneumonia (Disease Ontology:DOID:874); diabetic retinopathy (Disease Ontology:DOID:8947); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); systemic lupus erythematosus (Disease Ontology:DOID:9074); type 2 diabetes mellitus (Disease Ontology:DOID:9352); status asthmaticus (Disease Ontology:DOID:9362); epididymitis (Disease Ontology:DOID:9402); acute myocardial infarction (Disease Ontology:DOID:9408); steatotic liver disease (Disease Ontology:DOID:9452); multiple myeloma (Disease Ontology:DOID:9538); bronchiectasis (Disease Ontology:DOID:9563); encephalitis (Disease Ontology:DOID:9588); diabetic neuropathy (Disease Ontology:DOID:9743); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:22943); (R-HSA-201681); (R-HSA-3772470); (R-HSA-5339717)", "pathway_count": 4, "publication_count": 112, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10198061;10201374;10347172;10383463;10570958;10965128;11029007;11137016;11357136;11433302;11448771;11493532;11742004;12050670;12167704;12205098;12223464;12527209;12775774;12897152;12975309;14636582;14981260;15084453;15208637;15256437;15340161;15454084;15459103;15778503;15908424;16116452;16172602;16280981;16427602;16554443;16723543;16971168;17047023;17143291;17234765;17462603;17804805;18044981;18077588;18322270;18423204;18502762;18561248;18606139;19000841;19158955;19174556;19208630;19307728;19619488;19746449;19755491;20004982;20053636;20093360;21383061;21743455;21805521;21875946;21944579;21984209;22000855;22000856;22014570;22411803;22653731;22773843;22951645;22986341;23090970;23256519;23584533;23791946;24190977;25576301;25813380;26075259;27524201;27846572;28574171;29314611;30779550;30833945;31844290;32079700;32897882;32938616;33592498;33968037;33981976;34087483;34171305;35051231;35580925;36241641;38267222;38583005;38740881;38818662;39190957;39231208;9135132;9391096;9501980", "class_list": "", "function": "Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6 (PubMed:22000856). DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (PubMed:17143291). Inhibits the pro-apoptotic function of KREMEN1 in a Wnt-independent manner, and has anti-apoptotic activity (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Diagnostic significance of LncRNA MIAT in periodontitis and the molecular mechanisms influencing periodontal ligament fibroblasts via the miR-204-5p/DKK1 axis., [RefSeq, PubMed]; Dickkopf-1 (DKK1) drives growth and metastases in castration-resistant prostate cancer., [RefSeq, PubMed]; ERRalpha and ERRgamma coordinate expression of genes associated with Alzheimer's disease, inhibiting DKK1 to suppress tau phosphorylation., [RefSeq, PubMed]; Effect of miR-590-3p/DKK1 Axis on the Progression of Wilms' Tumour., [RefSeq, PubMed]; SIRT2-dependent DKK1 deacetylation aggravates polycystic ovary syndrome by targeting the TGF-beta1/Smad3 signaling pathway., [RefSeq, PubMed]; The Dickkopf-1 (DKK1) is a secreted inhibitor of beta-catenin-dependent Wnt signalling and was originally characterized as a tumour suppressor based on the prevailing view that Wnt signalling promotes cancer pathogenesis. Review article, [RefSeq, PubMed]; This gene encodes a member of the dickkopf family of proteins. Members of this family are secreted proteins characterized by two cysteine-rich domains that mediate protein-protein interactions. The encoded protein binds to the LRP6 co-receptor and inhibits beta-catenin-dependent Wnt signaling. This gene plays a role in embryonic development and may be important in bone formation in adults. Elevated expression of this gene has been observed in numerous human cancers and this protein may promote proliferation, invasion and growth in cancer cell lines. [provided by RefSeq, Sep 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": 2, "reported_o_glycosites": 4, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 16, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 19, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 19, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 1, "disease_count": 125, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "B2RC19", "ec_number_list": "", "go_molecular_function": "GO:0050750 low-density lipoprotein particle receptor binding;GO:0048019 receptor antagonist activity;GO:0008083 growth factor activity;GO:0039706 co-receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:0003170 heart valve development;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007611 learning or memory;GO:0010628 positive regulation of gene expression;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "O94907-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95661-1", "uniprot_id": "DIRA3_HUMAN", "mass": 25861.0, "length": 229, "protein_name": "GTP-binding protein Di-Ras3", "gene_name": "DIRAS3", "organism": "Human", "refseq_name": "GTP-binding protein Di-Ras3 precursor", "refseq_ac": "NP_004666", "gene_names_uniprotkb": "DIRAS3; ARHI; NOEY2; RHOI", "gene_names_refseq": "ARHI; DIRAS3; NOEY2", "protein_names_uniprotkb": "GTP-binding protein Di-Ras3; Distinct subgroup of the Ras family member 3; Rho-related GTP-binding protein RhoI", "protein_names_refseq": "DIRAS family, GTP-binding RAS-like 3; GTP-binding protein Di-Ras3 precursor; GTP-binding protein Di-Ras3; distinct subgroup of the Ras family member 3; ras homolog gene family, member I; rho-related GTP-binding protein RhoI", "tax_id": 9606, "disease": "", "pathway": " (hsa:9077)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11418188;12485503;12771940;29557506;29786170;31154438;31844290;32949395;37598541;38169324;38203733;38942776;9874798", "class_list": "", "function": "A link between NOEY2 loss expression and the spreading mechanism of breast cancer may possibly exist., [RefSeq, PubMed]; ARHI inhibits cell growth, and loss of its expression in cells may contribute to the development of breast and ovarian cancers, [RefSeq, PubMed]; DIRAS3 gene is imprinted, with monoallelic expression from the paternal allele., [RefSeq, PubMed]; DIRAS3 induces autophagy and enhances sensitivity to anti-autophagic therapy in KRAS-driven pancreatic and ovarian carcinomas., [RefSeq, PubMed]; DIRAS3 regulates autophagy in an endometriosis epithelial cell line., [RefSeq, PubMed]; Expression of RASSF1A, DIRAS3, and AKAP9 Genes in Thyroid Lesions: Implications for Differential Diagnosis and Prognosis of Thyroid Carcinomas. Publication Status: Online-Only, [RefSeq, PubMed]; Intrinsically Disordered Membrane Anchors of Rheb, RhoA, and DiRas3 Small GTPases: Molecular Dynamics, Membrane Organization, and Interactions., [RefSeq, PubMed]; The Role of Methylation in the CpG Island of the ARHI Promoter Region in Cancers. Review article, [RefSeq, PubMed]; This gene encodes a member of the ras superfamily. This gene is imprinted gene with monoallelic expression of the paternal allele which is associated with growth suppression. The encoded protein acts as a tumor suppressor whose function is abrogated in many ovarian and breast cancers. This protein may also play a role autophagy in certain cancer cells by regulating the autophagosome initiation complex. [provided by RefSeq, Nov 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": 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": "B3KMP3", "ec_number_list": "", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007264 small GTPase-mediated signal transduction;GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity;GO:0071514 genomic imprinting", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "O95661-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P09172-1", "uniprot_id": "DOPO_HUMAN", "mass": 69065.0, "length": 617, "protein_name": "Dopamine beta-hydroxylase", "gene_name": "DBH", "organism": "Human", "refseq_name": "dopamine beta-hydroxylase precursor", "refseq_ac": "NP_000778", "gene_names_uniprotkb": "DBH", "gene_names_refseq": "DBH; DBM; ORTHYP1", "protein_names_uniprotkb": "Dopamine beta-hydroxylase; 1.14.17.1; Dopamine beta-monooxygenase", "protein_names_refseq": "dopamine beta-hydroxylase (dopamine beta-monooxygenase); dopamine beta-hydroxylase precursor", "tax_id": 9606, "disease": "dopamine beta-hydroxylase deficiency (Disease Ontology:DOID:0090145); migraine with aura (Disease Ontology:DOID:10024); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); cardiovascular system disease (Disease Ontology:DOID:1287); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); brain ischemia (Disease Ontology:DOID:2316); hyperglycemia (Disease Ontology:DOID:4195); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1621); (R-HSA-209905)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10391209;10391210;10490716;11237011;11857564;1540578;16335952;1857555;19139490;23090970;23481700;2590185;27148966;27152332;2922261;29391424;29557506;31154438;3372503;3443096;35154160;36120985;36143905;37074911;37148523;37493923;37938771;38761858;7961964;8101641;8546710", "class_list": "", "function": "Association between 19-bp Insertion/Deletion Polymorphism of Dopamine beta-Hydroxylase and Autism Spectrum Disorder in Thai Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Association of dopamine beta-hydroxylase polymorphism rs1611115 and serum levels with psychiatric disorders in Pakistani population., [RefSeq, PubMed]; Catalyzes the hydroxylation of dopamine to noradrenaline (also known as norepinephrine), and is thus vital for regulation of these neurotransmitters., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Effect of rs1108580 of DBH and rs1006737 of CACNA1C on Cognition and Tardive Dyskinesia in a North Indian Schizophrenia Cohort., [RefSeq, PubMed]; Multifactor Dimensionality Reduction Analysis to Evaluate the Association of Dopamine Beta-Hydroxylase (DBetaH) Polymorphisms with Susceptibility to Dementia (SADEM Study)., [RefSeq, PubMed]; Right thalamic volume mediates impact of the dopamine beta-hydroxylase gene on the endowment effect., [RefSeq, PubMed]; The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. The encoded protein, expressed in neuroscretory vesicles and chromaffin granules of the adrenal medulla, catalyzes the conversion of dopamine to norepinephrine, which functions as both a hormone and as the main neurotransmitter of the sympathetic nervous system. The enzyme encoded by this gene exists exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. Mutations in this gene cause dopamine beta-hydroxylate deficiency in human patients, characterized by deficits in autonomic and cardiovascular function, including hypotension and ptosis. Polymorphisms in this gene may play a role in a variety of psychiatric disorders. [provided by RefSeq, Aug 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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 14, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q5T381;Q96AG2", "ec_number_list": "1.14.17.1", "go_molecular_function": "GO:0003824 catalytic activity;GO:0005507 copper ion binding;GO:0031418 L-ascorbic acid binding;GO:0004500 dopamine beta-monooxygenase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0034774 secretory granule lumen", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0042420 dopamine catabolic process;GO:0006589 octopamine biosynthetic process;GO:0042421 norepinephrine biosynthetic process;GO:0120162 positive regulation of cold-induced thermogenesis", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "P09172-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CJ87-1", "uniprot_id": "DU4L4_HUMAN", "mass": 44826.0, "length": 422, "protein_name": "Double homeobox protein 4-like protein 4", "gene_name": "DUX4L4", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "DUX4L4", "gene_names_refseq": "", "protein_names_uniprotkb": "Double homeobox protein 4-like protein 4", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "28218747;30315122;35051231;38253038", "class_list": "", "function": "May be involved in transcriptional regulation., [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": 0, "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:0000977 RNA polymerase II transcription 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", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "P0CJ87-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CJ89-1", "uniprot_id": "DU4L6_HUMAN", "mass": 44926.0, "length": 424, "protein_name": "Double homeobox protein 4-like protein 6", "gene_name": "DUX4L6", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "DUX4L6", "gene_names_refseq": "", "protein_names_uniprotkb": "Double homeobox protein 4-like protein 6", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "May be involved in transcriptional regulation., [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:0000977 RNA polymerase II transcription 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", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0CJ89-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P28562-1", "uniprot_id": "DUS1_HUMAN", "mass": 39298.0, "length": 367, "protein_name": "Dual specificity protein phosphatase 1", "gene_name": "DUSP1", "organism": "Human", "refseq_name": "dual specificity protein phosphatase 1", "refseq_ac": "NP_004408", "gene_names_uniprotkb": "DUSP1; CL100; MKP1; PTPN10; VH1", "gene_names_refseq": "CL100; DUSP1; HVH1; MKP-1; MKP1; PTPN10", "protein_names_uniprotkb": "Dual specificity protein phosphatase 1; 3.1.3.16; 3.1.3.48; Dual specificity protein phosphatase hVH1; MAP kinase phosphatase 1; MKP-1; Mitogen-activated protein kinase phosphatase 1; Protein-tyrosine phosphatase CL100", "protein_names_refseq": "CL 100; MAP kinase phosphatase 1; dual specificity protein phosphatase 1; dual specificity protein phosphatase hVH1; mitogen-activated protein kinase phosphatase 1; protein-tyrosine phosphatase CL100; serine/threonine specific protein phosphatase", "tax_id": 9606, "disease": "diabetic encephalopathy (Disease Ontology:DOID:0050850); prostate cancer (Disease Ontology:DOID:10283); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); Huntington's disease (Disease Ontology:DOID:12858); major depressive disorder (Disease Ontology:DOID:1470); breast cancer (Disease Ontology:DOID:1612); squamous cell carcinoma (Disease Ontology:DOID:1749); transient cerebral ischemia (Disease Ontology:DOID:224); ovarian carcinoma (Disease Ontology:DOID:4001); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); pancreatitis (Disease Ontology:DOID:4989); psoriasis (Disease Ontology:DOID:8893); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:1843); (R-HSA-112409); (R-HSA-5675221)", "pathway_count": 3, "publication_count": 86, "publication_id_list": "10206983;10415025;10490027;10617468;10702794;10757792;12583813;1406996;14724641;15664191;15851477;16286470;16892053;17097642;17208316;17724343;18294816;18332145;18515281;18547165;19091743;19158341;20112406;20332238;20463170;21779496;22569528;22730326;23105109;24244156;24666281;25314968;25418920;25469497;25548167;25576301;25597358;25799226;26154972;26992070;27846572;27920218;28228285;28832583;28834231;29052270;29393594;29557506;29786170;30315122;30429286;30484775;30524438;31154438;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33717175;33968037;33981976;34087483;34405274;34509645;35051231;35580925;36010968;36215666;36241641;38531054;38667302;38951654;39067836;39138666;39341782;8106404", "class_list": "", "function": "Arntl-induced upregulation of DUSP1 inhibits tumor progression in esophageal squamous cell carcinoma by inactivating ERK signaling., [RefSeq, PubMed]; CCR7/DUSP1 signaling Axis mediates iCAF to regulates head and neck squamous cell carcinoma growth. Erratum:[Cell Signal. 2025 Jul;131:111768. doi: 10.1016/j.cellsig.2025.111768. PMID: 40185659], [RefSeq, PubMed]; DUSP1 and SOX2 expression determine squamous cell carcinoma of the salivary gland progression. Publication Status: Online-Only, [RefSeq, PubMed]; Dual specificity phosphatase that dephosphorylates MAP kinase MAPK1/ERK2 on both 'Thr-183' and 'Tyr-185', regulating its activity during the meiotic cell cycle., [UniProtKB, UniProtKB]; Enhanced MAPK signaling induced by CSF3R mutants confers dependence to DUSP1 for leukemic transformation., [RefSeq, PubMed]; The protein encoded by this gene is a phosphatase with dual specificity for tyrosine and threonine. The encoded protein can dephosphorylate MAP kinase MAPK1/ERK2, which results in its involvement in several cellular processes. This protein appears to play an important role in the human cellular response to environmental stress as well as in the negative regulation of cellular proliferation. Finally, the encoded protein can make some solid tumors resistant to both chemotherapy and radiotherapy, making it a target for cancer therapy. [provided by RefSeq, Aug 2017]., [RefSeq]; Upregulation of hsa-miR-141-3p promotes uterine cervical carcinoma progression via targeting dual-specificity protein phosphatase 1. 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": 14, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 15, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DQL9;Q2V508", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.21;3.1.3.18;3.1.3.-;3.1.3.5;3.1.3.2;2.7.11.24;2.7.10.1;3.1.3.67;3.1.3.53;3.1.3.52;3.1.3.27;3.1.3.86;3.1.3.36;3.1.3.74", "go_molecular_function": "GO:0019838 growth factor binding;GO:0051019 mitogen-activated protein kinase binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0004721 phosphoprotein phosphatase activity;GO:0008138 protein tyrosine/serine/threonine phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:1990869 cellular response to chemokine;GO:0090027 negative regulation of monocyte chemotaxis;GO:0007162 negative regulation of cell adhesion;GO:0008285 negative regulation of cell population proliferation;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "P28562-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51530-1", "uniprot_id": "DNA2_HUMAN", "mass": 120415.0, "length": 1060, "protein_name": "DNA replication ATP-dependent helicase/nuclease DNA2", "gene_name": "DNA2", "organism": "Human", "refseq_name": "DNA replication ATP-dependent helicase/nuclease DNA2", "refseq_ac": "NP_001073918", "gene_names_uniprotkb": "DNA2; DNA2L; KIAA0083", "gene_names_refseq": "DNA2L; DNA2; RTS4; hDNA2", "protein_names_uniprotkb": "DNA replication ATP-dependent helicase/nuclease DNA2; DNA 5'-3' helicase DNA2; DNA replication ATP-dependent helicase-like homolog; hDNA2", "protein_names_refseq": "DNA replication ATP-dependent helicase-like homolog; DNA replication ATP-dependent helicase/nuclease DNA2; DNA replication helicase 2 homolog; DNA2 DNA replication helicase 2-like; DNA2-like helicase", "tax_id": 9606, "disease": "Seckel syndrome (Disease Ontology:DOID:0050569); stroke (Disease Ontology:DOID:0051061); familial erythrocytosis 1 (Disease Ontology:DOID:0060652); isolated growth hormone deficiency type IA (Disease Ontology:DOID:0060873); thrombosis (Disease Ontology:DOID:0060903); myeloid neoplasm (Disease Ontology:DOID:0070004); Seckel syndrome 8 (Disease Ontology:DOID:0070009); colorectal carcinoma (Disease Ontology:DOID:0080199); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 (Disease Ontology:DOID:0111519); stomach cancer (Disease Ontology:DOID:10534); portal hypertension (Disease Ontology:DOID:10762); esophageal carcinoma (Disease Ontology:DOID:1107); heart disease (Disease Ontology:DOID:114); Budd-Chiari syndrome (Disease Ontology:DOID:11512); primary biliary cholangitis (Disease Ontology:DOID:12236); leukemia (Disease Ontology:DOID:1240); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); disease of cellular proliferation (Disease Ontology:DOID:14566); limited scleroderma (Disease Ontology:DOID:1577); cancer (Disease Ontology:DOID:162); hyperuricemia (Disease Ontology:DOID:1920); atherosclerosis (Disease Ontology:DOID:1936); colon cancer (Disease Ontology:DOID:219); essential thrombocythemia (Disease Ontology:DOID:2224); myeloproliferative neoplasm (Disease Ontology:DOID:2226); thrombocytosis (Disease Ontology:DOID:2228); transient cerebral ischemia (Disease Ontology:DOID:224); colon adenocarcinoma (Disease Ontology:DOID:234); hematologic cancer (Disease Ontology:DOID:2531); Bloom syndrome (Disease Ontology:DOID:2717); liver cancer (Disease Ontology:DOID:3571); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung carcinoma (Disease Ontology:DOID:3905); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); bacterial gastritis (Disease Ontology:DOID:4033); myelofibrosis (Disease Ontology:DOID:4971); liver cirrhosis (Disease Ontology:DOID:5082); retinal detachment (Disease Ontology:DOID:5327); Werner syndrome (Disease Ontology:DOID:5688); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); mitochondrial myopathy (Disease Ontology:DOID:699); ankylosing spondylitis (Disease Ontology:DOID:7147); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); polycythemia vera (Disease Ontology:DOID:8997); acute myeloid leukemia (Disease Ontology:DOID:9119); nasopharynx carcinoma (Disease Ontology:DOID:9261); obesity (Disease Ontology:DOID:9970); Rothmund-Thomson syndrome type 4 (MONDO:MONDO:0970950)", "pathway": " (hsa:1763); (R-HSA-174437); (R-HSA-5685938); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693554); (R-HSA-5693568); (R-HSA-5693579); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6804756); (R-HSA-69166); (R-HSA-69473); (R-HSA-9701192); (R-HSA-9704331); (R-HSA-9704646); (R-HSA-9709570); (R-HSA-9709603)", "pathway_count": 18, "publication_count": 274, "publication_id_list": "10.1101/2023.09.13.557529;10212258;10373512;10435622;10438626;10500146;10551859;10570149;10570174;10604467;10673500;10673501;10710310;10733923;10744977;10801132;10856253;10859164;10884347;10921897;11006276;11080452;11139606;11237011;11239457;11301010;11376695;11390642;11447225;11459987;11473323;11511362;11546806;11551930;11571269;11698410;11724925;11740489;11751635;11780126;11832208;12064478;12139939;12152085;12191481;12226092;12228710;12370410;12379650;12393879;12545175;12578958;12686547;12702766;12721304;12750383;12791985;12851404;12912992;12914926;14527420;14576433;14702041;14716019;14734547;15053879;15189136;15190204;15359272;15485900;15665856;15703751;15707391;15866171;15916957;16148040;16153896;16322561;16327781;16337601;16360315;16530042;16595799;16595800;16793542;16885023;17108107;17114795;17200668;17200671;17200672;17289582;17349958;17420451;17515903;17575048;17591690;17928296;17962301;17965729;17996710;17996711;18171670;18317453;18490454;18539610;18541667;18593712;18757400;18805091;18923075;18957201;18971343;18995831;19074197;19121998;19268590;19357644;19369211;19419957;19487465;19584259;19596236;19609323;19941829;19965871;20019387;20154705;20207730;20233725;20551483;20729832;20729858;20729859;20871615;20871616;20959462;20965415;21052091;21240188;21263215;21317932;21325134;21335604;21520333;21565612;21572043;21659603;21680713;21777809;21804533;22021381;22024395;22194698;22231403;22570407;22570476;22593209;22635276;22645308;22661229;22661230;22792074;22977173;23000554;23149936;23345434;23352259;23468639;23485397;23509288;23604072;23676219;23686288;23731732;23754376;23810717;24013206;24076221;24141787;24145406;24371268;24389050;24485656;24509834;24831703;24874608;25113031;25122754;25418920;25558984;25576301;25659039;25880248;26145171;26154972;26811146;26992070;27600516;27846572;27849570;27893789;27899578;27920218;28063628;28089683;28158555;28218747;28228285;28240985;28319063;28514659;28649982;28832583;28834231;28904123;29165669;29242379;29393594;29508533;29608566;29632046;30289697;30311374;30315122;31045292;31217245;31478350;31586400;31636395;31757951;31844290;32157095;32265295;32350084;32357974;32387766;32502341;32732220;32897882;32938616;32983136;33195396;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33978741;33981976;34087483;34171305;34440403;34932366;35051231;35561310;35580925;36010968;36172813;36241641;37055165;37526271;38331987;38721777;39284827;7711022;7876218;8131753;8702565;9705271;9837724;9925639", "class_list": "", "function": "EXO1 and DNA2-mediated ssDNA gap expansion is essential for ATR activation and to maintain viability in BRCA1-deficient cells., [RefSeq, PubMed]; FANCD2 and RAD51 recombinase directly inhibit DNA2 nuclease at stalled replication forks and FANCD2 acts as a novel RAD51 mediator in strand exchange to promote genome stability., [RefSeq, PubMed]; HDna2 showed ATPase/helicase activity and 5'-3' exo-endonuclease as well as 3'-5' exo-endonuclease activity, indicating that its biochemical properties are very similar to yeast DNA2. Publication Status: Online-Only, [RefSeq, PubMed]; Key enzyme involved in DNA replication and DNA repair in nucleus and mitochondrion. Involved in Okazaki fragments processing by cleaving long flaps that escape FEN1: flaps that are longer than 27 nucleotides are coated by replication protein A complex (RPA), leading to recruit DNA2 which cleaves the flap until it is too short to bind RPA and becomes a substrate for FEN1. Also involved in 5'-end resection of DNA during double-strand break (DSB) repair: recruited by BLM and mediates the cleavage of 5'-ssDNA, while the 3'-ssDNA cleavage is prevented by the presence of RPA. Also involved in DNA replication checkpoint independently of Okazaki fragments processing. Possesses different enzymatic activities, such as single-stranded DNA (ssDNA)-dependent ATPase, 5'-3' helicase and endonuclease activities. While the ATPase and endonuclease activities are well-defined and play a key role in Okazaki fragments processing and DSB repair, the 5'-3' DNA helicase activity is subject to debate. According to various reports, the helicase activity is absent to weak and its function remains largely unclear. Helicase activity may promote the motion of DNA2 on the flap, helping the nuclease function., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Key enzyme involved in DNA replication and DNA repair. Involved in Okazaki fragments processing by cleaving long flaps that escape FEN1: flaps that are longer than 27 nucleotides are coated by replication protein A complex (RPA), leading to recruit DNA2 which cleaves the flap until it is too short to bind RPA and becomes a substrate for FEN1. Also involved in 5'-end resection of DNA during double-strand break (DSB) repair by mediating the cleavage of 5'-ssDNA., [UniProtKB, UniProtKB]; Targeting DNA2 overcomes metabolic reprogramming in multiple myeloma. Publication Status: Online-Only, [RefSeq, PubMed]; The purified human Dna2 enzyme contains intrinsic endonuclease and DNA-dependent ATPase activities, but is devoid of detectable DNA helicase activity. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]., [RefSeq]; USP50 suppresses alternative RecQ helicase use and deleterious DNA2 activity during replication. 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": 2, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 9606, "biomarker_type": "", "glycan_count": 1, "disease_count": 52, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q2NKM1;Q5TC49;Q5TC50;Q6P455;Q6PI80;Q7Z6H9;Q8N346", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;7.6.2.1;2.3.2.27;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0042645 mitochondrial nucleoid", "go_biological_process": "GO:0000076 DNA replication checkpoint signaling;GO:0032201 telomere maintenance via semi-conservative replication;GO:0006284 base-excision repair;GO:0000723 telomere maintenance;GO:0006260 DNA replication", "synthesized_glycan_count": 0, "hit_score": 27.7, "record_id": "P51530-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P56178-1", "uniprot_id": "DLX5_HUMAN", "mass": 31540.0, "length": 289, "protein_name": "Homeobox protein DLX-5", "gene_name": "DLX5", "organism": "Human", "refseq_name": "homeobox protein DLX-5", "refseq_ac": "NP_005212", "gene_names_uniprotkb": "DLX5", "gene_names_refseq": "DLX5; SHFM1D; SHFM1", "protein_names_uniprotkb": "Homeobox protein DLX-5", "protein_names_refseq": "distal-less homeo box 5; homeobox protein DLX-5; split hand/foot malformation type 1 with sensorineural hearing loss", "tax_id": 9606, "disease": "split hand-foot malformation 1 (Disease Ontology:DOID:0090021); split hand-foot malformation 1 with sensorineural hearing loss (Disease Ontology:DOID:0090024)", "pathway": " (hsa:1749); (R-HSA-8939902); (R-HSA-9834899); (R-HSA-9938206)", "pathway_count": 4, "publication_count": 44, "publication_id_list": "10215629;10572046;10911365;12000792;12145306;12738770;12923053;15703179;16115867;16421188;16728642;17786208;18056716;18541707;19497851;21931630;22121204;22422618;23403054;23943595;25260729;26091038;26758079;26778333;29557506;30429286;31154438;31844290;32488085;32856377;33298915;33592498;34171305;34283652;34370013;34705345;35051231;35318648;35580925;36010968;37776184;7907794;8895516;9111364", "class_list": "", "function": "Activation of bivalent factor DLX5 cooperates with master regulator TP63 to promote squamous cell carcinoma., [RefSeq, PubMed]; Dlx5 promotes cancer progression through regulation of CCND1 in oral squamous cell carcinoma (OSCC)., [RefSeq, PubMed]; Identification and functional analysis of changes to the ox-LDL-induced microRNA-124-3p/DLX5 axis in vascular smooth muscle cells., [RefSeq, PubMed]; In mice, biological and biochemical observations suggest that functional antagonism through heterodimer formation is a mechanism for regulating the transcriptional actions of Msx and Dlx homeoproteins., [RefSeq, PubMed]; Inhibition of microRNA-27b-3p relieves osteoarthritis pain via regulation of KDM4B-dependent DLX5., [RefSeq, PubMed]; Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families., [RefSeq, PubMed]; This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive regulator of both chondrogenesis and chondrocyte hypertrophy in the endochondral skeleton. Binds to the homeodomain-response element of the ALPL and SP7 promoter. Binds to the MYC promoter. Requires the 5'-TAATTA-3' consensus sequence for DNA-binding., [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": 4, "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": "B7Z4P3;Q9UPL1", "ec_number_list": "", "go_molecular_function": "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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0071837 HMG box domain 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:0007399 nervous system development;GO:0008283 cell population proliferation;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P56178-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q1HG44-1", "uniprot_id": "DOXA2_HUMAN", "mass": 34787.0, "length": 320, "protein_name": "Dual oxidase maturation factor 2", "gene_name": "DUOXA2", "organism": "Human", "refseq_name": "dual oxidase maturation factor 2", "refseq_ac": "NP_997464", "gene_names_uniprotkb": "DUOXA2", "gene_names_refseq": "DUOXA2; SIMNIPHOM; TDH5", "protein_names_uniprotkb": "Dual oxidase maturation factor 2; Dual oxidase activator 2", "protein_names_refseq": "dual oxidase maturation factor 2", "tax_id": 9606, "disease": "thyroid dyshormonogenesis 5 (Disease Ontology:DOID:0112184)", "pathway": " (hsa:405753); (R-HSA-209968)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "11514595;15561711;15972824;16651268;16910871;1722671;17374849;18042646;18700007;19144650;19339556;21321110;24715725;25675383;25761904;29789417;31044655;31513783;32425884;33968037;35051231;36284347;37099597;39126279;67547;8806637", "class_list": "", "function": "Co-expression of DUOXA2, an ER-resident transmembrane protein, allows ER-to-Golgi transition, maturation, and translocation to the plasma membrane of functional DUOX2 in a heterologous system, [RefSeq, PubMed]; DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism. Publication Status: Online-Only, [RefSeq, PubMed]; DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom., [RefSeq, PubMed]; DUOXA2 allows rapid ER exit of folded DUOX2 or enhanced degradation of mutant DUOX2 proteins not competent for ER exit., [RefSeq, PubMed]; H2O2 produced by the Duox2/DuoxA2 cell surface enzymatic complex could provoke potential mutagenic DNA damage., [RefSeq, PubMed]; Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells., [RefSeq, PubMed]; Required for the maturation and transport of functional DUOX2 from the endoplasmic reticulum to the plasma membrane (PubMed:16651268). Recruits DUOX2 to the apical cell membrane (PubMed:39126279)., [UniProtKB, PubMed, PubMed]; Results provide evidence for the critical role of DUOXA2 in thyroid hormonogenesis. Biallelic DUOXA2 mutations are a novel genetic event in permanent congenital hypothroidism., [RefSeq, PubMed]; The five gene transcripts (aldolase B, elafin, MST-1, simNIPhom and SLC6A14) were changed in patients with ulcerative colitis, and were related to the disease activity. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid dyshormonogenesis 5.[provided by RefSeq, Feb 2010]., [RefSeq]; Up-regulation and sustained activation of Stat1 are essential for interferon-gamma (IFN-gamma)-induced dual oxidase 2 (Duox2) and dual oxidase A2 (DuoxA2) expression in human pancreatic cancer cell lines., [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": 3, "reported_glycation": 0, "reported_snv": 14, "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": "B2RPI9;H0YNQ6", "ec_number_list": "", "go_molecular_function": "GO:0019899 enzyme binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031252 cell leading edge", "go_biological_process": "GO:0010729 positive regulation of hydrogen peroxide biosynthetic process;GO:0015031 protein transport;GO:0072659 protein localization to plasma membrane;GO:0008104 intracellular protein localization;GO:0050665 hydrogen peroxide biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q1HG44-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5JWR5-1", "uniprot_id": "DOP1A_HUMAN", "mass": 277355.0, "length": 2465, "protein_name": "Protein DOP1A", "gene_name": "DOP1A", "organism": "Human", "refseq_name": "protein DOP1A isoform a", "refseq_ac": "NP_055833", "gene_names_uniprotkb": "DOP1A; DOPEY1; KIAA1117", "gene_names_refseq": "DOP1A; DOP1; DOPEY1; KIAA1117; dJ202D23.2", "protein_names_uniprotkb": "Protein DOP1A", "protein_names_refseq": "dopey family member 1; homolog of yeast DOP1; protein DOP1A isoform a; protein DOP1A; protein dopey-1", "tax_id": 9606, "disease": "Down syndrome (Disease Ontology:DOID:14250)", "pathway": " (hsa:23033)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;16959974;19651622;22299025;23301498;23481700;25424701;25576301;25645385;26375851;26811146;26992070;27846572;27920218;28218747;28228285;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29557506;30315122;30379171;30410026;30429286;30779550;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32983136;33298915;33392160;33592498;33717175;33936100;34357683;34509645;35580925;36010968;36215666;37938771;38253038;38838015", "class_list": "", "function": "Assessment of REST-N50 and DOPEY1v2 may prove useful in diagnostic blood tests of breast cancer. REST-N50 shows a high potential as a blood biomarker for evaluating the effectiveness of therapy in the neoadjuvant setting., [RefSeq, PubMed]; May be involved in protein traffic between late Golgi and early endosomes., [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": 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": 51, "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": "Q86XV1;Q9H5J5;Q9NSL4;Q9UPN5;Q9Y414", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005768 endosome;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005798 Golgi-associated vesicle", "go_biological_process": "GO:0015031 protein transport;GO:0006895 Golgi to endosome transport;GO:0007029 endoplasmic reticulum organization", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q5JWR5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PK57-1", "uniprot_id": "DMP34_HUMAN", "mass": 11596.0, "length": 102, "protein_name": "Putative GED domain-containing protein DNM1P34", "gene_name": "DNM1P34", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "DNM1P34", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative GED domain-containing protein DNM1P34; DNM1 pseudogene 34", "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:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q6PK57-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UX07-1", "uniprot_id": "DHR13_HUMAN", "mass": 40849.0, "length": 377, "protein_name": "Dehydrogenase/reductase SDR family member 13", "gene_name": "DHRS13", "organism": "Human", "refseq_name": "dehydrogenase/reductase SDR family member 13 precursor", "refseq_ac": "NP_653284", "gene_names_uniprotkb": "DHRS13; PRO853; SDR7C5", "gene_names_refseq": "DHRS13; SDR7C5", "protein_names_uniprotkb": "Dehydrogenase/reductase SDR family member 13; 1.1.-.-; Protein SDR7C5; Short chain dehydrogenase/reductase family 7C member 5", "protein_names_refseq": "dehydrogenase/reductase (SDR family) member 13; dehydrogenase/reductase SDR family member 13 precursor; short chain dehydrogenase/reductase family 7C member 5", "tax_id": 9606, "disease": "Leber congenital amaurosis (Disease Ontology:DOID:14791)", "pathway": " (hsa:147015)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "12975309;19027726;23481700;24715725;25802875;26154972;27846572;27920218;28904123;29242379;31844290;32157095;32265295;32350084;32502341;32938616;33141586;33298915;33912179;33936100;34171305;34211107;35051231;35251023;35580925", "class_list": "", "function": "Putative oxidoreductase., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DJC5;Q96BH7", "ec_number_list": "", "go_molecular_function": "GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q6UX07-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6W0C5-1", "uniprot_id": "DPPA3_HUMAN", "mass": 17851.0, "length": 159, "protein_name": "Developmental pluripotency-associated protein 3", "gene_name": "DPPA3", "organism": "Human", "refseq_name": "developmental pluripotency-associated protein 3", "refseq_ac": "NP_954980", "gene_names_uniprotkb": "DPPA3; STELLAR", "gene_names_refseq": "DPPA3; Pgc7; STELLA", "protein_names_uniprotkb": "Developmental pluripotency-associated protein 3; Stella-related protein", "protein_names_refseq": "developmental pluripotency-associated protein 3; stella-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:359787); (R-HSA-9821002)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "11900980;14654002;14684992;14990856;15018652;17320160;17320161;17320163;17363312;17713478;17851529;18003914;21421998;22420752;27681417;27794480;31018966;35314832;38898124", "class_list": "", "function": "In mice, a targeted mutation results in reduced female fertility and may function as a mammalian maternal effect gene., [RefSeq, PubMed]; In mice, knockout experiments show this gene may be a maternal factor in cleavage stage embryogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; In mice, this gene may play a role in oogenesis and primordial germ cell development., [RefSeq, PubMed]; Primordial germ cell (PGCs)-specific protein involved in epigenetic chromatin reprogramming in the zygote following fertilization (PubMed:35314832). In zygotes, DNA demethylation occurs selectively in the paternal pronucleus before the first cell division, while the adjacent maternal pronucleus and certain paternally-imprinted loci are protected from this process (By similarity). Participates in protection of DNA methylation in the maternal pronucleus by preventing conversion of 5mC to 5hmC: specifically recognizes and binds histone H3 dimethylated at 'Lys-9' (H3K9me2) on maternal genome, and protects maternal genome from TET3-mediated conversion to 5hmC and subsequent DNA demethylation (By similarity). Does not bind paternal chromatin, which is mainly packed into protamine and does not contain much H3K9me2 mark (By similarity). Also protects imprinted loci that are marked with H3K9me2 in mature sperm from DNA demethylation in early embryogenesis (By similarity). May be important for the totipotent/pluripotent states continuing through preimplantation development (By similarity). Also involved in chromatin condensation in oocytogenesis (By similarity)., [UniProtKB, PubMed, UniProtKB]; Stella employs a multilayered mechanism to achieve robust UHRF1 inhibition, which involves the dissociation from chromatin and cytoplasmic sequestration of UHRF1., [RefSeq, PubMed]; Structure of human DPPA3 bound to the UHRF1 PHD finger reveals its functional and structural differences from mouse DPPA3. Publication Status: Online-Only, [RefSeq, PubMed]; Super-enhancers at the Nanog locus differentially regulate neighboring pluripotency-associated genes, in particular, DPPA3., [RefSeq, PubMed]; This gene encodes a protein that in mice may function as a maternal factor during the preimplantation stage of development. In mice, this gene may play a role in transcriptional repression, cell division, and maintenance of cell pluripotentiality. In humans, related intronless loci are located on chromosomes 14 and X. [provided by RefSeq, Jul 2008]., [RefSeq]; We conclude that heterogeneous population of the HEK293T cells might be easily shifted towards expression of the pluripotency markers by ectopic expression of the SON factors or by growth in serum depleted media., [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": "Q0P5U3;Q6JZS6", "ec_number_list": "", "go_molecular_function": "GO:0062072 histone H3K9me2/3 reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0001939 female pronucleus", "go_biological_process": "GO:0044726 epigenetic programing of female pronucleus", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q6W0C5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZMT9-1", "uniprot_id": "DTHD1_HUMAN", "mass": 88329.0, "length": 781, "protein_name": "Death domain-containing protein 1", "gene_name": "DTHD1", "organism": "Human", "refseq_name": "death domain-containing protein 1 isoform 2", "refseq_ac": "NP_001130008", "gene_names_uniprotkb": "DTHD1", "gene_names_refseq": "DTHD1", "protein_names_uniprotkb": "Death domain-containing protein 1", "protein_names_refseq": "death domain-containing protein 1 isoform 2; death domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:401124)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;28034876;31844290;36284347", "class_list": "", "function": "Human genome-wide gene expression profile assay was used to screen the targets of miR-3131. The overexpressed miR-3131 could lead to a significant decrease of DTHD1 and XAF1 mRNA level., [RefSeq, PubMed]; This gene encodes a protein which contains a death domain. Death domain-containing proteins function in signaling pathways and formation of signaling complexes, as well as the apoptosis pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 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": 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": "B2RXK4;B4E2N7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6ZMT9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N4W6-1", "uniprot_id": "DJC22_HUMAN", "mass": 38086.0, "length": 341, "protein_name": "DnaJ homolog subfamily C member 22", "gene_name": "DNAJC22", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 22", "refseq_ac": "NP_001291873", "gene_names_uniprotkb": "DNAJC22", "gene_names_refseq": "DNAJC22; wus", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 22", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 22; dnaJ homolog subfamily C member 22; wurst homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:79962)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "24715725;29393594;29557506;29786170;29789417;31844290;32938616;32983136;33968037;33981976;34171305;35193931;35318648;35580925;36010968;36241641", "class_list": "", "function": "May function as a co-chaperone., [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": "B3KP54", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q8N4W6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NHS0-1", "uniprot_id": "DNJB8_HUMAN", "mass": 25686.0, "length": 232, "protein_name": "DnaJ homolog subfamily B member 8", "gene_name": "DNAJB8", "organism": "Human", "refseq_name": "dnaJ homolog subfamily B member 8", "refseq_ac": "NP_699161", "gene_names_uniprotkb": "DNAJB8", "gene_names_refseq": "CT156; DJ6; DNAJB8", "protein_names_uniprotkb": "DnaJ homolog subfamily B member 8", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily B, member 8; dnaJ homolog subfamily B member 8; testicular tissue protein Li 56", "tax_id": 9606, "disease": "autosomal dominant limb-girdle muscular dystrophy type 1 (Disease Ontology:DOID:0110305)", "pathway": " (hsa:165721)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "20159555;22552285;29557506;31154438;31848261;32502341;32753678;33141586;33574241;34429451;35165262;38508190;39894887", "class_list": "", "function": "Cancer stem-like cell (CSC) maintenance and that it offers a candidate for CSC-targeting immunotherapy in renal cell carcinoma, [RefSeq, PubMed]; DNAJB6b and DNAJB8 are superior suppressors of aggregation and toxicity of disease-associated polyglutamine proteins., [RefSeq, PubMed]; DNAJB8 in small extracellular vesicles promotes Oxaliplatin resistance through TP53/MDR1 pathway in colon cancer. Publication Status: Online-Only, [RefSeq, PubMed]; DNAJB8 oligomerization is mediated by an aromatic-rich motif that is dispensable for substrate activity., [RefSeq, PubMed]; Efficient suppressor of aggregation and toxicity of disease-associated polyglutamine proteins., [UniProtKB, PubMed]; Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth. Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory inter-domain interactions influence Hsp70 recruitment to the DnaJB8 chaperone. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the DNAJ/HSP40 family of proteins that regulate chaperone activity. This family member suppresses aggregation and toxicity of polyglutamine proteins, and the C-terminal tail is essential for this activity. It has been implicated as a cancer-testis antigen and as a cancer stem-like cell antigen involved in renal cell carcinoma. [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": 1, "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": "B3KWV7", "ec_number_list": "", "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0051087 protein-folding chaperone binding;GO:0030544 Hsp70 protein binding;GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0090084 negative regulation of inclusion body assembly;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8NHS0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TDM6-1", "uniprot_id": "DLG5_HUMAN", "mass": 213868.0, "length": 1919, "protein_name": "Disks large homolog 5", "gene_name": "DLG5", "organism": "Human", "refseq_name": "disks large homolog 5", "refseq_ac": "NP_004738", "gene_names_uniprotkb": "DLG5; KIAA0583; PDLG", "gene_names_refseq": "DLG5; LP-DLG; P-DLG5; PDLG; YUVOB", "protein_names_uniprotkb": "Disks large homolog 5; Discs large protein P-dlg; Placenta and prostate DLG", "protein_names_refseq": "discs large protein LP-DLG; discs large protein P-dlg; discs, large homolog 5; disks large homolog 5; large type of P-DLG; placenta and prostate DLG", "tax_id": 9606, "disease": "immunodeficiency 130 with HPV-related verrucosis (Disease Ontology:DOID:0061171); COVID-19 (Disease Ontology:DOID:0080600); Alzheimer's disease (Disease Ontology:DOID:10652); high grade glioma (Disease Ontology:DOID:3070); periodontal disease (Disease Ontology:DOID:3388); lung non-small cell carcinoma (Disease Ontology:DOID:3908); Yuksel-Vogel-Bauer syndrome (MONDO:MONDO:0958205)", "pathway": " (hsa:9231); (R-HSA-9013420); (R-HSA-9013424); (R-HSA-9696264); (R-HSA-9696270); (R-HSA-9696273)", "pathway_count": 6, "publication_count": 110, "publication_id_list": "10.1038/emboj.2013.79;10664463;11237011;11459829;11784792;11876824;11940653;12244061;12657639;12842009;14521508;14732713;15350535;15556869;15738000;16481321;17081983;17322306;17355222;17504809;17924679;18669648;18767875;18987736;18996843;19064640;19103606;19136556;19413330;19651622;19664994;19664995;20068231;20547754;20811643;21406692;21508312;21565175;22028470;22339630;23186163;23481700;23584533;24690281;24715725;25576301;25645385;25888806;26375851;26598620;26969432;26992070;28087714;28169360;28657654;28832583;28904123;29242379;29393594;29508533;29557506;29786170;30266825;30315122;30379171;30791088;31492838;31844290;31871319;32157095;32488085;32502341;32574038;32631816;32737221;32897882;32938616;33214551;33298915;33537174;33592498;33968037;33981976;34087483;34171305;34185709;34561969;34846842;34984467;35051231;35132862;35254053;35289036;35318648;35580925;35638431;36010968;36241641;36284347;37001186;37938771;38253038;38665916;39302247;39531497;39894887;8649376;9531558;9738934;9778532", "class_list": "", "function": "A double-edged sword: DLG5 in diseases. Review article, [RefSeq, PubMed]; Acts as a regulator of the Hippo signaling pathway (PubMed:28087714, PubMed:28169360). Negatively regulates the Hippo signaling pathway by mediating the interaction of MARK3 with STK3/4, bringing them together to promote MARK3-dependent hyperphosphorylation and inactivation of STK3 kinase activity toward LATS1 (PubMed:28087714). Positively regulates the Hippo signaling pathway by mediating the interaction of SCRIB with STK4/MST1 and LATS1 which is important for the activation of the Hippo signaling pathway. Involved in regulating cell proliferation, maintenance of epithelial polarity, epithelial-mesenchymal transition (EMT), cell migration and invasion (PubMed:28169360). Plays an important role in dendritic spine formation and synaptogenesis in cortical neurons; regulates synaptogenesis by enhancing the cell surface localization of N-cadherin. Acts as a positive regulator of hedgehog (Hh) signaling pathway. Plays a critical role in the early point of the SMO activity cycle by interacting with SMO at the ciliary base to induce the accumulation of KIF7 and GLI2 at the ciliary tip for GLI2 activation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Findings suggest that lp-dlg/KIAA0583 is a novel scaffolding protein that can link the vinexin-vinculin complex and beta-catenin at sites of cell-cell contact, [RefSeq, PubMed]; Recent Hints on the Dual Role of Discs Large MAGUK Scaffold Protein 5 in Cancers and in Hepatocellular Carcinoma. Review article, [RefSeq, PubMed]; The scaffolding protein DLG5 promotes glioblastoma growth by controlling Sonic Hedgehog signaling in tumor stem cells., [RefSeq, PubMed]; This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature 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": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 53, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 7, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A6H8Y3;Q149N1;Q5T1H7;Q5T1H8;Q6DKG3;Q86WC0;Q8TDM7;Q9UE73;Q9Y4E3", "ec_number_list": "", "go_molecular_function": "GO:0008092 cytoskeletal protein binding;GO:0008013 beta-catenin binding;GO:0030159 signaling receptor complex adaptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0014069 postsynaptic density", "go_biological_process": "GO:0045880 positive regulation of smoothened signaling pathway;GO:0007165 signal transduction;GO:0008285 negative regulation of cell population proliferation;GO:0035556 intracellular signal transduction;GO:0030336 negative regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "Q8TDM6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WXX5-1", "uniprot_id": "DNJC9_HUMAN", "mass": 29910.0, "length": 260, "protein_name": "DnaJ homolog subfamily C member 9", "gene_name": "DNAJC9", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 9", "refseq_ac": "NP_056005", "gene_names_uniprotkb": "DNAJC9", "gene_names_refseq": "DNAJC9; HDJC9; JDD1; SB73", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 9; DnaJ protein SB73; HDJC9", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 9; DnaJ protein SB73; dnaJ homolog subfamily C member 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:23234)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "17182002;17287340;18669648;19651622;19690332;20068231;21531385;23186163;23301498;24275569;25576301;26992070;27862975;27920218;28228285;28832583;28904123;29242379;29557506;30315122;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32938616;32983136;33214551;33298915;33392160;33592498;33717175;33857403;33912179;33968037;33981976;34019948;34171305;34229054;34509645;35051231;35154160;35580925;35705054;36010968;36215666;36241641;36581221;37217939", "class_list": "", "function": "ANXA7, PPP3CB, DNAJC9, and ZMYND17 genes are potential candidate genes for schizophrenia, especially in patients with deficits in sustained attention and executive function., [RefSeq, PubMed]; Acts as a dual histone chaperone and heat shock co-chaperone (PubMed:33857403). As a histone chaperone, forms a co-chaperone complex with MCM2 and histone H3-H4 heterodimers; and may thereby assist MCM2 in histone H3-H4 heterodimer recognition and facilitate the assembly of histones into nucleosomes (PubMed:33857403). May also act as a histone co-chaperone together with TONSL (PubMed:33857403). May recruit histone chaperones ASF1A, NASP and SPT2 to histone H3-H4 heterodimers (PubMed:33857403). Also plays a role as co-chaperone of the HSP70 family of molecular chaperone proteins, such as HSPA1A, HSPA1B and HSPA8 (PubMed:17182002, PubMed:33857403). As a co-chaperone, may play a role in the recruitment of HSP70-type molecular chaperone machinery to histone H3-H4 substrates, thereby maintaining the histone structural integrity (PubMed:33857403). Exhibits activity to assemble histones onto DNA in vitro (PubMed:33857403)., [UniProtKB, PubMed, PubMed]; DNAJC9 integrates heat shock molecular chaperones into the histone chaperone network., [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": 8, "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": "B2RMW6", "ec_number_list": "", "go_molecular_function": "GO:0051087 protein-folding chaperone binding;GO:0031072 heat shock protein binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006334 nucleosome assembly;GO:0032781 positive regulation of ATP-dependent activity", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q8WXX5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WZ79-1", "uniprot_id": "DNS2B_HUMAN", "mass": 41713.0, "length": 361, "protein_name": "Deoxyribonuclease-2-beta", "gene_name": "DNASE2B", "organism": "Human", "refseq_name": "deoxyribonuclease-2-beta isoform 1 precursor", "refseq_ac": "NP_067056", "gene_names_uniprotkb": "DNASE2B; DLAD", "gene_names_refseq": "DLAD; DNASE2B", "protein_names_uniprotkb": "Deoxyribonuclease-2-beta; 3.1.22.1; DNase II beta; DNase II-like acid DNase; DNase2-like acid DNase; Deoxyribonuclease II beta; Endonuclease DLAD", "protein_names_refseq": "DNase II beta; DNase II-like acid DNase; DNase2-like acid DNase; deoxyribonuclease II beta; deoxyribonuclease-2-beta isoform 1 precursor; endonuclease DLAD; lysosomal DNase II", "tax_id": 9606, "disease": "cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:58511)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11376952;11700027;12944971;20201924;20800603;21390259;23507146", "class_list": "", "function": "Gene lie head-to-head with the urate oxidase gene, [RefSeq, PubMed]; HSF4 exerts its function on lens differentiation via positive regulation of DLAD expression., [RefSeq, PubMed]; Hydrolyzes DNA under acidic conditions. Does not require divalent cations for activity. Participates in the degradation of nuclear DNA during lens cell differentiation., [UniProtKB, PubMed, 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]; The protein encoded by this gene shares considerable sequence similarity to, and is structurally related to DNase II. The latter is a well characterized endonuclease that catalyzes DNA hydrolysis in the absence of divalent cations at acidic pH. Unlike DNase II which is ubiquitously expressed, expression of this gene product is restricted to the salivary gland and lungs. The gene has been localized to chromosome 1p22.3 adjacent (and in opposite orientation) to the uricase pseudogene. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; These data identify DNase 2 as the predominant DNase on the mammalian skin surface and indicate that its activity is primarily targeted to exogenous DNA. Publication Status: Online-Only, [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": 11, "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": "Q5VXD0;Q5VXD1;Q8WZ80;Q9NQW3", "ec_number_list": "", "go_molecular_function": "GO:0004531 deoxyribonuclease II activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005764 lysosome", "go_biological_process": "GO:0006309 apoptotic DNA fragmentation", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8WZ79-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92784-1", "uniprot_id": "DPF3_HUMAN", "mass": 43084.0, "length": 378, "protein_name": "Zinc finger protein DPF3", "gene_name": "DPF3", "organism": "Human", "refseq_name": "zinc finger protein DPF3 isoform 2", "refseq_ac": "NP_001267471", "gene_names_uniprotkb": "DPF3; BAF45C; CERD4", "gene_names_refseq": "BAF45C; CERD4; DPF3; SMARCG3", "protein_names_uniprotkb": "Zinc finger protein DPF3; BAF45C; BRG1-associated factor 45C; Zinc finger protein cer-d4", "protein_names_refseq": "BRG1-associated factor 45C; D4, zinc and double PHD fingers, family 3; zinc finger protein DPF3 isoform 2; zinc finger protein DPF3; zinc finger protein cer-d4", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:8110); (R-HSA-9824585); (R-HSA-9845323); (R-HSA-9933937); (R-HSA-9934037)", "pathway_count": 5, "publication_count": 59, "publication_id_list": "10587587;11237011;11532965;11856727;11964381;12062444;12368262;1321344;1537333;1537334;15543135;15695812;15729346;16303920;17182843;17640523;17952075;18483556;18697795;18765789;18812475;19389701;19717472;20613843;22952240;23644491;23785148;24267888;25469497;26601204;26694611;27920218;28533407;28649982;28832583;29242379;29393594;29632046;29632711;29786170;30379171;30515787;31844290;32459350;32502341;33100333;34390653;35148991;35580127;35945219;37217939;38359823;38661008;38795855;7813420;8306979;8812431;8921401;9758418", "class_list": "", "function": "Acts as a regulator of myogenesis in cooperation with HDGFL2 (PubMed:32459350). Mediates the interaction of HDGFL2 with the BAF complex (PubMed:32459350). HDGFL2-DPF3a activate myogenic genes by increasing chromatin accessibility through recruitment of SMARCA4/BRG1/BAF190A (ATPase subunit of the BAF complex) to myogenic gene promoters (PubMed:32459350)., [UniProtKB, PubMed]; Altered regulation of DPF3, a member of the SWI/SNF complexes, underlies the 14q24 renal cancer susceptibility locus., [RefSeq, PubMed]; Belongs to the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic 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 post-mitotic 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). Muscle-specific component of the BAF complex, a multiprotein complex involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Specifically binds acetylated lysines on histone 3 and 4 (H3K14ac, H3K9ac, H4K5ac, H4K8ac, H4K12ac, H4K16ac). In the complex, it acts as a tissue-specific anchor between histone acetylations and methylations and chromatin remodeling. It thereby probably plays an essential role in heart and skeletal muscle development., [UniProtKB, PubMed]; DPF3 adds a further layer of complexity to the BAF complex by representing a tissue-specific anchor between histone acetylations as well as methylations and chromatin remodeling., [RefSeq, PubMed]; DPF3 polymorphisms increased the risk of pulmonary tuberculosis in the Northwest Chinese Han population., [RefSeq, PubMed]; Non-canonical role for the BAF complex subunit DPF3 in mitosis and ciliogenesis., [RefSeq, PubMed]; The SWI/SNF chromatin remodeling factor DPF3 regulates metastasis of ccRCC by modulating TGF-beta signaling. Publication Status: Online-Only, [RefSeq, PubMed]; The renal cancer risk allele at 14q24.2 activates a novel hypoxia-inducible transcription factor-binding enhancer of DPF3 expression., [RefSeq, PubMed]; This gene encodes a member of the D4 protein family. The encoded protein is a transcription regulator that binds acetylated histones and is a component of the BAF chromatin remodeling complex. Alternate 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": 8, "reported_glycation": 0, "reported_snv": 9, "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": "A8MSI3;B7Z276;F5H575;Q32UJ0;Q6P9E6;Q6ZT41;Q9H7Y5", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;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": 6.2, "record_id": "Q92784-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92874-1", "uniprot_id": "DNSL2_HUMAN", "mass": 32853.0, "length": 299, "protein_name": "Deoxyribonuclease-1-like 2", "gene_name": "DNASE1L2", "organism": "Human", "refseq_name": "deoxyribonuclease-1-like 2 precursor", "refseq_ac": "NP_001288609", "gene_names_uniprotkb": "DNASE1L2; DHP1; DNAS1L2", "gene_names_refseq": "DNAS1L2; DNASE1L2", "protein_names_uniprotkb": "Deoxyribonuclease-1-like 2; 3.1.21.-; DNase I homolog protein DHP1; DNase I-like 2; Deoxyribonuclease I-like 2", "protein_names_refseq": "DNase I homolog protein DHP1; DNase I-like 2; deoxyribonuclease I like 2; deoxyribonuclease-1-like 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:1775)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;15203207;16902420;25576224;28394916;32343605;35051231;35580925;39894887;9205125", "class_list": "", "function": "DNAS1L2 is activated via the NF-kappaB pathway, and an NF-kappaB binding site located within the 5' flanking region is identified as the cis-responsive element, [RefSeq, PubMed]; DNASE1L2 is generally well conserved with regard to the non-synonymous single nucleotide polymorphisms, thereby avoiding any marked reduction of the enzyme activity in human populations., [RefSeq, PubMed]; DNASE1L2, as a Carcinogenic Marker, Affects the Phenotype of Breast Cancer Cells Via Regulating Epithelial-Mesenchymal Transition Process., [RefSeq, PubMed]; DNase1L2 plays an essential role in DNA degradation during terminal differentiation of epidermal KC., [RefSeq, PubMed]; Divalent cation-dependent acid DNA endonuclease involved in the breakdown of the nucleus during corneocyte formation of epidermal keratinocytes. May play an immune role by eliminating harmful DNA released into the extracellular environment by damaged epidermal cells., [UniProtKB, PubMed]; Study surveyed the non-synonymous SNPs of DNASE1L2: 19 SNPs originating from frameshift/nonsense mutations found in DNASE1L2 resulted in loss of function of the enzyme. Thus, the present findings suggest that each of the minor alleles for these SNPs may serve as one of genetic risk factors for parakeratotic skin diseases such as psoriasis, even though they lack a worldwide genetic distribution. 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": 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": "E9PBY4;Q6JVM2;Q6JVM3", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0005509 calcium ion binding;GO:0004536 DNA nuclease activity;GO:0004530 deoxyribonuclease I activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006259 DNA metabolic process;GO:0006308 DNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q92874-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969H9-1", "uniprot_id": "DIRC1_HUMAN", "mass": 11440.0, "length": 104, "protein_name": "Disrupted in renal carcinoma protein 1", "gene_name": "DIRC1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "DIRC1", "gene_names_refseq": "", "protein_names_uniprotkb": "Disrupted in renal carcinoma protein 1; Disrupted in renal cancer protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11587072", "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": "Q08AK1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q969H9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96FX2-1", "uniprot_id": "DPH3_HUMAN", "mass": 9240.0, "length": 82, "protein_name": "Diphthamide biosynthesis protein 3", "gene_name": "DPH3", "organism": "Human", "refseq_name": "diphthamide biosynthesis protein 3 isoform 2", "refseq_ac": "NP_001040899", "gene_names_uniprotkb": "DPH3; DESR1; ZCSL2", "gene_names_refseq": "DELGIP1; DELGIP; DESR1; DPH3A; DPH3; KTI11; ZCSL2", "protein_names_uniprotkb": "Diphthamide biosynthesis protein 3; CSL-type zinc finger-containing protein 2; DelGEF-interacting protein 1; DelGIP1", "protein_names_refseq": "CSL-type zinc finger-containing protein 2; DPH3 homolog (KTI11, S. cerevisiae); DPH3, KTI11 homolog; DPH3A, KTI11 homolog A; Del-GEF interacting protein; deafness locus putative guanine nucleotide exchange factor interacting protein 1; delGEF-interacting protein 1; diphthamide biosynthesis protein 3 isoform 2; diphthamide biosynthesis protein 3; diphtheria toxin and Pseudomonas exotoxin A sensitivity required gene 1; zinc finger, CSL domain containing 2; zinc finger, CSL-type containing 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:285381); (R-HSA-5358493)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "14527407;14980502;1508200;15485916;18214955;18627462;20559380;23169644;23468660;23481700;23486472;23645155;23971743;24422557;24739148;25352115;26416425;28832583;28904123;29242379;30833945;31530632;31844290;32488085;33298915;3346227;33912179;33936100;33968037;33981976;34171305;35318648;35580925;36241641", "class_list": "", "function": "DelGIP1is a binding partner of deafness locus putative guanine nucleotide exchange factor; downregulation of DelGIP1 induced increased extracellular secretion of proteoglycans indicating a possible role for DelGIP1 in the secretion process, [RefSeq, PubMed]; Required for the first step of diphthamide biosynthesis, a post-translational modification of histidine which occurs in elongation factor 2. 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. Acts as an electron donor to reduce the Fe-S cluster in DPH1-DPH2 keeping the [4Fe-4S] clusters in the active and reduced state. Restores iron to DPH1-DPH2 iron-sulfur clusters which have degraded from [4Fe-4S] to [3Fe-4S] by donating an iron atom to reform [4Fe-4S] clusters, in a manner dependent on the presence of elongation factor 2 and SAM. Associates with the elongator complex and is required for tRNA Wobble base modifications mediated by the elongator complex. The elongator complex is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s 2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine)., [UniProtKB, UniProtKB]; Solution structure of human DESR1, a CSL zinc-binding protein., [RefSeq, PubMed]; The results from this study show occurrence of frequent somatic non-coding mutations adjacent to a pre-existing binding site for Ets transcription factors within the directional promoter of DPH3 and OXNAD1 genes in three major skin cancers., [RefSeq, PubMed]; This gene encodes a CSL zinc finger-containing protein that is required for dipthamide biosynthesis. The encoded protein is necessary for the initial step in the modification of a histidine residue in elongation factor-2 to diphthamide. This modified residue is a target for ADP ribosylation by the bacterial toxins diphtheria toxin and Pseudomonas exotoxin A. Alternative splicing results in multiple transcript variants that encode the same isoform. [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": "", "ec_number_list": "", "go_molecular_function": "GO:0005506 iron ion binding;GO:0008198 ferrous iron binding;GO:0034986 iron chaperone activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0032991 protein-containing complex", "go_biological_process": "GO:0050709 negative regulation of protein secretion;GO:0017183 protein histidyl modification to diphthamide;GO:0051099 positive regulation of binding;GO:0002926 tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q96FX2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96SL1-1", "uniprot_id": "DIRC2_HUMAN", "mass": 52088.0, "length": 478, "protein_name": "Solute carrier family 49 member 4", "gene_name": "SLC49A4", "organism": "Human", "refseq_name": "solute carrier family 49 member 4", "refseq_ac": "NP_116228", "gene_names_uniprotkb": "SLC49A4; DIRC2", "gene_names_refseq": "DIRC2; RCC4; SLC49A4", "protein_names_uniprotkb": "Solute carrier family 49 member 4; Disrupted in renal cancer protein 2; Disrupted in renal carcinoma protein 2", "protein_names_refseq": "disrupted in renal cancer protein 2; disrupted in renal carcinoma 2; renal cell carcinoma 4; solute carrier family 49 member 4", "tax_id": 9606, "disease": "renal cell carcinoma (Disease Ontology:DOID:4450)", "pathway": " (hsa:84925)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11912179;21692750;23481700;27862975;29242379;32157095;34171305;34357683;35051231;36456177", "class_list": "", "function": "Data strongly support the idea that DIRC2 is an electrogenic lysosomal metabolite transporter which is subjected to and presumably modulated by limited proteolytic processing., [RefSeq, PubMed]; Disrupted in renal carcinoma 2 (DIRC2/SLC49A4) is an H[+]-driven lysosomal pyridoxine exporter. Publication Status: Online-Only, [RefSeq, PubMed]; Gene disruption may result in haplo-insufficiency and, through this mechanism, in the onset of tumor growth., [RefSeq, PubMed]; Mediates H(+)-dependent pyridoxine transport., [UniProtKB, PubMed, PubMed]; This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet 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": 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": 11, "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": "A8K561;Q8NBX9", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0031923 pyridoxine transport", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q96SL1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BTC0-4", "uniprot_id": "DIDO1_HUMAN", "mass": 243873.0, "length": 2240, "protein_name": "Death-inducer obliterator 1", "gene_name": "DIDO1", "organism": "Human", "refseq_name": "death-inducer obliterator 1 isoform c", "refseq_ac": "NP_001180298", "gene_names_uniprotkb": "DIDO1; C20orf158; DATF1; KIAA0333", "gene_names_refseq": "BYE1; C20orf158; DATF-1; DATF1; DIDO1; DIDO2; DIDO3; DIO-1; DIO1; dJ885L7.8", "protein_names_uniprotkb": "Death-inducer obliterator 1; DATF-1; DIO-1; Death-associated transcription factor 1; hDido1", "protein_names_refseq": "death-associated transcription factor 1; death-inducer obliterator 1 isoform c", "tax_id": 9606, "disease": "severe congenital neutropenia (Disease Ontology:DOID:0050590); myelodysplastic syndrome (Disease Ontology:DOID:0050908); severe congenital neutropenia 2 (Disease Ontology:DOID:0112131); leukemia (Disease Ontology:DOID:1240); alcohol use disorder (Disease Ontology:DOID:1574); myelodysplastic/myeloproliferative neoplasm (Disease Ontology:DOID:4972); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:11083)", "pathway_count": 1, "publication_count": 111, "publication_id_list": "12070015;12624717;16127461;16964243;17081983;17547437;18220336;18669648;19690332;20068231;20305658;21406692;21740066;23186163;23481700;23831028;24129315;24275569;24366607;24715725;25367160;25505266;25576301;25645385;26154972;26375851;26992070;27114449;27600516;27846572;27920218;28218747;28228285;28510447;28514659;28649982;28832583;28834231;28904123;29237092;29242379;29351928;29393594;29437277;29493099;29557506;29632711;29786170;30059200;30315122;30379171;30397120;30410026;30429286;30484775;30524438;30761474;30931476;31154438;31217245;31492838;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32387766;32502341;32574038;32938616;32938750;32983136;33141586;33214551;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34384442;34725712;34846842;34932366;35051231;35132862;35138101;35254053;35289036;35513511;35580925;36010968;36240223;36241641;36284347;37340703;37541260;38665916;38838015;39302247;39531497;39534244;40596516;41518202", "class_list": "", "function": "Apoptosis, a major form of cell death, is an efficient mechanism for eliminating unwanted cells and is of central importance for development and homeostasis in metazoan animals. In mice, the death inducer-obliterator-1 gene is upregulated by apoptotic signals and encodes a cytoplasmic protein that translocates to the nucleus upon apoptotic signal activation. When overexpressed, the mouse protein induced apoptosis in cell lines growing in vitro. This gene is similar to the mouse gene and therefore is thought to be involved in apoptosis. Alternatively spliced transcripts have been found for this gene, encoding multiple isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; CircDIDO1 inhibits gastric cancer progression by encoding a novel DIDO1-529aa protein and regulating PRDX2 protein stability. Erratum:[Mol Cancer. 2025 May 21;24(1):146. doi: 10.1186/s12943-025-02356-0. PMID: 40394652] Publication Status: Online-Only, [RefSeq, PubMed]; Dido3 is an adaptor that controls SFPQ utilization in RNA splicing, [RefSeq, PubMed]; Displaces isoform 4 at the onset of differentiation, required for repression of stemness genes., [UniProtKB, PubMed]; Novel transcription factors identified in human CD34 antigen-positive hematopoietic stem cells., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Putative transcription factor, weakly pro-apoptotic when overexpressed (By similarity). Tumor suppressor. Required for early embryonic stem cell development., [UniProtKB, PubMed]; Role of DIDO1 in Progression of Esophageal Squamous Cell Carcinoma., [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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 37, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 37, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 37, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 100, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 7, "glyco_site_count": 39, "binding_glycan_count": 0, "secondary_ac_list": "A8MY65;B9EH82;E1P5I1;O15043;Q3ZTL7;Q3ZTL8;Q4VXS1;Q4VXS2;Q4VXV8;Q4VXV9;Q96D72;Q9BQW0;Q9BW03;Q9H4G6;Q9H4G7;Q9NTU8;Q9NUM8;Q9UFB6", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005819 spindle", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0097190 apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 15.1, "record_id": "Q9BTC0-4", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H1X3-1", "uniprot_id": "DJC25_HUMAN", "mass": 42404.0, "length": 360, "protein_name": "DnaJ homolog subfamily C member 25", "gene_name": "DNAJC25", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 25 precursor", "refseq_ac": "NP_001015882", "gene_names_uniprotkb": "DNAJC25", "gene_names_refseq": "DNAJC25; bA16L21.2.1", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 25", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 25; DnaJ-like protein; dnaJ homolog subfamily C member 25 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:548645); (hsa:552891)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "11237011;29557506;29769354;30429286;30484775;31844290;32157095;33912179;35051231;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": 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": "Q5QTD8;Q96BN9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9H1X3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NZQ0-1", "uniprot_id": "DJC27_HUMAN", "mass": 30855.0, "length": 273, "protein_name": "DnaJ homolog subfamily C member 27", "gene_name": "DNAJC27", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 27 isoform 2", "refseq_ac": "NP_001185488", "gene_names_uniprotkb": "DNAJC27; RABJS; RBJ", "gene_names_refseq": "DNAJC27; RBJ; RabJS", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 27; Rab and DnaJ domain-containing protein", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 27; Ras-associated protein Rap1; dnaJ homolog subfamily C member 27 isoform 2; dnaJ homolog subfamily C member 27; rab and DnaJ domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:51277)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "14980719;20877624;24746703;30429286;33912179", "class_list": "", "function": "GTPase which can activate the MEK/ERK pathway and induce cell transformation when overexpressed. May act as a nuclear scaffold for MAPK1, probably by association with MAPK1 nuclear export signal leading to enhanced ERK1/ERK2 signaling., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; These data suggest that RBJ may be an oncogenic Ras-related small GTPase mediating nuclear accumulation of active MEK1/MEK2 in tumor progression. Erratum:[Cancer Cell. 2021 Mar 8;39(3):438-440. doi: 10.1016/j.ccell.2021.02.010. PMID: 33689704], [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": "Q5JV88;Q86Y24", "ec_number_list": "", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0031410 cytoplasmic vesicle;GO:0031090 organelle membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0070374 positive regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q9NZQ0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBC3-1", "uniprot_id": "DNM3B_HUMAN", "mass": 95751.0, "length": 853, "protein_name": "DNA (cytosine-5)-methyltransferase 3B", "gene_name": "DNMT3B", "organism": "Human", "refseq_name": "DNA (cytosine-5)-methyltransferase 3B isoform 7", "refseq_ac": "NP_001193984", "gene_names_uniprotkb": "DNMT3B", "gene_names_refseq": "DNMT3B; FSHD4; ICF1; ICF; M.HsaIIIB", "protein_names_uniprotkb": "DNA (cytosine-5)-methyltransferase 3B; 2.1.1.37; DNA MTase HsaIIIB; DNA methyltransferase HsaIIIB; Dnmt3b; M.HsaIIIB", "protein_names_refseq": "DNA (cytosine-5)-methyltransferase 3B isoform 7; DNA (cytosine-5)-methyltransferase 3B; DNA (cytosine-5-)-methyltransferase 3 beta; DNA MTase HsaIIIB; DNA cytosine-5--methyltransferase 3 beta; DNA methyltransferase HsaIIIB", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); facioscapulohumeral muscular dystrophy 4 (Disease Ontology:DOID:0060918); immunodeficiency-centromeric instability-facial anomalies syndrome (Disease Ontology:DOID:0090007); immunodeficiency-centromeric instability-facial anomalies syndrome 1 (Disease Ontology:DOID:0090008); lung cancer (Disease Ontology:DOID:1324); prostatitis (Disease Ontology:DOID:14654); congenital heart disease (Disease Ontology:DOID:1682); anxiety disorder (Disease Ontology:DOID:2030); endometriosis of uterus (Disease Ontology:DOID:288); endometriosis (Disease Ontology:DOID:289); thymoma (Disease Ontology:DOID:3275); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung adenocarcinoma (Disease Ontology:DOID:3910); lung small cell carcinoma (Disease Ontology:DOID:5409); schizophrenia (Disease Ontology:DOID:5419); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); gastric body carcinoma (Disease Ontology:DOID:6705); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); chronic myeloid leukemia (Disease Ontology:DOID:8552); skin melanoma (Disease Ontology:DOID:8923); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); acute myeloid leukemia (Disease Ontology:DOID:9119); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:1789); (R-HSA-212300); (R-HSA-427413); (R-HSA-4655427); (R-HSA-5334118); (R-HSA-9710421)", "pathway_count": 6, "publication_count": 109, "publication_id_list": "10325416;10433969;10471499;10551868;10555141;10588719;10647011;11102980;11237011;11735126;12145218;12351676;12435631;12481029;14610093;15099518;15105426;15580563;15861382;16357870;16431907;16682412;16829525;17200670;17303076;17355984;17673620;17687327;18223688;18302924;18346456;18413740;18567530;18762900;18772889;18945682;18974356;19026781;19450230;19571010;19651622;19664994;19664995;19834512;19838300;20068231;20075857;20123894;20630873;20838592;20841325;20937877;20974918;21120685;21163962;21170310;21378119;21406692;21489993;21706000;21720545;21777816;21808299;21808300;21979949;22064703;22323599;22348533;22466170;23022729;23161542;23186163;23326524;23431328;23679895;23752590;24074865;24368767;24715725;25576301;25916849;26992070;27153398;27734333;28404884;28411811;28904123;30923826;30993897;31086175;31154438;32188940;32387766;32502341;32522876;32938616;33912179;33968037;33981976;34171305;34509645;35051231;36215666;38705495;38809976;39023272;39227479;39290110;7597036", "class_list": "", "function": "CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]., [RefSeq]; DNA methylation of miR-181a-5p mediated by DNMT3b drives renal interstitial fibrosis developed from acute kidney injury., [RefSeq, PubMed]; DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis., [RefSeq, PubMed]; Inhibiting DNA methyltransferase DNMT3B confers protection against ferroptosis in nucleus pulposus and ameliorates intervertebral disc degeneration via upregulating SLC40A1., [RefSeq, PubMed]; Molecular mechanisms for DNA methylation defects induced by ICF syndrome-linked mutations in DNMT3B., [RefSeq, PubMed]; Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Functions as a transcriptional corepressor by associating with ZHX1. Required for DUX4 silencing in somatic cells (PubMed:27153398)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; SOX7 inhibits the malignant progression of bladder cancer via the DNMT3B/CYGB 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": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 56, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 27, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2A2E2;B4DSM8;B4DSU1;E1P5M6;E1P5M7;E7EN63;E9PBF2;Q9UBD4;Q9UJQ5;Q9UKA6;Q9UNE5;Q9Y5R9;Q9Y5S0", "ec_number_list": "3.6.4.-;2.1.1.37;2.3.2.-;3.5.1.-;3.5.1.98;2.1.1.356;2.1.1.-", "go_molecular_function": "GO:0003886 DNA (cytosine-5-)-methyltransferase activity;GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0009008 DNA-methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0010628 positive regulation of gene expression;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q9UBC3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBS4-1", "uniprot_id": "DJB11_HUMAN", "mass": 40514.0, "length": 358, "protein_name": "DnaJ homolog subfamily B member 11", "gene_name": "DNAJB11", "organism": "Human", "refseq_name": "dnaJ homolog subfamily B member 11 isoform 1 precursor", "refseq_ac": "NP_057390", "gene_names_uniprotkb": "DNAJB11; EDJ; ERJ3; HDJ9; PRO1080; PSEC0121", "gene_names_refseq": "ABBP-2; ABBP2; DJ9; DNAJB11; Dj-9; EDJ; ERdj3; ERj3p; ERj3; PKD6; PRO1080; UNQ537", "protein_names_uniprotkb": "DnaJ homolog subfamily B member 11; ABBP-2; APOBEC1-binding protein 2; DnaJ protein homolog 9; ER-associated DNAJ; ER-associated Hsp40 co-chaperone; ER-resident protein ERdj3; ERdj3; ERj3p; Endoplasmic reticulum DNA J domain-containing protein 3; HEDJ; Human DnaJ protein 9; PWP1-interacting protein 4; hDj-9", "protein_names_refseq": "APOBEC1-binding protein 2; DnaJ (Hsp40) homolog, subfamily B, member 11; DnaJ protein 9; ER-associated DNAJ protein 3; ER-associated Hsp40 co-chaperone; ER-resident protein ERdj3; PWP1-interacting protein 4; dnaJ homolog subfamily B member 11 isoform 1 precursor; dnaJ homolog subfamily B member 11; endoplasmic reticulum DNA J domain-containing protein 3", "tax_id": 9606, "disease": "polycystic kidney disease 6 (Disease Ontology:DOID:0060951)", "pathway": " (hsa:51726); (R-HSA-381038); (R-HSA-9918432)", "pathway_count": 3, "publication_count": 79, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10228156;10601334;10827079;11147971;11237011;11584023;12204115;12475965;12975309;15195998;15466936;15525676;15544163;16303743;16461360;16539657;17525332;17976514;18512783;18664523;19159218;20068231;21282569;22121020;25502872;25645385;25802875;25813380;26208004;26758079;26992070;27383988;28228285;28228593;28467828;28832583;28834231;28904123;29242379;29314611;29557506;29706351;29741879;29769354;30315122;30410026;30444036;30484775;30573663;31844290;31848261;32157095;32350084;32631624;33592498;33912179;33968037;34078123;34171305;34357683;34725712;35154160;35215835;35561310;36010968;36215666;36241641;37074911;37938771;38275584;38793607;40914422;7590364;8666242;9037597;9450183;9473480", "class_list": "", "function": "As a co-chaperone for HSPA5 it is required for proper folding, trafficking or degradation of proteins (PubMed:10827079, PubMed:15525676, PubMed:29706351). Binds directly to both unfolded proteins that are substrates for ERAD and nascent unfolded peptide chains, but dissociates from the HSPA5-unfolded protein complex before folding is completed (PubMed:15525676). May help recruiting HSPA5 and other chaperones to the substrate. Stimulates HSPA5 ATPase activity (PubMed:10827079). It is necessary for maturation and correct trafficking of PKD1 (PubMed:29706351)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease., [RefSeq, PubMed]; DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort. Publication Status: Online-Only, [RefSeq, PubMed]; These data suggest that ERdj3 might have diverse roles in the ER, including that of the molecular cochaperone of BiP and an as yet unknown protective action against vero toxin.(ERDJ3), [RefSeq, PubMed]; This gene encodes a soluble glycoprotein of the endoplasmic reticulum (ER) lumen that functions as a co-chaperone of binding immunoglobulin protein, a 70 kilodalton heat shock protein chaperone required for the proper folding and assembly of proteins in the ER. The encoded protein contains a highly conserved J domain of about 70 amino acids with a characteristic His-Pro-Asp (HPD) motif and may regulate the activity of binding immunoglobulin protein by stimulating ATPase activity. [provided by RefSeq, Mar 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": 1, "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": 2, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q542Y5;Q542Y9;Q6IAQ8;Q96JC6", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0051082 unfolded protein binding;GO:0051787 misfolded protein binding", "go_cellular_component": "GO:0034663 endoplasmic reticulum chaperone complex;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0006457 protein folding;GO:0032781 positive regulation of ATP-dependent activity;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q9UBS4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UGM3-1", "uniprot_id": "DMBT1_HUMAN", "mass": 260735.0, "length": 2413, "protein_name": "Scavenger receptor cysteine-rich domain-containing protein DMBT1", "gene_name": "DMBT1", "organism": "Human", "refseq_name": "scavenger receptor cysteine-rich domain-containing protein DMBT1 isoform d precursor", "refseq_ac": "NP_001307573", "gene_names_uniprotkb": "DMBT1; GP340", "gene_names_refseq": "DMBT1; GP340; SAG; SALSA; muclin", "protein_names_uniprotkb": "Scavenger receptor cysteine-rich domain-containing protein DMBT1; Deleted in malignant brain tumors 1 protein; Glycoprotein 340; Gp-340; Hensin; SAG; Salivary agglutinin; Surfactant pulmonary-associated D-binding protein", "protein_names_refseq": "glycoprotein 340; hensin; salivary agglutinin; salivary scavenger and agglutinin; scavenger receptor cysteine-rich domain-containing protein DMBT1 isoform d precursor; scavenger receptor cysteine-rich domain-containing protein DMBT1; surfactant pulmonary-associated D-binding protein; vomeroglandin", "tax_id": 9606, "disease": "pheochromocytoma (Disease Ontology:DOID:0050771); 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); glioblastoma (Disease Ontology:DOID:3068); high grade glioma (Disease Ontology:DOID:3070); 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); type 2 diabetes mellitus (Disease Ontology:DOID:9352); acute myocardial infarction (Disease Ontology:DOID:9408); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1755); (R-HSA-5683826)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "40667337;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10101009;10368295;10485905;10496952;10551316;10580105;10597221;10625644;10749143;11007786;11237011;11278984;11563989;11751412;12185598;12353266;12882447;1325798;1339284;1415726;15355985;1568474;15926889;16006481;16199866;1636732;16423266;16630564;16740002;16796526;17496061;17548659;17709527;17983803;18020944;18692472;18713006;1898081;19100526;19144824;19189310;1928448;19824815;20054143;20147294;20338813;20418254;23069847;23439307;23584533;23590306;23684610;23922714;24190977;24715725;24743970;2515193;25424900;25813380;2587265;25946035;2610270;27452731;28397838;29557506;29605689;2995821;3037072;31844290;32157095;32357974;32488085;32938616;33444084;3366248;34323417;34605357;34631;35051231;35488257;35580925;36284347;3755136;3801783;38246944;7597036;8314870;8428971;8522976;8527267;8636114;9153228;9288095;9813380;9888459", "class_list": "", "function": "Deleted in malignant brain tumor 1 genetic variation confers urinary tract infection risk in children and mice., [RefSeq, PubMed]; Evaluation of CSTB and DMBT1 expression in saliva of gastric cancer patients and controls. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. This gene was originally isolated based on its deletion in a medulloblastoma cell line. This gene is expressed with transcripts of 6.0, 7.5, and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although the 7.5 kb transcript has not been characterized. The encoded protein precursor is a glycoprotein containing multiple scavenger receptor cysteine-rich (SRCR) domains separated by SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb) has been shown to bind surfactant protein D independently of carbohydrate recognition. This indicates that DMBT1 may not be a classical tumor suppressor gene, but rather play a role in the interaction of tumor cells and the immune system. [provided by RefSeq, Mar 2016]., [RefSeq]; May be considered as a candidate tumor suppressor gene for brain, lung, esophageal, gastric, and colorectal cancers. May play roles in mucosal defense system, cellular immune defense and epithelial differentiation. May play a role as an opsonin receptor for SFTPD and SPAR in macrophage tissues throughout the body, including epithelial cells lining the gastrointestinal tract. May play a role in liver regeneration. May be an important factor in fate decision and differentiation of transit-amplifying ductular (oval) cells within the hepatic lineage. Required for terminal differentiation of columnar epithelial cells during early embryogenesis. May function as a binding protein in saliva for the regulation of taste sensation. Binds to HIV-1 envelope protein and has been shown to both inhibit and facilitate viral transmission. Displays a broad calcium-dependent binding spectrum against both Gram-positive and Gram-negative bacteria, suggesting a role in defense against bacterial pathogens. Binds to a range of poly-sulfated and poly-phosphorylated ligands which may explain its broad bacterial-binding specificity. Inhibits cytoinvasion of S.enterica. Associates with the actin cytoskeleton and is involved in its remodeling during regulated exocytosis. Interacts with pancreatic zymogens in a pH-dependent manner and may act as a Golgi cargo receptor in the regulated secretory pathway of the pancreatic acinar cell., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Potential role of glycoprotein 340 in milder SARS-CoV-2 infection in children., [RefSeq, PubMed]; Reg3A (regenerating family member 3 alpha) acts as a tumor suppressor by targeting DMBT1 (deleted in malignant brain tumors 1) in gastric cancer., [RefSeq, PubMed]; Salivary Th17 cytokine, human beta-defensin 1-3, and salivary scavenger and agglutinin levels in Crohn's disease. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 16, "predicted_n_glycosites": 10, "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": 4, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 18, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 18, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 18, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 170, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 26, "glyco_site_count": 38, "binding_glycan_count": 0, "secondary_ac_list": "A6NDG4;A6NDJ5;A8E4R5;B1ARE7;B1ARE8;B1ARE9;B1ARF0;B7Z8Y2;F8WEF7;Q59EX0;Q5JR26;Q6MZN4;Q96DU4;Q9UGM2;Q9UJ57;Q9UKJ4;Q9Y211;Q9Y4V9", "ec_number_list": "", "go_molecular_function": "GO:0005044 scavenger receptor activity;GO:0048306 calcium-dependent protein binding;GO:0035375 zymogen binding;GO:0038187 pattern recognition receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0015031 protein transport;GO:0030855 epithelial cell differentiation;GO:0045087 innate immune response;GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "Q9UGM3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UPQ8-1", "uniprot_id": "DOLK_HUMAN", "mass": 59268.0, "length": 538, "protein_name": "Dolichol kinase", "gene_name": "DOLK", "organism": "Human", "refseq_name": "dolichol kinase", "refseq_ac": "NP_055723", "gene_names_uniprotkb": "DOLK; KIAA1094; PRO4980; TMEM15", "gene_names_refseq": "CDG1M; DK1; DK; DOLK; SEC59; TMEM15", "protein_names_uniprotkb": "Dolichol kinase; 2.7.1.108; Transmembrane protein 15", "protein_names_refseq": "SEC59 homolog; dolichol kinase 1; dolichol kinase; transmembrane protein 15", "tax_id": 9606, "disease": "congenital disorder of glycosylation type I (Disease Ontology:DOID:0050570); congenital disorder of glycosylation Im (Disease Ontology:DOID:0080565)", "pathway": " (hsa:22845); (R-HSA-446199); (R-HSA-4755583)", "pathway_count": 3, "publication_count": 58, "publication_id_list": "12213788;12975309;14652022;16923818;17273964;20637498;20700148;21295283;21572394;22240719;22242004;23890587;25576301;25645385;25892735;26154972;27058226;27397612;27846572;27862975;28218747;28228285;28816422;28832583;29242379;29437277;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30429286;30484775;31154438;31844290;31848261;32157095;32250540;32350084;32387766;32938616;33717175;33912179;33968037;34087483;35051231;35494241;35580925;36241641;36284347;36581221;37938771;38821050;6243292;7374371;8626466", "class_list": "glycogene", "function": "Catalyzes CTP-mediated phosphorylation of dolichol, the terminal step in de novo dolichyl monophosphate (Dol-P) biosynthesis (PubMed:12213788, PubMed:16923818, PubMed:17273964, PubMed:22242004). Dol-P is a lipid carrier essential for the synthesis of N-linked and O-linked oligosaccharides and for GPI anchors (PubMed:12213788)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Dolichol kinase is a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site, [RefSeq, PubMed]; Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannosylation, N- and O-linked glycosylation of proteins, and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum. Mutations in this gene are associated with dolichol kinase deficiency.[provided by RefSeq, Apr 2010]., [RefSeq]; These patients represent an earlier and more severe form of DOLK-CDG (CDG-1m) with a striking presentation at birth that expands the known phenotypic spectrum., [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": 685, "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": "Q5SRE6", "ec_number_list": "2.7.1.108", "go_molecular_function": "GO:0004168 dolichol kinase activity", "go_cellular_component": "GO:0005730 nucleolus;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0043048 dolichyl monophosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9UPQ8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2G8-1", "uniprot_id": "DJC16_HUMAN", "mass": 90591.0, "length": 782, "protein_name": "DnaJ homolog subfamily C member 16", "gene_name": "DNAJC16", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 16 isoform 2", "refseq_ac": "NP_001274740", "gene_names_uniprotkb": "DNAJC16; ERDJ8; KIAA0962", "gene_names_refseq": "DNAJC16; ERdj8", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 16; ER-resident protein ERdj8; ERdj8; Endoplasmic reticulum DNA J domain-containing protein 8", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 16; ER-resident protein ERdj8; dnaJ homolog subfamily C member 16 isoform 2; endoplasmic reticulum DNA J domain-containing protein 8; novel DnaJ domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:23341)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "11237011;19773279;23481700;25576301;25645385;25880248;26154972;26375851;26992070;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29786170;29789417;30315122;30429286;31092671;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32492081;32502341;32897882;32938616;32983136;33298915;33392160;33592498;33717175;33912179;33968037;34087483;34171305;34185709;34357683;34932366;35051231;35251023;35561310;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "ERdj8 governs the size of autophagosomes during the formation process. GeneRIF: ERdj8 is another name for DNAJC16. Erratum:[J Cell Biol. 2020 Aug 3;219(8):e20190312709142020c. doi: 10.1083/jcb.20190312709142020c. PMID: 32968790], [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays an important role in regulating the size of autophagosomes during the formation process., [UniProtKB, UniProtKB, UniProtKB, 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": 3, "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": "Q68D57;Q86X32;Q8N5P4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0016243 regulation of autophagosome size;GO:0006914 autophagy", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9Y2G8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96HU8-1", "uniprot_id": "DIRA2_HUMAN", "mass": 22485.0, "length": 199, "protein_name": "GTP-binding protein Di-Ras2", "gene_name": "DIRAS2", "organism": "Human", "refseq_name": "GTP-binding protein Di-Ras2", "refseq_ac": "NP_060064", "gene_names_uniprotkb": "DIRAS2", "gene_names_refseq": "DIRAS2; Di-Ras2", "protein_names_uniprotkb": "GTP-binding protein Di-Ras2; 3.6.5.-; Distinct subgroup of the Ras family member 2", "protein_names_refseq": "DIRAS family, GTP-binding RAS-like 2; GTP-binding protein Di-Ras2; distinct subgroup of the Ras family member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54769)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;12194967;21750579;25645385;26374642;28228285;29488099;29557506;29786170;29789417;30429286;31844290;31848261;32161311;32983136;34211107;34990989;35051231;35173535;38574733", "class_list": "", "function": "ADHD patients with DIRAS2 risk allele need more thalamic activation during emotional face-voice recognition., [RefSeq, PubMed]; DIRAS2 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]., [RefSeq]; Di-Ras2 promotes renal cell carcinoma formation by activating the mitogen-activated protein kinase pathway in the absence of von Hippel-Lindau protein., [RefSeq, PubMed]; Displays low GTPase activity and exists predominantly in the GTP-bound form., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Diverse Ras-related GTPase DIRAS2, downregulated by PSMD2 in a proteasome-mediated way, inhibits colorectal cancer proliferation by blocking NF-kappaB signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Four single nucleotide polymorphisms (SNPs) and two haplotype blocks in DIRAS2 show evidence of association with attention deficit/hyperactivity disorder (ADHD) in adults. Erratum:[Neuropsychopharmacology. 2012 Mar;37(4):1076], [RefSeq, PubMed]; Our findings support the idea of DIRAS2 as a candidate gene for attention-deficit/hyperactivity 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": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KVM2", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;3.6.1.-;3.6.5.4;2.7.11.1;3.6.-.-;3.6.1.15;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007264 small GTPase-mediated signal transduction;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q96HU8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NLW8-1", "uniprot_id": "DUXA_HUMAN", "mass": 23817.0, "length": 204, "protein_name": "Double homeobox protein A", "gene_name": "DUXA", "organism": "Human", "refseq_name": "double homeobox protein A", "refseq_ac": "NP_001012747", "gene_names_uniprotkb": "DUXA", "gene_names_refseq": "DUXA", "protein_names_uniprotkb": "Double homeobox protein A", "protein_names_refseq": "double homeobox protein A", "tax_id": 9606, "disease": "", "pathway": " (hsa:503835); (R-HSA-9819196)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "17005330;22209328;23934149;24278031;26360614;26951377;27062923;27412763;28228285;28459456;28459457;30315122;31630170;31844290;32938616;34267371;35402882;36074823", "class_list": "", "function": "Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DUXA homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that acts as a repressor., [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: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:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "A6NLW8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A7MBM2-1", "uniprot_id": "DISP2_HUMAN", "mass": 152003.0, "length": 1401, "protein_name": "Protein dispatched homolog 2", "gene_name": "DISP2", "organism": "Human", "refseq_name": "protein dispatched homolog 2", "refseq_ac": "NP_277045", "gene_names_uniprotkb": "DISP2; C15orf36; DISPB; KIAA1742; LINC00594", "gene_names_refseq": "C15orf36; DISP2; DISPB; HsT16908; LINC00594", "protein_names_uniprotkb": "Protein dispatched homolog 2", "protein_names_refseq": "dispatched B; long intergenic non-protein coding RNA 594; protein dispatched homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:85455); (R-HSA-5362798)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "10.1101/2023.09.13.557529;10619433;12015973;12372301;15110707;15647319;15963974;17210683;17609110;17967162;18477453;19176481;20412775;21257310;21339334;21664575;22467855;22609552;22677548;22902404;23118222;23719536;23867465;24190977;30429286;31844290;31848261;32938616;33912179;33968037;34509645;35051231;35154160;36010968;38565786", "class_list": "", "function": "A Hypermutable Region in the DISP2 Gene Links to Natural Selection and Late-Onset Neurocognitive Disorders in Humans., [RefSeq, PubMed]; This gene is one of two human homologs of a segment-polarity gene known as dispatched identified in Drosophila. The product of this gene may be required for normal Hedgehog (Hh) signaling during embryonic pattern formation. [provided by RefSeq, Jan 2017]., [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": 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": 33, "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": "Q6AHW3;Q9C0C1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007224 smoothened signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "A7MBM2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60479-1", "uniprot_id": "DLX3_HUMAN", "mass": 31738.0, "length": 287, "protein_name": "Homeobox protein DLX-3", "gene_name": "DLX3", "organism": "Human", "refseq_name": "homeobox protein DLX-3", "refseq_ac": "NP_005211", "gene_names_uniprotkb": "DLX3", "gene_names_refseq": "AI4; DLX3; TDO", "protein_names_uniprotkb": "Homeobox protein DLX-3", "protein_names_refseq": "homeobox protein DLX-3", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); maturity-onset diabetes of the young (Disease Ontology:DOID:0050524); permanent neonatal diabetes mellitus (Disease Ontology:DOID:0060639); amelogenesis imperfecta type 4 (Disease Ontology:DOID:0110053); type 1 diabetes mellitus 2 (Disease Ontology:DOID:0110741); maturity-onset diabetes of the young type 10 (Disease Ontology:DOID:0111108); trichodontoosseous syndrome (Disease Ontology:DOID:0111565); prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); gestational diabetes (Disease Ontology:DOID:11714); neonatal diabetes mellitus (Disease Ontology:DOID:11717); pancreatic cancer (Disease Ontology:DOID:1793); hyperuricemia (Disease Ontology:DOID:1920); hyperinsulinism (Disease Ontology:DOID:2018); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); insulinoma (Disease Ontology:DOID:3892); cholangiocarcinoma (Disease Ontology:DOID:4947); osteoarthritis (Disease Ontology:DOID:8398); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:1747)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;11343707;11792834;15666299;16303743;24924519;26550823;32157095;32161166;32938616;34087483;35051231;36010968;36012753;36854347;38006713;38945953;39400082;9467018", "class_list": "", "function": "A heterozygous missense variant in DLX3 leads to uterine leiomyomas and pregnancy losses in a consanguineous Iranian family., [RefSeq, PubMed]; A novel DLX3 mutation causes tricho-dento-osseous syndrome with abnormal enamel structure and formation., [RefSeq, PubMed]; Association Between the Risk of Dental Caries and DLX3 Gene Polymorphisms in Chinese Children. Publication Status: Online-Only, [RefSeq, PubMed]; MAST4 regulates stem cell maintenance with DLX3 for epithelial development and amelogenesis., [RefSeq, PubMed]; Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. [provided by RefSeq, Jul 2008]., [RefSeq]; Results suggest that a serine residue in the homeodomain of the mouse Dlx3 protein can be directly phosphorylated by a protein kinase C-dependent pathway, which affects the DNA binding activity of Dlx3., [RefSeq, PubMed]; Salt Dependence of DNA Binding Activity of Human Transcription Factor Dlx3. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional activator (By similarity). Activates transcription of GNRHR, via binding to the downstream activin regulatory element (DARE) in the gene promoter (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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 24, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KQL6", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;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_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:0030855 epithelial cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0030509 BMP signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "O60479-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43598-1", "uniprot_id": "DNPH1_HUMAN", "mass": 19108.0, "length": 174, "protein_name": "5-hydroxymethyl-dUMP N-hydrolase", "gene_name": "DNPH1", "organism": "Human", "refseq_name": "5-hydroxymethyl-dUMP N-hydrolase isoform 1", "refseq_ac": "NP_006434", "gene_names_uniprotkb": "DNPH1; C6orf108; RCL", "gene_names_refseq": "C6orf108; DNPH1; RCL; dJ330M21.3", "protein_names_uniprotkb": "5-hydroxymethyl-dUMP N-hydrolase; 2'-deoxynucleoside 5'-phosphate N-hydrolase 1; 3.2.2.-; c-Myc-responsive protein RCL", "protein_names_refseq": "5-hydroxymethyl-dUMP N-hydrolase isoform 1; 5-hydroxymethyl-dUMP N-hydrolase; c-Myc-responsive protein RCL; deoxyribonucleoside 5'-monophosphate N-glycosidase; putative c-Myc-responsive", "tax_id": 9606, "disease": "", "pathway": " (hsa:10591); (R-HSA-74259)", "pathway_count": 2, "publication_count": 99, "publication_id_list": "10075721;10364222;10681516;10766785;11083867;11133996;11237011;11278832;11690631;12750059;12947102;1637327;17081983;17234634;17287340;17301077;17322306;17405878;18452278;18669648;18726892;19413330;19415658;19470646;19651622;19664995;19690332;20068231;20081199;20166139;2104852;2129526;21406692;2157703;22223895;23186163;23203137;2344353;24260472;24275569;24366607;24715725;25108359;25576301;25645385;26992070;27846572;27920218;28063628;28228285;2848805;28510447;28832583;29242379;29393594;29493099;29508533;29632046;29632711;29786170;3029074;30315122;3036115;30524438;30779550;31154438;31222486;31530632;31844290;31848261;32157095;32350084;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33592498;33833118;33936100;33968037;34087483;34211107;34433824;34509645;34561969;35051231;35154160;35251023;35561310;36215666;36284347;37142196;38350003;6771276;8670112;9271375", "class_list": "", "function": "Characterization of the human Rcl gene, we cloned its promoter, Rcl is a bona fide target gene of ETV1., [RefSeq, PubMed]; Human 2'-Deoxynucleoside 5'-Phosphate N-Hydrolase 1: The Catalytic Roles of Tyr24 and Asp80., [RefSeq, PubMed]; Part of a nucleotide salvage pathway that eliminates epigenetically modified 5-hydroxymethyl-dCMP (hmdCMP) in a two-step process entailing deamination to cytotoxic 5-hydroxymethyl-dUMP (hmdUMP), followed by its hydrolysis into 5-hydroxymethyluracil (hmU) and 2-deoxy-D-ribose 5-phosphate (deoxyribosephosphate) (PubMed:33833118). Catalyzes the second step in that pathway, the hydrolysis of the N-glycosidic bond in hmdUMP, degrading this cytotoxic nucleotide to avoid its genomic integration (PubMed:33833118)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Targeting the nucleotide salvage factor DNPH1 sensitizes BRCA-deficient cells to PARP inhibitors., [RefSeq, PubMed]; This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that participates in the regulation of cell proliferation, differentiation, and apoptosis. The exact function of this gene is not known but studies in rat suggest a role in cellular proliferation and c-Myc-mediated transformation. Two alternative transcripts encoding different proteins 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": 1, "reported_phosphosites": 7, "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": "B2LUJ9", "ec_number_list": "3.2.2.-", "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0070694 5-hydroxymethyl-dUMP N-hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030307 positive regulation of cell growth;GO:0030855 epithelial cell differentiation;GO:0006195 purine nucleotide catabolic process;GO:0000255 allantoin metabolic process;GO:0009159 deoxyribonucleoside monophosphate catabolic process", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "O43598-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43921-1", "uniprot_id": "EFNA2_HUMAN", "mass": 23878.0, "length": 213, "protein_name": "Ephrin-A2", "gene_name": "EFNA2", "organism": "Human", "refseq_name": "ephrin-A2 precursor", "refseq_ac": "NP_001396", "gene_names_uniprotkb": "EFNA2; EPLG6; LERK6", "gene_names_refseq": "EFNA2; ELF-1; EPLG6; HEK7-L; LERK-6; LERK6", "protein_names_uniprotkb": "Ephrin-A2; EPH-related receptor tyrosine kinase ligand 6; HEK7 ligand; HEK7-L; LERK-6", "protein_names_refseq": "HEK7 ligand; eph-related receptor tyrosine kinase ligand 6; ephrin-A2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:1943); (R-HSA-2682334); (R-HSA-3928663); (R-HSA-3928665)", "pathway_count": 4, "publication_count": 32, "publication_id_list": "10.1101/2023.09.13.557529;10769020;10848605;11179879;11448999;11780069;12084815;12495863;12973357;15351694;15848799;15848800;16511561;17322526;17428795;17928214;18713744;19525919;19836338;20496116;24050852;24190977;24550731;26561474;29557506;33772606;34523824;35051231;37074911;9465306;9499402;9826538", "class_list": "", "function": "Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. With the EPHA2 receptor may play a role in bone remodeling through regulation of osteoclastogenesis and osteoblastogenesis (By similarity)., [UniProtKB]; Ephrin-A2 expression was correlated with Ki-67 expression in PCa patients, both at the gene scale and protein level. Our data indicate that Ephrin-A2 is a potential diagnostic and prognostic biomarker and a promising molecular therapeutic target to attenuate prostate cancer progression, [RefSeq, PubMed]; Ephrin-A2 promotes prostate cancer metastasis by enhancing angiogenesis and promoting EMT., [RefSeq, PubMed]; Genetic variation in genes regulating skeletal muscle regeneration and tissue remodelling associated with weight loss in chronic obstructive pulmonary disease. Erratum:[J Cachexia Sarcopenia Muscle. 2024 Apr;15(2):765. doi: 10.1002/jcsm.13442. PMID: 38327146], [RefSeq, PubMed]; High EphA2 receptor expression in colorectal cancer was associated with a worse outcome in patients treated with cetuximab-based therapy, [RefSeq, PubMed]; These studies suggested that Kaposi's sarcoma-associated herpesvirus utilizes CIB1 as one of the key molecule(s) to coordinate and sustain the EphA2 mediated signaling involved in its entry Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the ephrin family. The protein is composed of a signal sequence, a receptor-binding region, a spacer region, and a hydrophobic region. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. Posttranslational modifications determine whether this protein localizes to the nucleus or the cytoplasm. [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": 7, "reported_interactions": 0, "missing_score": 9781, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O76020", "ec_number_list": "", "go_molecular_function": "GO:0046875 ephrin receptor binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031594 neuromuscular junction;GO:0043204 perikaryon;GO:0098552 side of membrane", "go_biological_process": "GO:0030316 osteoclast differentiation;GO:0007267 cell-cell signaling;GO:0048013 ephrin receptor signaling pathway;GO:0046849 bone remodeling;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "O43921-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60469-1", "uniprot_id": "DSCAM_HUMAN", "mass": 222260.0, "length": 2012, "protein_name": "Cell adhesion molecule DSCAM", "gene_name": "DSCAM", "organism": "Human", "refseq_name": "cell adhesion molecule DSCAM isoform CHD2-42 precursor", "refseq_ac": "NP_001380", "gene_names_uniprotkb": "DSCAM", "gene_names_refseq": "CHD2-42; CHD2-52; CHD2; DSCAM", "protein_names_uniprotkb": "Cell adhesion molecule DSCAM; CHD2; Down syndrome cell adhesion molecule", "protein_names_refseq": "Down syndrome cell adhesion molecule; cell adhesion molecule DSCAM isoform CHD2-42 precursor; cell adhesion molecule DSCAM", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); Down syndrome (Disease Ontology:DOID:14250); alpha-mannosidosis (Disease Ontology:DOID:3413)", "pathway": " (hsa:1826); (R-HSA-376172)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10925149;11237011;11453658;12435380;15169762;17721508;18216854;18216855;18585357;19196994;22685302;29557506;32387766;34087483;34253863;34372727;34445216;35051231;35318648;35494241;38828726;9426258", "class_list": "", "function": "A specific promoter region directs expression of DSCAM in the developing choroid plexus and roof of the fourth ventricle, the floor plate of the fourth ventricle, pons and medulla oblongata, and the eye, limb buds, and dorsal root ganglion, [RefSeq, PubMed]; Cell adhesion molecule that plays a role in neuronal self-avoidance. Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Mediates within retinal amacrine and ganglion cell subtypes both isoneuronal self-avoidance for creating an orderly dendritic arborization and heteroneuronal self-avoidance to maintain the mosaic spacing between amacrine and ganglion cell bodies (PubMed:10925149). Receptor for netrin required for axon guidance independently of and in collaboration with the receptor DCC. Might also collaborate with UNC5C in NTN1-mediated axon repulsion independently of DCC (By similarity). In spinal cord development plays a role in guiding commissural axons projection and pathfinding across the ventral midline to reach the floor plate upon ligand binding (PubMed:18585357, PubMed:19196994). Mediates intracellular signaling by stimulating the activation of MAPK8 and MAP kinase p38 (PubMed:18585357, PubMed:19196994). Adhesion molecule that promotes lamina-specific synaptic connections in the retina: expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, PubMed]; Dysfunction of NMDA receptors in neuronal models of an autism spectrum disorder patient with a DSCAM mutation and in Dscam-knockout mice., [RefSeq, PubMed]; Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes. Publication Status: Online-Only, [RefSeq, PubMed]; Long non-coding RNA Down syndrome cell adhesion molecule-anti-sense 1 promotes gastric carcinoma cell proliferation and migration by regulating the miR-204/TPT1 axis., [RefSeq, PubMed]; Role of DSCAM in the Development of Neural Control of Movement and Locomotion. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The specificity of Drosophila Dscam is due to complementarity of variable residues in epitope I., [RefSeq, PubMed]; This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]., [RefSeq]", "predicted_glycosites": 18, "predicted_n_glycosites": 17, "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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 145, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "O60468", "ec_number_list": "", "go_molecular_function": "GO:0098632 cell-cell adhesion mediator activity;GO:1990782 protein tyrosine kinase binding;GO:1990890 netrin receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon;GO:0030425 dendrite", "go_biological_process": "GO:0007155 cell adhesion;GO:0007162 negative regulation of cell adhesion;GO:0007399 nervous system development;GO:0007417 central nervous system development;GO:0007416 synapse assembly", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "O60469-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IVI9-1", "uniprot_id": "NOSTN_HUMAN", "mass": 57660.0, "length": 506, "protein_name": "Nostrin", "gene_name": "NOSTRIN", "organism": "Human", "refseq_name": "nostrin isoform 2", "refseq_ac": "NP_001034813", "gene_names_uniprotkb": "NOSTRIN", "gene_names_refseq": "DaIP2; NOSTRIN", "protein_names_uniprotkb": "Nostrin; BM247 homolog; Nitric oxide synthase traffic inducer; Nitric oxide synthase trafficker; eNOS-trafficking inducer", "protein_names_refseq": "BM247 homolog; ENOS traffic inducer; eNOS-trafficking inducer; endothelial nitric oxide synthase traffic inducer; nitric oxide synthase trafficker; nostrin isoform 2; ortholog of mouse disabled 2 interacting proein 2", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061)", "pathway": " (hsa:115677); (R-HSA-203641)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "11237011;11489260;12446846;15847871;16234328;16376344;16722822;16807357;18980613;27401251;28981819;29393594;29557506;29786170;30429286;31848261;32157095;33630763;34185709;35051231;35494241;35580925;35642021;36010968", "class_list": "", "function": "A ternary complex between NOSTRIN, caveolin-1, and eNOS mediates translocation of eNOS, with important implications for the activity and availability of eNOS in the cell., [RefSeq, PubMed]; Multivalent adapter protein which may decrease NOS3 activity by inducing its translocation away from the plasma membrane., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; NOSTRIN inhibited production of nitric oxide (NO) by suppressing the activation of endothelial nitric oxide synthase (eNOS)., [RefSeq, PubMed]; NOSTRIN may facilitate endocytosis of endothelial nitric oxide synthase by coordinating the function of dynamin and the actin nucleation promoting factor N-WASP., [RefSeq, PubMed]; NOSTRIN modulates nitric oxide release and subcellular distribution of endothelial nitric oxide synthase., [RefSeq, PubMed]; Nitric oxide (NO) is a potent mediator in biologic processes such as neurotransmission, inflammatory response, and vascular homeostasis. NOSTRIN binds the enzyme responsible for NO production, endothelial NO synthase (ENOS; MIM 163729), and triggers the translocation of ENOS from the plasma membrane to vesicle-like subcellular structures, thereby attenuating ENOS-dependent NO production.[supplied by OMIM, Apr 2004]., [RefSeq]; Nitric-Oxide Synthase trafficking inducer (NOSTRIN) is an emerging negative regulator of colon cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; The suggest that scores obtained with the worst nostril are the most efficient in detecting an olfactory 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8K2I9;B3KSF5;E7EPT9;Q27HG3;Q53S62;Q96CJ9", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0030666 endocytic vesicle membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0006897 endocytosis;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8IVI9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75962-1", "uniprot_id": "TRIO_HUMAN", "mass": 346900.0, "length": 3097, "protein_name": "Triple functional domain protein", "gene_name": "TRIO", "organism": "Human", "refseq_name": "triple functional domain protein", "refseq_ac": "NP_009049", "gene_names_uniprotkb": "TRIO", "gene_names_refseq": "ARHGEF23; MEBAS; MRD44; MRD63; TRIO; tgat", "protein_names_uniprotkb": "Triple functional domain protein; 2.7.11.1; PTPRF-interacting protein", "protein_names_refseq": "PTPRF-interacting protein; triple functional domain (PTPRF interacting); triple functional domain protein", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 63 with macrocephaly (Disease Ontology:DOID:0061036); autosomal dominant intellectual developmental disorder 44 (Disease Ontology:DOID:0070074); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:7204); (R-HSA-193648); (R-HSA-416476); (R-HSA-416482); (R-HSA-418885); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013408); (R-HSA-9013409); (R-HSA-9013423)", "pathway_count": 12, "publication_count": 515, "publication_id_list": 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"class_list": "", "function": "Autoinhibition of the GEF activity of cytoskeletal regulatory protein Trio is disrupted in neurodevelopmental disorder-related genetic variants., [RefSeq, PubMed]; Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach. Publication Status: Online-Only, [RefSeq, PubMed]; Guanine nucleotide exchange factor (GEF) for RHOA and RAC1 GTPases (PubMed:22155786, PubMed:27418539, PubMed:8643598). Involved in coordinating actin remodeling, which is necessary for cell migration and growth (PubMed:10341202, PubMed:22155786). Plays a key role in the regulation of neurite outgrowth and lamellipodia formation (PubMed:32109419). In developing hippocampal neurons, limits dendrite formation, without affecting the establishment of axon polarity. Once dendrites are formed, involved in the control of synaptic function by regulating the endocytosis of AMPA-selective glutamate receptors (AMPARs) at CA1 excitatory synapses (By similarity). May act as a regulator of adipogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo., [RefSeq, PubMed]; Rho-GEF Trio regulates osteosarcoma progression and osteogenic differentiation through Rac1 and RhoA. Publication Status: Online-Only, [RefSeq, PubMed]; Structural/functional studies of Trio provide insights into its configuration and show that conserved linker elements enhance its activity for Rac1., [RefSeq, PubMed]; This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. 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": 17, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 69, "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": "D3DTD1;Q13458;Q59EQ7;Q6PJC9;Q6ZN05;Q8IWK8", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;3.6.5.2;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;3.6.5.-;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0106310 protein serine kinase activity;GO:0016301 kinase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048786 presynaptic active zone;GO:0098794 postsynapse", "go_biological_process": "GO:0007185 cell surface receptor protein tyrosine phosphatase signaling pathway;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0048812 neuron projection morphogenesis;GO:0045599 negative regulation of fat cell differentiation;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 51.8, "record_id": "O75962-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13224-1", "uniprot_id": "NMDE2_HUMAN", "mass": 166367.0, "length": 1484, "protein_name": "Glutamate receptor ionotropic, NMDA 2B", "gene_name": "GRIN2B", "organism": "Human", "refseq_name": "glutamate receptor ionotropic, NMDA 2B isoform a precursor", "refseq_ac": "NP_000825", "gene_names_uniprotkb": "GRIN2B; NMDAR2B", "gene_names_refseq": "DEE27; EIEE27; GRIN2B; GluN2B; MRD6; NMDAR2B; NR2B; NR3; hNR3", "protein_names_uniprotkb": "Glutamate receptor ionotropic, NMDA 2B; GluN2B; Glutamate [NMDA] receptor subunit epsilon-2; N-methyl D-aspartate receptor subtype 2B; N-methyl-D-aspartate receptor subunit 3; NMDAR2B; NR2B; NR3; hNR3", "protein_names_refseq": "GluN2B(alt_5'UTR); N-methyl D-aspartate receptor subtype 2B; N-methyl-D-aspartate receptor subunit 3; glutamate [NMDA] receptor subunit epsilon-2; glutamate receptor ionotropic, NMDA 2B isoform a precursor; glutamate receptor ionotropic, NMDA 2B; glutamate receptor subunit epsilon-2; glutamate receptor, ionotropic, N-methyl D-aspartate 2B", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); nicotine dependence (Disease Ontology:DOID:0050742); withdrawal disorder (Disease Ontology:DOID:0060001); developmental disorder of mental health (Disease Ontology:DOID:0060037); autosomal dominant intellectual developmental disorder 6 (Disease Ontology:DOID:0070036); developmental and epileptic encephalopathy 27 (Disease Ontology:DOID:0080444); retinitis pigmentosa (Disease Ontology:DOID:10584); Alzheimer's disease (Disease Ontology:DOID:10652); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); opioid abuse (Disease Ontology:DOID:11206); sciatic neuropathy (Disease Ontology:DOID:11446); Huntington's disease (Disease Ontology:DOID:12858); cognitive disorder (Disease Ontology:DOID:1561); alcohol use disorder (Disease Ontology:DOID:1574); epilepsy (Disease Ontology:DOID:1826); transient cerebral ischemia (Disease Ontology:DOID:224); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); bipolar disorder (Disease Ontology:DOID:3312); temporal lobe epilepsy (Disease Ontology:DOID:3328); placental insufficiency (Disease Ontology:DOID:3891); egg allergy (Disease Ontology:DOID:4377); schizophrenia (Disease Ontology:DOID:5419); vascular dementia (Disease Ontology:DOID:8725); hyperhomocysteinemia (Disease Ontology:DOID:9279); cannabis abuse (Disease Ontology:DOID:9505); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976); hypoglycemia (Disease Ontology:DOID:9993)", "pathway": " (hsa:2904); (R-HSA-3928662); (R-HSA-438066); (R-HSA-442982); (R-HSA-5673001); (R-HSA-6794361); (R-HSA-8849932); (R-HSA-9022699); (R-HSA-9032500); (R-HSA-9609736); (R-HSA-9617324); (R-HSA-9620244)", "pathway_count": 12, "publication_count": 180, "publication_id_list": "10219243;10373510;10508167;10748157;10764765;10869344;10995436;11024032;11027663;11058585;11090077;11134074;11136978;11237011;11306676;11313946;11483655;11546808;11580899;11604393;11702783;11747816;11804587;12032311;12094235;12121613;12147342;12546821;12702722;12807427;12815021;14506247;14622581;14707138;14988728;15356145;15378065;1545823;15537897;15540461;15546878;15548136;15721239;15866054;16190898;16242404;16298995;16495444;16624946;16627759;16630835;16684964;16846852;17145509;1716764;17440041;17548511;17855605;17897391;17997397;17998941;18227064;18691323;18775330;18812509;18829961;1898771;19279408;19553453;19661068;19681166;19920141;20064387;20064388;20141836;20478380;20519524;20600927;20869595;20890276;21102635;21282647;21372320;21610080;21768120;21779497;21779505;21993244;2201922;22179603;22427672;22569528;22589270;22750304;22833210;23033978;23085545;23103841;23160955;23303910;23443682;23575685;24150225;24272827;24607229;24863970;24897931;24937142;24964855;25219551;25356899;25378172;25424712;25576301;25781681;25941471;26085527;26165472;26214522;26229100;26321637;26875626;26912815;26919761;27458189;27634008;27818011;27839871;27864847;27998718;28095420;28121444;28126851;28130356;28449373;28731405;28778966;29393594;29557506;30590034;30784271;31135801;31848261;32502341;33936100;34321660;34561969;34932366;35051231;36010968;38538865;38731978;38836461;6148751;7478585;7569905;7695896;7736595;7809086;7935463;7959773;7972015;7999784;8052307;8394845;8493579;8576240;8601796;8665852;8710374;8768735;8939933;8940188;9069287;9547169;9604935;9648857;9808458;9927426;9927700", "class_list": "", "function": "Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+) (PubMed:24272827, PubMed:24863970, PubMed:26875626, PubMed:26919761, PubMed:27839871, PubMed:28095420, PubMed:28126851, PubMed:38538865, PubMed:8768735). Participates in synaptic plasticity for learning and memory formation by contributing to the long-term depression (LTD) of hippocampus membrane currents (By similarity). Channel activation requires binding of the neurotransmitter L-glutamate to the GluN2 subunit, glycine or D-serine binding to the GluN1 subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:24272827, PubMed:24863970, PubMed:26875626, PubMed:26919761, PubMed:27839871, PubMed:28095420, PubMed:28126851, PubMed:38538865, PubMed:8768735). NMDARs mediate simultaneously the potassium efflux and the influx of calcium and sodium (By similarity). Each GluN2 subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, Ca2(+) permeability, and binding to allosteric modulators (PubMed:26875626, PubMed:28095420, PubMed:28126851, PubMed:38538865, PubMed:8768735). In concert with DAPK1 at extrasynaptic sites, acts as a central mediator for stroke damage. Its phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity inducing injurious Ca2+ influx through them, resulting in an irreversible neuronal death (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology. Review article, [RefSeq, PubMed]; Dual Role of NMDAR Containing NR2A and NR2B Subunits in Alzheimer's Disease. Publication Status: Online-Only, [RefSeq, PubMed]; In this review, mutations in GRIN2B were described as distributed throughout the entire gene in patients with neuropsychiatric and developmental disorders. Review article Erratum:[J Pharmacol Sci. 2017 Apr;133(4):280. doi: 10.1016/j.jphs.2017.04.001. PMID: 28434657], [RefSeq, 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 member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017]., [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": 46, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 87, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 28, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q12919;Q13220;Q13225;Q14CU4;Q9UM56", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0022849 glutamate-gated calcium ion channel activity;GO:0008270 zinc ion binding;GO:0001540 amyloid-beta binding;GO:0016594 glycine binding;GO:0016595 glutamate binding", "go_cellular_component": "GO:0017146 NMDA selective glutamate receptor complex;GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005929 cilium", "go_biological_process": "GO:0098976 excitatory chemical synaptic transmission;GO:0007611 learning or memory;GO:0035235 ionotropic glutamate receptor signaling pathway;GO:0045471 response to ethanol;GO:0060079 excitatory postsynaptic potential", "synthesized_glycan_count": 0, "hit_score": 18.6, "record_id": "Q13224-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q12879-1", "uniprot_id": "NMDE1_HUMAN", "mass": 165283.0, "length": 1464, "protein_name": "Glutamate receptor ionotropic, NMDA 2A", "gene_name": "GRIN2A", "organism": "Human", "refseq_name": "glutamate receptor ionotropic, NMDA 2A isoform 1 precursor", "refseq_ac": "NP_000824", "gene_names_uniprotkb": "GRIN2A; NMDAR2A", "gene_names_refseq": "EPND; FESD; GRIN2A; GluN2A; LKS; NMDAR2A; NR2A", "protein_names_uniprotkb": "Glutamate receptor ionotropic, NMDA 2A; GluN2A; Glutamate [NMDA] receptor subunit epsilon-1; N-methyl D-aspartate receptor subtype 2A; NMDAR2A; NR2A; hNR2A", "protein_names_refseq": "N-methyl D-aspartate receptor subtype 2A; N-methyl-D-aspartate receptor channel, subunit epsilon-1; N-methyl-D-aspartate receptor subunit 2A; glutamate ionotropic receptor NMDA 2A; glutamate receptor ionotropic, NMDA 2A isoform 1 precursor; glutamate receptor ionotropic, NMDA 2A; glutamate receptor, ionotropic, N-methyl D-aspartate 2A", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); withdrawal disorder (Disease Ontology:DOID:0060001); developmental disorder of mental health (Disease Ontology:DOID:0060037); Alzheimer's disease (Disease Ontology:DOID:10652); opioid abuse (Disease Ontology:DOID:11206); Huntington's disease (Disease Ontology:DOID:12858); cognitive disorder (Disease Ontology:DOID:1561); alcohol use disorder (Disease Ontology:DOID:1574); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); post-traumatic stress disorder (Disease Ontology:DOID:2055); transient cerebral ischemia (Disease Ontology:DOID:224); Landau-Kleffner syndrome (Disease Ontology:DOID:2538); bipolar disorder (Disease Ontology:DOID:3312); placental insufficiency (Disease Ontology:DOID:3891); schizophrenia (Disease Ontology:DOID:5419); vascular dementia (Disease Ontology:DOID:8725); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); hyperhomocysteinemia (Disease Ontology:DOID:9279); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:2903); (R-HSA-438066); (R-HSA-6794361); (R-HSA-8849932); (R-HSA-9022699); (R-HSA-9609736); (R-HSA-9617324); (R-HSA-9620244)", "pathway_count": 8, "publication_count": 98, "publication_id_list": "10195142;10846184;11104776;11237011;11604393;11675505;12147342;12807427;12815021;15540461;16242404;16495444;16624946;16630835;16846852;17081983;17287340;17855605;17897391;17997397;18227064;18812509;18829961;19681166;19834457;20064387;20064388;20448061;20519524;20585660;20600927;20890276;21282647;21499247;22833210;23033978;23933818;23933819;23933820;24150225;24190977;24455489;24504326;24903190;25378172;25424712;26214522;26321637;26637798;26875626;26919761;27288002;27839871;27864847;28095420;28105280;28126851;28182669;28242877;28411811;28449373;29557506;29644724;30315122;30544257;30590034;31518901;31844290;32357974;32502341;32877683;33141586;33298915;33912179;34186027;34211107;34233182;35051231;35396579;35580925;36117210;37217939;38307912;38319733;38538865;38731978;38836461;7569905;7695896;7736595;8061049;8576240;8601796;8768735;9069287;9648857;9808458;9927700", "class_list": "", "function": "Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+) (PubMed:20890276, PubMed:23933818, PubMed:23933819, PubMed:23933820, PubMed:24504326, PubMed:26875626, PubMed:26919761, PubMed:28242877, PubMed:36117210, PubMed:38538865, PubMed:8768735). NMDARs participate in synaptic plasticity for learning and memory formation by contributing to the slow phase of excitatory postsynaptic current, long-term synaptic potentiation, and learning (By similarity). Channel activation requires binding of the neurotransmitter L-glutamate to the GluN2 subunit, glycine or D-serine binding to the GluN1 subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:23933818, PubMed:23933819, PubMed:23933820, PubMed:24504326, PubMed:26875626, PubMed:26919761, PubMed:27288002, PubMed:28095420, PubMed:28105280, PubMed:28126851, PubMed:28182669, PubMed:29644724, PubMed:38307912, PubMed:8768735). NMDARs mediate simultaneously the potassium efflux and the influx of calcium and sodium (By similarity). Each GluN2 subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, Ca2(+) permeability, and binding to allosteric modulators (PubMed:26875626, PubMed:26919761). Participates in the synaptic plasticity regulation through activation by the L-glutamate releaseed by BEST1, into the synaptic cleft, upon F2R/PAR-1 activation in astrocyte (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. Publication Status: Online-Only, [RefSeq, PubMed]; Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders. Publication Status: Online-Only, [RefSeq, PubMed]; Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology. Review article, [RefSeq, PubMed]; Dual Role of NMDAR Containing NR2A and NR2B Subunits in Alzheimer's Disease. Publication Status: Online-Only, [RefSeq, PubMed]; METTL14-mediated m6A epitranscriptomic modification contributes to chemotherapy-induced neuropathic pain by stabilizing GluN2A expression via IGF2BP2. Publication Status: Online-Only, [RefSeq, 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]; This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]., [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": 4, "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": 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": 25, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 214, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 21, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "O00669;Q17RZ6", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0022849 glutamate-gated calcium ion channel activity;GO:0008270 zinc ion binding;GO:0001540 amyloid-beta binding;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0004972 NMDA glutamate receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0017146 NMDA selective glutamate receptor complex;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0014069 postsynaptic density", "go_biological_process": "GO:0098976 excitatory chemical synaptic transmission;GO:0007611 learning or memory;GO:0035235 ionotropic glutamate receptor signaling pathway;GO:0045471 response to ethanol;GO:0060079 excitatory postsynaptic potential", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q12879-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TAA9-1", "uniprot_id": "VANG1_HUMAN", "mass": 59975.0, "length": 524, "protein_name": "Vang-like protein 1", "gene_name": "VANGL1", "organism": "Human", "refseq_name": "vang-like protein 1 isoform 2", "refseq_ac": "NP_001165882", "gene_names_uniprotkb": "VANGL1; STB2", "gene_names_refseq": "KITENIN; LPP2; STB2; STBM2; VANGL1", "protein_names_uniprotkb": "Vang-like protein 1; LPP2; Loop-tail protein 2 homolog; Strabismus 2; Van Gogh-like protein 1", "protein_names_refseq": "KAI1 C-terminal interacting tetraspanin; loop-tail protein 2 homolog; strabismus 2; van Gogh-like protein 1; vang-like 1 (van gogh, Drosophila); vang-like protein 1 isoform 2; vang-like protein 1", "tax_id": 9606, "disease": "neural tube defect (Disease Ontology:DOID:0080074); caudal regression syndrome (Disease Ontology:DOID:0080700); familial caudal dysgenesis (MONDO:MONDO:0010831); neural tube defects, susceptibility to (MONDO:MONDO:0020705)", "pathway": " (hsa:81839); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013405); (R-HSA-9013406); (R-HSA-9013407); (R-HSA-9013408); (R-HSA-9013409); (R-HSA-9013420); (R-HSA-9013423); (R-HSA-9013424); (R-HSA-9035034); (R-HSA-9696264); (R-HSA-9696270); (R-HSA-9696273)", "pathway_count": 19, "publication_count": 454, "publication_id_list": 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"class_list": "", "function": "Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations., [RefSeq, PubMed]; Deletions in VANGL1 are a risk factor for antibody-mediated kidney disease. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of circular RNA VANGL1 inhibits TGF-beta-induced epithelial-mesenchymal transition in melanoma cells by sponging miR-150-5p., [RefSeq, PubMed]; Molecular cloning and characterization of Strabismus 2, [RefSeq, PubMed]; Myelomeningocele among Pakistani population., [RefSeq, PubMed]; This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]., [RefSeq]; VANGL protein may serve as an effector mediating the intestinal trefoil factor (ITF) healing response of the intestinal mucosa., [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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5T1D3;Q5T1D4;Q86WG8;Q8N559", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016328 lateral plasma membrane", "go_biological_process": "GO:0060071 Wnt signaling pathway, planar cell polarity pathway", "synthesized_glycan_count": 0, "hit_score": 45.7, "record_id": "Q8TAA9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZV4-1", "uniprot_id": "IF5A2_HUMAN", "mass": 16793.0, "length": 153, "protein_name": "Eukaryotic translation initiation factor 5A-2", "gene_name": "EIF5A2", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 5A-2", "refseq_ac": "NP_065123", "gene_names_uniprotkb": "EIF5A2", "gene_names_refseq": "EIF-5A2; EIF5A2; eIF5AII", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 5A-2; Eukaryotic initiation factor 5A isoform 2; eIF-5A-2; eIF-5A2", "protein_names_refseq": "eIF-5A-2; eukaryotic initiation factor 5A; eukaryotic translation initiation factor 5A-2", "tax_id": 9606, "disease": "pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498)", "pathway": " (hsa:56648); (R-HSA-204626)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "11161802;11237011;11325856;12788913;14622290;15205331;16169419;16408927;16452303;16519677;16533814;17213197;28467828;31844290;32938616;33214551;33298915;33592498;33968037;34357683;37500510;37656330;38058082;38506035;38584230;7673224;9188485", "class_list": "", "function": "EIF-5A2 overexpression was significantly associated with the advanced stage of ovarian cancer., [RefSeq, PubMed]; EIF5A2 Promotes Doxorubicin Resistance in Bladder Cancer Cells through the TGF-beta Signaling Pathway., [RefSeq, PubMed]; Eukaryotic initiation factor 5A (eIF5A) (eIF-4D, eIF-5A) stimulates ribosomal peptidyltransferase activity, transport of HIV-1-mRNAs and binds exportins 1 and 4. Contains hypusine at lys 50. Human EIF5A1 and EIF5A2 encode two isoforms: eIF5AI and eIF5AII., [RefSeq, PubMed]; Long non-coding RNA RAD51-AS1 promotes the tumorigenesis of ovarian cancer by elevating EIF5A2 expression. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-5189-3p Suppresses cell Proliferation, Invasion and Migration Through Targeting EIF5A2 in Laryngeal Squamous Cell Carcinoma., [RefSeq, PubMed]; MicroRNA-15a-5p suppresses hypoxia-induced tumor growth and chemoresistance in bladder cancer by binding to eIF5A2., [RefSeq, PubMed]; MicroRNA-577/EIF5A2 axis suppressed the proliferation of DDP-resistant nasopharyngeal carcinoma cells by blocking TGF-beta signaling pathway., [RefSeq, PubMed]; Role in eukaryotic cell survival similar to that of the ubiquitous eIF5A-1, [RefSeq, PubMed]; Translation factor that promotes translation elongation and termination, particularly upon ribosome stalling at specific amino acid sequence contexts. Binds between the exit (E) and peptidyl (P) site of the ribosome and promotes rescue of stalled ribosome: specifically required for efficient translation of polyproline-containing peptides as well as other motifs that stall the ribosome. Acts as ribosome quality control (RQC) cofactor by joining the RQC complex to facilitate peptidyl transfer during CAT tailing step., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, 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": 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": "B2R4V5", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003746 translation elongation factor activity;GO:0043022 ribosome binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0006414 translational elongation;GO:0045901 positive regulation of translational elongation;GO:0045905 positive regulation of translational termination", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9GZV4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WVC0-1", "uniprot_id": "LEO1_HUMAN", "mass": 75404.0, "length": 666, "protein_name": "RNA polymerase-associated protein LEO1", "gene_name": "LEO1", "organism": "Human", "refseq_name": "RNA polymerase-associated protein LEO1 isoform 2", "refseq_ac": "NP_001273359", "gene_names_uniprotkb": "LEO1; RDL", "gene_names_refseq": "LEO1; RDL", "protein_names_uniprotkb": "RNA polymerase-associated protein LEO1; Replicative senescence down-regulated leo1-like protein", "protein_names_refseq": "LEO1 homolog, Paf1/RNA polymerase II complex component; Leo1 Paf1/RNA polymerase II complex component; Leo1, Paf1/RNA polymerase II complex component, homolog; RNA polymerase-associated protein LEO1 isoform 2; RNA polymerase-associated protein LEO1; replicative senescence down-regulated leo1-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:123169); (R-HSA-112382); (R-HSA-201722); (R-HSA-674695); (R-HSA-75955); (R-HSA-8866654); (R-HSA-9920588); (R-HSA-9943411)", "pathway_count": 8, "publication_count": 190, "publication_id_list": "10080941;10199401;10199952;10485845;10562279;10769018;10775268;10831834;11050151;11080158;11136974;11313498;11313499;11532957;11713476;11740563;11859374;11884399;11934263;11955446;11973335;11988739;12163411;12676794;12682017;14695187;15060161;15121853;15215855;15215856;15294866;15302935;15489290;15632063;15647753;15768032;15791002;15829968;16005293;16169192;16263726;16307923;16372014;16510874;16630820;16756492;16868077;16964243;17052462;17081983;17108083;17130289;17234882;17322306;17425782;17428831;17433364;17458864;17717186;17726030;18042460;18160704;18212344;18316726;18318008;18347063;18359941;18404694;18452278;18496526;18498752;18669648;18719106;18767875;19007248;19148484;19208625;19345177;1939271;19410543;19413330;19415658;19460168;19487454;19493659;19571879;19651622;19664994;19690332;19691289;19723507;19754307;19952111;20068231;20159561;20166139;20178742;20211137;21203937;21329877;21396873;21406692;21554508;21566123;21654818;21726809;22021426;22046413;22186018;22190459;22569126;22617422;22922743;22982193;23186163;23301498;23481700;24173023;24275569;24366607;2449431;24662292;24807418;24979766;25030448;25170678;25576301;25880248;25936802;26086376;26210183;26216882;26344566;26350214;26659056;26711259;26992070;27569044;27597759;27661449;27798111;27832191;27846572;27862975;28510447;28764923;29437277;29557506;30429286;30550790;31844290;31867016;32152943;32157095;32387766;32432721;32502341;32778820;32938616;32983136;33392160;33592498;33912179;33981976;34096589;34561969;34932366;35051231;35580925;36284347;37205756;38002344;40914422;7660122;7660129;7660130;8370526;8625414;8756721;8757136;8955148;8991089;9118222;9450929;9488439;9489704;9490669;9751710;9819412;9843967", "class_list": "", "function": "CDK12 and Integrator-PP2A complex modulates LEO1 phosphorylation for processive transcription elongation., [RefSeq, PubMed]; Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both independently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Involved in polyadenylation of mRNA precursors. Connects PAF1C to Wnt signaling., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; LEO1 Is Required for Efficient Entry into Quiescence, Control of H3K9 Methylation and Gene Expression in Human Fibroblasts. Publication Status: Online-Only, [RefSeq, PubMed]; LEO1 is a partner for Cockayne syndrome protein B (CSB) in response to transcription-blocking DNA damage., [RefSeq, PubMed]; LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 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": 42, "reported_mutagensis": 0, "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": "Q96N99", "ec_number_list": "", "go_molecular_function": "GO:1990269 RNA polymerase II C-terminal domain phosphoserine binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0001650 fibrillar center;GO:0016593 Cdc73/Paf1 complex", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0016055 Wnt signaling pathway;GO:0019827 stem cell population maintenance;GO:0006368 transcription elongation by RNA polymerase II;GO:0001711 endodermal cell fate commitment", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "Q8WVC0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N112-1", "uniprot_id": "LSME2_HUMAN", "mass": 17868.0, "length": 164, "protein_name": "Leucine-rich single-pass membrane protein 2", "gene_name": "LSMEM2", "organism": "Human", "refseq_name": "leucine-rich single-pass membrane protein 2 isoform 2", "refseq_ac": "NP_001291314", "gene_names_uniprotkb": "LSMEM2; C3orf45", "gene_names_refseq": "C3orf45; LSMEM2", "protein_names_uniprotkb": "Leucine-rich single-pass membrane protein 2", "protein_names_refseq": "leucine-rich single-pass membrane protein 2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:132228)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "29557506", "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": "Q8N112-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NX38-1", "uniprot_id": "ABITM_HUMAN", "mass": 20378.0, "length": 181, "protein_name": "Protein Abitram", "gene_name": "ABITRAM", "organism": "Human", "refseq_name": "protein Abitram isoform 1", "refseq_ac": "NP_060302", "gene_names_uniprotkb": "ABITRAM; C9orf6; FAM206A", "gene_names_refseq": "ABITRAM; C9orf6; CG-8; FAM206A; Simiate", "protein_names_uniprotkb": "Protein Abitram; Actin-binding transcription modulator; Protein Simiate", "protein_names_refseq": "family with sequence similarity 206 member A; protein Abitram isoform 1; protein Abitram; protein FAM206A; protein Simiate", "tax_id": 9606, "disease": "", "pathway": " (hsa:54942)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;23481700;24349419;25576301;26992070;27600516;28832583;28834231;29242379;29393594;29508533;29557506;31154438;31844290;31848261;32157095;32161166;32897882;32938616;33141586;33691108;33912179;34509645;35580925", "class_list": "", "function": "Actin-binding protein that regulates actin polymerization, filopodia dynamics and increases the branching of proximal dendrites of developing neurons., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q5JTR0;Q5JTR1", "ec_number_list": "", "go_molecular_function": "GO:0003785 actin monomer binding;GO:0051015 actin filament binding;GO:0003779 actin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0016607 nuclear speck;GO:0030027 lamellipodium;GO:0030425 dendrite;GO:0030426 growth cone", "go_biological_process": "GO:0048813 dendrite morphogenesis;GO:0051489 regulation of filopodium assembly;GO:0030833 regulation of actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9NX38-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96GA3-1", "uniprot_id": "LTV1_HUMAN", "mass": 54855.0, "length": 475, "protein_name": "Protein LTV1 homolog", "gene_name": "LTV1", "organism": "Human", "refseq_name": "protein LTV1 homolog isoform 1", "refseq_ac": "NP_116249", "gene_names_uniprotkb": "LTV1; C6orf93", "gene_names_refseq": "C6orf93; IPHAK; LTV1; dJ468K18.4", "protein_names_uniprotkb": "Protein LTV1 homolog", "protein_names_refseq": "protein LTV1 homolog isoform 1; protein LTV1 homolog", "tax_id": 9606, "disease": "inflammatory poikiloderma with hair abnormalities and acral keratoses (Disease Ontology:DOID:0070510)", "pathway": " (hsa:84946); (R-HSA-6791226)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "11922599;12068309;12150911;16037817;16043514;16738141;17081983;17189298;17353269;17412707;18065403;18438418;18452278;19106111;19332556;19564402;19651622;19690332;19801658;20038530;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22072790;22190735;22195017;22916032;23186163;23301498;23439679;23481700;23482395;2388630;24424021;24550520;24715725;25418920;25525153;25810538;25880248;25969445;26154972;26237581;26375851;26992070;27600516;28904123;29242379;29437277;29493099;29557506;30315122;30348748;30410026;30779550;30833945;31154438;31217245;31530632;31844290;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33537174;33592498;33912179;33936100;33968037;34171305;34185709;34999892;35051231;35251023;35580925;36010968;36284347;40914422;9482744", "class_list": "", "function": "Essential for ribosome biogenesis., [UniProtKB, UniProtKB]; Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder., [RefSeq, PubMed]; Ribosome biogenesis factor Ltv1 chaperones the assembly of the small subunit head., [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": 13, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96JX8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0030688 preribosome, small subunit precursor", "go_biological_process": "GO:0042254 ribosome biogenesis;GO:0000056 ribosomal small subunit export from nucleus;GO:0042274 ribosomal small subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q96GA3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92541-1", "uniprot_id": "RTF1_HUMAN", "mass": 80313.0, "length": 710, "protein_name": "RNA polymerase-associated protein RTF1 homolog", "gene_name": "RTF1", "organism": "Human", "refseq_name": "RNA polymerase-associated protein RTF1 homolog", "refseq_ac": "NP_055953", "gene_names_uniprotkb": "RTF1; KIAA0252", "gene_names_refseq": "GTL7; KIAA0252; RTF1", "protein_names_uniprotkb": "RNA polymerase-associated protein RTF1 homolog", "protein_names_refseq": "RNA polymerase-associated protein RTF1 homolog; Rtf1, Paf1/RNA polymerase II complex component, homolog; ortholog of mouse gene trap locus 7", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:23168); (R-HSA-112382); (R-HSA-674695); (R-HSA-75955); (R-HSA-8866654); (R-HSA-9920588); (R-HSA-9943411)", "pathway_count": 7, "publication_count": 161, "publication_id_list": "10199401;10199952;10562279;11237011;11313498;11313499;11740563;11859374;11884399;12676794;12682017;15215855;15215856;15489290;15647753;16263726;16307923;16372014;16868077;17081983;17108083;17130289;17234882;17433364;17717186;17726030;18042460;18077418;18184592;18212344;18316726;18359941;18452278;18496526;18669648;18719106;19208625;19345177;1939271;19410543;19651622;19723507;19754307;19952111;20068231;20159561;20178742;20211137;21203937;21329877;21396873;21406692;21554508;21566123;22021426;22046413;22569126;22922743;23186163;23301498;24173023;2449431;24662292;24715725;24807418;24979766;25030448;25170678;25892735;25936802;26086376;26154972;26210183;26216882;26217014;26344566;26350214;26659056;26711259;26992070;27569044;27597759;27600516;27661449;27798111;27832191;27846572;27920218;28063628;28228285;28489076;28510447;28514659;28764923;28832583;28834231;29242379;29393594;29493099;29557506;29632046;29769354;29786170;30059200;30315122;30379171;30429286;30484775;30550790;30620550;31092671;31154438;31373491;31492838;31530632;31844290;31848261;31867016;32152943;32157095;32161166;32265295;32387766;32432721;32488085;32541898;32778820;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34146481;34171305;35051231;35132862;35254053;35318648;35580925;36010968;36284347;36581221;37938771;38665916;39531497;40307207;40914422;7660122;7660129;7660130;8370526;8625414;8991089;9450929;9489704", "class_list": "", "function": "Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both independently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Binds single-stranded DNA. Required for maximal induction of heat-shock genes. Required for the trimethylation of histone H3 'Lys-4' (H3K4me3) on genes involved in stem cell pluripotency; this function is synergistic with CXXC1 indicative for an involvement of a SET1 complex (By similarity)., [UniProtKB, PubMed, PubMed]; Human Rtf1 as a transcription elongation factor. Erratum:[Mol Cell Biol. 2015 Dec;35(23):4093. doi: 10.1128/MCB.00914-15. PMID: 26518638], [RefSeq, PubMed]; Structure of complete Pol II-DSIF-PAF-SPT6 transcription complex reveals RTF1 allosteric activation., [RefSeq, PubMed]; This locus may represent a gene involved in regulation of transcription elongation and chromatin remodeling, based on studies of similar proteins in other organisms. The encoded protein may bind single-stranded DNA. [provided by RefSeq, Sep 2010]., [RefSeq]; Two distinct mechanisms of RNA polymerase II elongation stimulation in vivo., [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": 18, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 12, "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": "Q96BX6", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003697 single-stranded DNA binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016593 Cdc73/Paf1 complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0016055 Wnt signaling pathway;GO:0006325 chromatin organization;GO:0019827 stem cell population maintenance;GO:0006368 transcription elongation by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 16.6, "record_id": "Q92541-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13868-1", "uniprot_id": "EXOS2_HUMAN", "mass": 32789.0, "length": 293, "protein_name": "Exosome complex component RRP4", "gene_name": "EXOSC2", "organism": "Human", "refseq_name": "exosome complex component RRP4 isoform 2", "refseq_ac": "NP_001269637", "gene_names_uniprotkb": "EXOSC2; RRP4", "gene_names_refseq": "EXOSC2; RRP4; Rrp4p; SHRF; hRrp4p; p7", "protein_names_uniprotkb": "Exosome complex component RRP4; Exosome component 2; Ribosomal RNA-processing protein 4", "protein_names_refseq": "exosome complex component RRP4 isoform 2; exosome complex component RRP4; exosome complex exonuclease RRP4; homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4); homolog of yeast RRP4 (ribosomal RNA processing 4), 3'-5'-exoribonuclease; ribosomal RNA-processing protein 4", "tax_id": 9606, "disease": "short stature, hearing loss, retinitis pigmentosa, and distinctive facies (Disease Ontology:DOID:0081175); multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:23404); (R-HSA-380994); (R-HSA-429958); (R-HSA-450385); (R-HSA-450513); (R-HSA-450604); (R-HSA-6791226); (R-HSA-9930044)", "pathway_count": 8, "publication_count": 207, "publication_id_list": "10330172;10465791;10958673;11237011;11283721;11719186;11922599;12068309;12150911;12198173;12324455;12639954;12646273;12705825;12748283;14688255;14742429;14749774;14976220;15014438;15068804;15117938;15175153;15231747;15273322;15385533;15475613;15514971;15538381;15687258;15769464;15944294;16037817;16043514;16141059;16262601;16364914;16648466;16687408;16738141;16912112;16931790;16989641;17030608;17133347;17174896;17189298;17245413;17322306;17353269;17369404;17412707;17545563;18065403;18285520;18326031;18367721;18438418;18441014;18481987;18669648;18684992;18840095;19007248;19060886;19106111;19141871;19198587;19225159;19239894;19332556;19413330;19564402;19690332;19691289;19729507;19801658;19854161;20022965;20038530;20056613;20068231;20361218;20531386;20531389;20798176;20805244;20819938;21036871;21063389;21097556;21515746;21705430;21855801;22072790;22190735;22195017;22424782;22544926;22802018;22819556;22898188;22916032;22978410;23186163;23223233;23269699;23439679;23481700;23482395;2388630;24366607;24424021;24550520;24714562;24715725;25418920;25469497;25525153;25576301;25578728;25645385;25880248;25969445;26154972;26166824;26237581;26375851;2663993;2664463;26768311;26811146;26843489;26992070;27434818;27846572;27862975;27871484;27920218;28063628;28218747;28228285;28832583;28904123;29242379;29298432;29393594;29413899;29437277;29493099;29557506;29632046;29769354;29906447;30315122;30410026;30429286;30524438;30779550;31154438;31222486;31530632;31844290;31848261;31937595;31950173;32157095;32357974;32387766;32488085;32502341;3260265;32897882;32938616;33141586;33298915;33392160;33592498;33691108;33767452;33912179;33913806;33936100;33968037;33981976;34019948;34087483;34162742;34171305;34405274;34509645;34561969;35051231;35318648;35494241;35561310;35580925;36010968;36215666;36241425;36241641;37875486;37938771;40914422;8600032;9390555;9482744", "class_list": "", "function": "A budding yeast model for human disease mutations in the EXOSC2 cap subunit of the RNA exosome complex., [RefSeq, PubMed]; Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication. Publication Status: Online-Only, [RefSeq, PubMed]; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC2 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC4 and EXOSC7., [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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "A3KFL3;A3KFL4;B4DKK6;Q9NUY4", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0000175 3'-5'-RNA exonuclease activity;GO:0008312 7S RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006396 RNA processing;GO:0030307 positive regulation of cell growth;GO:0000956 nuclear-transcribed mRNA catabolic process;GO:0006364 rRNA processing;GO:0006401 RNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 21.0, "record_id": "Q13868-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P265-1", "uniprot_id": "DIP2B_HUMAN", "mass": 171492.0, "length": 1576, "protein_name": "Disco-interacting protein 2 homolog B", "gene_name": "DIP2B", "organism": "Human", "refseq_name": "disco-interacting protein 2 homolog B", "refseq_ac": "NP_775873", "gene_names_uniprotkb": "DIP2B; KIAA1463", "gene_names_refseq": "DIP2B", "protein_names_uniprotkb": "Disco-interacting protein 2 homolog B; DIP2 homolog B", "protein_names_refseq": "DIP2 disco-interacting protein 2 homolog B; disco interacting protein 2 homolog B; disco-interacting protein 2 homolog B; disconnected interacting protein 2 homolog B", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder type FRA12A (Disease Ontology:DOID:0061049)", "pathway": " (hsa:57609)", "pathway_count": 1, "publication_count": 94, "publication_id_list": "11237011;16115862;17081983;17236128;18669648;18691976;19413330;19690332;20068231;22869377;23186163;23481700;24366607;24397554;24714562;24715725;25418920;25576301;25645385;26154972;26375851;26811146;26929215;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30410026;30429286;30484775;30524438;30833945;31020640;31154438;31217245;31373491;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33481017;33537174;33592498;33912179;33936100;33968037;33981976;34171305;34211107;34357683;34405274;34561969;34725712;34932366;35051231;35154160;35251023;35254053;35318648;35494241;35580925;36010968;36215666;36241641;36284347;37938771;38838015", "class_list": "", "function": "Deficiency of DIP2B, a brain-expressed gene, may mediate the neurocognitive problems associated with FRA12A., [RefSeq, PubMed]; Multi-omics analysis to identify susceptibility genes for colorectal cancer., [RefSeq, PubMed]; Negatively regulates axonal outgrowth and is essential for normal synaptic transmission. Not required for regulation of axon polarity. Promotes acetylation of alpha-tubulin., [UniProtKB, UniProtKB]; This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 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": 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": 23, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "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": "Q6B011;Q8N1L5;Q8NB38", "ec_number_list": "", "go_molecular_function": "GO:0043014 alpha-tubulin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0030424 axon;GO:0030425 dendrite", "go_biological_process": "GO:0007399 nervous system development;GO:0030517 negative regulation of axon extension;GO:2000758 positive regulation of peptidyl-lysine acetylation", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q9P265-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5R4-1", "uniprot_id": "HEMK1_HUMAN", "mass": 38231.0, "length": 338, "protein_name": "MTRF1L release factor glutamine methyltransferase", "gene_name": "HEMK1", "organism": "Human", "refseq_name": "MTRF1L release factor glutamine methyltransferase isoform 1", "refseq_ac": "NP_001304780", "gene_names_uniprotkb": "HEMK1; HEMK", "gene_names_refseq": "HEMK1; HEMK; MPRMC; MTQ1", "protein_names_uniprotkb": "MTRF1L release factor glutamine methyltransferase; 2.1.1.297; HemK methyltransferase family member 1; M.HsaHemKP", "protein_names_refseq": "HEMK homolog 7kb; HemK methyltransferase family member 1; MTRF1L release factor glutamine methyltransferase isoform 1; MTRF1L release factor glutamine methyltransferase; m.HsaHemKP; testis secretory sperm-binding protein Li 225n", "tax_id": 9606, "disease": "", "pathway": " (hsa:51409)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;18541145;20877624;24715725;26375851;29242379;31844290;33912179;34932366;35260756;36241641", "class_list": "", "function": "Human mitochondrial methyltransferase, HMPrmC, which methylates the glutamine residue in the GGQ tripeptide motif of HMRF1L, was identified., [RefSeq, PubMed]; Mammalian HEMK1 methylates glutamine residue of the GGQ motif of mitochondrial release factors. Publication Status: Online-Only, [RefSeq, PubMed]; N5-glutamine methyltransferase responsible for the methylation of the glutamine residue in the universally conserved GGQ motif of the mitochondrial translation release factors MTRF1, MTRF1L, MRPL58/ICT1 and MTRFR., [UniProtKB, PubMed, PubMed]; Observational 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": 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": "2.1.1.297", "go_molecular_function": "GO:0003677 DNA binding;GO:0036009 protein-glutamine N-methyltransferase activity;GO:0102559 peptide chain release factor N(5)-glutamine methyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0006415 translational termination;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9Y5R4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N6F8-1", "uniprot_id": "MET27_HUMAN", "mass": 26522.0, "length": 245, "protein_name": "Methyltransferase-like protein 27", "gene_name": "METTL27", "organism": "Human", "refseq_name": "methyltransferase-like protein 27", "refseq_ac": "NP_689772", "gene_names_uniprotkb": "METTL27; WBSCR27", "gene_names_refseq": "METTL27; WBSCR27", "protein_names_uniprotkb": "Methyltransferase-like protein 27; Williams-Beuren syndrome chromosomal region 27 protein", "protein_names_refseq": "Williams Beuren syndrome chromosome region 27; methyltransferase-like protein 27; williams-Beuren syndrome chromosomal region 27 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:155368)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "18398435;24397554;29242379;32157095;33968037;35580925;36010968", "class_list": "", "function": "This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [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": 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_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8N6F8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NHU6-1", "uniprot_id": "TDRD7_HUMAN", "mass": 123586.0, "length": 1098, "protein_name": "Tudor domain-containing protein 7", "gene_name": "TDRD7", "organism": "Human", "refseq_name": "tudor domain-containing protein 7 isoform 2", "refseq_ac": "NP_001289813", "gene_names_uniprotkb": "TDRD7; PCTAIRE2BP", "gene_names_refseq": "CATC4; PCTAIRE2BP; TDRD7; TRAP", "protein_names_uniprotkb": "Tudor domain-containing protein 7; PCTAIRE2-binding protein; Trap; Tudor repeat associator with PCTAIRE-2", "protein_names_refseq": "PCTAIRE2-binding protein; epididymis secretory sperm binding protein; tudor domain-containing protein 7 isoform 2; tudor repeat associator with PCTAIRE 2", "tax_id": 9606, "disease": "cataract 36 (Disease Ontology:DOID:0110247)", "pathway": " (hsa:23424)", "pathway_count": 1, "publication_count": 78, "publication_id_list": "10727952;19413330;20302647;20305267;21436445;23186163;23481700;24435515;24715725;25120344;25418920;25880248;25892735;26154972;26375851;26929215;26992070;27543614;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30410026;30429286;30484775;30833945;31048812;31154438;31492838;31530632;31844290;31848261;32157095;32273341;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33618632;33691108;33717175;33912179;33968037;34087483;34171305;34185709;34211107;34357683;34509645;34932366;35051231;35580925;36010968;36241641;36284347;36581221", "class_list": "", "function": "Component of specific cytoplasmic RNA granules involved in post-transcriptional regulation of specific genes: probably acts by binding to specific mRNAs and regulating their translation. Required for lens transparency during lens development, by regulating translation of genes such as CRYBB3 and HSPB1 in the developing lens. Also required during spermatogenesis., [UniProtKB, PubMed]; Human cataracts and the TDRD7 gene loss-of-function mutations are strongly causally related, as the expression level of plasma TDRD7 mRNA in patients with cataracts was statistically significantly lower than in the normal control group., [RefSeq, PubMed]; Our purpose was to uncover novel human mutations and genes causing familial nonobstructive azoospermia and congenital cataract. Two novel loss-of-function mutations (c.324_325insA (T110Nfs*30) and c.688_689insA (p.Y230X), respectively) of TDRD7 were found in the affected patients, [RefSeq, PubMed]; Present study suggests that the rs10981985 G --> A variant within the TDRD7 gene may protect against cortical age-related cataract in a Han Chinese population, [RefSeq, PubMed]; Study describes 2 cases of pediatric cataract with loss-of-function mutations in TDRD7; TDRD7 coimmunoprecipitates with specific lens mRNAs; required for posttranscriptional control of mRNAs critical to normal lens development and RNA granule function, [RefSeq, PubMed]; TDRD7 participates in lens development and spermiogenesis by mediating autophagosome maturation., [RefSeq, PubMed]; The interferon-inducible protein TDRD7 inhibits AMP-activated protein kinase and thereby restricts autophagy-independent virus replication., [RefSeq, PubMed]; The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA processing. Mutations in this gene have been associated with cataract formation in mouse and human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 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": 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": 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": "A6NCI6;B2RBX3;B4DG99;B4DXF7;E7EQD4;Q5VV27;Q96JT1;Q9UFF0;Q9Y2M3", "ec_number_list": "", "go_molecular_function": "GO:0003729 mRNA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0036464 cytoplasmic ribonucleoprotein granule;GO:0033391 chromatoid body;GO:0035770 ribonucleoprotein granule;GO:0043186 P granule", "go_biological_process": "GO:0030719 P granule organization;GO:0007283 spermatogenesis;GO:0010608 post-transcriptional regulation of gene expression;GO:0034587 piRNA processing;GO:0002089 lens morphogenesis in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q8NHU6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P1A6-1", "uniprot_id": "DLGP2_HUMAN", "mass": 117620.0, "length": 1054, "protein_name": "Disks large-associated protein 2", "gene_name": "DLGAP2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "DLGAP2; C8orf68; DAP2; ERICH1-AS1", "gene_names_refseq": "", "protein_names_uniprotkb": "Disks large-associated protein 2; DAP-2; PSD-95/SAP90-binding protein 2; SAP90/PSD-95-associated protein 2; SAPAP2", "protein_names_refseq": "", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); WHIM syndrome 2 (Disease Ontology:DOID:0060973); nephritis (Disease Ontology:DOID:10952); urinary bladder cancer (Disease Ontology:DOID:11054); nephroblastoma (Disease Ontology:DOID:2154); IgA glomerulonephritis (Disease Ontology:DOID:2986); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); demyelinating disease (Disease Ontology:DOID:3213); acute pyelonephritis (Disease Ontology:DOID:559); end stage renal disease (Disease Ontology:DOID:783); periapical periodontitis (Disease Ontology:DOID:823); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:9228); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10.1101/2023.09.13.557529;10854099;11237011;11604393;15540461;16242404;16624946;16846852;17897391;18812509;18829961;20064387;20064388;20519524;21282647;25378172;28657654;31844290;31848261;32157095;32983136;33968037;35051231;37938771;7695896;7736595;8576240;9069287;9286858;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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 12, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A1QCF8;A1QCF9;A5D8Y2;O14488;O14664;Q9P1A7", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0005883 neurofilament;GO:0099572 postsynaptic specialization", "go_biological_process": "GO:0050804 modulation of chemical synaptic transmission;GO:0007270 neuron-neuron synaptic transmission;GO:0023052 signaling", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9P1A6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P28068-1", "uniprot_id": "DMB_HUMAN", "mass": 28931.0, "length": 263, "protein_name": "HLA class II histocompatibility antigen, DM beta chain", "gene_name": "HLA-DMB", "organism": "Human", "refseq_name": "HLA class II histocompatibility antigen, DM beta chain precursor", "refseq_ac": "NP_002109", "gene_names_uniprotkb": "HLA-DMB; DMB; RING7", "gene_names_refseq": "D6S221E; HLA-DMB; RING7", "protein_names_uniprotkb": "HLA class II histocompatibility antigen, DM beta chain; MHC class II antigen DMB; Really interesting new gene 7 protein", "protein_names_refseq": "HLA class II histocompatibility antigen, DM beta chain precursor; HLA class II histocompatibility antigen, DM beta chain; MHC class II HLA-DMB; MHC class II antigen DMB; MHC class II antigen HLA-DM beta chain; class II histocompatibility antigen, M beta chain; really interesting new gene 7 protein", "tax_id": 9606, "disease": "Behcet's disease (Disease Ontology:DOID:13241)", "pathway": " (hsa:3109); (R-HSA-2132295)", "pathway_count": 2, "publication_count": 93, "publication_id_list": "10.1101/2023.09.13.557529;10036229;10064083;10072072;10480952;10540230;10593899;10631941;10631952;10639150;10748235;10809954;10885572;11237011;11529500;11684289;11790530;11813165;11853874;12078484;12198549;12742663;12748383;14731593;15749704;15787724;15911768;16181339;16242130;16335952;16547258;16618111;16824007;17142755;17283181;18046453;18292509;1922365;1956401;19564404;21116285;2121367;21441454;2190094;23260142;2391366;24190977;25008864;25645385;26062997;28832583;29242379;29632711;30315122;30573663;31848261;32162841;33043033;36284347;36870854;37074911;7481823;7592972;7650016;7667286;8034636;8046351;8134367;8145819;8148318;8225438;8313912;8397411;8406617;8415765;8568858;8642258;8687433;8757605;8849454;8909537;8939989;8947036;9075930;9157091;9202021;9311912;9312039;9497313;9539769;9545226;9606180;9768757", "class_list": "", "function": "Data suggest that antigen processing by MHC class II HLA-DMB antigen is a target pathway in the pathogenesis of HIV-related Kaposi's sarcoma., [RefSeq, PubMed]; HLA-DMB alleles and haplotypes in Ecuador (Cuenca) Amerindians: Importance for HLA and disease studies., [RefSeq, PubMed]; HLA-DMB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta (DMB) chain, both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP (class II-associated invariant chain peptide) molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one 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. [provided by RefSeq, Jul 2008]., [RefSeq]; Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This study provides novel insights into how HLA-DM efficiently catalyzes peptide loading during antigen presentation., [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": 10, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 9474, "biomarker_type": "", "glycan_count": 12, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O77936;Q13012;Q29751;Q58ZE2;Q5SNZ8;Q5STC4;Q9XRX2", "ec_number_list": "", "go_molecular_function": "GO:0023026 MHC class II protein complex binding;GO:0042605 peptide antigen binding", "go_cellular_component": "GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane;GO:0042613 MHC class II protein complex", "go_biological_process": "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:0042102 positive regulation of T cell proliferation;GO:0050870 positive regulation of T cell activation", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "P28068-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3B7T1-1", "uniprot_id": "EDRF1_HUMAN", "mass": 138528.0, "length": 1238, "protein_name": "Erythroid differentiation-related factor 1", "gene_name": "EDRF1", "organism": "Human", "refseq_name": "erythroid differentiation-related factor 1 isoform 1", "refseq_ac": "NP_001189367", "gene_names_uniprotkb": "EDRF1; C10orf137", "gene_names_refseq": "C10orf137; EDRF1", "protein_names_uniprotkb": "Erythroid differentiation-related factor 1", "protein_names_refseq": "erythroid differentiation-related factor 1 isoform 1; erythroid differentiation-related factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:26098)", "pathway_count": 1, "publication_count": 89, "publication_id_list": "11237011;12609092;16959974;22544926;22645359;23481700;24714562;24715725;25418920;25502872;25576301;25645385;25892735;26154972;26375851;26728094;26758079;26929215;26992070;27397612;27600516;27846572;27862975;27920218;28218747;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30524438;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33091337;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35154160;35318648;35580925;36010968;36241641;36284347;36581221;37938771", "class_list": "", "function": "EDRF1 regulated alpha- and gamma-globin gene synthesis by modulating DNA-binding activity of GATA-1 transcription factor., [RefSeq, PubMed]; This gene may play a role in erythroid cell differentiation. The encoded protein inhibits DNA binding of the erythroid transcription factor GATA-1 and may regulate the expression of alpha-globin and gamma-globin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]., [RefSeq]; Transcription factor involved in erythroid differentiation. Involved in transcriptional activation of the globin gene., [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RC65;Q3KR40;Q4G190;Q5VZQ4;Q8IZ74;Q9Y3W4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q3B7T1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6VMQ6-1", "uniprot_id": "MCAF1_HUMAN", "mass": 136394.0, "length": 1270, "protein_name": "Activating transcription factor 7-interacting protein 1", "gene_name": "ATF7IP", "organism": "Human", "refseq_name": "activating transcription factor 7-interacting protein 1 isoform 3", "refseq_ac": "NP_001273443", "gene_names_uniprotkb": "ATF7IP; MCAF1; MCAF", "gene_names_refseq": "AM; ATF-IP; ATF7IP1; ATF7IP; MCAF1; MCAF; p621", "protein_names_uniprotkb": "Activating transcription factor 7-interacting protein 1; ATF-IP; ATF-interacting protein; ATF7-interacting protein; ATFa-associated modulator; MBD1-containing chromatin-associated factor 1; P621; hAM", "protein_names_refseq": "ATF-interacting protein; ATF7-interacting protein; ATFa-associated modulator; MBD1-containing chromatin-associated factor 1; activating transcription factor 7-interacting protein 1 isoform 3; activating transcription factor 7-interacting protein 1", "tax_id": 9606, "disease": "intellectual disability (Disease Ontology:DOID:1059)", "pathway": " (hsa:55729); (R-HSA-3214841); (R-HSA-9843940); (R-HSA-9843970)", "pathway_count": 4, "publication_count": 196, "publication_id_list": "10330177;10949293;10976766;11237011;11959841;12123582;12130538;12453418;12540855;12659632;12665582;12670868;12750860;12869583;14536086;14690610;14992727;15145825;15235609;15691849;15882967;15964846;16118227;16199523;16292313;16314315;16519522;16567619;16682010;16757475;16805913;16954381;16964243;17021013;17081983;17500065;17544230;17707229;18082607;18172012;18452278;18669648;18842587;19106100;19413330;19651622;19664994;19664995;19808676;20068231;2028256;20871592;21131967;21196496;21406692;21779408;21832073;22022377;22099308;22658674;22939622;23186163;23301498;23481700;24275569;24397554;24714562;24715725;25274305;25418920;25576301;25645385;25880248;25892735;26022416;26154972;26375851;26728094;26758079;26811146;26813693;26992070;27397612;27600516;27655845;27732843;27846572;27862975;28063628;28218747;28228285;28273063;28314751;28446606;28514659;28581500;28657654;28832583;28834231;28904123;29211708;29237092;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29728366;29769354;29786170;30059200;30315122;30379171;30429286;30524438;30620550;30779550;30833945;31154438;31217245;31222486;31289231;31373491;31427381;31492838;31576654;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32976585;32983136;33009411;33141586;33214551;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34509645;34846842;34932366;35051231;35132862;35138101;35154160;35175239;35254053;35289036;35318648;35513511;35561310;35580925;35705054;36010968;36215666;36241641;36284347;37541260;37938771;38665916;38838015;39302247;39531497;39534244;40136647;40307207;41350704;8769649;9016654", "class_list": "", "function": "ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010]., [RefSeq]; ATF7IP promotes the nuclear localization of SETDB1., [RefSeq, PubMed]; Mutational Alterations of DNA Methylation-related Genes CTCF, ZFP57, and ATF7IP Genes in Colon Cancers., [RefSeq, PubMed]; 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. Required for HUSH-mediated heterochromatin formation and gene silencing (PubMed:27732843). Mediates MBD1-dependent transcriptional repression, probably by recruiting complexes containing SETDB1 (PubMed:12665582). Stabilizes SETDB1, is required to stimulate histone methyltransferase activity of SETDB1 and facilitates the conversion of dimethylated to trimethylated H3 'Lys-9' (H3K9me3). The complex formed with MBD1 and SETDB1 represses transcription and couples DNA methylation and histone H3 'Lys-9' trimethylation (H3K9me3) (PubMed:14536086, PubMed:27732843). Facilitates telomerase TERT and TERC gene expression by SP1 in cancer cells (PubMed:19106100)., [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": 41, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 41, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 41, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 77, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 41, "binding_glycan_count": 0, "secondary_ac_list": "F5GX74;G3V1U0;Q4G0T9;Q6P3T3;Q86XW5;Q9NVJ9;Q9NWC2;Q9Y4X8", "ec_number_list": "", "go_molecular_function": "GO:0003714 transcription corepressor activity;GO:0016887 ATP hydrolysis 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_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0006346 DNA methylation-dependent constitutive heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 24.0, "record_id": "Q6VMQ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86YN1-1", "uniprot_id": "DOPP1_HUMAN", "mass": 27031.0, "length": 238, "protein_name": "Dolichyldiphosphatase 1", "gene_name": "DOLPP1", "organism": "Human", "refseq_name": "dolichyldiphosphatase 1 isoform b", "refseq_ac": "NP_001129389", "gene_names_uniprotkb": "DOLPP1; LSFR2", "gene_names_refseq": "DOLPP1; LSFR2", "protein_names_uniprotkb": "Dolichyldiphosphatase 1; 3.6.1.43; Dolichyl pyrophosphate phosphatase 1", "protein_names_refseq": "dolichyl pyrophosphate phosphatase 1; dolichyldiphosphatase 1 isoform b; linked to Surfeit genes in Fugu rubripes 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57171); (R-HSA-446199)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10369878;11237011;12213788;14652022;17273964;20637498;20700148;21295283;21572394;22240719;23481700;25892735;26992070;28218747;29437277;29493099;29769354;30192525;30410026;30418433;31611695;31844290;32897882;32938616;32983136;33298915;33717175;33912179;33936100;34087483;34171305;34357683;34405274;35051231;36010968;36241641;38821050;6243292;7374371;8626466", "class_list": "", "function": "A similar gene has been characterized in mice and encodes dolichyl pyrophosphate (Dol-P-P) phosphatase. This protein dephosphorylates dolichyl pyrophosphate so that it may be re-utilized as a glycosyl carrier lipid by the oligosaccharyltransferase multisubunit complex in the ER. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]., [RefSeq]; Required for efficient N-glycosylation. Necessary for maintaining optimal levels of dolichol-linked oligosaccharides. Hydrolyzes dolichyl pyrophosphate at a very high rate and dolichyl monophosphate at a much lower rate. Does not act on phosphatidate (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": "A8K3U8;B0QZG4;Q96GF8;Q9Y3G1", "ec_number_list": "3.6.1.43", "go_molecular_function": "GO:0047874 dolichyldiphosphatase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006487 protein N-linked glycosylation;GO:0043048 dolichyl monophosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q86YN1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07992-1", "uniprot_id": "ERCC1_HUMAN", "mass": 32562.0, "length": 297, "protein_name": "DNA excision repair protein ERCC-1", "gene_name": "ERCC1", "organism": "Human", "refseq_name": "DNA excision repair protein ERCC-1 isoform 3", "refseq_ac": "NP_001159521", "gene_names_uniprotkb": "ERCC1", "gene_names_refseq": "COFS4; ERCC1; RAD10; UV20", "protein_names_uniprotkb": "DNA excision repair protein ERCC-1", "protein_names_refseq": "DNA excision repair protein ERCC-1 isoform 3; DNA excision repair protein ERCC-1; excision repair cross-complementation group 1; excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)", "tax_id": 9606, "disease": "XFE progeroid syndrome (Disease Ontology:DOID:0060590); cerebrooculofacioskeletal syndrome 4 (Disease Ontology:DOID:0080914); sensorineural hearing loss (Disease Ontology:DOID:10003); stomach cancer (Disease Ontology:DOID:10534); kidney failure (Disease Ontology:DOID:1074); hypertension (Disease Ontology:DOID:10763); nephrosclerosis (Disease Ontology:DOID:11664); azoospermia (Disease Ontology:DOID:14227); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); ovary epithelial cancer (Disease Ontology:DOID:2152); transient cerebral ischemia (Disease Ontology:DOID:224); anemia (Disease Ontology:DOID:2355); ovarian cancer (Disease Ontology:DOID:2394); high grade glioma (Disease Ontology:DOID:3070); osteosarcoma (Disease Ontology:DOID:3347); carotid artery disease (Disease Ontology:DOID:3407); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung carcinoma (Disease Ontology:DOID:3905); lung non-small cell carcinoma (Disease Ontology:DOID:3908); esophagus adenocarcinoma (Disease Ontology:DOID:4914); myelofibrosis (Disease Ontology:DOID:4971); hepatocellular carcinoma (Disease Ontology:DOID:684); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:2067); (R-HSA-5685938); (R-HSA-5696395); (R-HSA-5696400); (R-HSA-6782135); (R-HSA-6783310)", "pathway_count": 6, "publication_count": 188, "publication_id_list": "10212258;10438626;10526214;10734143;10744977;10921897;11007478;11141066;11237011;11239454;11278856;11511374;11571269;11698410;12080057;12139939;12191481;12226092;12370410;12379650;12750383;14517266;14734547;15220921;15485900;15572677;15590680;16030353;16076955;16246722;16338413;16364765;16491090;16819291;16916645;16943440;17000769;17273966;17289582;17412408;17460694;17466625;17466626;17938197;17948053;17962301;18079701;18082604;18174376;18289367;18539610;18541667;18614043;18757400;18931676;19056823;19111657;19279666;19561358;19589784;19596236;19661379;19713942;19940136;19941824;19995904;20102227;20227374;20347428;20347429;20354815;20368362;20385554;20603015;20603016;20603073;20670894;20671156;20876134;20965415;21282463;21464321;21701511;21764741;21804533;22081108;22249976;22258451;22287633;22396592;22510687;22692201;22994779;23038248;23045548;23098477;23293248;23325218;23352696;23481700;23514287;23623389;23698467;23723247;23751493;24036546;24076221;2420469;24366607;24389026;24402227;24623813;24714562;24726325;24905007;25023406;25154395;25430771;25500724;25538220;25576301;25645385;26042670;26151477;26154972;26728094;26811146;26992070;27397612;27846572;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29557506;29632046;29786170;29789417;30315122;3034490;30429286;31154438;31217245;31530632;31844290;31848261;32034146;32157095;32357974;32387766;32488085;32938616;32983136;33298915;33392160;33592498;33912179;33936100;33968037;34087483;34211107;34357683;34405274;34932366;35051231;35580925;36010968;36284347;36581221;37510370;38479279;39431656;7559382;7700386;8078911;8692841;8702565;9130708;9360634;9699634;9716411;9771713;9837724", "class_list": "", "function": "Association of ERCC1 Gene Polymorphisms (rs3212986 and rs11615) With the Risk of Lung Cancer in a Population From Southeast Iran., [RefSeq, PubMed]; ERCC1 and MGMT Methylation as a Predictive Marker of Relapse and FOLFOX Response in Colorectal Cancer Patients from South Tunisia. Publication Status: Online-Only, [RefSeq, PubMed]; Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Not functional in the nucleotide excision repair pathway., [UniProtKB, PubMed]; Relationship between ERCC1 and XPC polymorphisms and the susceptibility to head and neck carcinoma: A systematic review, meta-analysis, and trial sequential analysis., [RefSeq, PubMed]; The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [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": 6, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 29, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RC01;B3KRR0;Q7Z7F5;Q96S40", "ec_number_list": "", "go_molecular_function": "GO:0003684 damaged DNA binding;GO:0001094 TFIID-class transcription factor complex binding;GO:0003697 single-stranded DNA binding;GO:1990841 promoter-specific chromatin binding", "go_cellular_component": "GO:0000110 nucleotide-excision repair factor 1 complex;GO:0070522 ERCC4-ERCC1 complex;GO:0000109 nucleotide-excision repair complex;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0006312 mitotic recombination;GO:0032205 negative regulation of telomere maintenance;GO:0061819 telomeric DNA-containing double minutes formation;GO:1904431 positive regulation of t-circle formation;GO:1905765 negative regulation of protection from non-homologous end joining at telomere", "synthesized_glycan_count": 0, "hit_score": 18.9, "record_id": "P07992-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P28067-1", "uniprot_id": "DMA_HUMAN", "mass": 29207.0, "length": 261, "protein_name": "HLA class II histocompatibility antigen, DM alpha chain", "gene_name": "HLA-DMA", "organism": "Human", "refseq_name": "HLA class II histocompatibility antigen, DM alpha chain precursor", "refseq_ac": "NP_006111", "gene_names_uniprotkb": "HLA-DMA; DMA; RING6", "gene_names_refseq": "D6S222E; DMA; HLA-DMA; HLADM; RING6", "protein_names_uniprotkb": "HLA class II histocompatibility antigen, DM alpha chain; MHC class II antigen DMA; Really interesting new gene 6 protein", "protein_names_refseq": "HLA class II histocompatibility antigen, DM alpha chain precursor; HLA class II histocompatibility antigen, DM alpha chain; MHC class II antigen DMA; class II histocompatibility antigen, M alpha chain; really interesting new gene 6 protein", "tax_id": 9606, "disease": "Behcet's disease (Disease Ontology:DOID:13241)", "pathway": " (hsa:3108); (R-HSA-2132295)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10036229;10064083;10072072;10480952;10540230;10593899;10631941;10631952;10639150;10748235;10809954;11237011;11529500;11684289;11790530;11813165;11853874;12078484;12198549;12742663;12748383;14731593;15749704;15911768;16181339;16242130;16547258;16618111;16824007;17142755;17283181;18046453;18292509;1922365;1956401;19564404;21116285;2121367;21441454;2190094;22299025;23260142;23783831;2391366;25645385;26610428;26992070;27920218;28218747;28228285;28832583;28834231;29242379;29314611;29382430;29632711;30315122;33025005;35543859;37972401;7481823;7592972;7650016;7667286;8026867;8046351;8134367;8145819;8148318;8225438;8313912;8397411;8415765;8642258;8687433;8849454;8909537;8939989;8947036;9075930;9202021;9311912;9312039;9497313;9539769;9545226;9606180;9768757", "class_list": "", "function": "Expression of NOTCH1, NOTCH4, HLA-DMA and HLA-DRA is synergistically associated with T cell exclusion, immune checkpoint blockade efficacy and recurrence risk in ER-negative breast cancer., [RefSeq, PubMed]; HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM 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 (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq, Jul 2008]., [RefSeq]; PH-susceptibility of HLA-DO tunes DO/DM ratios to regulate HLA-DM catalytic activity. Publication Status: Online-Only, [RefSeq, PubMed]; Permissive HLA-DPB1 mismatches in HCT depend on immunopeptidome divergence and editing by HLA-DM., [RefSeq, PubMed]; Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Prognostic gene HLA-DMA associated with cell cycle and immune infiltrates in LUAD., [RefSeq, PubMed]; The ARL15 and HLA-DMA gene polymorphisms are associated with RA risk in Northwestern Han Chinese population., [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": 6, "reported_glycation": 0, "reported_snv": 7, "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": "Q29639;Q29640", "ec_number_list": "", "go_molecular_function": "GO:0023026 MHC class II protein complex binding;GO:0042605 peptide antigen binding", "go_cellular_component": "GO:0009986 cell surface;GO:0016020 membrane;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane;GO:0042613 MHC class II protein complex", "go_biological_process": "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;GO:0050778 positive regulation of immune response", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "P28067-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P25685-1", "uniprot_id": "DNJB1_HUMAN", "mass": 38044.0, "length": 340, "protein_name": "DnaJ homolog subfamily B member 1", "gene_name": "DNAJB1", "organism": "Human", "refseq_name": "dnaJ homolog subfamily B member 1 isoform 2", "refseq_ac": "NP_001287843", "gene_names_uniprotkb": "DNAJB1; DNAJ1; HDJ1; HSPF1", "gene_names_refseq": "DNAJB1; HSPF1; Hdj1; Hsp40; RSPH16B; Sis1", "protein_names_uniprotkb": "DnaJ homolog subfamily B member 1; DnaJ protein homolog 1; HSP40; Heat shock 40 kDa protein 1; Heat shock protein 40; Human DnaJ protein 1; hDj-1", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily B, member 1; dnaJ homolog subfamily B member 1 isoform 2; dnaJ homolog subfamily B member 1; dnaJ protein homolog 1; heat shock 40 kDa protein 1; human DnaJ protein 1; radial spoke 16 homolog B", "tax_id": 9606, "disease": "congenital myopathy 21 (Disease Ontology:DOID:0081353); autosomal dominant limb-girdle muscular dystrophy type 1 (Disease Ontology:DOID:0110305)", "pathway": " (hsa:3337); (R-HSA-3371453); (R-HSA-3371497); (R-HSA-3371568); (R-HSA-3371571); (R-HSA-5687128)", "pathway_count": 6, "publication_count": 213, "publication_id_list": "10470034;10747884;10954706;10975528;11237011;11447121;11583998;11584266;11589254;11701661;11747420;11751894;11804587;12546821;12781197;12808096;12853476;12915405;12917326;12974469;13486053;14503850;1493716;15159550;15226418;15270074;15364926;15381148;15538386;15577943;15591061;15760475;15802566;1586970;1607379;16278218;1628823;16360641;16371649;16403413;16971392;16973613;17161475;17216044;17254968;17395884;1754405;17591767;17728103;17804755;17947239;18031682;18162290;18215318;18235225;18235501;18235502;18243712;18248330;18254226;18550409;18593949;18635947;18644862;18720373;18991276;19166925;19229036;19359544;19473979;19513348;19593530;19651622;19914676;20006655;20038533;20068231;20072699;20236090;20536836;20543837;20734105;20849292;21158691;21177870;21183720;21317288;21329875;21329882;21372320;21376746;21700222;21796517;22011577;22266222;22267219;22279049;22318716;22433123;22465953;22505454;22508986;22541429;22735644;22768106;22791416;22800433;22940245;23069990;23186163;23301498;23349863;23878308;24012426;24309468;24318877;24585635;24694367;25339975;25576301;26073023;26203193;26313416;26375851;26992070;27397612;27462449;27663436;27846572;27862975;28083797;28301631;28755533;28904123;28919297;29493099;29557506;30197098;30429286;30484775;30559338;31110491;31141847;31217245;31731497;31826031;31844290;32016915;32157095;32320027;32350084;32387766;32448030;32488085;32502341;32544881;32897882;32938616;32982970;32983136;33141586;33214551;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34229054;34509645;34725712;35051231;35167623;35580925;36215666;36241641;36284347;37217939;37938771;38665916;38888469;39258752;6645495;6891012;7559638;7585962;7799959;8107774;8157723;8250930;8282004;8455624;8560673;8721986;8764402;8946918;8975727;9222609;9305631;9464360;9464361;9499401;9535855;9628874;9649501;9667968;9747882;9873016;9920933", "class_list": "", "function": "CircBIRC6 affects prostate cancer progression by regulating miR-574-5p and DNAJB1., [RefSeq, PubMed]; DNAJB1-PRKACA in HEK293T cells induces LINC00473 overexpression that depends on PKA signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Increased Protein Kinase A Activity Induces Fibrolamellar Hepatocellular Carcinoma Features Independent of DNAJB1., [RefSeq, PubMed]; Interacts with HSP70 and can stimulate its ATPase activity. Acts also with TTC1 as a chaperone adapter that regulates HSP70-dependent folding process by interacting with the HSP70 amino terminal region (PubMed:14503850). Stimulates the association between HSC70 and HIP. Negatively regulates heat shock-induced HSF1 transcriptional activity during the attenuation and recovery phase period of the heat shock response (PubMed:9499401). Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro) (PubMed:24318877)., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the DnaJ or Hsp40 (heat shock protein 40 kD) family of proteins. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. The encoded protein is a molecular chaperone that stimulates the ATPase activity of Hsp70 heat-shock proteins in order to promote protein folding and prevent misfolded protein aggregation. Alternative splicing results in multiple transcript variants. [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": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DX52", "ec_number_list": "", "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0051087 protein-folding chaperone binding;GO:0051117 ATPase binding;GO:0003714 transcription corepressor activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0061827 sperm head;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0090084 negative regulation of inclusion body assembly;GO:1903334 positive regulation of protein folding;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0030900 forebrain development;GO:1900034 regulation of cellular response to heat", "synthesized_glycan_count": 0, "hit_score": 21.6, "record_id": "P25685-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P38646-1", "uniprot_id": "HSPA9_HUMAN", "mass": 73680.0, "length": 679, "protein_name": "Stress-70 protein, mitochondrial", "gene_name": "HSPA9", "organism": "Human", "refseq_name": "stress-70 protein, mitochondrial precursor", "refseq_ac": "NP_004125", "gene_names_uniprotkb": "HSPA9; GRP75; HSPA9B; mt-HSP70", "gene_names_refseq": "CRP40; CSA; EVPLS; GRP-75; GRP75; HEL-S-124m; HSPA9B; HSPA9; MOT2; MOT; MTHSP75; PBP74; SAAN; SIDBA4", "protein_names_uniprotkb": "Stress-70 protein, mitochondrial; 3.6.4.10; 75 kDa glucose-regulated protein; GRP-75; Heat shock 70 kDa protein 9; Heat shock protein family A member 9; MOT; Mortalin; PBP74; Peptide-binding protein 74", "protein_names_refseq": "75 kDa glucose-regulated protein; catecholamine-regulated protein 40; epididymis secretory sperm binding protein Li 124m; heat shock 70kD protein 9B; heat shock 70kDa protein 9 (mortalin); heat shock protein family A member 9; mortalin, perinuclear; mortalin-2; mortalin2; p66-mortalin; peptide-binding protein 74; stress-70 protein, mitochondrial precursor; stress-70 protein, mitochondrial", "tax_id": 9606, "disease": "autosomal dominant sideroblastic anemia 4 (Disease Ontology:DOID:0060335); Parkinsonism (Disease Ontology:DOID:0080855); Alzheimer's disease (Disease Ontology:DOID:10652); Parkinson's disease (Disease Ontology:DOID:14330); brain ischemia (Disease Ontology:DOID:2316); rheumatoid arthritis (Disease Ontology:DOID:7148); even-plus syndrome (MONDO:MONDO:0014801)", "pathway": " (hsa:3313); (R-HSA-1268020); (R-HSA-3371453); (R-HSA-6799198); (R-HSA-8949613); (R-HSA-8950505); (R-HSA-9837999); (R-HSA-9841251); (R-HSA-9865881)", "pathway_count": 9, "publication_count": 285, "publication_id_list": "10.1101/2023.09.13.557529;10339406;10954706;11139588;11220739;11237011;11747420;11923310;12198491;12853476;1286669;12917326;12974469;14623864;14654843;14726512;15254020;15364926;15522782;15644312;15683237;15802566;1586970;15870080;16038020;16091382;16115876;16185709;16278218;16408927;16849325;17101804;17121862;17297443;17331979;17377532;17510655;17525332;1754405;17573779;17579211;17624330;17936786;18083107;18174896;18235501;18235502;18323778;18550409;18632665;18678864;19229036;19409522;19453276;19608861;19752196;19767391;19841671;19914676;19962426;20068231;20392697;20406883;20552642;20593814;20668094;20833715;20858599;21123823;21278747;21740066;21750375;21836051;21908771;21924235;22002106;22114354;22121020;22252321;22262461;22424782;22465953;22541429;22710082;22735644;22864911;22940245;22967762;23041349;23168492;23186163;23201127;23301498;23349863;23462535;23481700;23501103;23541579;23553477;23597483;23665396;23719902;23811401;23931759;23940031;24098383;24129315;24191001;24315374;24366607;24385928;24520911;24625977;24687277;24687350;24714562;25008109;25285856;25315652;25502872;25505266;25576301;25605331;25615450;25645385;25678554;25764979;25781180;25892735;25997101;26154972;26375851;26414917;26416881;26477565;26491070;26504172;26530328;26598328;26634371;26697887;26702583;26728094;26811146;26853435;26923599;26968360;26992070;27090790;27426517;27452731;27479602;27485409;27496948;27499296;27623147;27626371;27642048;27920218;28218747;28228285;28377575;28380382;28396416;28467828;28514659;28673544;28832583;28844695;28848044;28855257;28904123;29242379;29243944;29301859;29314611;29317506;29351928;29393594;29508533;29557506;29632046;29632711;29769354;29786170;29932645;30120231;30192525;30315122;30397120;30429286;30444036;30524438;30573663;30933555;31177526;31217245;31327635;31611695;31666358;31695197;31844290;31866046;32119511;32157095;32265295;32302062;32320651;32350084;32357974;32387766;32488085;32502341;32929120;32938616;33043033;33141586;33214551;33257573;33298915;33392160;33592498;33691108;33879611;33882309;33912179;33936100;33968037;33981976;34019948;34078123;34171305;34211107;34357683;34433824;34509645;34561969;34704252;34725712;34932366;34943861;34969438;35051231;35083852;35154160;35251023;35318648;35333655;35561310;35580925;35614220;35870450;36010968;36215666;36241641;36581221;36629048;37217939;37938771;38192280;38199007;38253038;38387030;38604814;38665916;38937602;39003742;39327432;39990658;40596516;41018975;7498169;7585962;7623837;7684501;7829505;8313870;8455624;8721986;8946918;9150948;9305631;9571201;9873016;9920933", "class_list": "", "function": "Estrogen-related receptor alpha promotes thyroid tumor cell survival via a tumor subtype-specific regulation of target gene networks., [RefSeq, PubMed]; GRP75 triggers white adipose tissue browning to promote cancer-associated cachexia. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial chaperone that plays a key role in mitochondrial protein import, folding, and assembly. Plays an essential role in the protein quality control system, the correct folding of proteins, the re-folding of misfolded proteins, and the targeting of proteins for subsequent degradation. These processes are achieved through cycles of ATP binding, ATP hydrolysis, and ADP release, mediated by co-chaperones (PubMed:18632665, PubMed:25615450, PubMed:28848044, PubMed:30933555, PubMed:31177526). In mitochondria, it associates with the TIM (translocase of the inner membrane) protein complex to assist in the import and folding of mitochondrial proteins (By similarity). Plays an important role in mitochondrial iron-sulfur cluster (ISC) biogenesis, interacts with and stabilizes ISC cluster assembly proteins FXN, NFU1, NFS1 and ISCU (PubMed:26702583). Regulates erythropoiesis via stabilization of ISC assembly (PubMed:21123823, PubMed:26702583). Regulates mitochondrial calcium-dependent apoptosis by coupling two calcium channels, ITPR1 and VDAC1, at the mitochondria-associated endoplasmic reticulum (ER) membrane to facilitate calcium transport from the ER lumen to the mitochondria intermembrane space, providing calcium for the downstream calcium channel MCU, which releases it into the mitochondrial matrix (By similarity). Although primarily located in the mitochondria, it is also found in other cellular compartments. In the cytosol, it associates with proteins involved in signaling, apoptosis, or senescence. It may play a role in cell cycle regulation via its interaction with and promotion of degradation of TP53 (PubMed:24625977, PubMed:26634371). May play a role in the control of cell proliferation and cellular aging (By similarity). Protects against reactive oxygen species (ROS) (By similarity). Extracellular HSPA9 plays a cytoprotective role by preventing cell lysis following immune attack by the membrane attack complex by disrupting formation of the complex (PubMed:16091382)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; OMA1 competitively binds to HSPA9 to promote mitophagy and activate the cGAS-STING pathway to mediate GBM immune escape. Erratum:[J Immunother Cancer. 2024 Nov 20;12(11):e008718corr1. doi: 10.1136/jitc-2023-008718corr1. PMID: 39572161] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the heat shock protein 70 gene family. The encoded protein is primarily localized to the mitochondria but is also found in the endoplasmic reticulum, plasma membrane and cytoplasmic vesicles. This protein is a heat-shock cognate protein. This protein plays a role in cell proliferation, stress response and maintenance of the mitochondria. A pseudogene of this gene is found on chromosome 2.[provided by RefSeq, May 2010]., [RefSeq]; Tumor suppressor KEAP1 promotes HSPA9 degradation, controlling mitochondrial biogenesis in breast cancer., [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": 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": 13, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 7, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RCM1;P30036;P31932;Q1HB43;Q53H23;Q6GU03;Q9BWB7;Q9UC56", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;7.1.1.2;3.6.4.6;3.6.1.5;2.3.3.1;2.7.7.7;2.7.7.49;3.4.24.64;3.6.4.10;1.4.1.3;2.1.3.3;1.2.1.3;6.4.1.3;3.1.3.1;3.9.1.1;7.1.2.2;4.2.1.2;1.2.4.1;7.1.1.8;1.8.1.4;5.6.1.7;2.3.1.168;2.3.1.-;4.2.99.18;2.3.1.37;5.6.1.6;5.6.2.3;4.98.1.1;1.1.1.38;2.3.1.9;3.6.4.12;1.2.1.36;1.7.1.-;1.2.1.28;3.4.21.53;5.6.2.5;1.1.1.37;5.3.3.8;1.3.8.1;1.3.8.5;1.1.1.42;3.1.2.2;2.3.2.-;1.1.1.41;3.1.-.-;2.3.3.10;2.8.3.5;3.6.5.-;7.6.2.1;3.5.3.1;1.2.4.2;1.1.1.30;5.3.3.21;2.3.2.27;2.7.11.2;2.7.11.-;1.16.3.1;3.4.21.92;1.1.1.35;2.7.1.23;7.2.2.-;5.6.2.-;1.1.98.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;2.5.1.39;6.2.1.-;6.2.1.4;3.4.24.-;1.1.1.62;1.1.1.239;1.1.1.178;1.1.1.53;1.1.1.159;4.2.1.3;3.1.13.1;5.6.2.6;3.4.-.-;6.1.1.5;2.3.1.41;2.7.4.3", "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0051082 unfolded protein binding;GO:0016887 ATP hydrolysis activity;GO:0031072 heat shock protein binding", "go_cellular_component": "GO:0001401 SAM complex;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:1902037 negative regulation of hematopoietic stem cell differentiation;GO:0006886 intracellular protein transport;GO:0043066 negative regulation of apoptotic process;GO:0030218 erythrocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 29.4, "record_id": "P38646-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00423-1", "uniprot_id": "EMAL1_HUMAN", "mass": 89861.0, "length": 815, "protein_name": "Echinoderm microtubule-associated protein-like 1", "gene_name": "EML1", "organism": "Human", "refseq_name": "echinoderm microtubule-associated protein-like 1 isoform a", "refseq_ac": "NP_001008707", "gene_names_uniprotkb": "EML1; EMAP1; EMAPL1; EMAPL", "gene_names_refseq": "BH; ELP79; EMAP-1; EMAPL; EMAP; EML1", "protein_names_uniprotkb": "Echinoderm microtubule-associated protein-like 1; EMAP-1; HuEMAP-1", "protein_names_refseq": "echinoderm microtubule associated protein like 1; echinoderm microtubule-associated protein-like 1 isoform a", "tax_id": 9606, "disease": "subcortical band heterotopia (Disease Ontology:DOID:0111169); Duchenne muscular dystrophy (Disease Ontology:DOID:11723); epilepsy (Disease Ontology:DOID:1826); congenital nervous system abnormality (Disease Ontology:DOID:2490); skin melanoma (Disease Ontology:DOID:8923)", "pathway": " (hsa:2009)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "10521658;11237011;23481700;24275569;24706829;24859200;25740311;28218747;28556411;28832583;28834231;29242379;29557506;30192525;30379171;30833945;31154438;31710781;31844290;31848261;32157095;32938616;32983136;33912179;34087483;34171305;34211111;35051231;35289477;35318648;36284347;38665916;9226380", "class_list": "", "function": "A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects., [RefSeq, PubMed]; Biallelic EML1 disease-causing variants cause a highly specific pattern of congenital brain malformations, severe developmental delay, seizures and visual impairment Review article, [RefSeq, PubMed]; Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation., [RefSeq, PubMed]; Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Modulates the assembly and organization of the microtubule cytoskeleton, and probably plays a role in regulating the orientation of the mitotic spindle and the orientation of the plane of cell division. Required for normal proliferation of neuronal progenitor cells in the developing brain and for normal brain development. Does not affect neuron migration per se., [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": 8, "reported_glycation": 0, "reported_snv": 5, "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": "Q86U15;Q8N536;Q8N5C4;Q8WWL6", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding;GO:0005509 calcium ion binding;GO:0015631 tubulin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005874 microtubule;GO:0048471 perinuclear region of cytoplasm;GO:0005875 microtubule associated complex;GO:0097431 mitotic spindle pole", "go_biological_process": "GO:0007420 brain development;GO:0000226 microtubule cytoskeleton organization;GO:0007405 neuroblast proliferation;GO:0007052 mitotic spindle organization", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "O00423-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P55010-1", "uniprot_id": "IF5_HUMAN", "mass": 49223.0, "length": 431, "protein_name": "Eukaryotic translation initiation factor 5", "gene_name": "EIF5", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 5", "refseq_ac": "NP_001960", "gene_names_uniprotkb": "EIF5", "gene_names_refseq": "EIF-5A; EIF-5; EIF5", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 5; eIF-5", "protein_names_refseq": "eukaryotic translation initiation factor 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:1983); (R-HSA-72702); (R-HSA-72706)", "pathway_count": 3, "publication_count": 115, "publication_id_list": "10.1101/2023.09.13.557529;10364207;10659855;1095581;11018020;11166181;11230166;11237011;11861906;16227438;16959974;17287340;18212344;18452278;1856230;18649047;18669648;18691976;19413330;19415658;19651622;19690332;20068231;21406692;21745818;22645359;22813744;23186163;23301498;24275569;24319994;24658146;24714562;25576301;25892735;26154972;26728094;26992070;27397612;27920218;28218747;28228285;28510447;28832583;28904123;28981728;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29769354;29786170;30211544;30315122;30379171;30410026;30429286;30524438;30833945;31154438;31217245;31844290;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32897882;32938616;32983136;33214551;33298915;33465208;33592498;33633747;33691108;33717175;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34357683;34403101;34405274;34509645;34725712;35051231;35251023;35318648;35561310;35580925;36010968;36241641;36284347;36581221;38665916;40596516;40914422;429297;592398;592399;641056;7000367;8663286;8943342;9045610;9732867", "class_list": "", "function": "Component of the 43S pre-initiation complex (43S PIC), which binds to the mRNA cap-proximal region, scans mRNA 5'-untranslated region, and locates the initiation codon (PubMed:11166181, PubMed:22813744, PubMed:24319994). In this complex, acts as a GTPase-activating protein, by promoting GTP hydrolysis by eIF2G (EIF2S3) (PubMed:11166181). During scanning, interacts with both EIF1 (via its C-terminal domain (CTD)) and EIF1A (via its NTD) (PubMed:22813744). This interaction with EIF1A contributes to the maintenance of EIF1 within the open 43S PIC (PubMed:24319994). When start codon is recognized, EIF5, via its NTD, induces eIF2G (EIF2S3) to hydrolyze the GTP (PubMed:11166181). Start codon recognition also induces a conformational change of the PIC to a closed state (PubMed:22813744). This change increases the affinity of EIF5-CTD for EIF2-beta (EIF2S2), which allows the release, by an indirect mechanism, of EIF1 from the PIC (PubMed:22813744). Finally, EIF5 stabilizes the PIC in its closed conformation (PubMed:22813744)., [UniProtKB, PubMed, PubMed, PubMed]; Data show that eIF5-mimic protein (5MP) represses non-AUG translation by competing with translation initiation factor 5 (eIF5) for the Met-tRNAi-binding factor eIF2., [RefSeq, PubMed]; Eukaryotic translation initiation factor-5 (EIF5) interacts with the 40S initiation complex to promote hydrolysis of bound GTP with concomitant joining of the 60S ribosomal subunit to the 40S initiation complex. The resulting functional 80S ribosomal initiation complex is then active in peptidyl transfer and chain elongations (summary by Si et al., 1996 [PubMed 8663286]).[supplied by OMIM, May 2010]., [RefSeq]; Roles of HDAC2, eIF5, and eIF6 in Lung Cancer 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": 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": 17, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 11, "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": "Q53XB3;Q9H5N2;Q9UG48", "ec_number_list": "", "go_molecular_function": "GO:0071074 eukaryotic initiation factor eIF2 binding;GO:0003723 RNA binding;GO:0005096 GTPase activator activity;GO:0005525 GTP binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045202 synapse", "go_biological_process": "GO:0006446 regulation of translational initiation;GO:0001732 formation of cytoplasmic translation initiation complex;GO:0042255 ribosome assembly", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "P55010-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99784-1", "uniprot_id": "NOE1_HUMAN", "mass": 55343.0, "length": 485, "protein_name": "Noelin", "gene_name": "OLFM1", "organism": "Human", "refseq_name": "noelin isoform 4 precursor", "refseq_ac": "NP_001269540", "gene_names_uniprotkb": "OLFM1; NOE1; NOEL1", "gene_names_refseq": "AMY; NOE1; NOELIN1; OLFM1; OlfA", "protein_names_uniprotkb": "Noelin; Neuronal olfactomedin-related ER localized protein; Olfactomedin-1", "protein_names_refseq": "neuroblastoma protein; neuronal olfactomedin-related ER localized protein; noelin isoform 4 precursor; noelin; olfactomedin related ER localized protein; pancortin 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10439)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15123989;16335952;21228389;21968811;23090970;26377223;27555280;29391424;29557506;29671580;31154438;31848261;32157095;32161166;37074911;37199315;9039501", "class_list": "", "function": "Contributes to the regulation of axonal growth in the embryonic and adult central nervous system by inhibiting interactions between RTN4R and LINGO1. Inhibits RTN4R-mediated axon growth cone collapse (By similarity). May play an important role in regulating the production of neural crest cells by the neural tube (By similarity). May be required for normal responses to olfactory stimuli (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Human chorionic gonadotropin stimulated miR-212, which down-regulated OLFM1 and CTBP1 expression in fallopian and endometrial epithelial cells to favor spheroid attachment, [RefSeq, PubMed]; Long Non-Coding RNA LPP-AS2 Plays an Anti-Tumor Role in Thyroid Carcinoma by Regulating the miR-132-3p/OLFM1 Axis., [RefSeq, PubMed]; OLFM1 is a negative regulator of non-canonical NF-kappaB signalling by interacting with and inhibiting NIK. Thus, OLFM1 may serve as a valuable biomarker and therapeutic target for colorectal cancer (CRC) patients., [RefSeq, PubMed]; This gene product shares extensive sequence similarity with the rat neuronal olfactomedin-related ER localized protein. While the exact function of the encoded protein is not known, its abundant expression in brain suggests that it may have an essential role in nerve tissue. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Wnt activation suppresses Olfm-1 expression, and this may predispose a favorable microenvironment of the retained embryo in the Fallopian tube, leading to ectopic pregnancy in humans, [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": 6, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 8621, "biomarker_type": "", "glycan_count": 13, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q53XZ8;Q6IMJ4;Q6IMJ5;Q8N8R0;Q969S7;Q99452", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0030424 axon;GO:0043025 neuronal cell body;GO:0043204 perikaryon", "go_biological_process": "GO:0023041 neuronal signal transduction;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q99784-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13438-1", "uniprot_id": "OS9_HUMAN", "mass": 75562.0, "length": 667, "protein_name": "Protein OS-9", "gene_name": "OS9", "organism": "Human", "refseq_name": "protein OS-9 isoform 2 precursor", "refseq_ac": "NP_001017956", "gene_names_uniprotkb": "OS9", "gene_names_refseq": "ERLEC2; OS-9; OS9", "protein_names_uniprotkb": "Protein OS-9; Amplified in osteosarcoma 9", "protein_names_refseq": "amplified in osteosarcoma 9; endoplasmic reticulum lectin 2; erlectin 2; osteosarcoma amplified 9, endoplasmic reticulum associated protein; osteosarcoma amplified 9, endoplasmic reticulum lectin; protein OS-9 isoform 2 precursor; protein OS-9", "tax_id": 9606, "disease": "", "pathway": " (hsa:10956); (R-HSA-382556); (R-HSA-5358346); (R-HSA-5362768); (R-HSA-5678895); (R-HSA-901032); (R-HSA-9931269)", "pathway_count": 7, "publication_count": 241, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10403379;10409699;10484077;10665657;10694380;10748049;10984056;11146634;11237011;11486055;11504826;11562789;11812794;12379217;12379510;12403779;12604685;12913004;1352877;1356264;1359686;1377674;14661924;14702039;15075292;15163793;15175422;15292211;15472518;15489334;15611333;15713668;15863492;15899824;16282375;16335952;16431915;16541075;16611729;16816140;16901789;1695717;17126548;17507410;17523162;17855752;17894550;17932042;17977821;18003979;18264092;18282684;18417469;18426978;18434309;18502753;18534984;18711132;18716059;19002207;19081070;19084021;19346256;19447222;19570978;19603532;1968359;19862647;1998343;20104595;20112406;20546900;20583968;20585641;20621639;21083385;21172656;21257310;2135388;21357747;21652558;21872626;21993680;22047557;2210768;22178883;22318583;2236053;23063411;23090970;23112049;23232094;23481700;23584533;23719536;23867461;24019521;24190977;24275569;24366607;24685677;24714562;24715725;2475911;24784881;24899641;25092655;25133187;25418920;25469497;25576301;25584290;25645385;2570070;2570460;25813380;25880248;25892735;25944712;26154972;26208431;26375851;26728094;26972000;26992070;27543614;27600516;27846572;27862975;27893789;27920218;28063628;28132103;28218747;28228285;28419469;28649982;28827405;28832583;28834231;28904123;2898143;29055231;29237092;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29706535;29741879;29786170;29789417;30118680;30315122;30334692;30334693;30429286;30484775;30779550;30833945;31154438;31217245;31530632;31679946;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32437666;32488085;32502341;32897882;32938616;32981041;32983136;33109704;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34211107;34357683;34405274;3457471;3472246;34932366;35051231;35154160;35251023;35318648;35561310;35580925;35705054;36010968;36241641;36284347;37074911;37340703;37938771;7523390;7529176;7553863;7553864;7865904;7885476;7985023;8090779;8634085;8689684;8824192;8896571;9192850;9498564;9562620;9593755;9652413;9816258;9831708", "class_list": "glycogene", "function": "Lectin component of the HRD1 complex, which functions in endoplasmic reticulum (ER) quality control and ER-associated degradation (ERAD). Specifically recognizes and binds improperly folded glycoproteins as well as hyperglycosylated proteins, retain them in the ER, and transfers them to the ubiquitination machinery and promote their degradation. Possible targets include TRPV4 as well as hyperglycosylated HSP90B1., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Lectin involved in the quality control of the secretory pathway. As a member of the endoplasmic reticulum-associated degradation lumenal (ERAD-L) surveillance system, targets misfolded endoplasmic reticulum lumenal glycoproteins for degradation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Monochorionic twins with selective fetal growth restriction: insight from placental whole-transcriptome analysis., [RefSeq, PubMed]; The relative expression of OS9 and XTP3B and the distribution of glycan and non-glycan degrons within the same protein contribute to the fidelity., [RefSeq, PubMed]; This gene encodes a protein that is highly expressed in osteosarcomas. This protein binds to the hypoxia-inducible factor 1 (HIF-1), a key regulator of the hypoxic response and angiogenesis, and promotes the degradation of one of its subunits. 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 856, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 18, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A6NDD1;A6NFR7;A6NLB2;A8K5Q9;B4DE28;B4DPX1;B4E1I6;E7ENT8;E7EW91;F8VUH2;G3XA88;O00579;Q6IBL2;Q8IZ58;Q9BW99", "ec_number_list": "", "go_molecular_function": "GO:0002020 protease binding;GO:0030246 carbohydrate binding;GO:0140032 glycosylation-dependent protein binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005789 endoplasmic reticulum membrane;GO:0000836 Hrd1p ubiquitin ligase complex", "go_biological_process": "GO:0006605 protein targeting;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0030968 endoplasmic reticulum unfolded protein response;GO:0036503 ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 27.1, "record_id": "Q13438-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5P8-1", "uniprot_id": "P2R3B_HUMAN", "mass": 65061.0, "length": 575, "protein_name": "Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit beta", "gene_name": "PPP2R3B", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit beta", "refseq_ac": "NP_037371", "gene_names_uniprotkb": "PPP2R3B; PPP2R3L", "gene_names_refseq": "NYREN8; PPP2R3B; PPP2R3LY; PPP2R3L; PR48; PR70", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit beta; PP2A subunit B isoform PR48; Protein phosphatase 2A 48 kDa regulatory subunit", "protein_names_refseq": "NY-REN-8 antigen; protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta; protein phosphatase 2, regulatory subunit B'', beta; serine/threonine protein phosphatase 2A, 48kDa regulatory subunit B; serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit beta", "tax_id": 9606, "disease": "idiopathic scoliosis (Disease Ontology:DOID:0060250)", "pathway": " (hsa:28227); (R-HSA-113501); (R-HSA-69231); (R-HSA-69273)", "pathway_count": 4, "publication_count": 153, "publication_id_list": "10207050;10385618;10393926;10395539;10499802;10600115;10629059;10652300;10827953;10831586;11003670;11032757;11063929;11073976;11157749;11231573;11237011;11238451;11313932;11416152;11719808;11884610;11897663;11907280;12411508;12435635;12444543;12605688;12754270;1384126;1423597;14517297;14527418;14597415;14766746;15024056;15456846;15572030;15579463;16195327;16582612;16782892;17092340;1717476;17254966;17254967;17533373;17699597;17908796;17991896;18083107;1828290;1828392;1828393;1828394;18285455;1836978;18384749;18394995;18414028;18691976;18710949;18827403;19075005;19160488;19192479;19458076;19487459;19661920;19896182;20107323;20360007;20663872;20843055;20952511;21423214;21715330;21813648;21900495;23007395;23242214;23622515;23737759;24366607;24515438;24714562;24876129;25007185;25576301;25733683;25892735;26154972;26992070;27600516;27726376;27812135;27846572;27920218;27974665;28063628;28228285;28832583;28834231;29154753;29242379;29393594;29493099;29557506;29769354;30315122;30711375;31530632;31543423;31844290;32157095;32161166;32488085;32502341;32938616;33141586;33298915;33402344;33592498;33771996;33936100;33968037;35051231;35561310;35580925;7737117;7743995;7797074;7799941;7954814;8114739;8119945;8139570;8246996;8336704;8428596;8440392;8497257;9042862;9106657;9144196;9190208;9268380;9325318;9447971;9448290;9508775;9670027;9679058", "class_list": "", "function": "PPP2R3B codes for the PR70 protein, a regulatory substrate-recognizing subunit of protein phosphatase 2A. PR70 decreased melanoma growth by negatively interfering with DNA replication and cell cycle progression through its role in stabilizing CDC6-chromatin licensing and CDT1 interaction, [RefSeq, PubMed]; Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the beta subfamily of regulatory subunit B''. [provided by RefSeq, Apr 2010]., [RefSeq]; Results show the crystal structure of PR48/PR70, at 2.0 A degrees resolution with two domain elongated structure and two Ca2+ binding EF-hands Scattering data. Publication Status: Online-Only, [RefSeq, PubMed]; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localization of the catalytic enzyme to a particular subcellular compartment., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "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": 4, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q6P4G9;Q7RTT1;Q96H01", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0019888 protein phosphatase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000159 protein phosphatase type 2A complex", "go_biological_process": "GO:0006470 protein dephosphorylation;GO:0051726 regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "Q9Y5P8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15370-1", "uniprot_id": "ELOB_HUMAN", "mass": 13133.0, "length": 118, "protein_name": "Elongin-B", "gene_name": "ELOB", "organism": "Human", "refseq_name": "elongin-B isoform a", "refseq_ac": "NP_009039", "gene_names_uniprotkb": "ELOB; TCEB2", "gene_names_refseq": "ELOB; SIII; TCEB2", "protein_names_uniprotkb": "Elongin-B; EloB; Elongin 18 kDa subunit; RNA polymerase II transcription factor SIII subunit B; SIII p18; Transcription elongation factor B polypeptide 2", "protein_names_refseq": "RNA polymerase II transcription factor SIII p18 subunit; RNA polymerase II transcription factor SIII subunit B; SIII p18; elongin 18 kDa subunit; elongin, 18-kD subunit; elongin-B isoform a; epididymis secretory sperm binding protein; transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B); transcription elongation factor B polypeptide 2; transcription elongation factor B subunit 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:6923); (R-HSA-112382); (R-HSA-1234176); (R-HSA-167152); (R-HSA-167200); (R-HSA-167238); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-180585); (R-HSA-674695); (R-HSA-6796648); (R-HSA-75955); (R-HSA-8951664); (R-HSA-9010553); (R-HSA-9705462); (R-HSA-983168); (R-HSA-9833109); (R-HSA-9954709)", "pathway_count": 20, "publication_count": 330, "publication_id_list": "10199401;10205047;10535940;10597293;10757782;10811609;10823831;10866664;10878807;10944113;10973499;10984493;11006129;11024059;11062501;11069780;11237011;11259415;11292861;11292862;11313498;11313499;11350924;11350971;11358837;11454738;11504942;11585840;11598268;11733065;11859374;11884399;11961546;11971958;11988847;12004076;12050673;12101228;12133942;12186903;12351678;12504025;12504026;12526791;12538644;12609982;12615973;12646216;12676794;12682069;12759363;12788921;12816948;12821933;12912907;14512302;14528300;14564014;14690597;14701750;14734113;14757770;15107455;15224091;15224092;15247232;15282312;15361859;15367669;15474027;15489290;15537541;15571818;15572695;15574592;15590694;15601820;15601839;15652483;15652751;15688063;15694336;15781449;15781865;15799966;15987702;16125763;16127453;16171779;16401342;16547496;16595681;16647857;16707496;16738327;16790436;16849449;16943200;16954532;17081101;17132228;17182618;17183367;17189197;17220875;17234882;17251292;17332328;17363902;17392790;17434750;17497243;17785452;17997974;18093314;18184961;18206966;18337469;18562529;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19193793;19208626;19250909;19321346;19352404;1939271;19452197;19453968;19489725;19617556;19706539;19748355;19851334;19874575;19920177;19940261;19952111;20159561;20532212;21119685;21335549;21447816;21463634;21632562;21697472;21778237;21863050;21940857;21980433;22012619;22190037;22286099;22306028;22383950;22466964;22510880;22537386;2261476;22959436;22988298;23102700;23201271;23217742;23301498;23333871;23401859;23453757;23535662;23535663;23538671;23563313;23583660;23685075;23746841;23837592;23912815;23986495;24076655;24225024;24337577;24366543;24402281;2449431;24554720;24636985;24662513;24714562;24715725;24793695;24793696;25132172;25242263;25314029;25349211;25355947;25418920;25429106;25505247;25531226;25561469;25576301;25578875;25712099;26041281;26138980;26154972;26344709;26460955;26632597;26659056;26728094;26906416;26929215;26992070;27030794;27222660;27565346;27600516;27846572;27920218;28063628;28115426;28832583;28834231;28904123;29153394;29242379;29393594;29493099;29508533;29557506;29632046;29632312;29632711;29774024;29775578;29779948;29786170;29789417;30244831;30315122;30558248;30610225;30833945;31011209;31020640;31182716;31217245;31387940;31530632;31844290;31848261;31998317;32005965;32157095;32161166;32284348;32350084;32387766;32488085;32502341;32513959;32897882;32938616;32983136;33123756;33141586;33268465;33298915;33406423;33444648;33592498;33691108;33717175;33909987;33912179;33936100;33968037;34087483;34171305;34211107;34509645;34700328;34857742;34932366;35051231;35154160;35251023;35486881;35512830;35580925;36241641;36284347;36754086;36805027;37640699;37676773;37816714;37844242;38177675;38326650;38418882;38653919;39039081;39548056;40440427;40963025;7638163;7660122;7660129;7660130;7853496;8370526;9063748;9122164;9380723;9450929;9489704;9668046;9790970;9885206;9887101;9891082", "class_list": "", "function": "(Microbial infection) Following infection by HIV-1 virus, component of a cullin-5-RING E3 ubiquitin-protein ligase complex (ECS complex) hijacked by the HIV-1 Vif protein, which catalyzes ubiquitination and degradation of APOBEC3F and APOBEC3G (PubMed:18562529, PubMed:20532212, PubMed:22190037, PubMed:24225024, PubMed:24402281, PubMed:36754086). The complex can also ubiquitinate APOBEC3H to some extent (PubMed:37640699)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Core component of multiple cullin-2 and cullin-5-RING E3 ubiquitin-protein ligase complexes (ECS complexes), which mediate the ubiquitination of target proteins (PubMed:10205047, PubMed:12004076, PubMed:12050673, PubMed:15590694, PubMed:26138980, PubMed:29775578, PubMed:29779948, PubMed:33268465, PubMed:37844242, PubMed:38326650, PubMed:39039081, PubMed:35512830, PubMed:39039081, PubMed:40440427, PubMed:40963025). By binding to BC-box motifs it seems to link target recruitment subunits, like VHL and members of the SOCS box family, to Cullin/RBX1 modules that activate E2 ubiquitination enzymes (PubMed:10205047, PubMed:12004076, PubMed:12050673, PubMed:15590694). Component the von Hippel-Lindau ubiquitination complex CBC(VHL) (PubMed:10205047, PubMed:12004076, PubMed:12050673, PubMed:15590694). A number of ECS complexes (containing either KLHDC2, KLHDC3, KLHDC10, APPBP2, FEM1A, FEM1B or FEM1C as substrate-recognition component) are part of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradation (PubMed:26138980, PubMed:29775578, PubMed:29779948, PubMed:36805027, PubMed:37844242, PubMed:38177675). The ECS(ASB9) complex mediates ubiquitination and degradation of CKB (PubMed:33268465). As part of a multisubunit ubiquitin ligase complex, polyubiquitinates monoubiquitinated POLR2A (PubMed:19920177). ECS(LRR1) ubiquitinates MCM7 and promotes CMG replisome disassembly by VCP and chromatin extraction during S-phase (By similarity). As part of the ECS(RAB40C) complex, mediates ANKRD28 ubiquitination and degradation, thereby inhibiting protein phosphatase 6 (PP6) complex activity and focal adhesion assembly during cell migration (PubMed:35512830). The ECS(ASB7) complex acts a negative regulator of H3K9me3 histone mark by mediating ubiquitination and degradation of SUV39H1 (PubMed:40440427). As part of the ECS(LRRC58) complex, mediates CDO1 ubiquitination and degradation, regulating cysteine catabolism (PubMed:40963025)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Elongin B promotes breast cancer progression by ubiquitinating tumor suppressor p14/ARF. Publication Status: Online-Only, [RefSeq, PubMed]; SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex) (PubMed:7638163). In embryonic stem cells, the elongin BC complex is recruited by EPOP to Polycomb group (PcG) target genes in order generate genomic region that display both active and repressive chromatin properties, an important feature of pluripotent stem cells (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes the protein elongin B, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. Pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, Aug 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": "B7WPD3", "ec_number_list": "", "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0001222 transcription corepressor binding;GO:0003746 translation elongation factor activity", "go_cellular_component": "GO:0030891 VCB complex;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0031462 Cul2-RING ubiquitin ligase complex;GO:0031466 Cul5-RING ubiquitin ligase complex", "go_biological_process": "GO:2000104 negative regulation of DNA-templated DNA replication;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0006367 transcription initiation at RNA polymerase II promoter", "synthesized_glycan_count": 0, "hit_score": 33.3, "record_id": "Q15370-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7L014-1", "uniprot_id": "DDX46_HUMAN", "mass": 117362.0, "length": 1031, "protein_name": "Probable ATP-dependent RNA helicase DDX46", "gene_name": "DDX46", "organism": "Human", "refseq_name": "probable ATP-dependent RNA helicase DDX46 isoform 1", "refseq_ac": "NP_001287789", "gene_names_uniprotkb": "DDX46; KIAA0801", "gene_names_refseq": "DDX46; PRPF5; Prp5", "protein_names_uniprotkb": "Probable ATP-dependent RNA helicase DDX46; 3.6.4.13; DEAD box protein 46; PRP5 homolog", "protein_names_refseq": "DEAD (Asp-Glu-Ala-Asp) box polypeptide 46; DEAD box protein 46; PRP5 homolog; Prp5-like DEAD-box protein; RNA helicase; probable ATP-dependent RNA helicase DDX46 isoform 1; probable ATP-dependent RNA helicase DDX46", "tax_id": 9606, "disease": "", "pathway": " (hsa:9879); (R-HSA-72163); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9943411)", "pathway_count": 5, "publication_count": 218, "publication_id_list": "10199952;10669729;10882114;11014198;11060040;11101529;11233976;11237011;11747608;11991638;12176931;12234937;12411573;12414731;12477934;12682017;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15302935;15565158;15647753;16263726;16314458;16372014;16809785;17081983;17095540;17128255;17332742;17433364;17606899;17717186;18042460;18288197;18322460;18452278;18491316;18593880;18669648;18991276;19103666;19165350;19217410;19413330;19415658;19536130;19608861;19651622;19690332;20068231;20211137;20423332;20695905;20980672;21295486;21406692;21536652;2176635;21911577;22046413;22110043;22365833;22569126;22813749;22922743;22959432;22961380;23186163;23222130;23236153;23301498;23345524;23481700;23874216;24076191;24149845;24196718;24304693;24448447;24714562;24737827;24914973;25218447;25255805;25301780;25301781;25418920;25555158;25576301;2558966;25755297;26092250;26385511;26420826;26728094;26768311;26969736;26992070;27108190;27377154;27459055;27600516;27661449;27683217;27920218;28062851;28076346;28096519;28218747;28228285;28502770;28510447;28781166;28832583;28834231;28904123;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29393594;29508533;29557506;2963332;29786170;29902443;30059200;30139799;30257008;30315122;30315277;30410026;30429286;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31154438;31222486;31409651;31530632;31844290;31848261;31998317;32157095;32161166;32179686;32265295;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32816001;32938616;32983136;33177556;33214551;33243851;33298915;33446560;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34301950;34509645;34561969;34725712;34822310;34846842;34932366;35051231;35138101;35177536;35215846;35251023;35385551;35580925;36010968;36200534;36241641;36284347;36797247;37217939;3757028;38665916;38764294;39302247;40596516;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "Characterization of protein associated with the human 17S U2 snRNP and one of its stable subunits, SF3b; results indicate that Prp5 plays an important role in pre-mRNA splicing, acting during or prior to prespliceosome assembly, [RefSeq, PubMed]; Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs. The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing. Within the 17S U2 SnRNP complex, DDX46 plays essential roles during assembly of pre-spliceosome and proofreading of the branch site., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Mechanisms of the RNA helicases DDX42 and DDX46 in human U2 snRNP assembly. Publication Status: Online-Only, [RefSeq, PubMed]; Oncogenic DDX46 promotes pancreatic cancer development and gemcitabine resistance by facilitating the JMJD6/CDK4 signaling pathway., [RefSeq, PubMed]; Prp5 forms a bridge between U1 and U2 Small Nuclear Ribonucleoproteins at the time of pre-spliceosome formation, [RefSeq, PubMed]; The role of DDX46 in breast cancer proliferation and invasiveness: A potential therapeutic target., [RefSeq, PubMed]; This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]., [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": 16, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "O94894;Q96EI0;Q9Y658", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;2.3.2.27;5.2.1.8;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.1.13.-;2.7.7.48;2.7.7.6;3.6.4.12;3.4.21.53;5.6.2.5;2.7.7.19;3.1.-.-;3.6.5.-;3.1.3.16;3.1.3.53;7.6.2.1;2.7.11.1;7.2.2.-;3.4.19.12;5.6.2.-;2.3.2.-;3.6.1.15;3.1.4.-;3.6.-.-;2.7.1.78;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.7.52;3.1.27.-;2.7.4.3", "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003724 RNA helicase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0015030 Cajal body;GO:0005684 U2-type spliceosomal complex", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome;GO:1903241 U2-type prespliceosome assembly", "synthesized_glycan_count": 0, "hit_score": 22.2, "record_id": "Q7L014-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UPN3-1", "uniprot_id": "MACF1_HUMAN", "mass": 838308.0, "length": 7388, "protein_name": "Microtubule-actin cross-linking factor 1, isoforms 1/2/3/4/5", "gene_name": "MACF1", "organism": "Human", "refseq_name": "microtubule-actin cross-linking factor 1 isoform 1", "refseq_ac": "NP_036222", "gene_names_uniprotkb": "MACF1; ABP620; ACF7; KIAA0465; KIAA0754; KIAA1251", "gene_names_refseq": "ABP620; ACF7; KIAA0754; LIS9; Lnc-PMIF; MACF1; MACF; OFC4", "protein_names_uniprotkb": "Microtubule-actin cross-linking factor 1, isoforms 1/2/3/4/5; 620 kDa actin-binding protein; ABP620; Actin cross-linking family protein 7; Macrophin-1; Trabeculin-alpha", "protein_names_refseq": "620 kDa actin binding protein; actin cross-linking family protein 7; microtubule-actin cross-linking factor 1 isoform 1; postulated migration inhibitory factor; trabeculin-alpha", "tax_id": 9606, "disease": "lissencephaly 9 with complex brainstem malformation (Disease Ontology:DOID:0112228); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:23499)", "pathway_count": 1, "publication_count": 142, "publication_id_list": "10.1101/2023.09.13.557529;10529403;10559237;11237011;11845288;15265687;16076900;16959974;17081983;17697703;18669648;19608861;19690332;20068231;20112406;20937854;21295697;21406692;22544926;22898188;23186163;23481700;24275569;24366607;24714562;24715725;25418920;25502872;25505266;25576301;25645385;25880248;25892735;26154972;26375851;26728094;26768311;26811146;26929215;26992070;27397612;27543614;27600516;27693509;27802168;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28860189;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30410026;30471716;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31373491;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34725712;34932366;35008409;35051231;35251023;35254053;35318648;35494241;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38165568;38253038;38372097;38665916;39256359;39302247;40596516;40914422", "class_list": "", "function": "Exosomal circMACF1 drives PI3K/AKT/mTOR-mediated autophagy suppression in laryngeal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; F-actin-binding protein which plays a role in cross-linking actin to other cytoskeletal proteins and also binds to microtubules (PubMed:15265687, PubMed:20937854). Plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854). Acts as a positive regulator of Wnt receptor signaling pathway and is involved in the translocation of AXIN1 and its associated complex (composed of APC, CTNNB1 and GSK3B) from the cytoplasm to the cell membrane (By similarity). Has actin-regulated ATPase activity and is essential for controlling focal adhesions (FAs) assembly and dynamics (By similarity). Interaction with CAMSAP3 at the minus ends of non-centrosomal microtubules tethers microtubules minus-ends to actin filaments, regulating focal adhesion size and cell migration (PubMed:27693509). May play role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with GOLGA4 (PubMed:15265687). Plays a key role in wound healing and epidermal cell migration (By similarity). Required for efficient upward migration of bulge cells in response to wounding and this function is primarily rooted in its ability to coordinate microtubule dynamics and polarize hair follicle stem cells (By similarity). As a regulator of actin and microtubule arrangement and stabilization, it plays an essential role in neurite outgrowth, branching and spine formation during brain development (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; In two lung cell lines, MACF1b was chiefly localized to the Golgi complex. The domain of MACF1b that targets it to the Golgi was found at the N-terminal part of the region that contains the plakin repeats., [RefSeq, PubMed]; LRRC1 knockdown downregulates MACF1 to inhibit the malignant progression of acute myeloid leukemia by inactivating beta-catenin/c-Myc signaling., [RefSeq, PubMed]; This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 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": 3, "reported_o_glycosites_with_glycan": 20, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 20, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 20, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 47, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 114, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 24, "binding_glycan_count": 0, "secondary_ac_list": "B1ALC5;E9PJT0;O75053;Q5VW20;Q8WXY1;Q8WXY2;Q96PK2;Q9H540;Q9UKP0;Q9ULG9", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003779 actin binding;GO:0051015 actin filament binding;GO:0005198 structural molecule activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005856 cytoskeleton;GO:0005874 microtubule;GO:0005886 plasma membrane", "go_biological_process": "GO:0051893 regulation of focal adhesion assembly;GO:0016055 Wnt signaling pathway;GO:0030334 regulation of cell migration;GO:0032886 regulation of microtubule-based process;GO:0043001 Golgi to plasma membrane protein transport", "synthesized_glycan_count": 0, "hit_score": 17.0, "record_id": "Q9UPN3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P22087-1", "uniprot_id": "FBRL_HUMAN", "mass": 33784.0, "length": 321, "protein_name": "rRNA 2'-O-methyltransferase fibrillarin", "gene_name": "FBL", "organism": "Human", "refseq_name": "rRNA 2'-O-methyltransferase fibrillarin", "refseq_ac": "NP_001427", "gene_names_uniprotkb": "FBL; FIB1; FLRN", "gene_names_refseq": "FBL; FIB; FLRN; Nop1; RNU3IP1", "protein_names_uniprotkb": "rRNA 2'-O-methyltransferase fibrillarin; 2.1.1.-; 34 kDa nucleolar scleroderma antigen; Histone-glutamine methyltransferase; U6 snRNA 2'-O-methyltransferase fibrillarin", "protein_names_refseq": "34 kDa nucleolar scleroderma antigen; 34-kD nucleolar scleroderma antigen; RNA, U3 small nucleolar interacting protein 1; U6 snRNA 2'-O-methyltransferase fibrillarin; histone-glutamine methyltransferase; rRNA 2'-O-methyltransferase fibrillarin", "tax_id": 9606, "disease": "", "pathway": " (hsa:2091); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 189, "publication_id_list": "10606270;10837141;11081632;11237011;11922599;11935223;11978965;12068309;12150911;12417735;14583623;15199136;16037817;16043514;16381836;16738141;16782898;1714385;17189298;17353269;17412707;17498821;17636026;18065403;18438418;18452278;1846968;18669648;18691976;19007248;19033376;19054851;19106111;19208757;19332556;19463982;19564402;19651622;19691289;19801658;20038530;20047967;20056613;20068231;20166139;2026646;20531386;20798176;20805244;20819938;20926688;21036871;21063389;21097556;21406692;22072790;22121020;22190735;22195017;22916032;23186163;23301498;23391857;23439679;23482395;2388630;24086612;2414294;24275569;24352239;24424021;24550520;24715725;25411247;25418920;25525153;25576301;25645385;25653167;25851604;25880248;25892735;25969445;26085946;26154972;26196125;26237581;26375851;26758079;26768311;26811146;26992070;27084949;27452731;27600516;27846572;27862975;27920218;28063628;28228285;28446606;28510447;28760965;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30192525;30315122;30429286;30524438;30540930;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31717259;31844290;31848261;31937595;31998317;32017898;32119511;32157095;32161166;32350084;32357974;32488085;32502341;32522876;32897882;32983136;33123756;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34211107;34229054;34357683;34365507;34433824;34516797;34561969;34725712;34932366;35051231;35083852;35154160;35251023;35318648;35561310;35580925;36010968;36161484;36241641;36284347;36928641;37489617;37938771;38665916;39182558;40596516;40914422;7506728;9211966;9482744;9512526", "class_list": "", "function": "Current research on viral proteins that interact with fibrillarin. Review article, [RefSeq, PubMed]; FBL promotes cancer cell resistance to DNA damage and BRCA1 transcription via YBX1., [RefSeq, PubMed]; Fibrillarin reprograms glucose metabolism by driving the enhancer-mediated transcription of PFKFB4 in liver cancer., [RefSeq, PubMed]; S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and proteins (PubMed:24352239, PubMed:30540930, PubMed:32017898). Involved in pre-rRNA processing by catalyzing the site-specific 2'-hydroxyl methylation of ribose moieties in pre-ribosomal RNA (PubMed:30540930). Site specificity is provided by a guide RNA that base pairs with the substrate (By similarity). Methylation occurs at a characteristic distance from the sequence involved in base pairing with the guide RNA (By similarity). Probably catalyzes 2'-O-methylation of U6 snRNAs in box C/D RNP complexes (PubMed:32017898). U6 snRNA 2'-O-methylation is required for mRNA splicing fidelity (PubMed:32017898). Also acts as a protein methyltransferase by mediating methylation of 'Gln-105' of histone H2A (H2AQ104me), a modification that impairs binding of the FACT complex and is specifically present at 35S ribosomal DNA locus (PubMed:24352239, PubMed:30540930). 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, PubMed, PubMed, UniProtKB]; This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [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": 4, "reported_mutagensis": 6, "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": "B5BUE8;O75259;Q6IAT5;Q9UPI6", "ec_number_list": "2.1.1.-;3.6.4.13;3.1.13.-;3.6.5.-", "go_molecular_function": "GO:0003723 RNA binding;GO:0051117 ATPase binding;GO:0001094 TFIID-class transcription factor complex binding;GO:0008649 rRNA methyltransferase activity;GO:1990259 histone H2AQ104 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0031167 rRNA methylation;GO:0016556 mRNA modification;GO:0001649 osteoblast differentiation;GO:0006364 rRNA processing;GO:0048254 snoRNA localization", "synthesized_glycan_count": 0, "hit_score": 19.2, "record_id": "P22087-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P54764-1", "uniprot_id": "EPHA4_HUMAN", "mass": 109860.0, "length": 986, "protein_name": "Ephrin type-A receptor 4", "gene_name": "EPHA4", "organism": "Human", "refseq_name": "ephrin type-A receptor 4 isoform a precursor", "refseq_ac": "NP_001291465", "gene_names_uniprotkb": "EPHA4; HEK8; SEK; TYRO1", "gene_names_refseq": "EK8; EPHA4; HEK8; SEK; TYRO1", "protein_names_uniprotkb": "Ephrin type-A receptor 4; 2.7.10.1; EK8; EPH-like kinase 8; Tyrosine-protein kinase TYRO1; Tyrosine-protein kinase receptor SEK; hEK8", "protein_names_refseq": "EPH-like kinase 8; TYRO1 protein tyrosine kinase; ephrin type-A receptor 4 isoform a precursor; ephrin type-A receptor 4; receptor protein-tyrosine kinase HEK8; tyrosine-protein kinase TYRO1; tyrosine-protein kinase receptor SEK", "tax_id": 9606, "disease": "lethal congenital glycogen storage disease of heart (Disease Ontology:DOID:0090101); Alzheimer's disease (Disease Ontology:DOID:10652); neurodegenerative disease (Disease Ontology:DOID:1289); toxic encephalopathy (Disease Ontology:DOID:3602); Wolff-Parkinson-White syndrome (Disease Ontology:DOID:384)", "pathway": " (hsa:2043); (R-HSA-2682334); (R-HSA-3928663); (R-HSA-3928665); (R-HSA-9824272)", "pathway_count": 5, "publication_count": 51, "publication_id_list": "10.1101/2023.09.13.557529;10769020;10848605;11179879;11237011;11448999;11780069;12084815;12495863;12973357;15351694;15848799;15848800;16511561;17143272;17322526;17344846;17428795;17928214;18094260;18708347;18713744;19525919;19836338;19875447;20496116;21873938;23090970;24190977;26376612;28178531;28467828;29242379;29557506;30779550;31844290;32157095;32488085;33592498;33968037;34357683;35051231;35762396;36010968;36284347;36804938;37217939;37477786;7898931;8622893;9499402", "class_list": "", "function": "EphA4 regulates white matter remyelination after ischemic stroke through Ephexin-1/RhoA/ROCK signaling pathway., [RefSeq, PubMed]; EphA4 signaling is involved in the phenotype of well-differentiated oral squamous cell arcinoma with decreased tumor immunity., [RefSeq, PubMed]; Receptor tyrosine kinase which binds membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Highly promiscuous, it has the unique property among Eph receptors to bind and to be physiologically activated by both GPI-anchored ephrin-A and transmembrane ephrin-B ligands including EFNA1 and EFNB3. Upon activation by ephrin ligands, modulates cell morphology and integrin-dependent cell adhesion through regulation of the Rac, Rap and Rho GTPases activity. Plays an important role in the development of the nervous system controlling different steps of axonal guidance including the establishment of the corticospinal projections. May also control the segregation of motor and sensory axons during neuromuscular circuit development. In addition to its role in axonal guidance plays a role in synaptic plasticity. Activated by EFNA1 phosphorylates CDK5 at 'Tyr-15' which in turn phosphorylates NGEF regulating RHOA and dendritic spine morphogenesis. In the nervous system, also plays a role in repair after injury preventing axonal regeneration and in angiogenesis playing a role in central nervous system vascular formation. Additionally, its promiscuity makes it available to participate in a variety of cell-cell signaling regulating for instance the development of the thymic epithelium. During development of the cochlear organ of Corti, regulates pillar cell separation by forming a ternary complex with ADAM10 and CADH1 which facilitates the cleavage of CADH1 by ADAM10 and disruption of adherens junctions (By similarity). Phosphorylates CAPRIN1, promoting CAPRIN1-dependent formation of a membraneless compartment (By similarity)., [UniProtKB, UniProtKB, PubMed]; The present data suggest that Eph-A2, but not Eph-A4, overexpression may be associated with the malignant transformation of thyroid neoplasia., [RefSeq, PubMed]; This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]., [RefSeq]; Unraveling the Potential of EphA4: A Breakthrough Target and Beacon of Hope for Neurological Diseases. Review article, [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": 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": 6, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K2P1;B2R601;B7Z6Q8;Q2M380", "ec_number_list": "3.4.24.81;2.7.12.2;2.7.10.1;2.7.10.2;2.7.11.1;2.7.12.1;2.7.1.40;2.7.1.32;2.7.1.82;2.7.10.4;3.6.5.2;2.7.11.13;2.7.11.23", "go_molecular_function": "GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0046875 ephrin receptor binding;GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0005886 plasma membrane;GO:0005912 adherens junction", "go_biological_process": "GO:0050770 regulation of axonogenesis;GO:0097485 neuron projection guidance;GO:0007155 cell adhesion;GO:0007162 negative regulation of cell adhesion;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "P54764-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UGP5-1", "uniprot_id": "DPOLL_HUMAN", "mass": 63482.0, "length": 575, "protein_name": "DNA polymerase lambda", "gene_name": "POLL", "organism": "Human", "refseq_name": "DNA polymerase lambda isoform a", "refseq_ac": "NP_001167555", "gene_names_uniprotkb": "POLL", "gene_names_refseq": "BETAN; POLKAPPA; POLL", "protein_names_uniprotkb": "DNA polymerase lambda; 2.7.7.7; 4.2.99.-; DNA polymerase beta-2; DNA polymerase kappa; Pol Lambda; Pol beta2", "protein_names_refseq": "DNA polymerase beta-2; DNA polymerase beta-N; DNA polymerase kappa; DNA polymerase lambda isoform a; polymerase (DNA directed), lambda; polymerase (DNA) lambda", "tax_id": 9606, "disease": "", "pathway": " (hsa:27343); (R-HSA-5693571)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10572166;10757784;10887191;10982892;11237011;11457865;11493912;11604075;11702069;11955432;12023295;12077346;12186630;12231622;12509254;12809503;12897153;12911298;12947387;14561766;14627824;14992725;15177042;15358682;15451442;15468306;15537631;15574327;15723659;16061182;16093244;16439204;16439205;16600297;16874298;16914548;17290226;17470781;17475573;17525332;18046455;18397950;18688254;19505854;19806195;20693240;22179609;22529269;23306437;23333306;23505375;23727112;24236237;25512557;25818648;25841101;26992070;28109743;28218747;28446606;28649982;28841305;28904123;29242379;29393594;29437277;29485866;29493099;29508533;29632046;29769354;30250067;30429286;31217245;31844290;32157095;32387766;32502341;32897882;32938616;32983136;33392160;33633747;33673424;33912179;33968037;34087483;35051231;35580925;37697436;39894887;8422676;9259561;9430729;9512523;9826654", "class_list": "", "function": "A Role for Human DNA Polymerase lambda in Alternative Lengthening of Telomeres. Publication Status: Online-Only, [RefSeq, PubMed]; DNA polymerase that functions in several pathways of DNA repair (PubMed:11457865, PubMed:19806195, PubMed:20693240, PubMed:30250067). Involved in base excision repair (BER) responsible for repair of lesions that give rise to abasic (AP) sites in DNA (PubMed:11457865, PubMed:19806195). Also contributes to DNA double-strand break repair by non-homologous end joining and homologous recombination (PubMed:19806195, PubMed:20693240, PubMed:30250067). Has both template-dependent and template-independent (terminal transferase) DNA polymerase activities (PubMed:10887191, PubMed:10982892, PubMed:12809503, PubMed:14627824, PubMed:15537631, PubMed:19806195). Also has a 5'-deoxyribose-5-phosphate lyase (dRP lyase) activity (PubMed:11457865, PubMed:19806195)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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, UniProtKB, UniProtKB]; PAXX, XLF and XRCC4 synergise in the efficient DNA double-strand breaks recruitment, substrate recognition and stimulation of Pol lambda enzymatic activity during nonhomologous end joining DNA repair. Publication Status: Online-Only, [RefSeq, PubMed]; Sustained pigmentation causes DNA damage and invokes translesion polymerase Polkappa for repair in melanocytes., [RefSeq, PubMed]; This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]., [RefSeq]; When mutated or deregulated, DNA polymerase lambda can also be a source of genetic instability. Its multiple roles in DNA damage tolerance and its ability in promoting tumor progression make it also a possible target for novel anticancer approaches. [review] Review article, [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": 6, "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": "D3DR76;Q5JQP5;Q6NUM2;Q9BTN8;Q9HA10;Q9HB35", "ec_number_list": "2.7.7.49;3.1.21.-;2.7.7.7;5.6.2.4;2.7.7.31;4.2.99.18;4.2.99.-;3.1.26.4;3.4.23.50;3.1.11.-;6.5.1.1;2.7.11.1;2.7.7.102;3.1.-.-", "go_molecular_function": "GO:0003887 DNA-directed DNA polymerase activity;GO:0051575 5'-deoxyribose-5-phosphate lyase activity;GO:0003677 DNA binding;GO:0046872 metal ion binding;GO:0016829 lyase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035861 site of double-strand break", "go_biological_process": "GO:0071897 DNA biosynthetic process;GO:0006287 base-excision repair, gap-filling;GO:0006260 DNA replication;GO:0006303 double-strand break repair via nonhomologous end joining;GO:0000724 double-strand break repair via homologous recombination", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q9UGP5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P32519-1", "uniprot_id": "ELF1_HUMAN", "mass": 67498.0, "length": 619, "protein_name": "ETS-related transcription factor Elf-1", "gene_name": "ELF1", "organism": "Human", "refseq_name": "ETS-related transcription factor Elf-1 isoform b", "refseq_ac": "NP_001138825", "gene_names_uniprotkb": "ELF1", "gene_names_refseq": "EFTUD1; ELF1; RIA1", "protein_names_uniprotkb": "ETS-related transcription factor Elf-1; E74-like factor 1", "protein_names_refseq": "E74-like factor 1 (ets domain transcription factor); ETS-related transcription factor Elf-1 isoform b; ets-related transcription factor Elf-1", "tax_id": 9606, "disease": "congenital disorder of glycosylation It (Disease Ontology:DOID:0080570); endometrial cancer (Disease Ontology:DOID:1380); teratoma (Disease Ontology:DOID:3307)", "pathway": " (hsa:1997); (R-HSA-8939245); (R-HSA-8939247)", "pathway_count": 3, "publication_count": 122, "publication_id_list": "10.1101/2023.09.13.557529;10207087;10455134;11237011;14970218;1527846;15302935;1545787;16964243;17525332;18669648;19413330;19651622;19664995;19690332;20058876;21300897;21867680;23186163;23481700;24275569;24714562;24715725;25505266;25576301;25645385;26060100;26154972;26375851;26728094;26992070;27600516;27655845;27846572;27920218;28218747;28228285;28446606;28514659;28832583;28834231;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30059200;30315122;30429286;30524438;30779550;30833945;31092671;31154438;31217245;31492838;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33691108;33717175;33720698;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34509645;34561969;34932366;35051231;35132862;35138101;35154160;35254053;35289036;35318648;35513511;35561310;35580925;35705054;36010968;36241641;36284347;36763086;36846943;37340703;37641376;37938771;38665916;39302247;39531497;39534244;40307207;40596516;40914422;8493578;8756667;9524226", "class_list": "", "function": "ELF1 Transcription Factor Enhances the Progression of Glioma via ATF5 promoter., [RefSeq, PubMed]; ELF1 suppresses autophagy to reduce cisplatin resistance via the miR-152-3p/NCAM1/ERK axis in lung cancer cells., [RefSeq, PubMed]; ELF1/PRR11/ARP2/3 promoted trophoblast cells proliferation and motility in early pregnancy., [RefSeq, PubMed]; This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]., [RefSeq]; Transcription Factor ELF1 Modulates Cisplatin Sensitivity in Prostate Cancer by Targeting MEIS Homeobox 2., [RefSeq, PubMed]; Transcription factor that activates the LYN and BLK promoters. Appears to be required for the T-cell-receptor-mediated trans activation of HIV-2 gene expression. Binds specifically to two purine-rich motifs in the HIV-2 enhancer., [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": 1, "reported_o_glycosites_with_glycan": 22, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 22, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 22, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 24, "binding_glycan_count": 0, "secondary_ac_list": "B4E2I5;E9PDQ9;Q8N6F6;Q9UDE1", "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:0000785 chromatin", "go_biological_process": "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;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "P32519-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01135-1", "uniprot_id": "TGFA_HUMAN", "mass": 17006.0, "length": 160, "protein_name": "Protransforming growth factor alpha", "gene_name": "TGFA", "organism": "Human", "refseq_name": "protransforming growth factor alpha isoform 2 preproprotein", "refseq_ac": "NP_001093161", "gene_names_uniprotkb": "TGFA", "gene_names_refseq": "TFGA; TGFA", "protein_names_uniprotkb": "Protransforming growth factor alpha; EGF-like TGF; ETGF; TGF type 1", "protein_names_refseq": "TGF-alpha; protransforming growth factor alpha isoform 2 preproprotein; protransforming growth factor alpha", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); pancreatic cancer (Disease Ontology:DOID:1793); gastroenteritis (Disease Ontology:DOID:2326); acute kidney failure (Disease Ontology:DOID:3021); insulinoma (Disease Ontology:DOID:3892); gallbladder carcinoma (Disease Ontology:DOID:4948); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:7039); (R-HSA-1257604); (R-HSA-177929); (R-HSA-179812); (R-HSA-180292); (R-HSA-180336); (R-HSA-182971); (R-HSA-204005); (R-HSA-212718); (R-HSA-2219530); (R-HSA-5638303); (R-HSA-5673001); (R-HSA-5694530); (R-HSA-6811558); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8866910); (R-HSA-9009391); (R-HSA-9018519); (R-HSA-9634638); (R-HSA-9927418); (R-HSA-9927432)", "pathway_count": 22, "publication_count": 716, "publication_id_list": 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"class_list": "", "function": "Autocrine TGF-alpha is associated with Benzo(a)pyrene-induced mucus production and MUC5AC expression during allergic asthma., [RefSeq, PubMed]; EGF, TGF-alpha and Amphiregulin Differently Regulate Endometrium-Derived Mesenchymal Stromal/Stem Cells. Publication Status: Online-Only, [RefSeq, PubMed]; TGF alpha is a mitogenic polypeptide that is able to bind to the EGF receptor/EGFR and to act synergistically with TGF beta to promote anchorage-independent cell proliferation in soft agar., [UniProtKB]; TGFA expression is associated with poor prognosis and promotes the development of cervical cancer., [RefSeq, PubMed]; This gene encodes a growth factor that is a ligand for the epidermal growth factor receptor, which activates a signaling pathway for cell proliferation, differentiation and development. This protein may act as either a transmembrane-bound ligand or a soluble ligand. This gene has been associated with many types of cancers, and it may also be involved in some cases of cleft lip/palate. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 7, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K286;Q15577;Q53SK7;Q9BS56;Q9UEI3;Q9UKM1;Q9UKM2;Q9UKM3", "ec_number_list": "", "go_molecular_function": "GO:0005154 epidermal growth factor receptor binding;GO:0008083 growth factor activity;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0072574 hepatocyte proliferation;GO:0007166 cell surface receptor signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0035556 intracellular signal transduction;GO:0043410 positive regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 71.7, "record_id": "P01135-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y222-1", "uniprot_id": "DMTF1_HUMAN", "mass": 84471.0, "length": 760, "protein_name": "Cyclin-D-binding Myb-like transcription factor 1", "gene_name": "DMTF1", "organism": "Human", "refseq_name": "cyclin-D-binding Myb-like transcription factor 1 isoform b", "refseq_ac": "NP_001135798", "gene_names_uniprotkb": "DMTF1; DMP1", "gene_names_refseq": "DMP1; DMTF1; DMTF; MRUL; hDMP1", "protein_names_uniprotkb": "Cyclin-D-binding Myb-like transcription factor 1; Cyclin-D-interacting Myb-like protein 1; hDMP1; hDMTF1", "protein_names_refseq": "cyclin D-binding Myb-like protein; cyclin-D-binding Myb-like transcription factor 1 isoform b; cyclin-D-interacting Myb-like protein 1; hDMTF1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9988)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "10095122;11237011;12917399;15010895;17936562;22424782;22544926;22645359;23481700;24366607;25576301;26154972;26768311;26992070;27846572;28228285;28832583;29242379;29393594;29786170;30315122;30429286;30592263;30599775;30779550;31530632;31844290;31937595;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;33120969;33141586;33298915;33367929;33592498;33717175;33936100;33968037;33981976;34087483;34171305;34405274;34509645;35051231;36010968", "class_list": "", "function": "DMTF1 is hemizygously deleted in 35-42% of human cancers and is associated with longer survival. [review] Review article, [RefSeq, PubMed]; HDMP1beta antagonizes hDMP1alpha activity and cellular functions of hDMP1 may be regulated by cellular hDMP1 isoform levels, [RefSeq, PubMed]; Loss of heterozygosity (LOH) of the hDMP1 gene was detectable in approximately 35% of human lung carcinomas, which was found in mutually exclusive fashion with LOH of INK4a/ARF or that of P53. DMP1 is a pivotal tumor suppressor for human lung cancers., [RefSeq, PubMed]; Mechanisms regulating DMTF1beta/gamma expression and their functional interplay with DMTF1alpha., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Survival of Lung Cancer Patients Dependent on the LOH Status for DMP1, ARF, and p53. Publication Status: Online-Only, [RefSeq, PubMed]; The results of the study demonstrated that miR6753p directly regulated the expression of DMTF1, which contributed to the further regulation of Colorectal cancer cell proliferation., [RefSeq, PubMed]; This gene encodes a transcription factor that contains a cyclin D-binding domain, three central Myb-like repeats, and two flanking acidic transactivation domains at the N- and C-termini. The encoded protein is induced by the oncogenic Ras signaling pathway and functions as a tumor suppressor by activating the transcription of ARF and thus the ARF-p53 pathway to arrest cell growth or induce apoptosis. It also activates the transcription of aminopeptidase N and may play a role in hematopoietic cell differentiation. The transcriptional activity of this protein is regulated by binding of D-cyclins. This gene is hemizygously deleted in approximately 40% of human non-small-cell lung cancer and is a potential prognostic and gene-therapy target for non-small-cell lung cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]., [RefSeq]; Transcriptional activator which activates the CDKN2A/ARF locus in response to Ras-Raf signaling, thereby promoting p53/TP53-dependent growth arrest (By similarity). Binds to the consensus sequence 5'-CCCG[GT]ATGT-3' (By similarity). Isoform 1 may cooperate with MYB to activate transcription of the ANPEP gene. Isoform 2 may antagonize transcriptional activation by isoform 1., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B2RBE1;B4DJS5;Q05C48;Q59G79;Q6IS13;Q969T2;Q9H2Z2;Q9H2Z3", "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:0003677 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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9Y222-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99607-1", "uniprot_id": "ELF4_HUMAN", "mass": 70730.0, "length": 663, "protein_name": "ETS-related transcription factor Elf-4", "gene_name": "ELF4", "organism": "Human", "refseq_name": "ETS-related transcription factor Elf-4", "refseq_ac": "NP_001120669", "gene_names_uniprotkb": "ELF4; ELFR; MEF", "gene_names_refseq": "AIFBL2; ELF4; ELFR; MEF", "protein_names_uniprotkb": "ETS-related transcription factor Elf-4; E74-like factor 4; Myeloid Elf-1-like factor", "protein_names_refseq": "E74-like factor 4 (ets domain transcription factor); ETS-related transcription factor Elf-4; myeloid Elf-1-like factor", "tax_id": 9606, "disease": "autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MONDO:MONDO:0024770)", "pathway": " (hsa:2000)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "10207087;11237011;12151102;14625302;14976184;16303180;16581786;17322306;18452278;18669648;19380490;19413330;19651622;19690332;20068231;21465527;22645359;23186163;23481700;24715725;25576301;26154972;27846572;27862975;27920218;28218747;28514659;28832583;28904123;29242379;29437277;29493099;29508533;29557506;29632711;30315122;30379171;30410026;30429286;31092671;31154438;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33912179;33936100;33968037;34171305;34211107;34326534;34509645;34932366;35051231;35266071;35561310;35580925;36284347;36823308;36923538;37674363;38301392;38773005;39531497;8895518;9524226", "class_list": "", "function": "A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China., [RefSeq, PubMed]; A Novel Frameshift Variant of the ELF4 Gene in a Patient with Autoinflammatory Disease: Clinical Features, Transcriptomic Profiling and Functional Studies. Publication Status: Online-Only, [RefSeq, PubMed]; ELF4 contributes to esophageal squamous cell carcinoma growth and metastasis by augmenting cancer stemness via FUT9., [RefSeq, PubMed]; FGF19-mediated ELF4 overexpression promotes colorectal cancer metastasis through transactivating FGFR4 and SRC. Publication Status: Online-Only, [RefSeq, PubMed]; Functional dissection of the transactivation mechanisms of the ETS transcription factor MEF, [RefSeq, PubMed]; MEF is an important regulator of IL-8 expression Erratum:[J Biol Chem. 2006 Mar 31;281(13):8996], [RefSeq, PubMed]; Reciprocal regulation of lncRNA MEF and c-Myc drives colorectal cancer tumorigenesis., [RefSeq, PubMed]; The protein encoded by this gene is a transcriptional activator that binds and activates the promoters of the CSF2, IL3, IL8, and PRF1 genes. The encoded protein is involved in natural killer cell development and function, innate immunity, and induction of cell cycle arrest in naive CD8+ cells. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010]., [RefSeq]; Transcriptional activator that binds to DNA sequences containing the consensus 5'-WGGA-3'. Transactivates promoters of the hematopoietic growth factor genes CSF2, IL3, IL8, and of the bovine lysozyme gene. Acts synergistically with RUNX1 to transactivate the IL3 promoter (By similarity). Transactivates the PRF1 promoter in natural killer (NK) cells and CD8+ T cells (PubMed:34326534). Plays a role in the development and function of NK and NK T-cells and in innate immunity. Controls the proliferation and homing of CD8+ T-cells via the Kruppel-like factors KLF4 and KLF2 (By similarity). Controls cell senescence in a p53-dependent manner. Can also promote cellular transformation through inhibition of the p16 pathway. Is a transcriptional regulator of inflammation, controlling T-helper 17 (Th17) cells and macrophage inflammatory responses. Required for sustained transcription of anti-inflammatory genes, including IL1RN (PubMed:34326534, PubMed:35266071). Is a negative regulator of pro-inflammatory cytokines expression including IL17A, IL1B, IL6, TNFA and CXCL1 (PubMed:34326534, PubMed:35266071). Down-regulates expression of TREM1, a cell surface receptor involved in the amplification of inflammatory responses (By similarity) (PubMed:34326534, PubMed:35266071)., [UniProtKB, PubMed, 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": 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": 11, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 17, "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": "D3DTG1;O60435", "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:0016604 nuclear body;GO:0016605 PML 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:0045944 positive regulation of transcription by RNA polymerase II;GO:0032691 negative regulation of interleukin-1 beta production", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q99607-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P55084-1", "uniprot_id": "ECHB_HUMAN", "mass": 51294.0, "length": 474, "protein_name": "Trifunctional enzyme subunit beta, mitochondrial", "gene_name": "HADHB", "organism": "Human", "refseq_name": "trifunctional enzyme subunit beta, mitochondrial isoform 2 precursor", "refseq_ac": "NP_001268441", "gene_names_uniprotkb": "HADHB; MSTP029", "gene_names_refseq": "ECHB; HADHB; MSTP029; MTPB; MTPD2; MTPD; TP-BETA", "protein_names_uniprotkb": "Trifunctional enzyme subunit beta, mitochondrial; 3-oxoacyl-CoA thiolase; Acetyl-CoA acyltransferase; Beta-ketothiolase; LCKAT; Long chain 3-ketoacyl-CoA thiolase; TP-beta", "protein_names_refseq": "2-enoyl-Coenzyme A (CoA) hydratase, beta subunit; 3-ketoacyl-Coenzyme A (CoA) thiolase of mitochondrial trifunctional protein, beta subunit; acetyl-CoA acyltransferase; beta-ketothiolase; hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit; hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit; trifunctional enzyme subunit beta, mitochondrial isoform 2 precursor; trifunctional enzyme subunit beta, mitochondrial", "tax_id": 9606, "disease": "mitochondrial trifunctional protein deficiency 2 (Disease Ontology:DOID:0060999); mitochondrial trifunctional protein deficiency (Disease Ontology:DOID:0111277); Alzheimer's disease (Disease Ontology:DOID:10652); lipid metabolism disorder (Disease Ontology:DOID:3146); mitochondrial metabolism disease (Disease Ontology:DOID:700); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:3032); (R-HSA-1482798); (R-HSA-77285); (R-HSA-77288); (R-HSA-77305); (R-HSA-77310); (R-HSA-77346); (R-HSA-77348); (R-HSA-77350)", "pathway_count": 9, "publication_count": 100, "publication_id_list": "10092647;10336645;11237011;12654921;12665801;12754706;13295225;13295248;14551214;14978097;15152008;15242332;1540149;1550553;16423905;16959974;17082194;17975675;18479707;19075029;19416660;19608861;19737925;20068231;21527675;22967762;23271734;23481700;24714562;24715725;25418920;25645385;26375851;26474213;26728094;26853435;27452731;27846572;28218747;28228285;28514659;28649982;28832583;28904123;29242379;29493099;29557506;29632046;29632711;29786170;29789417;29915090;30315122;30429286;30833945;30850536;31092671;31154438;31844290;32157095;32161166;32243843;32265295;32350084;32357974;32387766;32488085;32938616;33141586;33298915;33392160;33691108;33912179;33968037;33981976;34171305;34229054;34357683;34531036;34725712;34932366;35051231;35251023;35580925;3597357;36010968;36241641;37938771;38372965;38665916;40914422;7958339;8083230;8135828;8163672;8651282;8687463;9259266;9417066;9487141", "class_list": "", "function": "HADHB, a fatty acid beta-oxidation enzyme, is a potential prognostic predictor in malignant lymphoma., [RefSeq, PubMed]; Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway. The mitochondrial beta-oxidation pathway is the major energy-producing process in tissues and is performed through four consecutive reactions breaking down fatty acids into acetyl-CoA. Among the enzymes involved in this pathway, the trifunctional enzyme exhibits specificity for long-chain fatty acids. Mitochondrial trifunctional enzyme is a heterotetrameric complex composed of two proteins, the trifunctional enzyme subunit alpha/HADHA carries the 2,3-enoyl-CoA hydratase and the 3-hydroxyacyl-CoA dehydrogenase activities, while the trifunctional enzyme subunit beta/HADHB described here bears the 3-ketoacyl-CoA thiolase activity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RB16;B4E2W0;O14969;Q53TA6;Q96C77;Q9H3F5;Q9T2V8", "ec_number_list": "2.3.1.16;2.3.1.9;2.3.1.155;2.3.1.176;3.1.2.-;3.1.2.2;3.1.2.1", "go_molecular_function": "GO:0003723 RNA binding;GO:0044877 protein-containing complex binding;GO:0004300 enoyl-CoA hydratase activity;GO:0003988 acetyl-CoA C-acyltransferase activity;GO:0003985 acetyl-CoA C-acetyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005740 mitochondrial envelope;GO:0005741 mitochondrial outer membrane;GO:0005743 mitochondrial inner membrane;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0006635 fatty acid beta-oxidation;GO:0071222 cellular response to lipopolysaccharide;GO:0010467 gene expression;GO:0006631 fatty acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "P55084-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H0S4-1", "uniprot_id": "DDX47_HUMAN", "mass": 50647.0, "length": 455, "protein_name": "Probable ATP-dependent RNA helicase DDX47", "gene_name": "DDX47", "organism": "Human", "refseq_name": "probable ATP-dependent RNA helicase DDX47 isoform 1", "refseq_ac": "NP_057439", "gene_names_uniprotkb": "DDX47", "gene_names_refseq": "DDX47; E4-DBP; HQ0256; MSTP162; RRP3", "protein_names_uniprotkb": "Probable ATP-dependent RNA helicase DDX47; 3.6.4.13; DEAD box protein 47", "protein_names_refseq": "DEAD (Asp-Glu-Ala-Asp) box polypeptide 47; DEAD box polypeptide 47; DEAD box protein 47; E4-DEAD box protein; probable ATP-dependent RNA helicase DDX47 isoform 1; probable ATP-dependent RNA helicase DDX47", "tax_id": 9606, "disease": "", "pathway": " (hsa:51202); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 160, "publication_id_list": "10606270;11081632;11230166;11237011;11922599;11935223;11978965;12068309;12150911;12417735;12429849;15199136;15977068;16037817;16043514;16381836;16738141;16782898;16963496;17081983;17189298;17353269;17412707;17636026;17932509;18065403;18438418;18669648;18991276;19007248;19033376;19106111;19332556;19413330;19463982;19562805;19564402;19651622;19691289;19801658;20038530;20047967;20056613;20068231;20531386;20798176;20805244;20819938;20941364;21036871;21063389;21097556;21406692;22072790;22190735;22195017;22916032;23186163;23391857;23439679;23481700;23482395;2388630;24086612;24424021;24550520;25411247;25418920;25505266;25525153;25576301;25645385;25653167;25802875;25851604;25892735;25969445;26085946;26154972;26196125;26237581;26375851;26811146;26992070;27084949;27397612;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29769354;29786170;29789417;30315122;30429286;30484775;30779550;31154438;31217245;31256877;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33717175;33936100;33968037;34171305;34185709;34509645;34725712;34932366;35051231;35251023;35318648;35580925;36010968;36215666;36241641;36284347;36827184;37217939;37553903;37938771;38665916;9211966;9482744;9512526", "class_list": "", "function": "BIOINFORMATICS APPLICATIONS UNDER CONDITION CONTROL: HIGH DIAGNOSTIC VALUE OF DDX47 IN REAL MEDICAL SETTINGS., [RefSeq, PubMed]; DDX47, MeCP2, and other functionally heterogeneous factors protect cells from harmful R loops., [RefSeq, PubMed]; Required for efficient ribosome biogenesis (By similarity). May have a role in mRNA splicing (PubMed:16963496). Involved in apoptosis (PubMed:15977068)., [UniProtKB, PubMed, PubMed, UniProtKB]; This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene can shuttle between the nucleus and the cytoplasm, and has an RNA-independent ATPase activity. Two alternatively spliced transcript variants encoding distinct 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": 6, "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": "B3KXP4;G5E955;Q96GM0;Q96NV8;Q9UI98", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;2.1.1.-;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;7.6.2.1;3.1.13.-;2.3.2.27;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003724 RNA helicase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016020 membrane", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0006364 rRNA processing;GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "Q9H0S4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P54852-1", "uniprot_id": "EMP3_HUMAN", "mass": 18429.0, "length": 163, "protein_name": "Epithelial membrane protein 3", "gene_name": "EMP3", "organism": "Human", "refseq_name": "epithelial membrane protein 3", "refseq_ac": "NP_001300834", "gene_names_uniprotkb": "EMP3; YMP", "gene_names_refseq": "EMP3; YMP", "protein_names_uniprotkb": "Epithelial membrane protein 3; EMP-3; HNMP-1; Hematopoietic neural membrane protein 1; Protein YMP", "protein_names_refseq": "EMP-3; HNMP-1; epithelial membrane protein 3; hematopoietic neural membrane protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:2014)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "10.1101/2023.09.13.557529;11237011;24190977;25892735;28467828;29314611;29493099;29557506;30573663;31154438;31611695;31844290;32350084;32387766;33043033;33592498;33912179;33936100;33968037;34357683;34617578;34856762;35154160;35251023;35580925;36215666;36789459;37074911;37936247;38229014;8917086;8996089;9204931", "class_list": "", "function": "EMP3 as a prognostic biomarker correlates with EMT in GBM. Publication Status: Online-Only, [RefSeq, PubMed]; EMP3 sustains oncogenic EGFR/CDK2 signaling by restricting receptor degradation in glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of epithelial membrane protein (EMP) 1, EMP 2, and EMP 3 in thyroid cancer., [RefSeq, PubMed]; Identification of candidate biomarker EMP3 and its prognostic potential in clear cell renal cell carcinoma., [RefSeq, PubMed]; Probably involved in cell proliferation and cell-cell interactions., [UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene belongs to the PMP-22/EMP/MP20 family of proteins. The protein contains four transmembrane domains and two N-linked glycosylation sites. It is thought to be involved in cell proliferation, cell-cell interactions and function as a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]., [RefSeq]; Yes, MAM: how the cancer-related EMP3 protein became a regulator of erythropoiesis and the key protein underlying a new blood group system. 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": 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": 4, "reported_interactions": 0, "missing_score": 9536, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q6FH01", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006915 apoptotic process;GO:0032060 bleb assembly", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "P54852-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P43003-1", "uniprot_id": "EAA1_HUMAN", "mass": 59572.0, "length": 542, "protein_name": "Excitatory amino acid transporter 1", "gene_name": "SLC1A3", "organism": "Human", "refseq_name": "excitatory amino acid transporter 1 isoform 5", "refseq_ac": "NP_001276869", "gene_names_uniprotkb": "SLC1A3; EAAT1; GLAST1; GLAST", "gene_names_refseq": "EA6; EAAT1; GLAST1; GLAST; SLC1A3", "protein_names_uniprotkb": "Excitatory amino acid transporter 1; GLAST-1; Sodium-dependent glutamate/aspartate transporter 1; Solute carrier family 1 member 3", "protein_names_refseq": "GLAST-1; excitatory amino acid transporter 1 isoform 5; excitatory amino acid transporter 1; sodium-dependent glutamate/aspartate transporter 1; solute carrier family 1 (glial high affinity glutamate transporter), member 3", "tax_id": 9606, "disease": "episodic ataxia type 6 (Disease Ontology:DOID:0050994); neurodegenerative disease (Disease Ontology:DOID:1289); low tension glaucoma (Disease Ontology:DOID:13544); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:6507); (R-HSA-210455); (R-HSA-210500); (R-HSA-5619062); (R-HSA-9958863)", "pathway_count": 5, "publication_count": 70, "publication_id_list": "10.1101/2023.09.13.557529;10440375;10620514;11001057;11015561;11237011;11242046;11756489;12519779;12911626;14730707;15935055;16042756;16116111;16516348;16616430;17478680;17891149;17989281;18215623;18669648;19139306;20068231;20477940;23186163;24578174;26690923;28032905;28218747;28424515;28832583;29331515;29393594;29437277;29557506;29789417;30429286;30484775;30568303;30779550;31154438;31844290;31848261;3214421;32161166;32983136;33141586;33392160;33592498;33968037;34357683;34433824;34932366;35051231;35192345;35580925;36215666;36241641;36284347;36655314;37074911;38927733;7521911;7791878;7859077;8123008;8218410;8647279;9108121;9701566", "class_list": "", "function": "Diminished motor neuron activity driven by abnormal astrocytic EAAT1 glutamate transporter activity in spinal muscular atrophy is not fully restored after lentiviral SMN delivery., [RefSeq, PubMed]; EAAT1ex9skip splice variant is a negative regulator of full-length EAAT1 function in the human brain, [RefSeq, PubMed]; Identification of Polymorphisms in EAAT1 Glutamate Transporter Gene SLC1A3 Associated with Reduced Migraine Risk. Publication Status: Online-Only, [RefSeq, PubMed]; Microscopic Characterization of the Chloride Permeation Pathway in the Human Excitatory Amino Acid Transporter 1 (EAAT1)., [RefSeq, PubMed]; Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:20477940, PubMed:26690923, PubMed:28032905, PubMed:28424515, PubMed:7521911, PubMed:8123008). 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:20477940). 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:20477940). 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)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 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": 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": 3, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 4, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R5T3;Q4JCQ8", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0015175 neutral L-amino acid transmembrane transporter activity;GO:0005314 high-affinity L-glutamate transmembrane transporter activity;GO:0015501 glutamate:sodium symporter activity;GO:0016595 glutamate binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0043025 neuronal cell body;GO:0045202 synapse", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0006865 amino acid transport;GO:1902476 chloride transmembrane transport;GO:0001504 neurotransmitter uptake;GO:0070633 transepithelial transport", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "P43003-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NF91-1", "uniprot_id": "SYNE1_HUMAN", "mass": 1011086.0, "length": 8797, "protein_name": "Nesprin-1", "gene_name": "SYNE1", "organism": "Human", "refseq_name": "nesprin-1 isoform 1 (nesprin-1 giant or enaptin)", "refseq_ac": "NP_892006", "gene_names_uniprotkb": "SYNE1; C6orf98; KIAA0796; KIAA1262; KIAA1756; MYNE1", "gene_names_refseq": "8B; AMC3; AMCM; ARCA1; C6orf98; CPG2; EDMD4; KASH1; MYNE1; Nesp1; SCAR8; SYNE1; dJ45H2.2", "protein_names_uniprotkb": "Nesprin-1; Enaptin; KASH domain-containing protein 1; KASH1; Myne-1; Myocyte nuclear envelope protein 1; Nuclear envelope spectrin repeat protein 1; Synaptic nuclear envelope protein 1; Syne-1", "protein_names_refseq": "CPG2 full length; KASH domain-containing protein 1; enaptin; myocyte nuclear envelope protein 1; nesprin 1; nesprin-1 isoform 1 (nesprin-1 giant or enaptin); spectrin repeat containing, nuclear envelope 1; synaptic nuclear envelope protein 1; synaptic nuclei expressed gene 1", "tax_id": 9606, "disease": "cerebellar ataxia (Disease Ontology:DOID:0050753); autosomal dominant Emery-Dreifuss muscular dystrophy 4 (Disease Ontology:DOID:0070249); arthrogryposis multiplex congenita (Disease Ontology:DOID:0080954); arthrogryposis multiplex congenita-3 (Disease Ontology:DOID:0080979); autosomal recessive spinocerebellar ataxia 8 (Disease Ontology:DOID:0111618); Emery-Dreifuss muscular dystrophy (Disease Ontology:DOID:11726); bipolar disorder (Disease Ontology:DOID:3312); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:23345); (R-HSA-1221632)", "pathway_count": 2, "publication_count": 115, "publication_id_list": "11237011;11673449;11792814;11801724;12163176;12408964;12808039;15093733;15125634;15235794;16875688;16959974;17081983;17159980;17761684;18396275;18709643;19146767;19542096;20634189;22518138;22632968;23481700;23671687;24123876;24275569;24319099;24714562;24715725;25418920;25576301;25645385;25787250;25880248;26154972;26992070;27397612;27543614;27600516;27782104;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28716842;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29557506;29632046;29632711;29769354;29786170;29789417;30192525;30315122;30379171;30410026;30484775;30833945;31154438;31217245;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33123756;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34509645;34561969;34696226;34932366;35051231;35154160;35494241;35561310;35580925;36010968;36240223;36241641;36284347;37340703;37541260;37938771;38716726;39269294;39302247;8794855;9008167;9285814", "class_list": "", "function": "Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension. Publication Status: Online-Only, [RefSeq, PubMed]; Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nucleus-centrosome attachment and nuclear migration in neural progenitors implicating LINC complex association with SUN1/2 and probably association with cytoplasmic dynein-dynactin motor complexes; SYNE1 and SYNE2 may act redundantly. Required for centrosome migration to the apical cell surface during early ciliogenesis. May be involved in nuclear remodeling during sperm head formation in spermatogenesis; a probable SUN3:SYNE1/KASH1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette., [UniProtKB, PubMed, UniProtKB, PubMed]; This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; [Rare forms of autosomal recessive spinocerebellar ataxia associated with mutations in the ANO10 (ATX-ANO10) and SYNE1 (ATX-SYNE1) genes]., [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": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 261, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 8, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "B3W695;E7EQI5;H0Y4C0;O94890;Q3ZCV0;Q5JV19;Q5JV22;Q8N9P7;Q8TCP1;Q8WWW6;Q8WWW7;Q8WXF6;Q96N17;Q9C0A7;Q9H525;Q9H526;Q9NS36;Q9NU50;Q9UJ06;Q9UJ07;Q9ULF8", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003779 actin binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0090292 nuclear matrix anchoring at nuclear membrane;GO:0007283 spermatogenesis;GO:0007030 Golgi organization;GO:0042692 muscle cell differentiation;GO:1902017 regulation of cilium assembly", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q8NF91-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NY93-1", "uniprot_id": "DDX56_HUMAN", "mass": 61590.0, "length": 547, "protein_name": "Probable ATP-dependent RNA helicase DDX56", "gene_name": "DDX56", "organism": "Human", "refseq_name": "probable ATP-dependent RNA helicase DDX56 isoform 2", "refseq_ac": "NP_001244118", "gene_names_uniprotkb": "DDX56; DDX21; NOH61", "gene_names_refseq": "DDX21; DDX26; DDX56; NOH61", "protein_names_uniprotkb": "Probable ATP-dependent RNA helicase DDX56; 3.6.4.13; ATP-dependent 61 kDa nucleolar RNA helicase; DEAD box protein 21; DEAD box protein 56", "protein_names_refseq": "61-kd nucleolar helicase; ATP-dependent 61 kDa nucleolar RNA helicase; DEAD (Asp-Glu-Ala-Asp) box helicase 56; DEAD (Asp-Glu-Ala-Asp) box polypeptide 56; DEAD box protein 21; DEAD box protein 56; DEAD-box RNA helicase; nucleolar helicase of 61 kDa; probable ATP-dependent RNA helicase DDX56 isoform 2; probable ATP-dependent RNA helicase DDX56; putative nucleolar RNA helicase", "tax_id": 9606, "disease": "", "pathway": " (hsa:54606)", "pathway_count": 1, "publication_count": 98, "publication_id_list": "10.1101/2023.09.13.557529;10749921;11230166;11237011;11593297;12429849;17525332;18991276;19691289;20068231;22424782;22544926;22925334;23186163;23481700;24366607;24714562;24715725;25418920;25576301;25645385;25880248;26154972;26375851;26992070;27600516;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29331515;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30429286;30524438;30779550;30833945;31154438;31217245;31222486;31340999;31445188;31530632;31844290;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33789112;33936100;33968037;33981976;34078123;34087483;34171305;34211107;34405274;34446021;34509645;34561969;34922148;34932366;35051231;35251023;35318648;35561310;35580925;35723050;36010968;36168636;36241641;36284347;36581221;37938771;38665916;40596516", "class_list": "", "function": "(Microbial infection) Helicase activity is important for packaging viral RNA into virions during West Nile virus infection., [UniProtKB, PubMed]; (Microbial infection) Plays a positive role in EMCV replication by interrupting IRF3 phosphorylation and its nucleus translocation., [UniProtKB, PubMed]; (Microbial infection) Plays a positive role in foot-and-mouth disease virus replication by inhibiting the phosphorylation of IRF3 leading to inhibition of type I interferon., [UniProtKB, PubMed]; DDX26 maps to7p12, a region of frequent chromosome amplifications in glioblastoma involving the EGFR gene., [RefSeq, PubMed]; DDX56 modulates post-transcriptional Wnt signaling through miRNAs and is associated with early recurrence in squamous cell lung carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; DDX56 transcriptionally activates MIST1 to facilitate tumorigenesis of HCC through PTEN-AKT signaling. Publication Status: Online-Only, [RefSeq, PubMed]; DEAD-box helicase 56 functions as an oncogene promote cell proliferation and invasion in gastric cancer via the FOXO1/p21 Cip1/c-Myc signaling pathway., [RefSeq, PubMed]; Nucleolar RNA helicase that plays a role in various biological processes including innate immunity, ribosome biogenesis or nucleolus organization (PubMed:31340999, PubMed:33789112). Plays an essential role in maintaining nucleolar integrity in planarian stem cells (PubMed:33789112). Maintains embryonic stem cells proliferation by conventional regulation of ribosome assembly and interaction with OCT4 and POU5F1 complex (By similarity). Regulates antiviral innate immunity by inhibiting the virus-triggered signaling nuclear translocation of IRF3 (PubMed:31340999). Mechanistically, acts by disrupting the interaction between IRF3 and importin IPO5 (PubMed:31340999). May play a role in later stages of the processing of the pre-ribosomal particles leading to mature 60S ribosomal subunits. Has intrinsic ATPase activity., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB]; The DEAD-box helicase DDX56 is a conserved stemness regulator in normal and cancer stem cells., [RefSeq, PubMed]; This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene shows ATPase activity in the presence of polynucleotides and associates with nucleoplasmic 65S preribosomal particles. This gene may be involved in ribosome synthesis, most likely during assembly of the large 60S ribosomal subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [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": 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": 2, "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": "A4D2K9;C9JV95;Q6IAE2;Q9H9I8", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;7.6.2.1;2.3.2.27;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0035613 RNA stem-loop binding;GO:0003724 RNA helicase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0010976 positive regulation of neuron projection development;GO:0051607 defense response to virus;GO:0006364 rRNA processing;GO:0032480 negative regulation of type I interferon production;GO:0044830 host-mediated perturbation of viral RNA genome replication", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q9NY93-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P25686-3", "uniprot_id": "DNJB2_HUMAN", "mass": 35580.0, "length": 324, "protein_name": "DnaJ homolog subfamily B member 2", "gene_name": "DNAJB2", "organism": "Human", "refseq_name": "dnaJ homolog subfamily B member 2 isoform a", "refseq_ac": "NP_001034639", "gene_names_uniprotkb": "DNAJB2; HSJ1; HSPF3", "gene_names_refseq": "CMT2T; DNAJB2; DSMA5; HMNR5; HSJ-1; HSJ1; HSPF3", "protein_names_uniprotkb": "DnaJ homolog subfamily B member 2; HSJ-1; Heat shock 40 kDa protein 3; Heat shock protein J1", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily B, member 2; dnaJ homolog subfamily B member 2 isoform a; dnaJ protein homolog 1; heat shock 40 kDa protein 3; heat shock protein J1; heat shock protein, neuronal DNAJ-like 1", "tax_id": 9606, "disease": "autosomal dominant limb-girdle muscular dystrophy type 1 (Disease Ontology:DOID:0110305); autosomal recessive distal hereditary motor neuronopathy 5 (Disease Ontology:DOID:0111214)", "pathway": " (hsa:3300)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "12754272;15936278;1599432;17322306;17469159;20889486;21625540;21719532;22219199;22396390;22522442;23481700;24023695;24627108;24714562;25274842;25418920;25576301;25892735;26154972;26375851;26811146;26929215;26992070;27600516;27920218;28031292;28063628;28218747;28228285;28467828;28649982;28657654;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29786170;30315122;30379171;30410026;31154438;31217245;31682009;31844290;31848261;32157095;32265295;32350084;32357974;32488085;32938616;33968037;34561969;34932366;35051231;35286755;36010968;36241641;36284347;36746103;38665916;7957263", "class_list": "", "function": "DNAJB2 expression in healthy human palatal mucosa is strongly negatively correlated with serum cotinine levels, [RefSeq, PubMed]; DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening., [RefSeq, PubMed]; Functions as a co-chaperone, regulating the substrate binding and activating the ATPase activity of chaperones of the HSP70/heat shock protein 70 family (PubMed:22219199, PubMed:7957263). In parallel, also contributes to the ubiquitin-dependent proteasomal degradation of misfolded proteins (PubMed:15936278, PubMed:21625540). Thereby, may regulate the aggregation and promote the functional recovery of misfolded proteins like HTT, MC4R, PRKN, RHO and SOD1 and be crucial for many biological processes (PubMed:12754272, PubMed:20889486, PubMed:21719532, PubMed:22396390, PubMed:24023695). Isoform 1 which is localized to the endoplasmic reticulum membranes may specifically function in ER-associated protein degradation of misfolded proteins (PubMed:15936278)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The heat shock protein DNAJB2 as a novel biomarker for essential thrombocythemia diagnosis associated with immune infiltration., [RefSeq, PubMed]; This gene is almost exclusively expressed in the brain, mainly in the neuronal layers. It encodes a protein that shows sequence similarity to bacterial DnaJ protein and the yeast homologs. In bacteria, this protein is implicated in protein folding and protein complex dissociation. 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": 6, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 9, "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": "A8K9P6;Q53QD7;Q8IUK1;Q8IUK2;Q96F52", "ec_number_list": "", "go_molecular_function": "GO:0140036 ubiquitin-modified protein reader activity;GO:0031593 polyubiquitin modification-dependent protein binding;GO:0051082 unfolded protein binding;GO:0051087 protein-folding chaperone binding;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031965 nuclear membrane", "go_biological_process": "GO:0090084 negative regulation of inclusion body assembly;GO:0008285 negative regulation of cell population proliferation;GO:0070050 neuron cellular homeostasis;GO:0032091 negative regulation of protein binding;GO:0032880 regulation of protein localization", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "P25686-3", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IXT1-1", "uniprot_id": "DDIAS_HUMAN", "mass": 111616.0, "length": 998, "protein_name": "DNA damage-induced apoptosis suppressor protein", "gene_name": "DDIAS", "organism": "Human", "refseq_name": "DNA damage-induced apoptosis suppressor protein", "refseq_ac": "NP_659455", "gene_names_uniprotkb": "DDIAS; C11orf82; NOXIN", "gene_names_refseq": "C11orf82; DDIAS; noxin", "protein_names_uniprotkb": "DNA damage-induced apoptosis suppressor protein; Nitric oxide-inducible gene protein", "protein_names_refseq": "DNA damage-induced apoptosis suppressor protein; nitric oxide-inducible gene protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:220042)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;24214091;24715725;25576301;25612832;26154972;26493727;26992070;27412911;28079882;28228285;28618963;28832583;28904123;29242379;29242605;29557506;30379171;30429286;31844290;32157095;32488085;32502341;32897882;33141586;33298915;33592498;33691108;33936100;33968037;34087483;34171305;34211107;35051231;36215666;36241641;37217939", "class_list": "", "function": "DDIAS is a target of NFATc1 and is associated with cisplatin resistance in lung cancer cells., [RefSeq, PubMed]; EGF activates the ERK5/MEF2 pathway, which in turn induces DDIAS expression to promote cancer cell invasion by activating beta-catenin target genes, [RefSeq, PubMed]; High DDIAS expression suppresses TRAIL-mediated apoptosis by inhibiting DISC formation and destabilizing caspase-8 in lung and liver cancer., [RefSeq, PubMed]; May be an anti-apoptotic protein involved in DNA repair or cell survival., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; NOXIN overexpression, as a result of genomic DNA gain or amplification, promotes HCC tumorigenesis by accelerating DNA synthesis and cell cycle progression, where NOXIN functions as a cofactor of DNA polymerase-primase complex, [RefSeq, PubMed]; Noxin facilitated the expression of Cyclin D1 and Cyclin E1 through activating P38-activating transcription factor 2 signaling pathway, thus enhanced cell growth of breast cancer, [RefSeq, PubMed]; These findings indicate that the stability of the DDIAS protein is regulated by CHIP/HSP70-mediated proteasomal degradation and that CHIP overexpression stimulates the apoptosis of lung cancer cells in response to DNA-damaging agents 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96LK6;Q9H856", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:1902230 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;GO:0006915 apoptotic process;GO:0097752 regulation of DNA stability;GO:0051726 regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q8IXT1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5TDH0-1", "uniprot_id": "DDI2_HUMAN", "mass": 44523.0, "length": 399, "protein_name": "Protein DDI1 homolog 2", "gene_name": "DDI2", "organism": "Human", "refseq_name": "protein DDI1 homolog 2", "refseq_ac": "NP_115717", "gene_names_uniprotkb": "DDI2", "gene_names_refseq": "DDI2; RSC1A1", "protein_names_uniprotkb": "Protein DDI1 homolog 2; 3.4.23.-", "protein_names_refseq": "DDI1, DNA-damage inducible 1, homolog 2; DNA damage inducible 1 homolog 2; DNA-damage inducible protein 2 (DDI2); protein DDI1 homolog 2; regulator of solute carriers 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84301)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;12838346;17081983;18669648;19413330;19664995;19690332;20068231;20230923;21406692;23186163;23301498;23481700;25576301;26375851;26992070;27461074;27528193;27676298;27846572;27920218;28510447;28904123;29242379;29290612;29393594;29557506;29632046;29632711;29786170;30379171;31844290;31998317;32157095;32387766;32521225;32897882;32938616;32983136;33141586;33298915;33592498;35051231;35580925;37084817;37217939", "class_list": "", "function": "Aspartic protease that mediates the cleavage of NFE2L1/NRF1 at 'Leu-104', thereby promoting release of NFE2L1/NRF1 from the endoplasmic reticulum membrane (PubMed:27528193, PubMed:27676298). Ubiquitination of NFE2L1/NRF1 is a prerequisite for cleavage, suggesting that DDI2 specifically recognizes and binds ubiquitinated NFE2L1/NRF1 (PubMed:27528193). Seems to act as a proteasomal shuttle which links the proteasome and replication fork proteins like RTF2 (Probable). Required, with DDI1, for cellular survival following replication stress. Together or redundantly with DDI1, removes RTF2 from stalled forks to allow cell cycle progression after replication stress and maintains genome integrity (PubMed:29290612)., [UniProtKB, PubMed, PubMed, PubMed]; DDI2 Is a Ubiquitin-Directed Endoprotease Responsible for Cleavage of Transcription Factor NRF1., [RefSeq, PubMed]; Here the authors show that the aspartyl protease DNA-damage inducible 1 homolog 2 (DDI2) is required to cleave and activate Nrf1. Publication Status: Online-Only, [RefSeq, PubMed]; The 3D structures of the human Ddi2 UBL and RVP domains were solved and identified a new helical domain that extends on either side of the Rretroviral protease-like dimer. Publication Status: Online-Only, [RefSeq, PubMed]; UBE4A catalyzes NRF1 ubiquitination and facilitates DDI2-mediated NRF1 cleavage., [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": 10, "reported_mutagensis": 1, "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": "A8KAE1;Q7RTZ0;Q9BRT1", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0043130 ubiquitin binding;GO:0004190 aspartic-type endopeptidase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005694 chromosome", "go_biological_process": "GO:0016485 protein processing;GO:0031647 regulation of protein stability;GO:0010498 proteasomal protein catabolic process;GO:0097752 regulation of DNA stability;GO:0072711 cellular response to hydroxyurea", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q5TDH0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14318-1", "uniprot_id": "FKBP8_HUMAN", "mass": 44562.0, "length": 412, "protein_name": "Peptidyl-prolyl cis-trans isomerase FKBP8", "gene_name": "FKBP8", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase FKBP8 isoform 2", "refseq_ac": "NP_001295302", "gene_names_uniprotkb": "FKBP8; FKBP38", "gene_names_refseq": "FKBP38; FKBP8; FKBPr38", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase FKBP8; 38 kDa FK506-binding protein; 38 kDa FKBP; 5.2.1.8; FK506-binding protein 8; FKBP-38; FKBP-8; FKBPR38; PPIase FKBP8; Rotamase; hFKBP38", "protein_names_refseq": "38 kDa FK506-binding protein; 38 kDa FKBP; FK506 binding protein 8, 38kDa; FK506-binding protein 8; PPIase FKBP8; peptidyl-prolyl cis-trans isomerase FKBP8 isoform 2; peptidyl-prolyl cis-trans isomerase FKBP8; rotamase", "tax_id": 9606, "disease": "spina bifida (Disease Ontology:DOID:0080016); clubfoot (Disease Ontology:DOID:11836)", "pathway": " (hsa:23770); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 151, "publication_id_list": "10444327;10982817;11237011;11566882;11923872;12510191;12894220;12917689;12917691;14661020;15053880;15105374;15592455;15733859;15757646;15916963;15990872;16176796;16214042;16604427;16844119;16901786;16964248;17090549;17290220;17443180;17873522;17980597;17981138;18172164;18385096;18459960;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20096447;20140889;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;22645359;23159851;23186163;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24714562;24715725;24896179;25197364;25305019;25576301;25578727;25621951;25880248;26154972;26375851;26811146;26992070;27600516;27862975;27920218;28063628;28169297;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30410026;30429286;31217245;31530632;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34211107;34357683;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36504053;37938771;37947640;38218360;38250761;38665916;39192374;40246839;40914422;7543869;7578059", "class_list": "", "function": "Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The BCL2/FKBP8/calmodulin/calcium complex probably interferes with the binding of BCL2 to its targets. The active form of FKBP8 may therefore play a role in the regulation of apoptosis. Involved in the inhibition of viral infection by influenza A viruses (IAV) (PubMed:28169297)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; FKBP38 Regulates Self-Renewal and Survival of GBM Neurospheres. Publication Status: Online-Only, [RefSeq, PubMed]; FKBP38 plays a role in TSC gene-dependent cell size regulation., [RefSeq, PubMed]; FKBP38 suppresses endometrial cancer cell proliferation and metastasis by inhibiting the mTOR pathway., [RefSeq, PubMed]; GPX4 inhibits apoptosis of thyroid cancer cells through regulating the FKBP8/Bcl-2 axis., [RefSeq, PubMed]; The novel circFKBP8/miR-432-5p/E2F7 cascade functions as a regulatory network in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008]., [RefSeq]; [Fkbp38 deletion induces premature ovarian insufficiency in mice by activating mTOR signaling and inducing granulosa cell apoptosis]., [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": 2, "reported_glycation": 0, "reported_snv": 5, "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": "C8C9T5;Q53GU3;Q7Z349;Q86YK6", "ec_number_list": "5.2.1.8;3.4.24.56;3.4.19.12;3.6.5.-;2.3.2.27;3.1.1.29", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0097718 disordered domain specific binding;GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005740 mitochondrial envelope;GO:0005829 cytosol;GO:0016020 membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0070585 protein localization to mitochondrion;GO:0035556 intracellular signal transduction;GO:0043066 negative regulation of apoptotic process;GO:0001933 negative regulation of protein phosphorylation;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "Q14318-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P78559-1", "uniprot_id": "MAP1A_HUMAN", "mass": 305485.0, "length": 2803, "protein_name": "Microtubule-associated protein 1A", "gene_name": "MAP1A", "organism": "Human", "refseq_name": "microtubule-associated protein 1A isoform 1", "refseq_ac": "NP_002364", "gene_names_uniprotkb": "MAP1A; MAP1L", "gene_names_refseq": "MAP1A; MAP1L; MTAP1A", "protein_names_uniprotkb": "Microtubule-associated protein 1A; MAP-1A; Proliferation-related protein p80", "protein_names_refseq": "MAP-1A; microtubule-associated protein 1A isoform 1; proliferation-related protein p80", "tax_id": 9606, "disease": "hypothyroidism (Disease Ontology:DOID:1459)", "pathway": " (hsa:4130)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;14978097;15144186;15592455;17081983;17525332;17547437;18419581;18491316;18510355;19413330;19415658;19651622;19664994;19690332;20068231;20630806;21406692;22028470;23186163;23481700;24714562;24715725;25576301;25645385;26992070;27846572;28228285;28657654;28832583;28834231;29242379;29557506;29786170;30315122;30379171;30524438;31768057;31844290;32157095;32387766;32502341;32938616;33392160;33592498;33968037;33981976;34087483;35051231;35132862;35580925;36010968;38665916;7629894;8812494", "class_list": "", "function": "Analysis across Autism Spectrum Disorder and Attention Defecit Hyperactivity Disorder, identifyies microtubule-associated protein 1A (MAP1A) as a new exome-wide significant gene conferring risk for childhood psychiatric disorders., [RefSeq, PubMed]; Structural protein involved in the filamentous cross-bridging between microtubules and other skeletal elements., [UniProtKB]; This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008]., [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": 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": 92, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 68, "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": "O95643;Q12973;Q15882;Q9UJT4", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0008017 microtubule binding;GO:0005198 structural molecule activity;GO:0008093 cytoskeletal anchor activity;GO:0048156 tau protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule;GO:0030424 axon;GO:0030425 dendrite", "go_biological_process": "GO:0050882 voluntary musculoskeletal movement;GO:0099641 anterograde axonal protein transport;GO:0007409 axonogenesis;GO:0007613 memory;GO:0008306 associative learning", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "P78559-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P18858-1", "uniprot_id": "DNLI1_HUMAN", "mass": 101736.0, "length": 919, "protein_name": "DNA ligase 1", "gene_name": "LIG1", "organism": "Human", "refseq_name": "DNA ligase 1 isoform 3", "refseq_ac": "NP_001275993", "gene_names_uniprotkb": "LIG1", "gene_names_refseq": "IMD96; LIG1; LIGI; hLig1", "protein_names_uniprotkb": "DNA ligase 1; 6.5.1.1; DNA ligase I; Polydeoxyribonucleotide synthase [ATP] 1", "protein_names_refseq": "DNA ligase 1 isoform 3; ligase I, DNA, ATP-dependent; polydeoxyribonucleotide synthase [ATP] 1", "tax_id": 9606, "disease": "immunodeficiency 96 (Disease Ontology:DOID:0061066); cancer (Disease Ontology:DOID:162); primary immunodeficiency disease (Disease Ontology:DOID:612); inherited metabolic disorder (Disease Ontology:DOID:655); epilepsy with generalized tonic-clonic seizures (Disease Ontology:DOID:7725)", "pathway": " (hsa:3978); (R-HSA-110362); (R-HSA-162594); (R-HSA-174414); (R-HSA-5358565); (R-HSA-5358606); (R-HSA-5651801); (R-HSA-5685938); (R-HSA-5696397); (R-HSA-6782210); (R-HSA-69183); (R-HSA-9825895)", "pathway_count": 12, "publication_count": 248, "publication_id_list": "10.1101/2023.09.13.557529;10078208;10212258;10364231;10438626;10460157;10473346;10523317;10559261;10660545;10744741;10744977;10881997;10921897;10938287;10959839;11005803;11237011;11250913;11264352;11274057;11340072;11440997;11441019;11554294;11571269;11601988;11687589;11698410;11809771;11809883;11884592;12139939;12191481;12200445;12226092;12370410;12379650;12727891;12750383;12851383;1328683;14636568;14676842;14734547;15135726;15183342;15193131;15225546;15302935;15485900;15561706;15565146;15607977;15731342;1581963;16143102;16188885;16278211;16409631;16464020;1671046;16793375;16855289;16873062;16959974;16964243;17081983;17322306;17426132;17531815;17548475;17693683;17924679;17962301;17984070;17991898;18212344;18326858;18452278;18539610;18541667;18669648;18757400;18767875;1881902;19223468;19228687;19279666;19329425;19336415;19413330;19415658;19651622;19664994;19664995;19690332;1974050;19778542;20058876;20068231;20154325;20160730;20227374;20230923;20571119;20573551;20713735;20965415;20970388;21183466;21282463;21398629;21406692;21496642;21561855;21804533;21872626;21937421;21993680;2204063;22118461;22179786;22277660;22424782;22433848;22460582;22952233;23065663;23186163;23391514;23481700;23622243;23840062;24038470;24715725;24911150;25418920;25576301;25645385;25802875;25892735;26154972;26375851;26992070;27600516;27846572;27849570;27920218;28218747;28228285;2842325;28649982;28832583;28834231;28860189;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;29789417;3004351;30315122;30395541;30484775;30524438;31217245;31630206;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34405274;34509645;34725712;34932366;35051231;35138101;35154160;35561310;35580925;36010968;36215666;36241641;36625284;36928068;37369482;37938771;38522520;39231317;40914422;6278323;7687060;7745750;8003475;8104944;8128251;8144677;8264597;8505312;8663274;8702565;8805365;9081985;9099749;9214649;9294177;9428522;9430682;9469823;9649448;9677427;9685411;9780000;9786870;9804757;9822680;9837724;9875289;9882630", "class_list": "", "function": "DNA ligase that seals nicks in double-stranded during DNA repair (PubMed:30395541). Also involved in DNA replication and DNA recombination., [UniProtKB, PubMed]; DNA ligase that seals nicks in double-stranded during DNA repair. Also involved in DNA replication and DNA recombination., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Human DNA ligases I and III have stand-alone end-joining capability, but differ in ligation efficiency and specificity., [RefSeq, PubMed]; MiR-325 Supresses Cell Proliferation and Migration in Non-Small Cell Lung Cancer via Targeting DNA Ligase 1 (LIG1)., [RefSeq, PubMed]; Structures of LIG1 provide a mechanistic basis for understanding a lack of sugar discrimination against a ribonucleotide at the 3'-end of nick DNA., [RefSeq, PubMed]; The Association of DNA Ligase 1 Rs20579 Polymorphism With Lung Cancer Risk Among Taiwanese., [RefSeq, PubMed]; This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. Disruption of this gene may also be associated with a variety of cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]., [RefSeq]; Unchanged PCNA and DNMT1 dynamics during replication in DNA ligase I-deficient cells but abnormal chromatin levels of non-replicative histone H1. 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": 37, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 25, "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": "B2RAI8;B4DTU4;Q2TB12;Q32P23", "ec_number_list": "3.6.4.13;2.7.7.7;4.2.99.18;4.2.99.-;5.6.2.3;6.5.1.1;5.6.2.4;3.1.13.-;2.7.7.48;2.7.7.6;3.1.11.2;3.1.21.-;3.1.11.-;2.3.2.27;3.1.-.-;2.7.11.22;2.7.11.23;2.7.11.24;2.3.2.32;5.2.1.8;3.6.4.-;2.7.11.1;5.6.2.1;3.6.-.-;2.3.1.48;2.3.1.-;3.4.19.12", "go_molecular_function": "GO:0003909 DNA ligase activity;GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0003910 DNA ligase (ATP) activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0071897 DNA biosynthetic process;GO:0006273 lagging strand elongation;GO:0032201 telomere maintenance via semi-conservative replication;GO:0006287 base-excision repair, gap-filling;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 25.3, "record_id": "P18858-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99717-1", "uniprot_id": "SMAD5_HUMAN", "mass": 52258.0, "length": 465, "protein_name": "SMAD family member 5", "gene_name": "SMAD5", "organism": "Human", "refseq_name": "SMAD family member 5", "refseq_ac": "NP_001001419", "gene_names_uniprotkb": "SMAD5; MADH5", "gene_names_refseq": "DWFC; JV5-1; MADH5; SMAD5", "protein_names_uniprotkb": "SMAD family member 5; JV5-1; MAD homolog 5; Mothers against DPP homolog 5; Mothers against decapentaplegic homolog 5; SMAD 5; hSmad5", "protein_names_refseq": "MAD, mothers against decapentaplegic homolog 5; SMA- and MAD-related protein 5; SMAD family member 5; SMAD, mothers against DPP homolog 5; mothers against decapentaplegic, drosophila, homolog of, 5", "tax_id": 9606, "disease": "juvenile polyposis syndrome (Disease Ontology:DOID:0050787)", "pathway": " (hsa:4090); (R-HSA-201451)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "10458166;10587654;10647776;10708948;10708949;10712517;11016919;11121043;11158580;11237011;11278251;11509558;11571290;11714695;11779505;12064918;12151385;12370310;12519765;12592392;12821673;12849988;12857866;15107829;15647271;16516194;16672363;17029022;17068149;17081983;17311849;17322306;17356069;18669648;19413330;19651622;19664995;20068231;22223895;25755279;25892735;26992070;28228285;28514659;28542453;28675158;28832583;28834231;29242379;29331515;29786170;30315122;30379171;30429286;31092671;31154438;31844290;33510867;33592498;33968037;35051231;35573984;37303938;37533355;37674252;38246328;38253038;38665916;38703029;40307207;40596516;7644468;7791754;8119126;8637600;8653785;8673135;8893010;9136927;9264367;9288787;9436979;9442019;9484787;9759503", "class_list": "", "function": "Circ_0001825 promotes osteogenic differentiation in human-derived mesenchymal stem cells via miR-1270/SMAD5 axis. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA MALAT1 promotes osteogenic differentiation through the miR-93-5p/SMAD5 axis., [RefSeq, PubMed]; Long noncoding RNA BMPR1B-AS1 stability regulated by IGF2BP2 affects the decidualization in endometriosis patients through the SMAD1/5/9 pathway., [RefSeq, PubMed]; Long noncoding RNA TMEM147-AS1 serves as a microRNA-326 sponge to aggravate the malignancy of gastric cancer by upregulating SMAD5. Publication Status: Online-Only, [RefSeq, PubMed]; Lrg1 silencing attenuates ischemia-reperfusion renal injury by regulating autophagy and apoptosis through the TGFbeta1- Smad1/5 signaling pathway., [RefSeq, PubMed]; The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]., [RefSeq]; Transcriptional regulator that plays a role in various cellular processes including embryonic development, cell differentiation, angiogenesis and tissue homeostasis (PubMed:12064918, PubMed:16516194). Upon BMP ligand binding to their receptors at the cell surface, is phosphorylated by activated type I BMP receptors (BMPRIs) and associates with SMAD4 to form a heteromeric complex which translocates into the nucleus acting as transcription factor (PubMed:9442019). In turn, the hetero-trimeric complex recognizes cis-regulatory elements containing Smad Binding Elements (SBEs) to modulate the outcome of the signaling network (PubMed:33510867). Non-phosphorylated SMAD5 has a cytoplasmic role in energy metabolism regulation by promoting mitochondrial respiration and glycolysis in response to cytoplasmic pH changes (PubMed:28675158). Mechanistically, interacts with hexokinase 1/HK1 and thereby accelerates glycolysis (PubMed:28675158)., [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": 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": 1, "reported_glycation": 0, "reported_snv": 6, "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": "O14688;Q15798;Q9UQA1", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0046872 metal ion binding;GO:0031625 ubiquitin protein ligase 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:0071144 heteromeric SMAD protein complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007165 signal transduction;GO:0010629 negative regulation of gene expression;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q99717-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z2W4-1", "uniprot_id": "ZCCHV_HUMAN", "mass": 101431.0, "length": 902, "protein_name": "Zinc finger CCCH-type antiviral protein 1", "gene_name": "ZC3HAV1", "organism": "Human", "refseq_name": "zinc finger CCCH-type antiviral protein 1 isoform 1", "refseq_ac": "NP_064504", "gene_names_uniprotkb": "ZC3HAV1; PRO1677; ZC3HDC2", "gene_names_refseq": "ARTD13; FLB6421; PARP13; ZAP; ZC3H2; ZC3HAV1; ZC3HDC2", "protein_names_uniprotkb": "Zinc finger CCCH-type antiviral protein 1; ADP-ribosyltransferase diphtheria toxin-like 13; ARTD13; Inactive Poly [ADP-ribose] polymerase 13; PARP13; ZAP; Zinc finger CCCH domain-containing protein 2; Zinc finger antiviral protein", "protein_names_refseq": "ADP-ribosyltransferase diphtheria toxin-like 13; inactive Poly [ADP-ribose] polymerase 13; zinc finger CCCH domain-containing protein 2; zinc finger CCCH-type antiviral protein 1 isoform 1; zinc finger CCCH-type antiviral protein 1; zinc finger CCCH-type, antiviral 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56829); (R-HSA-6802952)", "pathway_count": 2, "publication_count": 150, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12851707;15630448;16964243;17081983;17322306;17924679;18077418;18088087;18220336;18225958;18418085;18452278;18669648;18691976;18767875;18974108;19413330;19415658;19651622;19664994;19664995;19690332;20058876;20068230;20068231;20106667;20166139;20181706;20451500;20526349;21102435;21169998;21204022;21406692;21424530;21876179;22223895;22720057;22745804;23186163;23301498;23583981;24135138;24190977;24275569;24345920;24715725;25043379;25204415;25576301;25635049;25810538;25880248;25907612;26001115;26154972;26992070;27600516;27655845;27846572;28228285;28314751;28510447;28514659;28832583;28834231;28904123;29242379;29351928;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30379171;30429286;30484775;30573663;30620550;30833945;31154438;31217245;31373491;31492838;31530632;31611695;31844290;31848261;31937595;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32866210;32897882;32938616;32983136;33141586;33214551;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34229054;34357683;34405274;34509645;34561969;34725712;34937041;35051231;35132862;35138101;35154160;35165300;35251023;35254053;35318648;35561310;35580925;35881805;36010968;36215666;36241641;36284347;37221558;37938771;38253038;38665916;39183472;39531497;40307207;40596516", "class_list": "", "function": "Antiviral protein which inhibits the replication of viruses by recruiting the cellular RNA degradation machineries to degrade the viral mRNAs (PubMed:32866210). Binds to a ZAP-responsive element (ZRE) present in the target viral mRNA, recruits cellular poly(A)-specific ribonuclease PARN to remove the poly(A) tail, and the 3'-5' exoribonuclease complex exosome to degrade the RNA body from the 3'-end. It also recruits the decapping complex DCP1-DCP2 through RNA helicase p72 (DDX17) to remove the cap structure of the viral mRNA to initiate its degradation from the 5'-end. Its target viruses belong to families which include retroviridae, including human immunodeficiency virus type 1, filoviridae: ebola virus (EBOV) and marburg virus (MARV), togaviridae: sindbis virus (SINV) and Ross river virus (RRV). Specifically targets the multiply spliced but not unspliced or singly spliced HIV-1 mRNAs for degradation., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Association of ZC3HAV1 single nucleotide polymorphisms with the susceptibility of Vogt-Koyanagi-Harada Disease. Publication Status: Online-Only, [RefSeq, PubMed]; Endogenous ZAP affects Zika virus RNA interactome., [RefSeq, PubMed]; Exhibits stronger antiviral activity than isoform 2 against MuLV expression and Semliki forest virus infection (PubMed:18225958). Increased antiviral activity may be due to more efficient targeting to endocytic membranes through S-farnesylation (By similarity). Similarly to isoform 2, prevents HIV-1 infection (PubMed:21876179)., [UniProtKB, UniProtKB, PubMed, PubMed]; Expression of Zinc-Finger Antiviral Protein in hCMEC/D3 Human Cerebral Microvascular Endothelial Cells: Effect of a Toll-Like Receptor 3 Agonist., [RefSeq, PubMed]; Positive regulator of RIGI signaling during the innate antiviral immune response. Associates with RIGI to promote its oligomerization and ATPase activity stimulation, leading to robust activation of IRF3 and NF-kappa-B transcription factors and eventually to the expression of type I IFNs and IFN stimulated genes (ISGs) (PubMed:21102435). Similarly to isoform 1, prevents HIV-1 infection (PubMed:21876179)., [UniProtKB, PubMed, PubMed]; The low abundance of CpG in the SARS-CoV-2 genome is not an evolutionarily signature of ZAP. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a CCCH-type zinc finger protein. This antiviral protein inhibits viral replication by recruiting cellular RNA degradation machineries to degrade viral mRNAs. The encoded protein plays an important role in the innate immune response against multiple DNA and RNA viruses, including Ebola virus, HIV and SARS-CoV-2 (which causes COVID-19). [provided by RefSeq, Sep 2021]., [RefSeq]; ZAP isoforms regulate unfolded protein response and epithelial- mesenchymal transition., [RefSeq, PubMed]; ZAP, TIPARP and FLJ22693 proteins with TPH, WW and PARP-like domains constitute the TIPARP family., [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": 3, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 31, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A4D1R2;A4D1S4;Q8IW57;Q8TAJ3;Q96N79;Q9H8R9;Q9P0Y7", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0045296 cadherin binding;GO:0003950 NAD+ poly-ADP-ribosyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0005764 lysosome", "go_biological_process": "GO:0032727 positive regulation of interferon-alpha production;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0045071 negative regulation of viral genome replication;GO:0009615 response to virus", "synthesized_glycan_count": 0, "hit_score": 16.6, "record_id": "Q7Z2W4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NFE3-1", "uniprot_id": "EFC10_HUMAN", "mass": 14721.0, "length": 127, "protein_name": "EF-hand calcium-binding domain-containing protein 10", "gene_name": "EFCAB10", "organism": "Human", "refseq_name": "EF-hand calcium-binding domain-containing protein 10 isoform 1", "refseq_ac": "NP_001342455", "gene_names_uniprotkb": "EFCAB10", "gene_names_refseq": "EFCAB10", "protein_names_uniprotkb": "EF-hand calcium-binding domain-containing protein 10", "protein_names_refseq": "EF-hand calcium-binding domain-containing protein 10 isoform 1; EF-hand domain-containing protein; eF-hand calcium-binding domain-containing protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:100130771)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;28832583", "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:0005509 calcium ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NFE3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q008S8-1", "uniprot_id": "ECT2L_HUMAN", "mass": 104880.0, "length": 904, "protein_name": "Epithelial cell-transforming sequence 2 oncogene-like", "gene_name": "ECT2L", "organism": "Human", "refseq_name": "epithelial cell-transforming sequence 2 oncogene-like", "refseq_ac": "NP_001071174", "gene_names_uniprotkb": "ECT2L; C6orf91; LFDH", "gene_names_refseq": "ARHGEF32; C6orf91; ECT2L; FBXO49; LFDH; dJ509I19.2; dJ509I19.3; dJ509I19.5", "protein_names_uniprotkb": "Epithelial cell-transforming sequence 2 oncogene-like; Lung-specific F-box and DH domain-containing protein; Putative guanine nucleotide exchange factor LFDH", "protein_names_refseq": "ECT2-like; F-box protein 49; epithelial cell-transforming sequence 2 oncogene-like; lung specific F-box and DH domain containing protein; putative guanine nucleotide exchange factor LFDH", "tax_id": 9606, "disease": "", "pathway": " (hsa:345930)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;20379614;29557506;31844290;33592498;35051231", "class_list": "", "function": "Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) Erratum:[Mol Med. 2012;18(1):729], [RefSeq, PubMed]; May act as a guanine nucleotide exchange factor (GEF)., [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": 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": "B2RUV6;Q5JWK2;Q5JWK3;Q5JWK4", "ec_number_list": "", "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q008S8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NW81-1", "uniprot_id": "DMAC2_HUMAN", "mass": 29267.0, "length": 257, "protein_name": "Distal membrane-arm assembly complex protein 2", "gene_name": "DMAC2", "organism": "Human", "refseq_name": "distal membrane-arm assembly complex protein 2 isoform 1", "refseq_ac": "NP_001161339", "gene_names_uniprotkb": "DMAC2; ATP5SL", "gene_names_refseq": "ATP5SL; DMAC2", "protein_names_uniprotkb": "Distal membrane-arm assembly complex protein 2; ATP synthase subunit s-like protein", "protein_names_refseq": "ATP synthase subunit s-like protein; ATP5S like; distal membrane arm assembly complex 2; distal membrane-arm assembly complex protein 2 isoform 1; distal membrane-arm assembly complex protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55101); (R-HSA-6799198)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "11220739;11237011;17936786;19752196;20406883;20552642;20858599;20877624;21924235;23186163;23553477;24191001;25678554;27499296;27626371;28510447;29493099;31666358;31844290;31866046;32320651;32488085;33691108;33879611;33882309;33912179;33968037;34357683;35333655;35614220;38199007;9571201", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I., [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": 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": "B4DDC0;B4DMZ4;B4DP55;B4DXE8;F5H4W7;K7EMF6;Q96D43", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9NW81-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43561-1", "uniprot_id": "LAT_HUMAN", "mass": 27930.0, "length": 262, "protein_name": "Linker for activation of T-cells family member 1", "gene_name": "LAT", "organism": "Human", "refseq_name": "linker for activation of T-cells family member 1 isoform b", "refseq_ac": "NP_001014987", "gene_names_uniprotkb": "LAT", "gene_names_refseq": "IMD52; LAT1; LAT; pp36", "protein_names_uniprotkb": "Linker for activation of T-cells family member 1; 36 kDa phosphotyrosine adapter protein; p36-38; pp36", "protein_names_refseq": "36 kDa phospho-tyrosine adapter protein; 36 kDa phospho-tyrosine adaptor protein; 36 kDa phosphotyrosine adapter protein; linker for activation of T cells, transmembrane adaptor; linker for activation of T-cells family member 1 isoform b; linker for activation of T-cells family member 1; p36-38", "tax_id": 9606, "disease": "IgG4-related disease (Disease Ontology:DOID:0080356); immunodeficiency 52 (Disease Ontology:DOID:0111983)", "pathway": " (hsa:27040); (R-HSA-114604); (R-HSA-202433)", "pathway_count": 3, "publication_count": 90, "publication_id_list": "10026222;10072481;10469124;10488157;10671560;10747096;10781611;10811803;10942756;11048639;11237011;11259588;11262396;11368773;11390650;11481033;11607830;11752630;12186560;12813055;12832405;12913111;14510693;14696041;15029250;15144186;15192708;15659558;15708849;16160011;16174766;16938345;17616532;17652306;18088087;18589439;1874735;18955485;19409513;19690332;19700402;19850008;22267732;23514740;25907557;26154972;27242165;27522155;27700984;2841328;28736554;28832583;29242379;29351928;29493099;29557506;31154438;31844290;32983136;33141586;33458942;33562083;33572370;33912179;34357683;34924127;35051231;35580925;36205741;37217939;38253038;7565724;7624799;8246984;8617742;8673706;8798379;8824201;8986718;8990121;9028946;9115214;9438848;9489702;9529333;9729044;9768361;9846482;9846483;9895304", "class_list": "", "function": "A Novel, LAT/Lck Double Deficient T Cell Subline J.CaM1.7 for Combined Analysis of Early TCR Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of LAT/ZAP70 characterized immune subtypes of prostate cancer., [RefSeq, PubMed]; L-type amino acid transporter 1 as a target for inflammatory disease and cancer immunotherapy. Review article, [RefSeq, PubMed]; LAT is required for T cell activation., [RefSeq, PubMed]; Required for TCR (T-cell antigen receptor)- and pre-TCR-mediated signaling, both in mature T-cells and during their development (PubMed:23514740, PubMed:25907557). Involved in FCGR3 (low affinity immunoglobulin gamma Fc region receptor III)-mediated signaling in natural killer cells and FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Couples activation of these receptors and their associated kinases with distal intracellular events such as mobilization of intracellular calcium stores, PKC activation, MAPK activation or cytoskeletal reorganization through the recruitment of PLCG1, GRB2, GRAP2, and other signaling molecules., [UniProtKB, PubMed, PubMed, PubMed]; Retrograde and Anterograde Transport of Lat-Vesicles during the Immunological Synapse Formation: Defining the Finely-Tuned Mechanism. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is phosphorylated by ZAP-70/Syk protein tyrosine kinases following activation of the T-cell antigen receptor (TCR) signal transduction pathway. This transmembrane protein localizes to lipid rafts and acts as a docking site for SH2 domain-containing proteins. Upon phosphorylation, this protein recruits multiple adaptor proteins and downstream signaling molecules into multimolecular signaling complexes located near the site of TCR engagement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; The role of prolines and glycine in the transmembrane domain of LAT., [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": 31, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 7, "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": "B7WPI0;C7C5T6;G5E9K3;O43919", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0035591 signaling adaptor activity;GO:0030159 signaling receptor complex adaptor activity;GO:0140693 molecular condensate scaffold activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0016020 membrane;GO:0045121 membrane raft;GO:0008180 COP9 signalosome", "go_biological_process": "GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007229 integrin-mediated signaling pathway;GO:0019722 calcium-mediated signaling;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "O43561-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P78332-1", "uniprot_id": "RBM6_HUMAN", "mass": 128644.0, "length": 1123, "protein_name": "RNA-binding protein 6", "gene_name": "RBM6", "organism": "Human", "refseq_name": "RNA-binding protein 6 isoform 2", "refseq_ac": "NP_001161054", "gene_names_uniprotkb": "RBM6; DEF3", "gene_names_refseq": "3G2; DEF-3; DEF3; HLC-11; NY-LU-12; RBM6; g16", "protein_names_uniprotkb": "RNA-binding protein 6; Lung cancer antigen NY-LU-12; Protein G16; RNA-binding motif protein 6; RNA-binding protein DEF-3", "protein_names_refseq": "RNA-binding protein 6 isoform 2; RNA-binding protein 6; RNA-binding protein DEF-3; lung cancer antigen NY-LU-12; lung cancer protooncogene 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:10180)", "pathway_count": 1, "publication_count": 77, "publication_id_list": "10.1101/2023.09.13.557529;10352938;10353602;11085536;11237011;15302935;16964243;17081983;17525332;18452278;18669648;18691976;19651622;19664994;19664995;19690332;20068231;20716133;23186163;23481700;24275569;24714562;25218447;25418920;25576301;25755297;25772364;25880248;25892735;26154972;26375851;27600516;27862975;27920218;28228285;28649982;28832583;28834231;28904123;29242379;29393594;29557506;29632711;29769354;29789417;30192525;30315122;30379171;30410026;30772516;31207145;31844290;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34076986;34718714;35051231;35254053;35318648;35580925;36284347;39894887;40596516;9500467", "class_list": "", "function": "RBM6 splicing factor promotes homologous recombination repair of double-strand breaks and modulates sensitivity to chemotherapeutic drugs., [RefSeq, PubMed]; RNA-Binding Motif Protein 6 is a Candidate Serum Biomarker for Pancreatic Cancer, [RefSeq, PubMed]; RNA-binding protein RBM6 acts as a tumor suppressor gene to inhibit the progression of hepatocellular carcinoma., [RefSeq, PubMed]; Specifically binds poly(G) RNA homopolymers in vitro., [UniProtKB]; Upregulation of RBM6 reduced the expression of EGFR, ERK and p-ERK in vitro and in vivo. Data suggest that RBM6 as a tumor suppressor represses the growth and progression in laryngocarcinoma., [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": 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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "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": "B4E0G6;O60549;O75524;Q86SS3", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006396 RNA processing;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "P78332-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00750-1", "uniprot_id": "P3C2B_HUMAN", "mass": 184768.0, "length": 1634, "protein_name": "Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta", "gene_name": "PIK3C2B", "organism": "Human", "refseq_name": "phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta isoform 1", "refseq_ac": "NP_002637", "gene_names_uniprotkb": "PIK3C2B", "gene_names_refseq": "C2-PI3K; PIK3C2B", "protein_names_uniprotkb": "Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta; 2.7.1.137; 2.7.1.154; C2-PI3K; PI3K-C2-beta; Phosphoinositide 3-kinase-C2-beta; PtdIns-3-kinase C2 subunit beta", "protein_names_refseq": "PI3K-C2-beta; PI3K-C2beta; PTDINS-3-kinase C2 beta; phosphatidylinositol 3-kinase C2 domain-containing beta polypeptide; phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta isoform 1; phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta; phosphoinositide 3-kinase-C2-beta; phosphoinositide-3-kinase, class 2, beta polypeptide; ptdIns-3-kinase C2 subunit beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:5287); (R-HSA-1660499)", "pathway_count": 2, "publication_count": 128, "publication_id_list": "10.1101/2023.09.13.557529;10194451;10224048;10555148;10559940;10593988;10753883;10805725;10822173;11001876;11084340;11237011;11279162;11302699;11349134;11533253;11604140;11676921;11733541;11877430;11923287;12101241;12118066;12324459;12422219;12536145;12646134;12808147;12847086;14516276;14563213;14617813;14660569;15080793;15107860;15135396;15464023;15716355;15797027;15840652;16154996;16399794;16476736;16522682;16914545;16979564;17008356;17245604;17651088;18093523;18669648;18753295;19038970;19896968;20534812;21204784;22037487;22424782;22544926;22647598;23519112;23758345;25495341;25505266;25880248;26154972;26992070;27846572;28904123;29437277;29557506;30315122;30410026;30429286;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33633747;33717175;33912179;33968037;33981976;34087483;34509645;34932366;35051231;35494241;35580925;35786744;36010968;36215666;36241641;39894887;7608176;7624799;8681945;8723348;8769125;9094719;9113989;9144573;9211928;9286278;9295334;9367159;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063", "class_list": "", "function": "Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy., [RefSeq, PubMed]; Phosphorylates PtdIns and PtdIns4P with a preference for PtdIns (PubMed:10805725, PubMed:11533253, PubMed:9830063). Does not phosphorylate PtdIns(4,5)P2 (PubMed:9830063). May be involved in EGF and PDGF signaling cascades (PubMed:10805725)., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [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": 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": 32, "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": "O95666;Q5SW99", "ec_number_list": "2.7.1.153;2.7.1.137;2.7.1.154;2.7.11.1", "go_molecular_function": "GO:0005524 ATP binding;GO:0035091 phosphatidylinositol binding;GO:0016303 1-phosphatidylinositol-3-kinase activity;GO:0035005 1-phosphatidylinositol-4-phosphate 3-kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process;GO:0016477 cell migration;GO:0048015 phosphatidylinositol-mediated signaling;GO:0043491 phosphatidylinositol 3-kinase/protein kinase B signal transduction", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "O00750-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P17813-1", "uniprot_id": "EGLN_HUMAN", "mass": 70578.0, "length": 658, "protein_name": "Endoglin", "gene_name": "ENG", "organism": "Human", "refseq_name": "endoglin isoform 3", "refseq_ac": "NP_001265067", "gene_names_uniprotkb": "ENG; END", "gene_names_refseq": "END; ENG; HHT1; ORW1", "protein_names_uniprotkb": "Endoglin", "protein_names_refseq": "CD105 antigen; endoglin isoform 3; soluble endoglin", "tax_id": 9606, "disease": "renal fibrosis (Disease Ontology:DOID:0050855); arteriovenous malformations of the brain (Disease Ontology:DOID:0060688); developmental cardiac valvular defect (Disease Ontology:DOID:0080633); prostate cancer (Disease Ontology:DOID:10283); lymphoid leukemia (Disease Ontology:DOID:1037); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); intracranial aneurysm (Disease Ontology:DOID:10941); arteriovenous malformation (Disease Ontology:DOID:11294); secondary hyperparathyroidism (Disease Ontology:DOID:12466); hereditary hemorrhagic telangiectasia (Disease Ontology:DOID:1270); cholestasis (Disease Ontology:DOID:13580); breast cancer (Disease Ontology:DOID:1612); coronary artery disease (Disease Ontology:DOID:3393); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); diabetic retinopathy (Disease Ontology:DOID:8947); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:2022)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "10.1038/emboj.2013.79;10545596;10625079;10982033;11237011;1326540;15024723;15712270;16525724;16752392;16785228;1692830;16982625;17540773;19004009;19159218;20042635;20414677;21737454;22347366;23300529;23584533;25502872;25576301;25645385;25892735;26992070;27862975;28228285;28467828;28564608;28832583;29242379;29314611;29557506;29632711;29769354;29786170;30429286;30459171;30626607;31154438;31844290;31848261;32157095;32350084;32387766;32502341;32938616;32983136;33043033;33392160;33592498;33717175;34078123;34932366;35051231;35154160;36215666;36241641;37074911;37938771;38272329;38272447;38355093;38665916;7894484;8370410;9157574;9245986;9554745", "class_list": "", "function": "Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele., [RefSeq, PubMed]; Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families., [RefSeq, PubMed]; Soluble Endoglin and Syndecan-1 levels predicts the clinical outcome in COVID-19 patients., [RefSeq, PubMed]; This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]., [RefSeq]; Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (By similarity). May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors (PubMed:1692830). Acts as a TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors (PubMed:21737454, PubMed:22347366, PubMed:23300529, PubMed:8370410). Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (PubMed:21737454, PubMed:22347366, PubMed:23300529)., [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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "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": 2, "reported_phosphosites": 8, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 6, "disease_count": 21, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q14248;Q14926;Q5T9C0", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0015026 coreceptor activity;GO:0030546 signaling receptor activator activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0043235 receptor complex", "go_biological_process": "GO:0017015 regulation of transforming growth factor beta receptor signaling pathway;GO:0003208 cardiac ventricle morphogenesis;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001570 vasculogenesis;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "P17813-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NZM5-1", "uniprot_id": "NOP53_HUMAN", "mass": 54389.0, "length": 478, "protein_name": "Ribosome biogenesis protein NOP53", "gene_name": "NOP53", "organism": "Human", "refseq_name": "ribosome biogenesis protein NOP53", "refseq_ac": "NP_056525", "gene_names_uniprotkb": "NOP53; GLTSCR2; GLT; PICT1", "gene_names_refseq": "GLTSCR2; NOP53; PICT-1; PICT1", "protein_names_uniprotkb": "Ribosome biogenesis protein NOP53; Glioma tumor suppressor candidate region gene 2 protein; PICT-1; Protein interacting with carboxyl terminus 1; p60", "protein_names_refseq": "glioma tumor suppressor candidate region gene 2 protein; p60; protein interacting with carboxyl terminus 1; ribosome biogenesis protein NOP53", "tax_id": 9606, "disease": "", "pathway": " (hsa:29997)", "pathway_count": 1, "publication_count": 86, "publication_id_list": "10196275;10708517;11237011;12429849;15355975;16971513;17657248;18669648;20042497;20068231;21167305;21741933;22292050;22522597;23186163;23481700;23555621;24120868;24556985;24714562;24735870;24923447;25576301;25818168;25956029;26154972;26375851;26811146;26903295;26992070;27323397;27600516;27729611;27824081;27829214;27846572;27862975;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29786170;30315122;30524438;31154438;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34166715;34171305;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36284347;36403484;37217939", "class_list": "", "function": "MTR4 adaptor PICT1 functions in two distinct steps during pre-rRNA processing., [RefSeq, PubMed]; Nucleolar protein which is involved in the integration of the 5S RNP into the ribosomal large subunit during ribosome biogenesis (PubMed:24120868). In ribosome biogenesis, may also play a role in rRNA transcription (PubMed:27729611). Also functions as a nucleolar sensor that regulates the activation of p53/TP53 in response to ribosome biogenesis perturbation, DNA damage and other stress conditions (PubMed:21741933, PubMed:24120868, PubMed:27829214). DNA damage or perturbation of ribosome biogenesis disrupt the interaction between NOP53 and RPL11 allowing RPL11 transport to the nucleoplasm where it can inhibit MDM2 and allow p53/TP53 activation (PubMed:24120868, PubMed:27829214). It may also positively regulate the function of p53/TP53 in cell cycle arrest and apoptosis through direct interaction, preventing its MDM2-dependent ubiquitin-mediated proteasomal degradation (PubMed:22522597). Originally identified as a tumor suppressor, it may also play a role in cell proliferation and apoptosis by positively regulating the stability of PTEN, thereby antagonizing the PI3K-AKT/PKB signaling pathway (PubMed:15355975, PubMed:16971513, PubMed:27729611). May also inhibit cell proliferation and increase apoptosis through its interaction with NF2 (PubMed:21167305). May negatively regulate NPM1 by regulating its nucleoplasmic localization, oligomerization and ubiquitin-mediated proteasomal degradation (PubMed:25818168). Thereby, may prevent NPM1 interaction with MYC and negatively regulate transcription mediated by the MYC-NPM1 complex (PubMed:25956029). May also regulate cellular aerobic respiration (PubMed:24556985). In the cellular response to viral infection, may play a role in the attenuation of interferon-beta through the inhibition of RIGI (PubMed:27824081)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PICT1 is critical for regulating the Rps27a-Mdm2-p53 pathway by microtubule polymerization inhibitor against cervical cancer., [RefSeq, PubMed]; Results suggest that the induction of PTEN-modulated apoptosis is one of the putative mechanisms of tumor suppressive activity by GLTSCR2, [RefSeq, PubMed]; These results suggest that PICT-1 plays a role in phosphatidylinositol 3,4,5-trisphosphate signals through controlling PTEN protein stability., [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": 10, "reported_mutagensis": 4, "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": "Q9BTC6;Q9HAX6;Q9NPP1;Q9NPR4;Q9UFI2", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0002039 p53 binding;GO:0008097 5S rRNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0001650 fibrillar center", "go_biological_process": "GO:1902570 protein localization to nucleolus;GO:1903006 positive regulation of protein K63-linked deubiquitination;GO:1990173 protein localization to nucleoplasm;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9NZM5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61020-1", "uniprot_id": "RAB5B_HUMAN", "mass": 23707.0, "length": 215, "protein_name": "Ras-related protein Rab-5B", "gene_name": "RAB5B", "organism": "Human", "refseq_name": "ras-related protein Rab-5B isoform 1", "refseq_ac": "NP_001238965", "gene_names_uniprotkb": "RAB5B", "gene_names_refseq": "RAB5B", "protein_names_uniprotkb": "Ras-related protein Rab-5B; 3.6.5.2", "protein_names_refseq": "ras-related protein Rab-5B isoform 1; ras-related protein Rab-5B", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); carcinoma (Disease Ontology:DOID:305); kidney disease (Disease Ontology:DOID:557)", "pathway": " (hsa:5869); (R-HSA-6798695); (R-HSA-8854214); (R-HSA-8856828); (R-HSA-8873719); (R-HSA-8876198); (R-HSA-9820960)", "pathway_count": 7, "publication_count": 414, "publication_id_list": "10202141;10403367;10491193;10535736;10542231;10559856;10559861;10559924;10625686;10766823;10818110;10990452;11038176;11082044;11141079;11179213;11231140;11237011;11239472;11389151;11447212;11470803;11477410;11516400;11516654;11517213;11532990;11577110;11675392;11689439;11703925;11733506;11746448;11784320;11877457;11877461;11889126;11917121;12057195;12058051;12213833;12221131;12244319;12364329;12427552;12447393;12475894;12684051;12847086;12944476;12952949;12972505;14555962;14581451;14617351;14622578;14622579;15096524;15138286;1516130;15247254;15252009;15260957;15318165;15339664;15388334;1541686;15502812;15502813;15528189;15561770;15649145;15692570;15703209;15802264;15878329;15895077;15914536;15916959;15958533;16055087;16086013;16103228;16207721;16215232;16326391;16373702;16395330;16401880;16410077;1648736;16516836;16525024;16525121;16571673;16641372;16707488;16754960;16798879;16880209;16880396;16903783;16950109;17018281;17035995;17043139;17081065;17114793;17132146;17158794;17189207;17208202;17239822;17287728;17411337;17488286;17494869;17512409;17540576;17562788;17574030;17609109;17646400;17658474;17671165;17678623;17681954;17762867;17765681;17901050;17978091;18076383;18093523;18094055;18199687;18319245;18354496;18367545;18388313;1845915;18466115;18477474;1847920;18532927;18559336;18585354;18664496;18701652;18779367;18790740;18804435;18981233;1900457;19092055;19109890;19287005;19296720;19345684;19403694;19458185;19490898;19536138;19575674;19603039;19620288;19656848;19696796;19713939;19725050;19729655;19745841;19776351;19809571;20008558;20033059;20059951;20095038;20116244;20154091;20159109;20159556;20211604;20231386;20305638;20308558;20363736;20404108;20428113;20434987;20448150;20592283;20797862;20826345;20851765;20937701;20946875;21041651;2115402;21183348;21187289;21187331;21216617;21273506;21278753;21316588;21330364;21383079;21421921;21445324;21458671;21482805;21499258;21532587;21554507;21586568;21613550;21683469;21706022;21718402;21776405;21779028;21841790;21883765;21927000;21927001;21951725;21962517;22013193;22065758;22072793;22099461;22171327;22219378;22233676;22365832;22433857;22484487;22505844;22511774;22581368;22595670;22613832;22622570;22648168;22653444;22694141;22705394;22762500;22795129;22815487;22854040;22863004;22908308;22983554;23019362;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23297414;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23536704;23562278;23645161;23650620;23678941;23684622;23713133;23719902;23823722;23839779;23861397;23891661;24023390;24130457;24186068;24296415;24581490;24644286;24694596;24719330;24789820;24891604;24917561;24966051;24967941;25074980;25107275;25303366;25341920;25343031;25472813;25502872;25605758;25648148;25713415;25892735;25925668;26042225;26055712;26177209;26245486;26403691;26434594;26538022;26925400;26936971;26969162;26992070;27041585;27044746;27103185;27246931;27329675;27452731;27543614;27600516;28467828;28510447;28514659;28832583;28834231;28871256;29125462;29242379;29314611;29393594;29427996;29557506;29632711;29769354;29786170;30524438;31844290;32157095;32350084;32357974;32502341;32938616;32974215;32983136;33043033;33091337;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34357683;34433824;34561969;34932366;35051231;35121658;35154160;35251023;35318648;35580925;36215666;36241641;36423778;36581221;37882757;6146630;7688123;7877694;7911226;7957092;7991565;8144603;8164745;8349690;8375503;8408203;8513495;8522602;8524399;8552632;8631982;8662963;8692836;8836150;8863739;9020086;9020161;9030515;9092476;9100026;9136770;9323142;9427626;9428629;9590177;9635431;9733780;9736607", "class_list": "", "function": "A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C., [RefSeq, PubMed]; Hsa_circRNA_BECN1 acts as a ceRNA to promote polycystic ovary syndrome progression by sponging the miR-619-5p/Rab5b axis., [RefSeq, PubMed]; Loci on chromosome 12q13.2 encompassing ERBB3, PA2G4 and RAB5B are associated with polycystic ovary syndrome., [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 (PubMed:16086013, PubMed:17562788). Involved in early endocytic trafficking (PubMed:16086013, PubMed:17562788). Required for EEA1 recruitment to early endosomes (PubMed:16086013, PubMed:17562788). Required for EGF and transferrin endocytosis and trafficking through early endosomes (PubMed:16086013, PubMed:17562788)., [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": 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": 4, "reported_glycation": 0, "reported_snv": 0, "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": "A8K982;B4DKD7;P35239;P35277;Q6PIK9;Q86TH0;Q8IXL2", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;2.7.11.1;3.1.3.-;3.6.1.5;2.7.10.1;3.4.24.11;3.1.3.48;5.6.1.6;3.4.11.2;2.4.1.-;2.4.1.275;2.4.1.22;2.4.1.38;2.4.1.90;2.3.2.27;3.6.1.-;1.2.1.5;1.2.1.28;1.2.1.7;1.2.1.48;2.5.1.60;3.6.4.-;3.6.5.4;3.1.3.86;3.1.3.56;3.1.3.36;7.6.2.-;3.6.-.-;3.6.1.15;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0030742 GTP-dependent protein binding;GO:0019003 GDP binding", "go_cellular_component": "GO:0005768 endosome;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006897 endocytosis;GO:0016197 endosomal transport;GO:0019882 antigen processing and presentation;GO:0048227 plasma membrane to endosome transport", "synthesized_glycan_count": 0, "hit_score": 41.7, "record_id": "P61020-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PJT7-1", "uniprot_id": "ZC3HE_HUMAN", "mass": 82876.0, "length": 736, "protein_name": "Zinc finger CCCH domain-containing protein 14", "gene_name": "ZC3H14", "organism": "Human", "refseq_name": "zinc finger CCCH domain-containing protein 14 isoform 5", "refseq_ac": "NP_001153575", "gene_names_uniprotkb": "ZC3H14", "gene_names_refseq": "MRT56; MSUT-2; NY-REN-37; SUT2; UKp68; ZC3H14", "protein_names_uniprotkb": "Zinc finger CCCH domain-containing protein 14; MSUT-2; Mammalian suppressor of tau pathology-2; Renal carcinoma antigen NY-REN-37", "protein_names_refseq": "mammalian suppressor of tau pathology-2; nuclear protein UKp68; renal carcinoma antigen NY-REN-37; zinc finger CCCH domain-containing protein 14 isoform 5; zinc finger CCCH domain-containing protein 14", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder (Disease Ontology:DOID:0060308); autosomal recessive intellectual developmental disorder 56 (Disease Ontology:DOID:0081217); intellectual disability (Disease Ontology:DOID:1059)", "pathway": " (hsa:79882)", "pathway_count": 1, "publication_count": 114, "publication_id_list": "10508479;11237011;17081983;17525332;17630287;18077418;18212344;18452278;18669648;18691976;18707149;19273536;19303045;19413330;19415658;19608861;19651622;19664995;19690332;19691289;20058876;20068230;20068231;20166139;20658987;21406692;21734151;23186163;23301498;24275569;24671764;25218447;25418920;25576301;25645385;25755297;25772364;25880248;26154972;26811146;26992070;27563065;27862975;27871484;28657654;28904123;29237092;29249144;29351928;29437277;29493099;29557506;30059200;30315122;30371740;30379171;30620550;30779550;31154438;31217245;31373491;31492838;31637018;31844290;31848261;32119511;32157095;32357974;32387766;32488085;32574038;32897882;32938616;32981422;32983136;33214551;33298915;33465208;33537174;33633747;33691108;33912179;33968037;34019948;34087483;34171305;34405274;34509645;34561969;34725712;34846842;35051231;35132862;35138101;35254053;35289036;35318648;35513511;35580925;35705054;36010968;36241641;37340703;37541260;37938771;38665916;39302247;39461343;39531497;39534244;40136647;40307207;40596516;40914422", "class_list": "", "function": "AlphaScreen Identifies MSUT2 Inhibitors for Tauopathy-Targeting Therapeutic Discovery., [RefSeq, PubMed]; Multiple transcripts encoding several ZC3H14 isoforms exist in vivo, [RefSeq, PubMed]; New neuroprotective strategies targeting MSUT-2 that may be effective in modulating tau neurotoxicity in human tauopathy disorders. Review article, [RefSeq, PubMed]; RNA-binding protein involved in the biogenesis of circular RNAs (circRNAs), which are produced by back-splicing circularization of pre-mRNAs. Acts by binding to both exon-intron boundary and 3'-UTR of pre-mRNAs to promote circRNA biogenesis through dimerization and the association with the spliceosome., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Study suggests that ZC3H14 functions as a novel tumor suppressor and is a candidate prognostic biomarker for hepatocellular carcinoma patients, [RefSeq, PubMed]; The protein encoded by this gene is a poly(A)-binding protein that can affect gene expression and poly(A) tail length. The encoded protein may influence mRNA stability, nuclear export, and translation. [provided by RefSeq, May 2016]., [RefSeq]; These proteins are members of an evolutionarily conserved family of poly(A) RNA binding proteins, [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": 35, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 35, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 35, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 35, "binding_glycan_count": 0, "secondary_ac_list": "A8MY46;B4DXU8;B4DZW7;B4E2H4;G3V5R4;Q6MZU4;Q6PJ32;Q6PUI6;Q6PUI8;Q86TQ5;Q86TW0;Q86TW1;Q8NCT6;Q8NCZ3;Q8TDE2;Q9HAC9;Q9Y5A0", "ec_number_list": "", "go_molecular_function": "GO:0036002 pre-mRNA binding;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0003730 mRNA 3'-UTR binding;GO:0008143 poly(A) binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0032839 dendrite cytoplasm;GO:1904115 axon cytoplasm", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0048255 mRNA stabilization;GO:0043488 regulation of mRNA stability;GO:0160091 spliceosome-depend formation of circular RNA", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "Q6PJT7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96EQ8-1", "uniprot_id": "RN125_HUMAN", "mass": 26454.0, "length": 232, "protein_name": "E3 ubiquitin-protein ligase RNF125", "gene_name": "RNF125", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF125 isoform 1", "refseq_ac": "NP_060301", "gene_names_uniprotkb": "RNF125", "gene_names_refseq": "RNF125; TNORS; TRAC-1; TRAC1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF125; 2.3.2.27; RING finger protein 125; T-cell RING activation protein 1; TRAC-1", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF125 isoform 1; T-cell ring protein identified in activation screen; ring finger protein 125, E3 ubiquitin protein ligase", "tax_id": 9606, "disease": "Tenorio syndrome (MONDO:MONDO:0014553)", "pathway": " (hsa:54941); (R-HSA-936440)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "11237011;12974981;15843525;16699525;16715065;17460044;17643463;17990982;17991829;18057259;18200010;19125153;19881509;19893624;20304918;20434986;25196541;25591766;25880248;26027934;26202983;26471729;26811146;26992070;27411375;28063628;28611292;28832583;29176319;29242379;29632046;30429286;31827077;32357974;32488085;32938616;35051231;35580925;36344734;37142680", "class_list": "", "function": "E3 Ubiquitin Ligase RNF125 Suppresses Immune Escape in Head and Neck Squamous Cell Carcinoma by Regulating PD-L1 Expression., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins, such as RIGI, MAVS/IPS1, IFIH1/MDA5, JAK1 and p53/TP53 (PubMed:15843525, PubMed:17460044, PubMed:17643463, PubMed:25591766, PubMed:26027934, PubMed:26471729, PubMed:27411375). Acts as a negative regulator of type I interferon production by mediating ubiquitination of RIGI at 'Lys-181', leading to RIGI degradation (PubMed:17460044, PubMed:26471729). Mediates ubiquitination and subsequent degradation of p53/TP53 (PubMed:25591766). Mediates ubiquitination and subsequent degradation of JAK1 (PubMed:26027934). Acts as a positive regulator of T-cell activation (PubMed:15843525)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; G3BP1 inhibits RNA virus replication by positively regulating RIG-I-mediated cellular antiviral response. Publication Status: Online-Only, [RefSeq, PubMed]; High RNF125 expression is related with aggressive characteristics and unfavorable prognosis of GBC patients; RNF125 promotes the invasion and metastasis of human GBCs via activating the TGF-beta1-SMAD3-ID1 signaling pathway., [RefSeq, PubMed]; RNF125 attenuates hepatocellular carcinoma progression by downregulating SRSF1-ERK pathway., [RefSeq, PubMed]; These results suggest that RNF125/TRAC-1 could function to recruit host factor(s) controlling HIV-1 transcription to the ubiquitin-proteasome pathway., [RefSeq, PubMed]; This gene encodes a novel E3 ubiquitin ligase that contains a RING finger domain in the N-terminus and three zinc-binding and one ubiquitin-interacting motif in the C-terminus. As a result of myristoylation, this protein associates with membranes and is primarily localized to intracellular membrane systems. The encoded protein may function as a positive regulator in the T-cell receptor signaling pathway. [provided by RefSeq, Mar 2012]., [RefSeq]; This study shows that RNF125 activates Interleukin-36 receptor signaling and contributes to its turnover, [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": 11, "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": "Q9NX39", "ec_number_list": "2.3.2.23;3.6.4.13;2.3.2.24;2.3.2.27", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0031624 ubiquitin conjugating enzyme binding;GO:0002039 p53 binding", "go_cellular_component": "GO:0034098 VCP-NPL4-UFD1 AAA ATPase complex;GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0043231 intracellular membrane-bounded organelle", "go_biological_process": "GO:0002250 adaptive immune response;GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0039536 negative regulation of RIG-I signaling pathway;GO:0032480 negative regulation of type I interferon production", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q96EQ8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P24530-1", "uniprot_id": "EDNRB_HUMAN", "mass": 49644.0, "length": 442, "protein_name": "Endothelin receptor type B", "gene_name": "EDNRB", "organism": "Human", "refseq_name": "endothelin receptor type B isoform 1 precursor", "refseq_ac": "NP_000106", "gene_names_uniprotkb": "EDNRB; ETRB", "gene_names_refseq": "ABCDS; EDNRB; ET-BR; ET-B; ETB1; ETBR; ETB; ETRB; HSCR2; HSCR; WS4A", "protein_names_uniprotkb": "Endothelin receptor type B; ET-BR; ET-B; Endothelin receptor non-selective type", "protein_names_refseq": "Hirschsprung disease 2; endothelin receptor non-selective type; endothelin receptor subtype B1; endothelin receptor type B isoform 1 precursor", "tax_id": 9606, "disease": "ABCD syndrome (Disease Ontology:DOID:0050600); lymphoproliferative syndrome (Disease Ontology:DOID:0060704); Waardenburg syndrome type 4A (Disease Ontology:DOID:0110953); sensorineural hearing loss (Disease Ontology:DOID:10003); Hirschsprung's disease (Disease Ontology:DOID:10487); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); anogenital venereal wart (Disease Ontology:DOID:11168); megacolon (Disease Ontology:DOID:11372); hepatitis C (Disease Ontology:DOID:1883); asthma (Disease Ontology:DOID:2841); HTLV-1-associated myelopathy/tropical spastic paraparesis (Disease Ontology:DOID:321); tuberculosis (Disease Ontology:DOID:399); histiocytoma (Disease Ontology:DOID:4231); myocardial infarction (Disease Ontology:DOID:5844); lymphopenia (Disease Ontology:DOID:614); pulmonary hypertension (Disease Ontology:DOID:6432); hepatopulmonary syndrome (Disease Ontology:DOID:900); Waardenburg syndrome (Disease Ontology:DOID:9258); type 2 diabetes mellitus (Disease Ontology:DOID:9352); Hirschsprung disease, susceptibility to, 1 (MONDO:MONDO:0007723); Hirschsprung disease, susceptibility to, 2 (MONDO:MONDO:0010833)", "pathway": " (hsa:1910); (R-HSA-375276); (R-HSA-416476); (R-HSA-9856649)", "pathway_count": 4, "publication_count": 209, "publication_id_list": "10072757;10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567402;10567430;10604470;10611221;10655586;10673502;10727532;10854085;10861009;10874640;10899166;11015615;11027551;11237011;11322507;11385580;11457843;11471546;11562423;11683476;11742120;11753430;11773063;11840323;11891324;11891690;11912130;11930005;12120503;12189494;12427552;12540846;12628594;12719537;1280419;1282938;1291713;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;14636059;14975237;15118077;15139756;15226305;15507434;15539556;1567413;15947423;15951850;16014379;16034366;16182515;16268778;16339447;1648908;1655761;16754659;16822840;16923326;1698554;1710450;1710578;1713452;1719979;1722333;1748288;17623675;18127230;18434541;1847994;18515384;18577758;18644867;18936096;1905813;19524539;19608861;19901323;20460180;21486943;21507037;21965087;22647378;23159739;23190890;23207919;23446738;23690594;24906252;25248477;25595898;25645385;2649896;27128622;27496565;27600516;28236341;28394346;2841328;28904123;29295999;29557506;30429286;30804224;3086311;31844290;31848261;3202875;32157095;32387766;32636443;32934717;3366244;33744299;33968037;34140478;35051231;35154160;3525564;36284347;37770430;3856870;39174539;39414992;5338216;6274691;6281660;6373251;6589611;7057924;7524088;7536888;7590751;7592910;7592911;7624359;7797512;7905839;7937899;7958932;8001158;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8336698;8373420;8381365;8383682;8395824;8429023;8440682;8463333;8503909;8615752;8630503;8634719;8664309;8666380;8702752;873923;8810293;8823230;8852659;8852660;9171878;9199364;9261180;9284755;9305846;9353119;9359036;9440696;9521323;9530155;9560246;9593744;9607765;9676189;9685625;9722565;9760192;9760196;9770463;9792798;9832121;9851594;9973413", "class_list": "", "function": "Endothelin 3/EDNRB signaling induces thermogenic differentiation of white adipose tissue. Publication Status: Online-Only, [RefSeq, PubMed]; Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system., [UniProtKB, PubMed]; Structure of endothelin ETB receptor-Gi complex in a conformation stabilized by unique NPxxL motif. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 13, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "prognostic", "glycan_count": 0, "disease_count": 22, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2A2Z8;A8K3T4;O15343;Q59GB1;Q5W0G9;Q8NHM6;Q8NHM7;Q8NHM8;Q8NHM9;Q9UD23;Q9UQK3", "ec_number_list": "", "go_molecular_function": "GO:0004962 endothelin receptor activity;GO:0017046 peptide hormone binding;GO:0031702 type 1 angiotensin receptor binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031965 nuclear membrane", "go_biological_process": "GO:0014043 negative regulation of neuron maturation;GO:0031620 regulation of fever generation;GO:0035645 enteric smooth muscle cell differentiation;GO:0048484 enteric nervous system development;GO:0050678 regulation of epithelial cell proliferation", "synthesized_glycan_count": 0, "hit_score": 21.0, "record_id": "P24530-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08729-1", "uniprot_id": "K2C7_HUMAN", "mass": 51386.0, "length": 469, "protein_name": "Keratin, type II cytoskeletal 7", "gene_name": "KRT7", "organism": "Human", "refseq_name": "keratin, type II cytoskeletal 7", "refseq_ac": "NP_005547", "gene_names_uniprotkb": "KRT7; SCL", "gene_names_refseq": "CK7; K2C7; K7; KRT7; SCL", "protein_names_uniprotkb": "Keratin, type II cytoskeletal 7; CK-7; Cytokeratin-7; K7; Keratin-7; Sarcolectin; Type-II keratin Kb7", "protein_names_refseq": "CK-7; cytokeratin 7; keratin 7, type II; keratin, 55K type II cytoskeletal; keratin, simple epithelial type I, K7; keratin, type II cytoskeletal 7; sarcolectin; type II mesothelial keratin K7; type-II keratin Kb7", "tax_id": 9606, "disease": "pancreatic ductal carcinoma (Disease Ontology:DOID:3587); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); cholangiocarcinoma (Disease Ontology:DOID:4947)", "pathway": " (hsa:3855); (R-HSA-6805567); (R-HSA-6809371); (R-HSA-9925563)", "pathway_count": 4, "publication_count": 111, "publication_id_list": "10.1101/2023.09.13.557529;10066784;10196183;10231017;10411887;10492017;10588656;10771479;11169732;11350120;11380615;11590230;11840567;12072504;12359226;12902340;15033990;15337775;15373777;15797384;15803139;16061697;16382671;16639001;1691188;1694855;17081983;1714783;17287340;17389395;17515931;17521629;17562024;17596512;17924679;18083107;18212344;18452278;18669648;18691976;18843291;19007248;19190773;19194479;19608861;20112406;20179351;20657595;20667819;20940292;21149639;21439340;21654840;21997417;22121020;23186163;23481192;23576270;23629652;2414304;2415537;2459129;25114211;25208914;25218447;25926655;26237509;26390218;26853435;26992070;27397612;29331515;29393594;29557506;29786170;30192525;30524438;30779550;31844290;32157095;32161166;32387766;32488085;32897882;32938616;33123756;33214551;33298915;33912179;33968037;34019948;34171305;35051231;35083852;35289036;35580925;36096829;36215666;36324070;36564440;37023314;37217939;39078783;39534244;40596516;7543090;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "A triple-classification for differentiating renal oncocytoma from renal cell carcinoma subtypes and CK7 expression evaluation: a radiomics analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Aberrant cytokeratin 7 expression by hepatocytes can predict the ductopenia grade in primary biliary cholangitis. Publication Status: Online-Only, [RefSeq, PubMed]; Blocks interferon-dependent interphase and stimulates DNA synthesis in cells. Involved in the translational regulation of the human papillomavirus type 16 E7 mRNA (HPV16 E7)., [UniProtKB, PubMed, PubMed]; Colonocyte keratin 7 is expressed de novo in inflammatory bowel diseases and associated with pathological changes and drug-resistance. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of cytokeratin 7/20 and Ki67 in Helicobacter pylori-associated gastritis and intestinal metaplasia. Publication Status: Online-Only, [RefSeq, PubMed]; Role of the KRT7 Biomarker in Immune Infiltration and Paclitaxel Resistance in Ovarian., [RefSeq, PubMed]; The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the simple epithelia lining the cavities of the internal organs and in the gland ducts and blood vessels. The genes encoding the type II cytokeratins are clustered in a region of chromosome 12q12-q13. Alternative splicing may result in several transcript variants; however, not all variants have been fully 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": 1, "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": 24, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "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": "Q92676;Q9BUD8;Q9Y3R7", "ec_number_list": "", "go_molecular_function": "GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0005882 intermediate filament", "go_biological_process": "GO:0031424 keratinization;GO:0045109 intermediate filament organization", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "P08729-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N1N4-1", "uniprot_id": "K2C78_HUMAN", "mass": 56866.0, "length": 520, "protein_name": "Keratin, type II cytoskeletal 78", "gene_name": "KRT78", "organism": "Human", "refseq_name": "keratin, type II cytoskeletal 78 isoform 2", "refseq_ac": "NP_001287743", "gene_names_uniprotkb": "KRT78; K5B; KB40", "gene_names_refseq": "CK-78; K5B; K78; KRT78; Kb40", "protein_names_uniprotkb": "Keratin, type II cytoskeletal 78; CK-78; Cytokeratin-78; K78; Keratin-5b; Keratin-78; Type-II keratin Kb40", "protein_names_refseq": "cytokeratin-78; keratin 78, type II; keratin, type II cytoskeletal 78 isoform 2; keratin, type II cytoskeletal 78; keratin-5b; type-II keratin Kb40", "tax_id": 9606, "disease": "", "pathway": " (hsa:196374); (R-HSA-6805567); (R-HSA-6809371); (R-HSA-9725554)", "pathway_count": 4, "publication_count": 82, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11237011;11350120;11380615;11590230;11683385;12067728;12624109;12902340;15033990;15140226;15234001;15337775;15373777;15556625;15675955;15737194;15780751;15797384;15803139;16061697;16297201;16382671;16639001;1691188;1694855;1714783;17330888;17515931;17521629;17562024;17596512;18843291;19190773;19194479;19924134;20068231;20179351;20657595;20667819;20940292;21439340;21654840;21997417;22735594;23283814;23481192;23629652;2414304;24794495;25208914;25926655;26340985;26375851;26390218;27452731;29314611;29632711;29786170;30905808;31399284;31844290;32938616;33912179;33968037;34019948;35051231;35580925;37217939;38665916;41018975;7543090;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "K78 is strongly expressed in the basal and parabasal cell layers with decreasing intensity in the lower suprabasal cells of keratinising and non-keratinising squamous epithelia and keratinocyte cultures., [RefSeq, PubMed]; This gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasmic network of 10 to 12 nm wide intermediate filaments and creating a scaffold that gives cells the ability to withstand mechanical and non-mechanical stresses. The genes of the type II keratin family are located as a gene cluster at 12p13.13. Four pseudogenes of this gene family 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": 1, "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": "A8K4D6;Q5HYM7;Q7RTT2", "ec_number_list": "", "go_molecular_function": "GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0045095 keratin filament;GO:0005882 intermediate filament", "go_biological_process": "GO:0031424 keratinization;GO:0045109 intermediate filament organization", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q8N1N4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P98077-1", "uniprot_id": "SHC2_HUMAN", "mass": 61916.0, "length": 582, "protein_name": "SHC-transforming protein 2", "gene_name": "SHC2", "organism": "Human", "refseq_name": "SHC-transforming protein 2 isoform 1", "refseq_ac": "NP_036567", "gene_names_uniprotkb": "SHC2; SCK; SHCB", "gene_names_refseq": "SCK; SHC2; SHCB; SLI", "protein_names_uniprotkb": "SHC-transforming protein 2; Protein Sck; SH2 domain protein C2; SHC-transforming protein B; Src homology 2 domain-containing-transforming protein C2", "protein_names_refseq": "SH2 domain protein C2; SHC (Src homology 2 domain containing) transforming protein 2; SHC-transforming protein 2 isoform 1; SHC-transforming protein 2; SHC-transforming protein B; neuronal Shc adaptor homolog; protein Sck; src homology 2 domain-containing-transforming protein C2", "tax_id": 9606, "disease": "", "pathway": " (hsa:25759); (R-HSA-167044); (R-HSA-4420097); (R-HSA-5673001)", "pathway_count": 4, "publication_count": 123, "publication_id_list": "10037737;10075701;10207622;10395673;10508167;10677529;10692392;10744763;10749680;10869344;11007481;11027663;11090077;11136978;11237011;11278486;11313946;11546808;11695992;11696015;11702783;12006576;12032311;12094235;12121613;12134158;12214271;12215529;12391143;12464388;12660731;12810700;12820653;14506247;14707138;14724572;15026417;15247219;15308668;15356145;1545823;15546878;15688067;15695828;15851471;15962004;16336962;16627759;16684964;16760434;16966330;17030947;1716764;17199126;17237347;17293873;17686471;17998941;18775330;1898771;19230644;19267251;19279408;19920141;20478380;20658524;21102635;21372320;21445309;21658278;21779497;21779505;21993244;22327215;22569528;22589270;22689825;22750304;23103841;23216836;23303910;23443682;23575685;24170347;24897931;24937142;25219551;25576301;25613377;25781681;26085527;27846572;28778966;28832583;29242379;29557506;30429286;31135801;35051231;6148751;7509446;7527937;7809086;7935463;7972015;8052307;8394845;8493579;8617235;8665852;8710374;8760305;8810325;8939933;8986718;9099726;9182576;9393975;9398617;9472046;9507002;9604935;9927426", "class_list": "", "function": "Data show that copy number loss of SHC2 strongly indicates a causal link to multiple system atrophy. Publication Status: Online-Only, [RefSeq, PubMed]; SHC2 gene deletions underlie few, if any, cases of well-characterized multiple system atrophy in the US population., [RefSeq, PubMed]; Sck was identified as a novel molecule indispensable for CD95's activation of the PI3K and MAPK pathways and induction of cell cycle progression in pancreatic ductal adenocarcinoma., [RefSeq, PubMed]; Signaling adapter that couples activated growth factor receptors to signaling pathway in neurons. Involved in the signal transduction pathways of neurotrophin-activated Trk receptors in cortical neurons (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": 3, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "O60230;Q9NPL5;Q9UCX4", "ec_number_list": "", "go_molecular_function": "GO:0030971 receptor tyrosine kinase binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "P98077-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q01082-1", "uniprot_id": "SPTB2_HUMAN", "mass": 274609.0, "length": 2364, "protein_name": "Spectrin beta chain, non-erythrocytic 1", "gene_name": "SPTBN1", "organism": "Human", "refseq_name": "spectrin beta chain, non-erythrocytic 1 isoform 1", "refseq_ac": "NP_003119", "gene_names_uniprotkb": "SPTBN1; SPTB2", "gene_names_refseq": "DDISBA; ELF; HEL102; SPTB2; SPTBN1; betaSpII", "protein_names_uniprotkb": "Spectrin beta chain, non-erythrocytic 1; Beta-II spectrin; Fodrin beta chain; Spectrin, non-erythroid beta chain 1", "protein_names_refseq": "beta-G spectrin; beta-II spectrin; beta-fodrin; beta-spectrin 2; beta-spectrin II; beta-spectrin non-erythrocytic 1; embryonic liver beta-fodrin; epididymis luminal protein 102; fodrin beta chain; spectrin beta chain, brain 1; spectrin beta chain, non-erythrocytic 1 isoform 1; spectrin beta chain, non-erythrocytic 1; spectrin, non-erythroid beta chain 1", "tax_id": 9606, "disease": "spinocerebellar ataxia 5 (Disease Ontology:DOID:0050882); Beckwith-Wiedemann syndrome (Disease Ontology:DOID:5572); developmental delay, impaired speech, and behavioral abnormalities (MONDO:MONDO:0859178)", "pathway": " (hsa:6711); (R-HSA-373753); (R-HSA-375165); (R-HSA-445095); (R-HSA-5673001); (R-HSA-6807878); (R-HSA-9013420); (R-HSA-9013424); (R-HSA-9662360); (R-HSA-9662361); (R-HSA-9703465)", "pathway_count": 11, "publication_count": 433, "publication_id_list": "10.1101/2023.09.13.557529;10025409;10052452;10318838;10393930;10445031;10469654;10508167;10541305;10559959;10611248;10679020;10761932;10806113;10821263;10869344;10903204;10921873;11027663;11035033;11090077;11136978;11163272;11172815;11222639;11237011;11285137;11306556;11313946;11340081;11459829;11461920;11546808;11562357;11665863;11689559;11702783;11703931;11726511;11733557;11748249;12032311;12047556;12070132;12094235;12121613;12388752;12468433;12634853;12660326;12668668;12700044;12846735;12865409;14506247;14521508;14570703;14633607;14654841;14707138;14742712;15003515;15037235;15262991;1527002;15302935;15331416;15345747;15350535;15356145;1545823;15498859;15545998;15546878;15556869;15579503;15616190;15632110;15634346;15728195;15813748;15843475;15878873;15994232;16030262;16083285;1631136;16525419;16543952;16597699;16627759;16630808;16633337;16684964;16723730;16761019;1680566;16904324;16912714;16926190;16940185;17081983;17088250;1716764;17223356;17253781;17268528;17274799;17322306;17355222;17360540;17429068;17451557;17504809;17760859;17764812;17893108;17923684;17924679;17927562;17956946;17998941;18033240;18077418;18086915;18088087;18182008;18192505;18212344;18283113;18446792;18452278;18491316;18510355;18524849;18669648;18691976;18767875;18775330;18802091;18809720;1898771;1898986;18991276;19007248;19015319;19064640;19109418;19164740;19279408;19296914;19345670;19369195;19413330;19415658;19438505;19443634;19531498;1957170;19608861;19631211;19651622;19664994;19664995;19690332;19691289;19758564;19920141;20068230;20068231;20112406;20166139;20233749;20357002;20427317;20478380;20547754;20637885;21072051;21102635;21219331;21262971;21372320;21406692;21508312;21565175;21689688;21705501;21779497;21779505;21844168;21872626;21993244;22013193;22094269;22223895;22304919;22339630;22424782;22438257;22569528;22589270;22645359;22661428;22706990;22722860;22750304;23103841;23168613;23186163;23303910;23443682;23575685;23783831;23839779;24117850;24119662;24275569;24366607;24397554;24714562;24715725;24806965;24854988;24897931;24937142;25219551;25418920;25436559;25492864;25502872;25505266;25576301;25645385;25781681;25810538;25880248;26024233;26085527;26154972;26308771;26598620;26716518;26754738;26811146;26853435;26992070;27114449;27397612;27543614;27600516;27655845;27666490;27795560;27846572;27920218;28028030;28063628;2809592;28218747;28228285;28314751;28514659;28649982;28657654;28751768;28778966;28832583;28834231;28855257;28860189;28904123;29025582;29237092;29242379;29331515;29351928;29393594;29437277;29493099;29507660;29508533;29557506;29632046;29632711;29769354;29786170;29789417;29880609;30059200;30315122;30370255;30379171;30410026;30444036;30484775;30524438;30559310;30620550;30779550;30833945;31020640;31066629;31135801;31154438;31217245;31222486;31359998;31492838;31530632;31844290;31848261;31871319;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32574038;32737221;32897882;32938616;32938750;32983136;33091337;33123756;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34093574;34171305;34185709;34211107;34211179;34357683;34405274;34433824;34509645;34561969;34725712;34846842;34932366;35008409;35051231;35083852;35132862;35138101;35154160;35254053;35289036;35318648;35513511;35561310;35580925;36010968;36215666;36241641;36284347;37340703;37921259;37938771;38069214;38441922;38665916;38683846;38832923;38838015;39302247;39531497;39534244;40307207;40596516;6148751;7691276;7809086;7935463;7972015;7997267;8001155;8052307;8128252;8132710;8221884;8253837;8394845;8406479;8493579;8505331;8620540;8636227;8665852;8710374;8939933;8991093;9029102;9114004;9150144;9164454;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9604935;9671725;9687510;9751720;9778532;9798950;9817844;9918857;9927426;9990005", "class_list": "", "function": "Cardiomyocyte betaII spectrin plays a critical role in maintaining cardiac function by regulating mitochondrial respiratory function., [RefSeq, PubMed]; Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane. Plays a critical role in central nervous system development and function., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Identification of bone mineral density associated genes with shared genetic architectures across multiple tissues: Functional insights for EPDR1, PKDCC, and SPTBN1. Publication Status: Online-Only, [RefSeq, PubMed]; Postsynaptic beta1 spectrin maintains Na[+] channels at the neuromuscular junction., [RefSeq, PubMed]; SPTBN1 Mediates the Cytoplasmic Constraint of PTTG1, Impairing Its Oncogenic Activity in Human Seminoma. Publication Status: Online-Only, [RefSeq, PubMed]; Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Tumor cell SPTBN1 inhibits M2 polarization of macrophages by suppressing CXCL1 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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 34, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 34, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 34, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 57, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 68, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 35, "binding_glycan_count": 0, "secondary_ac_list": "B2RP63;O60837;Q16057;Q53R99;Q59ER3;Q8IX99", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003779 actin binding;GO:0005200 structural constituent of cytoskeleton;GO:0005516 calmodulin binding;GO:0005543 phospholipid binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007009 plasma membrane organization;GO:0072659 protein localization to plasma membrane;GO:0007417 central nervous system development;GO:0030036 actin cytoskeleton organization;GO:1903078 positive regulation of protein localization to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 47.2, "record_id": "Q01082-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P24534-1", "uniprot_id": "EF1B_HUMAN", "mass": 24764.0, "length": 225, "protein_name": "Elongation factor 1-beta", "gene_name": "EEF1B2", "organism": "Human", "refseq_name": "elongation factor 1-beta", "refseq_ac": "NP_001032752", "gene_names_uniprotkb": "EEF1B2; EEF1B; EF1B", "gene_names_refseq": "EEF1B1; EEF1B2; EEF1B; EF1B", "protein_names_uniprotkb": "Elongation factor 1-beta; EF-1-beta; eEF-1B alpha", "protein_names_refseq": "EF-1-beta; eEF-1B alpha; elongation factor 1-beta; eukaryotic translation elongation factor 1 beta 1", "tax_id": 9606, "disease": "childhood-onset dystonia with optic atrophy and basal ganglia abnormalities (Disease Ontology:DOID:0081419); Leber hereditary optic neuropathy with demyelinating disease of CNS (Disease Ontology:DOID:0111756); optic atrophy (Disease Ontology:DOID:5723)", "pathway": " (hsa:1933); (R-HSA-156842)", "pathway_count": 2, "publication_count": 91, "publication_id_list": "10368288;11237011;1286667;1286669;14654843;14729942;15302935;15345747;17081983;1710449;17287340;17487921;17693683;18212344;18318008;18452278;18491316;18669648;18691976;18767875;1886777;19369195;19413330;19415658;19608861;19615748;19651622;19664994;19664995;19690332;20058876;20068231;20166139;20230923;20964681;21406692;21654843;21740066;23186163;23555621;24275569;25502872;25645385;25802875;26154972;26375851;26992070;28218747;28467828;28510447;28855257;28904123;29314611;29393594;29437277;29557506;30315122;30379171;30410026;31217245;31222486;31844290;32119511;32157095;32161166;32350084;32488085;32502341;32983136;33141586;33214551;33298915;33392160;33633747;33912179;33936100;33968037;34019948;34357683;34420305;35138101;35154160;35251023;36215666;36241641;36284347;37938771;38665916;40914422;8547318;9677419", "class_list": "", "function": "Catalytic subunit of the guanine nucleotide exchange factor (GEF) (eEF1B subcomplex) of the eukaryotic elongation factor 1 complex (eEF1) (By similarity). Stimulates the exchange of GDP for GTP on elongation factor 1A (eEF1A), probably by displacing GDP from the nucleotide binding pocket in eEF1A (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Proteogenomics Integrating Novel Junction Peptide Identification Strategy Discovers Three Novel Protein Isoforms of Human NHSL1 and EEF1B2., [RefSeq, PubMed]; This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' UTR. [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": 19, "reported_mutagensis": 0, "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": "A8K795;Q6IBH9", "ec_number_list": "", "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity;GO:0003746 translation elongation factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005853 eukaryotic translation elongation factor 1 complex", "go_biological_process": "GO:0045471 response to ethanol;GO:0006414 translational elongation", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "P24534-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UI10-1", "uniprot_id": "EI2BD_HUMAN", "mass": 57557.0, "length": 523, "protein_name": "Translation initiation factor eIF2B subunit delta", "gene_name": "EIF2B4", "organism": "Human", "refseq_name": "translation initiation factor eIF2B subunit delta isoform 2", "refseq_ac": "NP_001029288", "gene_names_uniprotkb": "EIF2B4; EIF2BD", "gene_names_refseq": "EIF-2B; EIF2B4; EIF2Bdelta; EIF2B; VWM4", "protein_names_uniprotkb": "Translation initiation factor eIF2B subunit delta; eIF2B GDP-GTP exchange factor subunit delta", "protein_names_refseq": "eIF-2B GDP-GTP exchange factor subunit delta; eIF2B GDP-GTP exchange factor subunit delta; eukaryotic translation initiation factor 2B subunit 4 delta; eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa; translation initiation factor eIF-2B subunit delta; translation initiation factor eIF-2b delta subunit; translation initiation factor eIF2B subunit delta isoform 2; translation initiation factor eIF2B subunit delta", "tax_id": 9606, "disease": "leukoencephalopathy with vanishing white matter (Disease Ontology:DOID:0060868); leukoencephalopathy with vanishing white matter 4 (Disease Ontology:DOID:0070371)", "pathway": " (hsa:8890); (R-HSA-72731)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "10931946;11237011;11835386;12707859;15776425;18669648;18691976;19007248;19413330;19690332;19691289;20068231;22424782;22645359;23186163;23481700;24397554;24715725;2491852;25576301;25645385;25810538;25858979;25892735;26154972;26375851;26811146;26992070;27023709;27397612;27600516;27846572;27862975;27920218;28169297;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30524438;30779550;31048492;31154438;31530632;31844290;31848261;31998317;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;3356695;33592498;33633747;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34229054;34405274;34509645;34663487;35051231;35132862;35561310;35580925;36010968;36215666;36241641;36284347;40307207;40914422", "class_list": "", "function": "Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (PubMed:25858979, PubMed:31048492)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Leukodystrophy Due to eIF2B Mutations in Adults., [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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "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": "Q53RY7;Q5BJF4;Q9BUV9;Q9UBG4;Q9UIQ9;Q9UJ95", "ec_number_list": "", "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity;GO:0003743 translation initiation factor activity;GO:0031369 translation initiation factor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005851 eukaryotic translation initiation factor 2B complex", "go_biological_process": "GO:0002183 cytoplasmic translational initiation;GO:0006417 regulation of translation;GO:0042552 myelination;GO:0050852 T cell receptor signaling pathway;GO:0006413 translational initiation", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q9UI10-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C1Z6-1", "uniprot_id": "TFPT_HUMAN", "mass": 28278.0, "length": 253, "protein_name": "TCF3 fusion partner", "gene_name": "TFPT", "organism": "Human", "refseq_name": "TCF3 fusion partner isoform 2", "refseq_ac": "NP_001308721", "gene_names_uniprotkb": "TFPT; INO80F", "gene_names_refseq": "FB1; INO80F; TFPT; amida", "protein_names_uniprotkb": "TCF3 fusion partner; INO80 complex subunit F; Protein FB1", "protein_names_refseq": "INO80 complex subunit F; TCF3 (E2A) fusion partner (in childhood Leukemia); TCF3 fusion partner isoform 2; amida, partner of the E2A", "tax_id": 9606, "disease": "", "pathway": " (hsa:29844); (R-HSA-5689603); (R-HSA-5696394)", "pathway_count": 3, "publication_count": 90, "publication_id_list": "10086727;10391953;11237011;11279143;12732143;12815074;12944386;14742321;15811629;15882621;15964821;16223728;16230350;16473935;16678110;16906146;17041757;17081983;17139257;17395368;17882165;18077418;18220336;18452278;18497827;18669648;18922472;19109893;19188440;19413330;19609301;19651622;19664994;19664995;19815555;20068231;20436459;20805357;20855601;21135142;21303910;21388382;21406692;22118460;23045548;23186163;23319653;24275569;24366607;24714562;24715725;2530630;25576301;25645385;26154972;26728094;27600516;27846572;27920218;28063628;28832583;28904123;29242379;29393594;29493099;29557506;30429286;31217245;31530632;31844290;31848261;32157095;32265295;32387766;32488085;32938616;32983136;33141586;33592498;33912179;33968037;34405274;34932366;35051231;35580925;36241641;36284347;8168482;9528852;9790970", "class_list": "", "function": "Although p53 is a main regulator of apoptosis in mammalian cells, the Tfpt induced apoptosis appears p53-independent., [RefSeq, PubMed]; Appears to promote apoptosis in a p53/TP53-independent manner., [UniProtKB]; FB1 is an important binding partner and a functional regulator of U19/EAF2, EAF1, and/or ELL., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "G5E9B5", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0031011 Ino80 complex", "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": 9.1, "record_id": "P0C1Z6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T6L9-1", "uniprot_id": "EMARD_HUMAN", "mass": 77788.0, "length": 678, "protein_name": "Endoplasmic reticulum membrane-associated RNA degradation protein", "gene_name": "ERMARD", "organism": "Human", "refseq_name": "endoplasmic reticulum membrane-associated RNA degradation protein isoform 2", "refseq_ac": "NP_001265460", "gene_names_uniprotkb": "ERMARD; C6orf70", "gene_names_refseq": "C6orf70; ERMARD; PVNH6; dJ266L20.3", "protein_names_uniprotkb": "Endoplasmic reticulum membrane-associated RNA degradation protein; ER membrane-associated RNA degradation protein", "protein_names_refseq": "endoplasmic reticulum membrane-associated RNA degradation protein isoform 2; endoplasmic reticulum membrane-associated RNA degradation protein; transmembrane protein C6orf70", "tax_id": 9606, "disease": "periventricular nodular heterotopia (Disease Ontology:DOID:0050454); periventricular nodular heterotopia 6 (Disease Ontology:DOID:0061269)", "pathway": " (hsa:55780)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;24056535;25880248;26992070;27920218;28218747;28228285;28904123;29393594;29437277;30315122;31844290;32350084;32357974;32387766;33968037;33981976;34509645", "class_list": "", "function": "C6orf70 plays a major role in the control of neuronal migration; its haploinsufficiency or mutation causes periventricular nodular heterotopia., [RefSeq, PubMed]; May play a role in neuronal migration during embryonic development., [UniProtKB, PubMed]; The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DFH0;F8WAF1;Q3ZCS8;Q5T6L8;Q9NUT5;Q9NVU2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q5T6L9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75521-1", "uniprot_id": "ECI2_HUMAN", "mass": 43585.0, "length": 394, "protein_name": "Enoyl-CoA delta isomerase 2", "gene_name": "ECI2", "organism": "Human", "refseq_name": "enoyl-CoA delta isomerase 2 isoform 1", "refseq_ac": "NP_001159482", "gene_names_uniprotkb": "ECI2; DRS1; HCA88; PECI", "gene_names_refseq": "ACBD2; DRS-1; DRS1; ECI2; HCA88; PECI; dJ1013A10.3", "protein_names_uniprotkb": "Enoyl-CoA delta isomerase 2; 5.3.3.8; D3,D2-enoyl-CoA isomerase; DBI-related protein 1; DRS-1; Delta(3),delta(2)-enoyl-CoA isomerase; Diazepam-binding inhibitor-related protein 1; Dodecenoyl-CoA isomerase; Hepatocellular carcinoma-associated antigen 88; Peroxisomal 3,2-trans-enoyl-CoA isomerase; Renal carcinoma antigen NY-REN-1; pECI", "protein_names_refseq": "DBI-related protein 1; acyl-Coenzyme A binding domain containing 2; delta(3),delta(2)-enoyl-CoA isomerase; diazepam-binding inhibitor-related protein 1; dodecenoyl-CoA isomerase; enoyl-CoA delta isomerase 2 isoform 1; enoyl-CoA delta isomerase 2, mitochondrial; hepatocellular carcinoma-associated antigen 88; peroxisomal 3,2-trans-enoyl-CoA isomerase; peroxisomal D3,D2-enoyl-CoA isomerase; renal carcinoma antigen NY-REN-1; testicular secretory protein Li 33", "tax_id": 9606, "disease": "", "pathway": " (hsa:10455)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "10354522;10419495;10508479;11230166;11237011;11256614;12097419;15217832;19608861;23186163;24275569;25576301;25645385;26992070;27846572;27862975;27920218;28218747;28228285;28415728;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29437277;29493099;29557506;29789417;30315122;30379171;30429286;31154438;31217245;31844290;32157095;32350084;32357974;32983136;33592498;33717175;33936100;33968037;34185709;34229054;35580925;36010968;37217939;37938771;39169021", "class_list": "", "function": "Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species. Has a preference for 3-trans substrates., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Enoyl-CoA delta isomerase 2 (ECI2) is a novel AR-target that promotes prostate cancer cell survival, [RefSeq, PubMed]; The lipid-metabolism enzyme ECI2 reduces neutrophil extracellular traps formation for colorectal cancer suppression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 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": 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": "Q5JYK5;Q5JYK7;Q7L124;Q8N0X0;Q9BUE9;Q9H0T9;Q9NQH1;Q9NYH7;Q9UN55", "ec_number_list": "5.3.3.8;4.2.1.17;1.1.1.35", "go_molecular_function": "GO:0000062 fatty-acyl-CoA binding;GO:0004165 delta(3)-delta(2)-enoyl-CoA isomerase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005777 peroxisome;GO:0005782 peroxisomal matrix;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006635 fatty acid beta-oxidation;GO:0009062 fatty acid catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "O75521-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H1R2-1", "uniprot_id": "DUS15_HUMAN", "mass": 31882.0, "length": 295, "protein_name": "Dual specificity protein phosphatase 15", "gene_name": "DUSP15", "organism": "Human", "refseq_name": "dual specificity protein phosphatase 15 isoform b", "refseq_ac": "NP_001012662", "gene_names_uniprotkb": "DUSP15; C20orf57; VHY", "gene_names_refseq": "C20orf57; DUSP15; VHY", "protein_names_uniprotkb": "Dual specificity protein phosphatase 15; 3.1.3.16; 3.1.3.48; VH1-related member Y; Vaccinia virus VH1-related dual-specific protein phosphatase Y", "protein_names_refseq": "VH1-related member Y; dual specificity phosphatase-like 15; dual specificity protein phosphatase 15 isoform b; dual specificity protein phosphatase 15; vaccinia virus VH1-related dual-specific protein phosphatase Y", "tax_id": 9606, "disease": "", "pathway": " (hsa:128853)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;15138252;16170801;22792334;27223645;31844290;32265295;32897882;33417224;34257739;34357683", "class_list": "", "function": "Association between Genetic Variants in DUSP15, CNTNAP2, and PCDHA Genes and Risk of Childhood Autism Spectrum Disorder. Publication Status: Online-Only, [RefSeq, PubMed]; Crystal structure of catalytic domain, [RefSeq, PubMed]; Dual-Specificity Phosphatase 15 (DUSP15) Modulates Notch Signaling by Enhancing the Stability of Notch Protein., [RefSeq, PubMed]; Dusp15/VHY is a key regulator of oligodendrocyte differentiation, and PDGFR-beta and SNX6 are novel and specific Dusp15 substrates., [RefSeq, PubMed]; May dephosphorylate MAPK13, ATF2, ERBB3, PDGFRB and SNX6 (PubMed:22792334)., [UniProtKB, PubMed]; May play a role in the regulation of oligodendrocyte differentiation. May play a role in the regulation of myelin formation (By similarity). Involved in the regulation of Erk1/2 phosphorylation in Schwann cells; the signaling may be linked to the regulation of myelination (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene has both protein-tyrosine phophatase activity and serine/threonine-specific phosphatase activity, and therefore is known as a dual specificity phosphatase. This protein may function in the differentiation of oligodendrocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]; The results showed that dual specificity phosphatase 15 (DUSP15) rs3746599 was significantly associated with autism under allelic, additive and dominant models,The findings initially suggest that DUSP15 might be a susceptibility gene for autism in Chinese Han population., [RefSeq, PubMed]; VHY is a new member of a subgroup of myristoylated VH1-like small dual specificity phosphatases, [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": 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": "A6NH79;A8MVC8;Q5QP62;Q5QP63;Q5QP65;Q6PGN7;Q8N826;Q9BX24", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.21;3.1.3.18;3.1.3.-;3.1.3.5;3.1.3.2;2.7.10.1;3.1.3.67;3.1.3.53;3.1.3.52;3.1.3.27;3.1.3.86;3.1.3.36;3.1.3.74", "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity;GO:0008138 protein tyrosine/serine/threonine phosphatase activity;GO:0016791 phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0016311 dephosphorylation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007165 signal transduction;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0048713 regulation of oligodendrocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9H1R2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75791-1", "uniprot_id": "GRAP2_HUMAN", "mass": 37909.0, "length": 330, "protein_name": "GRB2-related adapter protein 2", "gene_name": "GRAP2", "organism": "Human", "refseq_name": "GRB2-related adapter protein 2 isoform 1", "refseq_ac": "NP_001278753", "gene_names_uniprotkb": "GRAP2; GADS; GRB2L; GRID", "gene_names_refseq": "GADS; GRAP-2; GRAP2; GRB2L; GRBLG; GRID; GRPL; GrbX; Grf40; Mona; P38", "protein_names_uniprotkb": "GRB2-related adapter protein 2; Adapter protein GRID; GRB-2-like protein; GRB2L; GRBLG; GRBX; Grf-40; Grf40 adapter protein; Growth factor receptor-binding protein; Hematopoietic cell-associated adapter protein GrpL; P38; Protein GADS; SH3-SH2-SH3 adapter Mona", "protein_names_refseq": "GRB-2-like protein; GRB2-related adapter protein 2 isoform 1; GRB2-related adapter protein 2; GRB2-related protein with insert domain; SH3-SH2-SH3 adapter Mona; SH3-SH2-SH3 adaptor molecule; adapter protein GRID; grf-40; grf40 adapter protein; growth factor receptor-binding protein; growth factor receptor-bound protein 2-related adaptor protein 2; hematopoietic cell-associated adapter protein GrpL; hematopoietic cell-associated adaptor protein GRPL", "tax_id": 9606, "disease": "hepatitis C (Disease Ontology:DOID:1883)", "pathway": " (hsa:9402); (R-HSA-1433557); (R-HSA-202433); (R-HSA-2424491); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-389356); (R-HSA-9607240); (R-HSA-9680350)", "pathway_count": 9, "publication_count": 225, "publication_id_list": "10021361;10026222;10072481;10102273;10209041;10224278;10323868;10358045;10377264;10395673;10397721;10523831;10523834;10671560;10679268;10744696;10747096;10783894;10811803;10820259;10860980;10884405;11007481;11015619;11027663;11030334;11048639;11094066;11094073;11237011;11278486;11306453;11340169;11368773;11390650;11395409;11395417;11494148;11520784;11607830;11707405;11752630;11804587;11809791;11907067;12062105;12062812;12084069;12192036;12359715;12471105;12487779;12522270;12573241;12660731;12670394;12824176;12878163;12882960;12911816;12975316;1334462;1371879;1375232;1381360;14510693;14981546;15143187;15144186;15184383;15365099;15526160;15536084;15548136;16129412;16266983;16483568;16684964;16737840;16818765;16873377;16938345;1721591;17254966;17255936;17344430;17502104;17540168;17652306;17662946;18088087;18296442;18391968;18467591;18477386;18691974;18697750;18787071;19064725;19124833;19438505;19477218;19574218;19592646;19608861;19690332;19805105;19909365;20304997;20484116;20489731;21049007;21179510;21389326;21659545;21827948;2196173;22153499;22483114;22645359;23168613;23186163;23246379;2374928;24275569;24890514;25452106;26029847;26154972;26235028;26895103;26992070;27536065;27920218;28228285;28514659;28522571;28576946;28832583;28834231;28851395;28904123;29242379;29309929;29317506;29393594;29493099;29557506;29632046;29704617;29964125;30315122;31066629;31085175;31844290;32157095;32502341;32983136;33912179;34185709;34357683;34561969;35051231;35580925;7506952;7509796;7518558;7523381;7526158;7536744;7565724;7597091;7680037;7681396;7737969;7855889;7997270;8145851;8355686;8479541;8493579;8609386;8611693;8629002;8630736;8631904;8636116;8647802;8649453;8663278;8673706;8695790;8702662;8774734;8798379;8799126;8824201;8946678;8950973;8981370;8986718;8990121;8995445;9038210;9045650;9099726;9111318;9115214;9199344;9225065;9256427;9355737;9396765;9446650;9490415;9639556;9690470;9799234;9830044;9846482;9872323;9878555;9918857;9973466;9989831", "class_list": "", "function": "Interacts with SLP-76 to regulate NF-AT activation. Binds to tyrosine-phosphorylated shc., [UniProtKB]; This gene encodes a member of the GRB2/Sem5/Drk family. This member is an adaptor-like protein involved in leukocyte-specific protein-tyrosine kinase signaling. Like its related family member, GRB2-related adaptor protein (GRAP), this protein contains an SH2 domain flanked by two SH3 domains. This protein interacts with other proteins, such as GRB2-associated binding protein 1 (GAB1) and the SLP-76 leukocyte protein (LCP2), through its SH3 domains. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]., [RefSeq]; Upstream open reading frames regulate translation of this protein's mRNA in megakaryocytes., [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": 8, "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": "B7Z8I3;O43726;Q9NRB7", "ec_number_list": "", "go_molecular_function": "GO:0001784 phosphotyrosine residue binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0007265 Ras protein signal transduction;GO:0043408 regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 22.6, "record_id": "O75791-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P47813-1", "uniprot_id": "IF1AX_HUMAN", "mass": 16460.0, "length": 144, "protein_name": "Eukaryotic translation initiation factor 1A, X-chromosomal", "gene_name": "EIF1AX", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 1A, X-chromosomal", "refseq_ac": "NP_001403", "gene_names_uniprotkb": "EIF1AX; EIF1A; EIF4C", "gene_names_refseq": "EIF1AP1; EIF1AX; EIF1A; EIF4C; eIF-1A; eIF-4C", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 1A, X-chromosomal; Eukaryotic translation initiation factor 4C; eIF-1A X isoform; eIF-4C; eIF1A X isoform", "protein_names_refseq": "Putative eukaryotic translation initiation factor 1A; eIF1A X isoform; eukaryotic translation initiation factor 1A, X chromosome; eukaryotic translation initiation factor 1A, X-chromosomal; eukaryotic translation initiation factor 4C", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); Alzheimer's disease (Disease Ontology:DOID:10652); breast cancer (Disease Ontology:DOID:1612); nephroblastoma (Disease Ontology:DOID:2154); brain ischemia (Disease Ontology:DOID:2316); transitional cell carcinoma (Disease Ontology:DOID:2671); ovarian carcinoma (Disease Ontology:DOID:4001); renal cell carcinoma (Disease Ontology:DOID:4450); schizophrenia (Disease Ontology:DOID:5419); uveal melanoma (Disease Ontology:DOID:6039)", "pathway": " (hsa:1964); (R-HSA-156827); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706)", "pathway_count": 7, "publication_count": 58, "publication_id_list": "10364207;10659855;10678173;1095581;11018020;1104615;11237011;12493757;12569173;12588972;14567916;1856230;18991276;23719902;24319994;24714562;25479059;26154972;26992070;28352266;28510447;28904123;29226425;29242379;30211544;30484775;32502341;33091337;33141586;33214551;33392160;33592498;33717175;33912179;33936100;34019948;34087483;34171305;35080085;35609001;35732735;36215666;36284347;36371345;36589683;37217939;429297;592398;592399;641056;6853548;6901506;7000367;8106356;8943342;9045610;9732867;9857202", "class_list": "", "function": "Clinicopathological features and outcomes of thyroid nodules with EIF1AX mutations. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the 43S pre-initiation complex (43S PIC), which binds to the mRNA cap-proximal region, scans mRNA 5'-untranslated region, and locates the initiation codon (PubMed:9732867). This protein enhances formation of the cap-proximal complex (PubMed:9732867). Together with EIF1, facilitates scanning, start codon recognition, promotion of the assembly of 48S complex at the initiation codon (43S PIC becomes 48S PIC after the start codon is reached), and dissociation of aberrant complexes (PubMed:9732867). After start codon location, together with EIF5B orients the initiator methionine-tRNA in a conformation that allows 60S ribosomal subunit joining to form the 80S initiation complex (PubMed:35732735). Is released after 80S initiation complex formation, just after GTP hydrolysis by EIF5B, and before release of EIF5B (PubMed:35732735). Its globular part is located in the A site of the 40S ribosomal subunit (PubMed:35732735). Its interaction with EIF5 during scanning contribute to the maintenance of EIF1 within the open 43S PIC (PubMed:24319994). In contrast to yeast orthologs, does not bind EIF1 (PubMed:24319994)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; EIF1AX mutation in thyroid tumors: a retrospective analysis of cytology, histopathology and co-mutation profiles. Publication Status: Online-Only, [RefSeq, PubMed]; EIF5B and eIF1A reorient initiator tRNA to allow ribosomal subunit joining., [RefSeq, PubMed]; Long noncoding RNA EIF1AX-AS1 promotes endometrial cancer cell apoptosis by affecting EIF1AX mRNA stabilization., [RefSeq, PubMed]; This gene encodes an essential eukaryotic translation initiation factor. The protein is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5' end of capped RNA. [provided by RefSeq, Jul 2008]., [RefSeq]; XPO1-Mediated EIF1AX Cytoplasmic Relocation Promotes Tumor Migration and Invasion in Endometrial 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "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": "B2R5U5;Q0VGC2;Q5JPS5;Q5JPS6", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0000049 tRNA binding;GO:0008135 translation factor activity, RNA binding;GO:0003743 translation initiation factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045202 synapse;GO:0016282 eukaryotic 43S preinitiation complex;GO:0033290 eukaryotic 48S preinitiation complex", "go_biological_process": "GO:0006413 translational initiation;GO:0042255 ribosome assembly", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "P47813-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94889-1", "uniprot_id": "KLH18_HUMAN", "mass": 63638.0, "length": 574, "protein_name": "Kelch-like protein 18", "gene_name": "KLHL18", "organism": "Human", "refseq_name": "kelch-like protein 18", "refseq_ac": "NP_079286", "gene_names_uniprotkb": "KLHL18; KIAA0795; SW-cl.74", "gene_names_refseq": "KLHL18", "protein_names_uniprotkb": "Kelch-like protein 18", "protein_names_refseq": "kelch-like protein 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:23276)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;23213400;23481700;24714562;25418920;25576301;25645385;26811146;26992070;27893789;28228285;28514659;28904123;29242379;30315122;30410026;31696965;31844290;32157095;32350084;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34405274;34509645;34932366;35051231;36010968;36215666;36241641", "class_list": "", "function": "Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis (PubMed:23213400). The BCR(KLHL18) E3 ubiquitin ligase complex mediates the ubiquitination of AURKA leading to its activation at the centrosome which is required for initiating mitotic entry (PubMed:23213400). Regulates light-and dark-dependent alpha-transducin localization changes in rod photoreceptors through UNC119 ubiquitination and degradation (By similarity). Preferentially ubiquitinates the unphosphorylated form of UNC119 over the phosphorylated form (By similarity). In the presence of UNC119, under dark-adapted conditions alpha-transducin mislocalizes from the outer segment to the inner part of rod photoreceptors which leads to decreased photoreceptor damage caused by light (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": 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": "A8K612;Q7Z3E8;Q8N125", "ec_number_list": "", "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0051301 cell division;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:1901992 positive regulation of mitotic cell cycle phase transition", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "O94889-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TDR0-1", "uniprot_id": "MIPT3_HUMAN", "mass": 78632.0, "length": 691, "protein_name": "TRAF3-interacting protein 1", "gene_name": "TRAF3IP1", "organism": "Human", "refseq_name": "TRAF3-interacting protein 1 isoform 2", "refseq_ac": "NP_001132962", "gene_names_uniprotkb": "TRAF3IP1; IFT54; MIPT3", "gene_names_refseq": "CFAP116; FAP116; IFT54; MIP-T3; MIPT3; SLSN9; TRAF3IP1", "protein_names_uniprotkb": "TRAF3-interacting protein 1; Interleukin-13 receptor alpha 1-binding protein 1; Intraflagellar transport protein 54 homolog; MIP-T3; Microtubule-interacting protein associated with TRAF3", "protein_names_refseq": "TNF receptor-associated factor 3 interacting protein 1; TRAF3 interacting protein 1; TRAF3-interacting protein 1 isoform 2; interleukin 13 receptor alpha 1-binding protein-1; intraflagellar transport protein 54 homolog; microtubule interacting protein that associates with TRAF3; microtubule-interacting protein associated with TRAF3", "tax_id": 9606, "disease": "Senior-Loken syndrome (Disease Ontology:DOID:0050576); Senior-Loken syndrome 9 (Disease Ontology:DOID:0061283); nephronophthisis (Disease Ontology:DOID:12712)", "pathway": " (hsa:26146); (R-HSA-5620924)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10069812;10791955;11237011;11285270;12795688;12812986;12935900;15231740;15269286;15489852;15523559;15955805;16049494;16435301;16492809;16775004;16782012;17081983;17312020;17314406;17574030;18180368;18304522;18364699;18369462;18452278;18852297;19112494;19147001;19251251;19253336;19384852;19450523;19720863;19805633;20435895;20526327;20526328;20530210;20889716;21406692;21427764;21936775;22118932;22922713;22992454;23186163;23945166;23990561;24140113;24296415;24596149;24616010;25205765;25349261;25443296;26487268;26992070;28411811;28904123;29242379;29741879;30379171;30484775;31844290;32157095;32938616;33691108;33968037;35051231;36215666;36241641;38551798;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays an inhibitory role on IL13 signaling by binding to IL13RA1. Involved in suppression of IL13-induced STAT6 phosphorylation, transcriptional activity and DNA-binding. Recruits TRAF3 and DISC1 to the microtubules. Involved in kidney development and epithelial morphogenesis. Involved in the regulation of microtubule cytoskeleton organization. Is a negative regulator of microtubule stability, acting through the control of MAP4 levels (PubMed:26487268). Involved in ciliogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene interacts with TNF receptor-associated factor 3, tethering it to cytoskeletal microtubules. The encoded protein is also an inhibitor of the innate type I IFN response. Defects in this gene are a cause of Senior-Loken syndrome 9. [provided by RefSeq, Mar 2017]., [RefSeq]; These results suggest that MIP-T3 is a novel inhibitor of IL-13 signaling and may be a useful molecule in ameliorating various conditions in which IL-13 plays a central role., [RefSeq, PubMed]; [1]H, [13]C, and [15]N resonance assignments and solution structure of the N-terminal divergent calponin homology (NN-CH) domain of human intraflagellar transport protein 54., [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": 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": 16, "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": "Q6PCT1;Q7L8N9;Q9NRD6;Q9Y4Q1", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005929 cilium;GO:0005930 axoneme;GO:0036064 ciliary basal body;GO:0097546 ciliary base", "go_biological_process": "GO:0001822 kidney development;GO:0001933 negative regulation of protein phosphorylation;GO:0060271 cilium assembly;GO:0031333 negative regulation of protein-containing complex assembly;GO:0001738 morphogenesis of a polarized epithelium", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q8TDR0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VZV1-1", "uniprot_id": "MT21C_HUMAN", "mass": 29565.0, "length": 264, "protein_name": "Protein-lysine methyltransferase METTL21C", "gene_name": "METTL21C", "organism": "Human", "refseq_name": "protein-lysine methyltransferase METTL21C", "refseq_ac": "NP_001010977", "gene_names_uniprotkb": "METTL21C; C13orf39", "gene_names_refseq": "C13orf39; METTL21C", "protein_names_uniprotkb": "Protein-lysine methyltransferase METTL21C; 2.1.1.-; Methyltransferase-like protein 21C", "protein_names_refseq": "methyltransferase like 21C; methyltransferase-like protein 21C; protein-lysine methyltransferase METTL21C", "tax_id": 9606, "disease": "", "pathway": " (hsa:196541)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "22948820;23349634;27628047;32611769;35051231;35580925;36215666", "class_list": "", "function": "Protein-lysine N-methyltransferase using S-adenosyl-L-methionine as methyl donor (PubMed:22948820, PubMed:32611769). Mono-di and trimethylates 'Lys-943' of AARS1 (PubMed:32611769)., [UniProtKB, PubMed, PubMed]; The polymorphisms and haplotypes of METTL21C contribute to the peak bone mineral density and total fat mass in Chinese males., [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": 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": "", "ec_number_list": "2.1.1.-;2.1.1.364;2.1.1.359;2.1.1.361;2.1.1.355;2.1.1.354;2.1.1.362", "go_molecular_function": "GO:0031072 heat shock protein binding;GO:0008276 protein methyltransferase activity;GO:0016279 protein-lysine N-methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006479 protein methylation;GO:0018022 peptidyl-lysine methylation", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q5VZV1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NEH6-1", "uniprot_id": "MNS1_HUMAN", "mass": 60571.0, "length": 495, "protein_name": "Meiosis-specific nuclear structural protein 1", "gene_name": "MNS1", "organism": "Human", "refseq_name": "meiosis-specific nuclear structural protein 1", "refseq_ac": "NP_060835", "gene_names_uniprotkb": "MNS1", "gene_names_refseq": "CFAP127; HTX9; MNS1; SPATA40", "protein_names_uniprotkb": "Meiosis-specific nuclear structural protein 1", "protein_names_refseq": "cilia and flagella associated protein 127; meiosis-specific nuclear structural protein 1; spermatogenesis associated 40", "tax_id": 9606, "disease": "visceral heterotaxy 9 (Disease Ontology:DOID:0051023)", "pathway": " (hsa:55329)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "15942958;23481700;28514659;28832583;28834231;28904123;29242379;29557506;30148830;30429286;31534215;31844290;31848261;32161166;32387766;32502341;32938616;32983136;33037173;33141586;33506565;33936100;33968037;34087483;35561310;36191189;36284347;38920647;8032679", "class_list": "", "function": "A novel homozygous frameshift mutation in MNS1 associated with severe oligoasthenoteratozoospermia in humans., [RefSeq, PubMed]; A rat homologous protein was among the the nuclear proteins that change in abundance or form in response to prolonged hypoxia in the rat kidney fibroblasts., [RefSeq, PubMed]; Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement. Publication Status: Online-Only, [RefSeq, PubMed]; Cloning and functional characterization of a highly similar gene in mouse., [RefSeq, PubMed]; MNS1 promotes hepatocarcinogenesis and metastasis via activating PI3K/AKT by translocating beta-catenin and predicts poor prognosis., [RefSeq, PubMed]; Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). May play a role in the control of meiotic division and germ cell differentiation through regulation of pairing and recombination during meiosis. Required for sperm flagella assembly (By similarity). May play a role in the assembly and function of the outer dynein arm-docking complex (ODA-DC). ODA-DC mediates outer dynein arms (ODA) binding onto the axonemal doublet microtubules (PubMed:30148830)., [UniProtKB, UniProtKB, PubMed, PubMed]; This gene encodes a protein highly similar to the mouse meiosis-specific nuclear structural 1 protein. The mouse protein was shown to be expressed at the pachytene stage during spermatogenesis and may function as a nuclear skeletal protein to regulate nuclear morphology during meiosis. [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": 1, "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": "Q8IYT6;Q9NUP4", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0097229 sperm end piece;GO:0005635 nuclear envelope;GO:0005929 cilium;GO:0031514 motile cilium;GO:0005882 intermediate filament", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0051321 meiotic cell cycle;GO:0044782 cilium organization;GO:0007288 sperm axoneme assembly;GO:0045724 positive regulation of cilium assembly", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q8NEH6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z5A4-1", "uniprot_id": "PRS42_HUMAN", "mass": 32006.0, "length": 293, "protein_name": "Putative serine protease 42", "gene_name": "PRSS42P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "PRSS42P; PRSS42; TESSP2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative serine protease 42; 3.4.21.-; Serine protease 42, pseudogene; Testis serine protease 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "12838346;29557506;31844290", "class_list": "", "function": "Plays a role in spermatogenesis. Involved in germ cell survival during meiosis., [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": 0, "reported_glycation": 0, "reported_snv": 0, "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:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0098552 side of membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q7Z5A4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P84095-1", "uniprot_id": "RHOG_HUMAN", "mass": 21309.0, "length": 191, "protein_name": "Rho-related GTP-binding protein RhoG", "gene_name": "RHOG", "organism": "Human", "refseq_name": "rho-related GTP-binding protein RhoG", "refseq_ac": "NP_001656", "gene_names_uniprotkb": "RHOG; ARHG", "gene_names_refseq": "ARHG; RHOG", "protein_names_uniprotkb": "Rho-related GTP-binding protein RhoG; 3.6.5.2", "protein_names_refseq": "ras homolog gene family, member G (rho G); rho-related GTP-binding protein RhoG", "tax_id": 9606, "disease": "epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:391); (R-HSA-114604); (R-HSA-1257604); (R-HSA-2219530); (R-HSA-5625970); (R-HSA-6798695); (R-HSA-6811558); (R-HSA-9013408)", "pathway_count": 8, "publication_count": 164, "publication_id_list": "10026222;10191262;10469124;10523675;10652265;10913441;11147812;11262396;11481033;11689693;11803464;11864571;11933159;11967128;12167717;12177196;12376551;12767043;12813055;12832405;1325671;15133129;15708849;15718470;15834429;16174766;1620121;16339170;16339315;16456541;16647110;16938345;17027967;17074883;17200115;17616532;17626883;17875742;18079394;18317450;18589439;18594509;18606717;1874735;18754654;18755892;18829560;18925875;18955485;19185485;19409513;19411071;19576174;19581409;19644473;19700402;19713215;19805105;19850008;19962665;20068231;20231295;20338997;20522708;20679435;20713702;21188471;21317208;21368164;21478295;21621533;21668414;21827948;21976531;21984976;22120714;22188813;22267732;22588880;22734669;22802530;23186163;23255595;23650620;24659802;24714562;24905543;25576301;26154972;26728094;26992070;27452731;27481945;27846572;28196833;28228285;2841328;28467828;28736554;28832583;28904123;29242379;29314611;29557506;29786170;30315122;30429286;30573663;30914742;31092671;31530632;31793126;31844290;31848261;31871319;32350084;32357974;32387766;32651375;32938616;32963317;32983136;33298915;33392160;33513601;33592498;33912179;33968037;34087483;34357683;34932366;35051231;35251023;35561310;35580925;36215666;36932164;38665916;38857861;7476457;7624799;7637810;7744773;7787244;8246984;8464478;8617742;8645157;8657148;8673706;8692836;8769096;8810274;8912005;8939998;8986718;8990121;9028946;9438848;9736715;9768361;9822605;9822636;9895304", "class_list": "", "function": "(Microbial infection) In case of Salmonella enterica infection, activated by SopB and ARHGEF26/SGEF, which induces cytoskeleton rearrangements and promotes bacterial entry., [UniProtKB, PubMed]; Plays a role in immunological synaptic F-actin density and architecture organization (PubMed:33513601). Regulates actin reorganization in lymphocytes, possibly through the modulation of Rac1 activity (PubMed:33513601). Acts as an activator of the ELMO-DOCK-Rac pathway (PubMed:32651375, PubMed:38857861). Required for the formation of membrane ruffles during macropinocytosis (PubMed:15133129). Plays a role in cell migration and is required for the formation of cup-like structures during trans-endothelial migration of leukocytes (PubMed:17875742). Binds phospholipids in an activation-dependent manner; thereby acting as an anchor for other proteins to the plasma membrane (PM) (PubMed:33513601). Plays a role in exocytosis of cytotoxic granules (CG) by lymphocytes/Component of the exocytosis machinery in natural killer (NK) and CD8+ T cells (PubMed:33513601). Promotes the docking of cytotoxic granules (CG) to the plasma membrane through the interaction with UNC13D (PubMed:33513601). Involved in the cytotoxic activity of lymphocytes/primary CD8+ T cells (PubMed:33513601)., [UniProtKB, PubMed, PubMed, PubMed]; Regulation of Ras homolog family member G by microRNA-124 regulates proliferation and migration of human retinal pigment epithelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis., [RefSeq, PubMed]; RhoG facilitates a conformational transition in the guanine nucleotide exchange factor complex DOCK5/ELMO1 to an open state., [RefSeq, PubMed]; RhoG/Rac1 signaling pathway was involved in salivary adenoid cystic carcinoma (SACC) cell migration and invasion. RhoG/Rac1 at least partially mediated epiregulin/Src/AKT/ERK1/2 signaling to promote SACC cell migration and invasion., [RefSeq, PubMed]; The small GTPase RhoG regulates microtubule-mediated focal adhesion disassembly. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein facilitates translocation of a functional guanine nucleotide exchange factor (GEF) complex from the cytoplasm to the plasma membrane where ras-related C3 botulinum toxin substrate 1 is activated to promote lamellipodium formation and cell migration. Two related pseudogene have been identified on chromosomes 20 and X. [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": 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": 2, "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": "P35238;Q8NI04", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;2.7.1.153;2.7.1.137;3.6.5.5;2.3.1.-;2.7.11.1;3.6.1.5;7.1.1.2;2.7.10.1;2.7.10.2;3.4.24.11;3.1.3.48;3.4.11.2;2.4.1.-;2.4.1.275;2.4.1.22;2.4.1.38;2.4.1.90;3.6.1.-;2.1.2.1;1.2.1.5;1.2.1.28;1.2.1.7;1.2.1.48;2.7.1.154;3.6.5.4;3.2.2.6;5.6.1.3;3.1.4.4;1.3.1.70;2.7.11.25;7.6.2.-;3.6.-.-;3.6.1.15;3.6.1.6;3.6.1.42;2.3.2.27", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "GO:0007015 actin filament organization;GO:0008284 positive regulation of cell population proliferation;GO:0032956 regulation of actin cytoskeleton organization;GO:0030036 actin cytoskeleton organization;GO:0007266 Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "P84095-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q01973-1", "uniprot_id": "ROR1_HUMAN", "mass": 104283.0, "length": 937, "protein_name": "Inactive tyrosine-protein kinase transmembrane receptor ROR1", "gene_name": "ROR1", "organism": "Human", "refseq_name": "inactive tyrosine-protein kinase transmembrane receptor ROR1 isoform 2 precursor", "refseq_ac": "NP_001077061", "gene_names_uniprotkb": "ROR1; NTRKR1", "gene_names_refseq": "NTRKR1; ROR1; dJ537F10.1", "protein_names_uniprotkb": "Inactive tyrosine-protein kinase transmembrane receptor ROR1; Neurotrophic tyrosine kinase, receptor-related 1", "protein_names_refseq": "inactive tyrosine-protein kinase transmembrane receptor ROR1 isoform 2 precursor; inactive tyrosine-protein kinase transmembrane receptor ROR1; neurotrophic tyrosine kinase, receptor-related 1", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 108 (Disease Ontology:DOID:0080263)", "pathway": " (hsa:4919); (R-HSA-5140745)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10.1101/2023.09.13.557529;1334494;15654020;16959974;17117926;17344846;19582886;19910923;22101459;23090970;24107129;24190977;24715725;25029443;25576301;25645385;26562161;27162350;27846572;29242379;29314611;29557506;29632711;31844290;32157095;32619402;33592498;33968037;35051231;35580925;36010968;36215666;36949068;37074911;37343369;37481855;37938771;38273649;38531660;38587578;8875995", "class_list": "", "function": "Evaluation of the prognostic significance of receptor tyrosine kinase-like orphan receptor 1 (ROR1) in lung carcinoma and its relation to lymphangiogenesis and epithelial mesenchymal transition., [RefSeq, PubMed]; Has very low kinase activity in vitro and is unlikely to function as a tyrosine kinase in vivo (PubMed:25029443). Receptor for ligand WNT5A which activates downstream NFkB signaling pathway and may result in the inhibition of WNT3A-mediated signaling (PubMed:25029443, PubMed:27162350). In the inner ear, crucial for spiral ganglion neurons to innervate auditory hair cells (PubMed:27162350). Via IGFBP5 ligand, forms a complex with ERBB2 to enhance CREB oncogenic signaling (PubMed:36949068)., [UniProtKB, PubMed, PubMed, PubMed]; ROR1 expression in mature B lymphoid neoplasms by flow cytometry., [RefSeq, PubMed]; ROR1/STAT3 positive feedback loop facilitates cartilage degeneration in Osteoarthritis through activation of NF-kappaB signaling pathway., [RefSeq, PubMed]; Role of Wnt5b-Ror1 signaling in the proliferation of pancreatic ductal adenocarcinoma cells., [RefSeq, PubMed]; Role of the Ror family receptors in Wnt5a signaling. Review article, [RefSeq, PubMed]; The ROR1 protein modulates the growth of neurites as well as their branching pattern in hippocampal neurons., [RefSeq, PubMed]; This gene encodes a receptor tyrosine kinase-like orphan receptor that modulates neurite growth in the central nervous system. The encoded protein is a glycosylated type I membrane protein that belongs to the ROR subfamily of cell surface receptors. It is a pseudokinase that lacks catalytic activity and may interact with the non-canonical Wnt signalling pathway. This gene is highly expressed during early embryonic development but expressed at very low levels in adult tissues. Increased expression of this gene is associated with B-cell chronic lymphocytic leukaemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2012]., [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": 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": 1, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 9803, "biomarker_type": "", "glycan_count": 5, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q5VVX6;Q66K77;Q92776", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0015026 coreceptor activity;GO:0017147 Wnt-protein binding;GO:0004714 transmembrane receptor protein tyrosine kinase activity;GO:0042813 Wnt receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030424 axon;GO:0043235 receptor complex;GO:0043679 axon terminus", "go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0008283 cell population proliferation;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0007605 sensory perception of sound;GO:0048839 inner ear development", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q01973-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P30530-1", "uniprot_id": "UFO_HUMAN", "mass": 98337.0, "length": 894, "protein_name": "Tyrosine-protein kinase receptor UFO", "gene_name": "AXL", "organism": "Human", "refseq_name": "tyrosine-protein kinase receptor UFO isoform 2 precursor", "refseq_ac": "NP_001690", "gene_names_uniprotkb": "AXL; UFO", "gene_names_refseq": "ARK; AXL3; AXL; JTK11; Tyro7; UFO", "protein_names_uniprotkb": "Tyrosine-protein kinase receptor UFO; 2.7.10.1; AXL oncogene", "protein_names_refseq": "AXL oncogene; AXL transforming sequence/gene; tyrosine-protein kinase receptor UFO isoform 2 precursor; tyrosine-protein kinase receptor UFO", "tax_id": 9606, "disease": "glomerulonephritis (Disease Ontology:DOID:2921); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:558); (R-HSA-4420097); (R-HSA-9918485)", "pathway_count": 3, "publication_count": 153, "publication_id_list": "10.1101/2023.09.13.557529;10037737;10075701;10207622;10395673;10403904;10677529;10692392;10744763;10749680;11007481;11237011;11278486;11337487;11484958;11695992;11696015;12134158;12214271;12215529;12364394;12391143;12464388;12470648;12490074;12660731;12682107;12810700;12820653;14724572;15026417;15098107;15247219;15308668;15507525;15507651;15688067;15695828;15733062;15838506;15958209;15962004;16336962;16362042;1656220;16760434;16966330;17005688;17016520;17030947;17199126;17237347;17293873;17344846;17389395;17686471;18266465;18346204;1834974;18691976;18707149;18840707;19230644;19267251;19815557;20658524;21445309;21501828;22156524;22327215;2247464;22673088;22689825;23084921;23090970;23216836;23658209;24074594;24190977;25277499;26056282;26212330;26313459;26468529;26580964;27102439;27452731;27775700;27829217;27832191;27862975;28076778;28675785;29242379;29379210;29391424;29507355;29557506;29610346;29742433;30237853;30484775;30524438;30647852;30779550;30923103;31269715;31311882;31720911;31723838;31844290;32157095;32488085;32897882;32938616;32952632;33040087;33203881;33214551;33283192;33592498;33968037;33981976;34019948;34171305;35051231;35289036;35580925;36010968;36241641;36284347;37074911;38389126;38391974;38493215;38648454;38665916;38886556;39660536;7509446;7854420;7896447;8247543;8617235;8621659;8986718;9099726;9178760;9182576;9393975;9398617;9472046;9931503", "class_list": "", "function": "(Microbial infection) Acts as a receptor for Ebolavirus, possibly through GAS6 binding to phosphatidyl-serine at the surface of virion envelope., [UniProtKB, PubMed]; (Microbial infection) Acts as a receptor for lassa virus and lymphocytic choriomeningitis virus, possibly through GAS6 binding to phosphatidyl-serine at the surface of virion envelope., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; (Microbial infection) Promotes Zika virus entry in glial cells, Sertoli cells and astrocytes (PubMed:28076778, PubMed:29379210, PubMed:31311882). Additionally, Zika virus potentiates AXL kinase activity to antagonize type I interferon signaling and thereby promotes infection (PubMed:28076778). Interferon signaling inhibition occurs via an SOCS1-dependent mechanism (PubMed:29379210)., [UniProtKB, PubMed, PubMed, PubMed]; ARRDC3 regulates the targeted therapy sensitivity of clear cell renal cell carcinoma by promoting AXL degradation., [RefSeq, PubMed]; Aberrant activation of AXL may drive progression of squamous cell carcinoma in CLL patients: a mechanistic study with clinical implications., [RefSeq, PubMed]; Axl and MerTK regulate synovial inflammation and are modulated by IL-6 inhibition in rheumatoid arthritis. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding growth factor GAS6 and which is thus regulating many physiological processes including cell survival, cell proliferation, migration and differentiation. Ligand binding at the cell surface induces dimerization and autophosphorylation of AXL. Following activation by ligand, AXL binds and induces tyrosine phosphorylation of PI3-kinase subunits PIK3R1, PIK3R2 and PIK3R3; but also GRB2, PLCG1, LCK and PTPN11. Other downstream substrate candidates for AXL are CBL, NCK2, SOCS1 and TNS2. Recruitment of GRB2 and phosphatidylinositol 3 kinase regulatory subunits by AXL leads to the downstream activation of the AKT kinase. GAS6/AXL signaling plays a role in various processes such as endothelial cell survival during acidification by preventing apoptosis, optimal cytokine signaling during human natural killer cell development, hepatic regeneration, gonadotropin-releasing hormone neuron survival and migration, platelet activation, or regulation of thrombotic responses. Also plays an important role in inhibition of Toll-like receptors (TLRs)-mediated innate immune response., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Serum GAS6, sAXL, IL-10, NO, and BCL-2 levels are decreased in patients with Behcet's disease., [RefSeq, PubMed]; Signaling Pathways of AXL Receptor Tyrosine Kinase Contribute to the Pathogenetic Mechanisms of Glioblastoma. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. The encoded protein acts as a host cell receptor for multiple viruses, including Marburg, Ebola and Lassa viruses and is a candidate receptor for the SARS-CoV2 virus. [provided by RefSeq, Sep 2021]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 5, "mined_n_glycosites": 4, "mined_o_glycosites": 0, "mined_c_glycosites": 1, "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 2, "total_c_glycosites": 1, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 76, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 14, "disease_count": 2, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q8N5L2;Q9UD27", "ec_number_list": "6.2.1.45;2.7.12.2;2.7.10.1;2.7.10.2;2.7.11.1;2.7.12.1;3.4.21.75;2.7.1.40;2.7.1.32;2.7.1.82;6.2.1.-;2.7.10.4;2.7.1.153;2.7.1.137;2.7.11.13;2.7.11.23;3.1.-.-;6.2.1.64", "go_molecular_function": "GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0001618 virus receptor activity;GO:0001786 phosphatidylserine binding;GO:0004714 transmembrane receptor protein tyrosine kinase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043235 receptor complex;GO:0070062 extracellular exosome", "go_biological_process": "GO:0001779 natural killer cell differentiation;GO:0035457 cellular response to interferon-alpha;GO:0001961 positive regulation of cytokine-mediated signaling pathway;GO:2000669 negative regulation of dendritic cell apoptotic process;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 17.6, "record_id": "P30530-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61077-1", "uniprot_id": "UB2D3_HUMAN", "mass": 16687.0, "length": 147, "protein_name": "Ubiquitin-conjugating enzyme E2 D3", "gene_name": "UBE2D3", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 D3 isoform 1", "refseq_ac": "NP_003331", "gene_names_uniprotkb": "UBE2D3; UBC5C; UBCH5C", "gene_names_refseq": "E2(17)KB3; UBC4/5; UBCH5C; UBE2D3", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 D3; (E3-independent) E2 ubiquitin-conjugating enzyme D3; 2.3.2.23; 2.3.2.24; E2 ubiquitin-conjugating enzyme D3; Ubiquitin carrier protein D3; Ubiquitin-conjugating enzyme E2(17)KB 3; Ubiquitin-conjugating enzyme E2-17 kDa 3; Ubiquitin-protein ligase D3", "protein_names_refseq": "(E3-independent) E2 ubiquitin-conjugating enzyme D3; E2 ubiquitin-conjugating enzyme D3; ubiquitin carrier protein D3; ubiquitin conjugating enzyme E2D 3; ubiquitin-conjugating enzyme E2 D3 isoform 1; ubiquitin-conjugating enzyme E2(17)KB 3; ubiquitin-conjugating enzyme E2-17 kDa 3; ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast); ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5); ubiquitin-protein ligase D3", "tax_id": 9606, "disease": "", "pathway": " (hsa:7323); (R-HSA-1234176); (R-HSA-168927); (R-HSA-201451); (R-HSA-2173795); (R-HSA-5205685); (R-HSA-5357905); (R-HSA-8866654); (R-HSA-8951664); (R-HSA-9033241); (R-HSA-936440); (R-HSA-937041); (R-HSA-9705462); (R-HSA-983168); (R-HSA-9954716)", "pathway_count": 15, "publication_count": 475, "publication_id_list": "10022913;10197981;10199400;10329681;10458166;10485843;10521396;10531062;10535940;10535941;10549282;10562279;10587642;10587654;10597293;10673331;10712517;10811609;10823831;10837247;10878807;10944113;10973499;11016919;11024059;11062501;11069780;11098060;11101887;11121043;11158580;11181075;11237011;11259415;11278251;11292861;11292862;11350924;11358837;11389444;11427533;11427719;11454738;11504942;11509558;11546814;11571290;11577081;11585840;11598268;11714695;11733065;11740563;11743028;11779505;11781871;11931631;11961546;12101228;12133942;12151385;12167698;12186903;12351678;12456682;12504025;12504026;12519765;12526791;12538644;12559034;12578380;12592392;12609982;12615973;12646216;12646252;12682069;12709429;12717447;12759363;12788921;12816948;12821673;12821933;12857866;12885776;12912907;14512302;14690597;14716293;14734113;14757770;15024054;15064760;15107455;15215855;15215856;15224091;15224092;15247232;15247280;15258597;15280377;15282312;15361859;15367669;15474027;15496420;15537541;15545321;15571818;15572695;15574592;15601820;15601839;15652483;15652751;15688063;15694336;15799966;15814722;15820681;15858711;15870263;15987702;16115877;16156666;16171779;16307923;16401342;16543155;16547496;16547522;16595681;16603398;16628214;16647857;16672363;16682944;16699525;16707496;16715065;16738327;16751101;16751102;16790436;16829951;16829952;16849449;16854980;16868077;16943200;16954532;17007944;17029022;17068149;17081101;17108083;17130289;17132228;17182618;17183367;17220875;17311849;17314102;17332328;17356069;17363902;17434750;17438144;17497243;17510063;17588522;17591695;17592128;17702576;17726030;17785452;17991829;18057259;18093314;18178551;18184961;18200010;18206966;18284575;18316726;18337469;18359941;18508924;18515077;18568018;18662542;18712838;18719106;18775313;18776931;18805092;18826954;18851830;18926707;18948756;19028597;19125153;19135894;19197237;19208625;19208626;19250909;19278658;19289468;19321346;19352404;19410543;19416807;19432818;19452197;19453968;19489725;19584060;19617556;19632994;19723507;19748355;19851334;19874575;19881509;19893624;19910467;19917253;19940261;20061386;20126261;20178365;20185725;20219915;20304918;20347421;20385093;20434986;20525694;20712405;21095583;21115803;21194381;21203937;21235526;21329877;21335549;21396873;21408173;21447816;21463634;21532592;21554508;21617041;21778237;21863050;21931591;21940857;21976670;21980954;22002062;22021426;22045334;22057399;22179575;22286099;22297296;22306028;22371489;22435550;22466964;22537386;2261476;22747494;22848449;22959436;23201271;23313255;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23746843;23912815;23963456;23986495;24076655;24098568;24211586;24235149;24246475;24323043;24366543;24636985;24660806;24662292;24715725;24726323;24726327;24751536;24784582;24793695;24793696;24807418;24865970;24979766;25016021;25030448;25170678;25314029;25349211;25355947;25474007;25502872;25527497;25531226;25538232;25565632;25854684;25936802;26086376;26116755;26138649;26154972;26210183;26216882;26220973;26344099;26344566;26344709;26350214;26365381;26375851;26460955;26632597;26711259;26853435;26900751;26906416;26997266;27030794;27035970;27153775;27222660;27247382;27307491;27458237;27545878;27552911;27565346;27569044;27591049;27597759;27798111;27846572;28065601;28115426;28132843;28218747;28322253;28469175;28506461;28514659;28521612;28611990;28685749;28765278;28787099;28920952;28920954;29153394;29242379;29314611;29393594;29394115;29437277;29493099;29557506;29577978;29642005;29995846;30146158;30293783;30315122;30361438;30410026;30420664;30610225;30988283;31020640;31092671;31217245;31366726;31511692;31844290;31848261;32005965;32099016;32157095;32284348;32296703;32320653;32350084;32387766;32579943;32938616;32983136;33298915;33444648;33469115;33592498;33912179;33936100;34162724;34171305;34229054;34357683;34363755;34416429;34433824;34876703;35051231;35154160;35251023;35318648;35580925;35941131;36010968;36215666;36241641;36284347;36302773;36528027;37059365;37938771;38287189;7531702;7644468;7667287;7719337;7790377;7791754;8119126;8530467;8625414;8653785;8824437;8858165;8893010;8991089;9049422;9065443;9090381;9090382;9090383;9122164;9136927;9380723;9436979;9539740;9653144;9668046;9668159;9790970;9837948;9885206;9887101;9891082", "class_list": "", "function": "Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:15247280, PubMed:15496420, PubMed:18284575, PubMed:20061386, PubMed:21532592, PubMed:28322253). In vitro catalyzes 'Lys-11'-, as well as 'Lys-48'-linked polyubiquitination (PubMed:15247280, PubMed:15496420, PubMed:18284575, PubMed:20061386, PubMed:21532592). Cooperates with the E2 CDC34 and the SCF(FBXW11) E3 ligase complex for the polyubiquitination of NFKBIA leading to its subsequent proteasomal degradation (PubMed:20347421). Acts as an initiator E2, priming the phosphorylated NFKBIA target at positions 'Lys-21' and/or 'Lys-22' with a monoubiquitin (PubMed:10329681). Ubiquitin chain elongation is then performed by CDC34, building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin (PubMed:10329681). Also acts as an initiator E2, in conjunction with RNF8, for the priming of PCNA (PubMed:18948756). Monoubiquitination of PCNA, and its subsequent polyubiquitination, are essential events in the operation of the DNA damage tolerance (DDT) pathway that is activated after DNA damage caused by UV or chemical agents during S-phase (PubMed:18948756). Associates with the BRCA1/BARD1 E3 ligase complex to perform ubiquitination at DNA damage sites following ionizing radiation leading to DNA repair (PubMed:16628214). Targets DAPK3 for ubiquitination which influences promyelocytic leukemia protein nuclear body (PML-NB) formation in the nucleus (PubMed:18515077). In conjunction with the MDM2 and TOPORS E3 ligases, functions ubiquitination of p53/TP53 (PubMed:12646252, PubMed:15280377). In conjunction with the CBL E3 ligase, targets EGFR for polyubiquitination at the plasma membrane as well as during its internalization and transport on endosomes (PubMed:18508924). In conjunction with the STUB1 E3 quality control E3 ligase, ubiquitinates unfolded proteins to catalyze their immediate destruction (PubMed:11743028). Together with RNF135, catalyzes the viral RNA-dependent 'Lys-63'-linked polyubiquitination of RIGI to activate the downstream signaling pathway that leads to interferon beta production (PubMed:28469175). Together with ZNF598, catalyzes ubiquitination of 40S ribosomal proteins in response to ribosome collisions (PubMed:28685749). In cooperation with the GATOR2 complex, catalyzes 'Lys-6'-linked ubiquitination of NPRL2 (PubMed:36528027)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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. This enzyme functions in the ubiquitination of the tumor-suppressor protein p53, which is induced by an E3 ubiquitin-protein ligase. [provided by RefSeq, Jan 2017]., [RefSeq]; UBCH5 Family Members Differentially Impact Stabilization of Mutant p53 via RNF128 Iso1 During Barrett's Progression to Esophageal Adenocarcinoma., [RefSeq, PubMed]; Ubiquitinome Profiling Reveals in Vivo UBE2D3 Targets and Implicates UBE2D3 in Protein Quality Control., [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": 7, "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": "A6NJ93;A6NJB1;A6NM99;P47986;Q6IB88;Q6NXS4;Q8N924", "ec_number_list": "6.2.1.45;2.3.2.24;2.3.2.23;2.3.2.26;2.3.2.27;2.3.2.31;2.7.10.2;2.3.2.-;3.6.5.-;3.6.4.13;4.2.99.18;2.3.2.36;6.2.1.-;2.3.2.34;2.3.2.32;2.7.11.1;3.6.4.-;6.2.1.64;2.3.2.25;1.14.11.29;1.14.11.-", "go_molecular_function": "GO:0005524 ATP binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity;GO:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0036211 protein modification process;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006281 DNA repair;GO:1903955 positive regulation of protein targeting to mitochondrion;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 47.8, "record_id": "P61077-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BY08-1", "uniprot_id": "EBPL_HUMAN", "mass": 23204.0, "length": 206, "protein_name": "Emopamil-binding protein-like", "gene_name": "EBPL", "organism": "Human", "refseq_name": "emopamil-binding protein-like isoform 1", "refseq_ac": "NP_115954", "gene_names_uniprotkb": "EBPL; EBRP; ERP", "gene_names_refseq": "EBPL; EBRP", "protein_names_uniprotkb": "Emopamil-binding protein-like; Emopamil-binding-related protein", "protein_names_refseq": "emopamil binding protein like; emopamil binding related protein, delta8-delta7 sterol isomerase related protein; emopamil-binding protein-like isoform 1; emopamil-binding-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:84650)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;12760743;25418920;26154972;26929215;26992070;28218747;28228285;28832583;28834231;28904123;29393594;29632046;29769354;29786170;30315122;31154438;31530632;31844290;32265295;32357974;32387766;32502341;32938616;33537174;33592498;33912179;34087483;34185709;34357683;35580925;36010968;36241641", "class_list": "", "function": "Does not possess sterol isomerase activity and does not bind sigma ligands., [UniProtKB, PubMed]; Encoded by four exons on human chromosome 13q14.2 covering 30.7 kb, and a partially processed EBPL pseudogene was found on 16q21; expressed ubiquitously and most abundant in liver, lung and kidney, [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": "A6NJ59;Q569H7;Q5JVN2;Q5JVN3;Q5JVN4;Q5JVN5;Q5JVN6", "ec_number_list": "", "go_molecular_function": "GO:0047750 cholestenol delta-isomerase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0016125 sterol metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9BY08-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13011-1", "uniprot_id": "ECH1_HUMAN", "mass": 35816.0, "length": 328, "protein_name": "Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial", "gene_name": "ECH1", "organism": "Human", "refseq_name": "delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial precursor", "refseq_ac": "NP_001389", "gene_names_uniprotkb": "ECH1", "gene_names_refseq": "ECH1; HPXEL", "protein_names_uniprotkb": "Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial; 5.3.3.21", "protein_names_refseq": "delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial precursor; delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial; delta3,5-delta2,4-dienoyl-CoA isomerase; delta3,5-delta2,4-dienoyl-coenzyme A isomerase; dienoyl-CoA isomerase; enoyl Coenzyme A hydratase 1, peroxisomal; enoyl-CoA hydratase 1, peroxisomal; epididymis secretory sperm binding protein; peroxisomal enoyl-CoA hydratase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:1891); (R-HSA-9033241); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 162, "publication_id_list": "10022913;10562279;10673331;11101887;11237011;11546814;11781871;11923310;11931631;12198491;12456682;12559034;12578380;12717447;12885776;14623864;15522782;15545321;15858711;15870080;16115876;16615866;16854980;17007944;17081983;17101804;17297443;17579211;17726030;18359941;18712838;19197237;19208625;19584060;19608861;19632994;19841671;20068231;20178365;21554508;21976670;21980954;22002062;22057399;22262461;22371489;22710082;22747494;22905912;23201127;23783831;23931759;23963456;24235149;24275569;24315374;24366607;24520911;24715725;24865970;25016021;25418920;25538232;25576301;25810538;25854684;25892735;26086376;26138649;26154972;26220973;26344566;26474213;26504172;26758079;26923599;26992070;27496948;27597759;27642048;27920218;28218747;28228285;28377575;28396416;28514659;28521612;28611990;28765278;28787099;28832583;28904123;29242379;29301859;29331515;29393594;29437277;29493099;29557506;29632046;29789417;29932645;30120231;30484775;31217245;31327635;31695197;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33257573;33298915;33592498;33813878;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34509645;34561969;34704252;34943861;35051231;35251023;35254053;35318648;35580925;35870450;36010968;36215666;36241641;36284347;36629048;37938771;38665916;40596516;7558027;7623837;7719337;7790377;8824437;8858165;8991089;9090381;9090382;9090383;9539740;9653144;9668159;9837948", "class_list": "", "function": "Auxiliary enzyme in the beta-oxidation of mono- and polyunsaturated fatty acids (PubMed:26474213). Together with the 2,4-dienoyl-CoA reductase (DECR) and the Enoyl-CoA delta isomerase 1 (ECI1) they allow reentrance of the enoyl-CoA into the beta-oxidation cycle (PubMed:26474213). Able to isomerize 3-trans,5-cis-dienoyl-CoA (3E,5Z-dienoyl-CoA) to 2-trans,4-trans-dienoyl-CoA (2E,4E-dienoyl-CoA), a crucial step in the beta-oxidation of unsaturated fatty acids with double bonds at odd position (By similarity) (PubMed:26474213). Based on its established catalytic mechanism, it is predicted to act also on other fatty acids besides those tested experimentally (Probable)., [UniProtKB, UniProtKB, PubMed]; Enoyl coenzyme A hydratase 1 alleviates nonalcoholic steatohepatitis in mice by suppressing hepatic ferroptosis., [RefSeq, PubMed]; Polymorphism of delta3,5-delta2,4-dienoyl-coenzyme A isomerase (the ECH1 gene product protein) in human striated muscle tissue, [RefSeq, PubMed]; Possible roles for the ECH1 protein product in peroxisomal beta-oxidation are discussed., [RefSeq, PubMed]; This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. [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": 5, "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": "A8K745;Q8WVX0;Q96EZ9", "ec_number_list": "3.6.1.-;3.6.1.77;3.1.2.2;3.1.2.27;3.1.2.1;3.1.2.11;3.1.2.3;3.1.2.5;6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;2.3.1.42;1.3.3.6;2.3.2.27;2.3.3.1;7.1.1.2;1.1.1.42;3.6.4.10;1.4.1.3;1.11.1.6;1.2.1.3;6.4.1.3;7.1.2.2;4.2.1.2;1.2.4.1;1.8.1.4;5.6.1.7;2.3.1.168;2.3.1.-;2.3.1.37;3.4.24.56;1.4.3.3;2.6.1.51;2.6.1.44;2.3.1.176;2.3.1.16;2.3.1.155;4.98.1.1;1.1.1.38;2.3.1.9;2.3.2.36;1.2.1.36;1.7.1.-;1.2.1.28;1.14.13.39;4.1.3.4;3.4.21.53;1.1.1.37;5.3.3.8;2.3.1.137;2.3.1.7;1.3.8.1;1.3.8.5;1.1.1.41;2.3.3.10;2.8.3.5;3.5.3.1;1.2.4.2;1.1.1.30;5.3.3.21;2.3.1.65;2.7.11.2;2.7.11.-;3.4.21.92;1.1.1.35;3.4.21.-;2.7.1.23;1.5.3.13;6.2.1.4;5.6.2.3;1.4.3.1;1.1.1.62;1.1.1.239;1.1.1.178;1.1.1.53;1.1.1.159;4.2.1.3;1.1.1.184;1.3.1.38;6.1.1.5;1.3.1.124;2.3.1.41;1.1.3.15;1.5.3.1;1.5.3.7;5.1.99.4;4.1.2.63;1.2.3.5;2.5.1.18", "go_molecular_function": "GO:0051750 delta(3,5)-delta(2,4)-dienoyl-CoA isomerase activity;GO:0016853 isomerase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005777 peroxisome;GO:0005782 peroxisomal matrix;GO:0005829 cytosol", "go_biological_process": "GO:0006635 fatty acid beta-oxidation", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q13011-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75694-1", "uniprot_id": "NU155_HUMAN", "mass": 155199.0, "length": 1391, "protein_name": "Nuclear pore complex protein Nup155", "gene_name": "NUP155", "organism": "Human", "refseq_name": "nuclear pore complex protein Nup155 isoform 2", "refseq_ac": "NP_004289", "gene_names_uniprotkb": "NUP155; KIAA0791", "gene_names_refseq": "ATFB15; N155; NUP155", "protein_names_uniprotkb": "Nuclear pore complex protein Nup155; 155 kDa nucleoporin; Nucleoporin Nup155", "protein_names_refseq": "155 kDa nucleoporin; nuclear pore complex protein Nup155 isoform 2; nuclear pore complex protein Nup155; nucleoporin 155kDa; nucleoporin 155kD", "tax_id": 9606, "disease": "familial atrial fibrillation (Disease Ontology:DOID:0050650)", "pathway": " (hsa:9631); (R-HSA-1169408); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-165054); (R-HSA-168271); (R-HSA-168276); (R-HSA-168325); (R-HSA-168333); (R-HSA-170822); (R-HSA-180746); (R-HSA-180910); (R-HSA-1855170); (R-HSA-1855196); (R-HSA-1855229); (R-HSA-191859); (R-HSA-3108214); (R-HSA-3232142); (R-HSA-3301854); (R-HSA-3371453); (R-HSA-4085377); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4615885); (R-HSA-5619107); (R-HSA-6784531); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9615933); (R-HSA-9705671)", "pathway_count": 32, "publication_count": 502, "publication_id_list": 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"class_list": "", "function": "Essential component of nuclear pore complex. Could be essessential for embryogenesis. Nucleoporins may be involved both in binding and translocating proteins during nucleocytoplasmic transport., [UniProtKB, UniProtKB]; Lamin A/C mutation p.Arg399Cys weakens the interaction between nuclear lamina (lamin A/C) and the nuclear pore complex (NUP155), leading to the development of atrial fibrillation., [RefSeq, PubMed]; Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013]., [RefSeq]; Study revealed that NUP155 controls mRNA translation CDKN1A, a key mediator of the p53 response. 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": 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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q9UBE9;Q9UFL5", "ec_number_list": "", "go_molecular_function": "GO:0017056 structural constituent of nuclear pore", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005829 cytosol;GO:0016020 membrane;GO:0031965 nuclear membrane;GO:0044611 nuclear pore inner ring", "go_biological_process": "GO:0006913 nucleocytoplasmic transport;GO:0006998 nuclear envelope organization;GO:0051028 mRNA transport;GO:0036228 protein localization to nuclear inner membrane;GO:0006405 RNA export from nucleus", "synthesized_glycan_count": 0, "hit_score": 50.9, "record_id": "O75694-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NP87-1", "uniprot_id": "DPOLM_HUMAN", "mass": 54816.0, "length": 494, "protein_name": "DNA-directed DNA/RNA polymerase mu", "gene_name": "POLM", "organism": "Human", "refseq_name": "DNA-directed DNA/RNA polymerase mu isoform 2", "refseq_ac": "NP_001271259", "gene_names_uniprotkb": "POLM; polmu", "gene_names_refseq": "POLM; Pol Mu; Tdt-N", "protein_names_uniprotkb": "DNA-directed DNA/RNA polymerase mu; 2.7.7.7; Pol Mu; Terminal transferase", "protein_names_refseq": "DNA-directed DNA/RNA polymerase mu isoform 2; DNA-directed DNA/RNA polymerase mu; Pol iota; polymerase (DNA) mu; polymerase (DNA-directed), mu; terminal transferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:27434); (R-HSA-5693571)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "10572166;10747040;10757784;10982892;11237011;11493912;11604075;11702069;11955432;11972346;11974916;12023295;12077346;12186630;12231622;12509254;12640116;12888504;12897153;12947387;14561766;15177042;15451442;15468306;15574327;15723659;16061182;16093244;16439204;16439205;16600297;16874298;16914548;17290226;17470781;17483519;17915942;18046455;18397950;18669648;19413330;19505854;19664994;19690332;22179609;22529269;23186163;23306437;23333306;23481700;23505375;23727112;23933132;24236237;24275569;25512557;25645385;25818648;25841101;25892735;26154972;26240373;27600516;27893789;27920218;28228285;28832583;28834231;28904123;28973441;29242379;29557506;29632711;29769354;30310068;30315122;30410026;31092671;31154438;31530632;31844290;31998317;32157095;32357974;32387766;32938616;33087269;33141586;33298915;33600564;33717175;33968037;34145298;34171305;34932366;35051231;36284347;36581221;8422676;9259561;9430729;9512523;9826654", "class_list": "", "function": "Catalyzes template-directed nucleotide addition during gap filling at DNA double-strand breaks (PubMed:10747040, PubMed:10982892, PubMed:12640116, PubMed:12888504, PubMed:17483519, PubMed:17915942, PubMed:26240373). Functions as a gap-filling polymerase involved in repair of DNA double-strand breaks by non-homologous end joining (NHEJ) (PubMed:12640116, PubMed:17915942, PubMed:26240373). Displays reduced sugar discrimination, incorporating deoxyribonucleotides and ribonucleotides with similar efficiency on DNA primer strands, and is able to polymerize nucleotides on RNA-terminated primer strands in vitro (PubMed:12640116, PubMed:12888504). Participates in immunoglobulin (Ig) light chain gene rearrangement in V(D)J recombination (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; DNA Polymerase and dRP-lyase activities of polymorphic variants of human Pol iota., [RefSeq, PubMed]; DNA polymerase mu performs DNA synthesis at a AAF lesion, [RefSeq, PubMed]; DNA polymerase mu: An inflexible scaffold for substrate flexibility. Review article, [RefSeq, PubMed]; Mechanism of genome instability mediated by human DNA polymerase mu misincorporation. Publication Status: Online-Only, [RefSeq, PubMed]; Pol mu-mediated deoxyguanosine triphosphate mismatch insertion opposite template base T coupled with ligation could be a feature of mutation prone nonhomologous end joining during double-strand break repair. Publication Status: Online-Only, [RefSeq, PubMed]; Polmu point mutations affecting 2 conserved adjacent residues located in the 8 kDa domain, G174S and R175H, limit the efficiency of accurate NHEJ by Polmu in vitro and in vivo due to decreased template dependency during NHEJ, which renders the error-rate of the mutants higher due to the ability of Polmu to randomly incorporate nucleotides at DSBs., [RefSeq, PubMed]; Role in DNA repair Review article, [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": 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": "D3DVK4;Q6P5X8;Q86WQ9", "ec_number_list": "2.7.7.49;3.1.21.-;2.7.7.7;5.6.2.4;2.7.7.31;4.2.99.18;4.2.99.-;3.1.26.4;3.4.23.50;3.1.11.-;6.5.1.1;2.7.11.1;2.7.7.102;3.1.-.-;2.7.7.-", "go_molecular_function": "GO:0003887 DNA-directed DNA polymerase activity;GO:0003677 DNA binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006310 DNA recombination;GO:0006303 double-strand break repair via nonhomologous end joining;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q9NP87-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UK85-1", "uniprot_id": "DKKL1_HUMAN", "mass": 27007.0, "length": 242, "protein_name": "Dickkopf-like protein 1", "gene_name": "DKKL1", "organism": "Human", "refseq_name": "dickkopf-like protein 1 isoform 2 precursor", "refseq_ac": "NP_001184230", "gene_names_uniprotkb": "DKKL1; PRO1429; SGY1", "gene_names_refseq": "CT34; DKKL1; SGY-1; SGY1; SGY", "protein_names_uniprotkb": "Dickkopf-like protein 1; CT34; Cancer/testis antigen 34; Protein soggy-1; SGY-1", "protein_names_refseq": "cancer/testis antigen 34; dickkopf-like 1; dickkopf-like protein 1 isoform 2 precursor; dickkopf-like protein 1; protein soggy-1; soggy-1; soggy; testicular secretory protein Li 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:27120)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10.1101/2023.09.13.557529;10570958;11237011;12975309;17081983;22817830;24190897;24715725;24909558;27635108;27826023;29632046;32350084;33281184;35251023", "class_list": "", "function": "DKKL was overexpressed in colorectal cancer tissue compared with healthy colon. DKKL expression positively correlated with colorectal cancer progression., [RefSeq, PubMed]; Findings suggest that Dkk-3 plays a role in the regulation of cell interactions during retinoic acid-induced neuronal differentiation; effect on apoptosis was also observed upon expression of the related protein Dkkl-1, [RefSeq, PubMed]; Involved in fertilization by facilitating sperm penetration of the zona pellucida. May promote spermatocyte apoptosis, thereby limiting sperm production. In adults, may reduce testosterone synthesis in Leydig cells. Is not essential either for development or fertility., [UniProtKB, UniProtKB]; Previously unreported alternative splicing patterns in the genes ZNF419 and DKKL1, [RefSeq, PubMed]; The Clinical Significance of Dickkopf Wnt Signaling Pathway Inhibitor Gene Family in Head and Neck Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has low sequence similarity to the dickkopf-3 protein. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010]., [RefSeq]; Unliganded VDR upregulates the expression of hairless, the gene product of which acts as a downstream comodulator to feedback-repress DKKL1 and SOSTDC1. 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": 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": 11, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0048019 receptor antagonist activity;GO:0039706 co-receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0007341 penetration of zona pellucida;GO:2000225 negative regulation of testosterone biosynthetic process;GO:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9UK85-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P43004-1", "uniprot_id": "EAA2_HUMAN", "mass": 62104.0, "length": 574, "protein_name": "Excitatory amino acid transporter 2", "gene_name": "SLC1A2", "organism": "Human", "refseq_name": "excitatory amino acid transporter 2 isoform 2", "refseq_ac": "NP_001182657", "gene_names_uniprotkb": "SLC1A2; EAAT2; GLT1", "gene_names_refseq": "DEE41; EAAT2; EIEE41; GLT-1; GLT1; HBGT; SLC1A2", "protein_names_uniprotkb": "Excitatory amino acid transporter 2; Glutamate/aspartate transporter II; Sodium-dependent glutamate/aspartate transporter 2; Solute carrier family 1 member 2", "protein_names_refseq": "excitatory amino acid transporter 2 isoform 2; excitatory amino acid transporter 2; excitotoxic amino acid transporter 2; glutamate transporter-1; glutamate/aspartate transporter II; human brain glutamate transporter; sodium-dependent glutamate/aspartate transporter 2; solute carrier family 1 (glial high affinity glutamate transporter), member 2", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); developmental and epileptic encephalopathy 41 (Disease Ontology:DOID:0080442); Alzheimer's disease (Disease Ontology:DOID:10652); opioid abuse (Disease Ontology:DOID:11206); Huntington's disease (Disease Ontology:DOID:12858); neurodegenerative disease (Disease Ontology:DOID:1289); alcohol use disorder (Disease Ontology:DOID:1574); drug psychosis (Disease Ontology:DOID:1742); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); middle cerebral artery infarction (Disease Ontology:DOID:3525); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:6506); (R-HSA-210455); (R-HSA-210500); (R-HSA-9958863)", "pathway_count": 4, "publication_count": 51, "publication_id_list": "10440375;10620514;11001057;11015561;11031254;11237011;11242046;11756489;12519779;12950454;14506254;14730707;15265858;15483603;15935055;16116111;16516348;16616430;17478680;17891149;17989281;18215623;20688910;24578174;26483543;26690923;27476654;28777935;29557506;31154438;3214421;32161166;33936100;34433824;35051231;35580925;35953475;36173507;36215666;37178383;37938771;38086219;38690938;7521911;7522567;7791878;7859077;8172925;9108121;9463476;9701566", "class_list": "", "function": "Hyperglycemia impairs EAAT2 glutamate transporter trafficking and glutamate clearance in islets of Langerhans: implications for type 2 diabetes pathogenesis and treatment., [RefSeq, PubMed]; Leat-associated seizures the possible role of EAAT2, pyruvate carboxylase and glutamine synthetase., [RefSeq, PubMed]; Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:14506254, PubMed:15265858, PubMed:26690923, PubMed:7521911). 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:14506254). 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:14506254). Essential for the rapid removal of released glutamate from the synaptic cleft, and for terminating the postsynaptic action of glutamate (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Structural insights into inhibitory mechanism of human excitatory amino acid transporter EAAT2. Publication Status: Online-Only, [RefSeq, PubMed]; The Regulation of GLT-1 Degradation Pathway by SIRT4., [RefSeq, PubMed]; The role of excitatory amino acid transporter 2 (EAAT2) in epilepsy and other neurological disorders. Review article, [RefSeq, PubMed]; This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Improper regulation of this gene is thought to be associated with several neurological disorders. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "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": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "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": "B4DQE9;Q14417;Q541G6;U3KQQ4", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0008509 monoatomic anion transmembrane transporter activity;GO:0015175 neutral L-amino acid transmembrane transporter activity;GO:0005314 high-affinity L-glutamate transmembrane transporter activity;GO:0015501 glutamate:sodium symporter activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0006750 glutathione biosynthetic process;GO:0007268 chemical synaptic transmission;GO:0006865 amino acid transport;GO:0070207 protein homotrimerization;GO:0070633 transepithelial transport", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "P43004-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UL01-1", "uniprot_id": "DSE_HUMAN", "mass": 109773.0, "length": 958, "protein_name": "Dermatan-sulfate epimerase", "gene_name": "DSE", "organism": "Human", "refseq_name": "dermatan-sulfate epimerase isoform a precursor", "refseq_ac": "NP_001074445", "gene_names_uniprotkb": "DSE; SART2", "gene_names_refseq": "DS-epi1; DSEPI; DSEP; DSE; EDSMC2; SART-2; SART2", "protein_names_uniprotkb": "Dermatan-sulfate epimerase; 5.1.3.19; Chondroitin-glucuronate 5-epimerase; DS epimerase; SART-2; Squamous cell carcinoma antigen recognized by T-cells 2", "protein_names_refseq": "DS epimerase; chondroitin-glucuronate 5-epimerase; dermatan-sulfate epimerase isoform a precursor; squamous cell carcinoma antigen recognized by T-cells 2", "tax_id": 9606, "disease": "Ehlers-Danlos syndrome musculocontractural type 2 (Disease Ontology:DOID:0080737)", "pathway": " (hsa:29940); (R-HSA-2022923)", "pathway_count": 2, "publication_count": 89, "publication_id_list": "10.1101/2023.09.13.557529;10187838;10679095;11237011;11414686;11470797;12512856;12556911;12753654;12874280;12886526;15129427;15201997;15378520;16505484;17440952;18077418;19004833;19188366;19661164;20128819;20533528;20878951;21932426;23704329;24190977;24992895;25418920;25703627;25880248;25892735;26811146;26992070;27549314;27703488;27920218;28063628;28188670;28218747;28228285;28416261;28467828;28514659;28622427;28832583;28904123;29242379;29393594;29437277;29632046;29790264;29864158;29938870;29976758;30192525;30315122;30379171;30410026;30429286;31092671;31154438;31217245;31530632;31844290;31848261;31972438;32157095;32161166;32236612;32350084;32357974;32938616;32983136;33298915;33437477;33592498;33717175;33912179;33968037;34357683;34932366;35051231;35154160;35251023;35289036;35580925;36010968;36241641;7092807", "class_list": "glycogene", "function": "Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues. Plays an important role in the biosynthesis of the glycosaminoglycan/mucopolysaccharide dermatan sulfate., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; DS-epi1, DS-epi2, and D4ST1 form homomers and are all part of a hetero-oligomeric complex where D4ST1 directly interacts with DS-epi1, but not with DS-epi2. The cooperation of DS-epi1 with D4ST1 may therefore explain the processive mode of the formation of iduronic acid blocks., [RefSeq, PubMed]; Dermatan sulfate epimerase 1 expression and mislocalization may interfere with dermatan sulfate synthesis and breast cancer cell growth., [RefSeq, PubMed]; Study identified a homozygous DSE missense mutation (c.803C>T, p.S268L) in a male child with musculocontractural type of Ehlers-Danlos syndrome; data indicate mutation affects the epimerase activity, resulting in reduced dermatan sulfate (DS) biosynthesis and an increased synthesis or an accumulation or reduced conversion of chondroitin sulfate, [RefSeq, PubMed]; Study showed that DSE is frequently upregulated in human glioma tissue and cell lines and associated with a worse tumor grade and poor overall survival. Its knockdown suppresses malignant phenotypes, whereas DSE overexpression enhances glioma cell malignancy, both in vitro and in vivo. Mechanically, DSE modulates HB-EGF-induced EGFR/ErbB2 activity and downstream signaling. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. Mutations in this gene cause inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9, and a paralogous gene exists on chromosome 18. [provided by RefSeq, Apr 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": 4, "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": 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": 2, "reported_phosphosites": 1, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 1037, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q5R3K6", "ec_number_list": "5.1.-.-;5.1.3.19", "go_molecular_function": "GO:0046872 metal ion binding;GO:0047757 chondroitin-glucuronate 5-epimerase activity;GO:0016853 isomerase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane;GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "GO:0050655 dermatan sulfate proteoglycan metabolic process;GO:0015012 heparan sulfate proteoglycan biosynthetic process;GO:0050651 dermatan sulfate proteoglycan biosynthetic process;GO:0050654 chondroitin sulfate proteoglycan metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q9UL01-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96BY6-1", "uniprot_id": "DOC10_HUMAN", "mass": 249531.0, "length": 2186, "protein_name": "Dedicator of cytokinesis protein 10", "gene_name": "DOCK10", "organism": "Human", "refseq_name": "dedicator of cytokinesis protein 10 isoform 2", "refseq_ac": "NP_001277192", "gene_names_uniprotkb": "DOCK10; KIAA0694; ZIZ3", "gene_names_refseq": "DOCK10; DRIP2; Nbla10300; ZIZ3", "protein_names_uniprotkb": "Dedicator of cytokinesis protein 10; Zizimin-3", "protein_names_refseq": "dedicator of cytokinesis protein 10 isoform 2; dopamine receptor interacting protein 2; zizimin3", "tax_id": 9606, "disease": "", "pathway": " (hsa:55619); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013423); (R-HSA-983231)", "pathway_count": 6, "publication_count": 398, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10699171;10699464;10724160;10847683;10873802;10958683;11007481;11042108;11058585;11062261;11085924;11145705;11149925;11230166;11237011;11242053;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11707441;11744692;11751636;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11895428;11912491;11919634;11948177;11950885;11956649;11961559;12032298;12071859;12093360;12096337;12134158;12172552;12195014;12221096;12351724;12427746;12432077;12464619;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15020713;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15169870;15247287;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15542837;15579468;15601624;15611138;15710388;15728722;15814684;15850391;15858067;15897194;16002401;16054028;16081809;16112081;16116428;16184169;16217026;16243035;16243036;1630448;16473593;16492808;16507994;16519628;1660188;16630611;16636067;16702231;16714282;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17027967;17060455;17064668;17077126;17081983;17145773;17158234;17196961;17214551;17244649;17269730;17583407;17599059;17698854;17702745;17765681;17804252;17932950;17976533;18006505;18045877;18056264;18077418;18088087;18191593;18218625;18249095;18347018;18363964;18396277;18426980;18499258;18578522;18653540;18662984;18697831;18786931;18835169;18838382;18929667;19269969;19293402;19494238;19534724;19605563;19608861;19651622;19673492;19690332;19713215;19934221;20400958;20460433;20530532;20627800;20679435;20810653;21148482;21151158;21378159;21454492;21514340;21542010;21565175;21613211;21685891;21730051;21865595;218813;21989057;22004470;22096251;22298643;22407364;22461490;22475431;22571869;22608513;22734669;22970203;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23707487;23718289;23757206;23870057;23940355;24086303;24259668;24335996;24352656;24584464;24623723;24715725;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25505266;25576301;25645385;25704760;25721503;25795300;25862245;25880248;25892735;25963737;26016997;26129894;26154972;26299518;26529257;26598554;26628301;26845023;26887924;26992070;27096001;27117132;27145964;27216196;27397612;27481945;27555588;27566826;27600516;27713499;27798618;27806292;27846572;27862975;28028151;28063628;28114311;28196833;28228285;28356423;28514659;28649982;28825699;28832583;28834231;28855257;28860633;28904123;29089502;29242379;29351928;29358323;29382922;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30061681;30315122;30379171;30728292;30853411;31217245;31389670;31844290;31871319;32112301;32157095;32203420;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34078123;3409321;34171305;34509645;34932366;35051231;35494241;35580925;36010968;36284347;36581221;37217939;40307207;40914422;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662638;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8816476;8939998;8990121;8994827;9013646;9065479;9099726;9113980;9230307;9252344;9268338;9305890;9326583;9331217;9405671;9422515;9438849;9490638;9497316;9582072;9659915;9670022;9705280;9792683;9822598;9829970;9843499;9846874;9927674;9988689", "class_list": "", "function": "Dock10 could represent a point of convergence for interleukin 4 signalling and small Rho GTPase function in B cells., [RefSeq, PubMed]; Expression of DOCK10.1 protein revealed with a specific antiserum: insights into regulation of first exon isoforms of DOCK10., [RefSeq, PubMed]; Guanine nucleotide-exchange factor (GEF) that activates CDC42 and RAC1 by exchanging bound GDP for free GTP. Essential for dendritic spine morphogenesis in Purkinje cells and in hippocampal neurons, via a CDC42-mediated pathway. Sustains B-cell lymphopoiesis in secondary lymphoid tissues and regulates FCER2/CD23 expression., [UniProtKB, UniProtKB]; Silencing DOCK10 expression in melanoma promotes conversion to mesenchymal migration and is associated with decreased MLC2 phosphorylation and increased Rac1 activation., [RefSeq, PubMed]; T cells and B cells exhibited inverse expression patterns of the DOCK10 isoforms, [RefSeq, PubMed]; This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family are guanosine nucleotide exchange factors for Rho GTPases and defined by the presence of conserved DOCK-homology regions. The encoded protein belongs to the D (or Zizimin) subfamily of DOCK proteins, which also contain an N-terminal pleckstrin homology domain. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2014]., [RefSeq]; We identified the transcription factor FoxO1 as a potential mediator of ERK2-induced EMT, and thus we investigated the mechanism by which ERK2 regulates FoxO1. Additionally, our analysis revealed that ERK2 induced the expression of Dock10, a Rac1/Cdc42 GEF, during EMT, [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": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 86, "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": "B3FL70;O75178;Q68DA4;Q9NW06;Q9NXI8", "ec_number_list": "", "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0043547 positive regulation of GTPase activity;GO:0007264 small GTPase-mediated signal transduction;GO:0035023 regulation of Rho protein signal transduction;GO:0030334 regulation of cell migration;GO:0060997 dendritic spine morphogenesis", "synthesized_glycan_count": 0, "hit_score": 40.4, "record_id": "Q96BY6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q18PE1-1", "uniprot_id": "DOK7_HUMAN", "mass": 53097.0, "length": 504, "protein_name": "Protein Dok-7", "gene_name": "DOK7", "organism": "Human", "refseq_name": "protein Dok-7 isoform 2", "refseq_ac": "NP_001158145", "gene_names_uniprotkb": "DOK7; C4orf25", "gene_names_refseq": "C4orf25; CMS10; CMS1B; DOK7", "protein_names_uniprotkb": "Protein Dok-7; Downstream of tyrosine kinase 7", "protein_names_refseq": "downstream of tyrosine kinase 7; protein Dok-7 isoform 2; protein Dok-7", "tax_id": 9606, "disease": "congenital myasthenic syndrome 10 (Disease Ontology:DOID:0110668); fetal akinesia deformation sequence syndrome 3 (Disease Ontology:DOID:0111376)", "pathway": " (hsa:285489)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;16794080;16917026;17439981;19261599;20012313;20603078;22661499;28832583;29242379;29557506;32387766;32502341;32687671;32983136;33392160;33592498;34509645;36579833;37611271;37646703;38095644;38253038", "class_list": "", "function": "A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells., [RefSeq, PubMed]; Congenital Myasthenic Syndrome Caused by DOK7 Mutation in a Quinquagenarian Male with Calf Hypertrophy., [RefSeq, PubMed]; DOK7, a target of miR-299-5p, suppresses the progression of bladder cancer., [RefSeq, PubMed]; Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature. Review article, [RefSeq, PubMed]; Dok-7 is essential for neuromuscular synaptogenesis through its interaction with MuSK, [RefSeq, PubMed]; Findings showed that recessive inheritance of mutations in Dok-7, which result in a defective structure of the neuromuscular junction, is a cause of congenital myasthenic syndromes with proximal muscle weakness, [RefSeq, PubMed]; Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK., [UniProtKB, PubMed]; Study of patients with congenital myasthenic syndromes with mutations in DOK7; none with DOK7 mutations had tubular aggregates in muscle biopsy, implying 'limb-girdle myasthenia with tubular aggregates' may be distinct from CMS caused by DOK7 mutations, [RefSeq, PubMed]; The crystal structure of the Dok7 PH-PTB domains in complex with a phosphopeptide representing the Dok7-binding site on MuSK, is presented., [RefSeq, PubMed]; The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 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": 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": 4, "reported_glycation": 0, "reported_snv": 24, "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": "A2A499;A2RRD4;E9PB56;Q6P6A6;Q86XG5;Q8N2J3;Q8NBC1", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0035591 signaling adaptor activity;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0031594 neuromuscular junction;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0007528 neuromuscular junction development;GO:0061098 positive regulation of protein tyrosine kinase activity;GO:0035022 positive regulation of Rac protein signal transduction;GO:0007167 enzyme-linked receptor protein signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q18PE1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14638-1", "uniprot_id": "ENPP3_HUMAN", "mass": 100124.0, "length": 875, "protein_name": "Ectonucleotide pyrophosphatase/phosphodiesterase family member 3", "gene_name": "ENPP3", "organism": "Human", "refseq_name": "ectonucleotide pyrophosphatase/phosphodiesterase family member 3", "refseq_ac": "NP_005012", "gene_names_uniprotkb": "ENPP3; PDNP3", "gene_names_refseq": "B10; CD203c; ENPP3; NPP3; PD-IBETA; PDNP3", "protein_names_uniprotkb": "Ectonucleotide pyrophosphatase/phosphodiesterase family member 3; 3.1.4.1; 3.6.1.-; 3.6.1.9; Alkaline phosphodiesterase I; Dinucleoside polyphosphatase; E-NPP 3; NPP3; NPPase; Nucleotide diphosphatase; Nucleotide pyrophosphatase; PD-Ibeta; Phosphodiesterase I beta; Phosphodiesterase I/nucleotide pyrophosphatase 3", "protein_names_refseq": "NPPase; alkaline phosphodiesterase I; dJ1005H11.3 (phosphodiesterase I/nucleotide pyrophosphatase 3); dJ914N13.3 (phosphodiesterase I/nucleotide pyrophosphatase 3); dinucleoside polyphosphatase; ectonucleotide pyrophosphatase/phosphodiesterase family member 3; gp130RB13-6; nucleotide diphosphatase; phosphodiesterase I/nucleotide pyrophosphatase 3; phosphodiesterase-I beta", "tax_id": 9606, "disease": "sleeping sickness (Disease Ontology:DOID:10112); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5169); (R-HSA-199220)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10.1101/2023.09.13.557529;10329687;10334869;10567687;11158296;11237011;11342463;12757929;12815048;12846830;15031605;15072822;17242360;19429682;21183659;24190977;27322068;29314611;29493099;29557506;29717535;31004344;32234503;33674191;34650557;35051231;36611797;36983025;37074911;38149831;38749434;8934567;9344668;9516450", "class_list": "", "function": "Activated steady status and distinctive FcepsilonRI-mediated responsiveness in basophils of atopic dermatitis., [RefSeq, PubMed]; Hydrolase that metabolizes extracellular nucleotides, including ATP, GTP, UTP and CTP (PubMed:29717535, PubMed:9344668). Also hydrolyzes extracellular 2',3'-cGAMP (cyclic GMP-AMP), a second messenger that activates TMEM173/STING and triggers type-I interferon production, and is therefore involved in the regulation of innate immune response (PubMed:38749434). 2',3'-cGAMP appears to be further processed to GMP, AMP and inorganic phosphate (PubMed:38749434). Limits mast cells and basophils response during inflammation and during the chronic phases of allergic responses by eliminating extracellular ATP, a signaling molecule activating these cells in an autocrine manner. Metabolizes extracellular ATP in the lumen of the small intestine, and thereby prevents ATP-induced apoptosis of intestinal plasmacytoid dendritic cells (By similarity). Has a broad specificity and can also hydrolyze UDP-GlcNAc into UMP and GlcNAc-1-phosphate and potentially several other intracellular nucleotide sugars, including UDP-GalNAc, CMP-NeuAc, GDP-Fuc, and UDP-GlcA. Thereby, could modulate glycan biosynthesis and protein glycosylation (By similarity). Can hydrolyze extracellular dinucleoside polyphosphates, including the vasoactive adenosine polyphosphates as well (PubMed:12846830). In addition, displays an alkaline phosphodiesterase activity in vitro (PubMed:11342463)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Hypomethylation of the ENPP3 promoter region contributes to the occurrence and development of ovarian endometriosis via the AKT/mTOR/4EBP1 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of CD203c as a New Basophil-Specific Flow-Marker in Ph[+] Chronic Myeloid Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Serum CD203c+ Extracellular Vesicle Serves as a Novel Diagnostic and Prognostic Biomarker for Succinylated Gelatin Induced Perioperative Hypersensitive Reaction. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [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": 12, "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": 12, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 12, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 4, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 2, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q5JTL3", "ec_number_list": "3.6.1.-;3.1.4.1;3.6.1.9;2.1.1.-;3.6.1.59;3.6.1.52;3.6.1.62;3.6.1.10;3.6.1.61;3.1.3.1;3.9.1.1;3.1.3.5;3.1.3.91;3.1.3.89;3.1.3.99;3.1.3.35;3.6.1.29;3.9.1.-;2.7.7.51;3.6.2.1;2.7.1.77;3.6.1.17;3.1.4.39;3.1.4.4;3.6.1.60;3.6.1.68;3.6.1.76", "go_molecular_function": "GO:0034432 bis(5'-adenosyl)-pentaphosphatase activity;GO:0008270 zinc ion binding;GO:0005509 calcium ion binding;GO:0036219 GTP diphosphatase activity;GO:0047693 ATP diphosphatase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0050728 negative regulation of inflammatory response;GO:0006796 phosphate-containing compound metabolic process;GO:0055062 phosphate ion homeostasis;GO:0046034 ATP metabolic process;GO:0009143 nucleoside triphosphate catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "O14638-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WU90-1", "uniprot_id": "ZC3HF_HUMAN", "mass": 48602.0, "length": 426, "protein_name": "Zinc finger CCCH domain-containing protein 15", "gene_name": "ZC3H15", "organism": "Human", "refseq_name": "zinc finger CCCH domain-containing protein 15", "refseq_ac": "NP_060941", "gene_names_uniprotkb": "ZC3H15; DFRP1; HSPC303; HT010; LEREPO4; MSTP012; PP730", "gene_names_refseq": "DFRP1; HT010; LEREPO4; MSTP012; ZC3H15", "protein_names_uniprotkb": "Zinc finger CCCH domain-containing protein 15; DRG family-regulatory protein 1; Likely ortholog of mouse immediate early response erythropoietin 4", "protein_names_refseq": "DRG family-regulatory protein 1; likely ortholog of mouse immediate early response erythropoietin 4; zinc finger CCCH domain-containing protein 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:55854); (R-HSA-9629569)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10931946;11237011;1378441;15498874;15676025;17081983;17947579;18212344;18452278;1856229;19574390;19651622;19690332;19819225;20068231;20684070;20925576;21060799;21406692;22851697;23103944;23186163;23301498;23303181;23711155;24100311;24486019;24550447;24550462;24550463;24715725;25728928;25810538;25880248;26154972;26992070;27846572;27862975;27920218;28218747;28228285;28467828;28510447;28649982;28832583;28834231;28855639;28904123;29242379;29314611;29393594;29437277;29493099;29557506;29563586;29914368;29915238;30315122;30410026;30429286;30833945;31154438;31217245;31530632;31844290;31998317;32157095;32350084;32357974;32387766;32938616;32983136;33141586;33214551;33298915;33592498;33633747;33717175;33936100;33968037;33981976;34171305;34229054;34509645;34988227;35027542;35051231;35154160;35251023;35580925;36010968;37217939;37612136;40473212;40914422;6688526", "class_list": "", "function": "Down-regulation of LEREPO4 expression caused a significant inhibition of HIV replication, [RefSeq, PubMed]; Protects DRG1 from proteolytic degradation (PubMed:19819225). Stimulates DRG1 GTPase activity likely by increasing the affinity for the potassium ions (PubMed:23711155)., [UniProtKB, PubMed, PubMed]; ZC3H15 Correlates with a Poor Prognosis and Tumor Progression in Melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; ZC3H15 promotes glioblastoma progression through regulating EGFR stability. 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": 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": "B4DMW2;D3DPG7;Q5QTQ4;Q8WZ06;Q9NUZ3;Q9NZ37;Q9P079", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0043547 positive regulation of GTPase activity;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q8WU90-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14258-1", "uniprot_id": "TRI25_HUMAN", "mass": 70973.0, "length": 630, "protein_name": "E3 ubiquitin/ISG15 ligase TRIM25", "gene_name": "TRIM25", "organism": "Human", "refseq_name": "E3 ubiquitin/ISG15 ligase TRIM25", "refseq_ac": "NP_005073", "gene_names_uniprotkb": "TRIM25; EFP; RNF147; ZNF147", "gene_names_refseq": "EFP; RNF147; TRIM25; Z147; ZNF147", "protein_names_uniprotkb": "E3 ubiquitin/ISG15 ligase TRIM25; 2.3.2.27; 6.3.2.n3; Estrogen-responsive finger protein; RING finger protein 147; RING-type E3 ubiquitin transferase TRIM25; RING-type E3 ubiquitin transferase; Tripartite motif-containing protein 25; Ubiquitin/ISG15-conjugating enzyme TRIM25; Zinc finger protein 147", "protein_names_refseq": "E3 ubiquitin/ISG15 ligase TRIM25; RING finger protein 147; RING-type E3 ubiquitin transferase TRIM25; tripartite motif protein TRIM25; tripartite motif-containing protein 25; ubiquitin/ISG15-conjugating enzyme TRIM25; zinc finger protein 147 (estrogen-responsive finger protein); zinc finger protein-147", "tax_id": 9606, "disease": "", "pathway": " (hsa:7706); (R-HSA-1169408); (R-HSA-168928); (R-HSA-5656169); (R-HSA-5689896); (R-HSA-877300); (R-HSA-918233); (R-HSA-933541); (R-HSA-933542); (R-HSA-933543); (R-HSA-936440); (R-HSA-9692916); (R-HSA-9705671); (R-HSA-9833109); (R-HSA-9833110); (R-HSA-9833482); (R-HSA-9909505); (R-HSA-9920588)", "pathway_count": 18, "publication_count": 547, "publication_id_list": 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"class_list": "", "function": "ANKRD1 aggravates renal ischaemia-reperfusion injury via promoting TRIM25-mediated ubiquitination of ACSL3., [RefSeq, PubMed]; Exploring the impression of TRIM25 gene expression on COVID-19 severity and SARS-CoV-2 viral replication., [RefSeq, PubMed]; Functions as a ubiquitin E3 ligase and as an ISG15 E3 ligase (PubMed:16352599). Involved in innate immune defense against viruses by mediating ubiquitination of RIGI and IFIH1 (PubMed:17392790, PubMed:29357390, PubMed:30193849, PubMed:31710640, PubMed:33849980, PubMed:36045682, PubMed:40719442). Mediates 'Lys-63'-linked polyubiquitination of the RIGI N-terminal CARD-like region and may play a role in signal transduction that leads to the production of interferons in response to viral infection (PubMed:17392790, PubMed:23950712). Mediates 'Lys-63'-linked polyubiquitination of IFIH1 (PubMed:30193849). Promotes ISGylation of 14-3-3 sigma (SFN), an adapter protein implicated in the regulation of a large spectrum signaling pathway (PubMed:16352599, PubMed:17069755). Mediates estrogen action in various target organs (PubMed:22452784). Mediates the ubiquitination and subsequent proteasomal degradation of ZFHX3 (PubMed:22452784). Plays a role in promoting the restart of stalled replication forks via interaction with the KHDC3L-OOEP scaffold and subsequent ubiquitination of BLM, resulting in the recruitment and retainment of BLM at DNA replication forks (By similarity). Plays an essential role in the antiviral activity of ZAP/ZC3HAV1; an antiviral protein which inhibits the replication of certain viruses. Mechanistically, mediates 'Lys-63'-linked polyubiquitination of ZAP/ZC3HAV1 that is required for its optimal binding to target mRNA (PubMed:28060952, PubMed:28202764). Also mediates the ubiquitination of various substrates implicated in stress granule formation, nonsense-mediated mRNA decay, nucleoside synthesis and mRNA translation and stability (PubMed:36067236). Participates in autophagy suppression by ubiquitinating and degrading p62/SQSTM1 (PubMed:40542578)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; TRIM25 predominately associates with anti-viral stress granules. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM25-mediated XRCC1 ubiquitination accelerates atherosclerosis by inducing macrophage M1 polarization and programmed death., [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 is an RNA binding protein, functions as a ubiquitin E3 ligase and is involved in multiple cellular processes, including regulation of antiviral innate immunity. [provided by RefSeq, Sep 2021]., [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": 11, "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": "2.3.2.27;2.7.11.10;2.7.11.1;2.3.2.23;3.1.3.16;3.6.4.13;2.7.7.84;1.8.4.-;1.8.-.-;3.1.4.11;2.7.10.2;2.7.11.24;2.3.2.-;3.6.1.-;3.6.5.-;2.3.1.-;6.2.1.-;2.3.2.24;2.7.11.25;6.3.2.n3;3.4.22.61;3.4.22.63;3.4.19.12;2.3.2.26;2.7.7.7;2.7.7.-;2.3.2.31", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0045296 cadherin binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0046596 regulation of viral entry into host cell;GO:0044790 suppression of viral release by host;GO:0006979 response to oxidative stress;GO:0045087 innate immune response;GO:0032880 regulation of protein localization", "synthesized_glycan_count": 0, "hit_score": 55.0, "record_id": "Q14258-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75071-1", "uniprot_id": "EFC14_HUMAN", "mass": 55031.0, "length": 495, "protein_name": "EF-hand calcium-binding domain-containing protein 14", "gene_name": "EFCAB14", "organism": "Human", "refseq_name": "EF-hand calcium-binding domain-containing protein 14", "refseq_ac": "NP_055589", "gene_names_uniprotkb": "EFCAB14; KIAA0494", "gene_names_refseq": "EFCAB14; KIAA0494", "protein_names_uniprotkb": "EF-hand calcium-binding domain-containing protein 14", "protein_names_refseq": "EF-hand calcium-binding domain-containing protein 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:9813)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;17672918;18512783;18691976;23090970;23186163;23584533;24190977;25502872;25787250;27452731;27600516;29242379;29314611;29557506;29741879;30429286;30524438;30626607;31020640;31154438;31611695;31844290;31848261;32350084;32938750;33043033;33592498;33912179;34357683;34433824;34932366;35051231;35154160;35251023;35561310;37074911", "class_list": "", "function": "Occurrence of an unusual TG 3' splice site in intron 1, [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": 6, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "D3DQ23;Q5SXB8", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "O75071-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H254-1", "uniprot_id": "SPTN4_HUMAN", "mass": 288985.0, "length": 2564, "protein_name": "Spectrin beta chain, non-erythrocytic 4", "gene_name": "SPTBN4", "organism": "Human", "refseq_name": "spectrin beta chain, non-erythrocytic 4 isoform sigma1", "refseq_ac": "NP_066022", "gene_names_uniprotkb": "SPTBN4; KIAA1642; SPTBN3", "gene_names_refseq": "CMND; NEDHND; QV; SPNB4; SPTBN3; SPTBN4", "protein_names_uniprotkb": "Spectrin beta chain, non-erythrocytic 4; Beta-IV spectrin; Spectrin, non-erythroid beta chain 3", "protein_names_refseq": "beta-IV spectrin; spectrin beta chain, brain 3; spectrin beta chain, non-erythrocytic 4 isoform sigma1; spectrin beta chain, non-erythrocytic 4; spectrin, non-erythroid beta chain 3", "tax_id": 9606, "disease": "spinocerebellar ataxia 5 (Disease Ontology:DOID:0050882); neurodevelopmental disorder with hypotonia, neuropathy, and deafness (MONDO:MONDO:0060496)", "pathway": " (hsa:57731); (R-HSA-375165); (R-HSA-445095); (R-HSA-5673001); (R-HSA-6807878)", "pathway_count": 5, "publication_count": 198, "publication_id_list": "10052452;10318838;10445031;10508167;10559959;10679020;10761932;10869344;10903204;10921873;11027663;11035033;11086001;11090077;11136978;11172815;11222639;11237011;11285137;11294830;11306556;11313946;11461920;11546808;11689559;11702783;11703931;11726511;11748249;12032311;12047556;12070132;12094235;12121613;12388752;12634853;12700044;14506247;14654841;14707138;14742712;15037235;15356145;1545823;15546878;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16597699;16627759;16633337;16684964;16723730;1680566;16904324;16912714;16926190;16940185;1716764;17223356;17253781;17274799;17360540;17429068;17451557;17760859;17927562;17956946;17998941;18086915;18182008;18283113;18524849;18775330;18809720;1898771;1898986;19015319;19109418;19164740;19279408;19296914;1957170;19631211;19758564;19920141;20068231;20198315;20357002;20427317;20478380;20637885;21102635;21219331;21372320;21689688;21779497;21779505;21844168;21993244;22013193;22094269;22304919;22569528;22589270;22750304;23103841;23303910;23443682;23481700;23575685;23839779;24119662;24714562;24806965;24897931;24937142;25219551;25418920;25436559;25492864;25576301;25645385;25781681;26085527;26375851;27397612;2809592;28228285;28540413;28778966;28832583;28904123;29237092;29508533;29786170;29861105;30429286;31135801;32387766;32502341;32938616;33141586;33234719;33392160;33592498;33772159;33968037;33981976;34087483;34171305;34185709;35008409;35051231;36215666;36241641;36899883;6148751;7691276;7809086;7935463;7972015;7997267;8001155;8052307;8128252;8132710;8221884;8253837;8394845;8493579;8505331;8620540;8636227;8665852;8710374;8939933;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9604935;9671725;9687510;9751720;9927426;9990005", "class_list": "", "function": "BetaIII spectrin controls the planarity of Purkinje cell dendrites by modulating perpendicular axon-dendrite interactions. Publication Status: Online-Only, [RefSeq, PubMed]; Bi-allelic pathogenic SPTBN4 variants (three homozygous and two compound heterozygous) that cause a severe neurological syndrome that includes congenital hypotonia, intellectual disability, and motor axonal and auditory neuropathy, are reported., [RefSeq, PubMed]; Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Spectrin-Based Regulation of Cardiac Fibroblast Cell-Cell Communication. 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "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": "E9PGQ5;Q9H1K7;Q9H1K8;Q9H1K9;Q9H253;Q9H3G8;Q9HCD0", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0005200 structural constituent of cytoskeleton;GO:0005543 phospholipid binding;GO:0051015 actin filament binding;GO:0030507 spectrin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005884 actin filament;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007409 axonogenesis;GO:0072659 protein localization to plasma membrane;GO:0030036 actin cytoskeleton organization;GO:0002028 regulation of sodium ion transport;GO:0010459 negative regulation of heart rate", "synthesized_glycan_count": 0, "hit_score": 20.1, "record_id": "Q9H254-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96HY6-1", "uniprot_id": "DDRGK_HUMAN", "mass": 35611.0, "length": 314, "protein_name": "DDRGK domain-containing protein 1", "gene_name": "DDRGK1", "organism": "Human", "refseq_name": "DDRGK domain-containing protein 1", "refseq_ac": "NP_076424", "gene_names_uniprotkb": "DDRGK1; C20orf116; UFBP1", "gene_names_refseq": "C20orf116; DDRGK1; SEMDSH; UFBP1; dJ1187M17.3", "protein_names_uniprotkb": "DDRGK domain-containing protein 1; Dashurin; UFM1-binding and PCI domain-containing protein 1", "protein_names_refseq": "DDRGK domain-containing protein 1; Dashurin; UFM1-binding and PCI domain-containing protein 1; UFM1-binding protein 1 containing a PCI domain", "tax_id": 9606, "disease": "spondyloepimetaphyseal dysplasia, Shohat type (MONDO:MONDO:0011252)", "pathway": " (hsa:65992); (R-HSA-8980692)", "pathway_count": 2, "publication_count": 215, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;11058585;11085924;11207612;11237011;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12531887;12650940;12857875;12877655;12975309;14512443;15023524;15064355;15107133;15302923;15342493;15485661;15601624;15611138;15850391;15866170;16112081;16116428;16184169;16217026;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;17077126;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18829452;19494238;19605563;19635168;19673492;19713215;20018847;20030946;20036718;20101212;20228063;20400958;20591975;20628200;20660154;21148482;21351730;21454492;21565175;21699497;21865595;21936715;22096251;22298643;22305756;22424782;22673745;22911862;22992742;23186163;23200924;23255595;23434736;23481700;23572525;23675531;23870313;24086303;24128008;24259668;24275569;24335996;24352656;24933155;25211221;25219498;25576301;25645385;25704760;26154972;26371245;26529257;26887924;27145964;27216196;27452731;27481945;27846572;27920218;27926783;27986909;28112683;28128204;28196833;28228285;28263186;28584191;29146911;29242379;29493099;29557506;29632711;29769354;30315122;30429286;30484775;30626644;31105010;31844290;31871319;32157095;32160526;32203420;32350084;32387766;32488085;32502341;32938616;32983136;33141586;33592498;33968037;33981976;34171305;34211107;34509645;35051231;35251023;35318648;35580925;35753586;36010968;36121123;36241641;36543799;37595036;37795761;37938771;37988244;38383785;38383789;40914422;7479768;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9305890;9418861;9490638;9497316;9535835;9548756;9659915;9670022;9792683;9822605;9829970", "class_list": "", "function": "Component of the UFM1 ribosome E3 ligase (UREL) complex, a multiprotein complex that catalyzes ufmylation of endoplasmic reticulum-docked proteins (PubMed:30626644, PubMed:32160526, PubMed:35753586, PubMed:36121123, PubMed:36543799, PubMed:37595036, PubMed:37795761, PubMed:38383785, PubMed:38383789). The UREL complex plays a key role in ribosome recycling by mediating mono-ufmylation of the RPL26/uL24 subunit of the 60S ribosome following ribosome dissociation: ufmylation weakens the junction between post-termination 60S subunits and SEC61 translocons, promoting release and recycling of the large ribosomal subunit from the endoplasmic reticulum membrane (PubMed:38383785, PubMed:38383789). Ufmylation of RPL26/uL24 and subsequent 60S ribosome recycling either take place after normal termination of translation or after ribosome stalling during cotranslational translocation at the endoplasmic reticulum (PubMed:37595036, PubMed:38383785, PubMed:38383789). Within the UREL complex, DDRGK1 tethers the complex to the endoplasmic reticulum membrane to restrict its activity to endoplasmic reticulum-docked ribosomes and acts as an ufmylation 'reader': following RPL26/uL24 ufmylation, DDRGK1 specifically binds to ufmylated RPL26/uL24 via its UFIM motif, resulting in stable association between the 60S ribosome and the UREL complex, followed by dissociation of the 60S ribosome subunit from the endoplasmic reticulum membrane (PubMed:36121123, PubMed:37595036, PubMed:38383785, PubMed:38383789). The UREL complex is also involved in reticulophagy in response to endoplasmic reticulum stress by promoting ufmylation of proteins such as CYB5R3 and RPN1, thereby promoting lysosomal degradation of ufmylated proteins (PubMed:32160526, PubMed:36543799). Ufmylation-dependent reticulophagy inhibits the unfolded protein response (UPR) by regulating ERN1/IRE1-alpha stability (PubMed:28128204, PubMed:32160526). Acts as a regulator of immunity by promoting differentiation of B-cells into plasma cells: acts by promoting expansion of the endoplasmic reticulum and regulating the unfolded protein response (UPR) (By similarity). May also be required for TRIP4 ufmylation (PubMed:25219498). May play a role in NF-kappa-B-mediated transcription through regulation of the phosphorylation and the degradation of NFKBIA, the inhibitor of NF-kappa-B (PubMed:23675531). Plays a role in cartilage development through SOX9, inhibiting the ubiquitin-mediated proteasomal degradation of this transcriptional regulator (PubMed:28263186). Required for stabilization and ufmylation of ATG9A (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Found that C53/LZAP and DDRGK1 became more susceptible to the proteasome-mediated degradation in RCAD knockdown cells, whereas their ubiquitination was significantly attenuated by RCAD overexpression, [RefSeq, PubMed]; The protein encoded by this gene interacts with components of the ubiquitin fold modifier 1 conjugation pathway and helps prevent apoptosis in ER-stressed secretory tissues. In addition, the encoded protein regulates nuclear factor-κB activity. [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": 2, "reported_mutagensis": 17, "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": "A6NIU5;C9JSZ5;Q9BW47", "ec_number_list": "", "go_molecular_function": "GO:0044389 ubiquitin-like protein ligase binding;GO:0141185 UFM1-modified protein reader activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0032790 ribosome disassembly;GO:0008284 positive regulation of cell population proliferation;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 21.8, "record_id": "Q96HY6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P41567-1", "uniprot_id": "EIF1_HUMAN", "mass": 12732.0, "length": 113, "protein_name": "Eukaryotic translation initiation factor 1", "gene_name": "EIF1", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 1", "refseq_ac": "NP_005792", "gene_names_uniprotkb": "EIF1; SUI1", "gene_names_refseq": "A121; EIF-1; EIF1A; EIF1; ISO1; SUI1", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 1; A121; Protein translation factor SUI1 homolog; Sui1iso1; eIF1", "protein_names_refseq": "eukaryotic translation initiation factor 1; protein translation factor SUI1 homolog; sui1iso1", "tax_id": 9606, "disease": "peripheral artery disease (Disease Ontology:DOID:0050830); familial encephalopathy with neuroserpin inclusion bodies (Disease Ontology:DOID:0050831); sleep apnea (Disease Ontology:DOID:0050847); obstructive sleep apnea (Disease Ontology:DOID:0050848); glomerulosclerosis (Disease Ontology:DOID:0050851); renal fibrosis (Disease Ontology:DOID:0050855); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); stroke (Disease Ontology:DOID:0051061); ischemic colitis (Disease Ontology:DOID:0060181); thrombosis (Disease Ontology:DOID:0060903); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); Coronavirus infectious disease (Disease Ontology:DOID:0080599); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); Graves ophthalmopathy (Disease Ontology:DOID:0081120); platelet-type bleeding disorder 10 (Disease Ontology:DOID:0111046); pleurisy (Disease Ontology:DOID:10247); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); disseminated intravascular coagulation (Disease Ontology:DOID:11247); adult respiratory distress syndrome (Disease Ontology:DOID:11394); sciatic neuropathy (Disease Ontology:DOID:11446); polycystic ovary syndrome (Disease Ontology:DOID:11612); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); portal vein thrombosis (Disease Ontology:DOID:11695); diabetic angiopathy (Disease Ontology:DOID:11713); Graves' disease (Disease Ontology:DOID:12361); retinopathy of prematurity (Disease Ontology:DOID:13025); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); Behcet's disease (Disease Ontology:DOID:13241); familial combined hyperlipidemia (Disease Ontology:DOID:13809); familial hypercholesterolemia (Disease Ontology:DOID:13810); polyneuropathy (Disease Ontology:DOID:1389); thoracic aortic aneurysm (Disease Ontology:DOID:14004); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); toxic shock syndrome (Disease Ontology:DOID:14115); breast cancer (Disease Ontology:DOID:1612); glaucoma (Disease Ontology:DOID:1686); retinal vein occlusion (Disease Ontology:DOID:1727); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); asthma (Disease Ontology:DOID:2841); glomerulonephritis (Disease Ontology:DOID:2921); familial Mediterranean fever (Disease Ontology:DOID:2987); high grade glioma (Disease Ontology:DOID:3070); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); neurilemmoma (Disease Ontology:DOID:3192); coronary artery disease (Disease Ontology:DOID:3393); Noonan syndrome (Disease Ontology:DOID:3490); middle cerebral artery infarction (Disease Ontology:DOID:3525); cerebral infarction (Disease Ontology:DOID:3526); aortic aneurysm (Disease Ontology:DOID:3627); pulmonary fibrosis (Disease Ontology:DOID:3770); placental insufficiency (Disease Ontology:DOID:3891); systemic scleroderma (Disease Ontology:DOID:418); macular degeneration (Disease Ontology:DOID:4448); rhinitis (Disease Ontology:DOID:4483); liver cirrhosis (Disease Ontology:DOID:5082); ureteral obstruction (Disease Ontology:DOID:5199); pneumonia (Disease Ontology:DOID:552); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); myocardial infarction (Disease Ontology:DOID:5844); uveal melanoma (Disease Ontology:DOID:6039); pulmonary hypertension (Disease Ontology:DOID:6432); hematopoietic system disease (Disease Ontology:DOID:74); muscular atrophy (Disease Ontology:DOID:767); abdominal aortic aneurysm (Disease Ontology:DOID:7693); end stage renal disease (Disease Ontology:DOID:783); hyperthyroidism (Disease Ontology:DOID:7998); polycythemia (Disease Ontology:DOID:8432); lung disease (Disease Ontology:DOID:850); diabetic retinopathy (Disease Ontology:DOID:8947); amyloidosis (Disease Ontology:DOID:9120); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:10209)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "10.1101/2023.09.13.557529;10228174;10347211;11073994;11237011;12435632;14600024;15592455;20068231;21406692;22813744;23186163;23739916;24319994;24366607;25576301;25892735;26992070;27862975;27920218;28218747;28446606;28510447;28514659;28832583;28904123;29242379;29314611;29331515;29493099;29508533;29557506;29769354;29786170;29987188;30192525;30211544;30429286;30524438;30604225;30779550;31154438;31217245;31222486;31530632;31611695;31844290;31848261;32157095;32161166;32357974;32488085;32502341;32897882;32938616;32983136;33141586;33912179;33981976;34019948;34171305;34932366;35051231;35154160;35580925;35857873;36241641;36284347;39443796;7904817;9732867", "class_list": "", "function": "Component of the 43S pre-initiation complex (43S PIC), which binds to the mRNA cap-proximal region, scans mRNA 5'-untranslated region, and locates the initiation codon (PubMed:12435632, PubMed:14600024, PubMed:9732867). Together with eIF1A (EIF1AX), EIF1 facilitates scanning and is essential for start codon recognition on the basis of AUG nucleotide context and location relative to the 5'-cap (PubMed:12435632, PubMed:14600024, PubMed:9732867). Participates to initiation codon selection by influencing the conformation of the 40S ribosomal subunit and the positions of bound mRNA and initiator tRNA; this is possible after its binding to the interface surface of the platform of the 40S ribosomal subunit close to the P-site (PubMed:14600024). Together with eIF1A (EIF1AX), also regulates the opening and closing of the mRNA binding channel, which ensures mRNA recruitment, scanning and the fidelity of initiation codon selection (PubMed:9732867). Continuously monitors and protects against premature and partial base-pairing of codons in the 5'-UTR with the anticodon of initiator tRNA (PubMed:12435632, PubMed:9732867). Together with eIF1A (EIF1AX), acts for ribosomal scanning, promotion of the assembly of 48S complex at the initiation codon (43S PIC becomes 48S PIC after the start codon is reached), and dissociation of aberrant complexes (PubMed:9732867). Interacts with EIF4G1, which in a mutual exclusive interaction associates either with EIF1 or with EIF4E on a common binding site (PubMed:29987188). EIF4G1-EIF1 complex promotes ribosome scanning (on both short and long 5'UTR), leaky scanning (on short 5'UTR) which is the bypass of the initial start codon, and discrimination against cap-proximal AUG (PubMed:29987188). Is probably maintained within the 43S PIC in open conformation thanks to eIF1A-EIF5 interaction (PubMed:24319994). Once the correct start codon is reached, EIF1 is physically excluded from the decoding site, shifting the PIC into the closed conformation and arresting it at the start codon (PubMed:22813744)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Inhibitors of eIF4G1-eIF1 uncover its regulatory role of ER/UPR stress-response genes independent of eIF2alpha-phosphorylation., [RefSeq, PubMed]; Nuclear release of eIF1 restricts start-codon selection during mitosis., [RefSeq, PubMed]; Results indicate that in humans, eIF5B displacing eIF2 from Met-tRNAi upon subunit joining may be coupled to eIF1A displacing eIF5 from eIF5B, allowing the eIF5:eIF2-GDP complex to leave the ribosome., [RefSeq, PubMed]; These data directly implicate translational repression in C9orf72 repeat-induced neurodegeneration and identify eIF1A as a novel modifier of C9orf72 repeat toxicity., [RefSeq, PubMed]; We report that eIF4G1 exists in two complexes, either with eIF4E or with eIF1. Using an eIF1 mutant impaired in eIF4G1 binding, we demonstrate that eIF1-eIF4G1 interaction is important for leaky scanning and for avoiding m7G-cap-proximal initiation. 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": 5, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 79, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9UNQ9", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0043024 ribosomal small subunit binding;GO:0008135 translation factor activity, RNA binding;GO:0003743 translation initiation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016282 eukaryotic 43S preinitiation complex;GO:0033290 eukaryotic 48S preinitiation complex;GO:0043614 multi-eIF complex", "go_biological_process": "GO:0006413 translational initiation;GO:0006446 regulation of translational initiation;GO:0010468 regulation of gene expression;GO:0080090 regulation of primary metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "P41567-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51668-1", "uniprot_id": "UB2D1_HUMAN", "mass": 16602.0, "length": 147, "protein_name": "Ubiquitin-conjugating enzyme E2 D1", "gene_name": "UBE2D1", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 D1 isoform 1", "refseq_ac": "NP_003329", "gene_names_uniprotkb": "UBE2D1; SFT; UBC5A; UBCH5A; UBCH5", "gene_names_refseq": "E2(17)KB1; SFT; UBC4/5; UBCH5A; UBCH5; UBE2D1", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 D1; (E3-independent) E2 ubiquitin-conjugating enzyme D1; 2.3.2.23; 2.3.2.24; E2 ubiquitin-conjugating enzyme D1; SFT; Stimulator of Fe transport; UBC4/5 homolog; UbcH5; Ubiquitin carrier protein D1; Ubiquitin-conjugating enzyme E2(17)KB 1; Ubiquitin-conjugating enzyme E2-17 kDa 1; Ubiquitin-protein ligase D1", "protein_names_refseq": "(E3-independent) E2 ubiquitin-conjugating enzyme D1; E2 ubiquitin-conjugating enzyme D1; stimulator of Fe transport; ubiquitin carrier protein D1; ubiquitin conjugating enzyme E2D 1; ubiquitin-conjugating enzyme E2 D1 isoform 1; ubiquitin-conjugating enzyme E2(17)KB 1; ubiquitin-conjugating enzyme E2-17 kDa 1; ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast); ubiquitin-protein ligase D1", "tax_id": 9606, "disease": "", "pathway": " (hsa:7321); (R-HSA-1234176); (R-HSA-141430); (R-HSA-168927); (R-HSA-174048); (R-HSA-174084); (R-HSA-174154); (R-HSA-174178); (R-HSA-174184); (R-HSA-176407); (R-HSA-176408); (R-HSA-176409); (R-HSA-176412); (R-HSA-179409); (R-HSA-201451); (R-HSA-202424); (R-HSA-2173795); (R-HSA-2467813); (R-HSA-2559582); (R-HSA-2871837); (R-HSA-5357905); (R-HSA-5607764); (R-HSA-5689896); (R-HSA-68867); (R-HSA-69017); (R-HSA-8853884); (R-HSA-8866652); (R-HSA-8866654); (R-HSA-8951664); (R-HSA-9033241); (R-HSA-936440); (R-HSA-937041); (R-HSA-9687136); (R-HSA-9705462); (R-HSA-983168); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9954716)", "pathway_count": 38, "publication_count": 617, "publication_id_list": 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"class_list": "", "function": "Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:22496338). In vitro catalyzes 'Lys-48'-linked polyubiquitination (PubMed:20061386). Mediates the selective degradation of short-lived and abnormal proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Mediates ubiquitination of PEX5 and auto-ubiquitination of STUB1, TRAF6 and TRIM63/MURF1 (PubMed:18042044, PubMed:18359941). Ubiquitinates STUB1-associated HSP90AB1 in vitro (PubMed:18042044). Lacks inherent specificity for any particular lysine residue of ubiquitin (PubMed:18042044). Essential for viral activation of IRF3 (PubMed:19854139). Mediates polyubiquitination of CYP3A4 (PubMed:19103148)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; B-box1 Domain of MID1 Interacts with the Ube2D1 E2 Enzyme Differently Than RING E3 Ligases., [RefSeq, PubMed]; The E2 ubiquitin-conjugating enzymes UBE2D1 and UBE2D2 regulate VEGFR2 dynamics and endothelial function., [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. This enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating enzyme and the E3 ubiquitin-protein ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]., [RefSeq]; UBCH5 Family Members Differentially Impact Stabilization of Mutant p53 via RNF128 Iso1 During Barrett's Progression to Esophageal 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "A6NLF6;A8K786", "ec_number_list": "6.2.1.45;3.4.19.12;2.3.2.24;2.3.2.23;2.7.11.1;2.3.2.26;2.3.2.27;2.3.2.31;2.7.10.2;2.3.2.-;3.6.4.13;2.7.11.22;2.7.11.23;4.2.99.18;3.4.25.1;2.3.2.36;6.2.1.-;2.7.11.21;2.3.2.34;2.3.2.32;3.6.4.-;6.2.1.64;2.3.2.25;2.1.1.-;2.1.1.367;1.14.11.29;1.14.11.-", "go_molecular_function": "GO:0005524 ATP binding;GO:0061630 ubiquitin protein ligase activity;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:0005829 cytosol;GO:0032991 protein-containing complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0030514 negative regulation of BMP signaling pathway;GO:0031398 positive regulation of protein ubiquitination;GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 61.8, "record_id": "P51668-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P06340-1", "uniprot_id": "DOA_HUMAN", "mass": 27599.0, "length": 250, "protein_name": "HLA class II histocompatibility antigen, DO alpha chain", "gene_name": "HLA-DOA", "organism": "Human", "refseq_name": "HLA class II histocompatibility antigen, DO alpha chain precursor", "refseq_ac": "NP_002110", "gene_names_uniprotkb": "HLA-DOA; HLA-DNA; HLA-DZA", "gene_names_refseq": "HLA-DNA; HLA-DOA; HLA-DZA; HLADZ", "protein_names_uniprotkb": "HLA class II histocompatibility antigen, DO alpha chain; MHC DN-alpha; MHC DZ alpha; MHC class II antigen DOA", "protein_names_refseq": "HLA class II histocompatibility antigen, DO alpha chain precursor; HLA class II histocompatibility antigen, DO alpha chain; HLA-D0-alpha; MHC DN-alpha; MHC DZ alpha; MHC class II antigen DOA; lymphocyte antigen; major histocompatibility complex, class II, DN alpha", "tax_id": 9606, "disease": "occupational asthma (Disease Ontology:DOID:0080820)", "pathway": " (hsa:3111); (R-HSA-2132295)", "pathway_count": 2, "publication_count": 134, "publication_id_list": "10036229;10064083;10072072;10323340;10480952;10540230;10593899;10631941;10631952;10639150;10748235;10809954;10837054;11237011;11529500;11684289;11790530;11813165;11853874;12078484;12198549;12742663;12748383;14731593;15118850;15749704;15911768;16101837;16181339;16242130;16618111;16824007;17142755;17283181;18046453;18292509;1956401;19564404;21116285;2121367;21441454;2190094;2370084;23783831;2391366;24029068;24530695;24714562;24715725;2499532;25418920;25469497;25502872;25576301;25645385;25758996;25874709;25880248;26154972;26610428;26811146;26992070;27486778;27846572;27862975;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29557506;29632046;29632711;29786170;3000765;30315122;30429286;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32265295;32350084;32357974;32488085;32502341;32983136;33091337;33298915;33592498;33691108;33717175;34357683;34433824;34932366;35051231;35154160;35580925;36215666;36284347;36581221;37938771;7481823;7592972;7650016;7667286;8046351;8134367;8145819;8148318;8313912;8397411;8415765;8642258;8687433;8849454;8909537;8939989;8947036;9075930;9202021;9311912;9312039;9497313;9539769;9545226;9606180", "class_list": "", "function": "Contribution of a Non-classical HLA Gene, HLA-DOA, to the Risk of Rheumatoid Arthritis, [RefSeq, PubMed]; HLA-DO regulates surface presentation of human leukocyte antigen class II-restricted antigens on B cell malignancies., [RefSeq, PubMed]; HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq, Jul 2008]., [RefSeq]; Important modulator in the HLA class II restricted antigen presentation pathway by interaction with the HLA-DM molecule in B-cells. Modifies peptide exchange activity of HLA-DM., [UniProtKB]; PH-susceptibility of HLA-DO tunes DO/DM ratios to regulate HLA-DM catalytic activity. Publication Status: Online-Only, [RefSeq, PubMed]; Significant association was found between white wine liking and rs9276975:C>T polymorphism in the HLA-DOA gene., [RefSeq, PubMed]; TAP2, HLA-DOA, HLA-DOB, and tapasin loci are novel candidate regions for susceptibility to HCV infection and viral clearance in the Chinese 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": 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": 8, "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": "Q58HU0;Q58HU1;Q5STC7;Q9TQC6;Q9TQC7;Q9TQC8;Q9TQC9;Q9TQD0;Q9TQD1;Q9TQD2;Q9TQD3", "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:0005886 plasma membrane;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane;GO:0042613 MHC class II protein complex", "go_biological_process": "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;GO:0050778 positive regulation of immune response", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "P06340-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P17936-1", "uniprot_id": "IBP3_HUMAN", "mass": 31674.0, "length": 291, "protein_name": "Insulin-like growth factor-binding protein 3", "gene_name": "IGFBP3", "organism": "Human", "refseq_name": "insulin-like growth factor-binding protein 3 isoform b precursor", "refseq_ac": "NP_000589", "gene_names_uniprotkb": "IGFBP3; IBP3", "gene_names_refseq": "BP-53; IBP-3; IBP3; IGFBP-3; IGFBP3", "protein_names_uniprotkb": "Insulin-like growth factor-binding protein 3; IBP-3; IGF-binding protein 3; IGFBP-3", "protein_names_refseq": "IGF-binding protein 3; acid stable subunit of the 140 K IGF complex; binding protein 29; binding protein 53; growth hormone-dependent binding protein; insulin-like growth factor-binding protein 3 isoform b precursor", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); primary progressive multiple sclerosis (Disease Ontology:DOID:0050784); 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); urinary bladder cancer (Disease Ontology:DOID:11054); osteoporosis (Disease Ontology:DOID:11476); beta thalassemia (Disease Ontology:DOID:12241); acoustic neuroma (Disease Ontology:DOID:12689); retinopathy of prematurity (Disease Ontology:DOID:13025); Down syndrome (Disease Ontology:DOID:14250); cystic fibrosis (Disease Ontology:DOID:1485); breast cancer (Disease Ontology:DOID:1612); ichthyosis (Disease Ontology:DOID:1697); McCune Albright syndrome (Disease Ontology:DOID:1858); impotence (Disease Ontology:DOID:1875); arteriosclerosis (Disease Ontology:DOID:2349); transitional cell carcinoma (Disease Ontology:DOID:2671); high grade glioma (Disease Ontology:DOID:3070); Turner syndrome (Disease Ontology:DOID:3491); pulmonary fibrosis (Disease Ontology:DOID:3770); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); systemic scleroderma (Disease Ontology:DOID:418); renal cell carcinoma (Disease Ontology:DOID:4450); epidermolysis bullosa dystrophica (Disease Ontology:DOID:4959); ankylosing spondylitis (Disease Ontology:DOID:7147); osteoarthritis (Disease Ontology:DOID:8398); myeloid leukemia (Disease Ontology:DOID:8692); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); Barrett's esophagus (Disease Ontology:DOID:9206); ornithine carbamoyltransferase deficiency (Disease Ontology:DOID:9271); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3486); (R-HSA-381426); (R-HSA-6803211); (R-HSA-8957275)", "pathway_count": 4, "publication_count": 133, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10026136;10077652;10218588;10512690;10614670;10650937;10681634;10777207;10810289;10874028;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11382926;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12810533;12904166;1370451;1383255;14561895;14623878;14760718;15126567;15289308;15308688;15340161;15371331;15469690;15485880;15525596;15642270;15769996;15800934;16230375;16335952;1695633;16959974;1697583;17047378;17108124;17249697;1726837;17312271;17985932;19139490;19159218;19556345;19615968;19623253;19824718;19952275;20353938;23090970;23365256;23584533;23719902;24190977;2464130;24715725;2476804;2479552;25502872;26091039;26216267;26378048;26992070;27622074;29242379;29314611;29391424;29557506;29632711;29671580;30459171;31154438;31844290;31848261;32157095;32350084;32938616;33968037;35051231;35251023;35561310;35580925;35907924;37074911;37217939;37948568;37950229;38224009;38468402;38665916;39183355;7508771;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7566179;7588299;7683646;7689487;8781553;8817670;8894645;8964575;9252371;9326928;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Discovering genes and microRNAs involved in human lung development unveils IGFBP3/miR-34a dynamics and their relevance for alveolar differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of insulin-like growth factor binding protein-3 in HELLP syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; IGF2BP2 and IGFBP3 Genotypes, Haplotypes, and Genetic Models Studies in Polycystic Ovary Syndrome., [RefSeq, PubMed]; Insulin-like growth factor binding protein 3 promoter variant (rs2854744) is associated with nonalcoholic fatty liver disease., [RefSeq, PubMed]; Multifunctional protein that plays a critical role in regulating the availability of IGFs such as IGF1 and IGF2 to their receptors and thereby regulates IGF-mediated cellular processes including proliferation, differentiation, and apoptosis in a cell-type specific manner (PubMed:10874028, PubMed:19556345). Also exhibits IGF-independent antiproliferative and apoptotic effects mediated by its receptor TMEM219/IGFBP-3R (PubMed:20353938). Inhibits the positive effect of humanin on insulin sensitivity (PubMed:19623253). Promotes testicular germ cell apoptosis (PubMed:19952275). Acts via LRP-1/alpha2M receptor, also known as TGF-beta type V receptor, to mediate cell growth inhibition independent of IGF1 (PubMed:9252371). Mechanistically, induces serine-specific dephosphorylation of IRS1 or IRS2 upon ligation to its receptor, leading to the inhibitory cascade (PubMed:15371331). In the nucleus, interacts with transcription factors such as retinoid X receptor-alpha/RXRA to regulate transcriptional signaling and apoptosis (PubMed:10874028)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Novel therapeutic targets, including IGFBP3, of umbilical cord mesenchymal stem-cell-conditioned medium in intrauterine adhesion., [RefSeq, PubMed]; This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. 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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 19, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 19, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 19, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 7, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 28, "disease_count": 36, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "A4D2F5;D3DVM0;Q2V509;Q6P1M6;Q9UCL4", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0005520 insulin-like growth factor binding;GO:0001968 fibronectin binding;GO:0008160 protein tyrosine phosphatase activator activity;GO:0031994 insulin-like growth factor I binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005788 endoplasmic reticulum lumen;GO:0042567 insulin-like growth factor ternary complex", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0008285 negative regulation of cell population proliferation;GO:0043065 positive regulation of apoptotic process;GO:0001933 negative regulation of protein phosphorylation;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 18.4, "record_id": "P17936-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NPF5-1", "uniprot_id": "DMAP1_HUMAN", "mass": 52993.0, "length": 467, "protein_name": "DNA methyltransferase 1-associated protein 1", "gene_name": "DMAP1", "organism": "Human", "refseq_name": "DNA methyltransferase 1-associated protein 1", "refseq_ac": "NP_001029195", "gene_names_uniprotkb": "DMAP1; KIAA1425", "gene_names_refseq": "DMAP1; DNMAP1; DNMTAP1; EAF2; MEAF2; SWC4", "protein_names_uniprotkb": "DNA methyltransferase 1-associated protein 1; DNMAP1; DNMT1-associated protein 1", "protein_names_refseq": "DNA methyltransferase 1-associated protein 1; DNMT1 associated protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55929); (R-HSA-3214847)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "10.1101/2023.09.13.557529;10786633;10821277;10888872;11230166;11237011;12963728;14665632;14734556;14966270;14978102;15196461;15313887;15367675;16387653;16964243;17081983;17322306;17924679;18381289;18452278;18623064;18669648;18691976;18767875;19187765;19664995;19690332;20018852;20058876;20068231;21406692;21740066;23186163;24275569;24714562;25418920;25576301;25645385;26154972;26206665;26728094;26992070;27846572;27920218;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29632711;30315122;30429286;30553276;30620550;30833945;31530632;31844290;31848261;32157095;32265295;32387766;32502341;32938616;32938750;32983136;33298915;33592498;33717175;33968037;34019948;34509645;35051231;35254053;35318648;35561310;35580925;36010968;36240223;36241641;36284347;37938771;38838015;39531497;40596516;9427644;9558366;9880483", "class_list": "", "function": "A novel tumour suppressor gene, MDGA2, which is frequently inactivated by promoter methylation in Gastric cancer, exerts a tumour suppressive function by cooperating with DMAP1 to activate the p53/p21 signalling cascade., [RefSeq, PubMed]; Findings reveal a regulatory role of Bub3 in DMAP1-mediated DNA methylation upon mitotic stress. Erratum:[Mol Cancer. 2019 Nov 29;18(1):172. doi: 10.1186/s12943-019-1067-2. PMID: 31783872] Publication Status: Online-Only, [RefSeq, PubMed]; Involved in transcription repression and activation. Its interaction with HDAC2 may provide a mechanism for histone deacetylation in heterochromatin following replication of DNA at late firing origins. Can also repress transcription independently of histone deacetylase activity. May specifically potentiate DAXX-mediated repression of glucocorticoid receptor-dependent transcription. Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Participates in the nuclear localization of URI1 and increases its transcriptional corepressor activity., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; RGS6 inhibited the transcriptional repressor activity of DMAP1., [RefSeq, PubMed]; This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to replication foci throughout S phase by interacting directly with the N-terminus of DNA methyltransferase 1. During late S phase, histone deacetylase 2 is added to this complex, providing a means to deacetylate histones in transcriptionally inactive heterochromatin following replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility gene 101 and the pro-apoptotic death-associated protein 6, among others. Alternatively spliced transcript variants encoding the same protein 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": 1, "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": 10, "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": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K001;D3DPY8;Q0JSM4;Q5TG41;Q7Z3H7;Q9H0S8;Q9P2C2", "ec_number_list": "", "go_molecular_function": "GO:0003714 transcription corepressor activity;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0035267 NuA4 histone acetyltransferase complex", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006281 DNA repair;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q9NPF5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96C00-1", "uniprot_id": "ZBTB9_HUMAN", "mass": 50602.0, "length": 473, "protein_name": "Zinc finger and BTB domain-containing protein 9", "gene_name": "ZBTB9", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 9", "refseq_ac": "NP_689948", "gene_names_uniprotkb": "ZBTB9", "gene_names_refseq": "ZBTB9; ZNF919", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 9", "protein_names_refseq": "zinc finger and BTB domain-containing protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:221504)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;18669648;19851445;24366607;25114211;25218447;25755297;25772364;27920218;28063628;29242379;29393594;29632046;30379171;30429286;31154438;31844290;31848261;32161166;32387766;32488085;32938616;32983136;33592498;33936100;33968037;34171305;34357683;35051231;35154160;35580925;36010968", "class_list": "", "function": "May be involved in transcriptional regulation., [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": 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": 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": "A2AB19", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;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_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": 3.5, "record_id": "Q96C00-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VUJ9-1", "uniprot_id": "DRC8_HUMAN", "mass": 29714.0, "length": 269, "protein_name": "Dynein regulatory complex protein 8", "gene_name": "DRC8", "organism": "Human", "refseq_name": "dynein regulatory complex protein 8 isoform b", "refseq_ac": "NP_001137415", "gene_names_uniprotkb": "DRC8; EFCAB2", "gene_names_refseq": "CFAP200; DRC8; EFCAB2", "protein_names_uniprotkb": "Dynein regulatory complex protein 8; EF-hand calcium-binding domain-containing protein 2", "protein_names_refseq": "EF-hand calcium binding domain 2; EF-hand calcium-binding domain-containing protein 2; dynein regulatory complex protein 8 isoform b; dynein regulatory complex protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:84288)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;27846572;28832583;32897882;32938616;33968037;35051231", "class_list": "", "function": "Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes., [UniProtKB, UniProtKB]; The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 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": 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": "B4DZE9;Q59G23;Q9BS36", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005930 axoneme;GO:0097228 sperm principal piece;GO:0043226 organelle", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0003341 cilium movement", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q5VUJ9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16206-1", "uniprot_id": "ENOX2_HUMAN", "mass": 70082.0, "length": 610, "protein_name": "Ecto-NOX disulfide-thiol exchanger 2", "gene_name": "ENOX2", "organism": "Human", "refseq_name": "ecto-NOX disulfide-thiol exchanger 2 isoform a", "refseq_ac": "NP_001268665", "gene_names_uniprotkb": "ENOX2; COVA1", "gene_names_refseq": "APK1; COVA1; ENOX2; tNOX", "protein_names_uniprotkb": "Ecto-NOX disulfide-thiol exchanger 2; APK1 antigen; Cytosolic ovarian carcinoma antigen 1; Tumor-associated hydroquinone oxidase; tNOX", "protein_names_refseq": "APK1 antigen; cytosolic ovarian carcinoma antigen 1; ecto-NADPH oxidase disulfide-thiol exchanger 2; ecto-NOX disulfide-thiol exchanger 2 isoform a; tumor-associated NADH oxidase; tumor-associated hydroquinone oxidase", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); long QT syndrome 16 (Disease Ontology:DOID:0070533); familial hypertrophic cardiomyopathy (Disease Ontology:DOID:0080326); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:10495)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "10354495;11237011;11412089;11437345;11488599;11888291;11941450;12356293;18452278;22659163;23033978;24906676;27271588;28122359;28411811;28904123;29557506;31635402;31844290;32157095;32387766;32938616;33298915;33912179;33968037;34509645;35051231;37026766;37061217;39406892;8150545;9046026;9932650", "class_list": "", "function": "ENOX2 NADH Oxidase: A BCR-ABL1-Dependent Cell Surface and Secreted Redox Protein in Chronic Myeloid Leukemia., [RefSeq, PubMed]; ENOX2 inhibition enhances infiltration of effector memory T-cell and mediates response to chemotherapy in immune-quiescent nasopharyngeal carcinoma., [RefSeq, PubMed]; May be involved in cell growth. Probably acts as a terminal oxidase of plasma electron transport from cytosolic NAD(P)H via hydroquinones to acceptors at the cell surface. Hydroquinone oxidase activity alternates with a protein disulfide-thiol interchange/oxidoreductase activity which may control physical membrane displacements associated with vesicle budding or cell enlargement. The activities oscillate with a period length of 22 minutes and play a role in control of the ultradian cellular biological clock., [UniProtKB, PubMed, PubMed]; The findings support a role for arNOX as a major source of oxidative damage leading to cross-linking of skin proteins., [RefSeq, PubMed]; The tumor-associated NADH oxidase (tNOX)-mediated modulation of the NAD+ concentration and SIRT1 are involved in oxaliplatin-induced apoptosis., [RefSeq, PubMed]; These findings not only shed light on the molecular mechanism of the anticancer properties of capsaicin, but also the transcription regulation of tNOX expression that may potentially explain how POU3F2 is associated with tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a tumor-specific member of the ECTO-NOX family of genes that encode cell surface NADH oxidases. The encoded protein has two enzymatic activities: catalysis of hydroquinone or NADH oxidation, and protein disulfide interchange. The protein also displays prion-like properties. 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": 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": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K197;A8K1C2;Q5VTJ1;Q5VTJ2;Q8WUX0;Q9NTP6;Q9UH82", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0022900 electron transport chain;GO:0007624 ultradian rhythm", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q16206-1", "record_type": "protein" } ]