[ { "uniprot_canonical_ac": "Q9P2K2-1", "uniprot_id": "TXD16_HUMAN", "mass": 93572.0, "length": 825, "protein_name": "Thioredoxin domain-containing protein 16", "gene_name": "TXNDC16", "organism": "Human", "refseq_name": "thioredoxin domain-containing protein 16 isoform 2 precursor", "refseq_ac": "NP_001153519", "gene_names_uniprotkb": "TXNDC16; ERP90; KIAA1344", "gene_names_refseq": "ERp90; KIAA1344; TXNDC16", "protein_names_uniprotkb": "Thioredoxin domain-containing protein 16", "protein_names_refseq": "thioredoxin domain-containing protein 16 isoform 2 precursor; thioredoxin domain-containing protein 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:57544)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "10.1101/2023.09.13.557529;11237011;21359175;23481700;24190977;24715725;25122923;25576301;25645385;25880248;25892735;26375851;26992070;27862975;27920218;28228285;28649982;28832583;28834231;28904123;29242379;29508533;29557506;29632711;29769354;29786170;30315122;30429286;30779550;31154438;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33592498;33717175;33912179;33968037;34185709;34357683;34509645;35051231;35251023;35318648;35580925;36010968;36241641;37074911;37938771", "class_list": "", "function": "In addition to reported occurrence as a soluble endoplasmic reticulum-luminal glycoprotein, TXNDC16 shows endoplasmic reticulum-associated subcellular localization in cytosol, as confirmed by confocal microscopy, molecular mass shift, flow cytometry, [RefSeq, PubMed]; The function of ERp90 is related to substrate recruitment or delivery to the ERAD retrotranslocation machinery by ERFAD. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 9562, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A5PKW9;A7E260;A7MD07;B9EH67;Q9H9W7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9P2K2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VYS8-1", "uniprot_id": "TUT7_HUMAN", "mass": 171229.0, "length": 1495, "protein_name": "Terminal uridylyltransferase 7", "gene_name": "TUT7", "organism": "Human", "refseq_name": "terminal uridylyltransferase 7 isoform 1", "refseq_ac": "NP_001171988", "gene_names_uniprotkb": "TUT7; HS2; KIAA1711; ZCCHC6", "gene_names_refseq": "PAPD6; TENT3B; TUT7; ZCCHC6", "protein_names_uniprotkb": "Terminal uridylyltransferase 7; 2.7.7.52; TUTase 7; Zinc finger CCHC domain-containing protein 6", "protein_names_refseq": "PAP associated domain containing 6; TUTase 7; terminal uridylyltransferase 7 isoform 1; terminal uridylyltransferase 7; zinc finger CCHC domain-containing protein 6; zinc finger CCHC-type containing 6; zinc finger, CCHC domain containing 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:79670); (R-HSA-429947); (R-HSA-9819196); (R-HSA-9820865)", "pathway_count": 4, "publication_count": 112, "publication_id_list": "10637334;10882133;11237011;11283721;11889047;1355481;14583602;14749774;15475613;16141059;16284618;17052452;17245413;17353264;17595167;18172165;18452278;18625844;18669648;19239894;19413330;19558367;19651622;19703396;20068231;21406692;22209328;22299025;22645359;22898984;23186163;23481700;23934149;24278031;24715725;25480299;25576301;25645385;25979828;26154972;26360614;26375851;26951377;26992070;27062923;27846572;27920218;28218747;28228285;28446606;28459456;28459457;28514659;28649982;28671666;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30122351;30192525;30315122;30410026;30429286;31154438;31217245;31630170;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32526260;32897882;32938616;32983136;33141586;33592498;33633747;33691108;33717175;33912179;33968037;34087483;34185709;34267371;34405274;34509645;34932366;34949722;35051231;35402882;35580925;36010968;36071058;36074823;36241641;36284347;36497000;39302247;9099687", "class_list": "", "function": "High ZCCHC6 expression is associated with head and neck squamous cell carcinoma., [RefSeq, PubMed]; RNA uridyl transferases TUT4/7 differentially regulate miRNA variants depending on the cancer cell type., [RefSeq, PubMed]; TENT2, TUT4, and TUT7 selectively regulate miRNA sequence and abundance. Publication Status: Online-Only, [RefSeq, PubMed]; Terminal Uridylyltransferases TUT4/7 Regulate microRNA and mRNA Homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; Uridylyltransferase that mediates the terminal uridylation of mRNAs with short (less than 25 nucleotides) poly(A) tails, hence facilitating global mRNA decay (PubMed:19703396, PubMed:25480299). Essential for both oocyte maturation and fertility. Through 3' terminal uridylation of mRNA, sculpts, with TUT7, the maternal transcriptome by eliminating transcripts during oocyte growth (By similarity). Involved in microRNA (miRNA)-induced gene silencing through uridylation of deadenylated miRNA targets (PubMed:25480299). Also functions as an integral regulator of microRNA biogenesiS using 3 different uridylation mechanisms (PubMed:25979828). Acts as a suppressor of miRNA biogenesis by mediating the terminal uridylation of some miRNA precursors, including that of let-7 (pre-let-7). Uridylated pre-let-7 RNA is not processed by Dicer and undergo degradation. Pre-let-7 uridylation is strongly enhanced in the presence of LIN28A (PubMed:22898984). In the absence of LIN28A, TUT7 and TUT4 monouridylate group II pre-miRNAs, which includes most of pre-let7 members, that shapes an optimal 3' end overhang for efficient processing (PubMed:25979828, PubMed:28671666). Add oligo-U tails to truncated pre-miRNAS with a 5' overhang which may promote rapid degradation of non-functional pre-miRNA species (PubMed:25979828). Does not play a role in replication-dependent histone mRNA degradation (PubMed:18172165). Due to functional redundancy between TUT4 and TUT7, the identification of the specific role of each of these proteins is difficult (PubMed:18172165, PubMed:19703396, PubMed:22898984, PubMed:25480299, PubMed:25979828, PubMed:28671666). TUT4 and TUT7 restrict retrotransposition of long interspersed element-1 (LINE-1) in cooperation with MOV10 counteracting the RNA chaperonne activity of L1RE1. TUT7 uridylates LINE-1 mRNAs in the cytoplasm which inhibits initiation of reverse transcription once in the nucleus, whereas uridylation by TUT4 destabilizes mRNAs in cytoplasmic ribonucleoprotein granules (PubMed:30122351)., [UniProtKB, PubMed, PubMed, PubMed, 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": 11, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 31, "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": "Q5H9T0;Q5VYS5;Q5VYS7;Q658Z9;Q659A2;Q6MZJ3;Q8N5F0;Q96N57;Q96NE8;Q9C0F2;Q9H8M6", "ec_number_list": "3.6.4.13;2.7.7.52;2.7.7.19", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0035198 miRNA binding;GO:0070569 uridylyltransferase activity;GO:0050265 RNA uridylyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0001556 oocyte maturation;GO:0010586 miRNA metabolic process;GO:0031054 pre-miRNA processing;GO:0031123 RNA 3'-end processing;GO:1990074 polyuridylation-dependent mRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q5VYS8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H977-1", "uniprot_id": "WDR54_HUMAN", "mass": 35891.0, "length": 334, "protein_name": "WD repeat-containing protein 54", "gene_name": "WDR54", "organism": "Human", "refseq_name": "WD repeat-containing protein 54 isoform a", "refseq_ac": "NP_001307752", "gene_names_uniprotkb": "WDR54", "gene_names_refseq": "WDR54", "protein_names_uniprotkb": "WD repeat-containing protein 54", "protein_names_refseq": "WD repeat-containing protein 54 isoform a; WD repeat-containing protein 54", "tax_id": 9606, "disease": "", "pathway": " (hsa:84058)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "10.1101/2023.09.13.557529;15592455;18446792;18991276;21993680;23481700;24715725;25418920;25576301;26811146;26992070;27600516;27846572;27893789;27920218;28218747;28228285;28446606;28832583;28834231;28904123;29242379;29437277;29508533;29557506;29632711;29987896;30315122;30410026;30429286;30458214;30524438;30779550;31092671;31154438;31217245;31530632;31844290;32157095;32161166;32265295;32488085;32502341;32897882;32938616;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34932366;35051231;35318648;35580925;36241641", "class_list": "", "function": "Plays a role in the adhesion and fusion of the sperm-oocyte membrane through its interactions with IZUMO1 and IZUMO1R/JUNO (By similarity). When cross-linked to form dimers and trimers, it has a regulatory effect on ERK signaling pathway activity in response to EGF stimulation. Colocalizes with the EGF receptor in WDR54-specific vesicle where it sustains the internalization and controls the degradation of the EGF receptor after EGF stimulation (PubMed:30458214)., [UniProtKB, PubMed, UniProtKB]; WDR54 was found to be elevated and associated with prognosis in patients with colorectal cancer (CRC). Functional assays showed that WDR54 facilitates the aggressiveness of CRC cells and promotes tumor growth in mice. Knockdown of WDR54 sensitizes CRC cells to the proliferation-inhibitory effect of SHP2 inhibitor, an effect involving their common function in regulating AKT and ERK 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": 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": 1, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 10, "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": "B9A049;D6W5I3;Q53H85;Q86V45", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0031514 motile cilium;GO:0031982 vesicle", "go_biological_process": "GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization;GO:0007338 single fertilization;GO:0002091 negative regulation of receptor internalization;GO:0042058 regulation of epidermal growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9H977-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6IPR3-1", "uniprot_id": "TYW3_HUMAN", "mass": 29794.0, "length": 259, "protein_name": "tRNA wybutosine-synthesizing protein 3 homolog", "gene_name": "TYW3", "organism": "Human", "refseq_name": "tRNA wybutosine-synthesizing protein 3 homolog isoform 2", "refseq_ac": "NP_001156388", "gene_names_uniprotkb": "TYW3; C1orf171", "gene_names_refseq": "C1orf171; TYW3", "protein_names_uniprotkb": "tRNA wybutosine-synthesizing protein 3 homolog; 2.1.1.282; tRNA(Phe) 7-((3-amino-3-carboxypropyl)-4-demethylwyosine(37)-N(4))-methyltransferase; tRNA-yW-synthesizing protein 3", "protein_names_refseq": "tRNA wybutosine-synthesizing protein 3 homolog isoform 2; tRNA wybutosine-synthesizing protein 3 homolog; tRNA(Phe) 7-((3-amino-3-carboxypropyl)-4-demethylwyosine(37)-N(4))- methyltransferase; tRNA-yW-synthesizing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:127253); (R-HSA-6782861)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "11237011;15248782;20739293;20972222;22761755;23887145;25418920;26992070;27846572;28063628;28832583;28834231;29242379;29393594;29557506;29632046;31844290;32157095;32938616;33717175;34087483;35580925;36241641", "class_list": "", "function": "Probable S-adenosyl-L-methionine-dependent methyltransferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA., [UniProtKB, UniProtKB, UniProtKB]; S-adenosyl-L-methionine-dependent methyltransferase involved in the biosynthesis of wybutosine, a hyper modified guanosine with a tricyclic base located at position 37 of eukaryotic phenylalanine tRNA (tRNA(Phe)) that contributes to maintenance of the translational reading frame. Catalyzes the methylation of 4-demethylwyosine, generating intermediates required for the formation of mature wybutosine., [UniProtKB, UniProtKB]; Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TYW3 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[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": 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": "B4DSP9;E9PGR7;Q5HYJ0;Q8N7L1", "ec_number_list": "2.1.1.282", "go_molecular_function": "GO:0008175 tRNA methyltransferase activity;GO:0008168 methyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0030488 tRNA methylation;GO:0031591 wybutosine biosynthetic process;GO:0008033 tRNA processing;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q6IPR3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NNM8-1", "uniprot_id": "TTL13_HUMAN", "mass": 93645.0, "length": 815, "protein_name": "Tubulin polyglutamylase TTLL13", "gene_name": "TTLL13", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TTLL13; TTLL13P", "gene_names_refseq": "", "protein_names_uniprotkb": "Tubulin polyglutamylase TTLL13; 6.3.2.-; Tubulin tyrosine ligase like 13; Tubulin tyrosine ligase-like family member 13 pseudogene; Tubulin--tyrosine ligase-like protein 13", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:440307); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "11237011;1520276;15890843;16901895;17244817;17244818;17360631;17499049;18331838;19524510;19531357;20519502;21074048;23358242;25103237;25468068;25957412;25959773;28904123;29146868;29557506;31154438;33912179;35051231;39894887;40593606;7452228", "class_list": "", "function": "Polyglutamylase which modifies tubulin, generating polyglutamate side chains of variable lengths on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin (PubMed:40593606). Mediates ATP-dependent polyglutamate side-chain elongation of the polyglutamylation reaction but not the initiation step (By similarity). Preferentially modifies the alpha-tubulin tail over a beta-tail (By similarity). Mediates spindle-pole microtubule glutamylation in a CFAP100-dependent manner, a modification necessary for maintaining spindle-pole integrity and ensuring proper spindle assembly (PubMed:40593606)., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "3.6.5.-;6.3.2.-;6.-.-.-", "go_molecular_function": "GO:0070740 tubulin-glutamic acid ligase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0015631 tubulin binding;GO:0106438 protein-glutamic acid ligase activity, elongating", "go_cellular_component": "GO:0005829 cytosol;GO:0005874 microtubule;GO:0036064 ciliary basal body", "go_biological_process": "GO:0018095 protein polyglutamylation;GO:0001578 microtubule bundle formation", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "A6NNM8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H0E7-1", "uniprot_id": "UBP44_HUMAN", "mass": 81185.0, "length": 712, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 44", "gene_name": "USP44", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 44", "refseq_ac": "NP_001035862", "gene_names_uniprotkb": "USP44", "gene_names_refseq": "USP44", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 44; 3.4.19.12; Deubiquitinating enzyme 44; Ubiquitin thioesterase 44; Ubiquitin-specific-processing protease 44", "protein_names_refseq": "deubiquitinating enzyme 44; ubiquitin carboxyl-terminal hydrolase 44; ubiquitin specific protease 44; ubiquitin thioesterase 44; ubiquitin thiolesterase 44; ubiquitin-specific-processing protease 44", "tax_id": 9606, "disease": "", "pathway": " (hsa:84101); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10444327;10982817;11230166;11237011;11566882;11923872;12917689;12917691;14661020;14715245;15053880;15916963;16214042;16901786;16964248;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19424180;19651622;19838211;19874889;19910467;20096447;20228808;20368735;20402667;20501646;20505756;21239494;21362556;21571647;21596315;21659512;21849505;21853124;21962518;22029577;22085928;22128162;22216260;22681888;22692537;23159851;23395819;23486064;23615962;23824326;23825189;24056413;24260525;24493797;24896179;25197364;25305019;25578727;26992070;27880911;30379171;31968013;31998317;32644293;32897882;36483601;37204480;37752233;37816258;38775808;7578059", "class_list": "", "function": "A dynamic balance of ubiquitination by the APC and deubiquitination by USP44 contributes to the generation of the switch-like transition controlling anaphase entry, [RefSeq, PubMed]; Deubiquitinase that plays a key regulatory role in the spindle assembly checkpoint or mitotic checkpoint by preventing premature anaphase onset. Acts by specifically mediating deubiquitination of CDC20, a negative regulator of the anaphase promoting complex/cyclosome (APC/C) (PubMed:17443180). Deubiquitination of CDC20 leads to stabilize the MAD2L1-CDC20-APC/C ternary complex (also named mitotic checkpoint complex), thereby preventing premature activation of the APC/C (PubMed:17443180). Promotes association of MAD2L1 with CDC20 and reinforces the spindle assembly checkpoint (PubMed:17443180). Also promotes the deubiquitination of histone H2A and H2B (PubMed:23615962, PubMed:27880911). Recruited to RNF8/RNF168-ubiquitinated chromatin surrounding double stranded breaks (DSBs), promotes hydrolysis of such ubiquitin conjugates, thus negatively regulating protein recruitment to damaged chromatin (PubMed:23615962). Participates in nucleotide excision repair (NER) pathway by deubiquitinating DDB2 to prevent its premature degradation so it can remain on damaged chromatin (By similarity). Promotes FOXP3 stabilization through 'Lys-48'-linked deubiquitination leading to increased stability and increased regulatory T-cell lineage stability (PubMed:32644293). Also plays a positive role in innate immune response to DNA viruses by deubiquitinating STING1, selectively removing its 'Lys-48'-linked polyubiquitin chains and stabilizing it (PubMed:31968013)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Integrated network findings reveal ubiquitin-specific protease 44 overexpression suppresses tumorigenicity of liver cancer., [RefSeq, PubMed]; MAD2 activates IGF1R/PI3K/AKT pathway and promotes cholangiocarcinoma progression by interfering USP44/LIMA1 complex., [RefSeq, PubMed]; RNA-binding protein NOVA1 promotes acute T-lymphocyte leukemia progression by stabilizing USP44 mRNA., [RefSeq, PubMed]; The protein encoded by this gene is a protease that functions as a deubiquitinating enzyme. The encoded protein is thought to help regulate the spindle assembly checkpoint by preventing early anaphase onset. This protein specifically deubiquitinates CDC20, which stabilizes the anaphase promoting complex/cyclosome. [provided by RefSeq, Dec 2016]., [RefSeq]; USP44 Overexpression Drives a MYC-Like Gene Expression Program in Neuroblastoma through Epigenetic Reprogramming., [RefSeq, PubMed]; USP44 accelerates the growth of T-cell acute lymphoblastic leukemia through interacting with WDR5 and repressing its ubiquitination. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RDW3", "ec_number_list": "3.4.19.12", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004843 cysteine-type deubiquitinase activity;GO:0101005 deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0001650 fibrillar center;GO:0000785 chromatin", "go_biological_process": "GO:0007059 chromosome segregation;GO:0016579 protein deubiquitination;GO:0051301 cell division;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0090266 regulation of mitotic cell cycle spindle assembly checkpoint", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q9H0E7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UIW0-1", "uniprot_id": "VAX2_HUMAN", "mass": 30874.0, "length": 290, "protein_name": "Ventral anterior homeobox 2", "gene_name": "VAX2", "organism": "Human", "refseq_name": "ventral anterior homeobox 2", "refseq_ac": "NP_036608", "gene_names_uniprotkb": "VAX2", "gene_names_refseq": "DRES93; VAX2", "protein_names_uniprotkb": "Ventral anterior homeobox 2", "protein_names_refseq": "ventral anterior homeobox 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:25806)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10485894;11237011;16953426;19913121;22095910;26929985;29947570;33968037;37217939;38253038", "class_list": "", "function": "Although inappropriate promoter methylation was not invariantly associated with reduced transcript expression, a significant association was apparent for the ARHGEF4, PON3, STAT5a, and VAX2 gene transcripts (P<0.05). Herein, we present the first genome-wide DNA methylation analysis in a unique HG-NMIBC cohort, showing extensive and discrete methylation changes relative to normal bladder and low-intermediate-grade tumor, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008]., [RefSeq]; This study raises the interesting possibility for evaluating VAX2 as a candidate gene for cone dystrophy., [RefSeq, PubMed]; Transcription factor that may function in dorsoventral specification of the forebrain. Regulates the expression of Wnt signaling antagonists including the expression of a truncated TCF7L2 isoform that cannot bind CTNNB1 and acts therefore as a potent dominant-negative Wnt antagonist. Plays a crucial role in eye development and, in particular, in the specification of the ventral optic vesicle (By similarity). May be a regulator of axial polarization in the retina., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "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": "Q53Y33", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0031490 chromatin 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:0030900 forebrain development;GO:0007417 central nervous system development;GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9UIW0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N2K1-1", "uniprot_id": "UB2J2_HUMAN", "mass": 28898.0, "length": 259, "protein_name": "Ubiquitin-conjugating enzyme E2 J2", "gene_name": "UBE2J2", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 J2 isoform 2", "refseq_ac": "NP_477515", "gene_names_uniprotkb": "UBE2J2; NCUBE2", "gene_names_refseq": "NCUBE-2; NCUBE2; PRO2121; UBC6; UBE2J2", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 J2; 2.3.2.23; E2 ubiquitin-conjugating enzyme J2; NCUBE-2; Non-canonical ubiquitin-conjugating enzyme 2", "protein_names_refseq": "E2 ubiquitin-conjugating enzyme J2; non-canonical ubiquitin-conjugating enzyme 2; ubiquitin conjugating enzyme 6; ubiquitin-conjugating enzyme E2 J2 isoform 2; ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast); yeast UBC6 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:118424); (R-HSA-8866654); (R-HSA-983168)", "pathway_count": 3, "publication_count": 124, "publication_id_list": "10562279;11062501;11237011;11278356;11350924;11740563;12646216;14734113;15215855;15215856;15224091;15224092;15571818;16307923;16595681;16849449;16868077;16954532;17108083;17130289;17726030;18316726;18359941;18662542;18719106;19028597;19208625;19352404;19410543;19452197;19489725;19723507;19851334;19874575;19940261;20061386;21203937;21329877;21396873;21554508;22021426;22496338;2261476;23481700;23783831;24662292;24715725;24807418;24958902;24979766;25030448;25170678;25645385;25936802;26086376;26154972;26210183;26216882;26344566;26350214;26711259;26992070;27569044;27597759;27600516;27798111;27920218;28218747;28228285;28649982;28743740;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29508533;29557506;29632711;29786170;30315122;30410026;30484775;30524438;30658189;30779550;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;34171305;34509645;34932366;35051231;35251023;35318648;35580925;36010968;36215666;36241641;36528027;37217939;37938771;8625414;8991089;9380723;9668046", "class_list": "", "function": "Analysis of involvement of E2 enzymes in specifying polyubiquitin chain assembly, [RefSeq, PubMed]; Catalyzes the covalent attachment of ubiquitin to other proteins. Seems to function in the selective degradation of misfolded membrane proteins from the endoplasmic reticulum (ERAD) (By similarity). In cooperation with the GATOR2 complex, catalyzes 'Lys-6'-linked ubiquitination of NPRL2 (PubMed:36528027)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; 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 located in the membrane of the endoplasmic reticulum. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]., [RefSeq]; UBE2G2 was crucial for the degradation of various immunoreceptors. UBE2J2, on the other hand, counteracted US2-induced endoplasmic reticulum-associated protein degradation by downregulating TRC8 expression., [RefSeq, PubMed]; UBE2J2 as an important partner of MARCH6 for regulated degradation of the rate-limiting enzymes HMGCR and SQLE in cholesterol biosynthesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8MYC7;Q504T9;Q96N26;Q96T84", "ec_number_list": "2.3.2.27;6.2.1.45;2.3.2.24;2.3.2.23;2.3.2.26;2.3.2.31;2.3.2.-;6.2.1.-;3.6.4.6;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:0005524 ATP binding;GO:0031625 ubiquitin protein ligase binding;GO:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:1903955 positive regulation of protein targeting to mitochondrion;GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0036503 ERAD pathway;GO:0006986 response to unfolded protein", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "Q8N2K1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5J1-1", "uniprot_id": "UTP18_HUMAN", "mass": 62004.0, "length": 556, "protein_name": "U3 small nucleolar RNA-associated protein 18 homolog", "gene_name": "UTP18", "organism": "Human", "refseq_name": "U3 small nucleolar RNA-associated protein 18 homolog", "refseq_ac": "NP_057085", "gene_names_uniprotkb": "UTP18; CDABP0061; CGI-48; WDR50", "gene_names_refseq": "CGI-48; UTP18; WDR50", "protein_names_uniprotkb": "U3 small nucleolar RNA-associated protein 18 homolog; WD repeat-containing protein 50", "protein_names_refseq": "U3 small nucleolar RNA-associated protein 18 homolog; UTP18, small subunit (SSU) processome component, homolog; WD repeat domain 50; WD repeat-containing protein 50", "tax_id": 9606, "disease": "", "pathway": " (hsa:51096); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 152, "publication_id_list": "10606270;11081632;11237011;11922599;11935223;11978965;12068309;12150911;12417735;12429849;15199136;15302935;16037817;16043514;16381836;16565220;16738141;16782898;16964243;17081983;17189298;17287340;17353269;17412707;17636026;18065403;18318008;18438418;18452278;18491316;18669648;18767875;19007248;19033376;19106111;19332556;19367720;19413330;19415658;19463982;19564402;19651622;19690332;19691289;19801658;20038530;20047967;20056613;20068231;20166139;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21406692;22072790;22190735;22195017;22916032;23186163;23391857;23439679;23481700;23482395;2388630;24086612;24275569;24424021;24550520;24714562;24715725;25411247;25418920;25525153;25576301;25645385;25653167;25810538;25851604;25969445;26085946;26154972;26196125;26237581;26728094;26992070;27084949;27600516;27846572;27893789;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30833945;31154438;31217245;31530632;31844290;31848261;31937595;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33465208;33537174;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34516797;35051231;35580925;36215666;36241641;37938771;39302247;40596516;9211966;9482744;9512526", "class_list": "", "function": "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. Involved in nucleolar processing of pre-18S ribosomal RNA., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "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": "Q9H4N6", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0034388 Pwp2p-containing subcomplex of 90S preribosome;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0032040 small-subunit processome", "go_biological_process": "GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA;GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 15.6, "record_id": "Q9Y5J1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P38435-1", "uniprot_id": "VKGC_HUMAN", "mass": 87561.0, "length": 758, "protein_name": "Vitamin K-dependent gamma-carboxylase", "gene_name": "GGCX", "organism": "Human", "refseq_name": "vitamin K-dependent gamma-carboxylase isoform 1", "refseq_ac": "NP_000812", "gene_names_uniprotkb": "GGCX; GC", "gene_names_refseq": "GGCX; VKCFD1; VKGC", "protein_names_uniprotkb": "Vitamin K-dependent gamma-carboxylase; 4.1.1.90; Gamma-glutamyl carboxylase; Peptidyl-glutamate 4-carboxylase; VKGC; Vitamin K gamma glutamyl carboxylase", "protein_names_refseq": "peptidyl-glutamate 4-carboxylase; vitamin K-dependent gamma-carboxylase isoform 1; vitamin K-dependent gamma-carboxylase", "tax_id": 9606, "disease": "urolithiasis (Disease Ontology:DOID:0080653); combined deficiency of vitamin K-dependent clotting factors 1 (Disease Ontology:DOID:0112173); vitamin K deficiency bleeding (Disease Ontology:DOID:11249); body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency (MONDO:MONDO:0012570)", "pathway": " (hsa:2677); (R-HSA-159740); (R-HSA-9673240)", "pathway_count": 3, "publication_count": 97, "publication_id_list": "10.1101/2023.09.13.557529;10068650;10910912;10917896;10934213;11071668;11237011;11513608;11570873;12963724;15287948;16011462;16979907;17073445;17110937;1749935;19159218;19413330;20068231;24190977;25418920;25576301;25645385;25753038;25880248;25892735;26154972;2664828;26768311;26811146;26929215;26992070;2738071;27397612;27846572;27862975;27920218;28228285;28832583;28904123;29237092;29242379;29393594;29557506;29632046;29741879;29769354;29786170;29789417;30315122;30410026;30459171;30779550;31154438;31492838;31611695;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32938616;32983136;33214551;33298915;33592498;33717175;33912179;33968037;34019948;34087483;34171305;34725712;34816548;35051231;35251023;35318648;35580925;35773773;36010968;36215666;36284347;3667614;37074911;37653796;37938771;38665916;39880037;39880952;6967872;8336730;8530480;9166845;9845520", "class_list": "", "function": "Association among VKORC1 rs9923231, CYP4F2 rs2108622, GGCX rs11676382 polymorphisms and acute ischemic stroke., [RefSeq, PubMed]; Crystallization of human GGCX., [RefSeq, PubMed]; GGCX variants leading to biallelic deficiency to gamma-carboxylate GRP cause skin laxity in VKCFD1 patients., [RefSeq, PubMed]; Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant epoxidation of vitamin K hydroquinone to vitamin K epoxide (PubMed:17073445, PubMed:39880952, PubMed:39880037). Couples epoxidation and carboxylation in the same active site (PubMed:39880952, PubMed:39880037). Catalyzes gamma-carboxylation of blood coagulation factors (F2, F7, F9 and F10) and anticoagulants such as PROC, which are essential for thrombosis(PubMed:17073445, PubMed:39880037). Catalyzes gamma-carboxylation of osteocalcin/BGLAP, which is essential for bone metabolism (PubMed:17073445, PubMed:39880952). Catalyzes gamma-carboxylation of matrix Gla protein (MGP) and other transmembrane gamma-Gla proteins such as PRRG2, which are essential for calcium homeostasis and haemostasis (PubMed:17073445, PubMed:39880037)., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]., [RefSeq]; [Partial research progress of GGCX pathogenic variation associated phenotypes]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 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": 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": 3, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 4, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B4DMC5;E9PEE1;Q14415;Q6GU45", "ec_number_list": "3.4.21.5;3.4.21.22;3.4.21.6;3.4.21.69;3.4.21.21;4.1.1.90", "go_molecular_function": "GO:0019842 vitamin binding;GO:0008289 lipid binding;GO:0008488 gamma-glutamyl carboxylase activity", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0036211 protein modification process;GO:1903011 negative regulation of bone development;GO:0007596 blood coagulation;GO:0046929 negative regulation of neurotransmitter secretion;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "P38435-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96ET8-1", "uniprot_id": "TV23C_HUMAN", "mass": 31105.0, "length": 276, "protein_name": "Golgi apparatus membrane protein TVP23 homolog C", "gene_name": "TVP23B; TVP23C-CDRT4; TVP23C", "organism": "Human", "refseq_name": "uncharacterized protein LOC100533496", "refseq_ac": "NP_001191407", "gene_names_uniprotkb": "TVP23B; TVP23C-CDRT4; TVP23C; FAM18B2; Nbla10383; TVP23B; TVP23C-CDRT4; TVP23C", "gene_names_refseq": "FAM18B2-CDRT4; TVP23C-CDRT4", "protein_names_uniprotkb": "Golgi apparatus membrane protein TVP23 homolog C", "protein_names_refseq": "FAM18B2-CDRT4 readthrough; uncharacterized protein LOC100533496", "tax_id": 9606, "disease": "", "pathway": " (hsa:100533496); (hsa:201158)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "11237011;12880961;19413330;19651622;23481700;25576301;31844290;33717175;34433824;38253038", "class_list": "", "function": "This locus represents naturally occurring readthrough transcription between the neighboring TVP23C (trans-golgi network vesicle protein 23 homolog) and CDRT4 (CMT1A duplicated region transcript 4) genes on chromosome 17. Alternative splicing results in multiple transcript variants, one of which encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Apr 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q3LIC7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0016192 vesicle-mediated transport;GO:0009306 protein secretion", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q96ET8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H313-1", "uniprot_id": "TTYH1_HUMAN", "mass": 49051.0, "length": 450, "protein_name": "Protein tweety homolog 1", "gene_name": "TTYH1", "organism": "Human", "refseq_name": "protein tweety homolog 1 isoform 2", "refseq_ac": "NP_001005367", "gene_names_uniprotkb": "TTYH1", "gene_names_refseq": "TTYH1", "protein_names_uniprotkb": "Protein tweety homolog 1; Volume-regulated anion channel subunit TTYH1; hTTY1", "protein_names_refseq": "hTTY1; protein tweety homolog 1 isoform 2; protein tweety homolog 1; volume-regulated anion channel subunit TTYH1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57348)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10950931;11237011;15010458;17116230;18260827;18577513;28607172;29557506;31154438;34385445;35051231;37870193", "class_list": "", "function": "Ca(2+)-independent, swelling-activated chloride channel, possibly involved in regulation of cell volume., [UniProtKB, PubMed]; Calcium-independent, swelling-dependent volume-regulated anion channel (VRAC-swell) which plays a pivotal role in the process of regulatory volume decrease (RVD) in the brain through the efflux of anions like chloride and organic osmolytes like glutamate., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Cryo-EM structures of the TTYH family reveal a novel architecture for lipid interactions. Publication Status: Online-Only, [RefSeq, PubMed]; Drosophila tweety facilitates autophagy to regulate mitochondrial homeostasis and bioenergetics in Glia., [RefSeq, PubMed]; In this report, we identify tweety-homolog 1 (Ttyh1), a membrane protein linked to neuronal development, as a potent driver of tumor microtube (TM)-mediated brain colonization by glioma cells., [RefSeq, PubMed]; Nedd4-2 differentially interacts with and regulates TTYH1-3, [RefSeq, PubMed]; Probable chloride channel., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-independent, volume-sensitive large conductance chloride(-) channel. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jan 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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "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": "B0VJY3;B0VJY4;B0VJY5;B2VAL9;Q5U682;Q68A17;Q6L750;Q6ZTE5;Q8WUU2", "ec_number_list": "1.8.-.-;1.8.5.1;1.11.1.-;5.6.1.6", "go_molecular_function": "GO:0072320 volume-sensitive chloride channel activity;GO:0005509 calcium ion binding;GO:0005229 intracellularly calcium-gated chloride channel activity;GO:0005254 chloride channel activity;GO:0005381 iron ion transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse;GO:0030868 smooth endoplasmic reticulum membrane;GO:0031527 filopodium membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0034220 monoatomic ion transmembrane transport;GO:0006821 chloride transport;GO:0006826 iron ion transport;GO:0015813 L-glutamate transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9H313-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A4UGR9-1", "uniprot_id": "XIRP2_HUMAN", "mass": 382300.0, "length": 3374, "protein_name": "Xin actin-binding repeat-containing protein 2", "gene_name": "XIRP2", "organism": "Human", "refseq_name": "xin actin-binding repeat-containing protein 2 isoform 2", "refseq_ac": "NP_001073278", "gene_names_uniprotkb": "XIRP2; CMYA3", "gene_names_refseq": "CMYA3; XIRP2", "protein_names_uniprotkb": "Xin actin-binding repeat-containing protein 2; Beta-xin; Cardiomyopathy-associated protein 3; Xeplin", "protein_names_refseq": "beta-xin; cardiomyopathy associated 3; cardiomyopathy-associated protein 3; myomaxin; xeplin; xin actin-binding repeat-containing protein 2 isoform 2; xin actin-binding repeat-containing protein 2; xin repeat protein 2", "tax_id": 9606, "disease": "depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:129446); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 3, "publication_count": 41, "publication_id_list": "10025409;10821263;11163272;11237011;15454575;16205742;20520587;23985323;24475916;25865352;26566883;26992070;28228285;28411811;28467828;28649982;28832583;29242379;29306897;29351928;29557506;30379171;30429286;31092671;32157095;32387766;32488085;32938616;32983136;33592498;33633747;33912179;33968037;34087483;34509645;34932366;35051231;35318648;35580925;36215666;37217939", "class_list": "", "function": "A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis, XIRP2 and DMRTA1., [RefSeq, PubMed]; Genetic information from this patient implies that genes involved in development and maintenance of extraocular muscles can cause congenital ocular motility disorders as well., [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]; Protects actin filaments from depolymerization (PubMed:15454575). Required for correct morphology of cell membranes and maturation of intercalated disks of cardiomyocytes via facilitating localization of XIRP1 and CDH2 to the termini of aligned mature cardiomyocytes (By similarity). Thereby required for correct postnatal heart development and growth regulation that is crucial for overall heart morphology and diastolic function (By similarity). Required for normal electrical conduction in the heart including formation of the infranodal ventricular conduction system and normal action potential configuration, as a result of its interaction with the cardiac ion channel components Scn5a/Nav1.5 and Kcna5/Kv1.5 (By similarity). Required for regular actin filament spacing of the paracrystalline array in both inner and outer hair cells of the cochlea, thereby required for maintenance of stereocilia morphology (By similarity)., [UniProtKB, PubMed, UniProtKB]; Report pathogenic XIRP1/2 rare variants in arrhythmogenic disorders such as sudden unexplained nocturnal death syndrome and Brugada syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Xin and XIRP2 define a novel actin-binding motif, [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": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 68, "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": "A0PJ94;B2BBS0;B2BBS1;B2BBS4;B3KVH0;J3KNB1;Q53R52;Q5MJ67;Q702N7;Q86T36;Q86T38;Q86T46;Q86T51;Q86T53;Q86T55;Q86T79;Q86TB6;Q8N1M9;Q8N3R5;Q8TBV6", "ec_number_list": "", "go_molecular_function": "GO:0051015 actin filament binding;GO:0051393 alpha-actinin binding;GO:0003779 actin binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005911 cell-cell junction;GO:0030018 Z disc;GO:0070161 anchoring junction", "go_biological_process": "GO:0007015 actin filament organization;GO:1903829 positive regulation of protein localization;GO:0110053 regulation of actin filament organization;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "A4UGR9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96SJ8-1", "uniprot_id": "TSN18_HUMAN", "mass": 27710.0, "length": 248, "protein_name": "Tetraspanin-18", "gene_name": "TSPAN18", "organism": "Human", "refseq_name": "tetraspanin-18", "refseq_ac": "NP_570139", "gene_names_uniprotkb": "TSPAN18; PRO9858", "gene_names_refseq": "TSPAN18; TSPAN", "protein_names_uniprotkb": "Tetraspanin-18; Tspan-18", "protein_names_refseq": "tetraspanin-18; tspan-18", "tax_id": 9606, "disease": "", "pathway": " (hsa:90139)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;12975309;23505562;24715725;26016498;30573509;32447449", "class_list": "", "function": "Meta-analysis results show no significant association between TSPAN18 gene and schizophrenia in the Han Chinese population indicating the gene is unlikely to be a major susceptibility gene for schizophrenia in this population. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the cell surface localization of ORAI1 and may participate in the regulation of Ca(2+) signaling and the VWF release in response to inflammatory stimuli., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; The findings identify Tspan18 as a novel regulator of endothelial cell Orai1/Ca2+ signaling and von Willebrand factor release in response to inflammatory stimuli., [RefSeq, PubMed]; These results confirm the significant association, in Han Chinese populations, of increased SCZ risk and the variant of the TSPAN18 gene containing the 'A' allele of SNP rs835784., [RefSeq, PubMed]; Tspan18 is a novel regulator of thrombo-inflammation. 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6UY44;Q8NBI9", "ec_number_list": "", "go_molecular_function": "GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0071944 cell periphery;GO:0016020 membrane", "go_biological_process": "GO:1990778 protein localization to cell periphery;GO:0006954 inflammatory response;GO:0017156 calcium-ion regulated exocytosis;GO:1903670 regulation of sprouting angiogenesis;GO:2001256 regulation of store-operated calcium entry", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q96SJ8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NNW7-1", "uniprot_id": "TRXR2_HUMAN", "mass": 56507.0, "length": 524, "protein_name": "Thioredoxin reductase 2, mitochondrial", "gene_name": "TXNRD2", "organism": "Human", "refseq_name": "thioredoxin reductase 2, mitochondrial isoform 1 precursor", "refseq_ac": "NP_006431", "gene_names_uniprotkb": "TXNRD2; KIAA1652; TRXR2", "gene_names_refseq": "GCCD5; SELZ; TR-BETA; TR3; TRXR2; TR; TXNR2; TXNRD2", "protein_names_uniprotkb": "Thioredoxin reductase 2, mitochondrial; 1.8.1.9; SelZ; Selenoprotein Z; TR-beta; Thioredoxin reductase TR3", "protein_names_refseq": "selenoprotein Z; thioredoxin reductase 2, mitochondrial isoform 1 precursor; thioredoxin reductase 2, mitochondrial; thioredoxin reductase 3; thioredoxin reductase TR3; thioredoxin reductase beta", "tax_id": 9606, "disease": "chromosome 22q11.2 deletion syndrome, distal (Disease Ontology:DOID:0060413); glucocorticoid deficiency 5 (Disease Ontology:DOID:0061244); familial glucocorticoid deficiency (Disease Ontology:DOID:0080620)", "pathway": " (hsa:10587); (R-HSA-3299685)", "pathway_count": 2, "publication_count": 97, "publication_id_list": "10029572;10215850;10455115;10514471;10521424;10608886;10656833;10833429;10919671;10982;11018045;11060283;11139407;11237011;11507097;11518528;11886899;11912930;12446202;12829378;15044467;15046979;15064408;15280035;15317809;15596429;15927447;16401067;16424062;16615992;1668270;16750198;16774913;16880213;17275676;17519234;1763037;17707404;18358825;18477386;18703498;18936159;19219623;19542232;1999334;20068231;20070187;20367259;20690882;2071038;21215271;21385867;21393238;21967640;22493009;22869735;22910329;23152058;23164639;23454490;23455484;24601690;25047527;25645385;26992070;28510447;29242379;29393594;32161166;34171305;34357683;3457020;35051231;3532102;35416905;3619451;36215666;3693360;38665916;39097530;5389100;60;6286671;6961438;7021796;7172448;7487923;807573;8379940;8428933;8452552;8663465;9295278;9369223;9639555;9726962;9923614", "class_list": "", "function": "Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant., [RefSeq, PubMed]; Involved in the control of reactive oxygen species levels and the regulation of mitochondrial redox homeostasis (PubMed:24601690). Maintains thioredoxin in a reduced state. May play a role in redox-regulated cell signaling., [UniProtKB, PubMed, UniProtKB]; TXNRD2 (rs35934224) CT genotype and primary open-angle glaucoma: correspondenceReply to ''TXNRD2 (rs35934224) CT genotype and primary open-angle glaucoma: correspondence''Primary open-angle glaucomaGenome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucomaGenome-wide association study of primary open-angle glaucoma in continental and admixed African popula... Publication Status: Online-Only, [RefSeq, PubMed]; The function of TR3 is not limited to its role in Trx2 reduction, [RefSeq, PubMed]; The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes a mitochondrial form important for scavenging reactive oxygen species in mitochondria. It functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants encoding different isoforms, including a few localized in the cytosol and some lacking the C-terminal Sec residue, 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O95840;Q96IJ2;Q9H2Z5;Q9NZV3;Q9NZV4;Q9P2Y0;Q9P2Y1;Q9UQU8", "ec_number_list": "1.8.1.9;1.11.1.2", "go_molecular_function": "GO:0004791 thioredoxin-disulfide reductase (NADPH) activity;GO:0042803 protein homodimerization activity;GO:0050660 flavin adenine dinucleotide binding;GO:0044877 protein-containing complex binding;GO:0016668 oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0030424 axon", "go_biological_process": "GO:0010269 response to selenium ion;GO:0045454 cell redox homeostasis;GO:0055093 response to hyperoxia;GO:0000305 response to oxygen radical;GO:0006979 response to oxidative stress", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q9NNW7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5THJ4-1", "uniprot_id": "VP13D_HUMAN", "mass": 491916.0, "length": 4388, "protein_name": "Intermembrane lipid transfer protein VPS13D", "gene_name": "VPS13D", "organism": "Human", "refseq_name": "intermembrane lipid transfer protein VPS13D isoform 1", "refseq_ac": "NP_056193", "gene_names_uniprotkb": "VPS13D; KIAA0453", "gene_names_refseq": "BLTP5D; SCA24; SCAR4; SCASI; VPS13D", "protein_names_uniprotkb": "Intermembrane lipid transfer protein VPS13D; Vacuolar protein sorting-associated protein 13D", "protein_names_refseq": "bridge-like lipid transfer protein family member 5D; intermembrane lipid transfer protein VPS13D isoform 1; intermembrane lipid transfer protein VPS13D; spinocerebellar ataxia 24 (with saccadic intrusions); spinocerebellar ataxia with saccadic intrusions; vacuolar protein sorting 13D; vacuolar protein sorting-associated protein 13D", "tax_id": 9606, "disease": "autosomal recessive spinocerebellar ataxia 4 (Disease Ontology:DOID:0111611)", "pathway": " (hsa:55187)", "pathway_count": 1, "publication_count": 90, "publication_id_list": "11237011;15498460;17081983;18452278;18491316;18669648;19413330;19608861;19651622;19690332;20068231;21406692;23186163;23481700;24275569;24714562;25576301;25645385;25880248;25892735;26154972;26375851;26992070;27600516;27846572;27862975;28228285;28657654;28832583;28834231;28904123;29242379;29307555;29393594;29493099;29518281;29557506;29604224;29632711;29786170;29789417;30315122;30429286;30524438;30833945;31154438;31217245;31222486;31492838;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35289036;35318648;35494241;35580925;36010968;36284347;36581221;36768210;37938771;38160741;38569247;39058251", "class_list": "", "function": "Autosomal recessive spinocerebellar ataxia type 4 due to a novel homozygous mutation in the VPS13D gene in a Saudi family., [RefSeq, PubMed]; Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders., [RefSeq, PubMed]; Clinical, genetic, and neuroimaging profiles of autosomal recessive spinocerebellar ataxia type 4 caused by novel VPS13D variants in Chinese., [RefSeq, PubMed]; Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Functions in promoting mitochondrial clearance by mitochondrial autophagy (mitophagy), also possibly by positively regulating mitochondrial fission (PubMed:29307555, PubMed:29604224). Mitophagy plays an important role in regulating cell health and mitochondrial size and homeostasis., [UniProtKB, PubMed, UniProtKB, PubMed]; Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. 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 distinct isoforms. [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": 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": 33, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 91, "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": "J3KP14;Q58F10;Q6MZK9;Q6ZV12;Q709C4;Q709C5;Q86UB4;Q9NSJ3;Q9UIM0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0070062 extracellular exosome;GO:0005811 lipid droplet", "go_biological_process": "GO:0045053 protein retention in Golgi apparatus;GO:1901526 positive regulation of mitophagy;GO:0006869 lipid transport;GO:0007005 mitochondrion organization;GO:0006623 protein targeting to vacuole", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q5THJ4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N5D0-1", "uniprot_id": "WDTC1_HUMAN", "mass": 75920.0, "length": 677, "protein_name": "WD and tetratricopeptide repeats protein 1", "gene_name": "WDTC1", "organism": "Human", "refseq_name": "WD and tetratricopeptide repeats protein 1 isoform a", "refseq_ac": "NP_001263181", "gene_names_uniprotkb": "WDTC1; KIAA1037", "gene_names_refseq": "ADP; DCAF9; WDTC1", "protein_names_uniprotkb": "WD and tetratricopeptide repeats protein 1", "protein_names_refseq": "DDB1 and CUL4 associated factor 9; WD and tetratricopeptide repeats protein 1 isoform a; WD and tetratricopeptide repeats protein 1; adipose homolog", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:23038); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 169, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16647857;16707496;16790436;16943200;16964240;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18775313;18776931;18805092;18826954;18851830;18926707;19238144;19250909;19321346;19617556;19690332;19748355;20068231;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22959436;23186163;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24714562;24715725;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25576301;25645385;25880248;26344709;26460955;26632597;26728094;26906416;26992070;27030794;27222660;27565346;27600516;27846572;28115426;28218747;28228285;28514659;28832583;28834231;28904123;29153394;29242379;29393594;29437277;29493099;29557506;29632711;29786170;30315122;30410026;30429286;30610225;30833945;31092671;31154438;31222486;31530632;31844290;31848261;32005965;32157095;32161166;32284348;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33392160;33444648;33592498;33691108;33717175;33912179;33968037;35051231;35238908;35251023;35580925;36010968;36284347;36581221;9790970;9887101;9891082", "class_list": "", "function": "May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex., [UniProtKB, PubMed]; The putative oncogenic role of WDTC1 in colorectal cancer., [RefSeq, PubMed]; WDTC1 variation may be an important risk factor contributing to obesity in both Puerto Rican and white populations. GeneRIF: Observational study of gene-disease association and gene-environment interaction. (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": 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": "D3DPL5;Q5SSC5;Q9NV87;Q9UPW4", "ec_number_list": "", "go_molecular_function": "GO:0004857 enzyme inhibitor activity;GO:0042826 histone deacetylase binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0080008 Cul4-RING E3 ubiquitin ligase complex", "go_biological_process": "GO:0045717 negative regulation of fatty acid biosynthetic process;GO:0016567 protein ubiquitination;GO:1904178 negative regulation of adipose tissue development", "synthesized_glycan_count": 0, "hit_score": 17.0, "record_id": "Q8N5D0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5GFL6-1", "uniprot_id": "VWA2_HUMAN", "mass": 82012.0, "length": 755, "protein_name": "von Willebrand factor A domain-containing protein 2", "gene_name": "VWA2", "organism": "Human", "refseq_name": "von Willebrand factor A domain-containing protein 2 precursor", "refseq_ac": "NP_001258975", "gene_names_uniprotkb": "VWA2; AMACO", "gene_names_refseq": "AMACO; CCSP-2; CCSP2; NET42; VWA2", "protein_names_uniprotkb": "von Willebrand factor A domain-containing protein 2; A domain-containing protein similar to matrilin and collagen; AMACO; CCSP-2; Colon cancer secreted protein 2", "protein_names_refseq": "a domain-containing protein similar to matrilin and collagen; colon cancer diagnostic marker; colon cancer secreted protein 2; von Willebrand factor A domain-containing protein 2 precursor; von Willebrand factor A domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:340706)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "14506275;15580307;15699509;16385451;16959974;18434322;25418920;30038405;33023779;35051231;37074911", "class_list": "", "function": "AMACO is a new member of the von Willebrand factor A-like domain protein superfamily with a regulated expression in the kidney, [RefSeq, PubMed]; CCSP-2 is a novel candidate for development as a diagnostic serum marker of early stage colon cancer, [RefSeq, PubMed]; Contribution of homozygous and compound heterozygous missense mutations in VWA2 to Alzheimer's disease., [RefSeq, PubMed]; O-glucosylation and O-fucosylation occur together in close proximity on the first epidermal growth factor repeat of AMACO, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Single nucleotide polymorphisms in the AMACO gene are associated with dominant protection against Type 1A diabetes in an Arab family., [RefSeq, PubMed]; This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]., [RefSeq]; VWA2 might be a constituent of a larger oncogenic transcriptional program regulated by c-Myc. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 18, "reported_interactions": 0, "missing_score": 9474, "biomarker_type": "", "glycan_count": 9, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A1A5D4;B5MDJ8;Q6ZS39;Q6ZWJ7;Q708C5;Q70UZ8", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0005604 basement membrane", "go_biological_process": "GO:0007161 calcium-independent cell-matrix adhesion;GO:0046626 regulation of insulin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q5GFL6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HCJ6-1", "uniprot_id": "VAT1L_HUMAN", "mass": 45899.0, "length": 419, "protein_name": "Putative NADPH-dependent quinone oxidoreductase VAT1L", "gene_name": "VAT1L", "organism": "Human", "refseq_name": "putative NADPH-dependent quinone oxidoreductase VAT1L", "refseq_ac": "NP_065978", "gene_names_uniprotkb": "VAT1L; KIAA1576", "gene_names_refseq": "VAT1L", "protein_names_uniprotkb": "Putative NADPH-dependent quinone oxidoreductase VAT1L; 1.6.5.5; Synaptic vesicle membrane protein VAT-1 homolog-like; Vesicle amine transport 1 like", "protein_names_refseq": "putative NADPH-dependent quinone oxidoreductase VAT1L; synaptic vesicle membrane protein VAT-1 homolog-like; vesicle amine transport protein 1 homolog (T. californica)-like; vesicle amine transport protein 1 homolog-like (T. californica)", "tax_id": 9606, "disease": "", "pathway": " (hsa:57687)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "19844255;26992070;29557506;30429286;31848261;32387766;32502341;32938616;35051231", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Putative NADPH-dependent quinone oxidoreductase., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q8IYW8", "ec_number_list": "1.6.5.5", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003960 quinone reductase (NADPH) activity;GO:0008753 NADPH dehydrogenase (quinone) activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9HCJ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5R3I4-1", "uniprot_id": "TTC38_HUMAN", "mass": 52787.0, "length": 469, "protein_name": "Tetratricopeptide repeat protein 38", "gene_name": "TTC38", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 38", "refseq_ac": "NP_060401", "gene_names_uniprotkb": "TTC38", "gene_names_refseq": "LL22NC03-5H6.5; TTC38", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 38; TPR repeat protein 38", "protein_names_refseq": "TPR repeat protein 38; tetratricopeptide repeat protein 38", "tax_id": 9606, "disease": "", "pathway": " (hsa:55020)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;18477386;20068231;20934997;23481700;26375851;26992070;27600516;28371410;28510447;28514659;28832583;29242379;29493099;29557506;29632046;29786170;30429286;31217245;31844290;32157095;32350084;32387766;32938616;32983136;33298915;33968037;34171305;34185709;34509645;34932366;35051231;35154160;35494241;35580925;36284347;38665916", "class_list": "", "function": "We proposed that four newly identified peripheral blood mononuclear cells-derived genes( DHRS3, TTC38, SAP30BP and LPIN2 )could be integrated with previously reported rheumatoid arthritis (RA)-associated genes to monitor and/or diagnose RA., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q8WV27;Q9NWP8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q5R3I4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00762-1", "uniprot_id": "UBE2C_HUMAN", "mass": 19652.0, "length": 179, "protein_name": "Ubiquitin-conjugating enzyme E2 C", "gene_name": "UBE2C", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 C isoform 6", "refseq_ac": "NP_001268670", "gene_names_uniprotkb": "UBE2C; UBCH10", "gene_names_refseq": "UBCH10; UBE2C; dJ447F3.2", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 C; (E3-independent) E2 ubiquitin-conjugating enzyme C; 2.3.2.23; 2.3.2.24; E2 ubiquitin-conjugating enzyme C; UbcH10; Ubiquitin carrier protein C; Ubiquitin-protein ligase C", "protein_names_refseq": "(E3-independent) E2 ubiquitin-conjugating enzyme C; E2 ubiquitin-conjugating enzyme C; cyclin-selective ubiquitin carrier protein; mitotic-specific ubiquitin-conjugating enzyme; ubiquitin conjugating enzyme E2C; ubiquitin-conjugating enzyme E2 C isoform 6; ubiquitin-protein ligase C", "tax_id": 9606, "disease": "", "pathway": " (hsa:11065); (R-HSA-141430); (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-2467813); (R-HSA-2559582); (R-HSA-68867); (R-HSA-69017); (R-HSA-8853884); (R-HSA-8866652); (R-HSA-9687136); (R-HSA-983168)", "pathway_count": 20, "publication_count": 203, "publication_id_list": "10201372;10318916;10339564;10411507;10432220;10548110;10679238;10733526;10793135;10884341;10995389;11046155;11062501;11081627;11114305;11125146;11237011;11248027;11285280;11340163;11350924;11371342;11509732;11535616;11562349;11598127;11742988;11859075;11927573;11988738;12006501;12070128;12194817;12446569;12646216;12832467;14657031;14672932;14679213;14734113;14743218;15014503;15029244;15224091;15224092;15469821;15558010;15571818;15678131;15737063;15774718;16142244;16413484;16595681;16626623;16648845;16824194;16849449;16954532;17187060;17234884;17485488;17580310;17588522;17597759;17697703;18267069;18353650;18411265;18485873;18555777;18555778;18662542;19028597;19352404;19452197;19489725;19805069;19820702;19822757;19851334;19874575;19896182;19940261;20028861;20061386;20068231;20351173;20452968;21325273;21406692;21670496;2183031;21979375;22084091;22178396;22322005;2261476;22634325;22885700;23186163;23481700;23603117;23846687;23851460;2405250;24397554;24706756;24714562;24715725;25231993;25418920;25576301;25645385;25802875;25880248;25892735;26154972;26222030;26235645;26375851;26758079;26811146;26992070;27249176;27259151;27600516;27846572;27910872;27920218;28218747;28228285;28446606;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29769354;29789417;30315122;30779550;31092671;31222486;31530632;31844290;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34509645;34932366;35051231;35318648;35580925;36010968;36241641;36284347;36581221;37938771;38009019;38102624;38637730;38949026;39032892;39894887;6277905;6305978;7851534;8010951;8234276;8384717;8413215;8413306;8617720;8688489;8884985;8939459;9122200;9380723;9521656;9635433;9668046;9892021", "class_list": "", "function": "Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitination. Acts as an essential factor of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated ubiquitin ligase that controls progression through mitosis. Acts by initiating 'Lys-11'-linked polyubiquitin chains on APC/C substrates, leading to the degradation of APC/C substrates by the proteasome and promoting mitotic exit., [UniProtKB, 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, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is required for the destruction of mitotic cyclins and for cell cycle progression, and may be involved in cancer progression. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been defined on chromosomes 4, 14, 15, 18, and 19. [provided by RefSeq, Aug 2013]., [RefSeq]; UBE2C promotes malignancy of cutaneous squamous cell carcinoma., [RefSeq, PubMed]; UBE2C promotes the proliferation of acute myeloid leukemia cells through PI3K/AKT activation. Publication Status: Online-Only, [RefSeq, PubMed]; UBE2C regulates the KEAP1/NRF2 signaling pathway to promote the growth of gastric cancer by inhibiting autophagy., [RefSeq, PubMed]; UBE2C-induced crosstalk between mono- and polyubiquitination of SNAT2 promotes lymphatic metastasis in bladder cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitin-conjugating enzyme E2C (UBE2C) is a prognostic indicator for cholangiocarcinoma. 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": 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": "A6NP33;E1P5N7;G3XAB7", "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;2.3.2.-;2.7.11.22;2.7.11.23;3.4.25.1;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;2.3.2.36", "go_molecular_function": "GO:0005524 ATP binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity;GO:0044389 ubiquitin-like protein ligase binding;GO:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005680 anaphase-promoting complex", "go_biological_process": "GO:0051301 cell division;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0010458 exit from mitosis;GO:0031145 anaphase-promoting complex-dependent catabolic process", "synthesized_glycan_count": 0, "hit_score": 20.6, "record_id": "O00762-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95258-1", "uniprot_id": "UCP5_HUMAN", "mass": 36202.0, "length": 325, "protein_name": "Brain mitochondrial carrier protein 1", "gene_name": "SLC25A14", "organism": "Human", "refseq_name": "brain mitochondrial carrier protein 1 isoform 1 precursor", "refseq_ac": "NP_001269124", "gene_names_uniprotkb": "SLC25A14; BMCP1; PRO1682; UCP5", "gene_names_refseq": "BMCP1; SLC25A14; UCP5", "protein_names_uniprotkb": "Brain mitochondrial carrier protein 1; BMCP-1; Mitochondrial uncoupling protein 5; Solute carrier family 25 member 14; UCP 5", "protein_names_refseq": "brain mitochondrial carrier protein 1 isoform 1 precursor; brain mitochondrial carrier protein 1; mitochondrial uncoupling protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:9016); (R-HSA-167826)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "10928996;11237011;11709078;12975309;20600837;22524567;23266187;23266757;25576301;28218747;28904123;29437277;30315122;31356773;31844290;32350084;8576230;8626410;9852133", "class_list": "", "function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Increased expression of cerebral UCP5 and UCP4 is observed in a model of high altitude hypoxia and mitochondrial oxidative phosphorylation deficiency., [RefSeq, PubMed]; Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). Uncoupling proteins separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. Uncoupling proteins facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. This gene is widely expressed in many tissues with the greatest abundance in brain and testis. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 4. [provided by RefSeq, Aug 2013]., [RefSeq]; Transports inorganic anions (sulfate, sulfite, thiosulfate and phosphate) and, to a lesser extent, a variety of dicarboxylates (e.g. malonate, malate and citramalate) and, even more so, aspartate and glutamate and tricarboxylates (PubMed:31356773). May catalyze the export of sulfite and thiosulfate (the hydrogen sulfide degradation products) from the mitochondria, thereby modulating the level of the hydrogen sulfide (Probable). Also can mediate a very low unidirectional transport of anions including sulfate, phosphate, (S)-malate, citrate, L-aspartate and L-glutamate (PubMed:31356773). Maintains oxidative balance (through uncoupling activities) and ATP production (by modifying mitochondrial membrane potential) (PubMed:20600837). Is able to transport protons across lipid membranes (PubMed:22524567, PubMed:26182433). Also exhibits transmembrane chloride transport activity to a lesser extent (PubMed:22524567, PubMed:26182433). May modify mitochondrial respiratory efficiency and mitochondrial oxidant production (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DTG2;Q0VDH7;Q9HC60;Q9HC61", "ec_number_list": "1.8.-.-;1.8.5.1;1.11.1.-;5.6.1.6", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0015078 proton transmembrane transporter activity;GO:0005452 solute:inorganic anion antiporter activity;GO:0015108 chloride transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:1900407 regulation of cellular response to oxidative stress;GO:0015698 inorganic anion transport;GO:0009060 aerobic respiration", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "O95258-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HC21-1", "uniprot_id": "TPC_HUMAN", "mass": 35511.0, "length": 320, "protein_name": "Mitochondrial thiamine pyrophosphate carrier", "gene_name": "SLC25A19", "organism": "Human", "refseq_name": "mitochondrial thiamine pyrophosphate carrier", "refseq_ac": "NP_001119593", "gene_names_uniprotkb": "SLC25A19; DNC; MUP1", "gene_names_refseq": "DNC; MCPHA; MTPPT; MUP1; SLC25A19; THMD3; THMD4; TPC", "protein_names_uniprotkb": "Mitochondrial thiamine pyrophosphate carrier; MTPPT; Mitochondrial thiamine pyrophosphate transporter; Mitochondrial uncoupling protein 1; Solute carrier family 25 member 19", "protein_names_refseq": "Deoxynucleotide carrier; mitochondrial thiamine pyrophosphate carrier; mitochondrial thiamine pyrophosphate transporter; mitochondrial uncoupling protein 1; solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19; solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19", "tax_id": 9606, "disease": "microcephaly (Disease Ontology:DOID:10907); inherited metabolic disorder (Disease Ontology:DOID:655); Amish lethal microcephaly (MONDO:MONDO:0011790); progressive demyelinating neuropathy with bilateral striatal necrosis (MONDO:MONDO:0013382)", "pathway": " (hsa:60386); (R-HSA-196819)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10.1101/2023.09.13.557529;10391221;10391222;10391223;11226231;11237011;11342111;11342117;11827967;12185364;14615284;15539640;16371350;16705148;16790503;17035501;18280798;19798730;20583149;23186163;26992070;27188525;28514659;28904123;29393594;29632046;30379171;30410026;31217245;31506564;31844290;32502341;33633747;33912179;34587972;35051231;35102031;35494241;37529835;37938771;38944213", "class_list": "", "function": "Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature. Review article, [RefSeq, PubMed]; MiR-122-5p is involved in posttranscriptional regulation of the mitochondrial thiamin pyrophosphate transporter (SLC25A19) in pancreatic acinar cells., [RefSeq, PubMed]; Mitochondrial transporter mediating uptake of thiamine diphosphate into mitochondria. It is not clear if the antiporter activity is affected by the membrane potential or by the proton electrochemical gradient., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Mutant protein lacks the normal transport activity, implying that failed deoxynucleotide transport across the inner mitochondrial membrane causes Amiah microcephaly (MCPHA), [RefSeq, PubMed]; SLC25A19 is required for NADH homeostasis and mitochondrial respiration., [RefSeq, PubMed]; This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, 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": 2, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 4, "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": "E9PF74;Q6V9R7", "ec_number_list": "", "go_molecular_function": "GO:0015297 antiporter activity;GO:0090422 thiamine pyrophosphate transmembrane transporter activity;GO:0015234 thiamine transmembrane transporter activity;GO:0030233 deoxynucleotide transmembrane transporter activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0009229 thiamine diphosphate biosynthetic process;GO:0030974 thiamine pyrophosphate transmembrane transport;GO:0042723 thiamine-containing compound metabolic process;GO:0030302 deoxynucleotide transport", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9HC21-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZMY6-1", "uniprot_id": "WDR88_HUMAN", "mass": 52621.0, "length": 472, "protein_name": "WD repeat-containing protein 88", "gene_name": "WDR88", "organism": "Human", "refseq_name": "WD repeat-containing protein 88", "refseq_ac": "NP_775750", "gene_names_uniprotkb": "WDR88; PQWD", "gene_names_refseq": "PQWD; WDR88", "protein_names_uniprotkb": "WD repeat-containing protein 88; PQQ repeat and WD repeat-containing protein", "protein_names_refseq": "PQQ repeat and WD repeat domain containing; PQQ repeat and WD repeat-containing protein; WD repeat-containing protein 88", "tax_id": 9606, "disease": "", "pathway": " (hsa:126248)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;16959974;18491316;26740555", "class_list": "", "function": "Genome-wide significant support for contributing to schizophrenia has been found for the WDR88 (WD repeat-containing protein 88), a gene of unknown 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": 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": "Q8NEF8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6ZMY6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TD23-1", "uniprot_id": "ZN675_HUMAN", "mass": 66299.0, "length": 568, "protein_name": "Zinc finger protein 675", "gene_name": "ZNF675", "organism": "Human", "refseq_name": "zinc finger protein 675", "refseq_ac": "NP_612203", "gene_names_uniprotkb": "ZNF675; TIZ", "gene_names_refseq": "TBZF; TIZ; ZNF675", "protein_names_uniprotkb": "Zinc finger protein 675; TRAF6-binding zinc finger protein; TRAF6-inhibitory zinc finger protein", "protein_names_refseq": "TRAF6 inhibitory zinc finger; TRAF6-binding zinc finger protein; TRAF6-inhibitory zinc finger protein; zinc finger protein 675", "tax_id": 9606, "disease": "", "pathway": " (hsa:171392); (R-HSA-212436)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10235266;10330177;11237011;11395415;11751921;14519192;15175151;15896744;16606702;16719718;2163759;25576301;25645385;26992070;28832583;28834231;29242379;29493099;30315122;30429286;31154438;31844290;32157095;32357974;33592498;33912179;34185709;35051231;35580925;38958676;8183939;8769649;9637681;9653119", "class_list": "", "function": "Emergence of the ZNF675 Gene During Primate Evolution-Influenced Human Neurodevelopment Through Changing HES1 Autoregulation., [RefSeq, PubMed]; May be involved in transcriptional regulation. May play a role during osteoclast differentiation by modulating TRAF6 signaling activity., [UniProtKB]; The novel zinc finger protein TIZ may play a role during osteoclast differentiation by modulating TRAF6 signaling 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": 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": "Q8N211", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0031625 ubiquitin protein ligase 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:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0001960 negative regulation of cytokine-mediated signaling pathway;GO:2000660 negative regulation of interleukin-1-mediated signaling pathway;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q8TD23-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q629K1-1", "uniprot_id": "TRIQK_HUMAN", "mass": 9683.0, "length": 86, "protein_name": "Triple QxxK/R motif-containing protein", "gene_name": "TRIQK", "organism": "Human", "refseq_name": "triple QxxK/R motif-containing protein", "refseq_ac": "NP_001165266", "gene_names_uniprotkb": "TRIQK; C8orf83", "gene_names_refseq": "C8orf83; PRO0845; TRIQK; UPF0599", "protein_names_uniprotkb": "Triple QxxK/R motif-containing protein; Triple repetitive-sequence of QXXK/R protein homolog", "protein_names_refseq": "protein TRIQK; triple QxxK/R motif-containing protein; triple repetitive-sequence of QXXK/R protein homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:286144)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;18828657;26992070;29393594;29557506;31217245;32157095;33592498;35051231", "class_list": "", "function": "May play a role in cell growth and maintenance of cell morphology., [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": 1.0, "record_id": "Q629K1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UX27-1", "uniprot_id": "VSTM1_HUMAN", "mass": 26109.0, "length": 236, "protein_name": "V-set and transmembrane domain-containing protein 1", "gene_name": "VSTM1", "organism": "Human", "refseq_name": "V-set and transmembrane domain-containing protein 1 isoform 2", "refseq_ac": "NP_001275720", "gene_names_uniprotkb": "VSTM1; PRO9835", "gene_names_refseq": "SIRL-1; SIRL1; UNQ3033; VSTM1", "protein_names_uniprotkb": "V-set and transmembrane domain-containing protein 1; SIRL-1; Signal inhibitory receptor on leukocytes-1", "protein_names_refseq": "LAIR homolog; OSCAR-like transcript-1; V-set and transmembrane domain-containing protein 1 isoform 2; V-set and transmembrane domain-containing protein 1; signal inhibitory receptor on leukocytes-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:284415)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;12975309;15340161;20375307;22960280;23436183;24205237;28832583;29557506;32942189;34145909;35580925;37053248;37737309;37935837", "class_list": "", "function": "Behaves as a cytokine, promoting IL17A secretion by CD4+ T-cells, and differentiation and activation of IL17 producing helper T-cells (TH17)., [UniProtKB]; Inhibitory immune receptor involved in the regulation of phagocytes., [UniProtKB]; New insights into the role of the immune inhibitory receptor VSTM1 in autoimmune disease., [RefSeq, PubMed]; Oxidized galectin-1 in SLE fails to bind the inhibitory receptor VSTM1 and increases reactive oxygen species levels in neutrophils., [RefSeq, PubMed]; Recognition of S100 proteins by Signal Inhibitory Receptor on Leukocytes-1 negatively regulates human neutrophils., [RefSeq, PubMed]; SIRL-1 negatively regulates the oxidative burst in human phagocytes., [RefSeq, PubMed]; Signal Inhibitory Receptor on Leukocytes-1 is highly expressed on lung monocytes, but absent on mononuclear phagocytes in skin and colon., [RefSeq, PubMed]; Signal inhibitory receptor on leukocytes-1 is a member of immunoglobulin superfamily ITIM; expressed by myeloid but not lymphoid cells; requires both of its ITIMs for full inhibition of Fc epsilon receptor type I-mediated mast cell degranulation., [RefSeq, PubMed]; Signaling via the inhibitory receptor SIRL-1 was induced by ligation with anti-SIRL-1 specific antibodies. Publication Status: Online-Only, [RefSeq, PubMed]; VSTM1-v2 does not drive human Th17 cell differentiation: A replication study. 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": 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": "B6A8C6;D2DJS3;D2DJS4;Q496B6;Q496B7", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0002376 immune system process;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q6UX27-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5TAA0-1", "uniprot_id": "TTC22_HUMAN", "mass": 63361.0, "length": 569, "protein_name": "Tetratricopeptide repeat protein 22", "gene_name": "TTC22", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 22 isoform 1", "refseq_ac": "NP_001107580", "gene_names_uniprotkb": "TTC22", "gene_names_refseq": "TTC22", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 22; TPR repeat protein 22", "protein_names_refseq": "TPR repeat protein 22; tetratricopeptide repeat protein 22 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55001)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;23481700;24714562;25892735;26154972;27397612;27846572;27862975;28832583;28904123;29493099;29557506;29632711;29769354;29786170;29789417;30664167;32157095;32488085;32502341;32983136;33717175;33912179;35051231;35580925;35793738;36241641;36284347;37217939", "class_list": "", "function": "Revealing PACMA 31 as a new chemical type TrxR inhibitor to promote cancer cell apoptosis., [RefSeq, PubMed]; Study results suggest that TTC22 variant 1 (TTC22V1) mRNA is a crucial miR663a target that directly promotes colon cancer cell migration/invasion. High TTC22V1 expression is a significant poor survival factor for patients with colon cancer., [RefSeq, PubMed]; This gene encodes a protein with seven tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q9NWT4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q5TAA0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NZI7-1", "uniprot_id": "UBIP1_HUMAN", "mass": 60491.0, "length": 540, "protein_name": "Upstream-binding protein 1", "gene_name": "UBP1", "organism": "Human", "refseq_name": "upstream-binding protein 1 isoform LBP-1a", "refseq_ac": "NP_001121632", "gene_names_uniprotkb": "UBP1; LBP1", "gene_names_refseq": "LBP-1B; LBP-1a; LBP1A; LBP1B; TFCP2L5; UBP1", "protein_names_uniprotkb": "Upstream-binding protein 1; Transcription factor LBP-1", "protein_names_refseq": "transcription factor CP2 like 5; transcription factor LBP-1; upstream-binding protein 1 isoform LBP-1a", "tax_id": 9606, "disease": "", "pathway": " (hsa:7342)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "10644752;11237011;15471945;2006421;20068231;20305658;22424782;23301498;23481700;24275569;24715725;25576301;26992070;27397612;27600516;27862975;28228285;28832583;28834231;28904123;29242379;29410248;29493099;29508533;29557506;29786170;30315122;30429286;30833945;31154438;31217245;31844290;31848261;32157095;32161166;32357974;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;34171305;34185709;34211107;34932366;35051231;35580925;36010968;36215666;36241641;37938771;8114710", "class_list": "", "function": "Functions as a transcriptional activator in a promoter context-dependent manner. Modulates the placental expression of CYP11A1. Involved in regulation of the alpha-globin gene in erythroid cells. Activation of the alpha-globin promoter in erythroid cells is via synergistic interaction with TFCP2 (By similarity). Involved in regulation of the alpha-globin gene in erythroid cells. Binds strongly to sequences around the HIV-1 initiation site and weakly over the TATA-box. Represses HIV-1 transcription by inhibiting the binding of TFIID to the TATA-box., [UniProtKB, PubMed, PubMed, PubMed]; LBP-1b is an important SF1-independent transcriptional activator stimulating P450scc expression in human placental JEG-3 cells, whereas LBP-9 modulates the action of LBP-1b, exerting both positive and negative effects, [RefSeq, PubMed]; Studies reveal that TFCP2, TFCP2L1, UBP1 belong to a transcription factors subfamily and involved in various aspects of cancer types and development as either proto-oncogenes or tumor suppressors. They can directly interact with each other; TFCP2, TFCP2L1 and UBP1 can form heteromeric DNA-binding complexes. In addition, TFCP2L1 can modulate the activity of TFCP2 and UBP1. [review], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q68CT0;Q86Y57;Q9H8V0;Q9UD76;Q9UD78", "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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0032897 negative regulation of viral transcription;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": 6.1, "record_id": "Q9NZI7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5MNZ6-1", "uniprot_id": "WIPI3_HUMAN", "mass": 38122.0, "length": 344, "protein_name": "WD repeat domain phosphoinositide-interacting protein 3", "gene_name": "WDR45B", "organism": "Human", "refseq_name": "WD repeat domain phosphoinositide-interacting protein 3 isoform 1", "refseq_ac": "NP_062559", "gene_names_uniprotkb": "WDR45B; WDR45L; WIPI3", "gene_names_refseq": "NEDSBAS; WDR45B; WDR45L; WIPI-3; WIPI3", "protein_names_uniprotkb": "WD repeat domain phosphoinositide-interacting protein 3; WD repeat-containing protein 45-like; WD repeat-containing protein 45B; WDR45-like protein; WIPI-3; WIPI49-like protein", "protein_names_refseq": "WD repeat domain phosphoinositide-interacting protein 3 isoform 1; WD repeat domain phosphoinositide-interacting protein 3; WD repeat protein 45-like; WD repeat-containing protein 45-like; WD repeat-containing protein 45B; WDR45-like protein; WIPI3 long; WIPI49-like protein", "tax_id": 9606, "disease": "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures (MONDO:MONDO:0060704)", "pathway": " (hsa:56270); (R-HSA-1632852)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "11096062;11237011;11825910;15187094;15602573;16963840;17618624;18321988;18439900;19211835;19322194;19590496;19855179;19898463;20059746;20713597;20921139;21177865;21205641;21258367;21383122;21460621;21819378;22170151;22682742;23202584;23685627;23727157;23884233;24747438;24954904;25484072;25568151;25576301;26154972;26375851;27600516;27846572;27862975;28228285;28503735;28561066;28649982;28832583;28904123;29242379;29493099;29557506;29632711;29786170;29789417;30315122;30429286;30797857;31154438;31217245;31530632;31844290;32157095;32483132;32897882;32938616;33592498;33717175;33912179;33936100;33968037;34171305;34357683;35051231;35580925;35962600;36010968;36215666;36284347;7628435", "class_list": "", "function": "A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review. Review article, [RefSeq, PubMed]; Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:28561066). Binds phosphatidylinositol 3-phosphate (PtdIns3P), and other phosphoinositides including PtdIns(3,5)P2, forming on membranes of the endoplasmic reticulum upon activation of the upstream ULK1 and PI3 kinases and is recruited at phagophore assembly sites where it regulates the elongation of nascent phagophores downstream of WIPI2 (PubMed:28561066, PubMed:30797857). In the cellular response to starvation, may also function together with the TSC1-TSC2 complex and RB1CC1 in the inhibition of the mTORC1 signaling pathway (PubMed:28503735)., [UniProtKB, PubMed, PubMed, PubMed]; Multi-site-mediated entwining of the linear WIR-motif around WIPI beta-propellers for autophagy. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif for interaction with phospholipids. The human genome contains several pseudogenes of this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; WDR45B has been identified as a potential intellectual disability gene through genomic sequencing of 2 large cohorts of affected individuals. In this report we present 6 individuals from 3 unrelated families with homozygous pathogenic variants in WDR45B: c.799C>T (p.Q267*) in 1 family and c.673C>T (p.R225*) in 2 families, [RefSeq, PubMed]; WIPI3 and WIPI4 beta-propellers have roles as scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 16, "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": "A0A024R8U4;A0A218N098;O95328;Q2MCP6;Q6IBN2", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0080025 phosphatidylinositol-3,5-bisphosphate binding;GO:0032266 phosphatidylinositol-3-phosphate binding;GO:0062078 TSC1-TSC2 complex binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005764 lysosome;GO:0034045 phagophore assembly site membrane;GO:0000407 phagophore assembly site", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0034497 protein localization to phagophore assembly site;GO:0009267 cellular response to starvation;GO:0000422 autophagy of mitochondrion;GO:0044804 nucleophagy", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q5MNZ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9ULT0-1", "uniprot_id": "TTC7A_HUMAN", "mass": 96185.0, "length": 858, "protein_name": "Tetratricopeptide repeat protein 7A", "gene_name": "TTC7A", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 7A isoform 1", "refseq_ac": "NP_001275880", "gene_names_uniprotkb": "TTC7A; KIAA1140; TTC7", "gene_names_refseq": "GIDID; MINAT; TTC7A; TTC7", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 7A; TPR repeat protein 7A", "protein_names_refseq": "TPR repeat protein 7A; tetratricopeptide repeat protein 7A isoform 1", "tax_id": 9606, "disease": "multiple intestinal atresia (Disease Ontology:DOID:14671); psoriasis (Disease Ontology:DOID:8893)", "pathway": " (hsa:57217)", "pathway_count": 1, "publication_count": 95, "publication_id_list": "11237011;17081983;17322306;18452278;18578522;18669648;18691976;18991276;19651622;19664995;19690332;20068231;23186163;23229899;23423984;23481700;23830146;24190977;24275569;24292712;24366607;24417819;24714562;24715725;24931897;25534311;25546680;25576301;25745186;25880248;25892735;26154972;26728094;26811146;26992070;27397612;27846572;27862975;27920218;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30429286;30524438;31217245;31814065;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33122718;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34405274;34415310;34509645;34561969;34932366;34975848;34985046;35051231;35251023;35561310;35580925;36241641;36284347;37390900", "class_list": "", "function": "A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency. Publication Status: Online-Only, [RefSeq, PubMed]; Actin dynamics regulation by TTC7A/PI4KIIIalpha limits DNA damage and cell death under confinement., [RefSeq, PubMed]; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:24417819). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, plays a central role in bridging PI4KA to EFR3B and HYCC1, via direct interactions (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB]; Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia., [RefSeq, PubMed]; Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy., [RefSeq, PubMed]; TTC7A Variants Previously Described to Cause Enteropathy Are Observed on a Single Haplotype and Appear Non-pathogenic in Pediatric Inflammatory Bowel Disease Patients., [RefSeq, PubMed]; TTC7A deficiency results in increased Rho kinase activity, which disrupts polarity, growth, and differentiation of intestinal epithelial cells in multiple intestinal atresia., [RefSeq, PubMed]; The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease. Publication Status: Online-Only, [RefSeq, PubMed]; These data strongly suggest that TTC7A gene defects cause combined immunodeficiency with multiple intestinal atresias., [RefSeq, PubMed]; This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "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": "Q2T9J9;Q6PIX4;Q8ND67;Q9BUS3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0046854 phosphatidylinositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q9ULT0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NFA0-1", "uniprot_id": "UBP32_HUMAN", "mass": 181656.0, "length": 1604, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 32", "gene_name": "USP32", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 32", "refseq_ac": "NP_115971", "gene_names_uniprotkb": "USP32; USP10", "gene_names_refseq": "NY-REN-60; USP10; USP32", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 32; 3.4.19.12; Deubiquitinating enzyme 32; Renal carcinoma antigen NY-REN-60; Ubiquitin thioesterase 32; Ubiquitin-specific-processing protease 32", "protein_names_refseq": "deubiquitinating enzyme 32; renal carcinoma antigen NY-REN-60; ubiquitin carboxyl-terminal hydrolase 32; ubiquitin specific protease 32; ubiquitin thioesterase 32; ubiquitin thiolesterase 32; ubiquitin-specific-processing protease 32", "tax_id": 9606, "disease": "", "pathway": " (hsa:84669)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "10508479;11237011;12604796;17081983;17411337;18669648;19651622;19664995;19690332;20549504;21406692;23186163;23481700;24275569;24715725;25418920;25505266;25576301;25645385;25880248;25892735;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29769354;30192525;30315122;30410026;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33392160;33592498;33633747;33912179;33968037;33981976;34087483;34171305;34185709;34357683;34932366;35051231;35318648;35494241;35580925;36010968;36241641;36476874;36725886;36951484;37938771;37957631;39031635", "class_list": "", "function": "Deubiquitinase that can remove conjugated ubiquitin from target proteins, such as RAB7A and LAMTOR1 (PubMed:36476874). Acts as a positive regulator of the mTORC1 signaling by mediating deubiquitination of LAMTOR1, thereby promoting the association between LAMTOR1 and the lysosomal V-ATPase complex and subsequent activation of the mTORC1 complex (PubMed:36476874)., [UniProtKB, PubMed]; Deubiquitinase that can remove conjugated ubiquitin from target proteins, such as RAB7A and LAMTOR1. Acts as a positive regulator of the mTORC1 signaling by mediating deubiquitination of LAMTOR1, thereby promoting the association between LAMTOR1 and the lysosomal V-ATPase complex and subsequent activation of the mTORC1 complex., [UniProtKB, UniProtKB]; Deubiquitylation of Rab35 by USP32 promotes the transmission of imatinib resistance by enhancing exosome secretion in gastrointestinal stromal tumours., [RefSeq, PubMed]; Furin Egress from the TGN is Regulated by Membrane-Associated RING-CH Finger (MARCHF) Proteins and Ubiquitin-Specific Protease 32 (USP32) via Nondegradable K33-Polyubiquitination., [RefSeq, PubMed]; High USP32 expression contributes to cancer progression and is correlated with immune infiltrates in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Roles of the hsa_circ_0013880/USP32/Rap1b axis in the proliferation and apoptosis of acute myeloid leukemia cells., [RefSeq, PubMed]; USP32 is overexpressed 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 35, "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": "Q7Z5T3;Q9BX85;Q9Y591", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0006508 proteolysis;GO:0016579 protein deubiquitination", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q8NFA0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H967-1", "uniprot_id": "WDR76_HUMAN", "mass": 69769.0, "length": 626, "protein_name": "WD repeat-containing protein 76", "gene_name": "WDR76", "organism": "Human", "refseq_name": "WD repeat-containing protein 76 isoform 2", "refseq_ac": "NP_001161413", "gene_names_uniprotkb": "WDR76", "gene_names_refseq": "CDW14; CMR1; WDR76", "protein_names_uniprotkb": "WD repeat-containing protein 76", "protein_names_refseq": "WD repeat-containing protein 76 isoform 2; WD repeat-containing protein 76", "tax_id": 9606, "disease": "", "pathway": " (hsa:79968)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "11237011;12860291;17041588;19913121;20628086;21872626;23481700;24715725;25418920;25469497;25505266;25576301;26154972;26375851;26811146;26929215;26992070;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28871256;28904123;29242379;29393594;29437277;29508533;29557506;29632046;30315122;30410026;30524438;30655611;30779550;31217245;31353912;31362761;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33714259;33912179;33936100;33968037;34087483;34171305;34211107;35051231;35154160;35381263;35494241;36010968;36241641;39894887", "class_list": "", "function": "Biochemical Reduction of the Topology of the Diverse WDR76 Protein Interactome., [RefSeq, PubMed]; Destabilization of RAS by WDR76 is a potential strategy for targeting malignant CRC involving CSC activation Publication Status: Online-Only, [RefSeq, PubMed]; Kurarinone induced p53-independent G0/G1 cell cycle arrest by degradation of K-RAS via WDR76 in human colorectal cancer cells., [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]; Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Study identifies WD40-repeat protein 76 (WDR76) as one of the HRAS binding proteins using proteomic analyses of hepatocellular carcinomas tissue form human patients and mouse diethylnitrosamine-induced liver carcinogenesis model and demonstrates that WDR76 functions as a tumor suppressor via RAS degradation. Publication Status: Online-Only, [RefSeq, PubMed]; The role of WDR76 protein in human diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; To examine the proposition that FLJ12973 is involved in colorectal cancer we analysed 31 tumours for sequence variation. No missense changes or pathogenic mutations--truncating or splice site--were detected in any of the tumours., [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": 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": "A0MNP5;Q05CI4", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000792 heterochromatin;GO:0090734 site of DNA damage", "go_biological_process": "GO:2000001 regulation of DNA damage checkpoint;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9H967-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2H5-1", "uniprot_id": "UBP35_HUMAN", "mass": 113405.0, "length": 1018, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 35", "gene_name": "USP35", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 35", "refseq_ac": "NP_065849", "gene_names_uniprotkb": "USP35; KIAA1372; USP34", "gene_names_refseq": "USP35", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 35; 3.4.19.12; Deubiquitinating enzyme 35; Ubiquitin thioesterase 35; Ubiquitin-specific-processing protease 35", "protein_names_refseq": "deubiquitinating enzyme 35; ubiquitin carboxyl-terminal hydrolase 35; ubiquitin specific protease 35; ubiquitin thioesterase 35; ubiquitin thiolesterase 35; ubiquitin-specific-processing protease 35", "tax_id": 9606, "disease": "", "pathway": " (hsa:57558)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;14715245;18669648;19913121;20237496;20628086;23186163;23481700;24715725;25645385;25915564;26348204;26992070;27846572;28218747;28228285;28832583;28834231;29242379;29449677;29557506;32157095;32357974;32938616;33298915;33633747;33912179;33968037;34131114;34171305;34438346;34561969;34618999;35051231;35494241;36010968;37004621;37173391;37594129;38250150;38253038", "class_list": "", "function": "Deubiquitinase that plays a role in different processes including cell cycle regulation, mitophagy or endoplasmic reticulum stress (PubMed:26348204, PubMed:29449677, PubMed:37004621). Inhibits TNFalpha-induced NF-kappa-B activation through stabilizing TNIP2 protein via deubiquitination (PubMed:26348204). Plays an essential role during mitosis by deubiquitinating and thereby regulating the levels of Aurora B/AURKB protein (PubMed:29449677). In addition, regulates the protein levels of other key component of the chromosomal passenger complex (CPC) such as survivin/BIRC5 or Borealin/CDCA8 by enhancing their stability (PubMed:34438346). Regulates the degradation of mitochondria through the process of autophagy termed mitophagy (PubMed:25915564)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes., [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]; Regulation of survivin protein stability by USP35 is evolutionarily conserved., [RefSeq, PubMed]; The deubiquitylating enzyme USP35 restricts regulated cell death to promote survival of renal clear cell carcinoma., [RefSeq, PubMed]; This gene encodes a member of the peptidase C19 family of ubiquitin-specific proteases. These deubiquitinating enzymes (DUBs) catalyze the removal of ubiquitin proteins from other proteins. The encoded protein associates with polarized mitochondria and has been shown to inhibit NF-kappa B activation and delay PARK2-mediated degradation of mitochondria. Expression of this gene is upregulated by the let-7a microRNA and reduced expression has been observed in human tumor tissues. [provided by RefSeq, Jul 2017]., [RefSeq]; USP35 mitigates endoplasmic reticulum stress-induced apoptosis by stabilizing RRBP1 in non-small cell lung cancer., [RefSeq, PubMed]; USP35 promotes hepatocellular carcinoma progression by protecting PKM2 from ubiquitination-mediated degradation., [RefSeq, PubMed]; Ubiquitin-specific Protease 35 Promotes Gastric Cancer Metastasis by Increasing the Stability of Snail1. 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": 2, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9P2H5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96Q11-1", "uniprot_id": "TRNT1_HUMAN", "mass": 50128.0, "length": 434, "protein_name": "CCA tRNA nucleotidyltransferase 1, mitochondrial", "gene_name": "TRNT1", "organism": "Human", "refseq_name": "CCA tRNA nucleotidyltransferase 1, mitochondrial isoform 2", "refseq_ac": "NP_001289875", "gene_names_uniprotkb": "TRNT1; CGI-47", "gene_names_refseq": "CCA1; CGI-47; MtCCA; RPEM; SIFD; TRNT1", "protein_names_uniprotkb": "CCA tRNA nucleotidyltransferase 1, mitochondrial; 2.7.7.72; Mitochondrial tRNA nucleotidyl transferase, CCA-adding; mt CCA-adding enzyme; mt tRNA CCA-diphosphorylase; mt tRNA CCA-pyrophosphorylase; mt tRNA adenylyltransferase", "protein_names_refseq": "ATP(CTP):tRNA nucleotidyltransferase; CCA tRNA nucleotidyltransferase 1, mitochondrial isoform 2; CCA tRNA nucleotidyltransferase 1, mitochondrial; mitochondrial CCA-adding tRNA-nucleotidyltransferase; mt CCA-adding enzyme; mt tRNA CCA-diphosphorylase; mt tRNA CCA-pyrophosphorylase; mt tRNA adenylyltransferase; tRNA CCA nucleotidyl transferase 1; tRNA nucleotidyl transferase, CCA-adding, 1; tRNA-nucleotidyltransferase 1, mitochondrial", "tax_id": 9606, "disease": "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (Disease Ontology:DOID:0080209); sideroblastic anemia (Disease Ontology:DOID:8955); retinitis pigmentosa and erythrocytic microcytosis (MONDO:MONDO:0014850)", "pathway": " (hsa:51095); (R-HSA-6784531); (R-HSA-6785470)", "pathway_count": 3, "publication_count": 85, "publication_id_list": "10444065;11237011;11256614;11455963;11504732;11727826;11871657;12138183;12526808;12621050;12711671;12729736;15109492;15317868;16361254;16710424;17204286;17224653;18226598;18669648;18809514;18984158;19608861;20068231;21311021;21450806;21559454;21593607;21857155;22076379;22336717;22944664;22991464;23042678;23849775;2470644;24870230;25193871;25640237;25652405;25849199;25925575;25928769;25953853;26016801;26494905;26811146;27317422;27370603;27531075;27846572;27920218;28510447;29055896;29170023;29351928;29358286;29393594;29454993;29557506;30315122;30959222;31011209;31844290;32181284;32265295;32502341;32938616;33298915;33592498;33717175;34023389;34310935;34357683;34510712;34864548;35051231;35254053;37239403;40596516;6930639;7759547;7828588;9512417;9660920", "class_list": "", "function": "A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. Review article, [RefSeq, PubMed]; Adds 2 C residues (CC-) to the 3' terminus of tRNA molecules instead of a complete CCA end as isoform 1 does (in vitro)., [UniProtKB, PubMed]; Genes for tRNA recycling are upregulated in response to infection with Theiler's mouse encephalitis virus., [RefSeq, PubMed]; Human gene transcript CGI-47 (#AF151805) was cloned and encodes a bona fide CCA-adding enzyme and not a poly(A) polymerase., [RefSeq, PubMed]; Nucleotidyltransferase that catalyzes the addition and repair of the essential 3'-terminal CCA sequence in tRNAs, which is necessary for the attachment of amino acids to the 3' terminus of tRNA molecules, using CTP and ATP as substrates (PubMed:11504732, PubMed:25193871, PubMed:25640237, PubMed:25652405, PubMed:29454993, PubMed:30959222, PubMed:31011209, PubMed:34023389). tRNA 3'-terminal CCA addition is required both for tRNA processing and repair (PubMed:22076379, PubMed:25640237). Promotes tRNA repair and recycling downstream of the ribosome-associated quality control (RQC) pathway by mediating addition of the tRNA 3'-terminal CCA following cleavage by ANKZF1 and repair by ELAC1 (PubMed:31011209). Also involved in tRNA surveillance by mediating tandem CCA addition to generate a CCACCA at the 3' terminus of unstable tRNAs and tRNA-like transcripts (PubMed:22076379, PubMed:25640237). While stable tRNAs receive only 3'-terminal CCA, unstable tRNAs beginning with GG are marked with CCACCA and rapidly degraded (PubMed:22076379, PubMed:25640237). The structural flexibility of RNA controls the choice between CCA versus CCACCA addition: following the first CCA addition cycle, nucleotide-binding to the active site triggers a clockwise screw motion, producing torque on the RNA (PubMed:25640237). This ejects stable RNAs, whereas unstable RNAs are refolded while bound to the enzyme and subjected to a second CCA catalytic cycle (PubMed:25640237)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TRNT-1 Deficiency Is Associated with Loss of tRNA Integrity and Imbalance of Distinct Proteins. Publication Status: Online-Only, [RefSeq, PubMed]; The crystal structure reveals a four domain architecture with a cluster of conserved residues forming a positively charged cleft between the first two domains., [RefSeq, PubMed]; The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 2, "reported_glycation": 0, "reported_snv": 12, "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": "A8K2Z6;B7WP13;C9JKA2;Q8ND57;Q9BS97;Q9Y362", "ec_number_list": "2.7.7.72", "go_molecular_function": "GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0000049 tRNA binding;GO:0034062 5'-3' RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0042780 tRNA 3'-end processing;GO:0001680 tRNA 3'-terminal CCA addition;GO:1990180 mitochondrial tRNA 3'-end processing;GO:0106354 tRNA surveillance", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q96Q11-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6FIF0-1", "uniprot_id": "ZFAN6_HUMAN", "mass": 22555.0, "length": 208, "protein_name": "AN1-type zinc finger protein 6", "gene_name": "ZFAND6", "organism": "Human", "refseq_name": "AN1-type zinc finger protein 6 isoform a", "refseq_ac": "NP_001229840", "gene_names_uniprotkb": "ZFAND6; AWP1; HT032; ZA20D3", "gene_names_refseq": "AWP1; ZA20D3; ZFAND5B; ZFAND6", "protein_names_uniprotkb": "AN1-type zinc finger protein 6; Associated with PRK1 protein; Zinc finger A20 domain-containing protein 3", "protein_names_refseq": "AN1-type zinc finger protein 6 isoform a; AN1-type zinc finger protein 6; protein associated with PRK1; zinc finger, A20 domain containing 3; zinc finger, AN1-type domain 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:54469); (R-HSA-9033241)", "pathway_count": 2, "publication_count": 115, "publication_id_list": "10022913;10562279;10673331;11054541;11101887;11230166;11237011;11546814;11781871;11931631;12456682;12559034;12578380;12717447;12885776;15545321;15858711;16854980;17007944;17726030;18359941;18669648;18712838;19197237;19208625;19285159;19584060;19632994;20178365;20889853;21554508;21810480;21976670;21980954;22002062;22057399;22371489;22747494;23481700;23963456;24235149;24275569;24714562;24715725;24865970;25016021;25418920;25538232;25576301;25854684;25880248;25892735;26086376;26138649;26154972;26220973;26344566;26728094;26992070;27597759;27600516;27846572;28514659;28521612;28611990;28765278;28787099;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29769354;30315122;30779550;31092671;31154438;31217245;31530632;31844290;31848261;31937595;32157095;32357974;32502341;32983136;33123756;33298915;33592498;33912179;33968037;33981976;34932366;35051231;35580925;36010968;36284347;36581221;36980809;37127184;37738238;7719337;7790377;8824437;8858165;8991089;9090381;9090382;9090383;9539740;9653144;9668159;9837948", "class_list": "", "function": "EIF4A3-induced circZFAND6 promotes breast cancer proliferation and metastasis through the miR-647/FASN axis., [RefSeq, PubMed]; Genetic Variants of HNF4A, WFS1, DUSP9, FTO, and ZFAND6 Genes Are Associated with Prediabetes Susceptibility and Inflammatory Markers in the Saudi Arabian Population. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic associations of TMEM154, PRC1 and ZFAND6 loci with type 2 diabetes in an endogamous business community of North India. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in regulation of TNF induced NF-kappa-B activation and apoptosis. Involved in modulation of 'Lys-48'-linked polyubiquitination status of TRAF2 and decreases association of TRAF2 with RIPK1. Required for PTS1 target sequence-dependent protein import into peroxisomes and PEX5 stability; may cooperate with PEX6. In vitro involved in PEX5 export from the cytosol to peroxisomes (By similarity)., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; The AN1 domain of AWP1 mediated the functional interaction with tumor necrosis factor receptor-associated factor 2, and the A20 domain was responsible for the negative regulation of nuclear factor kappaB activation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "D3DW92;D3DW94;O95792;Q9BQF7;Q9GZY3", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0031593 polyubiquitin modification-dependent protein binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0015031 protein transport;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0071356 cellular response to tumor necrosis factor;GO:0043122 regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q6FIF0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96J42-1", "uniprot_id": "TXD15_HUMAN", "mass": 39885.0, "length": 360, "protein_name": "Thioredoxin domain-containing protein 15", "gene_name": "TXNDC15", "organism": "Human", "refseq_name": "thioredoxin domain-containing protein 15 isoform 1 precursor", "refseq_ac": "NP_078991", "gene_names_uniprotkb": "TXNDC15; C5orf14; PRO534", "gene_names_refseq": "BUG; C5orf14; MKS14; TMX5; TXNDC15; UNQ335", "protein_names_uniprotkb": "Thioredoxin domain-containing protein 15", "protein_names_refseq": "2310047H23Rik; disulfide isomerase; thioredoxin domain-containing protein 15 isoform 1 precursor; thioredoxin domain-containing protein 15", "tax_id": 9606, "disease": "Meckel syndrome (Disease Ontology:DOID:0050778); Meckel syndrome 14 (Disease Ontology:DOID:0070703)", "pathway": " (hsa:79770)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;16959974;19159218;21642008;21872626;21993680;23090970;23481700;24190977;25418920;25505266;25576301;25645385;26154972;26992070;27600516;27846572;27862975;27894351;28228285;28832583;28834231;28871256;28904123;29242379;29331515;29391424;29493099;29508533;29557506;29632711;29741879;29786170;30410026;30429286;30484775;30833945;30851085;31154438;31217245;31411728;31611695;31844290;31848261;32157095;32161166;32350084;32387766;32488085;32502341;32938616;32983136;33298915;33592498;33691108;33912179;33968037;34087483;34171305;34357683;34561969;34932366;35051231;35251023;35289036;35580925;36010968;36241641;36284347;37074911;37938771;39894887", "class_list": "", "function": "Acts as a positive regulator of ciliary hedgehog signaling (By similarity). Involved in ciliogenesis (PubMed:27894351)., [UniProtKB, PubMed, UniProtKB]; Increased surface thiol isomerase activity on platelets, compared with cells of the vascular wall, may explain the platelet-selective actions of S-nitrosoglutathione and help define its antithrombotic potential, [RefSeq, PubMed]; TXNDC15 was identified as a novel causative gene of prenatally diagnosed Meckel-Gruber syndrome., [RefSeq, PubMed]; This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. [provided by RefSeq, Apr 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": 5, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 25, "disease_count": 2, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "D3DQA9;Q96MT2;Q9H639", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0060170 ciliary membrane", "go_biological_process": "GO:0045880 positive regulation of smoothened signaling pathway;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q96J42-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WVN8-1", "uniprot_id": "UB2Q2_HUMAN", "mass": 42818.0, "length": 375, "protein_name": "Ubiquitin-conjugating enzyme E2 Q2", "gene_name": "UBE2Q2", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 Q2 isoform 2", "refseq_ac": "NP_001138807", "gene_names_uniprotkb": "UBE2Q2", "gene_names_refseq": "UBE2Q2", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 Q2; 2.3.2.23; E2 ubiquitin-conjugating enzyme Q2; Ubiquitin carrier protein Q2; Ubiquitin-protein ligase Q2", "protein_names_refseq": "E2 ubiquitin-conjugating enzyme Q2; ubiquitin carrier protein Q2; ubiquitin conjugating enzyme E2Q family member 2; ubiquitin-conjugating enzyme E2 Q2 isoform 2; ubiquitin-protein ligase Q2", "tax_id": 9606, "disease": "", "pathway": " (hsa:92912); (R-HSA-8866652); (R-HSA-983168)", "pathway_count": 3, "publication_count": 61, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16142244;16300736;16595681;16849449;16954532;17471241;17580310;17597759;18353650;18662542;18669648;19028597;19352404;19452197;19489725;19723876;19851334;19874575;19940261;20061386;20193842;22496338;2261476;22642244;26235645;26745068;26811146;26992070;28218747;28228285;29242379;29393594;29557506;30315122;30429286;31844290;31848261;32157095;32387766;32938616;32983136;33912179;34509645;35051231;36284347;37938771;6277905;6305978;7851534;8010951;9380723;9521656;9668046", "class_list": "", "function": "Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'-linked polyubiquitination., [UniProtKB, PubMed]; Found high expression levels of UBE2Q2 in human head and neck carcinoma cell lines and cancer tissues; found the level of UBE2Q2 is decreased in cell lines and cancer tissues that have resistance to CDDP or docetaxel., [RefSeq, PubMed]; In the 21 breast cancer cases investigated, a high increase in UBE2Q2 expression was found in 8 breast cancers (38.1%), a moderately increased UBE2Q2 expression was observed in 7 cases (33.3%), and no sig. changes were detected in 6 cases (28.6%)., [RefSeq, PubMed]; Inhibition of the UBE2Q2 protein causes cells to undergo a prolonged prophase arrest suggesting that UBE2Q2 normally functions to antagonize an early mitotic checkpoint., [RefSeq, PubMed]; The newly characterized human gene, UBE2Q2, may have implications for the pathogenesis of acute lymphoblastic leukemia., [RefSeq, PubMed]; The novel LOC92912 gene is characterized. It is over-expressed in hypopharyngeal tumours. Its functions may be linked with the cytoskeleton; it may represent a new target for cancer therapeutics., [RefSeq, PubMed]; UBE2Q1 hypomethylation is associated with Colorectal 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": 1, "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": "B7Z3Q2;H3BRG2;Q8N4G6;Q96J08", "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:0005524 ATP binding;GO:0004842 ubiquitin-protein transferase activity;GO:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0070936 protein K48-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q8WVN8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96NM4-1", "uniprot_id": "TOX2_HUMAN", "mass": 51604.0, "length": 488, "protein_name": "TOX high mobility group box family member 2", "gene_name": "TOX2", "organism": "Human", "refseq_name": "TOX high mobility group box family member 2 isoform c", "refseq_ac": "NP_001092266", "gene_names_uniprotkb": "TOX2; C20orf100; GCX1", "gene_names_refseq": "C20orf100; GCX-1; GCX1; TOX2; dJ1108D11.2; dJ495O3.1", "protein_names_uniprotkb": "TOX high mobility group box family member 2; GCX-1; Granulosa cell HMG box protein 1", "protein_names_refseq": "TOX high mobility group box family member 2 isoform c; granulosa cell HMG box 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84969)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;14764631;19240061;22496870;25418920;26154972;26992070;27846572;27920218;28153336;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29485866;30315122;30429286;30779550;31154438;31844290;32157095;32357974;32387766;32488085;32502341;32938616;33298915;33592498;33912179;33968037;33981976;34509645;34932366;35051231;35111387;35580925;36241641;36284347;37467321;38665916;39080376", "class_list": "", "function": "A haplotype block across a 24-kb region within the TOX2 gene reached genome-wide significance in haplotype-block-based regional heritability mapping. Single-SNP- and haplotype-based association tests demonstrated that five of nine genotyped SNPs and two haplotypes within this block were significantly associated with major depressive disorder., [RefSeq, PubMed]; A novel aberrantly hypermethylated CpG island in cancer was discovered within the TOX2 promoter. TOX2 was unmethylated in normal cells. Expression of two novel TOX2 transcripts was significantly reduced in primary lung tumors., [RefSeq, PubMed]; CD4+ T cells in classical Hodgkin lymphoma express exhaustion associated transcription factors TOX and TOX2: Characterizing CD4+ T cells in Hodgkin lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; Identification and functional analysis of the rat Gcx1 ortholog., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Putative transcriptional activator involved in the hypothalamo-pituitary-gonadal system., [UniProtKB]; TOX2 coordinates with TET2 to positively regulate central memory differentiation in human CAR T cells., [RefSeq, PubMed]; TOX2 nuclear-cytosol translocation is linked to leukemogenesis of acute T-cell leukemia by repressing TIM3 transcription., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K1J1;E1P5X0;G3XAC7;Q5TE33;Q5TE34;Q5TE35;Q96IC9;Q9BQN5", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0031490 chromatin 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:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q96NM4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CW00-1", "uniprot_id": "TSPY8_HUMAN", "mass": 35147.0, "length": 308, "protein_name": "Testis-specific Y-encoded protein 8", "gene_name": "TSPY8", "organism": "Human", "refseq_name": "testis-specific Y-encoded protein 8", "refseq_ac": "NP_001230650", "gene_names_uniprotkb": "TSPY8", "gene_names_refseq": "TSPY8", "protein_names_uniprotkb": "Testis-specific Y-encoded protein 8", "protein_names_refseq": "testis-specific Y-encoded protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:728403)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "May be involved in sperm differentiation and proliferation., [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": "H7BXJ3", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0006334 nucleosome assembly;GO:0007506 gonadal mesoderm development", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0CW00-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P19224-1", "uniprot_id": "UD16_HUMAN", "mass": 60751.0, "length": 532, "protein_name": "UDP-glucuronosyltransferase 1A6", "gene_name": "UGT1A6", "organism": "Human", "refseq_name": "UDP-glucuronosyltransferase 1A6 isoform 1 precursor", "refseq_ac": "NP_001063", "gene_names_uniprotkb": "UGT1A6; GNT1; UGT1", "gene_names_refseq": "GNT1; HLUGP1; HLUGP; UDPGT 1-6; UGT-1F; UGT1-06; UGT1.6; UGT1A6S; UGT1A6; UGT1F", "protein_names_uniprotkb": "UDP-glucuronosyltransferase 1A6; 2.4.1.17; Phenol-metabolizing UDP-glucuronosyltransferase; UDP-glucuronosyltransferase 1-6; UDP-glucuronosyltransferase 1-F; UDPGT 1-6; UGT-1F; UGT1*6; UGT1-06; UGT1.6; UGT1A6; UGT1F", "protein_names_refseq": "UDP glucuronosyltransferase 1 family, polypeptide A6; UDP glycosyltransferase 1 family, polypeptide A6; UDP-glucuronosyltransferase 1 family polypeptide A6s; UDP-glucuronosyltransferase 1-6; UDP-glucuronosyltransferase 1-F; UDP-glucuronosyltransferase 1A6 isoform 1 precursor; UDP-glucuronosyltransferase 1A6; phenol-metabolizing UDP-glucuronosyltransferase", "tax_id": 9606, "disease": "hepatitis B (Disease Ontology:DOID:2043); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:54578); (R-HSA-156588); (R-HSA-9749641); (R-HSA-9753281)", "pathway_count": 4, "publication_count": 96, "publication_id_list": "10220572;10434065;10741631;11237011;11434514;11581266;11714888;12433823;12473676;12616642;1339448;13741103;14570768;14616765;15135306;15231852;15284531;16258079;1634050;1634606;16696573;16837570;16858120;1692835;16943252;17482904;17627974;1783992;17924658;18004212;18052085;18232020;18357469;19204906;19463;19545173;19836360;19842618;20190787;20610558;21422672;21666065;21712391;22294686;22349737;22406294;22674043;23682772;2573352;25840124;26049587;26067475;27556486;28677105;29557506;29741879;30779550;3082969;3141926;31844290;32472168;3342084;33537174;3395122;36284347;36718958;3705620;37820941;37828659;38480019;38908142;4639028;5013373;5773090;5862532;6654901;6777177;6796486;6838677;6950087;70646;7206363;7469630;7802672;7906695;8027054;8276413;8687483;8813074;9024171;9080;9144407;931988;9429234;9466822;975718", "class_list": "glycogene;glycosyltransferase", "function": "Association of UGT1A6 gene polymorphisms with sodium valproate-induced tremor in patients with epilepsy., [RefSeq, PubMed]; Distribution pattern of UGT1A6 and UGT2B7 gene polymorphism and its impact on the pharmacokinetics of valproic acid and carbamazepine: Prospective genetic association study conducted in Pakistani patients with epilepsy., [RefSeq, PubMed]; Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma concentration of valproic acid in Chinese epilepsy patients., [RefSeq, PubMed]; Isoform 3 lacks transferase activity but acts as a negative regulator of isoform 1., [UniProtKB, PubMed]; Molecular biology of glucose-6-phosphate dehydrogenase and UDP-glucuronosyltransferase 1A1 in the development of neonatal unconjugated hyperbilirubinemia. Review article, [RefSeq, PubMed]; The Role of RARG rs2229774, SLC28A3 rs7853758, and UGT1A6*4 rs17863783 Single-nucleotide Polymorphisms in the Doxorubicin-induced Cardiotoxicity in Solid Childhood Tumors., [RefSeq, PubMed]; This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene is active on phenolic and planar compounds. Alternative splicing in the unique 5' end of this gene results in two transcript variants. [provided by RefSeq, Jul 2008]., [RefSeq]; UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to facilitate their inactivation and excretion from the body (PubMed:15231852, PubMed:21422672). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:15231852, PubMed:21422672). Involved in the glucuronidation of arachidonic acid (AA) and AA-derived eicosanoids including 15-HETE and 20-HETE (PubMed:15231852). Conjugates small planar phenolic molecules such as 4-nitrophenol, 1-naphthol, and 4-methylumbelliferone. The bulky phenol 4-hydroxybiphenyl, androgens and estrogens are not substrates. 2-hydroxybiphenyl is an excellent substrate (By similarity). Involved in the glucuronidation of the phytochemical ferulic acid at the phenolic or the carboxylic acid group (PubMed:21422672)., [UniProtKB, PubMed, 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": 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": 655, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NKK6;B8K289;Q96TE7", "ec_number_list": "2.4.1.17;2.4.1.170;2.4.1.185", "go_molecular_function": "GO:0008194 UDP-glycosyltransferase activity;GO:0004857 enzyme inhibitor activity;GO:0019899 enzyme binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0008210 estrogen metabolic process;GO:0045922 negative regulation of fatty acid metabolic process;GO:0001889 liver development;GO:0006805 xenobiotic metabolic process;GO:0016125 sterol metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "P19224-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96N46-1", "uniprot_id": "TTC14_HUMAN", "mass": 88319.0, "length": 770, "protein_name": "Tetratricopeptide repeat protein 14", "gene_name": "TTC14", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 14 isoform b", "refseq_ac": "NP_001036066", "gene_names_uniprotkb": "TTC14; KIAA1980; PRO19630", "gene_names_refseq": "DRDL5813; PRO19630; TTC14", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 14; TPR repeat protein 14", "protein_names_refseq": "TPR repeat protein 14; tetratricopeptide repeat protein 14 isoform b; tetratricopeptide repeat protein 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:151613)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;17697703;18691976;20068231;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26811146;27862975;27920218;28063628;28218747;28228285;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29786170;30315122;30379171;30410026;30429286;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34171305;34405274;34509645;34561969;34932366;35051231;35251023;35318648;35580925;36010968;36215666;36241641;36284347;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": 3, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "G5E9X0;Q6UWJ7;Q8TF22", "ec_number_list": "", "go_molecular_function": "GO:0003676 nucleic acid binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q96N46-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z2T5-1", "uniprot_id": "TRM1L_HUMAN", "mass": 81747.0, "length": 733, "protein_name": "tRNA (guanine(27)-N(2))-dimethyltransferase", "gene_name": "TRMT1L", "organism": "Human", "refseq_name": "tRNA (guanine(27)-N(2))-dimethyltransferase isoform 2", "refseq_ac": "NP_001189352", "gene_names_uniprotkb": "TRMT1L; C1orf25; MSTP070; TRM1L", "gene_names_refseq": "C1orf25; MST070; MSTP070; TRM1L; TRMT1L; bG120K12.3", "protein_names_uniprotkb": "tRNA (guanine(27)-N(2))-dimethyltransferase; 2.1.1.-; TRMT1-like protein; tRNA methyltransferase 1-like protein", "protein_names_refseq": "TRM1 tRNA methyltransferase 1-like; TRM1-like protein; TRMT1-like protein; tRNA (guanine(27)-N(2))-dimethyltransferase isoform 2; tRNA (guanine(27)-N(2))-dimethyltransferase; tRNA methyltransferase 1 homolog-like; tRNA methyltransferase 1 like; tRNA methyltransferase 1-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:81627)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "11237011;11318611;17198746;18669648;19664995;23186163;24275569;24715725;25505266;25576301;25880248;25892735;26154972;26811146;26992070;27846572;27862975;28063628;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29557506;29605689;29632046;29632711;29769354;30315122;30429286;30524438;30779550;30833945;31154438;31844290;31848261;31998317;32157095;32161166;32488085;32502341;32897882;32938616;32983136;33298915;33499731;33592498;33717175;33912179;33968037;33981976;34087483;34932366;35051231;35132862;35561310;35580925;36284347;37938771;39786990;39786998;40307207", "class_list": "", "function": "Functional characterization of the mouse C1orf25 ortholog and comparison to the human protein., [RefSeq, PubMed]; Includes the identification of the C1orf25 gene., [RefSeq, PubMed]; Specifically dimethylates a single guanine residue at position 27 of tRNA(Tyr) using S-adenosyl-L-methionine as donor of the methyl groups (PubMed:39786990, PubMed:39786998). Dimethylation at position 27 of tRNA(Tyr) is required for efficient translation of tyrosine codons (PubMed:39786990, PubMed:39786998). Also required to maintain 3-(3-amino-3-carboxypropyl)uridine (acp3U) in the D-loop of several cytoplasmic tRNAs (PubMed:39786990, PubMed:39786998)., [UniProtKB, PubMed, PubMed]; This gene encodes a protein that has some similarity to N2,N2-dimethylguanosine tRNA methyltransferase from other organisms. Studies of the mouse ortholog have shown that this protein plays a role in motor coordination and exploratory behavior, and it may also be involved in modulating postnatal neuronal functions. Alternatively spliced transcripts have been identified for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q5TEN0;Q6ZMX0;Q8IWH5;Q8NC68;Q9BZQ1", "ec_number_list": "2.1.1.-", "go_molecular_function": "GO:0016423 tRNA (guanine) methyltransferase activity;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0000049 tRNA binding;GO:0160248 tRNA (guanine(27)-N2)-dimethyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus", "go_biological_process": "GO:0002940 tRNA N2-guanine methylation;GO:0008033 tRNA processing;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q7Z2T5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UKU6-1", "uniprot_id": "TRHDE_HUMAN", "mass": 122133.0, "length": 1069, "protein_name": "Thyrotropin-releasing hormone-degrading ectoenzyme", "gene_name": "TRHDE", "organism": "Human", "refseq_name": "thyrotropin-releasing hormone-degrading ectoenzyme", "refseq_ac": "NP_037513", "gene_names_uniprotkb": "TRHDE; PRO5995", "gene_names_refseq": "PAP-II; PGPEP2; TRH-DE; TRHDE", "protein_names_uniprotkb": "Thyrotropin-releasing hormone-degrading ectoenzyme; 3.4.19.6; PAP-II; Pyroglutamyl-peptidase II; TRH-DE; TRH-degrading ectoenzyme; TRH-specific aminopeptidase; Thyroliberinase", "protein_names_refseq": "TRH-degrading ectoenzyme; TRH-specific aminopeptidase; pyroglutamyl aminopeptidase II; pyroglutamyl-peptidase II; thyroliberinase; thyrotropin-releasing hormone-degrading ectoenzyme", "tax_id": 9606, "disease": "", "pathway": " (hsa:29953)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "10491199;11237011;12975309;19913121;20628086;29242379", "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]; Specific inactivation of TRH after its release., [UniProtKB]; This gene encodes a member of the peptidase M1 family. The encoded protein is an extracellular peptidase that specifically cleaves and inactivates the neuropeptide thyrotropin-releasing hormone.[provided by RefSeq, Dec 2008]., [RefSeq]", "predicted_glycosites": 13, "predicted_n_glycosites": 12, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "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": 13, "binding_glycan_count": 0, "secondary_ac_list": "A5PL19;H0YHU0;Q6UWJ4", "ec_number_list": "", "go_molecular_function": "GO:0016920 pyroglutamyl-peptidase activity;GO:0008270 zinc ion binding;GO:0004177 aminopeptidase activity;GO:0070006 metalloaminopeptidase activity;GO:0008237 metallopeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0043171 peptide catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9UKU6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z2W7-1", "uniprot_id": "TRPM8_HUMAN", "mass": 127685.0, "length": 1104, "protein_name": "Transient receptor potential cation channel subfamily M member 8", "gene_name": "TRPM8", "organism": "Human", "refseq_name": "transient receptor potential cation channel subfamily M member 8 isoform 1", "refseq_ac": "NP_076985", "gene_names_uniprotkb": "TRPM8; LTRPC6; TRPP8", "gene_names_refseq": "LTRPC6; LTrpC-6; TRPM8; TRPP8; trp-p8", "protein_names_uniprotkb": "Transient receptor potential cation channel subfamily M member 8; LTrpC-6; LTrpC6; Long transient receptor potential channel 6; Transient receptor potential p8; Trp-p8", "protein_names_refseq": "TRPM8 cationic channel; transient receptor potential cation channel subfamily M member 8 isoform 1; transient receptor potential p8; transient receptor potential subfamily M member 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:79054); (R-HSA-3295583)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "11050376;11226139;11237011;11243859;11301059;11325849;12015988;12858355;1422598;14634208;15306801;15852009;16174775;17065148;17217067;20025796;20716668;22128173;22544926;23185472;25389312;25559186;25576301;25765567;25855297;28411811;32387766;32610057;35494241;35580925;36215666;37857704;39385506;39417661", "class_list": "", "function": "Implications of TRPM3 and TRPM8 for sensory neuron sensitisation. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Negatively regulates menthol- and cold-induced channel activity by stabilizing the closed state of the channel., [UniProtKB, PubMed]; Non-selective ion channel permeable to monovalent and divalent cations, including Na(+), K(+), and Ca(2+), with higher permeability for Ca(2+). Activated by multiple factors, such as temperature, voltage, pressure, and changes in osmolality. Activated by cool temperatures (<23-28 degrees Celsius) and by chemical ligands evoking a sensation of coolness, such as menthol and icilin therefore plays a central role in the detection of environmental cold temperatures (PubMed:15306801, PubMed:15852009, PubMed:16174775, PubMed:25559186, PubMed:37857704). TRPM8 is a voltage-dependent channel; its activation by cold or chemical ligands shifts its voltage thresholds towards physiological membrane potentials, leading to the opening of the channel (PubMed:15306801). In addition to its critical role in temperature sensing, regulates basal tear secretion by sensing evaporation-induced cooling and changes in osmolality (By similarity). May play a role in prostate cancer cell migration (PubMed:16174775, PubMed:25559186)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; TRPM8 channels: A review of distribution and clinical role. Review article, [RefSeq, PubMed]; TRPM8 is now best known as a cold- and menthol-activated channel implicated in thermosensation--{REVIEW} Review article, [RefSeq, PubMed]; TRPM8 overexpression suppresses hepatocellular carcinoma progression and improves survival by modulating the RTP3/STAT3 pathway., [RefSeq, PubMed]; Temperature sensing is tightly linked to voltage-dependent gating in the cold-sensitive channel TRPM8 and the heat-sensitive channel TRPV1, [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": 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": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 33, "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": "A0AVG2;Q3YFM7;Q6QNH9;Q8TAC3;Q8TDX8;Q9BVK1", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0005262 calcium channel activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0099604 ligand-gated calcium channel activity;GO:0005216 monoatomic ion channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0044853 plasma membrane raft;GO:0005789 endoplasmic reticulum membrane;GO:0009897 external side of plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0009409 response to cold;GO:0070588 calcium ion transmembrane transport;GO:0120162 positive regulation of cold-induced thermogenesis;GO:0050955 thermoception", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q7Z2W7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NBI6-1", "uniprot_id": "XXLT1_HUMAN", "mass": 43807.0, "length": 393, "protein_name": "Xyloside xylosyltransferase 1", "gene_name": "XXYLT1", "organism": "Human", "refseq_name": "xyloside xylosyltransferase 1 isoform 1", "refseq_ac": "NP_689744", "gene_names_uniprotkb": "XXYLT1; C3orf21; PSEC0251", "gene_names_refseq": "C3orf21; XXYLT1", "protein_names_uniprotkb": "Xyloside xylosyltransferase 1; 2.4.2.62; UDP-xylose:alpha-xyloside alpha-1,3-xylosyltransferase", "protein_names_refseq": "UDP-xylose:alpha-xyloside alpha-1,3-xylosyltransferase; xyloside xylosyltransferase 1 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:152002)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "10.1038/emboj.2013.79;11237011;16303743;22117070;23481700;23584533;25576301;27114449;27600516;28228285;28422717;28832583;29242379;29393594;29632046;31492838;31611695;31844290;31998317;32157095;32350084;32357974;32387766;32488085;32897882;32938616;33141586;33298915;33429795;33537174;33592498;33968037;34087483;34171305;34509645;35051231;35132862;35251023;35580925;35705054;36010968;36240223;36241641;40307207;40596516;8982869", "class_list": "glycogene;glycosyltransferase", "function": "Alpha-1,3-xylosyltransferase, which elongates the O-linked xylose-glucose disaccharide attached to EGF-like repeats in the extracellular domain of target proteins by catalyzing the addition of the second xylose (PubMed:22117070, PubMed:8982869). Known targets include Notch proteins and coagulation factors, such as F9 (PubMed:22117070, PubMed:8982869)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Our study concluded that C30rf21 rs 2131877 T/C+C/C genotype patients may experience increased nicotine addiction and that C30rf21 can likely serve as a susceptibility marker for lung adenocarcinoma with a higher degree of malignancy., [RefSeq, PubMed]; XXYLT1 methylation contributes to the occurrence of lung adenocarcinoma: Methylation and lung adenocarcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 512, "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": "D3DNW5;Q8NAL3;Q8WV03;Q96ME0", "ec_number_list": "2.4.2.62", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0030145 manganese ion binding;GO:0035252 UDP-xylosyltransferase activity;GO:0140560 xylosyl alpha-1,3-xylosyltransferase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine;GO:0180059 protein O-linked glycosylation via glucose", "synthesized_glycan_count": 4, "hit_score": 5.4, "record_id": "Q8NBI6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86UV5-1", "uniprot_id": "UBP48_HUMAN", "mass": 119032.0, "length": 1035, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 48", "gene_name": "USP48", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 48 isoform b", "refseq_ac": "NP_001027902", "gene_names_uniprotkb": "USP48; USP31", "gene_names_refseq": "DFNA85; RAP1GA1; USP31; USP48", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 48; 3.4.19.12; Deubiquitinating enzyme 48; Ubiquitin thioesterase 48; Ubiquitin-specific peptidase 48; Ubiquitin-specific protease 48; Ubiquitin-specific-processing protease 48", "protein_names_refseq": "deubiquitinating enzyme 48; ubiquitin carboxyl-terminal hydrolase 48 isoform b; ubiquitin carboxyl-terminal hydrolase 48; ubiquitin specific protease 31; ubiquitin thioesterase 48; ubiquitin thiolesterase 48; ubiquitin-specific-processing protease 48", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 85 (Disease Ontology:DOID:0070605)", "pathway": " (hsa:84196); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 146, "publication_id_list": "10444327;10982817;11237011;11566882;11923872;12917689;12917691;14661020;14715245;15053880;15354349;15916963;16214042;16901786;16964248;17081983;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19413330;19424180;19608861;19651622;19838211;19874889;19910467;20068231;20096447;20228808;20368735;20501646;21239494;21362556;21406692;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23301498;23395819;23486064;23824326;23825189;24056413;24260525;24366607;24493797;24714562;24715725;24896179;25197364;25305019;25576301;25578727;25880248;26154972;26811146;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28446606;28514659;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30410026;30429286;30484775;30524438;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34059922;34087483;34171305;34185709;34211107;34405274;34445214;34509645;34664215;34932366;35051231;35413838;35580925;35913642;36010968;36215666;36241641;36284347;36293380;36607699;37553503;38427128;40914422;7578059", "class_list": "", "function": "CircUSP48 promotes malignant behavior by regulating CYR61 via miR-365 in osteosarcoma. Publication Status: Online-Only, [RefSeq, PubMed]; Deubiquitinase that recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of polyubiquitin precursors as well as that of ubiquitinated proteins (PubMed:16214042, PubMed:34059922). Plays a role in the regulation of NF-kappa-B activation by TNF receptor superfamily via its interactions with RELA and TRAF2. May also play a regulatory role at postsynaptic sites. Plays an important role in cell cycle progression by deubiquitinating Aurora B/AURKB and thereby extending its stability (PubMed:34445214). In the context of H.pylori infection, stabilizes nuclear RELA through deubiquitination, thereby promoting the transcriptional activity of RELA to prolong TNFAIP3 de novo synthesis. Consequently, TNFAIP3 suppresses caspase activity and apoptotic cell death (PubMed:35913642). Also functions in the modulation of the ciliary and synaptic transport as well as cytoskeleton organization, which are key for photoreceptor function and homeostasis. To achieve this, stabilizes the levels of the retinal degeneration-associated proteins ARL3 and UNC119 using distinct mechanisms (PubMed:36293380). Plays a positive role in pyroptosis by stabilizing gasdermin E/GSDME through removal of its 'Lys-48'-linked ubiquitination (PubMed:36607699)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; MiR-489-3p promotes malignant progression of non-small cell lung cancer through the inactivation of Wnt/beta-catenin signaling pathway via regulating USP48. Publication Status: Online-Only, [RefSeq, PubMed]; Northern blot analysis revealed a single USP31 transcript of approximately 4 kb, which was primarily expressed in the testis and lung., [RefSeq, PubMed]; The Overexpression of USP31 in HEK 293T cells inhibited TNFalpha, CD40, LMP1, TRAF2, TRAF6 and IKKbeta-mediated NF-kappaB activation, but did not inhibit Smad-mediated transcription activation., [RefSeq, PubMed]; This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; USP48 and A20 synergistically promote cell survival in Helicobacter pylori infection. Publication Status: Online-Only, [RefSeq, PubMed]; USP48 deubiquitination stabilizes SLC1A5 to inhibit retinal pigment epithelium cell inflammation, oxidative stress and ferroptosis in the progression of diabetic retinopathy., [RefSeq, PubMed]; USP8, USP48, and BRAF mutations differ in their genotype-phenotype correlation in Asian Indian patients with Cushing's 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "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": "B7ZKS7;Q2M3I4;Q5SZI4;Q5T3T5;Q6NX53;Q8N3F6;Q96F64;Q96IQ3;Q9H5N3;Q9H5T7;Q9NUJ6;Q9NXR0", "ec_number_list": "2.3.2.27;3.4.19.12", "go_molecular_function": "GO:0004197 cysteine-type endopeptidase activity;GO:0004843 cysteine-type deubiquitinase activity;GO:0101005 deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005929 cilium", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "Q86UV5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P56705-1", "uniprot_id": "WNT4_HUMAN", "mass": 39052.0, "length": 351, "protein_name": "Protein Wnt-4", "gene_name": "WNT4", "organism": "Human", "refseq_name": "protein Wnt-4 precursor", "refseq_ac": "NP_110388", "gene_names_uniprotkb": "WNT4; PRO864", "gene_names_refseq": "SERKAL; WNT-4; WNT4", "protein_names_uniprotkb": "Protein Wnt-4", "protein_names_refseq": "protein Wnt-4 precursor; protein Wnt-4; wingless-type MMTV integration site family, member 4", "tax_id": 9606, "disease": "Mullerian aplasia and hyperandrogenism (Disease Ontology:DOID:0111526); endometrial carcinoma (Disease Ontology:DOID:2871); acute kidney failure (Disease Ontology:DOID:3021); SERKAL syndrome (MONDO:MONDO:0012734)", "pathway": " (hsa:54361); (R-HSA-201681); (R-HSA-3238698); (R-HSA-373080); (R-HSA-3772470); (R-HSA-4086400); (R-HSA-9831926)", "pathway_count": 7, "publication_count": 189, "publication_id_list": "10097073;10198061;10201374;10347172;10694878;10698942;10862746;11029007;11031247;11101902;11137016;11231171;11237011;11283799;11297558;11357136;11358862;11433298;11433302;11448771;11493532;11742004;11751577;11779461;12015986;12050670;12098667;12134165;12167704;12205098;12223464;12527209;12533515;12559132;12717451;12775774;12839624;12897152;12975309;14636582;14981260;15084453;15143170;15169958;15208637;15256437;15317892;15454084;15459103;15498814;15501440;15608632;15778503;15908424;15936275;16116452;16172602;16280981;16364628;16427602;16495441;16554443;16602827;16645052;16678095;16678096;16723543;16959810;16971168;17021034;17108000;17117926;17130287;17141155;17143291;17234765;17373907;17397399;17433286;17462603;17627283;18077588;18160347;18160348;18162551;18179883;18182450;18193032;18193037;18215320;18256687;18322270;18423204;18430724;18502762;18606139;18719708;18798527;18801728;19000841;19174556;19208630;19307728;19365405;19442504;19523939;19530173;19566487;19589360;19619488;19755491;19837038;20004982;20006983;20053636;20093360;20477987;20533886;20803696;20826466;20940229;20966082;21316585;21383061;21554866;21725318;21725319;21743455;21768372;21875946;21886182;21944579;21984209;22000855;22000856;22014570;22027831;22041890;22046319;22094269;22094272;22108505;22411803;22653731;22773843;22784633;22888000;22951645;22952392;22983114;22986341;23109420;23140633;23144463;23148298;23256519;23260141;23396967;23791946;23821037;27214281;29557506;35300692;3616618;36738897;37839333;38112643;38354602;6950381;7797535;8082781;8167409;8168088;8198617;8262072;8386612;8397094;8557170;8612563;8732687;8770894;8906787;8985181;9064337;9135132;9391096;9501980;9674432;9716412", "class_list": "", "function": "Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Plays an important role in the embryonic development of the urogenital tract and the lung (PubMed:15317892, PubMed:16959810, PubMed:18179883, PubMed:18182450). Required for normal mesenchyme to epithelium transition during embryonic kidney development. Required for the formation of early epithelial renal vesicles during kidney development (By similarity). Required for normal formation of the Mullerian duct in females, and normal levels of oocytes in the ovaries (PubMed:15317892, PubMed:16959810, PubMed:18182450). Required for normal down-regulation of 3 beta-hydroxysteroid dehydrogenase in the ovary (PubMed:15317892, PubMed:16959810, PubMed:18182450). Required for normal lung development and for normal patterning of trachael cartilage rings (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Ligand for members of the frizzled family of seven transmembrane receptors., [UniProtKB, UniProtKB, UniProtKB]; Mutation analysis of WNT4 gene in SRY negative 46,XX DSD patients with Mullerian agenesis and/or gonadal dysgenesis- An Indian study., [RefSeq, PubMed]; The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]; WNT4 (rs7521902 and rs16826658) polymorphism and its association with endometriosis - A systematic review and meta-analysis., [RefSeq, PubMed]; WNT4 Regulates Cellular Metabolism via Intracellular Activity at the Mitochondria in Breast and Gynecologic Cancers., [RefSeq, PubMed]; WNT4 promotes macrophage polarization via granulosa cell M-CSF and reduces granulosa cell apoptosis in endometriosis., [RefSeq, PubMed]; Wnt4, Wnt6 and beta-catenin expression in human placental tissue - is there a link with first trimester miscarriage? Results from a pilot study. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DJF9;Q5TZQ0;Q96T81;Q9BXF5;Q9H1J8;Q9UJM2", "ec_number_list": "", "go_molecular_function": "GO:0005109 frizzled binding;GO:0003714 transcription corepressor activity;GO:0005125 cytokine activity;GO:0048018 receptor ligand activity;GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005788 endoplasmic reticulum lumen;GO:0005796 Golgi lumen", "go_biological_process": "GO:0046580 negative regulation of Ras protein signal transduction;GO:0072162 metanephric mesenchymal cell differentiation;GO:0001889 liver development;GO:0010629 negative regulation of gene expression;GO:0043410 positive regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 19.0, "record_id": "P56705-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NYH9-1", "uniprot_id": "UTP6_HUMAN", "mass": 70194.0, "length": 597, "protein_name": "U3 small nucleolar RNA-associated protein 6 homolog", "gene_name": "UTP6", "organism": "Human", "refseq_name": "U3 small nucleolar RNA-associated protein 6 homolog", "refseq_ac": "NP_060898", "gene_names_uniprotkb": "UTP6; C17orf40; HCA66; MHAT", "gene_names_refseq": "C17orf40; HCA66; UTP6", "protein_names_uniprotkb": "U3 small nucleolar RNA-associated protein 6 homolog; Hepatocellular carcinoma-associated antigen 66; Multiple hat domains protein", "protein_names_refseq": "U3 small nucleolar RNA-associated protein 6 homolog; UTP6, small subunit (SSU) processome component, homolog; hepatocellular carcinoma-associated antigen 66; multiple hat domains protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55813); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 139, "publication_id_list": "10606270;10843809;11081632;11237011;11922599;11935223;11978965;12068309;12097419;12150911;12417735;12429849;15199136;16037817;16043514;16381836;16497976;16738141;16782898;17189298;17353269;17412707;17636026;18065403;18438418;18991276;19033376;19106111;19332556;19463982;19564402;19691289;19801658;20038530;20047967;20056613;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22072790;22190735;22195017;22645359;22916032;23391857;23439679;23481700;23482395;2388630;24086612;24366607;24424021;24550520;24714562;24715725;25411247;25525153;25576301;25645385;25653167;25810538;25851604;25880248;25969445;26024233;26085946;26154972;26196125;26237581;26375851;26728094;26811146;26992070;27084949;27397612;27600516;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34433824;34516797;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37938771;9211966;9482744;9512526", "class_list": "", "function": "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. Involved in nucleolar processing of pre-18S ribosomal RNA., [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": 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": "Q8IX96;Q96BL2;Q9NQ91", "ec_number_list": "", "go_molecular_function": "GO:0030515 snoRNA binding", "go_cellular_component": "GO:0034388 Pwp2p-containing subcomplex of 90S preribosome;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005694 chromosome;GO:0032040 small-subunit processome", "go_biological_process": "GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "Q9NYH9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P04435-1", "uniprot_id": "TVB79_HUMAN", "mass": 13107.0, "length": 115, "protein_name": "T cell receptor beta variable 7-9", "gene_name": "TRBV7-9", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV7-9", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 7-9", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-198933); (R-HSA-202424); (R-HSA-202427); (R-HSA-202430); (R-HSA-202433); (R-HSA-389948)", "pathway_count": 6, "publication_count": 160, "publication_id_list": "10499918;10671560;10698680;10716940;10746781;10747096;10790433;10811803;11048639;11265639;11358993;11390650;11489943;11513152;11556966;11607830;11752630;11807247;11827988;11857637;11858820;11861603;11884229;11955593;11955595;11955599;12213321;12473184;12483297;12485116;12588680;12660731;12893276;12938237;12947224;14510693;14514672;14719373;14970179;15034010;15040585;15084594;15122200;15125833;15136729;15145317;15155468;15187158;15304001;15358536;15371334;15489910;15489916;15534202;15541655;15541657;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16056267;16091383;16129954;16339513;16356853;16356855;16364187;16380601;16461343;16551255;16612002;16737824;16754721;16893496;16904340;16928187;16978534;17045824;17047224;17057721;17072321;17135271;17237375;17337780;17363905;17468049;17496917;17548359;17652306;17728323;18031695;18037897;18055229;18173375;18209062;18234675;18593354;18759926;19149696;19359216;19592130;20346773;20452950;20730098;21154117;21241660;21543337;21800138;21841309;21877119;22396535;22426112;23302904;23524462;23580664;23695528;23929856;24194959;2426193;24305946;24600447;2530588;25493333;25703557;25716998;26284469;26300885;27180909;28165004;28265006;29493099;29863979;30522017;31313098;7479848;7531291;7542404;7565724;8178173;8520027;8550590;8601309;8798379;8824201;8995416;9115214;9252186;9285412;9314561;9362451;9687533;9700512;9730896;9846482;9850860;9990853", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 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": 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": "A0A1B0GX54", "ec_number_list": "", "go_molecular_function": "GO:0042605 peptide antigen binding;GO:0042287 MHC protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 16.1, "record_id": "P04435-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q765I0-1", "uniprot_id": "UTS2B_HUMAN", "mass": 13749.0, "length": 119, "protein_name": "Urotensin-2B", "gene_name": "UTS2B", "organism": "Human", "refseq_name": "urotensin-2B precursor", "refseq_ac": "NP_937795", "gene_names_uniprotkb": "UTS2B; URP; UTS2D", "gene_names_refseq": "U-IIB; U2B; UIIB; URP; UTS2B; UTS2D", "protein_names_uniprotkb": "Urotensin-2B; U-IIB; UIIB; Urotensin II-related peptide; Urotensin IIB; Urotensin-2 domain-containing protein", "protein_names_refseq": "prepro-URP; urotensin 2 domain containing; urotensin II-related peptide; urotensin IIB; urotensin-2 domain-containing protein; urotensin-2B precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:257313); (R-HSA-375276); (R-HSA-416476)", "pathway_count": 3, "publication_count": 124, "publication_id_list": "10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;11015615;11237011;11322507;11385580;11457843;11562423;11683476;11742120;11753430;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;16182515;16268778;16339447;1655761;16754659;16923326;16940699;1710450;1710578;1719979;1722333;17327028;17919235;18000598;18127230;18434541;1847994;18515384;18577758;18936096;1905813;21684671;23446738;23690594;24391740;24906252;2649896;27496565;2841328;3086311;3202875;3366244;3525564;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8664309;8666380;8702752;873923;8823230;9171878;9305846;9521323;9530155;9593744;9607765;9685625;9722565;9770463;9792798;9832121;9851594", "class_list": "", "function": "Elevated serum urotensin II is associated with chronic liver disease and portal hypertension, [RefSeq, PubMed]; Family-based analysis of association between blood pressure, glomerular filtration and genes of the urotensin-II pathway (urotensin-II, urotensin-II related peptide, urotensin-II receptor) saturated with 28 tagging single nucleotide polymorphisms Publication Status: Online-Only, [RefSeq, PubMed]; Potent vasoconstrictor., [UniProtKB]; These findings suggest that U-II plays key roles in accelerating the development of atherosclerosis, thereby leading to coronary artery disease. Review article, [RefSeq, PubMed]; U2B'' has a relaxed specificity for its RNA targets., [RefSeq, PubMed]; URP could possibly be the endogenous and functional ligand for the human UII receptor, [RefSeq, PubMed]; Urotensin II gene may contribute to the genetic susceptibility to gestational diabetes mellitus in Chinese population, [RefSeq, PubMed]; Vascular remodelling processes in conjunction with enhanced vasoconstriction are involved in the pathogenesis of pulmonary hypertension; UII may play a novel role in the pathogenesis of this disorder 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": "B3KQY8;D3DNW1;Q2M1Z2", "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": "GO:0008217 regulation of blood pressure;GO:0097746 blood vessel diameter maintenance", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "Q765I0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P41221-1", "uniprot_id": "WNT5A_HUMAN", "mass": 42339.0, "length": 380, "protein_name": "Protein Wnt-5a", "gene_name": "WNT5A", "organism": "Human", "refseq_name": "protein Wnt-5a isoform 2 precursor", "refseq_ac": "NP_001243034", "gene_names_uniprotkb": "WNT5A", "gene_names_refseq": "WNT5A; hWNT5A", "protein_names_uniprotkb": "Protein Wnt-5a", "protein_names_refseq": "WNT-5A protein; epididymis secretory sperm binding protein; protein Wnt-5a isoform 2 precursor; protein Wnt-5a; wingless-type MMTV integration site family, member 5A", "tax_id": 9606, "disease": "Robinow syndrome (Disease Ontology:DOID:0060254); autosomal dominant Robinow syndrome 1 (Disease Ontology:DOID:0060766); colon cancer (Disease Ontology:DOID:219); endometrial carcinoma (Disease Ontology:DOID:2871)", "pathway": " (hsa:7474); (R-HSA-201681); (R-HSA-3238698); (R-HSA-373080); (R-HSA-3772470); (R-HSA-4086398); (R-HSA-4086400); (R-HSA-4608870); (R-HSA-5099900); (R-HSA-5140745); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-9673324)", "pathway_count": 13, "publication_count": 479, "publication_id_list": 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"class_list": "", "function": "Differential expression of WNT5A long and short isoforms in non-muscle-invasive bladder urothelial carcinoma., [RefSeq, PubMed]; Ligand for members of the frizzled family of seven transmembrane receptors., [UniProtKB, UniProtKB]; Ligand for members of the frizzled family of seven transmembrane receptors. Can activate or inhibit canonical Wnt signaling, depending on receptor context. In the presence of FZD4, activates beta-catenin signaling. In the presence of ROR2, inhibits the canonical Wnt pathway by promoting beta-catenin degradation through a GSK3-independent pathway which involves down-regulation of beta-catenin-induced reporter gene expression (By similarity). Suppression of the canonical pathway allows chondrogenesis to occur and inhibits tumor formation. Stimulates cell migration. Decreases proliferation, migration, invasiveness and clonogenicity of carcinoma cells and may act as a tumor suppressor (PubMed:15735754). Mediates motility of melanoma cells (PubMed:17426020). Required during embryogenesis for extension of the primary anterior-posterior axis and for outgrowth of limbs and the genital tubercle. Inhibits type II collagen expression in chondrocytes (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed]; The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene encodes a member of the WNT family that signals through both the canonical and non-canonical WNT pathways. This protein is a ligand for the seven transmembrane receptor frizzled-5 and the tyrosine kinase orphan receptor 2. This protein plays an essential role in regulating developmental pathways during embryogenesis. This protein may also play a role in oncogenesis. Mutations in this gene are the cause of autosomal dominant Robinow syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]., [RefSeq]; Upregulated miR-374a-5p drives psoriasis pathogenesis through WIF1 downregulation and Wnt5a/NF-kappaB activation., [RefSeq, PubMed]; WNT5A is a putative epi-driver of prostate cancer metastasis to the bone., [RefSeq, PubMed]; Wnt5a-mediated autophagy contributes to the epithelial-mesenchymal transition of human bronchial epithelial cells during asthma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "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": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K4A4;Q6P278", "ec_number_list": "", "go_molecular_function": "GO:0005109 frizzled binding;GO:0005543 phospholipid binding;GO:0019904 protein domain specific binding;GO:0005125 cytokine activity;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005796 Golgi lumen", "go_biological_process": "GO:0043032 positive regulation of macrophage activation;GO:0048806 genitalia development;GO:0060760 positive regulation of response to cytokine stimulus;GO:0099054 presynapse assembly;GO:0010742 macrophage derived foam cell differentiation", "synthesized_glycan_count": 0, "hit_score": 49.6, "record_id": "P41221-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A4D1E1-1", "uniprot_id": "Z804B_HUMAN", "mass": 152573.0, "length": 1349, "protein_name": "Zinc finger protein 804B", "gene_name": "ZNF804B", "organism": "Human", "refseq_name": "zinc finger protein 804B", "refseq_ac": "NP_857597", "gene_names_uniprotkb": "ZNF804B", "gene_names_refseq": "ZNF804B", "protein_names_uniprotkb": "Zinc finger protein 804B", "protein_names_refseq": "zinc finger 804B; zinc finger protein 804B", "tax_id": 9606, "disease": "", "pathway": " (hsa:219578); (R-HSA-212436)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;20068231;20230923;20547088;21079607;2163759;28411811;29557506;30379171;31844290;33592498;35051231;37217939;8183939;8769649;9637681;9653119", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 38, "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": "B2RTV2;Q7Z714;Q96MN7", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "A4D1E1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NET8-1", "uniprot_id": "TRPV3_HUMAN", "mass": 90636.0, "length": 790, "protein_name": "Transient receptor potential cation channel subfamily V member 3", "gene_name": "TRPV3", "organism": "Human", "refseq_name": "transient receptor potential cation channel subfamily V member 3 isoform 2", "refseq_ac": "NP_659505", "gene_names_uniprotkb": "TRPV3", "gene_names_refseq": "FNEPPK2; OLMS1; OLMS; TRPV3; VRL3", "protein_names_uniprotkb": "Transient receptor potential cation channel subfamily V member 3; TrpV3; VRL-3; Vanilloid receptor-like 3", "protein_names_refseq": "VRL-3; transient receptor potential cation channel subfamily V member 3 isoform 2; vanilloid receptor-like 3; vanilloid receptor-related osmotically activated channel protein", "tax_id": 9606, "disease": "congenital stationary night blindness (Disease Ontology:DOID:0050534); focal nonepidermolytic palmoplantar keratoderma 2 (Disease Ontology:DOID:0111711); autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques (Disease Ontology:DOID:0112013); migraine with aura (Disease Ontology:DOID:10024); dermatitis (Disease Ontology:DOID:2723); atopic dermatitis (Disease Ontology:DOID:3310); schizophrenia (Disease Ontology:DOID:5419); rosacea (Disease Ontology:DOID:8881); colorectal cancer (Disease Ontology:DOID:9256); alopecia (Disease Ontology:DOID:987)", "pathway": " (hsa:162514); (R-HSA-3295583)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "11050376;11226139;11237011;11243859;11301059;12015988;12077604;12077606;1422598;14634208;17521436;20025796;20716668;21593771;22405088;22835024;25285920;25389312;25765567;25855297;26818531;28904123;29084846;29769354;30418433;31844290;33392160;35051231;35580925;36284347;37344508;37648856;37855862;38648901;38691614", "class_list": "", "function": "Accumulation of TRPV1 and TRPV3 in peripheral nerves after injury, in spared axons, matches our previously reported changes in avulsed DRG. Publication Status: Online-Only, [RefSeq, PubMed]; Aging is associated with impaired triggering of TRPV3-mediated cutaneous vasodilation: a crucial process for local heat exposure., [RefSeq, PubMed]; FRET analysis of the temperature-induced structural changes in human TRPV3. Publication Status: Online-Only, [RefSeq, PubMed]; Member of the vanilloid channel family that is expressed in skin, tongue, dorsal root ganglion, trigeminal ganglion, spinal cord and brain; a calcium-permeable temperature-sensitive cation channel, [RefSeq, PubMed]; Non-selective calcium permeant cation channel (PubMed:12077604, PubMed:12077606, PubMed:26818531, PubMed:37648856, PubMed:38691614). It is activated by innocuous (warm) temperatures and shows an increased response at noxious temperatures greater than 39 degrees Celsius (PubMed:12077604, PubMed:12077606). Activation exhibits an outward rectification (PubMed:12077604). The channel pore can dilate to provide permeability to larger cations (PubMed:37648856). May associate with TRPV1 and may modulate its activity (PubMed:12077606). Is a negative regulator of hair growth and cycling: TRPV3-coupled signaling suppresses keratinocyte proliferation in hair follicles and induces apoptosis and premature hair follicle regression (catagen) (PubMed:21593771)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Non-selective calcium permeant cation channel. It is activated by innocuous (warm) temperatures and shows an increased response at noxious temperatures greater than 39 degrees Celsius. Activation exhibits an outward rectification. The channel pore can dilate to provide permeability to larger cations. May associate with TRPV1 and may modulate its activity. Is a negative regulator of hair growth and cycling: TRPV3-coupled signaling suppresses keratinocyte proliferation in hair follicles and induces apoptosis and premature hair follicle regression (catagen)., [UniProtKB, UniProtKB]; TRPV3 promotes sebocyte inflammation via transcriptional modulating TLR2 in acne., [RefSeq, PubMed]; Temperature-sensitive (but capsaicin-insensitive) vanilloid receptor-like protein; may represent an additional vanilloid receptor subunit involved in the formation of heteromeric vanilloid receptor channels, [RefSeq, PubMed]; This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 11, "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": "Q8NDW7;Q8NET9;Q8NFH2", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0005262 calcium channel activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0005272 sodium channel activity;GO:0005216 monoatomic ion channel activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005929 cilium;GO:0043235 receptor complex;GO:0005764 lysosome", "go_biological_process": "GO:0007231 osmosensory signaling pathway;GO:0007015 actin filament organization;GO:0070588 calcium ion transmembrane transport;GO:0090280 positive regulation of calcium ion import;GO:0098703 calcium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q8NET8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3KQV9-1", "uniprot_id": "UAP1L_HUMAN", "mass": 57030.0, "length": 507, "protein_name": "UDP-N-acetylhexosamine pyrophosphorylase-like protein 1", "gene_name": "UAP1L1", "organism": "Human", "refseq_name": "UDP-N-acetylhexosamine pyrophosphorylase-like protein 1", "refseq_ac": "NP_997192", "gene_names_uniprotkb": "UAP1L1", "gene_names_refseq": "UAP1L1", "protein_names_uniprotkb": "UDP-N-acetylhexosamine pyrophosphorylase-like protein 1; 2.7.7.-", "protein_names_refseq": "UDP-N-acetylhexosamine pyrophosphorylase-like protein 1; UDP-N-acteylglucosamine pyrophosphorylase 1-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:91373)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;25576301;25880248;26154972;27600516;27846572;28832583;29242379;29351928;29393594;29493099;30097606;30315122;31844290;32157095;32310823;32357974;32488085;32983136;33434300;33592498;33968037;33981976;34932366;35051231;35580925;36010968;36284347;37938771;40914422", "class_list": "", "function": "Identification of UAP1L1 as tumor promotor in gastric cancer through regulation of CDK6., [RefSeq, PubMed]; Silencing of UAP1L1 inhibits proliferation and induces apoptosis in esophageal squamous cell carcinoma., [RefSeq, PubMed]; UAP1L1 is upregulated in a distinct subset of HCC tissues. Patients with upregulated expression of UAP1L1 have a poor prognosis. UAP1L1 overexpression promoted, and UAP1L1 knockdown reduced the proliferation of human hepatoma cells both in vitro and in vivo. UAP1L1 directly interacts with OGT but is not a substrate and cannot activate it alone.UAP1L1 knockdown attenuated c-MYC O-GlcNAcylation and protein 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": 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": 8, "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": "A2AMJ8;Q5SPZ2;Q69YQ3;Q6ZR38", "ec_number_list": "", "go_molecular_function": "GO:0003977 UDP-N-acetylglucosamine diphosphorylase activity", "go_cellular_component": "", "go_biological_process": "GO:0006048 UDP-N-acetylglucosamine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q3KQV9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BQB6-1", "uniprot_id": "VKOR1_HUMAN", "mass": 18235.0, "length": 163, "protein_name": "Vitamin K epoxide reductase complex subunit 1", "gene_name": "VKORC1", "organism": "Human", "refseq_name": "vitamin K epoxide reductase complex subunit 1 isoform 3", "refseq_ac": "NP_001298240", "gene_names_uniprotkb": "VKORC1; MSTP134; MSTP576; PRO351; VKOR", "gene_names_refseq": "EDTP308; MST134; MST576; VKCFD2; VKORC1; VKOR", "protein_names_uniprotkb": "Vitamin K epoxide reductase complex subunit 1; 1.17.4.4; Vitamin K1 2,3-epoxide reductase subunit 1", "protein_names_refseq": "phylloquinone epoxide reductase; vitamin K dependent clotting factors deficiency 2; vitamin K epoxide reductase complex subunit 1 isoform 3; vitamin K oxidoreductase; vitamin K1 2,3-epoxide reductase subunit 1; vitamin K1 epoxide reductase (warfarin-sensitive)", "tax_id": 9606, "disease": "warfarin resistance (Disease Ontology:DOID:0080665); warfarin sensitivity (Disease Ontology:DOID:0080666); combined deficiency of vitamin K-dependent clotting factors 2 (Disease Ontology:DOID:0112174)", "pathway": " (hsa:79001); (R-HSA-6806664)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "11237011;12060134;12975309;14765194;14765195;15276181;15716279;15743920;15879509;16270630;18446792;20696932;20946155;20953171;20978134;21367861;22923610;23481700;23919835;23928358;24085302;24406068;24532791;24714562;24715725;25418920;25639072;25742604;25874989;26154972;27846572;27862975;27918545;27920218;27941861;28228285;28832583;28904123;29393594;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30833945;31154438;31844290;31848261;31998317;32157095;32502341;32897882;32938616;33141586;33154105;33298915;33592498;33936100;34171305;34211107;34932366;35051231;35580925;37505171;37653796;37938771;38056237;38665916;38674033", "class_list": "", "function": "Association among VKORC1 rs9923231, CYP4F2 rs2108622, GGCX rs11676382 polymorphisms and acute ischemic stroke., [RefSeq, PubMed]; Frequency of polymorphisms in the CYP2C9, VKORC1, and CYP4F2 genes related to the metabolism of Warfarin in healthy donors from Cali, Colombia., [RefSeq, PubMed]; Identification of the gene for VKOR based on specific inhibition of VKOR activity by a single siRNA pool, [RefSeq, PubMed]; Involved in vitamin K metabolism. Catalytic subunit of the vitamin K epoxide reductase (VKOR) complex which reduces inactive vitamin K 2,3-epoxide to active vitamin K. Vitamin K is required for the gamma-carboxylation of various proteins, including clotting factors, and is required for normal blood coagulation, but also for normal bone development., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Is a Vitamin K Epoxide Reductase Complex Subunit 1 (VKORC1) Polymorphism a Risk Factor for Nephrolithiasis in Sarcoidosis? Publication Status: Online-Only, [RefSeq, PubMed]; New insights into the role of VKORC1 polymorphisms for optimal warfarin dose selection in Caribbean Hispanic patients through an external validation of a population PK/PD model., [RefSeq, PubMed]; This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reticulum membrane. Vitamin K is a required co-factor for carboxylation of glutamic acid residues by vitamin K-dependent gamma-carboxylase in blood-clotting enzymes. Allelic variation in this gene is associated with vitamin k-dependent clotting factors combined deficiency of 2, and increased resistance or sensitivity to warfarin, an inhibitor of vitamin K epoxide reductase. Pseudogenes of this gene are located on chromosomes 1 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]., [RefSeq]; Using a positional cloning approach that integrated mapping information from three species, the gene VKORC1 that is mutated in combined deficiency of vitamin-K-dependent clotting factors type 2 and warfarin resistance was 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 27, "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": "A6NIQ6;B2R4Z6;Q6UX90;Q7Z2R4", "ec_number_list": "1.17.4.4", "go_molecular_function": "GO:0047057 vitamin-K-epoxide reductase (warfarin-sensitive) activity;GO:0047058 vitamin-K-epoxide reductase (warfarin-insensitive) activity;GO:0048038 quinone binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0007596 blood coagulation;GO:0006805 xenobiotic metabolic process;GO:0060348 bone development;GO:0017187 peptidyl-glutamic acid carboxylation;GO:0042373 vitamin K metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9BQB6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N427-1", "uniprot_id": "NDK8_HUMAN", "mass": 67270.0, "length": 588, "protein_name": "Protein NME8", "gene_name": "NME8", "organism": "Human", "refseq_name": "protein NME8", "refseq_ac": "NP_057700", "gene_names_uniprotkb": "NME8; SPTRX2; TXNDC3", "gene_names_refseq": "CILD6; DNAI8; HEL-S-99; NDK8; NM23-H8; NME8; SPTRX2; TXNDC3; sptrx-2", "protein_names_uniprotkb": "Protein NME8; 2.7.-.-; 3.1.11.-; NDK8; NM23-H8; NME/NM23 family member 8; Nucleoside diphosphate kinase 8; Protein kinase NME8; Putative 3'-5'-DNA exonuclease NDK8; Spermatid-specific thioredoxin-2; Sptrx-2; Thioredoxin domain-containing protein 3", "protein_names_refseq": "3'-5' exonuclease NME8; epididymis secretory protein Li 99; nucleoside diphosphate kinase 8; protein NME8; protein kinase NME8; putative 3'-5'-DNA exonuclease NDK8; sperm-specific thioredoxin 2; spermatid-specific thioredoxin-2; thioredoxin domain containing 3 (spermatozoa); thioredoxin domain-containing protein 3", "tax_id": 9606, "disease": "primary ciliary dyskinesia 6 (Disease Ontology:DOID:0110606)", "pathway": " (hsa:51314)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;11737268;11768308;16313181;16959974;17360648;25672891;26375851;27144521;27781389;27862975;28218747;28832583;29242379;29437277;29557506;29605689;32157095;32983136;33603952;34932366;35051231;35580925;36241641;39894887", "class_list": "", "function": "Addition of the minor allele for rs670139 (MS4A4E), rs9331896 (CLU), and rs12155159 (NME8) was nominally associated with change on the DWRT, DSST, and WFT, respectively, in whites., [RefSeq, PubMed]; GPR141-NME8 locus had strong genetic effect on the susceptibility to generalized periodontitis in Japanese individuals with history of smoking. identified 2 suggestive loci for periodontitis in a Japanese population., [RefSeq, PubMed]; Possesses an intrinsic kinase activity (PubMed:16313181). In vitro, does not exhibit nucleoside diphosphate kinase (NDPK) activity or disulfide bond-reducing activity (PubMed:11737268, PubMed:16313181). Additionally, exhibits a 3'-5'-DNA exonuclease activity that removes single nucleotides from the 3' terminus of single-stranded DNA substrates and digests overhanging mismatched 3' termini from double-stranded DNA substrates, suggesting a role in DNA nucleolytic processing (PubMed:16313181). May be required during the final stages of sperm tail maturation in the testis and/or epididymis, where extensive disulfide bonding of fibrous sheath (FS) proteins occurs (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Primary ciliary dyskinesia is caused by an SNP-induced modification of the ratio of two physiological isoforms of TXNDC3 generated by alternative splicing. Erratum:[Proc Natl Acad Sci U S A. 2007 Apr 10;104(15):6490], [RefSeq, PubMed]; Studies suggest that the rs2718058 near gene NME8 on chromosome 7p14.1 might not play a major role in the genetic predisposition to late-onset Alzheimer's disease (LOAD) in the North Han Chinese., [RefSeq, PubMed]; Testis-Specific Thioredoxins TXNDC2, TXNDC3, and TXNDC6 Are Expressed in Both Testicular and Systemic DLBCL and Correlate with Clinical Disease Presentation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9NZH1", "ec_number_list": "", "go_molecular_function": "GO:0008296 3'-5'-DNA exonuclease activity;GO:0008017 microtubule binding;GO:0016740 transferase activity", "go_cellular_component": "GO:0097598 sperm cytoplasmic droplet;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005930 axoneme", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0030317 flagellated sperm motility;GO:0060271 cilium assembly;GO:0006308 DNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q8N427-1", "record_type": "protein" }, { "uniprot_canonical_ac": "D6RBQ6-1", "uniprot_id": "U17LH_HUMAN", "mass": 59627.0, "length": 530, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 17", "gene_name": "USP17L17", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 17-like protein 17", "refseq_ac": "NP_001243786", "gene_names_uniprotkb": "USP17L17", "gene_names_refseq": "USP17L17", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 17; 3.4.19.12", "protein_names_refseq": "ubiquitin carboxyl-terminal hydrolase 17-like protein 17", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:100287327); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10444327;10982817;11566882;11923872;12917689;12917691;14661020;15053880;15916963;16214042;16901786;16964248;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24896179;25197364;25305019;25578727;7578059", "class_list": "", "function": "Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "3.4.19.12;3.6.4.13;3.1.3.48;3.4.26.1", "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "D6RBQ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NH52-1", "uniprot_id": "TV23A_HUMAN", "mass": 24111.0, "length": 213, "protein_name": "Golgi apparatus membrane protein TVP23 homolog A", "gene_name": "TVP23A", "organism": "Human", "refseq_name": "Golgi apparatus membrane protein TVP23 homolog A isoform 1", "refseq_ac": "NP_001072980", "gene_names_uniprotkb": "TVP23A; FAM18A", "gene_names_refseq": "FAM18A; TVP23A; YDR084C", "protein_names_uniprotkb": "Golgi apparatus membrane protein TVP23 homolog A", "protein_names_refseq": "Golgi apparatus membrane protein TVP23 homolog A isoform 1; Golgi apparatus membrane protein TVP23 homolog A; family with sequence similarity 18, member A; protein FAM18A", "tax_id": 9606, "disease": "", "pathway": " (hsa:780776)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;31844290;33717175", "class_list": "", "function": "This gene encodes a membrane protein associated with the Golgi apparatus, which plays a crucial role in intracellular vesicular transport. The encoded protein is likely associated with the late (trans) Golgi compartments, which are involved in the delivery of secretory and membrane proteins to the endosome, lysosome or the plasma membrane. 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": 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": "B2RUV4;B7ZW18", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane", "go_biological_process": "GO:0016192 vesicle-mediated transport;GO:0009306 protein secretion", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A6NH52-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q70CQ3-1", "uniprot_id": "UBP30_HUMAN", "mass": 58503.0, "length": 517, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 30", "gene_name": "USP30", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 30 isoform 2", "refseq_ac": "NP_001288104", "gene_names_uniprotkb": "USP30", "gene_names_refseq": "USP30", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 30; 3.4.19.12; Deubiquitinating enzyme 30; Ub-specific protease 30; Ubiquitin thioesterase 30; Ubiquitin-specific-processing protease 30", "protein_names_refseq": "deubiquitinating enzyme 30; ub-specific protease 30; ubiquitin carboxyl-terminal hydrolase 30 isoform 2; ubiquitin carboxyl-terminal hydrolase 30; ubiquitin thioesterase 30; ubiquitin thiolesterase 30; ubiquitin-specific protease 30; ubiquitin-specific-processing protease 30", "tax_id": 9606, "disease": "", "pathway": " (hsa:84749); (R-HSA-5689880); (R-HSA-9664873)", "pathway_count": 3, "publication_count": 95, "publication_id_list": "10.1101/2023.09.13.557529;10444327;10982817;11237011;11566882;11923872;12917689;12917691;14661020;14715245;15053880;15916963;16214042;16901786;16964248;17290220;17443180;17580304;17873522;17980597;17981138;18172164;18287522;18467330;18632802;18636086;19015242;19135894;19188362;19250911;19363159;19398555;19398892;19424180;19838211;19874889;19910467;20096447;20228808;20368735;20501646;20966255;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24715725;24896179;25197364;25305019;25440060;25527291;25576301;25578727;25621951;25645385;25892735;26344566;26992070;27068951;28228285;28832583;28834231;29242379;29557506;29769354;30410026;30429286;30700497;31131315;31356149;31844290;32157095;33298915;33912179;34694569;35051231;36284347;38040789;7578059", "class_list": "", "function": "Deubiquitinating enzyme tethered to the mitochondrial outer membrane that acts as a key inhibitor of mitophagy by counteracting the action of parkin (PRKN): hydrolyzes ubiquitin attached by parkin on target proteins, such as RHOT1/MIRO1 and TOMM20, thereby blocking parkin's ability to drive mitophagy (PubMed:18287522, PubMed:24896179, PubMed:25527291, PubMed:25621951). Preferentially cleaves 'Lys-6'- and 'Lys-11'-linked polyubiquitin chains, 2 types of linkage that participate in mitophagic signaling (PubMed:25621951). Does not cleave efficiently polyubiquitin phosphorylated at 'Ser-65' (PubMed:25527291). Acts as a negative regulator of mitochondrial fusion by mediating deubiquitination of MFN1 and MFN2 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; LncRNA USP30-AS1 promotes the survival of acute myeloid leukemia cells by cis-regulating USP30 and ANKRD13A., [RefSeq, PubMed]; Reducing USP30 activity enhances mitochondrial degradation in neurons, [RefSeq, PubMed]; The mechanism by which parkin, an E3 ubiquitin ligase, and USP30, a mitochondrion-localized deubiquitylase, regulate mitophagy, was investigated., [RefSeq, PubMed]; USP30 inhibition protects dopaminergic neurons., [RefSeq, PubMed]; USP30 participates in the maintenance of mitochondrial morphology, a finding that provides new insight into the cellular function of deubiquitination., [RefSeq, PubMed]; USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 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": 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": 5, "reported_glycation": 0, "reported_snv": 17, "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": "Q8WTU7;Q96JX4;Q9BSS3", "ec_number_list": "3.4.24.56;2.7.11.1;5.2.1.8;3.4.19.12;3.6.5.-;2.3.2.27;3.1.1.29", "go_molecular_function": "GO:0004197 cysteine-type endopeptidase activity;GO:0004843 cysteine-type deubiquitinase activity;GO:0101005 deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005778 peroxisomal membrane;GO:0005829 cytosol", "go_biological_process": "GO:1901525 negative regulation of mitophagy;GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability;GO:0008053 mitochondrial fusion", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q70CQ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q70EL3-1", "uniprot_id": "UBP50_HUMAN", "mass": 38955.0, "length": 339, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 50", "gene_name": "USP50", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 50", "refseq_ac": "NP_987090", "gene_names_uniprotkb": "USP50", "gene_names_refseq": "USP50", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 50; 3.4.19.12; Ubiquitin-specific peptidase 50", "protein_names_refseq": "inactive ubiquitin carboxyl-terminal hydrolase 50; inactive ubiquitin-specific peptidase 50; ubiquitin carboxyl-terminal hydrolase 50; ubiquitin specific protease 50", "tax_id": 9606, "disease": "", "pathway": " (hsa:373509)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;14715245;15060002;20930503;25892735;28094437;29101126;36876523;37217939;38469295;39284827", "class_list": "", "function": "Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes. Regulates the inflammasome signaling pathway by deubiquitinating 'Lys-63'-linked polyubiquitination of the PYCARD/ASC adapter protein (PubMed:28094437). Regulates the ubiquitination and stability of the ACE2 protein (PubMed:36876523). Acts as a negative regulator of the G2/M checkpoint pathway, by preventing serine/threonine kinase WEE1 degradation, thereby repressing entry into mitosis following activation of the G2/M DNA damage checkpoint (PubMed:20930503)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The deubiquitinating enzyme USP50 binds to the ASC protein and subsequently regulates the inflammasome signaling pathway., [RefSeq, PubMed]; USP50 may act through a HSP90-dependent mechanism to counteract CDC25B mitotic inducing activity and prevent Wee1 degradation., [RefSeq, PubMed]; USP50 regulates NLRP3 inflammasome activation in duodenogastric reflux-induced gastric tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; USP50 suppresses alternative RecQ helicase use and deleterious DNA2 activity during replication. Publication Status: Online-Only, [RefSeq, PubMed]; Verexpression of USP50 has no effect on Ku70 mRNA levels, while it reduces Ku70 protein levels by promoting Ku70 degradation, suggesting that USP50 may indirectly regulate Ku70 protein 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": 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": "E9PP86", "ec_number_list": "", "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity;GO:0019783 ubiquitin-like protein peptidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0014069 postsynaptic density", "go_biological_process": "GO:0016579 protein deubiquitination;GO:0007265 Ras protein signal transduction;GO:0007032 endosome organization;GO:0035063 nuclear speck organization;GO:0032731 positive regulation of interleukin-1 beta production", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q70EL3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NER1-1", "uniprot_id": "TRPV1_HUMAN", "mass": 94956.0, "length": 839, "protein_name": "Transient receptor potential cation channel subfamily V member 1", "gene_name": "TRPV1", "organism": "Human", "refseq_name": "transient receptor potential cation channel subfamily V member 1", "refseq_ac": "NP_061197", "gene_names_uniprotkb": "TRPV1; VR1", "gene_names_refseq": "TRPV1; VR1", "protein_names_uniprotkb": "Transient receptor potential cation channel subfamily V member 1; Capsaicin receptor; OTRPC1; Osm-9-like TRP channel 1; TrpV1; Vanilloid receptor 1", "protein_names_refseq": "OTRPC1; capsaicin receptor; osm-9-like TRP channel 1; transient receptor potential cation channel subfamily V member 1; transient receptor potential vanilloid 1a; transient receptor potential vanilloid 1b; vanilloid receptor subtype 1", "tax_id": 9606, "disease": "overactive bladder syndrome (Disease Ontology:DOID:0070355); gastric ulcer (Disease Ontology:DOID:10808); sciatic neuropathy (Disease Ontology:DOID:11446); reflex epilepsy (Disease Ontology:DOID:2548); myocardial infarction (Disease Ontology:DOID:5844); migraine (Disease Ontology:DOID:6364); cocaine abuse (Disease Ontology:DOID:809); diabetic neuropathy (Disease Ontology:DOID:9743); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:7442); (R-HSA-3295583)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "11050376;11226139;11230166;11237011;11243859;11301059;11884385;12015988;12077606;12194871;1422598;14523239;14630912;14634208;14987252;14996838;15471852;16319926;18452278;20025796;20716668;25389312;25765567;25855297;26376215;29557506;29656858;31844290;32938616;33968037;35051231;36010968;37117175;38927688;39090761;39223911;39226353;39332490;39894887", "class_list": "", "function": "Association between Variants of the TRPV1 Gene and Body Composition in Sub-Saharan Africans. Publication Status: Online-Only, [RefSeq, PubMed]; Capsaicin, the main pungent ingredient in hot chili peppers, elicits a sensation of burning pain by selectively activating sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this gene is a receptor for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This receptor is also activated by increases in temperature in the noxious range, suggesting that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding the same protein, but with different 5' UTR sequence, have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; METTL3/IGF2BP1 influences the development of non-small-cell lung cancer by mediating m6A methylation modification of TRPV1., [RefSeq, PubMed]; Non-selective calcium permeant cation channel involved in detection of noxious chemical and thermal stimuli (PubMed:11050376, PubMed:11243859, PubMed:11226139, PubMed:12077606). Seems to mediate proton influx and may be involved in intracellular acidosis in nociceptive neurons. Involved in mediation of inflammatory pain and hyperalgesia. Sensitized by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases, which involves PKC isozymes and PCL. Activated by vanilloids, like capsaicin, and temperatures higher than 42 degrees Celsius (PubMed:37117175). Upon activation, exhibits a time- and Ca(2+)-dependent outward rectification, followed by a long-lasting refractory state. Mild extracellular acidic pH (6.5) potentiates channel activation by noxious heat and vanilloids, whereas acidic conditions (pH <6) directly activate the channel. Can be activated by endogenous compounds, including 12-hydroperoxytetraenoic acid and bradykinin. Acts as ionotropic endocannabinoid receptor with central neuromodulatory effects. Triggers a form of long-term depression (TRPV1-LTD) mediated by the endocannabinoid anandamine in the hippocampus and nucleus accumbens by affecting AMPA receptors endocytosis., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; TRPV1 corneal neuralgia mutation: Enhanced pH response, bradykinin sensitization, and capsaicin desensitization., [RefSeq, PubMed]; The role of TRPA1 and TRPV1 in the perception of astringency., [RefSeq, PubMed]; Tubulin interaction at tubulin-binding sequence 1 (TBS1) is required for proper surface expression and TRPV1 channel activity., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2RUA9;Q3LU47;Q9H0G9;Q9H303;Q9H304;Q9NQ74;Q9NY22", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005262 calcium channel activity;GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045211 postsynaptic membrane;GO:0032591 dendritic spine membrane", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007166 cell surface receptor signaling pathway;GO:0051289 protein homotetramerization;GO:0034605 cellular response to heat;GO:0050965 detection of temperature stimulus involved in sensory perception of pain", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q8NER1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TEY7-1", "uniprot_id": "UBP33_HUMAN", "mass": 106727.0, "length": 942, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 33", "gene_name": "USP33", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 33 isoform 1", "refseq_ac": "NP_055832", "gene_names_uniprotkb": "USP33; KIAA1097; VDU1", "gene_names_refseq": "USP33; VDU1", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 33; 3.4.19.12; Deubiquitinating enzyme 33; Ubiquitin thioesterase 33; Ubiquitin-specific-processing protease 33; VHL-interacting deubiquitinating enzyme 1; hVDU1", "protein_names_refseq": "VHL-interacting deubiquitinating enzyme 1; deubiquitinating enzyme 33; pVHL-interacting deubiquitinating enzyme 1; ubiquitin carboxyl-terminal hydrolase 33 isoform 1; ubiquitin carboxyl-terminal hydrolase 33; ubiquitin thioesterase 33; ubiquitin thiolesterase 33; ubiquitin-specific-processing protease 33", "tax_id": 9606, "disease": "", "pathway": " (hsa:23032); (R-HSA-5689880); (R-HSA-9010553)", "pathway_count": 3, "publication_count": 129, "publication_id_list": "10.1101/2023.09.13.557529;10444327;10982817;11237011;11566882;11739384;11923872;12865408;12917689;12917691;14661020;15053880;15916963;16214042;16901786;16964248;17290220;17443180;17766394;17873522;17980597;17981138;18172164;18467330;18632802;18636086;18669648;18991276;19015242;19118533;19135894;19188362;19363159;19398555;19424180;19706539;19838211;19874889;19910467;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21801292;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23166351;23217742;23395819;23481700;23486064;23746841;23824326;23825189;24056413;24260525;24275569;24493797;24714562;24715725;24896179;25197364;25242263;25305019;25576301;25578727;25645385;26375851;26728094;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29786170;29789417;30410026;30429286;30484775;31844290;32157095;32357974;32387766;32488085;32938616;32983136;33141586;33298915;33592498;33717175;33968037;34171305;34357683;34470581;34509645;34932366;35051231;35191554;35561310;35580925;36010968;36215666;36241641;36284347;37076992;37938771;39256572;7578059", "class_list": "", "function": "Deubiquitinating enzyme involved in various processes such as centrosome duplication, cellular migration and beta-2 adrenergic receptor/ADRB2 recycling. Involved in regulation of centrosome duplication by mediating deubiquitination of CCP110 in S and G2/M phase, leading to stabilize CCP110 during the period which centrioles duplicate and elongate. Involved in cell migration via its interaction with intracellular domain of ROBO1, leading to regulate the Slit signaling. Plays a role in commissural axon guidance cross the ventral midline of the neural tube in a Slit-dependent manner, possibly by mediating the deubiquitination of ROBO1. Acts as a regulator of G protein-coupled receptor (GPCR) signaling by mediating the deubiquitination of beta-arrestins (ARRB1 and ARRB2) and beta-2 adrenergic receptor (ADRB2). 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, leading to beta-arrestins deubiquitination and disengagement from ADRB2. This suggests the existence of a dynamic exchange between the ADRB2 and beta-arrestins. Deubiquitinates DIO2, thereby regulating thyroid hormone regulation. Mediates deubiquitination of both 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a deubiquinating enzyme important in a variety of processes, including Slit-dependent cell migration and beta-2 adrenergic receptor signaling. The protein is negatively regulated through ubiquitination by von Hippel-Lindau tumor protein (VHL). Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]., [RefSeq]; USP33 deubiquitinates and stabilizes HIF-2alpha to promote hypoxia response in glioma stem cells., [RefSeq, PubMed]; USP33 enhances cell survival and stemness by deubiquitinating CTNNB1 in BXPC-3 and SW1990 cells., [RefSeq, PubMed]; USP33 facilitates the ovarian cancer progression via deubiquitinating and stabilizing CBX2., [RefSeq, PubMed]; Ubiquitin specific peptidase 33 promotes cell proliferation and reduces apoptosis through regulation of the SP1/PI3K/AKT pathway in retinoblastoma., [RefSeq, PubMed]; VDU1 has a role in amplifying the increase in type 2 iodothyronine deiodinase activity that results from catecholamine-stimulated de novo synthesis, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 11, "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": "Q8TEY6;Q96AV6;Q9H9F0;Q9UPQ5", "ec_number_list": "3.4.19.12", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0001664 G protein-coupled receptor binding;GO:0031267 small GTPase binding;GO:0004197 cysteine-type endopeptidase activity;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0030891 VCB complex;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0006897 endocytosis;GO:0007399 nervous system development;GO:0016477 cell migration;GO:0016579 protein deubiquitination;GO:0070536 protein K63-linked deubiquitination", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "Q8TEY7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75191-1", "uniprot_id": "XYLB_HUMAN", "mass": 58382.0, "length": 536, "protein_name": "Xylulose kinase", "gene_name": "XYLB", "organism": "Human", "refseq_name": "xylulose kinase isoform 2", "refseq_ac": "NP_005099", "gene_names_uniprotkb": "XYLB", "gene_names_refseq": "XYLB", "protein_names_uniprotkb": "Xylulose kinase; 2.7.1.17; Xylulokinase", "protein_names_refseq": "D-xylulokinase; xylulokinase homolog (H. influenzae); xylulose kinase isoform 2; xylulose kinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:9942); (R-HSA-5661270)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "11237011;11882650;12962626;15103634;15809331;22042873;23027762;23179721;25855559;2691249;26992070;27600516;28832583;28834231;29242379;29393594;29632046;30833945;31154438;31222486;31844290;32157095;32387766;32488085;32938616;3365415;33912179;34087483;34171305;34932366;35051231;35580925;35705054;36010968;36215666;4392213;7669785;8487505;8722620;9763671", "class_list": "", "function": "Crystals of D-xylulokinase proved to be trigonal, with point-group symmetry 3 and unit-cell parameters a = b = 101.87, c = 158.85 A degrees, [RefSeq, PubMed]; Phosphorylates D-xylulose to produce D-xylulose 5-phosphate, a molecule that may play an important role in the regulation of glucose metabolism and lipogenesis., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Single nucleotide polymorphisms in nNOS, renalase, MTHFR, CELSR1 and XYLB genes were found significantly associated with ischemic stroke in Chinese patients., [RefSeq, PubMed]; The protein encoded by this gene shares 22% sequence identity with Hemophilus influenzae xylulokinase, and even higher identity to other gene products in C.elegans (45%) and yeast (31-35%), which are thought to belong to a family of enzymes that include fucokinase, gluconokinase, glycerokinase and xylulokinase. These proteins play important roles in energy metabolism. [provided by RefSeq, Aug 2009]., [RefSeq]; Xylulose binds to domain-I and ADP to domain-II, but in an open form of D-xylulokinase they are 10 A apart, implying that a large scale conformational change is required for catalysis., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RAW4;B4DDT2;B9EH64", "ec_number_list": "2.7.1.17", "go_molecular_function": "GO:0005524 ATP binding;GO:0004856 D-xylulokinase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0005997 xylulose metabolic process;GO:0042732 D-xylose metabolic process;GO:0006091 generation of precursor metabolites and energy;GO:0005975 carbohydrate metabolic process;GO:0019640 D-glucuronate catabolic process to D-xylulose 5-phosphate", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "O75191-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZT12-1", "uniprot_id": "UBR3_HUMAN", "mass": 212433.0, "length": 1888, "protein_name": "E3 ubiquitin-protein ligase UBR3", "gene_name": "UBR3", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase UBR3", "refseq_ac": "NP_742067", "gene_names_uniprotkb": "UBR3; KIAA2024; ZNF650", "gene_names_refseq": "UBR3; ZNF650", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase UBR3; 2.3.2.27; N-recognin-3; RING-type E3 ubiquitin transferase UBR3; Ubiquitin-protein ligase E3-alpha-3; Ubiquitin-protein ligase E3-alpha-III; Zinc finger protein 650", "protein_names_refseq": "E3 ubiquitin-protein ligase UBR3; N-recognin-3; RING-type E3 ubiquitin transferase UBR3; ubiquitin protein ligase E3 component n-recognin 3 (putative); ubiquitin-protein ligase E3-alpha-3; ubiquitin-protein ligase E3-alpha-III; zinc finger protein 650", "tax_id": 9606, "disease": "", "pathway": " (hsa:130507)", "pathway_count": 1, "publication_count": 66, "publication_id_list": "11237011;19910543;20220067;21933813;23481700;24029068;24715725;25418920;25576301;25880248;26059563;26154972;26375851;26992070;27331610;27600516;27846572;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29786170;29789417;30315122;30429286;31217245;31844290;32157095;32350084;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34509645;35051231;35332432;35561310;35580925;36010968;36215666;36241641;37938771;37958966", "class_list": "", "function": "Candidate Genes for IgA Nephropathy in Pediatric Patients: Exome-Wide Association Study. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin-protein ligase which is a component of the N-end rule pathway (By similarity). Does not bind to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation (By similarity). May play a role in Shh signaling by mediating the ubiquitination of Kif7 (By similarity). May be important for MYH9 function in certain tissues, possibly by regulating the ubiquitination of MYH9 and consequently affecting its interaction with MYO7A (PubMed:27331610)., [UniProtKB, UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The human E3 ubiquitin ligase UBR3 has a major activity that polyubiquitylates APE1 at multiple lysine residues clustered on the N-terminal tail. Erratum:[Nucleic Acids Res. 2026 Jan 14;54(2):gkag012. doi: 10.1093/nar/gkag012. PMID: 41533598], [RefSeq, PubMed]; UBR3 promotes inflammation and apoptosis via DUSP1/p38 pathway in the nucleus pulposus cells of patients with intervertebral disc degeneration., [RefSeq, PubMed]; UBR3/6 regulate cardiomyocyte Nav 1.5 channel protein levels via the ubiquitin-proteasome pathway., [RefSeq, PubMed]; Ubiquitin ligase protein which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation., [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": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DZR7;Q2KHN5;Q6ZR55;Q6ZSC2;Q8IVE7;Q8ND96", "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:0005737 cytoplasm;GO:0016020 membrane;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0009792 embryo development ending in birth or egg hatching;GO:1904878 negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel;GO:0001967 suckling behavior;GO:0016567 protein ubiquitination;GO:0045732 positive regulation of protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q6ZT12-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6P4I2-1", "uniprot_id": "WDR73_HUMAN", "mass": 41685.0, "length": 378, "protein_name": "Integrator complex assembly factor WDR73", "gene_name": "WDR73", "organism": "Human", "refseq_name": "integrator complex assembly factor WDR73", "refseq_ac": "NP_116245", "gene_names_uniprotkb": "WDR73; HSPC264", "gene_names_refseq": "GAMOS1; GAMOS; HSPC264; WDR73", "protein_names_uniprotkb": "Integrator complex assembly factor WDR73; WD repeat-containing protein 73", "protein_names_refseq": "FLJ00296 protein; WD repeat-containing protein 73; integrator complex assembly factor WDR73", "tax_id": 9606, "disease": "Galloway-Mowat syndrome 1 (Disease Ontology:DOID:0060364); Galloway-Mowat syndrome (Disease Ontology:DOID:0080694)", "pathway": " (hsa:84942)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;20112406;23301498;25466283;25576301;25645385;25873735;26070982;26123727;26758079;26992070;27001912;27920218;27983999;28218747;28649982;29242379;29437277;29557506;29929488;30315122;30315938;30429286;31217245;31844290;32157095;32357974;32387766;32938616;33298915;33592498;33686175;33912179;33968037;34171305;35051231;36284347;39032489;39894887", "class_list": "", "function": "A new homozygous missense mutation was identified in two siblings with Galloway-Mowat syndrome., [RefSeq, PubMed]; Component of a multiprotein complex required for the assembly of the RNA endonuclease module of the integrator complex (PubMed:39032489). Associates with INTS9 and INTS11 in the cytoplasm, stabilizing the INTS9-INTS11 heterodimer and blocking the active site of INTS11 (PubMed:39032489). BRAT1 then joins the complex and plugs the active site of INTS11, leading to WDR73 release and nuclear import of INTS9 and INTS11 (PubMed:39032489)., [UniProtKB, PubMed]; Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations. Publication Status: Online-Only, [RefSeq, PubMed]; Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome, [RefSeq, PubMed]; The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]., [RefSeq]; WDR73 as a candidate gene of severe intellectual disability and cerebellar hypoplasia., [RefSeq, PubMed]; WDR73 interacts with mitotic microtubules to regulate cell cycle progression, proliferation and survival in brain, [RefSeq, PubMed]; WDR73 plays a crucial role in the maintenance of cell architecture and cell survival., [RefSeq, PubMed]; We document postnatal onset of CA, a retinopathy, basal ganglia degeneration, and short stature as novel features of WDR73-related disease, and define WDR73-related disease as a new entity of infantile neurodegeneration., [RefSeq, PubMed]; We expanded the clinical phenotype of GMS with WDR73 gene defect to include retinal dysfunction with missense mutation and developmental dysplasia of the hip. 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": 0, "reported_mutagensis": 1, "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": "Q96JZ1;Q9P0B7", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005737 cytoplasm;GO:0032154 cleavage furrow", "go_biological_process": "GO:0006997 nucleus organization;GO:0031122 cytoplasmic microtubule organization", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q6P4I2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94782-1", "uniprot_id": "UBP1_HUMAN", "mass": 88207.0, "length": 785, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 1", "gene_name": "USP1", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 1", "refseq_ac": "NP_001017415", "gene_names_uniprotkb": "USP1", "gene_names_refseq": "UBP; USP1", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 1; 3.4.19.12; Deubiquitinating enzyme 1; Ubiquitin thioesterase 1; Ubiquitin-specific-processing protease 1; hUBP", "protein_names_refseq": "Ubiquitinyl hydrolase 1, Ubiquitin carboxyl-terminal hydrolase 1, ubiquitin thiolesterase 1; deubiquitinating enzyme 1; hUBP; ubiquitin carboxyl-terminal hydrolase 1; ubiquitin specific processing protease 1; ubiquitin specific protease 1; ubiquitin thioesterase 1; ubiquitin thiolesterase 1", "tax_id": 9606, "disease": "Fanconi anemia (Disease Ontology:DOID:13636)", "pathway": " (hsa:7398); (R-HSA-110314); (R-HSA-6783310)", "pathway_count": 3, "publication_count": 146, "publication_id_list": "11230166;11237011;11239454;12226657;15572677;15694335;15916957;16531995;16916645;16943440;17289582;17322306;17412408;17460694;17525332;17720710;17924679;17938197;18082604;18174376;18342608;18452278;18669648;18931676;19111657;19413330;19561358;19589784;19596236;19651622;19995904;20068231;20102227;20129063;20147293;20347428;20347429;20385554;20603015;20603016;20603073;20670894;20671156;21406692;21464321;21701511;21764741;22258451;22287633;22396592;22424782;22510687;22645359;22692201;23000965;23116119;23186163;23325218;23481700;23698467;23723247;24076221;24366607;24389026;24623813;24714562;24715725;24726325;24768535;24905007;25430771;25500724;25576301;25744535;25892735;26154972;26388029;26728094;26992070;27600516;27846572;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29769354;29775578;29786170;30429286;30484775;30524438;30526872;30779550;31086816;31154438;31217245;31530632;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;35051231;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37909373;38054892;38180818;38309505;39445487;39894887;9806842", "class_list": "", "function": "A genome-wide CRISPR screen identifies USP1 as a novel regulator of the mammalian circadian clock., [RefSeq, PubMed]; Mechanism of HOXA10 in nasopharyngeal carcinoma cell proliferation through the PTPRG-AS1/USP1 axis., [RefSeq, PubMed]; Negative regulator of DNA damage repair which specifically deubiquitinates monoubiquitinated FANCD2 (PubMed:15694335). Also involved in PCNA-mediated translesion synthesis (TLS) by deubiquitinating monoubiquitinated PCNA (PubMed:16531995, PubMed:20147293). Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity (PubMed:18082604, PubMed:26388029)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The P53-P21-RB1 pathway promotes BRD4 degradation in liver cancer through USP1., [RefSeq, PubMed]; The UAF1-USP1 Deubiquitinase Complex Stabilizes cGAS and Facilitates Antiviral Responses., [RefSeq, PubMed]; This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; USP1 deubiquitinates FANCD2 protein when cells exit S phase or recommence cycling after a DNA damage insult and may play a critical role in the Fanconi anemia pathway by recycling FANCD2., [RefSeq, PubMed]; USP1-dependent nucleolytic expansion of PRIMPOL-generated nascent DNA strand discontinuities during replication stress., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 3, "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": "A0PJ95;D3DQ57;Q05BX7;Q59H66;Q9UFR0;Q9UNJ3", "ec_number_list": "3.4.19.12;3.5.2.6;3.6.4.13;3.1.-.-;3.1.22.-;2.3.2.27;3.1.21.-;3.1.4.1", "go_molecular_function": "GO:0008233 peptidase activity;GO:0004197 cysteine-type endopeptidase activity;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006281 DNA repair;GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability;GO:0009411 response to UV", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "O94782-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q32P41-1", "uniprot_id": "TRM5_HUMAN", "mass": 58256.0, "length": 509, "protein_name": "tRNA (guanine(37)-N(1))-methyltransferase", "gene_name": "TRMT5", "organism": "Human", "refseq_name": "tRNA (guanine(37)-N(1))-methyltransferase isoform 3", "refseq_ac": "NP_065861", "gene_names_uniprotkb": "TRMT5; KIAA1393; TRM5", "gene_names_refseq": "COXPD26; KIAA1393; PNSED; TRM5; TRMT5", "protein_names_uniprotkb": "tRNA (guanine(37)-N(1))-methyltransferase; 2.1.1.228; M1G-methyltransferase; tRNA [GM37] methyltransferase; tRNA methyltransferase 5 homolog", "protein_names_refseq": "M1G-methyltransferase; TRM5 tRNA methyltransferase 5 homolog; tRNA (guanine(37)-N(1))-methyltransferase isoform 3; tRNA (guanine(37)-N(1))-methyltransferase; tRNA (guanine(37)-N1)-methyltransferase; tRNA (guanine-N(1)-)-methyltransferase; tRNA [GM37] methyltransferase; tRNA-N1G37 methyltransferase", "tax_id": 9606, "disease": "mitochondrial complex I deficiency (Disease Ontology:DOID:0060536); mitochondrial complex III deficiency (Disease Ontology:DOID:0111139); combined oxidative phosphorylation deficiency 26 (Disease Ontology:DOID:0111490); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); hypercalcemia (Disease Ontology:DOID:12678); lactic acidosis (Disease Ontology:DOID:3650); cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762); mitochondrial myopathy (Disease Ontology:DOID:699)", "pathway": " (hsa:57570); (R-HSA-6782861)", "pathway_count": 2, "publication_count": 15, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15248782;20739293;20972222;22761755;23481700;23887145;25418920;26189817;31530632;31848261;32161166;35342985;40914422", "class_list": "", "function": "A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy., [RefSeq, PubMed]; Comparison of human TRM5 and E Coli TrmD activities, requirements for optimal activity, and tRNA methylation sites, [RefSeq, PubMed]; Conservation of structure and mechanism by Trm5 enzymes, [RefSeq, PubMed]; Involved in mitochondrial tRNA methylation (PubMed:26189817). Specifically methylates the N1 position of guanosine-37 in various tRNAs. Methylation is not dependent on the nature of the nucleoside 5' of the target nucleoside. This is the first step in the biosynthesis of wybutosine (yW), a modified base adjacent to the anticodon of tRNAs and required for accurate decoding., [UniProtKB, PubMed]; TRMT5 mutations cause a defect in post-transcriptional modification of mitochondrial tRNA associated with multiple respiratory-chain deficiencies., [RefSeq, PubMed]; tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-adenosyl methionine (Brule et al., 2004 [PubMed 15248782]).[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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RN19;Q9P2F4", "ec_number_list": "2.1.1.228", "go_molecular_function": "GO:0008175 tRNA methyltransferase activity;GO:0052906 tRNA (guanine(37)-N1)-methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0002939 tRNA N1-guanine methylation;GO:0070901 mitochondrial tRNA methylation", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q32P41-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96QT4-1", "uniprot_id": "TRPM7_HUMAN", "mass": 212697.0, "length": 1865, "protein_name": "Transient receptor potential cation channel subfamily M member 7", "gene_name": "TRPM7", "organism": "Human", "refseq_name": "transient receptor potential cation channel subfamily M member 7 isoform b", "refseq_ac": "NP_001288141", "gene_names_uniprotkb": "TRPM7; CHAK1; LTRPC7", "gene_names_refseq": "ALSPDC; CHAK1; CHAK; LTRPC7; LTrpC-7; TRP-PLIK; TRPM7", "protein_names_uniprotkb": "Transient receptor potential cation channel subfamily M member 7; 2.7.11.1; Channel-kinase 1; LTrpC-7; LTrpC7; Long transient receptor potential channel 7", "protein_names_refseq": "LTRPC ion channel family member 7; channel-kinase 1; long transient receptor potential channel 7; transient receptor potential cation channel subfamily M member 7 isoform b; transient receptor potential-phospholipase C-interacting kinase", "tax_id": 9606, "disease": "sinoatrial node disease (Disease Ontology:DOID:0050824); MASA syndrome (Disease Ontology:DOID:0060246); chromosome 15q13.3 microdeletion syndrome (Disease Ontology:DOID:0060394); amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 (Disease Ontology:DOID:0111246)", "pathway": " (hsa:54822); (R-HSA-3295583)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "11050376;11226139;11237011;11243859;11301059;11385574;12015988;12887921;1422598;14594813;14634208;14976260;15485879;15781465;16051700;16636202;17081983;17344846;18365021;18394644;18669648;19413330;19664994;20025796;20068231;20716668;21280599;23186163;24316671;24715725;25389312;25418920;25765567;25855297;25880248;25892735;26811146;26992070;27600516;27846572;27920218;28218747;28220887;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;29769354;29786170;30315122;30338939;30410026;30484775;30524438;31092671;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33537174;33691108;33717175;33912179;33968037;34171305;34357683;34433824;34509645;34932366;35051231;35154160;35251023;35561741;35580925;36027648;36581221;38443846;38581988;38677534", "class_list": "", "function": "Bifunctional protein that combines an ion channel with an intrinsic kinase domain, enabling it to modulate cellular functions either by conducting ions through the pore or by phosphorylating downstream proteins via its kinase domain. The channel is highly permeable to divalent cations, specifically calcium (Ca2+), magnesium (Mg2+) and zinc (Zn2+) and mediates their influx (PubMed:11385574, PubMed:12887921, PubMed:15485879, PubMed:24316671, PubMed:35561741, PubMed:36027648). Controls a wide range of biological processes such as Ca2(+), Mg(2+) and Zn(2+) homeostasis, vesicular Zn(2+) release channel and intracellular Ca(2+) signaling, embryonic development, immune responses, cell motility, proliferation and differentiation (By similarity). The C-terminal alpha-kinase domain autophosphorylates cytoplasmic residues of TRPM7 (PubMed:18365021). In vivo, TRPM7 phosphorylates SMAD2, suggesting that TRPM7 kinase may play a role in activating SMAD signaling pathways. In vitro, TRPM7 kinase phosphorylates ANXA1 (annexin A1), myosin II isoforms and a variety of proteins with diverse cellular functions (PubMed:15485879, PubMed:18394644)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Hypoxia-induced TRPM7 promotes glycolytic metabolism and progression in hepatocellular carcinoma., [RefSeq, PubMed]; Knockdown of circ-Gatad1 alleviates LPS induced HK2 cell injury via targeting miR-22-3p/TRPM7 axis in septic acute kidney. Erratum:[BMC Nephrol. 2024 Apr 25;25(1):147. doi: 10.1186/s12882-024-03580-4. PMID: 38664673] Publication Status: Online-Only, [RefSeq, PubMed]; Only Mg(2+) can directly modulate TRPM7/ChaK1 kinase activity in vivo, [RefSeq, PubMed]; TRPM7 facilitates fibroblast-like synoviocyte proliferation, metastasis and inflammation through increasing IL-6 stability via the PKCalpha-HuR axis in rheumatoid arthritis., [RefSeq, PubMed]; The C-terminal kinase domain can be cleaved from the channel segment in a cell-type-specific fashion. In immune cells, the TRPM7 kinase domain is clipped from the channel domain by caspases in response to Fas-receptor stimulation. The cleaved kinase fragments can translocate to the nucleus, and bind chromatin-remodeling complex proteins in a Zn(2+)-dependent manner to ultimately phosphorylate specific Ser/Thr residues of histones known to be functionally important for cell differentiation and embryonic development., [UniProtKB, UniProtKB]; The cleaved channel exhibits substantially higher current and potentiates Fas receptor signaling., [UniProtKB, UniProtKB]; This gene belongs to the melastatin subfamily of transient receptor potential family of ion channels. The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. The encoded protein is involved in cytoskeletal organization, cell adhesion, cell migration and organogenesis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. The gene may also be associated with defects of cardiac function. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 56, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 9, "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": "Q6ZMF5;Q86VJ4;Q8NBW2;Q9BXB2;Q9NXQ2", "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:0005385 zinc ion transmembrane transporter activity;GO:0003779 actin binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005262 calcium channel activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0030659 cytoplasmic vesicle membrane;GO:0031410 cytoplasmic vesicle;GO:0001726 ruffle", "go_biological_process": "GO:0015693 magnesium ion transport;GO:0006829 zinc ion transport;GO:0051289 protein homotetramerization;GO:0006816 calcium ion transport;GO:0098655 monoatomic cation transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q96QT4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "D6RCP7-1", "uniprot_id": "U17LJ_HUMAN", "mass": 59658.0, "length": 530, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 19", "gene_name": "USP17L19", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 17-like protein 19", "refseq_ac": "NP_001243789", "gene_names_uniprotkb": "USP17L19", "gene_names_refseq": "USP17L19", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 19; 3.4.19.12", "protein_names_refseq": "ubiquitin carboxyl-terminal hydrolase 17-like protein 19", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:100287404); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10444327;10982817;11566882;11923872;12917689;12917691;14661020;15053880;15916963;16214042;16901786;16964248;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24896179;25197364;25305019;25578727;7578059", "class_list": "", "function": "Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "3.4.19.12;3.6.4.13;3.1.3.48;3.4.26.1", "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "D6RCP7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86VR7-1", "uniprot_id": "VS10L_HUMAN", "mass": 91625.0, "length": 867, "protein_name": "V-set and immunoglobulin domain-containing protein 10-like", "gene_name": "VSIG10L", "organism": "Human", "refseq_name": "V-set and immunoglobulin domain-containing protein 10-like precursor", "refseq_ac": "NP_001157394", "gene_names_uniprotkb": "VSIG10L", "gene_names_refseq": "VSIG10L", "protein_names_uniprotkb": "V-set and immunoglobulin domain-containing protein 10-like; VSIG10-like protein", "protein_names_refseq": "V-set and immunoglobulin domain-containing protein 10-like precursor; V-set and immunoglobulin domain-containing protein 10-like; VSIG10-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:147645)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "23090970;24190977;25645385;27467440;28254787;29237092;29351928;29493099;29557506;30833945;31154438;32502341;33141586;33298915;33392160;34171305;34211107;35051231", "class_list": "", "function": "VSIG10L is a candidate familial Barrett esophagus susceptibility gene, with a putative role in maintaining normal esophageal homeostasis., [RefSeq, PubMed]", "predicted_glycosites": 9, "predicted_n_glycosites": 7, "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": 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": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 12, "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": 2.3, "record_id": "Q86VR7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86UV6-1", "uniprot_id": "TRI74_HUMAN", "mass": 28547.0, "length": 250, "protein_name": "Tripartite motif-containing protein 74", "gene_name": "TRIM74", "organism": "Human", "refseq_name": "tripartite motif-containing protein 74", "refseq_ac": "NP_001304744", "gene_names_uniprotkb": "TRIM74; TRIM50C", "gene_names_refseq": "TRIM50C; TRIM74", "protein_names_uniprotkb": "Tripartite motif-containing protein 74; Tripartite motif-containing protein 50C", "protein_names_refseq": "tripartite motif-containing 50C; tripartite motif-containing protein 50C; tripartite motif-containing protein 74", "tax_id": 9606, "disease": "", "pathway": " (hsa:378108)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "18398435;23481700", "class_list": "", "function": "Maps within the critical region of Williams-Beuren syndrome., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B7WP46", "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", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q86UV6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3MJ62-1", "uniprot_id": "ZSC23_HUMAN", "mass": 44955.0, "length": 389, "protein_name": "Zinc finger and SCAN domain-containing protein 23", "gene_name": "ZSCAN23", "organism": "Human", "refseq_name": "zinc finger and SCAN domain-containing protein 23", "refseq_ac": "NP_001012458", "gene_names_uniprotkb": "ZSCAN23; ZNF390; ZNF453", "gene_names_refseq": "ZNF390; ZNF453; ZSCAN23; dJ29K1.3.1; dJ29K1.3", "protein_names_uniprotkb": "Zinc finger and SCAN domain-containing protein 23; Zinc finger protein 390; Zinc finger protein 453", "protein_names_refseq": "zinc finger and SCAN domain-containing protein 23; zinc finger protein 390; zinc finger protein 453", "tax_id": 9606, "disease": "", "pathway": " (hsa:222696)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;24714562;31844290;32938616;33298915;38226836", "class_list": "", "function": "Epigenetic silencing ZSCAN23 promotes pancreatic cancer growth by activating Wnt signaling., [RefSeq, PubMed]; 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q96KV9", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_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": "Q3MJ62-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZJ3-1", "uniprot_id": "TRYD_HUMAN", "mass": 26584.0, "length": 242, "protein_name": "Tryptase delta", "gene_name": "TPSD1", "organism": "Human", "refseq_name": "tryptase delta precursor", "refseq_ac": "NP_036349", "gene_names_uniprotkb": "TPSD1", "gene_names_refseq": "MCP7-LIKE; MCP7L1; MMCP-7L; TPSD1", "protein_names_uniprotkb": "Tryptase delta; 3.4.21.59; Delta-tryptase; HmMCP-3-like tryptase III; Mast cell mMCP-7-like; Tryptase-3", "protein_names_refseq": "delta-tryptase; hmMCP-3-like tryptase III; mMCP-7-like delta II tryptase; mMCP-7-like-1; mMCP-7-like-2; mast cell tryptase; tryptase delta precursor; tryptase-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:23430)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11174199;11237011;12391231;18854315;37511292;9920877", "class_list": "", "function": "Increase in TPSB2 and TPSD1 Expression in Synovium of Hip Osteoarthritis Patients Who Are Overweight. Publication Status: Online-Only, [RefSeq, PubMed]; Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type., [UniProtKB]; Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. Although this gene may be an exception, most of the tryptase genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. This gene was once considered to be a pseudogene, although it is now believed to be a functional gene that encodes a protein. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "O95824;Q8TDI6;Q96L36;Q96RZ5;Q9H2Y6;Q9UQI8", "ec_number_list": "", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9BZJ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P19971-1", "uniprot_id": "TYPH_HUMAN", "mass": 49955.0, "length": 482, "protein_name": "Thymidine phosphorylase", "gene_name": "TYMP", "organism": "Human", "refseq_name": "thymidine phosphorylase isoform 1 precursor", "refseq_ac": "NP_001107227", "gene_names_uniprotkb": "TYMP; ECGF1", "gene_names_refseq": "ECGF1; ECGF; MEDPS1; MNGIE; MTDPS1; PDECGF; TP; TYMP; hPD-ECGF", "protein_names_uniprotkb": "Thymidine phosphorylase; 2.4.2.4; Gliostatin; PD-ECGF; Platelet-derived endothelial cell growth factor; TP; TdRPase", "protein_names_refseq": "gliostatin; tdRPase; thymidine phosphorylase isoform 1 precursor", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); mitochondrial DNA depletion syndrome (Disease Ontology:DOID:0070329); mitochondrial DNA depletion syndrome 1 (Disease Ontology:DOID:0080119); urinary bladder cancer (Disease Ontology:DOID:11054); endometrial cancer (Disease Ontology:DOID:1380); glaucoma (Disease Ontology:DOID:1686); pancreatic cancer (Disease Ontology:DOID:1793); transient cerebral ischemia (Disease Ontology:DOID:224); ovarian cancer (Disease Ontology:DOID:2394); transitional cell carcinoma (Disease Ontology:DOID:2671); teratoma (Disease Ontology:DOID:3307); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); cervical squamous cell carcinoma (Disease Ontology:DOID:3744); lung non-small cell carcinoma (Disease Ontology:DOID:3908); seminoma (Disease Ontology:DOID:4440); renal cell carcinoma (Disease Ontology:DOID:4450); common bile duct neoplasm (Disease Ontology:DOID:4608); gallbladder carcinoma (Disease Ontology:DOID:4948); mitochondrial encephalomyopathy (Disease Ontology:DOID:890)", "pathway": " (hsa:1890); (R-HSA-73614); (R-HSA-73621)", "pathway_count": 3, "publication_count": 104, "publication_id_list": "10364222;1063125;10681516;10899995;10989446;11083867;11133996;11237011;11306702;12124385;12177387;12199906;12352955;12429345;12808445;12849978;12947102;1400349;1406603;14609716;14725767;15130468;15385443;15689149;1570012;15733844;1580101;1590793;1597187;16377327;16803458;18477386;19291308;19555658;195585;1996353;20018850;20068231;2026611;20722631;2129526;2157703;2344353;23576270;2467210;2539852;2542307;2548513;26375851;27452731;27600516;27862975;28228285;2826576;2844225;28832583;28904123;29242379;29557506;29786170;30779550;30833945;31154438;31844290;31848261;32157095;32350084;32488085;32938616;32983136;33043033;33298915;3335503;33392160;33592498;3372530;33825174;33968037;33981976;34171305;35051231;35154160;35318648;35341481;35567733;35580925;36010968;36215666;36241641;36284347;37603049;38043946;38253038;40596516;40914422;7284378;7488099;7923172;8083224;8340387;9718352;9804782;9924029;9989599", "class_list": "", "function": "Catalyzes the reversible phosphorolysis of thymidine. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Distinctive metabolic remodeling in TYMP deficiency beyond mitochondrial dysfunction., [RefSeq, PubMed]; Identifying TYMP as an Immune Prognostic Marker in Clear Cell Renal Cell Carcinoma., [RefSeq, PubMed]; Impact of thymidine phosphorylase and CD163 expression on prognosis in stage II colorectal cancer., [RefSeq, PubMed]; Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; May have a role in maintaining the integrity of the blood vessels. Has growth promoting activity on endothelial cells, angiogenic activity in vivo and chemotactic activity on endothelial cells in vitro., [UniProtKB, PubMed]; Novel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review. Review article, [RefSeq, PubMed]; This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 19, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MW15;H9KVA0;Q13390;Q8WVB7", "ec_number_list": "2.4.2.4", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0008083 growth factor activity;GO:0004645 1,4-alpha-oligoglucan phosphorylase activity;GO:0009032 thymidine phosphorylase activity;GO:0016763 pentosyltransferase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0001525 angiogenesis;GO:0006935 chemotaxis;GO:0030154 cell differentiation;GO:0006213 pyrimidine nucleoside metabolic process;GO:0006206 pyrimidine nucleobase metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "P19971-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NE52-1", "uniprot_id": "WDR97_HUMAN", "mass": 180307.0, "length": 1622, "protein_name": "WD repeat-containing protein 97", "gene_name": "WDR97", "organism": "Human", "refseq_name": "WD repeat-containing protein 97", "refseq_ac": "NP_001303238", "gene_names_uniprotkb": "WDR97; KIAA1875", "gene_names_refseq": "KIAA1875; WDR97", "protein_names_uniprotkb": "WD repeat-containing protein 97", "protein_names_refseq": "WD repeat-containing protein 97", "tax_id": 9606, "disease": "", "pathway": " (hsa:340390)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;24715725;25892735;27920218;28218747;29437277;29769354;32161166;35051231;35494241;36215666", "class_list": "", "function": "The function and protein-coding potential of this gene is unknown. The exon combination is based on AB058778.1 for which two possible open reading frames can be predicted (with start codons at nucleotide 26 or 2614). The position of the first ORF stop codon is consistent with a prediction of nonsense-mediated decay. Given the observation of the first ORF and its length, a predicted translation of the second ORF is inconsistent with the translation leaky scanning theory. Therefore, this gene is represented as a non-protein-coding transcript. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q96JF2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "A6NE52-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P55916-1", "uniprot_id": "UCP3_HUMAN", "mass": 34216.0, "length": 312, "protein_name": "Putative mitochondrial transporter UCP3", "gene_name": "UCP3", "organism": "Human", "refseq_name": "putative mitochondrial transporter UCP3 isoform UCP3L", "refseq_ac": "NP_003347", "gene_names_uniprotkb": "UCP3; SLC25A9", "gene_names_refseq": "SLC25A9; UCP3", "protein_names_uniprotkb": "Putative mitochondrial transporter UCP3; Solute carrier family 25 member 9; UCP 3; Uncoupling protein-3", "protein_names_refseq": "mitochondrial uncoupling protein 3; putative mitochondrial transporter UCP3 isoform UCP3L; putative mitochondrial transporter UCP3; solute carrier family 25 member 9; uncoupling protein 3 (mitochondrial, proton carrier)", "tax_id": 9606, "disease": "hypocholesteremia (Disease Ontology:DOID:0061212); hypertension (Disease Ontology:DOID:10763); prediabetes syndrome (Disease Ontology:DOID:11716); hypothyroidism (Disease Ontology:DOID:1459); coronary restenosis (Disease Ontology:DOID:4247); congestive heart failure (Disease Ontology:DOID:6000); hyperthyroidism (Disease Ontology:DOID:7998); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); diabetic neuropathy (Disease Ontology:DOID:9743); obesity (Disease Ontology:DOID:9970); hypoglycemia (Disease Ontology:DOID:9993)", "pathway": " (hsa:7352); (R-HSA-167826)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10958796;11171965;11237011;11707458;11709078;12670931;12734183;21775425;26915802;29242379;29493099;30379171;32157095;36114012;36140780;36651711;36810017;38058167;8576230;8626410;9180264;9196039;9305858;9325252;9498661;9769326", "class_list": "", "function": "Expressions of mRNA and encoded proteins of mitochondrial uncoupling protein genes (UCP1, UCP2, and UCP3) in epicardial and mediastinal adipose tissue and associations with coronary artery disease., [RefSeq, PubMed]; Human mitochondrial uncoupling protein 3 functions as a metabolite transporter., [RefSeq, PubMed]; Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. The different UCPs have tissue-specific expression; this gene is primarily expressed in skeletal muscle. This gene's protein product is postulated to protect mitochondria against lipid-induced oxidative stress. Expression levels of this gene increase when fatty acid supplies to mitochondria exceed their oxidation capacity and the protein enables the export of fatty acids from mitochondria. UCPs contain the three solcar protein domains typically found in MACPs. Two splice variants have been found for this gene.[provided by RefSeq, Nov 2008]., [RefSeq]; Putative transmembrane transporter that plays a role in mitochondrial metabolism via an as yet unclear mechanism (PubMed:21775425, PubMed:36114012). Originally, this mitochondrial protein was thought to act as a proton transmembrane transporter from the mitochondrial intermembrane space into the matrix, causing proton leaks through the inner mitochondrial membrane, thereby uncoupling mitochondrial membrane potential generation from ATP synthesis (PubMed:11171965, PubMed:12670931, PubMed:12734183, PubMed:9305858). However, this function is controversial and uncoupling may not be the function, or at least not the main function, but rather a consequence of more conventional metabolite transporter activity (PubMed:11707458)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Relationships between Uncoupling Protein Genes UCP1, UCP2 and UCP3 and Irisin Levels in Residents of the Coldest Region of Siberia. Publication Status: Online-Only, [RefSeq, PubMed]; The influence of six polymorphisms of uncoupling protein 3 (UCP3) gene and childhood obesity: a case-control study. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O60475;Q96HL3", "ec_number_list": "", "go_molecular_function": "GO:0015078 proton transmembrane transporter activity;GO:0017077 oxidative phosphorylation uncoupler activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane", "go_biological_process": "GO:1901373 lipid hydroperoxide transport;GO:0000303 response to superoxide;GO:0006629 lipid metabolic process;GO:0007584 response to nutrient;GO:0009409 response to cold", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "P55916-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N4H5-1", "uniprot_id": "TOM5_HUMAN", "mass": 6035.0, "length": 51, "protein_name": "Mitochondrial import receptor subunit TOM5 homolog", "gene_name": "TOMM5", "organism": "Human", "refseq_name": "mitochondrial import receptor subunit TOM5 homolog isoform 1", "refseq_ac": "NP_001001790", "gene_names_uniprotkb": "TOMM5; C9orf105; TOM5", "gene_names_refseq": "C9orf105; TOMM5; Tom5; bA613M10.3", "protein_names_uniprotkb": "Mitochondrial import receptor subunit TOM5 homolog", "protein_names_refseq": "mitochondrial import receptor subunit TOM5 homolog isoform 1; mitochondrial import receptor subunit TOM5 homolog; mitochondrial outer membrane protein TOM5; translocase of outer mitochondrial membrane 5 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:401505); (R-HSA-1268020); (R-HSA-5205685)", "pathway_count": 3, "publication_count": 132, "publication_id_list": "11237011;14726512;15254020;15644312;15683237;16185709;16849325;17308301;17510655;18174896;18331822;18678864;19409522;19432818;19453276;19767391;19962426;20126261;20593814;20712405;21115803;21194381;21617041;21750375;22299025;23041349;23481700;23597483;23783831;23811401;24366607;24660806;24714562;24715725;24751536;24784582;25315652;25418920;25469497;25474007;25505266;25527497;25576301;25645385;25810538;26116755;26154972;26365381;26375851;26697887;26728094;26811146;26929215;26992070;27035970;27247382;27600516;27726376;27846572;27862975;27920218;28063628;28218747;28228285;28467828;28510447;28832583;28834231;28855257;28904123;29242379;29393594;29394115;29437277;29493099;29508533;29557506;29632046;29786170;29789417;29995846;30315122;30410026;30429286;30484775;30524438;30833945;31154438;31217245;31222486;31844290;31848261;31998317;32157095;32161166;32265295;32296703;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33691108;33717175;33912179;33936100;33968037;34171305;34185709;34211107;34357683;34509645;34561969;34932366;35051231;35154160;35251023;35318648;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38287189;40080546", "class_list": "", "function": "Component of the translocase of the outer membrane of mitochondria (TOM) complex essential for the recognition and translocation of cytosolically synthesized mitochondrial preproteins (PubMed:40080546). The TOM complex associates with the ion channel VDAC2 and PINK1 kinase at depolarized mitochondria, this interaction stabilizes PINK1 at the outer mitochondrial membrane and triggers downstream mitophagy by the recruitment of the E3 ubiquitin ligase PRKN (PubMed:40080546)., [UniProtKB, PubMed]; The human counterparts of Tom5 and Tom6, together with the other components including Tom7, were identified in the preprotein translocase 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2DG07;F6S928;Q5JRT7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005742 mitochondrial outer membrane translocase complex", "go_biological_process": "GO:0045040 protein insertion into mitochondrial outer membrane;GO:0015031 protein transport;GO:0006626 protein targeting to mitochondrion", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "Q8N4H5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61960-1", "uniprot_id": "UFM1_HUMAN", "mass": 9118.0, "length": 85, "protein_name": "Ubiquitin-fold modifier 1", "gene_name": "UFM1", "organism": "Human", "refseq_name": "ubiquitin-fold modifier 1 isoform 2", "refseq_ac": "NP_001273632", "gene_names_uniprotkb": "UFM1; BM-002; C13orf20", "gene_names_refseq": "BM-002; C13orf20; HLD14; UFM1", "protein_names_uniprotkb": "Ubiquitin-fold modifier 1", "protein_names_refseq": "ubiquitin-fold modifier 1 isoform 2", "tax_id": 9606, "disease": "autosomal recessive cerebellar ataxia (Disease Ontology:DOID:0050950); hypomyelinating leukodystrophy 14 (Disease Ontology:DOID:0080296)", "pathway": " (hsa:51569)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "11237011;15071506;16344560;16527251;20018847;23152784;25219498;26872069;26929408;27653677;28228285;28360427;28510447;28514659;28904123;28931644;29242379;29295865;29331515;29557506;29868776;30412706;30429286;30626607;30626644;30779550;30833945;31020640;31154438;31844290;31998317;32157095;32160526;32350084;32357974;32488085;32983136;33592498;33912179;33968037;33981976;34211107;34357683;35154160;35318648;35525273;35580925;35926457;36241641;36284347;36344165;36543379;37595036;37980168;38377992;38383785;38665916", "class_list": "", "function": "A novel type of E3 ligase for the Ufm1 conjugation system., [RefSeq, PubMed]; Emerging role of protein modification by UFM1 in cancer. Review article, [RefSeq, PubMed]; Inhibition of UFM1 expression suppresses cancer progression and is linked to the dismal prognosis and immune infiltration in oral squamous cell carcinoma., [RefSeq, PubMed]; Mechanistic insights into the roles of the UFM1 E3 ligase complex in ufmylation and ribosome-associated protein quality control., [RefSeq, PubMed]; Modification of PLAC8 by UFM1 affects tumorous proliferation and immune response by impacting PD-L1 levels in triple-negative breast cancer., [RefSeq, PubMed]; The solution structure and dynamics of human Ufm1 (hsUfm1) by nuclear magnetic resonance spectroscopy was analysed., [RefSeq, PubMed]; UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008]., [RefSeq]; Ubiquitin-like modifier which can be covalently attached via an isopeptide bond to lysine residues of substrate proteins as a monomer or a lysine-linked polymer (PubMed:15071506, PubMed:20018847, PubMed:27653677, PubMed:29868776, PubMed:30626644, PubMed:38377992, PubMed:38383785). The so-called ufmylation, requires the UFM1-activating E1 enzyme UBA5, the UFM1-conjugating E2 enzyme UFC1, and the UFM1-ligase E3 enzyme UFL1 (PubMed:15071506, PubMed:20018847, PubMed:27653677, PubMed:29868776). Ufmylation is involved in various processes, such as ribosome recycling, response to DNA damage, transcription or reticulophagy (also called ER-phagy) induced in response to endoplasmic reticulum stress (PubMed:25219498, PubMed:32160526, PubMed:38383785)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q14346;Q5VXS0;Q6IAG6;Q9CPX2;Q9NZF2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0007420 brain development;GO:0042308 negative regulation of protein import into nucleus;GO:0034976 response to endoplasmic reticulum stress;GO:0071569 protein ufmylation", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P61960-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IYU4-1", "uniprot_id": "UBQLN_HUMAN", "mass": 52897.0, "length": 475, "protein_name": "Ubiquilin-like protein", "gene_name": "UBQLNL", "organism": "Human", "refseq_name": "ubiquilin-like protein", "refseq_ac": "NP_659490", "gene_names_uniprotkb": "UBQLNL", "gene_names_refseq": "UBQLNL", "protein_names_uniprotkb": "Ubiquilin-like protein", "protein_names_refseq": "ubiquilin-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:143630)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;18452278;24714562", "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": 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": "Q6ZRU1;Q96EK3;Q96MB0", "ec_number_list": "", "go_molecular_function": "GO:0031593 polyubiquitin modification-dependent protein binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8IYU4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HBA0-1", "uniprot_id": "TRPV4_HUMAN", "mass": 98281.0, "length": 871, "protein_name": "Transient receptor potential cation channel subfamily V member 4", "gene_name": "TRPV4", "organism": "Human", "refseq_name": "transient receptor potential cation channel subfamily V member 4 isoform e", "refseq_ac": "NP_001170899", "gene_names_uniprotkb": "TRPV4; VRL2; VROAC", "gene_names_refseq": "BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; TRPV4; VRL2; VROAC", "protein_names_uniprotkb": "Transient receptor potential cation channel subfamily V member 4; OTRPC4; Osm-9-like TRP channel 4; TRP12; Transient receptor potential protein 12; TrpV4; VR-OAC; VRL-2; Vanilloid receptor-like channel 2; Vanilloid receptor-like protein 2; Vanilloid receptor-related osmotically-activated channel", "protein_names_refseq": "OSM9-like transient receptor potential channel 4; osm-9-like TRP channel 4; osmosensitive transient receptor potential channel 4; transient receptor potential cation channel subfamily V member 4 isoform e; transient receptor potential protein 12; vanilloid receptor-like channel 2; vanilloid receptor-related osmotically activated channel", "tax_id": 9606, "disease": "brachyolmia (Disease Ontology:DOID:0050690); Charcot-Marie-Tooth disease axonal type 2C (Disease Ontology:DOID:0110182); autosomal dominant nonsyndromic deafness 25 (Disease Ontology:DOID:0110555); autosomal dominant distal hereditary motor neuronopathy 8 (Disease Ontology:DOID:0111215); metatropic dysplasia (Disease Ontology:DOID:0111514); parastremmatic dwarfism (Disease Ontology:DOID:0111539); scapuloperoneal spinal muscular atrophy (Disease Ontology:DOID:0111552); spondyloepiphyseal dysplasia Maroteaux type (Disease Ontology:DOID:0111553); spondylometaphyseal dysplasia Kozlowski type (Disease Ontology:DOID:0111554); osteonecrosis (Disease Ontology:DOID:10159); pulmonary hypertension (Disease Ontology:DOID:6432); familial digital arthropathy-brachydactyly (MONDO:MONDO:0011732); avascular necrosis of femoral head, primary, 2 (MONDO:MONDO:0054551)", "pathway": " (hsa:59341); (R-HSA-3295583); (R-HSA-9856530)", "pathway_count": 3, "publication_count": 86, "publication_id_list": "10.1101/2023.09.13.557529;10376603;10639123;10649434;10764742;11025659;11050376;11081638;11226139;11237011;11243859;11301059;11853546;11968001;12015988;12176338;12538589;12692122;12724311;1422598;14634208;15304325;15718470;16293632;16368742;16403833;16780920;16964243;18587396;18695040;18710921;18826956;19020623;19232556;19661060;19666518;19723632;19759329;20025796;20037586;20037587;20037588;20043876;20425821;20503319;20577006;20716668;21115951;21288981;21964574;22101010;22328087;22526352;22702953;23136043;23619744;25256292;25389312;25765567;25855297;25972993;26146187;26249260;27330106;27566546;27797339;29462784;29557506;29899501;30429286;31205027;31567350;31844290;32296767;33537292;34499618;34509645;35051231;35469044;38521959;38612378;38855909;39024979;7876172;8700127;9620797", "class_list": "", "function": "(Microbial infection) Facilitates Dengue virus (DENV) replication, possibly through its action on DDX3X., [UniProtKB, PubMed]; (Microbial infection) Facilitates Zika virus (ZIKV) replication, possibly through its action on DDX3X., [UniProtKB, PubMed]; (Microbial infection) Facilitates hepatitis C virus (HCV) replication, possibly through its action on DDX3X., [UniProtKB, PubMed]; Impact of TRP Channels on Extracellular Matrix Remodeling: Focus on TRPV4 and Collagen. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Inflammation-induced TRPV4 channels exacerbate blood-brain barrier dysfunction in multiple sclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; Lacks channel activity, due to impaired oligomerization and intracellular retention., [UniProtKB, PubMed]; Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity (PubMed:16293632, PubMed:18695040, PubMed:18826956, PubMed:22526352, PubMed:23136043, PubMed:29899501). Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification (PubMed:18695040, PubMed:18826956, PubMed:29899501). Also activated by heat, low pH, citrate and phorbol esters (PubMed:16293632, PubMed:18695040, PubMed:18826956, PubMed:20037586, PubMed:21964574, PubMed:25256292). Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism (PubMed:12724311, PubMed:18826956). Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the formation and/or maintenance of functional intercellular barriers (By similarity). Acts as a regulator of intracellular Ca(2+) in synoviocytes (PubMed:19759329). Plays an obligatory role as a molecular component in the nonselective cation channel activation induced by 4-alpha-phorbol 12,13-didecanoate and hypotonic stimulation in synoviocytes and also regulates production of IL-8 (PubMed:19759329). Together with PKD2, forms mechano- and thermosensitive channels in cilium (PubMed:18695040). Negatively regulates expression of PPARGC1A, UCP1, oxidative metabolism and respiration in adipocytes (By similarity). Regulates expression of chemokines and cytokines related to pro-inflammatory pathway in adipocytes (By similarity). Together with AQP5, controls regulatory volume decrease in salivary epithelial cells (By similarity). Required for normal development and maintenance of bone and cartilage (PubMed:26249260). In its inactive state, may sequester DDX3X at the plasma membrane. When activated, the interaction between both proteins is affected and DDX3X relocalizes to the nucleus (PubMed:29899501). In neurons of the central nervous system, could play a role in triggering voluntary water intake in response to increased sodium concentration in body fluid (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TRPV4 activation in human corneal epithelial cells promotes membrane mucin production., [RefSeq, PubMed]; TRPV4 mediates IL-1-induced Ca[2+] signaling, ERK activation and MMP expression., [RefSeq, PubMed]; This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 1, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 10, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B7ZKQ6;Q17R79;Q2Y122;Q2Y123;Q2Y124;Q86YZ6;Q8NDY7;Q8NG64;Q96Q92;Q96RS7;Q9HBC0", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0003779 actin binding;GO:0005262 calcium channel activity;GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0008017 microtubule binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0005925 focal adhesion;GO:0005929 cilium", "go_biological_process": "GO:0071476 cellular hypotonic response;GO:0046785 microtubule polymerization;GO:0031117 positive regulation of microtubule depolymerization;GO:0007231 osmosensory signaling pathway;GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9HBA0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HAW7-1", "uniprot_id": "UD17_HUMAN", "mass": 59819.0, "length": 530, "protein_name": "UDP-glucuronosyltransferase 1A7", "gene_name": "UGT1A7", "organism": "Human", "refseq_name": "UDP-glucuronosyltransferase 1A7 precursor", "refseq_ac": "NP_061950", "gene_names_uniprotkb": "UGT1A7; GNT1; UGT1", "gene_names_refseq": "UDPGT 1-7; UGT-1G; UGT1-07; UGT1.7; UGT1A7; UGT1G", "protein_names_uniprotkb": "UDP-glucuronosyltransferase 1A7; 2.4.1.17; UDP-glucuronosyltransferase 1-7; UDP-glucuronosyltransferase 1-G; UDPGT 1-7; UGT-1G; UGT1*7; UGT1-07; UGT1.7; UGT1A7; UGT1G", "protein_names_refseq": "UDP glucuronosyltransferase 1 family, polypeptide A7; UDP glycosyltransferase 1 family, polypeptide A7; UDP-glucuronosyltransferase 1 family polypeptide A7s; UDP-glucuronosyltransferase 1-7; UDP-glucuronosyltransferase 1-G; UDP-glucuronosyltransferase 1A7 precursor; UDP-glucuronosyltransferase 1A7", "tax_id": 9606, "disease": "pancreatic cancer (Disease Ontology:DOID:1793); alcoholic pancreatitis (Disease Ontology:DOID:4988); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:54577); (R-HSA-156588); (R-HSA-9749641)", "pathway_count": 3, "publication_count": 76, "publication_id_list": "10220572;10434065;11037804;11237011;11434514;11581266;11677206;12122597;12181437;12433823;12616642;12806614;1339448;13741103;14570768;14616765;15135306;15470161;16258079;1634050;1634606;16837570;16858120;1692835;16943252;17179145;17482904;1783992;18004212;18052085;18052087;18674515;18719240;19204906;19545173;19836360;20610558;21422672;22294686;22674043;23360619;25743847;25840124;25899702;26811146;27556486;28677105;29557506;29741879;30484775;3082969;31132973;33105931;3342084;34846842;36284347;3705620;38211441;4639028;5013373;5773090;5862532;6654901;6777177;6796486;6838677;7206363;7802672;7906695;8027054;8276413;8687483;9144407;9271343;931988;975718", "class_list": "glycogene;glycosyltransferase", "function": "High activity UGT1A7 genotype is associated with an increased risk for Warthin's tumor., [RefSeq, PubMed]; Increased UGT1A7 expression is associated with pancreatic cancer., [RefSeq, PubMed]; Lacks UGT glucuronidation activity but acts as a negative regulator of isoform 1., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has moderate glucuronidase activity with phenols. [provided by RefSeq, Jul 2008]., [RefSeq]; UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:12181437, PubMed:15470161, PubMed:18004212, PubMed:18052087, PubMed:18674515, PubMed:18719240, PubMed:20610558, PubMed:23360619, PubMed:21422672, PubMed:38211441). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:12181437, PubMed:18004212). Catalyzes the glucuronidation of endogenous estrogen hormone epiestradiol (PubMed:18719240). Involved in the glucuronidation of F2-isoprostane (5-epi-5-F2t-IsoP) (PubMed:38211441). Involved in the glucuronidation of the phytochemical ferulic acid at the carboxylic acid group (PubMed:21422672). Also catalyzes the glucuronidation of the isoflavones genistein, daidzein, glycitein, formononetin, biochanin A and prunetin, which are phytoestrogens with anticancer and cardiovascular properties (PubMed:18052087). Involved in the glucuronidation of the AGTR1 angiotensin receptor antagonist caderastan, a drug which can inhibit the effect of angiotensin II (PubMed:18674515). Involved in the biotransformation of 7-ethyl-10-hydroxycamptothecin (SN-38), the pharmacologically active metabolite of the anticancer drug irinotecan (PubMed:12181437, PubMed:18004212, PubMed:20610558, PubMed:23360619). Also metabolizes mycophenolate, an immunosuppressive agent (PubMed:15470161)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; We found that Circassians and Chechens have significantly higher allele frequencies of UGT1A7*2, UGT1A7*3 and UGT1A7*4 than the Jordanian-Arab population, but all three populations have similar frequencies of UGT1A1*28. Therefore, Circassians and Chechens are expected to have significantly lower levels of the UGT1A7 enzyme with almost 90% of these populations having genes that encode low or intermediate enzyme activity., [RefSeq, PubMed]; [Gene mutation pattern of Gilbert's syndrome combined with viral hepatitis and its relationship with the exploration of clinical data]., [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": 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": 712, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B8K293;O00473", "ec_number_list": "2.4.1.17;2.4.1.170;2.4.1.185", "go_molecular_function": "GO:0008194 UDP-glycosyltransferase activity;GO:0004857 enzyme inhibitor activity;GO:0019899 enzyme binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0008210 estrogen metabolic process;GO:0045922 negative regulation of fatty acid metabolic process;GO:0001889 liver development;GO:0006631 fatty acid metabolic process;GO:0042573 retinoic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q9HAW7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "C9JLJ4-1", "uniprot_id": "U17LD_HUMAN", "mass": 59694.0, "length": 530, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 13", "gene_name": "USP17L13", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 17-like protein 13", "refseq_ac": "NP_001243784", "gene_names_uniprotkb": "USP17L13", "gene_names_refseq": "USP17L13", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 13; 3.4.19.12", "protein_names_refseq": "ubiquitin carboxyl-terminal hydrolase 17-like protein 13", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:100287238); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10444327;10982817;11566882;11923872;12917689;12917691;14661020;15053880;15916963;16214042;16901786;16964248;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24896179;25197364;25305019;25578727;7578059", "class_list": "", "function": "Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "3.4.19.12;3.6.4.13;3.1.3.48;3.4.26.1", "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "C9JLJ4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O76080-1", "uniprot_id": "ZFAN5_HUMAN", "mass": 23132.0, "length": 213, "protein_name": "AN1-type zinc finger protein 5", "gene_name": "ZFAND5", "organism": "Human", "refseq_name": "AN1-type zinc finger protein 5", "refseq_ac": "NP_001095890", "gene_names_uniprotkb": "ZFAND5; ZA20D2; ZNF216", "gene_names_refseq": "ZA20D2; ZFAND5A; ZFAND5; ZNF216", "protein_names_uniprotkb": "AN1-type zinc finger protein 5; Zinc finger A20 domain-containing protein 2; Zinc finger protein 216", "protein_names_refseq": "AN1-type zinc finger protein 5; zinc finger A20 domain-containing protein 2; zinc finger protein 216; zinc finger, A20 domain containing 2; zinc finger, AN1-type domain 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:7763)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;14754897;16194934;17074750;18669648;19413330;19690332;20058876;20068231;20628086;22665488;23186163;23481700;24715725;25548167;25645385;26154972;26375851;27600516;27732953;27846572;27862975;27920218;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29786170;29789417;30484775;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32387766;32488085;33141586;33298915;33936100;33968037;34171305;34211107;34509645;35051231;35318648;36215666;36284347;37938771;9758550", "class_list": "", "function": "Involved in protein degradation via the ubiquitin-proteasome system. May act by anchoring ubiquitinated proteins to the proteasome. Plays a role in ubiquitin-mediated protein degradation during muscle atrophy. Plays a role in the regulation of NF-kappa-B activation and apoptosis. Inhibits NF-kappa-B activation triggered by overexpression of RIPK1 and TRAF6 but not of RELA. Also inhibits tumor necrosis factor (TNF), IL-1 and TLR4-induced NF-kappa-B activation in a dose-dependent manner. Overexpression sensitizes cells to TNF-induced apoptosis. Is a potent inhibitory factor for osteoclast differentiation., [UniProtKB, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Our results indicate that ZNF216 overexpression sensitizes to apoptosis the NIH3T3/EGFR/ZNF216 cells thus antagonizing the effect of activated EGFR-mediated survival in control cells that do not overexpress the ZNF216., [RefSeq, PubMed]; Redundant and distinct roles in regulating NFkappaB activation and apoptosis, [RefSeq, PubMed]; ZNF216 is a potent inhibitory factor for osteoclast differentiation and the mechanism is unlikely due to direct attenuation of the NF-kappa B pathway, [RefSeq, PubMed]; Zfand5 can enhance ARE-containing mRNA stability by competing with tristetraprolin for mRNA binding., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "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": "A8K484", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "O76080-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CV99-1", "uniprot_id": "TSPY4_HUMAN", "mass": 35727.0, "length": 314, "protein_name": "Testis-specific Y-encoded protein 4", "gene_name": "TSPY4", "organism": "Human", "refseq_name": "testis-specific Y-encoded protein 4", "refseq_ac": "NP_001157943", "gene_names_uniprotkb": "TSPY4", "gene_names_refseq": "TSPY4", "protein_names_uniprotkb": "Testis-specific Y-encoded protein 4", "protein_names_refseq": "testis-specific Y-encoded protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:728395)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "37938771", "class_list": "", "function": "May be involved in sperm differentiation and proliferation., [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:0003682 chromatin binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0006334 nucleosome assembly;GO:0007506 gonadal mesoderm development", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0CV99-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86VQ6-1", "uniprot_id": "TRXR3_HUMAN", "mass": 70683.0, "length": 643, "protein_name": "Thioredoxin reductase 3", "gene_name": "TXNRD3", "organism": "Human", "refseq_name": "thioredoxin reductase 3 isoform 2", "refseq_ac": "NP_001166984", "gene_names_uniprotkb": "TXNRD3; TGR; TRXR3; TXNRD3IT1; TXNRD3NB", "gene_names_refseq": "TGR; TR2IT1; TR2; TRXR3; TXNR3; TXNRD3IT1; TXNRD3NB; TXNRD3NT1; TXNRD3", "protein_names_uniprotkb": "Thioredoxin reductase 3; 1.8.1.9; Thioredoxin and glutathione reductase; Thioredoxin reductase 3 intronic transcript 1; Thioredoxin reductase 3 neighbor gene; Thioredoxin reductase TR2", "protein_names_refseq": "TXNRD3 neighbor gene protein; selenoprotein TXNRD3; thioredoxin and glutathione reductase; thioredoxin glutathione reductase; thioredoxin reductase 2 intronic transcript 1; thioredoxin reductase 3 intronic transcript 1; thioredoxin reductase 3 isoform 2; thioredoxin reductase 3 neighbor gene protein; thioredoxin reductase 3 new transcript 1; thioredoxin reductase TR2", "tax_id": 9606, "disease": "colorectal adenoma (Disease Ontology:DOID:0050860); colorectal carcinoma (Disease Ontology:DOID:0080199)", "pathway": " (hsa:114112)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10455115;11237011;15674732;18669648;20018845;24714562;29222842;29557506;30524438;30779550;32157095;32938616;32983136;33537174;33968037;33981976;35051231;36010968;36621786", "class_list": "", "function": "Displays thioredoxin reductase, glutaredoxin and glutathione reductase activities. Catalyzes disulfide bond isomerization. Promotes disulfide bond formation between GPX4 and various sperm proteins and may play a role in sperm maturation by promoting formation of sperm structural components (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Findings represent the first characterization of hTGR and provide new insights into the reaction mechanism and the regulation of monothiol Grx-containing thioredoxin glutathione reductases., [RefSeq, PubMed]; The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes the third TrxR, which unlike the other two isozymes, contains an additional N-terminal glutaredoxin (Grx) domain, and shows highest expression in testis. The Grx domain allows this isozyme to participate in both Trx and glutathione systems. It functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. Experimental evidence suggests the use of a non-AUG (CUG) codon as a translation initiation codon (PMID:20018845). [provided by RefSeq, Aug 2017]., [RefSeq]; This study pertains to use of non-AUG (CUG) start codon in mouse thioredoxin reductase 3 gene, and conservation of this site in other mammals., [RefSeq, PubMed]; [Effect of Selenoprotein Thioredoxin Reductase 3 on the Survival Prognosis of Tumor Patients]., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q6F5E7;Q6PIS8;Q9NNW6;Q9P101", "ec_number_list": "1.8.1.9;1.11.1.2", "go_molecular_function": "GO:0004791 thioredoxin-disulfide reductase (NADPH) activity;GO:0050660 flavin adenine dinucleotide binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0045454 cell redox homeostasis", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q86VQ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6AZZ1-1", "uniprot_id": "TRI68_HUMAN", "mass": 56259.0, "length": 485, "protein_name": "E3 ubiquitin-protein ligase TRIM68", "gene_name": "TRIM68", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM68 isoform 2", "refseq_ac": "NP_001291425", "gene_names_uniprotkb": "TRIM68; GC109; RNF137; SS56", "gene_names_refseq": "GC109; RNF137; SS-56; SS56; TRIM68", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM68; 2.3.2.27; RING finger protein 137; RING-type E3 ubiquitin transferase TRIM68; SS-56; SSA protein SS-56; Tripartite motif-containing protein 68", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM68 isoform 2; E3 ubiquitin-protein ligase TRIM68; RING-type E3 ubiquitin transferase TRIM68; Ro/SSA1 related protein; SSA protein SS-56; ring finger protein 137; tripartite motif-containing protein 68", "tax_id": 9606, "disease": "", "pathway": " (hsa:55128); (R-HSA-877300)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10067896;10986460;11237011;11560955;11597395;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15388922;15530433;16237089;16467876;17125875;18362138;18451177;18591661;19212346;20049711;20130243;20304997;20363976;23061660;23481700;24417533;25880248;26375851;26992070;28228285;28855257;29242379;29493099;30833945;31154438;31844290;32157095;32350084;32357974;32387766;32502341;32938616;33239784;33912179;33936100;33968037;33981976;35051231;36215666;36241641;36284347;36724555;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9111318;9143706", "class_list": "", "function": "Functions as a ubiquitin E3 ligase. Acts as a coactivator of androgen receptor (AR) depending on its ubiquitin ligase activity., [UniProtKB, PubMed]; TRIM68 functions as a cofactor for AR-mediated transcription and is likely to be a novel diagnostic tool and a potentially therapeutic target for prostate cancer., [RefSeq, PubMed]; This gene encodes a member of the tripartite motif-containing protein family, whose members are characterized by a 'really interesting new gene' (RING) finger domain, a zinc-binding B-box motif, and a coiled-coil region. Members of this family function as E3 ubiquitin ligases and are involved in a broad range of biological processes. This gene regulates the activation of nuclear receptors, such as androgen receptor, and has been implicated in development of prostate cancer cells, where its expression increases in response to a downregulation of microRNAs. In addition, this gene participates in viral defense regulation as a negative regulator of interferon-beta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]., [RefSeq]; Tripartite motif-containing 68-stabilized modulator of apoptosis-1 retards the proliferation and metastasis of 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A6NI19;A8K551;B3KPM5;B4DVK4;Q8WZ70;Q96LE5;Q96PF7;Q9H9C2;Q9NW18", "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:0004842 ubiquitin-protein transferase activity;GO:0050681 nuclear androgen receptor 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:0045087 innate immune response;GO:0010468 regulation of gene expression;GO:0051865 protein autoubiquitination;GO:0060765 regulation of androgen receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q6AZZ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96C45-1", "uniprot_id": "ULK4_HUMAN", "mass": 142442.0, "length": 1275, "protein_name": "Inactive serine/threonine-protein kinase ULK4", "gene_name": "ULK4", "organism": "Human", "refseq_name": "serine/threonine-protein kinase ULK4 isoform 1", "refseq_ac": "NP_060356", "gene_names_uniprotkb": "ULK4", "gene_names_refseq": "FAM7C1; REC01035; ULK4", "protein_names_uniprotkb": "Inactive serine/threonine-protein kinase ULK4; Pseudokinase ULK4; Unc-51-like kinase 4", "protein_names_refseq": "serine/threonine-protein kinase ULK4 isoform 1; serine/threonine-protein kinase ULK4", "tax_id": 9606, "disease": "hydrocephalus (Disease Ontology:DOID:10908)", "pathway": " (hsa:54986)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;12471243;17344846;19430479;20414254;21045733;22424782;24284070;24715725;25645385;26992070;28904123;29557506;30484775;31841327;31844290;32357974;32814032;32938616;33298915;33592498;33833419;33968037;34171305;35051231;35580925;36010968;38096226;39185807", "class_list": "", "function": "Association of Unc-51-like Kinase 4 (ULK4) with the reactivity of the extended reward system in response to conditioned stimuli., [RefSeq, PubMed]; First identified as an ULK family kinase and predicted to be catalytically inactive. Review article, [RefSeq, PubMed]; Observational study and meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational 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]; Pseudokinase that acts as a molecular adapter in the smoothened signaling pathway (PubMed:38096226). Required to relieve inhibition of the GLI2 transcription factor in the presence of hedgehog (DHH, IHH or SHH) ligand: acts by mediating the association between STK36 and its ligand GLI2 in ciliary tip, promoting GLI2 phosphorylation and dissociation from SUFU inhibitor, followed by GLI2 translocation to the nucleus (PubMed:38096226)., [UniProtKB, PubMed]; Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population., [RefSeq, PubMed]; This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [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": 11, "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": "A6NF15;B3KSE5;B4E2M4;Q8IW79;Q9NWV6;Q9UF96", "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:0004672 protein kinase activity", "go_cellular_component": "", "go_biological_process": "GO:1900744 regulation of p38MAPK cascade;GO:0000226 microtubule cytoskeleton organization;GO:0010975 regulation of neuron projection development;GO:0046328 regulation of JNK cascade;GO:0042313 protein kinase C deactivation", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q96C45-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49746-1", "uniprot_id": "TSP3_HUMAN", "mass": 104201.0, "length": 956, "protein_name": "Thrombospondin-3", "gene_name": "THBS3", "organism": "Human", "refseq_name": "thrombospondin-3 isoform 2 precursor", "refseq_ac": "NP_001239536", "gene_names_uniprotkb": "THBS3; TSP3", "gene_names_refseq": "THBS3; TSP3", "protein_names_uniprotkb": "Thrombospondin-3", "protein_names_refseq": "thrombospondin-3 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:7059); (R-HSA-186797)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10.1101/2023.09.13.557529;10508235;11237011;12369853;12538485;1311092;15207811;15615512;15767546;16331269;1639841;16436588;16474853;16959974;17287340;17367763;17604334;17943726;18559524;19564526;20813817;21251937;21376233;22933705;23090970;23583652;24190977;25328409;25597754;25645385;25880248;26768311;28435517;29093181;29137923;29263244;29408302;29557506;29741879;29964125;30389923;30429286;31085175;31154438;31844290;31848261;32157095;32350084;32897882;32938616;33691108;33912179;33961290;34019948;34411563;34669362;35051231;36010968;37074911;37524613;7558000;8900172;9331372;9334164;9739761", "class_list": "", "function": "Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Can bind to fibrinogen, fibronectin, laminin and type V collagen., [UniProtKB, UniProtKB, UniProtKB]; Hyperuricemia and coronary heart disease: The mediating role of blood pressure and thrombospondin 3., [RefSeq, PubMed]; MRNA Expression of thrombospondin 1, 2 and 3 from proximal to distal in human abdominal aortic aneurysm - preliminary report., [RefSeq, PubMed]; Serum levels of the IgA isotype switch factor TGF-beta1 are elevated in patients with COVID-19. Erratum:[FEBS Lett. 2021 Nov;595(22):2844. doi: 10.1002/1873-3468.14217. PMID: 34747013], [RefSeq, PubMed]; The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results in coding and non-coding transcript variants. [provided by RefSeq, Nov 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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 38, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B1AVR8;B4DQ20;Q8WV34", "ec_number_list": "", "go_molecular_function": "GO:0008201 heparin binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix;GO:0048471 perinuclear region of cytoplasm;GO:1990341 thrombospondin complex", "go_biological_process": "GO:0007160 cell-matrix adhesion;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "P49746-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6H3X3-1", "uniprot_id": "ULBP5_HUMAN", "mass": 37106.0, "length": 334, "protein_name": "UL-16 binding protein 5", "gene_name": "RAET1G", "organism": "Human", "refseq_name": "UL-16 binding protein 5 preproprotein", "refseq_ac": "NP_001001788", "gene_names_uniprotkb": "RAET1G; ULBP5", "gene_names_refseq": "RAET1G; ULBP5", "protein_names_uniprotkb": "UL-16 binding protein 5; Retinoic acid early transcript 1G protein", "protein_names_refseq": "UL-16 binding protein 5 preproprotein; UL-16 binding protein 5; retinoic acid early transcript 1G protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:353091); (R-HSA-163125)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "11072085;11237011;15240696;18544572;19223974;19349973;19658097;20112406;20304922;23090970;24190977;2443973;25212604;25576301;29393594;32350084;32387766;33091337;33968037;3422494", "class_list": "", "function": "Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Binds the activating receptor NKG2D and the the human cytomegalovirus protein UL16., [RefSeq, PubMed]; Down-regulates the expression of KLRK1 and stimulates natural killer cells to secrete IFNG., [UniProtKB, PubMed]; Human anaplastic thyroid carcinoma cells are sensitive to NK cell-mediated lysis via ULBP2/5/6 and chemoattract NK cells., [RefSeq, PubMed]; Stimulates natural killer cells to secrete IFNG., [UniProtKB, PubMed]; This gene encodes a member of the major histocompatibility complex (MHC) class I family of proteins. Although the encoded protein includes C-terminal transmembrane and cytoplasmic domains, proteolytic processing results in the removal of these domains and subsequent tethering to the plasma membrane by a glycosylphosphatidylinositol (GPI)-anchor. The encoded protein is one of several related ligands of the natural killer group 2, member D (NKG2D) receptor, which functions as an activating receptor in innate and adaptive immunity. This gene is present in a gene cluster on chromosome 6. [provided by RefSeq, Jul 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 16, "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": "Q6H3X2", "ec_number_list": "", "go_molecular_function": "GO:0046703 natural killer cell lectin-like receptor binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0002476 antigen processing and presentation of endogenous peptide antigen via MHC class Ib;GO:0002486 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent;GO:0001916 positive regulation of T cell mediated cytotoxicity;GO:0042267 natural killer cell mediated cytotoxicity;GO:0002729 positive regulation of natural killer cell cytokine production", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q6H3X3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HBJ7-1", "uniprot_id": "UBP29_HUMAN", "mass": 104156.0, "length": 922, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 29", "gene_name": "USP29", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 29 isoform 1", "refseq_ac": "NP_065954", "gene_names_uniprotkb": "USP29", "gene_names_refseq": "HOM-TES-84/86; USP29", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 29; 3.4.19.12; Deubiquitinating enzyme 29; Ubiquitin thioesterase 29; Ubiquitin-specific-processing protease 29", "protein_names_refseq": "deubiquitinating enzyme 29; ubiquitin carboxyl-terminal hydrolase 29 isoform 1; ubiquitin carboxyl-terminal hydrolase 29; ubiquitin thioesterase 29; ubiquitin thiolesterase 29; ubiquitin-specific processing protease; ubiquitin-specific-processing protease 29", "tax_id": 9606, "disease": "", "pathway": " (hsa:57663)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10958632;11237011;18491316;24632611;25576301;28228285;32457395;34071237;34601505;35051231;35580925;35638730;36782089;37217939", "class_list": "", "function": "Deubiquitinase involved in innate antiviral immunity by mediating 'Lys-48'-linked deubiquitination of CGAS, thereby promoting its stabilization., [UniProtKB, PubMed]; Phosphorylation of USP29 by CDK1 Governs TWIST1 Stability and Oncogenic Functions., [RefSeq, PubMed]; The Deubiquitinase USP29 Promotes SARS-CoV-2 Virulence by Preventing Proteasome Degradation of ORF9b., [RefSeq, PubMed]; USP29 coordinates MYC and HIF1alpha stabilization to promote tumor metabolism and progression., [RefSeq, PubMed]; USP29 interacts with Claspin and is able to deubiquitinate it both in vivo and in vitro., [RefSeq, PubMed]; Ubiquitin-Specific Protease 29 Regulates Cdc25A-Mediated Tumorigenesis. 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": 13, "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:0004197 cysteine-type endopeptidase activity;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0006508 proteolysis;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0050821 protein stabilization;GO:0031647 regulation of protein stability", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9HBJ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NGB9-1", "uniprot_id": "WIPF3_HUMAN", "mass": 49458.0, "length": 483, "protein_name": "WAS/WASL-interacting protein family member 3", "gene_name": "WIPF3", "organism": "Human", "refseq_name": "WAS/WASL-interacting protein family member 3 isoform 1", "refseq_ac": "NP_001073998", "gene_names_uniprotkb": "WIPF3; CR16", "gene_names_refseq": "CR16; WIPF3", "protein_names_uniprotkb": "WAS/WASL-interacting protein family member 3; Corticosteroids and regional expression protein 16 homolog", "protein_names_refseq": "WAS/WASL-interacting protein family member 3 isoform 1; corticosteroids and regional expression protein 16 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:644150); (R-HSA-2029482); (R-HSA-5663213); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9664422)", "pathway_count": 6, "publication_count": 332, "publication_id_list": "10219243;10232922;10464238;10490598;10496324;10508610;10523665;10523675;10526156;10559246;10559936;10579713;10699171;10699464;10724160;10781580;10873802;10878810;10958683;10995437;11007481;11058585;11085924;11149925;11157975;11231582;11237011;11276226;11278486;11306516;11329366;11340081;11373293;11396949;11431473;11432776;11553796;11584276;11606631;11672528;11696321;11704860;11707441;11747816;11756552;11773441;11803464;11804587;11804589;11804590;11829459;11854399;11884391;11912491;11948177;11961559;12055636;12071859;12093360;12096337;12105426;12172552;12189515;12195014;12213210;12221096;12235133;12351724;12372256;12432077;12464619;12531887;12546821;12547822;12650940;12665586;12743368;12773384;12857875;12860998;12877655;12907671;12923183;1314888;14506234;14512443;14514689;1464587;14675773;14676198;14718541;15023524;15033976;15040784;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15452139;15485661;15507211;15579468;15601624;15611138;15657136;15728722;15850391;15858067;15897194;16002401;16112081;16116428;16184169;16217026;16243036;16262445;16473593;16492808;16507994;16519628;16546099;16630611;16636067;16641196;16702231;16714282;16762923;16777452;16777849;16862148;16880808;16896804;16914516;16968698;17064668;17077126;17145773;17188549;17196961;17202194;17214551;17244649;17308335;17573773;17583407;17599059;17702745;17765681;17804252;17932950;17976533;18006505;18045877;18056264;18070890;18218625;18249095;18347018;18363964;18391171;18396277;18426980;18653540;18786931;18835169;18838382;18929667;19269969;19494238;19605563;19673492;19713215;19741094;19934221;19955216;20400958;20460433;20679435;20810653;21037092;21148482;21348202;21419341;21454492;21542010;21565175;21613211;21685891;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22461490;22475431;22571869;22608513;22734669;22970203;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23675550;23707487;23718289;23940355;24086303;24129315;24259668;24335996;24352656;24584464;2474607;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26529257;26598554;26887924;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27846572;28028151;28114311;28161632;28196833;28657654;28825699;28860633;29089502;29358323;29382922;30061681;30853411;31871319;32203420;32357974;32387766;32488085;32938616;33141586;33298915;33912179;33968037;33981976;35051231;35318648;36010968;36649229;7479768;7512369;7559638;7673236;7721814;7753201;7835339;7848918;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8809042;8810315;8816443;8939998;8986718;8990121;8994827;9013646;9099726;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9582072;9600938;9659915;9670022;9705280;9792683;9799231;9822598;9829970;9843499;9846874;9883880;9885284;9988689", "class_list": "", "function": "CR16 and N-WASP are suggested to play important roles in spermatogenesis Erratum:[Genes Cells. 2007 Aug;12(8):981. Banzai, Yoshibumi [corrected to Banzai, Yoshifumi]], [RefSeq, PubMed]; Identification of ARMH4 and WIPF3 as human podocyte proteins with potential roles in immunomodulation and cytoskeletal dynamics. Publication Status: Online-Only, [RefSeq, PubMed]; May be a regulator of cytoskeletal organization. May have a role in spermatogenesis (By similarity)., [UniProtKB]; The expressions of the CR16 protein and mRNA decrease markedly in the testis of patients with idiopathic azoospermia., [RefSeq, PubMed]; These findings provide the basis for further functional investigations of the ITSN/CR16 complex that may play an important role in actin remodeling and cellular invasion., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B8ZZV2", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0043014 alpha-tubulin binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0055037 recycling endosome;GO:0071203 WASH complex", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0034314 Arp2/3 complex-mediated actin nucleation;GO:0042147 retrograde transport, endosome to Golgi;GO:0006887 exocytosis", "synthesized_glycan_count": 0, "hit_score": 33.5, "record_id": "A6NGB9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "D6RJB6-1", "uniprot_id": "U17LK_HUMAN", "mass": 59626.0, "length": 530, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 20", "gene_name": "USP17L20", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 17-like protein 20", "refseq_ac": "NP_001243790", "gene_names_uniprotkb": "USP17L20", "gene_names_refseq": "USP17L20", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 20; 3.4.19.12", "protein_names_refseq": "ubiquitin carboxyl-terminal hydrolase 17-like protein 20", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:100287441); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10444327;10982817;11566882;11923872;12917689;12917691;14661020;15053880;15916963;16214042;16901786;16964248;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24896179;25197364;25305019;25578727;7578059", "class_list": "", "function": "Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "3.4.19.12;3.6.4.13;3.1.3.48;3.4.26.1", "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "D6RJB6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NC05-1", "uniprot_id": "YD286_HUMAN", "mass": 15764.0, "length": 138, "protein_name": "Glutaredoxin-like protein C5orf63", "gene_name": "C5orf63", "organism": "Human", "refseq_name": "glutaredoxin-like protein C5orf63 isoform 2", "refseq_ac": "NP_001157950", "gene_names_uniprotkb": "C5orf63", "gene_names_refseq": "C5orf63; YDR286C", "protein_names_uniprotkb": "Glutaredoxin-like protein C5orf63", "protein_names_refseq": "glutaredoxin-like protein C5orf63 isoform 2; glutaredoxin-like protein C5orf63; glutaredoxin-like protein YDR286C homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:401207)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "G3V557", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NC05-1", "record_type": "protein" }, { "uniprot_canonical_ac": "F5GYI3-1", "uniprot_id": "UBA1L_HUMAN", "mass": 40592.0, "length": 381, "protein_name": "Ubiquitin-associated protein 1-like", "gene_name": "UBAP1L", "organism": "Human", "refseq_name": "ubiquitin-associated protein 1-like", "refseq_ac": "NP_001157164", "gene_names_uniprotkb": "UBAP1L", "gene_names_refseq": "RDZH; UBAP-1L; UBAP1L", "protein_names_uniprotkb": "Ubiquitin-associated protein 1-like; UBAP-1L", "protein_names_refseq": "ubiquitin-associated protein 1-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:390595)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;27600516;29242379;32157095;38293907;38420906", "class_list": "", "function": "Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration., [RefSeq, PubMed]; Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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:0043130 ubiquitin binding", "go_cellular_component": "GO:0000813 ESCRT I complex", "go_biological_process": "GO:0043162 ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "F5GYI3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TD07-1", "uniprot_id": "RAE1E_HUMAN", "mass": 30122.0, "length": 263, "protein_name": "Retinoic acid early transcript 1E", "gene_name": "RAET1E", "organism": "Human", "refseq_name": "retinoic acid early transcript 1E isoform 2", "refseq_ac": "NP_001230254", "gene_names_uniprotkb": "RAET1E; LETAL; N2DL4; PRO4303; ULBP4", "gene_names_refseq": "LETAL; N2DL-4; NKG2DL4; RAET1E2; RAET1E; RL-4; ULBP4; bA350J20.7", "protein_names_uniprotkb": "Retinoic acid early transcript 1E; Lymphocyte effector toxicity activation ligand; N2DL-4; NKG2D ligand 4; NKG2DL4; RAE-1-like transcript 4; UL16-binding protein 4", "protein_names_refseq": "NKG2D ligand 4; RAE-1-like transcript 4; UL16-binding protein 4; lymphocyte effector toxicity activation ligand; retinoic acid early transcript 1E isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:135250); (R-HSA-198933)", "pathway_count": 2, "publication_count": 90, "publication_id_list": "10.1101/2023.09.13.557529;10499918;10746781;11265639;11489943;11513152;11556966;11807247;11827464;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12732206;12975309;14508119;14719373;14970179;15034010;15136729;15155468;15187158;15240696;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;17470428;18031695;18037897;18055229;18209062;18234675;18544572;18593354;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24305946;25703557;25716998;26284469;26300885;28339029;30662365;33208770;33556116;36241641;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "An association of the raet1e polymorphisms with an increased risk of developing premature CAD and with cardiometabolic parameters has been shown for the first time. Publication Status: Online-Only, [RefSeq, PubMed]; Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity., [UniProtKB, PubMed, PubMed]; Blocking the interaction of NKG2D with its ligands deleted the sensitizing effects of HCQ. In addition, we showed that HCQ did not affect the synthesis or degradation of ULBP4, but induced the translocation of ULBP4 from the cytoplasm to the cell membrane, [RefSeq, PubMed]; The NKG2D ligand ULBP4 is not expressed by human monocytes. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belong to the RAET1 family, which consists of major histocompatibility complex (MHC) class I-related genes located in a cluster on chromosome 6q24.2-q25.3. This and RAET1G protein differ from other RAET1 proteins in that they have type I membrane-spanning sequences at their C termini rather than glycosylphosphatidylinositol anchor sequences. This protein functions as a ligand for NKG2D receptor, which is expressed on the surface of several types of immune cells, and is involved in innate and adaptive immune responses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2011]., [RefSeq]; Transcriptomic analysis of micropapillary high grade T1 urothelial bladder cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6YF59;Q5VYB7;Q5VYB8;Q8TEZ2;Q96L41", "ec_number_list": "", "go_molecular_function": "GO:0046703 natural killer cell lectin-like receptor binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0002476 antigen processing and presentation of endogenous peptide antigen via MHC class Ib;GO:0002486 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent;GO:0001916 positive regulation of T cell mediated cytotoxicity;GO:0045954 positive regulation of natural killer cell mediated cytotoxicity;GO:0042267 natural killer cell mediated cytotoxicity", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q8TD07-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NIX2-1", "uniprot_id": "WTIP_HUMAN", "mass": 45124.0, "length": 430, "protein_name": "Wilms tumor protein 1-interacting protein", "gene_name": "WTIP", "organism": "Human", "refseq_name": "Wilms tumor protein 1-interacting protein", "refseq_ac": "NP_001073905", "gene_names_uniprotkb": "WTIP", "gene_names_refseq": "WTIP", "protein_names_uniprotkb": "Wilms tumor protein 1-interacting protein; WT1-interacting protein", "protein_names_refseq": "Wilms tumor 1 interacting protein; Wilms tumor protein 1-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:126374); (R-HSA-1234176)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10535940;10823831;10878807;10944113;10973499;11024059;11237011;11292861;11292862;11358837;11454738;11504942;11598268;12101228;12351678;12538644;12615973;12788921;12821933;12912907;14736876;15247232;15474027;15652751;15987702;16738327;17182618;17434750;18184961;18331720;18337469;19208626;19785987;20086015;20303269;20616046;21335549;21834987;22286099;26375851;28832583;29242379;30179602;30690883;33108271;33592498;33968037;34561969;34930905;35671065;9122164;9891082", "class_list": "", "function": "Adapter or scaffold protein which participates in the assembly of numerous protein complexes and is involved in several cellular processes such as cell fate determination, cytoskeletal organization, repression of gene transcription, cell-cell adhesion, cell differentiation, proliferation and migration. Positively regulates microRNA (miRNA)-mediated gene silencing. Negatively regulates Hippo signaling pathway and antagonizes phosphorylation of YAP1. Acts as a transcriptional corepressor for SNAI1 and SNAI2/SLUG-dependent repression of E-cadherin transcription. Acts as a hypoxic regulator by bridging an association between the prolyl hydroxylases and VHL enabling efficient degradation of HIF1A. In podocytes, may play a role in the regulation of actin dynamics and/or foot process cytoarchitecture (By similarity). In the course of podocyte injury, shuttles into the nucleus and acts as a transcription regulator that represses WT1-dependent transcription regulation, thereby translating changes in slit diaphragm structure into altered gene expression and a less differentiated phenotype. Involved in the organization of the basal body (By similarity). Involved in cilia growth and positioning (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Full-length Ror2 recruits Wtip to the cell membrane, a mutant involved in human disease fails to do so. Both genes and proteins show overlapping expression in the mouse embryo., [RefSeq, PubMed]; Stress signaling pathways initiate WTIP nuclear translocation, and the concomitant loss of WTIP from cell contacts changes podocyte morphology and dynamic actin assembly, suggesting a mechanism that transmits changes in podocyte morphology to the nucleus., [RefSeq, PubMed]; The S-phase-induced lncRNA SUNO1 promotes cell proliferation by controlling YAP1/Hippo signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The findings suggest that the UBA2-WTIP fusion is an oncogenic fusion gene, as well as a promising therapeutic target for the treatment of acute myeloid leukemia., [RefSeq, PubMed]; WTIP impairs AKT phosphorylation and activation, leading to enhanced expression and transcriptional activity of FOXO1, which further increases p21Cip1 and p27Kip1, and decreases cyclin D1, which consequently results in cell cycle arrest., [RefSeq, PubMed]; WTIP is a member of the Ajuba family of LIM-domain containing proteins. Ajuba LIM proteins co-repress E-cadherin expression through interaction with the SNAG domain of Snail/Slug and promote epithelial to mesenchymal differentiation in a Xenopus model., [RefSeq, PubMed]; WTIP monitors slit diaphragm protein assembly as part of a multiple protein complex, linking this specialized adhesion junction to the actin cytoskeleton, and shuttles into the nucleus after podocyte injury, [RefSeq, PubMed]; WTIP upregulates FOXO3a and induces apoptosis through PUMA in acute myeloid leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Wnt Signaling Interactor WTIP (Wilms Tumor Interacting Protein) Underlies Novel Mechanism for Cardiac Hypertrophy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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:0046872 metal ion binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005912 adherens junction;GO:0000932 P-body;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0001666 response to hypoxia;GO:0006355 regulation of DNA-templated transcription;GO:0007010 cytoskeleton organization;GO:0035278 miRNA-mediated gene silencing by inhibition of translation", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "A6NIX2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VTQ0-1", "uniprot_id": "TT39B_HUMAN", "mass": 76956.0, "length": 682, "protein_name": "Tetratricopeptide repeat protein 39B", "gene_name": "TTC39B", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 39B isoform 5", "refseq_ac": "NP_001161814", "gene_names_uniprotkb": "TTC39B; C9orf52", "gene_names_refseq": "C9orf52; TTC39B", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 39B; TPR repeat protein 39B", "protein_names_refseq": "TPR repeat protein 39B; tetratricopeptide repeat protein 39B isoform 5; tetratricopeptide repeat protein 39B", "tax_id": 9606, "disease": "", "pathway": " (hsa:158219)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;19060906;20686565;25920552;27453397;27600516;28832583;29242379;29557506;29786170;29789417;30429286;31844290;32157095;32488085;32938616;32983136;33968037;33981976;34171305;35051231;35580925;36284347", "class_list": "", "function": "Association of rs519664[T] in TTC39B on 9p22 with endometriosis, is reported. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Regulates high density lipoprotein (HDL) cholesterol metabolism by promoting the ubiquitination and degradation of the oxysterols receptors LXR (NR1H2 and NR1H3)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Two new polymorphisms associated with gall bladder disease and obesity in women have been identified, GCKR rs1260326, and TTC39B rs686030., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A5PLN1;B4DQ10;B4DQX4;B4DW93;Q8IVR7;Q8IXZ6;Q8N267", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0090181 regulation of cholesterol metabolic process;GO:0010887 negative regulation of cholesterol storage;GO:0042632 cholesterol homeostasis;GO:0010874 regulation of cholesterol efflux", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q5VTQ0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UPW8-1", "uniprot_id": "UN13A_HUMAN", "mass": 193014.0, "length": 1703, "protein_name": "Protein unc-13 homolog A", "gene_name": "UNC13A", "organism": "Human", "refseq_name": "protein unc-13 homolog A isoform 1", "refseq_ac": "NP_001073890", "gene_names_uniprotkb": "UNC13A; KIAA1032", "gene_names_refseq": "IDDSF; Munc13-1; NEDHES; NEDSMS; UNC13A", "protein_names_uniprotkb": "Protein unc-13 homolog A; Munc13-1", "protein_names_refseq": "protein unc-13 homolog A isoform 1; protein unc-13 homolog A", "tax_id": 9606, "disease": "neurodevelopmental disorder with hypotonia, epilepsy, and absent speech (Disease Ontology:DOID:0061252); neurodevelopmental disorder with speech delay, movement abnormalities, and seizures (Disease Ontology:DOID:0061253); intellectual developmental disorder with seizures and dysmorphic facies (Disease Ontology:DOID:0061254); alcohol use disorder (Disease Ontology:DOID:1574); epilepsy (Disease Ontology:DOID:1826); amyotrophic lateral sclerosis (Disease Ontology:DOID:332)", "pathway": " (hsa:23025)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;12871971;19734901;22118904;23999003;25892735;27648472;28192369;29557506;29769354;30078552;30379171;30779550;31844290;31848261;32157095;32161166;32502341;33818064;34087483;34171305;35051231;35197626;35197628;37887320;38175301;41125872", "class_list": "", "function": "Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Interaction of the C9orf72-Amyotrophic Lateral Sclerosis-Related Proline-Arginine Dipeptide Repeat Protein with the RNA-Binding Protein NOVA1 Causes Decreased Expression of UNC13A Due to Enhanced Inclusion of Cryptic Exons, Which Is Reversed by Betulin Treatment. Publication Status: Online-Only, [RefSeq, PubMed]; Our results further corroborate the role of UNC13A in amyotrophic lateral sclerosis pathogenesis., [RefSeq, PubMed]; Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity-dependent refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in most excitatory/glutamatergic but not inhibitory/GABA-mediated synapses. Facilitates neuronal dense core vesicles fusion as well as controls the location and efficiency of their synaptic release (By similarity). Also involved in secretory granule priming in insulin secretion. Plays a role in dendrite formation by melanocytes (PubMed:23999003)., [UniProtKB, UniProtKB, PubMed, UniProtKB]; Probing the Diacylglycerol Binding Site of Presynaptic Munc13-1., [RefSeq, PubMed]; Rs12608932 Single Nucleotide Polymorphism is located at 19p13.3 and maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters such as glutamate at neuromuscular synapses. GeneRIF: Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Erratum:[Nature. 2024 Jul;631(8020):E7. doi: 10.1038/s41586-024-07577-9. PMID: 38890465], [RefSeq, PubMed]; TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A., [RefSeq, PubMed]; This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Feb 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "E5RHY9", "ec_number_list": "", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005543 phospholipid binding;GO:0008270 zinc ion binding;GO:0005509 calcium ion binding;GO:0019992 diacylglycerol binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031594 neuromuscular junction;GO:0043195 terminal bouton;GO:0048786 presynaptic active zone;GO:0043005 neuron projection", "go_biological_process": "GO:1903861 positive regulation of dendrite extension;GO:0030154 cell differentiation;GO:0035249 synaptic transmission, glutamatergic;GO:0007269 neurotransmitter secretion;GO:0051966 regulation of synaptic transmission, glutamatergic", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9UPW8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NFU3-1", "uniprot_id": "TSTD1_HUMAN", "mass": 12530.0, "length": 115, "protein_name": "Thiosulfate:glutathione sulfurtransferase", "gene_name": "TSTD1", "organism": "Human", "refseq_name": "thiosulfate:glutathione sulfurtransferase isoform 3", "refseq_ac": "NP_001106676", "gene_names_uniprotkb": "TSTD1; KAT", "gene_names_refseq": "KAT; TSTD1", "protein_names_uniprotkb": "Thiosulfate:glutathione sulfurtransferase; 2.8.1.3; TST", "protein_names_refseq": "putative thiosulfate sulfurtransferase KAT; thiosulfate sulfurtransferase (rhodanese)-like domain containing 1; thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 1; thiosulfate:glutathione sulfurtransferase isoform 3; thiosulfate:glutathione sulfurtransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:100131187); (R-HSA-1614517)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10585886;11237011;12665801;12817473;12832624;16475804;17459792;18494801;19136963;20628086;21845542;24981631;25576301;25880248;26992070;27030575;28218747;28832583;29242379;29348167;29557506;29632711;30192525;30779550;32157095;32350084;32357974;32983136;33298915;33537174;33691108;33936100;34932366;35051231;35580925;36241641;37938771;4441366;6361026", "class_list": "", "function": "Biosynthesis of a central intermediate in hydrogen sulfide metabolism by a novel human sulfurtransferase and its yeast ortholog., [RefSeq, PubMed]; Data suggest that TSTD1 can utilize thioredoxin as an acceptor in the presence of thioredoxin reductase and NADPH., [RefSeq, PubMed]; Endurance exercise caused an increase in plasma KYNA within the first hour after exercise. In contrast, a bout of high-intensity eccentric exercise did not lead to increased plasma KYNA concentration. Our results show that regular endurance exercise causes adaptations in kynurenine metabolism which can have implications for exercise recommendations for patients with depressive disorder., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; The presence of kynurenine aminotransferase III in Corpora amylacea in the human retina and optic nerve indicates that this enzyme may be relevant in mechanisms of neurodegeneration leading to Corpora amylaceaformation., [RefSeq, PubMed]; Thiosulfate:glutathione sulfurtransferase (TST) required to produce S-sulfanylglutathione (GSS(-)), a central intermediate in hydrogen sulfide metabolism (PubMed:24981631). Provides the link between the first step in mammalian H(2)S metabolism performed by the sulfide:quinone oxidoreductase (SQOR) which catalyzes the conversion of H(2)S to thiosulfate, and the sulfur dioxygenase (SDO) which uses GSS(-) as substrate (PubMed:24981631). The thermodynamic coupling of the irreversible SDO and reversible TST reactions provides a model for the physiologically relevant reaction with thiosulfate as the sulfane donor (PubMed:24981631). GSS(-) spontaneously reacts with glutathione to form glutathione disulfide (Probable)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5SY48;Q5SY49;Q5SY50;Q5SY51;Q8NFU2;Q9BV22", "ec_number_list": "2.8.1.3", "go_molecular_function": "GO:0050337 thiosulfate-thiol sulfurtransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0070221 sulfide oxidation, using sulfide:quinone oxidoreductase", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q8NFU3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NHH1-1", "uniprot_id": "TTL11_HUMAN", "mass": 79091.0, "length": 710, "protein_name": "Tubulin polyglutamylase TTLL11", "gene_name": "TTLL11", "organism": "Human", "refseq_name": "tubulin polyglutamylase TTLL11 isoform a", "refseq_ac": "NP_001132914", "gene_names_uniprotkb": "TTLL11; C9orf20", "gene_names_refseq": "C9orf148; C9orf20; TTLL11-IT1; TTLL11; bA244O19.1", "protein_names_uniprotkb": "Tubulin polyglutamylase TTLL11; 6.3.2.-; Tubulin--tyrosine ligase-like protein 11", "protein_names_refseq": "TTLL11 intronic transcript 1 (non-protein coding); TTLL11 intronic transcript 1; tubulin polyglutamylase TTLL11 isoform a; tubulin polyglutamylase TTLL11; tubulin tyrosine ligase like11; tubulin tyrosine ligase-like family, member 11; tubulin--tyrosine ligase-like protein 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:158135); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "11237011;1520276;15890843;16901895;17244817;17244818;17360631;17499049;18331838;19524510;19531357;20519502;20583170;21074048;22493317;23358242;25103237;25468068;25957412;25959773;29146868;29242379;34040021;36511133;7452228", "class_list": "", "function": "Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Polyglutamylase which modifies tubulin, generating polyglutamate side chains of variable lengths on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin. Preferentially mediates ATP-dependent polyglutamate long side-chain elongation over the initiation step of the polyglutamylation reaction. Preferentially modifies the alpha-tubulin tail over a beta-tail (By similarity). Required for CCSAP localization to both spindle and cilia microtubules (PubMed:22493317). Promotes tubulin polyglutamylation which stimulates spastin/SPAST-mediated microtubule severing, thereby regulating microtubule functions (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]; TTLL11 gene is associated with sustained attention performance and brain networks: A genome-wide association study of a healthy Chinese sample., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A0A8I5KQZ2;F8W6M1", "ec_number_list": "3.6.5.-;6.3.2.-;6.-.-.-", "go_molecular_function": "GO:0070740 tubulin-glutamic acid ligase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0015631 tubulin binding;GO:0106437 protein-glutamic acid ligase activity, initiating", "go_cellular_component": "GO:0005829 cytosol;GO:0005874 microtubule;GO:0036064 ciliary basal body", "go_biological_process": "GO:0000226 microtubule cytoskeleton organization;GO:0018095 protein polyglutamylation", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8NHH1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A1L157-1", "uniprot_id": "TSN11_HUMAN", "mass": 28245.0, "length": 253, "protein_name": "Tetraspanin-11", "gene_name": "TSPAN11", "organism": "Human", "refseq_name": "tetraspanin-11 isoform 1", "refseq_ac": "NP_001073978", "gene_names_uniprotkb": "TSPAN11", "gene_names_refseq": "TSPAN11; VSSW1971", "protein_names_uniprotkb": "Tetraspanin-11; Tspan-11", "protein_names_refseq": "tetraspanin-11 isoform 1; tspan-11", "tax_id": 9606, "disease": "", "pathway": " (hsa:441631)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;28514659;35051231", "class_list": "", "function": "Facilitates focal adhesion assembly to regulate osteoblast alignment and guide bone matrix formation orthogonally to cell orientation., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A1L158;B2RUX6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0048041 focal adhesion assembly", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A1L157-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q12792-2", "uniprot_id": "TWF1_HUMAN", "mass": 40283.0, "length": 350, "protein_name": "Twinfilin-1", "gene_name": "TWF1", "organism": "Human", "refseq_name": "twinfilin-1 isoform 1", "refseq_ac": "NP_001229326", "gene_names_uniprotkb": "TWF1; PTK9", "gene_names_refseq": "A6; PTK9; TWF1", "protein_names_uniprotkb": "Twinfilin-1; Protein A6; Protein tyrosine kinase 9", "protein_names_refseq": "A6 protein tyrosine kinase; PTK9 protein tyrosine kinase 9; protein A6; twinfilin, actin-binding protein, homolog 1; twinfilin-1 isoform 1; twinfilin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5756); (R-HSA-9013418); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 4, "publication_count": 65, "publication_id_list": "10025409;10821263;11163272;12429826;12807912;15107402;15592455;18669648;18835386;19690332;20068231;22544926;22564745;24275569;24608665;25576301;25645385;26154972;26758079;26992070;27397612;27600516;27846572;27862975;27941885;28493397;28832583;28834231;28904123;29242379;29493099;29557506;29632711;29786170;30429286;31154438;31844290;31848261;31871319;32157095;32350084;32488085;32938616;33141586;33298915;33592498;33717175;33968037;33981976;33982563;34087483;34171305;34519634;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37358822;37938771;38665916;39990658;7507208", "class_list": "", "function": "Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G-actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles (By similarity)., [UniProtKB]; Long non-coding RNA FGD5-AS1 contributes to cisplatin resistance in hepatocellular carcinoma via sponging microRNA-153-3p by upregulating Twinfilin Actin Binding Protein 1 (TWF1)., [RefSeq, PubMed]; Mammals have two twinfilin isoforms, which are differentially expressed and regulated through distinct cellular signaling pathways, [RefSeq, PubMed]; Multifunctional Liposomes Enable Active Targeting and Twinfilin 1 Silencing to Reverse Paclitaxel Resistance in Brain Metastatic Breast Cancer., [RefSeq, PubMed]; TWF1 induces autophagy and accelerates malignant phenotype in lung adenocarcinoma via inhibiting the cAMP signaling pathway., [RefSeq, PubMed]; These data suggest that the association with an actin monomer induces a first-order conformational change within the twinfilin molecule., [RefSeq, PubMed]; This gene encodes twinfilin, an actin monomer-binding protein conserved from yeast to mammals. Studies of the mouse counterpart suggest that this protein may be an actin monomer-binding protein, and its localization to cortical G-actin-rich structures may be regulated by the small GTPase RAC1. [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": 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": "A8K5A8;B3KXS6;B4DLX9;Q59G07;Q5U0B1;Q6FHJ1;Q6FHL6;Q6NUK9;Q86XL6;Q8TCD3", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0003785 actin monomer binding;GO:0005524 ATP binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005884 actin filament;GO:0005911 cell-cell junction;GO:0005925 focal adhesion", "go_biological_process": "GO:0010976 positive regulation of neuron projection development;GO:0051016 barbed-end actin filament capping;GO:0010613 positive regulation of cardiac muscle hypertrophy;GO:0030837 negative regulation of actin filament polymerization;GO:0010591 regulation of lamellipodium assembly", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q12792-2", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CW01-1", "uniprot_id": "TSPYA_HUMAN", "mass": 35101.0, "length": 308, "protein_name": "Testis-specific Y-encoded protein 10", "gene_name": "TSPY10", "organism": "Human", "refseq_name": "testis-specific Y-encoded protein 3", "refseq_ac": "NP_001071165", "gene_names_uniprotkb": "TSPY10", "gene_names_refseq": "TSPY3", "protein_names_uniprotkb": "Testis-specific Y-encoded protein 10", "protein_names_refseq": "testis-specific Y-encoded protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:100289087); (hsa:728137)", "pathway_count": 2, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "May be involved in sperm differentiation and proliferation., [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:0003682 chromatin binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0006334 nucleosome assembly;GO:0007506 gonadal mesoderm development", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0CW01-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NHE4-1", "uniprot_id": "VA0E2_HUMAN", "mass": 9184.0, "length": 81, "protein_name": "V-type proton ATPase subunit e 2", "gene_name": "ATP6V0E2", "organism": "Human", "refseq_name": "V-type proton ATPase subunit e 2 isoform 2", "refseq_ac": "NP_001094062", "gene_names_uniprotkb": "ATP6V0E2; ATP6V0E2L; C7orf32", "gene_names_refseq": "ATP6V0E2L; ATP6V0E2; C7orf32", "protein_names_uniprotkb": "V-type proton ATPase subunit e 2; Lysosomal 9 kDa H(+)-transporting ATPase V0 subunit e2; V-ATPase subunit e 2; Vacuolar proton pump subunit e 2", "protein_names_refseq": "H+-ATPase e2 subunit; V-ATPase subunit e 2; V-ATPase subunit e1; V-type proton ATPase subunit e 2 isoform 2; V-type proton ATPase subunit e 2; lysosomal 9 kDa H(+)-transporting ATPase V0 subunit e2; vacuolar proton pump subunit e 2; vacuolar proton-ATPase subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:155066); (R-HSA-1222556); (R-HSA-77387); (R-HSA-917977); (R-HSA-9639288); (R-HSA-983712)", "pathway_count": 6, "publication_count": 91, "publication_id_list": "10.1101/2023.09.13.557529;10029572;10409623;10802645;11237011;11237855;11779865;11800564;11970843;12531241;15854902;15878852;16098514;16227996;16271887;16564538;16574064;16609065;16793765;17051221;17350184;17470430;17662945;17729390;18406720;18497260;18604198;18794901;19089323;19321446;20134026;20381137;21124855;22053050;22087256;22575674;22980980;23723238;24081491;24095279;25259925;25263562;25457612;25561175;25567906;25802875;25819761;26205815;26449471;26586190;26972053;27308486;27487210;27648300;28066558;28199306;28199315;28228285;2825632;2848506;29053970;29056322;29123071;29236692;29242379;29596046;2986535;30061680;30181260;30315122;30337524;3061785;30651352;31154438;31844290;32387766;34357683;35289036;37074911;6141558;6309857;7499430;7929063;7980580;8300632;8537108;8682206;8995282;9465039;9609117;9793760", "class_list": "", "function": "Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles, clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin granules. H(+)-ATPases are also found in plasma membranes of specialized cells, where they play roles in urinary acidification, bone resorption, and sperm maturation. Multiple subunits form H(+)-ATPases, with proteins of the V1 class hydrolyzing ATP for energy to transport H+, and proteins of the V0 class forming an integral membrane domain through which H+ is transported. ATP6V0E2 encodes an isoform of the H(+)-ATPase V0 e subunit, an essential proton pump component (Blake-Palmer et al., 2007 [PubMed 17350184]).[supplied by OMIM, Mar 2008]., [RefSeq]; Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity)., [UniProtKB, UniProtKB]; The identification of this novel form of the e-subunit lends further support to the hypothesis that subunit differences may play a key role in the structure, site and function of H(+)-ATPases within the cell.[ATPV0E2], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 3, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2T863;A2T8L7;B5MDP5;J3KQW7;Q6MZW1;Q75L47;Q7Z4R7;Q8N7I8", "ec_number_list": "", "go_molecular_function": "GO:0046961 proton-transporting ATPase activity, rotational mechanism;GO:0042625 ATPase-coupled ion transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane;GO:0005765 lysosomal membrane;GO:0030670 phagocytic vesicle membrane;GO:0010008 endosome membrane;GO:0030665 clathrin-coated vesicle membrane", "go_biological_process": "GO:0016241 regulation of macroautophagy;GO:0007035 vacuolar acidification;GO:1902600 proton transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q8NHE4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95388-1", "uniprot_id": "CCN4_HUMAN", "mass": 40331.0, "length": 367, "protein_name": "CCN family member 4", "gene_name": "CCN4", "organism": "Human", "refseq_name": "CCN family member 4 isoform 3 precursor", "refseq_ac": "NP_001191798", "gene_names_uniprotkb": "CCN4; WISP1", "gene_names_refseq": "CCN4; WISP1-OT1; WISP1-UT1; WISP1c; WISP1i; WISP1tc; WISP1", "protein_names_uniprotkb": "CCN family member 4; WISP-1; WNT1-inducible-signaling pathway protein 1; Wnt-1-induced secreted protein", "protein_names_refseq": "CCN family member 4 isoform 3 precursor; CCN family member 4; WISP1 3'UTR-associated RNA 1; WISP1 overlapping transcript 1 (non-protein coding); WNT1 induced secreted protein 1; WNT1 inducible signaling pathway protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8840)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10716946;11237011;11571650;11598131;11751417;11782444;30459171;34171305;36010968;37689312;38145300;38289593;38937782;39033550;9843955", "class_list": "", "function": "An overview of CCN4 (WISP1) role in human diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Downstream regulator in the Wnt/Frizzled-signaling pathway. Associated with cell survival. Attenuates p53-mediated apoptosis in response to DNA damage through activation of AKT kinase. Up-regulates the anti-apoptotic Bcl-X(L) protein. Adheres to skin and melanoma fibroblasts. In vitro binding to skin fibroblasts occurs through the proteoglycans, decorin and biglycan., [UniProtKB, PubMed, PubMed]; Effect of WISP1 on paraquat-induced EMT., [RefSeq, PubMed]; Elevated levels of connective tissue growth factor, WISP-1, and CYR61 in primary breast cancers associated with more advanced features., [RefSeq, PubMed]; Silencing of METTL3 prevents the proliferation, migration, epithelial-mesenchymal transition, and renal fibrosis of high glucose-induced HK2 cells by mediating WISP1 in m6A-dependent manner., [RefSeq, PubMed]; The TGF-beta1 target WISP1 is highly expressed in liver cirrhosis and cirrhotic HCC microenvironment and involved in pro- and anti-tumorigenic effects., [RefSeq, PubMed]; This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]., [RefSeq]; WISP1 induces the expression of macrophage migration inhibitory factor in human lung fibroblasts through Src kinases and EGFR-activated signaling pathways., [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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8KAG6;E7EMM5;Q5JBS6;Q5JBS7;Q5JBS8;Q9HCS3", "ec_number_list": "", "go_molecular_function": "GO:0005178 integrin binding;GO:0008201 heparin binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0031012 extracellular matrix", "go_biological_process": "GO:0030316 osteoclast differentiation;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0042593 glucose homeostasis", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "O95388-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NB14-1", "uniprot_id": "UBP38_HUMAN", "mass": 116546.0, "length": 1042, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 38", "gene_name": "USP38", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 38 isoform 2", "refseq_ac": "NP_001277254", "gene_names_uniprotkb": "USP38; KIAA1891", "gene_names_refseq": "HP43.8KD; USP38", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 38; 3.4.19.12; Deubiquitinating enzyme 38; HP43.8KD; Ubiquitin thioesterase 38; Ubiquitin-specific-processing protease 38", "protein_names_refseq": "deubiquitinating enzyme 38; ubiquitin carboxyl-terminal hydrolase 38 isoform 2; ubiquitin carboxyl-terminal hydrolase 38; ubiquitin specific protease 38; ubiquitin thioesterase 38; ubiquitin thiolesterase 38; ubiquitin-specific-processing protease 38", "tax_id": 9606, "disease": "", "pathway": " (hsa:84640)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "10931946;11237011;14715245;22689415;23481700;24397554;24715725;25418920;25502872;25576301;25880248;25892735;26154972;26375851;26768311;26811146;26992070;27600516;27692986;27846572;27862975;27920218;28218747;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;30315122;30429286;30497519;30779550;31154438;31222486;31530632;31844290;31848261;31874856;32157095;32161166;32265295;32357974;32387766;32404892;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34102342;34696459;35051231;35238669;35580925;36010968;36204976;37217939;37903290;38072059;38409551", "class_list": "", "function": "Deubiquitinating enzyme that plays a role in various cellular processes, including DNA repair, cell cycle regulation, and immune response (PubMed:22689415, PubMed:30497519, PubMed:31874856, PubMed:35238669). Plays a role in the inhibition of type I interferon signaling by mediating the 'Lys-33' to 'Lys-48' ubiquitination transition of TBK1 leading to its degradation (PubMed:27692986). Cleaves the ubiquitin chain from the histone demethylase LSD1/KDM1A and prevents it from degradation by the 26S proteasome, thus maintaining LSD1 protein level in cells (PubMed:30497519). Plays a role in the DNA damage response by regulating the deacetylase activity of HDAC1 (PubMed:31874856). Mechanistically, removes the 'Lys-63'-linked ubiquitin chain promoting the deacetylase activity of HDAC1 in response to DNA damage (PubMed:31874856). Also acts as a specific deubiquitinase of histone deacetylase 3/HDAC3 and cleaves its 'Lys-63'-linked ubiquitin chains to lower its histone deacetylase activity (PubMed:32404892). Regulates MYC levels and cell proliferation via antagonizing ubiquitin E3 ligase FBXW7 thereby preventing MYC 'Lys-48'-linked ubiquitination and degradation (PubMed:34102342). Participates in antiviral response by removing both 'Lys-48'-linked and 'Lys-63'-linked polyubiquitination of Zika virus envelope protein E (PubMed:34696459). Constitutively associated with IL-33R/IL1RL1, deconjugates its 'Lys-27'-linked polyubiquitination resulting in its autophagic degradation (PubMed:35238669)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Reciprocal regulation of IL-33 receptor-mediated inflammatory response and pulmonary fibrosis by TRAF6 and USP38., [RefSeq, PubMed]; USP38 inhibits colorectal cancer cell proliferation and migration via downregulating HMX3 ubiquitylation., [RefSeq, PubMed]; USP38 promotes deubiquitination of K11-linked polyubiquitination of HIF1alpha at Lys769 to enhance hypoxia signaling., [RefSeq, PubMed]; USP38 regulates inflammatory cardiac remodeling after myocardial infarction., [RefSeq, PubMed]; Ubiquitin specific peptidase 38 epigenetically regulates KLF transcription factor 5 to augment malignant progression of 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B3KX93;Q3ZCV1;Q8NDF5;Q96DK6;Q96PZ6;Q9BY55", "ec_number_list": "", "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0031647 regulation of protein stability;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0045824 negative regulation of innate immune response;GO:1990168 protein K33-linked deubiquitination", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q8NB14-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969D9-1", "uniprot_id": "TSLP_HUMAN", "mass": 18141.0, "length": 159, "protein_name": "Thymic stromal lymphopoietin", "gene_name": "TSLP", "organism": "Human", "refseq_name": "thymic stromal lymphopoietin isoform 1 precursor", "refseq_ac": "NP_149024", "gene_names_uniprotkb": "TSLP", "gene_names_refseq": "TSLP", "protein_names_uniprotkb": "Thymic stromal lymphopoietin", "protein_names_refseq": "thymic stroma-derived lymphopoietin; thymic stromal lymphopoietin isoform 1 precursor", "tax_id": 9606, "disease": "common cold (Disease Ontology:DOID:10459); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); cryoglobulinemia (Disease Ontology:DOID:2917); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); atopic dermatitis (Disease Ontology:DOID:3310); allergic rhinitis (Disease Ontology:DOID:4481); autoimmune hemolytic anemia (Disease Ontology:DOID:718)", "pathway": " (hsa:85480); (R-HSA-1266695)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "11237011;11418668;11480573;11564764;11728342;12184921;12889071;14593182;15353558;15749844;17242164;19864382;20146705;21105711;21772055;22464331;2317865;24417533;24850429;26301565;26974155;27423467;29139090;31918398;32938616;33592498;38557942;38630260;7489741;7514277;7719938;8128231;8266077;8702919;8709637;9233603;9398404;9553136;9715265", "class_list": "", "function": "Cytokine that induces the release of T-cell-attracting chemokines from monocytes and, in particular, enhances the maturation of CD11c(+) dendritic cells. Can induce allergic inflammation by directly activating mast cells., [UniProtKB, PubMed, PubMed, PubMed]; May act as an antimicrobial peptide in the oral cavity and on the skin., [UniProtKB, PubMed]; Relevance of Thymic Stromal Lymphopoietin on the Pathogenesis of Glioblastoma: Role of the Neutrophil. Erratum:[Cell Mol Neurobiol. 2024 Apr 22;44(1):37. doi: 10.1007/s10571-024-01479-0. PMID: 38647721] Publication Status: Online-Only, [RefSeq, PubMed]; Roles of Thymic stromal lymphopoietin in immunity. Review article, [RefSeq, PubMed]; TSLP induced the polarization of both microtubule and actin cytoskeletons and promoted dendritic cells 3-dimensional migration in transwell as well as in microfabricated channels that mimic the confined environment of peripheral tissues., [RefSeq, PubMed]; The role of thymic stromal lymphopoietin in cutaneous disorders. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The short protein isoform is expressed in keratinocytes of oral cavity, skin and salivary glands, and exhibits a markedly stronger antimicrobial activity compared to the longer isoform. TSLP displays antibacterial and antifungal activity against B. cereus, E. coli, E. faecalis, S. mitis, S. epidermidis, and C. albicans., [RefSeq, PubMed]; This gene encodes a hemopoietic cytokine proposed to signal through a heterodimeric receptor complex composed of the thymic stromal lymphopoietin receptor and the IL-7R alpha chain. It mainly impacts myeloid cells and induces the release of T cell-attracting chemokines from monocytes and enhances the maturation of CD11c(+) dendritic cells. The protein promotes T helper type 2 (TH2) cell responses that are associated with immunity in various inflammatory diseases, including asthma, allergic inflammation and chronic obstructive pulmonary disease. The protein is therefore considered a potential therapeutic target for the treatment of such diseases. In addition, the shorter (predominant) isoform is an antimicrobial protein, displaying antibacterial and antifungal activity against B. cereus, E. coli, E. faecalis, S. mitis, S. epidermidis, and C. albicans. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2020]., [RefSeq]; This protein is a hemopoietic cytokine that signals through a heterodimeric receptor complex consisting of the human TSLP receptor and the IL-7R alpha-chain., [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": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "G3XAM8;Q8IW99;Q96AU7", "ec_number_list": "", "go_molecular_function": "GO:0005139 interleukin-7 receptor binding;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0032736 positive regulation of interleukin-13 production;GO:0032754 positive regulation of interleukin-5 production;GO:0001961 positive regulation of cytokine-mediated signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q969D9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6A555-1", "uniprot_id": "TXND8_HUMAN", "mass": 14575.0, "length": 127, "protein_name": "Thioredoxin domain-containing protein 8", "gene_name": "TXNDC8", "organism": "Human", "refseq_name": "thioredoxin domain-containing protein 8 isoform a", "refseq_ac": "NP_001003936", "gene_names_uniprotkb": "TXNDC8; SPTRX3; TRX6", "gene_names_refseq": "SPTRX-3; SPTRX3; TRX6; TXNDC8; bA427L11.2", "protein_names_uniprotkb": "Thioredoxin domain-containing protein 8; Spermatid-specific thioredoxin-3; Sptrx-3; Thioredoxin-6", "protein_names_refseq": "sperm-specific thioredoxin 3; spermatocyte/spermatid-specific thioredoxin-3; thioredoxin 6; thioredoxin domain containing 8 (spermatozoa); thioredoxin domain-containing protein 8 isoform a; thioredoxin domain-containing protein 8", "tax_id": 9606, "disease": "male infertility (Disease Ontology:DOID:12336)", "pathway": " (hsa:255220)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;15181017;23734172;32851881;35051231", "class_list": "", "function": "Data indicate that the elevated semen content of SPTRX3/TXNDC8 from assisted reproductive therapy (ART) couples coincided with reduced incidence of pregnancy by in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI). Erratum:[PLoS One. 2013;8(10). doi:10.1371/annotation/5ec7a768-7129-460f-9290-57ae5d631dd9] Publication Status: Online-Only, [RefSeq, PubMed]; May be required for post-translational modifications of proteins required for acrosomal biogenesis. May act by reducing disulfide bonds within the sperm., [UniProtKB, UniProtKB, UniProtKB]; SPTRX3 is a novel Golgi apparatus-associated thioredoxin, and has a role in aberrant spermatogenesis, [RefSeq, PubMed]; Sperm content of TXNDC8 reflects sperm chromatin structure, pregnancy establishment, and incidence of multiple births after ART., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A1L4I2;A6NDK7;Q5T934", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0070062 extracellular exosome;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6A555-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15035-1", "uniprot_id": "TRAM2_HUMAN", "mass": 43328.0, "length": 370, "protein_name": "Translocating chain-associated membrane protein 2", "gene_name": "TRAM2", "organism": "Human", "refseq_name": "translocating chain-associated membrane protein 2", "refseq_ac": "NP_036420", "gene_names_uniprotkb": "TRAM2; KIAA0057", "gene_names_refseq": "TRAM2", "protein_names_uniprotkb": "Translocating chain-associated membrane protein 2", "protein_names_refseq": "TRAM-like protein; translocating chain-associated membrane protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9697)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "14749390;19664994;24715725;25418920;25576301;25645385;25892735;26154972;26992070;27499293;27846572;27920218;28228285;28649982;28832583;28834231;28904123;29242379;29508533;29557506;29769354;29786170;30429286;30779550;31154438;31222486;31530632;31844290;31848261;32157095;32161166;32387766;32488085;32938616;32983136;33298915;33514403;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34793833;34826698;35051231;35580925;36010968;36241641;36284347;38665916", "class_list": "glycogene", "function": "A comprehensive enhancer screen identifies TRAM2 as a key and novel mediator of YAP oncogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of TRAMs as sphingolipid-binding proteins using a photoactivatable and clickable short-chain ceramide analog., [RefSeq, PubMed]; Necessary for collagen type I synthesis. May couple the activity of the ER Ca(2+) pump SERCA2B with the activity of the translocon. This coupling may increase the local Ca(2+) concentration at the site of collagen synthesis, and a high Ca(2+) concentration may be necessary for the function of molecular chaperones involved in collagen folding. Required for proper insertion of the first transmembrane helix N-terminus of TM4SF20 into the ER lumen, may act as a ceramide sensor for regulated alternative translocation (RAT) (PubMed:27499293)., [UniProtKB, PubMed, PubMed]; TRAM2 is a component of the translocon, a gated macromolecular channel that controls the posttranslational processing of nascent secretory and membrane proteins at the endoplasmic reticulum (ER) membrane.[supplied by OMIM, Jul 2004]., [RefSeq]; TRAM2 promotes the malignant progression of glioma through PI3K/AKT/mTOR pathway., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 369, "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": "A8K6T6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0045048 protein insertion into ER membrane;GO:0032964 collagen biosynthetic process;GO:0006616 SRP-dependent cotranslational protein targeting to membrane, translocation", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q15035-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15388-1", "uniprot_id": "TOM20_HUMAN", "mass": 16298.0, "length": 145, "protein_name": "Mitochondrial import receptor subunit TOM20 homolog", "gene_name": "TOMM20", "organism": "Human", "refseq_name": "mitochondrial import receptor subunit TOM20 homolog", "refseq_ac": "NP_055580", "gene_names_uniprotkb": "TOMM20; KIAA0016", "gene_names_refseq": "MAS20; MOM19; TOM20; TOMM20", "protein_names_uniprotkb": "Mitochondrial import receptor subunit TOM20 homolog; Mitochondrial 20 kDa outer membrane protein; Outer mitochondrial membrane receptor Tom20", "protein_names_refseq": "mitochondrial 20 kDa outer membrane protein; mitochondrial import receptor subunit TOM20 homolog; outer mitochondrial membrane receptor Tom20; translocase of outer mitochondrial membrane 20 homolog type II", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); muscular atrophy (Disease Ontology:DOID:767)", "pathway": " (hsa:9804); (R-HSA-1268020); (R-HSA-5205685); (R-HSA-5689880)", "pathway_count": 4, "publication_count": 176, "publication_id_list": "10444327;10548729;10982817;11566882;11923872;12917689;12917691;14661020;14726512;15053880;15254020;15644312;15683237;15916963;16185709;16214042;16849325;16901786;16964248;17081983;17290220;17443180;17510655;17873522;17980597;17981138;18172164;18174896;18331822;18467330;18578522;18632802;18636086;18669648;18678864;18691976;19015242;19135894;19188362;19363159;19398555;19409522;19424180;19432818;19453276;19651622;19690332;19767391;19838211;19874889;19910467;19962426;20068231;20096447;20112406;20126261;20228808;20231292;20368735;20501646;20593814;20628368;20712405;21115803;21194381;21239494;21362556;21406692;21571647;21596315;21617041;21659512;21750375;21849505;21962518;22029577;22085928;22128162;22216260;23041349;23159851;23186163;23395819;23481700;23486064;23597483;23811401;23824326;23825189;24056413;24260525;24275569;24366607;24493797;24660806;24715725;24751536;24784582;24896179;25197364;25305019;25315652;25474007;25527497;25576301;25578727;25621951;25645385;25764979;25810538;26116755;26154972;26365381;26375851;26697887;27035970;27247382;27846572;27920218;28228285;28832583;29242379;29331515;29393594;29394115;29493099;29557506;29632046;29786170;29995846;30315122;31154438;31442208;31530632;31611695;31644573;31844290;31848261;31998317;32157095;32161166;32296703;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33936100;33968037;33981976;34171305;34357683;34509645;34932366;35051231;35251023;36010968;36241641;36284347;36857736;37480037;37563661;37938771;38287189;38416681;38599240;38848361;40080546;7498524;7578059;7589431", "class_list": "", "function": "AR antagonists develop drug resistance through TOMM20 autophagic degradation-promoted transformation to neuroendocrine prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Association of poly(rC)-binding protein-2 with sideroflexin-3 through TOM20 as an iron entry pathway to mitochondria., [RefSeq, PubMed]; Central receptor component of the translocase of the outer membrane of mitochondria (TOM) complex essential for the recognition and translocation of cytosolically synthesized mitochondrial preproteins (PubMed:40080546). Together with TOMM22 functions as the transit peptide receptor at the surface of the mitochondrion outer membrane and facilitates the movement of preproteins into the TOM40 translocation pore (PubMed:18331822). The TOM complex associates with the ion channel VDAC2 and PINK1 kinase at depolarized mitochondria, this interaction stabilizes PINK1 at the outer mitochondrial membrane and triggers downstream mitophagy by the recruitment of the E3 ubiquitin ligase PRKN (PubMed:40080546). Required for the translocation across the mitochondrial outer membrane of cytochrome P450 monooxygenases (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Iron induces B cell pyroptosis through Tom20-Bax-caspase-gasdermin E signaling to promote inflammation post-spinal cord injury. Publication Status: Online-Only, [RefSeq, PubMed]; TOMM20 as a Potential Prognostic Biomarker in Chordoma: Results From a High-Volume, Single-Center 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8K195;Q498B3;Q6IBT4", "ec_number_list": "", "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0015450 protein-transporting ATPase activity;GO:0030943 mitochondrion targeting sequence binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0044233 mitochondria-associated endoplasmic reticulum membrane contact site;GO:0071944 cell periphery;GO:0097225 sperm midpiece", "go_biological_process": "GO:0045040 protein insertion into mitochondrial outer membrane;GO:0006886 intracellular protein transport;GO:0006626 protein targeting to mitochondrion;GO:0030150 protein import into mitochondrial matrix;GO:0016031 tRNA import into mitochondrion", "synthesized_glycan_count": 0, "hit_score": 17.7, "record_id": "Q15388-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q309B1-1", "uniprot_id": "TR16L_HUMAN", "mass": 40306.0, "length": 348, "protein_name": "Tripartite motif-containing protein 16-like protein", "gene_name": "TRIM16L", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRIM16L; TRIM70", "gene_names_refseq": "", "protein_names_uniprotkb": "Tripartite motif-containing protein 16-like protein; Tripartite motif-containing protein 70", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "30484775", "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": "A0PK10;B2RUW6;B4DQK2;B4DWQ8", "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": "Q309B1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T2D2-1", "uniprot_id": "TRML2_HUMAN", "mass": 35127.0, "length": 321, "protein_name": "Trem-like transcript 2 protein", "gene_name": "TREML2", "organism": "Human", "refseq_name": "trem-like transcript 2 protein precursor", "refseq_ac": "NP_079083", "gene_names_uniprotkb": "TREML2; C6orf76; PRO20473; TLT2", "gene_names_refseq": "C6orf76; TLT-2; TLT2; TREML2; dJ238O23.1", "protein_names_uniprotkb": "Trem-like transcript 2 protein; TLT-2; Triggering receptor expressed on myeloid cells-like protein 2", "protein_names_refseq": "trem-like transcript 2 protein precursor; trem-like transcript 2 protein; triggering receptor expressed on myeloid cells-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79865); (R-HSA-198933)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "10499918;10746781;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12645956;12975309;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16670310;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;18650384;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24190977;24305946;25703557;25716998;26284469;26300885;28446606;29391424;29632711;31044564;31611695;32073739;32938616;33042115;33141586;33298915;33968037;36430248;37980675;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "A TREML2 missense variant influences specific hippocampal subfield volumes in cognitively normal elderly subjects., [RefSeq, PubMed]; Associations Between TREML2 Gene Variants and Alzheimer's Disease: Biomarkers, Neuroimage, and Cognition., [RefSeq, PubMed]; Cell surface receptor that may play a role in the innate and adaptive immune response. Acts as a counter-receptor for CD276 and interaction with CD276 on T-cells enhances T-cell activation., [UniProtKB, PubMed, PubMed]; Rs6915083 and rs7754593 of TREML2 were associated with acute liver allograft rejection., [RefSeq, PubMed]; TLT2 Suppresses Th1 Response by Promoting IL-6 Production in Monocyte Through JAK/STAT3 Signal Pathway in Tuberculosis. Publication Status: Online-Only, [RefSeq, PubMed]; TLT2 may be involved in the innate immune response based on its expression profile and the fact that it is up-regulated in response to inflammation., [RefSeq, PubMed]; TREML2 Gene Expression and Its Missense Variant rs3747742 Associate with White Matter Hyperintensity Volume and Alzheimer's Disease-Related Brain Atrophy in the General Population. Publication Status: Online-Only, [RefSeq, PubMed]; TREML2 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[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": 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": 8645, "biomarker_type": "", "glycan_count": 13, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q08AP8;Q08AP9;Q8IWY0;Q9H8E9", "ec_number_list": "", "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0042110 T cell activation", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q5T2D2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T6R2-1", "uniprot_id": "TPT2L_HUMAN", "mass": 15541.0, "length": 138, "protein_name": "Putative phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2P1", "gene_name": "TPTE2P1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TPTE2P1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2P1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "26992070;27543614", "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": "B3KST4;B4DMH9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q5T6R2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86WT1-1", "uniprot_id": "IT70A_HUMAN", "mass": 76136.0, "length": 665, "protein_name": "Intraflagellar transport protein 70A", "gene_name": "IFT70A", "organism": "Human", "refseq_name": "intraflagellar transport protein 70A", "refseq_ac": "NP_689488", "gene_names_uniprotkb": "IFT70A; TTC30A", "gene_names_refseq": "CFAP259; FAP259; IFT70A; TTC30A; TTC30B", "protein_names_uniprotkb": "Intraflagellar transport protein 70A; TPR repeat protein 30A; Tetratricopeptide repeat protein 30A", "protein_names_refseq": "TPR repeat protein 30A; TPR repeat protein 30B; Tetratricopeptide repeat protein 30B; intraflagellar transport protein 70A; tetratricopeptide repeat domain 30A; tetratricopeptide repeat protein 30A", "tax_id": 9606, "disease": "", "pathway": " (hsa:92104); (R-HSA-5620924)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "10069812;11285270;12795688;15231740;15269286;15489852;15523559;15955805;16049494;16435301;16492809;16775004;16782012;17312020;17314406;17574030;18180368;18304522;18364699;18369462;18852297;19112494;19147001;19253336;19384852;19450523;19720863;19805633;20435895;20526327;20526328;20530210;20889716;21427764;21936775;22118932;22922713;22992454;23481700;23945166;23990561;24140113;24296415;24596149;24616010;25205765;25349261;25443296;25576301;25645385;26375851;27846572;27893789;28228285;28832583;28904123;29242379;29393594;29557506;29632711;29786170;30315122;30429286;30779550;31154438;31844290;31848261;32357974;32488085;35494241;35580925;37938771;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "Required for polyglutamylation of axonemal tubulin. Plays a role in anterograde intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to the site of their incorporation at the tip., [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": 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": "A8K8N0;Q8IVP2", "ec_number_list": "", "go_molecular_function": "GO:0120170 intraciliary transport particle B binding", "go_cellular_component": "GO:0005879 axonemal microtubule;GO:0030992 intraciliary transport particle B", "go_biological_process": "GO:0042073 intraciliary transport", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q86WT1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86YW5-1", "uniprot_id": "TRML1_HUMAN", "mass": 32679.0, "length": 311, "protein_name": "Trem-like transcript 1 protein", "gene_name": "TREML1", "organism": "Human", "refseq_name": "trem-like transcript 1 protein isoform b precursor", "refseq_ac": "NP_001258736", "gene_names_uniprotkb": "TREML1; PRO3438; TLT1", "gene_names_refseq": "GLTL1825; PRO3438; TLT-1; TLT1; TREML1; dJ238O23.3", "protein_names_uniprotkb": "Trem-like transcript 1 protein; TLT-1; Triggering receptor expressed on myeloid cells-like protein 1", "protein_names_refseq": "trem-like transcript 1 protein isoform b precursor; trem-like transcript 1 protein; triggering receptor expressed on myeloid cells-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:340205); (R-HSA-198933)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10499918;10746781;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12393607;12483297;12588680;12645956;12975309;14719373;14970179;15034010;15100151;15128762;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16505478;16551255;16737824;16754721;16893496;16904340;16928187;16959974;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;20730098;21241660;21800138;21813449;21841309;21877119;22396535;23695528;23929856;24305946;25703557;25716998;26284469;26300885;28832583;29557506;30429286;30459171;31154438;32831023;33958244;35051231;35277419;35348422;37766406;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "A soluble fragment of the TLT-1 extracellular domain is found in serum of humans and mice and that an isoform of similar mass is released from platelets following activation with thrombin., [RefSeq, PubMed]; Cell surface receptor that may play a role in the innate and adaptive immune response., [UniProtKB, PubMed]; Decreased level of TREM like Transcript 1 (TLT-1) is associated with prematurity and promotes the in-utero inflammatory response to maternal lipopolysaccharide (LPS) exposure., [RefSeq, PubMed]; In contrast to previously characterized immunoreceptor tyrosine-based inhibition motif (ITIM) receptors, TLT1 enhances rather than inhibits calcium signaling in rat RBL-2H3 cells, a property dependent on the SHP-2 recruiting classical Tyr281 ITIM., [RefSeq, PubMed]; Initial characterization of TREM-like transcript (TLT)-1 results indicate it is likely that TLT-1 regulates the signaling of the TREM family receptors(TLT-1), [RefSeq, PubMed]; Low-soluble TREM-like transcript-1 levels early after severe burn reflect increased coagulation disorders and predict 30-day mortality., [RefSeq, PubMed]; P-selectin (CD62P) and soluble TREM-like transcript-1 (sTLT-1) are associated with coronary artery disease: a case control study. Publication Status: Online-Only, [RefSeq, PubMed]; TLT-1 Promotes Platelet-Monocyte Aggregate Formation to Induce IL-10-Producing B Cells in Tuberculosis., [RefSeq, PubMed]; This gene encodes a member of the triggering receptor expressed on myeloid cells-like (TREM) family. The encoded protein is a type 1 single Ig domain orphan receptor localized to the alpha-granule membranes of platelets. The encoded protein is involved in platelet aggregation, inflammation, and cellular activation and has been linked to Gray platelet syndrome. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]., [RefSeq]; Triggering receptor expressed on myeloid cells (TREM) like transcript-1 (TLT-1) reveals platelet activation in 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_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": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q496B3;Q8IWY1;Q8IWY2", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0031091 platelet alpha granule", "go_biological_process": "GO:0007165 signal transduction;GO:0019722 calcium-mediated signaling;GO:0045087 innate immune response;GO:0030168 platelet activation", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q86YW5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IWU9-1", "uniprot_id": "TPH2_HUMAN", "mass": 56057.0, "length": 490, "protein_name": "Tryptophan 5-hydroxylase 2", "gene_name": "TPH2", "organism": "Human", "refseq_name": "tryptophan 5-hydroxylase 2", "refseq_ac": "NP_775489", "gene_names_uniprotkb": "TPH2; NTPH", "gene_names_refseq": "ADHD7; NTPH; TPH2", "protein_names_uniprotkb": "Tryptophan 5-hydroxylase 2; 1.14.16.4; Neuronal tryptophan hydroxylase; Tryptophan 5-monooxygenase 2", "protein_names_refseq": "neuronal tryptophan hydroxylase; tryptophan 5-hydroxylase 2; tryptophan 5-monooxygenase 2", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); sleep apnea (Disease Ontology:DOID:0050847); autism spectrum disorder (Disease Ontology:DOID:0060041); traumatic brain injury (Disease Ontology:DOID:0081292); hypertension (Disease Ontology:DOID:10763); autistic disorder (Disease Ontology:DOID:12849); premature ejaculation (Disease Ontology:DOID:13709); major depressive disorder (Disease Ontology:DOID:1470); alcohol use disorder (Disease Ontology:DOID:1574); melancholic depression (Disease Ontology:DOID:1595); depressive disorder (Disease Ontology:DOID:1596); cystitis (Disease Ontology:DOID:1679); anxiety disorder (Disease Ontology:DOID:2030); post-traumatic stress disorder (Disease Ontology:DOID:2055); psychotic disorder (Disease Ontology:DOID:2468); bipolar disorder (Disease Ontology:DOID:3312); panic disorder (Disease Ontology:DOID:594); acute stress disorder (Disease Ontology:DOID:6088); premenstrual tension (Disease Ontology:DOID:727); subacute delirium (Disease Ontology:DOID:8645); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976); attention deficit-hyperactivity disorder, susceptibility to, 7 (MONDO:MONDO:0013076)", "pathway": " (hsa:121278); (R-HSA-209931)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "12379098;12511643;15052272;15124006;15167691;1540578;15629698;15663479;17287340;17727633;17905754;17973628;18339632;18347598;19319927;20126463;2590185;28411811;30379171;37104367;37161455;37423455;37608910;38093326;7989373;8661026", "class_list": "", "function": "A second tryptophan hydroxylase isoform described, [RefSeq, PubMed]; Clinical trial of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Complex behavioral phenotypes or as actual risk factors. Structural polymorphisms are extremely rare in TPH2 and cannot therefore act as substantial risk factors for behavioral disorders in African-American and Caucasian populations., [RefSeq, PubMed]; Influence of TPH2 and HTR1A polymorphisms on lifelong premature ejaculation risk among the chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; Interaction between childhood trauma experience and TPH2 rs7305115 gene polymorphism in brain gray matter volume. Publication Status: Online-Only, [RefSeq, PubMed]; Serotonergic modulation of normal and abnormal brain dynamics: The genetic influence of the TPH2 G-703T genotype and DNA methylation on wavelet variance in children and adolescents with and without ADHD. Publication Status: Online-Only, [RefSeq, PubMed]; Single-nucleotide polymorphism (SNP), haplotype and linkage disequlibrium studies were performed on depressed patients and healthy controls with 10 SNPs in the TPH2 gene. Significant association was detected between one SNP and major depression. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TPH2-703 G/T polymorphism is associated with stress, depression, and psychosocial symptoms in mentally healthy Mexicans., [RefSeq, PubMed]; This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 23, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NGA4;Q14CB0", "ec_number_list": "1.14.16.4", "go_molecular_function": "GO:0004510 tryptophan 5-monooxygenase activity;GO:0005506 iron ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0043005 neuron projection", "go_biological_process": "GO:0042427 serotonin biosynthetic process;GO:0009072 aromatic amino acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q8IWU9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IWZ4-1", "uniprot_id": "TRI48_HUMAN", "mass": 26409.0, "length": 224, "protein_name": "E3 ubiquitin-protein ligase TRIM48", "gene_name": "TRIM48", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM48", "refseq_ac": "NP_077019", "gene_names_uniprotkb": "TRIM48; RNF101", "gene_names_refseq": "RNF101; TRIM48", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM48; 2.3.2.27; RING finger protein 101; Tripartite motif-containing protein 48", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM48; RING finger protein 101; tripartite motif-containing protein 48", "tax_id": 9606, "disease": "", "pathway": " (hsa:79097); (R-HSA-877300)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10067896;10986460;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15388922;15530433;16237089;16467876;17125875;18362138;18591661;20049711;20130243;20304997;20363976;23061660;24417533;29186683;33239784;40609779;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9111318;9143706", "class_list": "", "function": "E3 ubiquitin-protein ligase which promotes K48-linked polyubiquitination of protein methyltransferase PRMT1, leading to PRMT1 degradation (PubMed:29186683). This suppresses methylation of the PRMT1 substrate MAP3K5/ASK1, promoting its activation and increasing MAP3K5-dependent cell death induced by oxidative stress (PubMed:29186683). TRIM48-mediated ubiquitination of PRMT1 also suppresses methylation of FOXO1 by PRMT1, leading to inhibition of FOXO1 transcriptional activity (PubMed:29186683). Additionally, it inhibits RIG-I-mediated antiviral signaling, functioning as an inducible negative feedback regulator of this pathway (PubMed:40609779)., [UniProtKB, PubMed, PubMed]; TRIM48 Promotes ASK1 Activation and Cell Death through Ubiquitination-Dependent Degradation of the ASK1-Negative Regulator PRMT1, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BUW4", "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:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045087 innate immune response;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q8IWZ4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PN7-1", "uniprot_id": "TREF1_HUMAN", "mass": 132256.0, "length": 1200, "protein_name": "Transcriptional-regulating factor 1", "gene_name": "TRERF1", "organism": "Human", "refseq_name": "transcriptional-regulating factor 1 isoform 1", "refseq_ac": "NP_001284502", "gene_names_uniprotkb": "TRERF1; BCAR2; RAPA; TREP132", "gene_names_refseq": "BCAR2; HSA277276; RAPA; TREP132; TRERF1; TReP-132; dJ139D8.5", "protein_names_uniprotkb": "Transcriptional-regulating factor 1; Breast cancer anti-estrogen resistance 2; Transcriptional-regulating protein 132; Zinc finger protein rapa; Zinc finger transcription factor TReP-132", "protein_names_refseq": "breast cancer anti-estrogen resistance 2; rapa-1; rapa-2; transcriptional regulating protein 132; transcriptional-regulating factor 1 isoform 1; zinc finger protein rapa; zinc finger transcription factor TReP-132", "tax_id": 9606, "disease": "", "pathway": " (hsa:55809)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;11349124;12101186;12530663;15302935;16371131;18351453;18669648;19608861;19664995;19690332;20068231;20628086;21406692;21573134;23186163;25576301;26992070;27920218;28218747;28514659;28832583;28904123;29242379;29393434;29557506;30315122;31844290;31848261;32157095;32357974;32387766;32488085;32938616;32983136;33298915;33968037;34087483;34171305;34509645;35051231;35494241;36010968;36241641", "class_list": "", "function": "Binds DNA and activates transcription of CYP11A1. Interaction with CREBBP and EP300 results in a synergistic transcriptional activation of CYP11A1., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; TReP-132 interacts with steroidogenic factor-1 (SF-1) through specific domains; and along with the interaction with CBP/p300 these factors are postulated to form a complex to regulate expression of the P450scc gene., [RefSeq, PubMed]; TReP-132 plays a role in regulating p450scc expression with steroidogenic factor-1 and CBP/p300, [RefSeq, PubMed]; The present study was the first to identify 2 novel, potentially 'diseasecausing' TRERF1 somatic mutations in the endometriotic lesions in 2 out of 92 patients with ovarian endometriosis; therefore, TRERF1 mutations may be involved in the pathogenesis of ovarian endometriosis., [RefSeq, PubMed]; This gene encodes a zinc-finger transcriptional regulating protein which interacts with CBP/p300 to regulate the human gene CYP11A1. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "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": "Q05GC6;Q7Z6T2;Q7Z6T3;Q9NQ72;Q9NQ73;Q9NUN9", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0033142 nuclear progesterone receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000118 histone deacetylase complex", "go_biological_process": "GO:0071393 cellular response to progesterone stimulus;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:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q96PN7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96RJ3-1", "uniprot_id": "TR13C_HUMAN", "mass": 18864.0, "length": 184, "protein_name": "Tumor necrosis factor receptor superfamily member 13C", "gene_name": "TNFRSF13C", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 13C", "refseq_ac": "NP_443177", "gene_names_uniprotkb": "TNFRSF13C; BAFFR; BR3", "gene_names_refseq": "BAFF-R; BAFFR; BROMIX; CD268; CVID4; TNFRSF13C; prolixin", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 13C; B-cell-activating factor receptor; BAFF receptor; BAFF-R; BLyS receptor 3", "protein_names_refseq": "B cell-activating factor receptor; BAFF receptor; BLyS receptor 3; tumor necrosis factor receptor superfamily member 13C", "tax_id": 9606, "disease": "common variable immunodeficiency 4 (Disease Ontology:DOID:0081147)", "pathway": " (hsa:115650); (R-HSA-5668541); (R-HSA-5676594)", "pathway_count": 3, "publication_count": 80, "publication_id_list": "10085077;10359578;10797013;11509692;11591325;11728344;11853672;12374738;12387744;12529173;12571250;12715002;12721620;12755599;12787562;15084608;15368291;15585864;15644327;15824857;16160919;16840730;17636564;18635759;18997792;18997794;19241374;19426221;19666484;19815541;20385556;20483727;21081755;21091114;23667509;24248355;24298274;24366607;24432023;24715725;25152365;25502872;26097183;26154972;28218747;28514659;28832583;28904123;29242379;29437277;29557506;29632711;29789417;30315122;30459171;31217245;31844290;32502341;33141586;33298915;33936100;34211107;34357683;35051231;35563492;35580925;35767961;36308663;36794867;37460408;7544915;7639698;8521496;8663299;8702708;9122217;9247583;9367155;9718306;9852070", "class_list": "", "function": "B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in serum. Therefore, it has been proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by enhancing the survival of autoreactive B cells. The protein encoded by this gene is a receptor for BAFF and is a type III transmembrane protein containing a single extracellular cysteine-rich domain. It is thought that this receptor is the principal receptor required for BAFF-mediated mature B-cell survival. [provided by RefSeq, Jul 2008]., [RefSeq]; B-cell receptor specific for TNFSF13B/TALL1/BAFF/BLyS. Promotes the survival of mature B-cells and the B-cell response., [UniProtKB, PubMed, PubMed]; BAFFR activates PI3K/AKT signaling in human naive but not in switched memory B cells through direct interactions with B cell antigen receptors., [RefSeq, PubMed]; BAFFR expression in circulating T follicular helper (CD4[+]CXCR5[+]PD-1[+]) and T peripheral helper (CD4[+]CXCR5[-]PD-1[+]) cells in systemic lupus erythematosus., [RefSeq, PubMed]; CVID-Associated B Cell Activating Factor Receptor Variants Change Receptor Oligomerization, Ligand Binding, and Signaling Responses., [RefSeq, PubMed]; Decreased BAFF Receptor Expression and Unaltered B Cell Receptor Signaling in Circulating B Cells from Primary Sjogren's Syndrome Patients at Diagnosis. Publication Status: Online-Only, [RefSeq, PubMed]; Features of BAFF and APRIL receptors on circulating B cells in antineutrophil cytoplasmic antibody-associated vasculitis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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": 0, "reported_mutagensis": 4, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0031295 T cell costimulation;GO:0030890 positive regulation of B cell proliferation;GO:0002250 adaptive immune response;GO:0042102 positive regulation of T cell proliferation;GO:0033209 tumor necrosis factor-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q96RJ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H489-1", "uniprot_id": "TSY26_HUMAN", "mass": 39573.0, "length": 355, "protein_name": "Putative testis-specific Y-encoded-like protein 3", "gene_name": "TSPY26P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TSPY26P; TSPYL3", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative testis-specific Y-encoded-like protein 3; TSPY-like protein 3; Testis-specific Y-encoded protein 26 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 9, "publication_id_list": "25892735;27846572;28904123;29557506;29769354;30429286;31844290;32265295;32387766", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3MJ63;Q3MJ65", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006334 nucleosome assembly", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9H489-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NP99-1", "uniprot_id": "TREM1_HUMAN", "mass": 26387.0, "length": 234, "protein_name": "Triggering receptor expressed on myeloid cells 1", "gene_name": "TREM1", "organism": "Human", "refseq_name": "triggering receptor expressed on myeloid cells 1 isoform 2 precursor", "refseq_ac": "NP_001229518", "gene_names_uniprotkb": "TREM1", "gene_names_refseq": "CD354; TREM-1; TREM1", "protein_names_uniprotkb": "Triggering receptor expressed on myeloid cells 1; TREM-1; Triggering receptor expressed on monocytes 1", "protein_names_refseq": "triggering receptor expressed on monocytes 1; triggering receptor expressed on myeloid cells 1 isoform 2 precursor", "tax_id": 9606, "disease": "bacterial sepsis (Disease Ontology:DOID:0040085); chorioamnionitis (Disease Ontology:DOID:0050697); malaria (Disease Ontology:DOID:12365); mesenteric vascular occlusion (Disease Ontology:DOID:13252); toxic shock syndrome (Disease Ontology:DOID:14115); depressive disorder (Disease Ontology:DOID:1596); hepatitis C (Disease Ontology:DOID:1883); hepatitis B (Disease Ontology:DOID:2043); acute pancreatitis (Disease Ontology:DOID:2913); pulmonary tuberculosis (Disease Ontology:DOID:2957); middle cerebral artery infarction (Disease Ontology:DOID:3525); pleural empyema (Disease Ontology:DOID:3798); bacterial gastritis (Disease Ontology:DOID:4033); melioidosis (Disease Ontology:DOID:5052); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); rheumatoid arthritis (Disease Ontology:DOID:7148); periodontitis (Disease Ontology:DOID:824); bacterial pneumonia (Disease Ontology:DOID:874); amyloidosis (Disease Ontology:DOID:9120); bacterial meningitis (Disease Ontology:DOID:9470)", "pathway": " (hsa:54210); (R-HSA-198933); (R-HSA-202733); (R-HSA-2172127)", "pathway_count": 4, "publication_count": 187, "publication_id_list": "10049942;10449773;10499918;10604985;10606205;10746781;10764623;10799849;10940905;11207550;11237011;11256994;11265639;11323674;11489943;11513152;11556966;11564780;11602640;11779189;11807247;11812992;11857637;11858820;11861603;11922939;11955593;11955595;11955599;12070135;12208882;12213321;12469115;12483297;12588680;12645956;12668644;12776204;12782713;14529530;14615387;14656437;14707061;14719373;14970179;15000751;15034010;15136729;15155468;15187158;15265913;15304001;15351648;15528364;15534202;15541655;15557162;15580655;15607800;15681301;15721307;15778510;15781451;15800062;15851719;15864273;15884055;1591491;15940674;16014749;16091383;16129954;16258728;16297198;16339513;16380601;16551255;16585556;16623599;16691243;16737824;16737840;16754721;16783819;16893496;16904340;16920917;16928187;16933987;16959974;17012248;17045824;17057721;17064312;17098818;17099249;17110943;17116209;17167768;17172599;17202323;17237375;17322099;17337780;17379836;17442946;17452516;17483134;17505016;17525755;17563375;17568691;17580308;17600130;17615384;17625065;17641029;18031695;18037897;18055229;18209062;18234675;18593354;18624290;18629938;19149696;19279206;19359216;19592130;19858347;20093094;20730098;20865034;20890284;21193412;21241660;21393102;21659545;21659548;21800138;21841309;21877119;22396535;23695528;23929856;23945545;24043627;24305946;24764293;2538457;25595774;25703557;25716998;26284469;26300885;26561551;29568119;31154438;38370418;38479552;38577193;38749377;38954352;468991;7509040;7521878;7531291;7542404;8163559;8166770;8178173;8314844;8995416;9052782;9169774;9242610;9285412;9295288;9314561;9382878;9490415;9625766;9655483;9693095;9700512;9730896;9763524", "class_list": "", "function": "Acts as a decoy receptor, counterbalancing TREM1 pro-inflammatory activity through the neutralization of its ligand., [UniProtKB, PubMed]; Cell surface receptor that plays important roles in innate and adaptive immunity by amplifying inflammatory responses (PubMed:10799849, PubMed:21393102). Upon activation by various ligands such as PGLYRP1, HMGB1 or HSP70, multimerizes and forms a complex with transmembrane adapter TYROBP/DAP12 (PubMed:17568691, PubMed:25595774, PubMed:29568119). In turn, initiates a SYK-mediated cascade of tyrosine phosphorylation, activating multiple downstream mediators such as BTK, MAPK1, MAPK3 or phospholipase C-gamma (PubMed:14656437, PubMed:21659545). This cascade promotes the neutrophil- and macrophage-mediated release of pro-inflammatory cytokines and/or chemokines, as well as their migration and thereby amplifies inflammatory responses that are triggered by bacterial and fungal infections (PubMed:17098818, PubMed:17568691). By also promoting the amplification of inflammatory signals that are initially triggered by Toll-like receptor (TLR) and NOD-like receptor engagement, plays a major role in the pathophysiology of acute and chronic inflammatory diseases of different etiologies including septic shock and atherosclerosis (PubMed:11323674, PubMed:21393102)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Hypoxia-induced TREM1 promotes mesenchymal-like states of glioma stem cells via alternatively activating tumor-associated macrophages., [RefSeq, PubMed]; Molecular and immunological features of TREM1 and its emergence as a prognostic indicator in glioma. Publication Status: Online-Only, [RefSeq, PubMed]; Pharmacological Inhibition or Silencing of TREM1 Restrains HCC Cell Metastasis by Inactivating TLR/PI3K/AKT Signaling., [RefSeq, PubMed]; STREM-1 as promising prognostic biomarker for acute-on-chronic liver failure and mortality in patients with acute decompensation of cirrhosis., [RefSeq, PubMed]; TREM1: Activation, signaling, cancer and therapy. Review article, [RefSeq, PubMed]; The human TREM gene cluster at 6p21.1 encodes both activating and inhibitory single IgV domain receptors and includes TREM1., [RefSeq, PubMed]; This gene encodes a receptor belonging to the Ig superfamily that is expressed on myeloid cells. This protein amplifies neutrophil and monocyte-mediated inflammatory responses triggered by bacterial and fungal infections by stimulating release of pro-inflammatory chemokines and cytokines, as well as increased surface expression of cell activation markers. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 22, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DWG2;K7EJW1;Q53FL8;Q5T2C9;Q86YU1", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0097110 scaffold protein binding;GO:0038023 signaling receptor activity;GO:0140319 receptor decoy activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0070945 neutrophil-mediated killing of gram-negative bacterium;GO:0035556 intracellular signal transduction;GO:0045087 innate immune response;GO:0002250 adaptive immune response;GO:0006959 humoral immune response", "synthesized_glycan_count": 0, "hit_score": 18.8, "record_id": "Q9NP99-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UET6-1", "uniprot_id": "TRM7_HUMAN", "mass": 36079.0, "length": 329, "protein_name": "tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase", "gene_name": "FTSJ1", "organism": "Human", "refseq_name": "tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform c", "refseq_ac": "NP_001269086", "gene_names_uniprotkb": "FTSJ1; JM23", "gene_names_refseq": "CDLIV; FTSJ1; JM23; MRX44; MRX9; SPB1; TRMT7; XLID9", "protein_names_uniprotkb": "tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase; 2'-O-ribose RNA methyltransferase TRM7 homolog; 2.1.1.205; Protein ftsJ homolog 1", "protein_names_refseq": "2'-O-ribose RNA methyltransferase TRM7 homolog; FtsJ RNA methyltransferase homolog 1; FtsJ-like protein 1; cell division protein; putative ribosomal RNA methyltransferase 1; putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase; rRNA (uridine-2'-O-)-methyltransferase; tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform c; tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase; tRNA methyltransferase 7 homolog", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability (Disease Ontology:DOID:0050776); non-syndromic X-linked intellectual disability 9 (Disease Ontology:DOID:0112034)", "pathway": " (hsa:24140); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 110, "publication_id_list": "10430867;10648622;10982862;11027153;11111046;12403464;15162322;15342698;15861136;15870694;15994936;16043508;16424344;17071714;18081026;18401546;18567810;18669648;18691976;19012053;19017811;19413330;19414587;20068231;20123966;20308323;20354154;20584901;21059936;21131277;22344696;22591353;22645359;22995836;23042678;23048041;23186163;23381944;23481700;23604283;24126054;24204302;24714562;24715725;24901367;25261850;25404562;25418920;25576301;25645385;25916855;26024233;26160102;26310293;26375851;26768311;26992070;27055666;27846572;28904123;29371260;29437277;29493099;29557506;30410026;30429286;30557699;30779550;31154438;31217245;31481669;31844290;32157095;32198346;32357974;32387766;32393790;32488085;32558197;32897882;32938616;32983136;33123756;33141586;33298915;33537174;33592498;33633747;33717175;33771871;33912179;33936100;33968037;34087483;34171305;34185709;34932366;35051231;35254053;35318648;35580925;36010968;36241641;36284347;36610787;36720500;37938771;40596516;9430663;9851972", "class_list": "", "function": "FTSJ1 regulates tRNA 2'-O-methyladenosine modification and suppresses the malignancy of NSCLC via inhibiting DRAM1 expression. Erratum:[Cell Death Dis. 2020 Jun 3;11(6):418. doi: 10.1038/s41419-020-2623-9. PMID: 32488007] Publication Status: Online-Only, [RefSeq, PubMed]; Intellectual disability-associated gene ftsj1 is responsible for 2'-O-methylation of specific tRNAs., [RefSeq, PubMed]; Methylates the 2'-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs (PubMed:25404562, PubMed:26310293, PubMed:32198346, PubMed:32558197, PubMed:33771871, PubMed:36720500). Requisite for faithful cytoplasmic translation (PubMed:32393790). Requires THADA for methylation of the nucleotide at position 32 of the anticodon loop of substrate tRNAs (PubMed:25404562, PubMed:26310293). Requires WDR6 for methylation of the nucleotide at position 34 of the anticodon loop of substrate tRNAs (PubMed:32558197, PubMed:33771871). Promotes translation efficiency of the UUU codon (PubMed:32558197). Plays a role in neurogenesis (PubMed:36720500). Required for expression of genes involved in neurogenesis, mitochondrial translation and energy generation, and lipid biosynthesis (PubMed:33771871, PubMed:36720500). Requisite for RNA-mediated gene silencing (PubMed:36720500). May modify position 32 in tRNA(Arg(ACG)), tRNA(Arg(CCG)), tRNA(Arg(UCG)), tRNA(Cys(GCA)), tRNA(Cys(ACA)), tRNA(Gln(CUG)), tRNA(Gln(UUG)), tRNA(Gly(CCC)), tRNA(Leu(CAG))/tRNA(Leu(CAA)), tRNA(Leu(A/IAG)), tRNA(Leu(UAG)), tRNA(Phe(GAA)), tRNA(Pro(AGG))/tRNA(Pro(CGG))/tRNA(Pro(UGG)) and tRNA(Trp(CCA)), and position 34 in tRNA(Phe(GAA)), tRNA(Leu(CAA)), tRNA(Sec(UCA)), and tRNA(Trp(CCA)) (PubMed:26310293, PubMed:32198346, PubMed:32558197, PubMed:33771871, PubMed:36720500)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mutations in the Ftsj1 gene is associated with intellectual disability., [RefSeq, PubMed]; Spb1p is a homologous yeast nucleolar protein, [RefSeq, PubMed]; The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the methyltransferase superfamily. The encoded protein localizes to the nucleolus, binds to S-adenosylmethionine, and may be involved in the processing and modification of ribosomal RNA. Mutations in this gene are associated with cognitive disability. 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": 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": "B2RCJ0;O75670", "ec_number_list": "2.1.1.205", "go_molecular_function": "GO:0008175 tRNA methyltransferase activity;GO:0016423 tRNA (guanine) methyltransferase activity;GO:0106050 tRNA 2'-O-methyltransferase activity;GO:1904047 S-adenosyl-L-methionine binding;GO:0106339 tRNA (cytidine(32)-2'-O)-methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0002128 tRNA nucleoside ribose methylation;GO:0006400 tRNA modification;GO:0030488 tRNA methylation;GO:0022008 neurogenesis;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q9UET6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UJA5-1", "uniprot_id": "TRM6_HUMAN", "mass": 55799.0, "length": 497, "protein_name": "tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6", "gene_name": "TRMT6", "organism": "Human", "refseq_name": "tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6 isoform 2", "refseq_ac": "NP_001268396", "gene_names_uniprotkb": "TRMT6; CGI-09; KIAA1153; TRM6", "gene_names_refseq": "CGI-09; GCD10; Gcd10p; TRM6; TRMT6", "protein_names_uniprotkb": "tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6; mRNA methyladenosine-N(1)-methyltransferase non-catalytic subunit TRM6; tRNA(m1A58)-methyltransferase subunit TRM6; tRNA(m1A58)MTase subunit TRM6", "protein_names_refseq": "mRNA methyladenosine-N(1)-methyltransferase non-catalytic subunit TRM6; tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6 isoform 2; tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6; tRNA methyltransferase 6 homolog; tRNA(m1A58)MTase subunit TRM6", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:51605); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 126, "publication_id_list": "10430867;10982862;11027153;11111046;12403464;15861136;15870694;15994936;16043508;16424344;17071714;17525332;18077418;18567810;19017811;19414587;20068231;20123966;20308323;20354154;20584901;21059936;21131277;22344696;22424782;22544926;22591353;22995836;23042678;23048041;23186163;23381944;23481700;23604283;24126054;24204302;24715725;24901367;25261850;25404562;25418920;25576301;25645385;25810538;25880248;25892735;25916855;26154972;26160102;26310293;26375851;26470919;26929215;26992070;27055666;27397612;27600516;27846572;27862975;27920218;28218747;28228285;28649982;28832583;28904123;29072297;29107537;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30779550;31154438;31217245;31222486;31481669;31844290;31848261;31937595;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34171305;34405274;34509645;34561969;34728628;34932366;35051231;35580925;36010968;36241641;36284347;36610787;37217939;37473973;37850543;37938771;39302247;40914422;9430663;9851972", "class_list": "", "function": "Identification of hepatoblastoma susceptibility loci in the TRMT6 gene from a seven-center case-control study., [RefSeq, PubMed]; N(1)-methyladenosine methylation in tRNA drives liver tumourigenesis by regulating cholesterol metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate-binding subunit of tRNA (adenine-N(1)-)-methyltransferase, which catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in initiator methionyl-tRNA (PubMed:16043508). Together with the TRMT61A catalytic subunit, part of a mRNA N(1)-methyltransferase complex that mediates methylation of adenosine residues at the N(1) position of a small subset of mRNAs: N(1) methylation takes place in tRNA T-loop-like structures of mRNAs and is only present at low stoichiometries (PubMed:29072297, PubMed:29107537)., [UniProtKB, PubMed, PubMed, PubMed]; TRMT6 gene rs236110 C > A polymorphism increases the risk of Wilms tumor., [RefSeq, PubMed]; This gene encodes a member of the tRNA methyltransferase 6 protein family. A similar protein in yeast is part of a two component methyltransferase, which is involved in the posttranslational modification that produces the modified nucleoside 1-methyladenosine in tRNAs. Modified 1-methyladenosine influences initiator methionine stability and may be involved in the replication of human immunodeficiency virus type 1. Alternative splicing results in multiple transcript variants. [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": 8, "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": "B4DUV6;Q76P92;Q9BQV5;Q9ULR7;Q9Y2Z8", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031515 tRNA (m1A) methyltransferase complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0030488 tRNA methylation", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q9UJA5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UL62-1", "uniprot_id": "TRPC5_HUMAN", "mass": 111412.0, "length": 973, "protein_name": "Short transient receptor potential channel 5", "gene_name": "TRPC5", "organism": "Human", "refseq_name": "short transient receptor potential channel 5", "refseq_ac": "NP_036603", "gene_names_uniprotkb": "TRPC5; TRP5", "gene_names_refseq": "PPP1R159; TRP5; TRPC5", "protein_names_uniprotkb": "Short transient receptor potential channel 5; TRP-5; Transient receptor protein 5; TrpC5; hTRP-5; hTRP5", "protein_names_refseq": "TRP-5; hTRP5; protein phosphatase 1, regulatory subunit 159; short transient receptor potential channel 5; transient receptor potential channel 5; transient receptor protein 5", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); autism spectrum disorder (Disease Ontology:DOID:0060041); dilated cardiomyopathy 1H (Disease Ontology:DOID:0110429); neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:7224); (R-HSA-3295583); (R-HSA-418890)", "pathway_count": 3, "publication_count": 36, "publication_id_list": "10.1101/2023.09.13.557529;10493832;11050376;11226139;11243859;11301059;12015988;12032305;1422598;14634208;15757897;15895247;16284075;16883570;17850865;20025796;20164195;20716668;23033978;25389312;25418920;25765567;25855297;26929215;29769354;33214551;33592498;33912179;35051231;37137991;37278959;38253038;38959890;39178948;39363236;9687496", "class_list": "", "function": "Dynamic remodeling of TRPC5 channel-caveolin-1-eNOS protein assembly potentiates the positive feedback interaction between Ca[2+] and NO signals., [RefSeq, PubMed]; Forms a receptor-activated non-selective calcium permeant cation channel (PubMed:16284075, PubMed:38959890, PubMed:37137991). Mediates calcium-dependent phosphatidylserine externalization and apoptosis in neurons via its association with PLSCR1 (By similarity). Acts on distinct neuronal populations in the hypothalamus to regulate innate behaviors including feeding, anxiety (flight/fight/fear), socialization, and maternal care (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; MiR-138-5p Inhibits Thyroid Cancer Cell Growth and Stemness by Targeting TRPC5/Wnt/beta-Catenin Pathway., [RefSeq, PubMed]; Thermosensing ability of TRPC5: current knowledge and unsettled questions. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the transient receptor family. It encodes one of the seven mammalian TRPC (transient receptor potential channel) proteins. The encoded protein is a multi-pass membrane protein and is thought to form a receptor-activated non-selective calcium permeant cation channel. The protein is active alone or as a heteromultimeric assembly with TRPC1, TRPC3, and TRPC4. It also interacts with multiple proteins including calmodulin, CABP1, enkurin, Na(+)-H+ exchange regulatory factor (NHERF ), interferon-induced GTP-binding protein (MX1), ring finger protein 24 (RNF24), and SEC14 domain and spectrin repeat-containing protein 1 (SESTD1). [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": 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": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2RP53;O75233;Q5JXY8;Q9Y514", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0070679 inositol 1,4,5 trisphosphate binding;GO:0003779 actin binding;GO:0005262 calcium channel activity;GO:0046872 metal ion binding;GO:0051117 ATPase binding", "go_cellular_component": "GO:0034703 cation channel complex;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0030426 growth cone;GO:0043025 neuronal cell body", "go_biological_process": "GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007399 nervous system development;GO:0008284 positive regulation of cell population proliferation;GO:0045666 positive regulation of neuron differentiation;GO:0051402 neuron apoptotic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9UL62-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15361-1", "uniprot_id": "TTF1_HUMAN", "mass": 103051.0, "length": 905, "protein_name": "Transcription termination factor 1", "gene_name": "TTF1", "organism": "Human", "refseq_name": "transcription termination factor 1 isoform 2", "refseq_ac": "NP_001192225", "gene_names_uniprotkb": "TTF1", "gene_names_refseq": "TTF-1; TTF-I; TTF1", "protein_names_uniprotkb": "Transcription termination factor 1; RNA polymerase I termination factor; TTF-1; TTF-I; Transcription termination factor I", "protein_names_refseq": "transcription termination factor 1 isoform 2; transcription termination factor, RNA polymerase I", "tax_id": 9606, "disease": "", "pathway": " (hsa:7270); (R-HSA-427389); (R-HSA-427413); (R-HSA-5683826); (R-HSA-73762); (R-HSA-73863)", "pathway_count": 6, "publication_count": 137, "publication_id_list": "10.1101/2023.09.13.557529;10082553;10368295;10471499;10485905;10496952;10580105;10625644;10913176;11237011;11250901;11278984;11563989;12185598;12393749;12419226;12882447;1325798;1339284;1415726;14610093;1547496;1568474;15926889;16006481;16186106;16199866;1636732;16423266;16565220;16630564;17081983;17318177;17355984;17496061;17525332;18020944;18452278;18656484;18669648;18692472;18767875;1898081;19007248;19100526;19144824;1928448;19413330;19651622;19690332;19691289;19824815;19838300;20054143;20068231;20147294;20338813;20418254;20513429;21406692;22645359;22684280;22805593;23069847;23186163;23481700;23590306;23684610;23922714;24275569;24715725;24743970;2515193;25424900;25505266;25576301;25645385;2587265;25916849;26036188;2610270;26154972;26375851;26992070;27418187;27418309;27846572;27920218;2805069;28228285;28832583;28834231;28904123;29393594;29493099;29508533;29557506;29632046;29632711;29789417;2995821;30315122;3037072;31217245;31844290;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;33141586;3366248;33717175;33936100;33968037;34142952;34631;34871801;34932366;35051231;35580925;36241641;3755136;3801783;7491500;7597036;7801123;8314870;8428971;8522976;8527267;8636114;9582279;9813380", "class_list": "", "function": "Depletion of TTF-I recapitulates the effects of ARF on ribosomal RNA synthesis and is rescued by the introduction of a TTF-I transgene., [RefSeq, PubMed]; Exploring immunoreactivity of TTF-1 and AVP in hypothalamic hamartoma., [RefSeq, PubMed]; Multifunctional nucleolar protein that terminates ribosomal gene transcription, mediates replication fork arrest and regulates RNA polymerase I transcription on chromatin. Plays a dual role in rDNA regulation, being involved in both activation and silencing of rDNA transcription. Interaction with BAZ2A/TIP5 recovers DNA-binding activity., [UniProtKB, UniProtKB, PubMed]; Overexpression of Transcription Termination Factor 1 is Associated with Colorectal Cancer, [RefSeq, PubMed]; TTF-1: A Well-Favored Addition to the Immunohistochemistry Armamentarium as a Diagnostic Marker of SEGA., [RefSeq, PubMed]; This gene encodes a transcription termination factor that is localized to the nucleolus and plays a critical role in ribosomal gene transcription. The encoded protein mediates the termination of RNA polymerase I transcription by binding to Sal box terminator elements downstream of pre-rRNA coding regions. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene shares the symbol/alias 'TFF1' with another gene, NK2 homeobox 1, also known as thyroid transcription factor 1, which plays a role in the regulation of thyroid-specific gene expression. [provided by RefSeq, Apr 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "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": "A1L160;Q4VXF3;Q58EY2;Q6P5T5", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0001650 fibrillar center", "go_biological_process": "GO:0006353 DNA-templated transcription termination;GO:0008156 negative regulation of DNA replication;GO:0006363 termination of RNA polymerase I transcription", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "Q15361-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43657-1", "uniprot_id": "TSN6_HUMAN", "mass": 27563.0, "length": 245, "protein_name": "Tetraspanin-6", "gene_name": "TSPAN6", "organism": "Human", "refseq_name": "tetraspanin-6 isoform d", "refseq_ac": "NP_001265672", "gene_names_uniprotkb": "TSPAN6; PRO1560; TM4SF6", "gene_names_refseq": "T245; TM4SF6; TSPAN-6; TSPAN6", "protein_names_uniprotkb": "Tetraspanin-6; A15 homolog; Putative NF-kappa-B-activating protein 321; T245 protein; Tetraspanin TM4-D; Transmembrane 4 superfamily member 6; Tspan-6", "protein_names_refseq": "A15 homolog; putative NF-kappa-B-activating protein 321; tetraspan TM4SF; tetraspanin TM4-D; tetraspanin-6 isoform d; transmembrane 4 superfamily member 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:7105)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12761501;12975309;22908223;23090970;24190977;28510447;29557506;33592498;34521767;35184157;36010968;36284347;37074911;38725860;39031113;9714763;9782095", "class_list": "", "function": "New insights into the role of tetraspanin 6, 7, and 8 in physiology and pathology. Review article, [RefSeq, PubMed]; TSPAN6 functions as a negative regulator of the RLR pathway by interacting with MAVS in a ubiquitination-dependent manner., [RefSeq, PubMed]; TSPAN6 is a suppressor of Ras-driven cancer. Erratum:[Oncogene. 2022 Apr;41(14):2138. doi: 10.1038/s41388-022-02265-2. PMID: 35292775], [RefSeq, PubMed]; TSPAN6 reinforces the malignant progression of glioblastoma via interacting with CDK5RAP3 and regulating STAT3 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Tetraspanin 6 is a regulator of carcinogenesis in colorectal cancer., [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 protein encoded by this gene is a cell surface glycoprotein and is highly similar in sequence to the transmembrane 4 superfamily member 2 protein. It functions as a negative regulator of retinoic acid-inducible gene I-like receptor-mediated immune signaling via its interaction with the mitochondrial antiviral signaling-centered signalosome. This gene uses alternative polyadenylation sites, and multiple transcript variants result from alternative splicing. [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": 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": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q54A42;Q6IAN9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0016020 membrane", "go_biological_process": "GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0043124 negative regulation of canonical NF-kappaB signal transduction;GO:0039532 negative regulation of cytoplasmic pattern recognition receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "O43657-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q70EK9-1", "uniprot_id": "UBP51_HUMAN", "mass": 79756.0, "length": 711, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 51", "gene_name": "USP51", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 51", "refseq_ac": "NP_958443", "gene_names_uniprotkb": "USP51", "gene_names_refseq": "USP51", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 51; 3.4.19.12; Deubiquitinating enzyme 51; Ubiquitin thioesterase 51; Ubiquitin-specific-processing protease 51", "protein_names_refseq": "deubiquitinating enzyme 51; ubiquitin carboxyl-terminal hydrolase 51; ubiquitin thioesterase 51; ubiquitin thiolesterase 51; ubiquitin-specific-processing protease 51", "tax_id": 9606, "disease": "glioblastoma (Disease Ontology:DOID:3068)", "pathway": " (hsa:158880)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;14715245;15060002;19664994;23481700;25645385;26375851;27083998;28218747;28228285;28832583;29119051;29242379;29437277;29493099;29632046;29786170;30315122;30410026;31092671;31154438;31530632;31844290;31937595;32161166;32296027;32938616;33022275;33912179;33968037;34188037;34211107;35051231;35856403;36010968;36241641;37217939;37422632;37816999;37938771", "class_list": "", "function": "CDK4/6 inhibition blocks cancer metastasis through a USP51-ZEB1-dependent deubiquitination mechanism. Erratum:[Signal Transduct Target Ther. 2020 Jun 19;5(1):103. doi: 10.1038/s41392-020-00212-9. PMID: 34145216] Publication Status: Online-Only, [RefSeq, PubMed]; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes., [UniProtKB, UniProtKB]; Specifically deubiquitinates 'Lys-14' (H2AK13Ub) and 'Lys-16'(H2AK15Ub) of histone H2A regulating the DNA damage response at double-strand breaks (DSBs) (PubMed:27083998, PubMed:33022275). USP51 is recruited to chromatin after DNA damage and regulates the dynamic assembly/disassembly of TP53BP1 and BRCA1. Functions in DNA double-strand break repair also by mediating the deubiquitination and subsequent stabilization of DGCR8, leading to the recruitment of DGCR8 binding partners to double strand breaks such as RNF168 or MDC1 (PubMed:34188037). In addition, promotes the deubiquitination and stabilization of the transcriptional repressor ZEB1 (PubMed:29119051)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The role of USP51 in attenuating chemosensitivity of lung cancer cells to cisplatin by regulating DNA damage response., [RefSeq, PubMed]; USP51 facilitates colorectal cancer stemness and chemoresistance by forming a positive feed-forward loop with HIF1A., [RefSeq, PubMed]; USP51 promotes non-small cell lung carcinoma cell stemness by deubiquitinating TWIST1. 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": 3, "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": "Q8IWJ8", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0042393 histone binding;GO:0004843 cysteine-type deubiquitinase activity;GO:0140950 histone H2A deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005694 chromosome", "go_biological_process": "GO:0006281 DNA repair;GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0006974 DNA damage response;GO:0010564 regulation of cell cycle process", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q70EK9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A2RUC4-1", "uniprot_id": "TYW5_HUMAN", "mass": 36548.0, "length": 315, "protein_name": "tRNA wybutosine-synthesizing protein 5", "gene_name": "TYW5", "organism": "Human", "refseq_name": "tRNA wybutosine-synthesizing protein 5", "refseq_ac": "NP_001034782", "gene_names_uniprotkb": "TYW5; C2orf60", "gene_names_refseq": "C2orf60; TYW5; hTYW5", "protein_names_uniprotkb": "tRNA wybutosine-synthesizing protein 5; 1.14.11.42; hTYW5; tRNA yW-synthesizing protein 5; tRNA(Phe) (7-(3-amino-3-carboxypropyl)wyosine(37)-C(2))-hydroxylase", "protein_names_refseq": "jmjC domain-containing protein C2orf60; tRNA wybutosine-synthesizing protein 5; tRNA yW-synthesizing enzyme 5; tRNA(Phe) (7-(3-amino-3-carboxypropyl)wyosine(37)-C(2))-hydroxylase", "tax_id": 9606, "disease": "", "pathway": " (hsa:129450); (R-HSA-6782861)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "15248782;20739293;20972222;22761755;23887145;25880248;28228285;31844290;32350084;32357974;33141586;33968037;33981976;34581804;35051231;35527273;36241641", "class_list": "", "function": "Comprehensive and integrative analyses identify TYW5 as a schizophrenia risk gene. Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory variants at 2q33.1 confer schizophrenia risk by modulating distal gene TYW5 expression., [RefSeq, PubMed]; tRNA hydroxylase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the hydroxylation of 7-(a-amino-a-carboxypropyl)wyosine (yW-72) into undermodified hydroxywybutosine (OHyW*). OHyW* being further transformed into hydroxywybutosine (OHyW) by LCMT2/TYW4. OHyW is a derivative of wybutosine found in higher eukaryotes., [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": 2, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RNE3;Q8N1R2", "ec_number_list": "1.14.11.42", "go_molecular_function": "GO:0005506 iron ion binding;GO:0042803 protein homodimerization activity;GO:0000049 tRNA binding;GO:0102524 tRNA(Phe) (7-(3-amino-3-carboxypropyl)wyosine37-C2)-hydroxylase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0031591 wybutosine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "A2RUC4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NCW0-1", "uniprot_id": "U17L3_HUMAN", "mass": 59536.0, "length": 530, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 3", "gene_name": "USP17L3", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 17-like protein 3", "refseq_ac": "NP_001243800", "gene_names_uniprotkb": "USP17L3; USP17B; USP17F", "gene_names_refseq": "USP17B; USP17F; USP17L3", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 3; 3.4.19.12; Deubiquitinating enzyme 17-like protein 3; Ubiquitin thioesterase 17-like protein 3; Ubiquitin-specific-processing protease 17-like protein 3", "protein_names_refseq": "deubiquitinating enzyme 17-like protein 3; ubiquitin carboxyl-terminal hydrolase 17-like protein 3; ubiquitin specific peptidase 17-like 3; ubiquitin thioesterase 17-like protein 3; ubiquitin-specific-processing protease 17-like protein 3", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:645836); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "10444327;10982817;11566882;11923872;12917689;12917691;14661020;15053880;15780755;15916963;16214042;16901786;16964248;17109758;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24896179;25197364;25305019;25578727;35051231;38253038;7578059", "class_list": "", "function": "Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 0, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "3.4.19.12;3.6.4.13;3.1.3.48;3.4.26.1", "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0006915 apoptotic process;GO:0031647 regulation of protein stability;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "A6NCW0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MUK1-1", "uniprot_id": "U17L5_HUMAN", "mass": 59683.0, "length": 530, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 5", "gene_name": "USP17L5", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 17-like protein 5", "refseq_ac": "NP_001229258", "gene_names_uniprotkb": "USP17L5", "gene_names_refseq": "USP17L5", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 5; 3.4.19.12; Deubiquitinating enzyme 17-like protein 5; Ubiquitin thioesterase 17-like protein 5; Ubiquitin-specific-processing protease 17-like protein 5", "protein_names_refseq": "deubiquitinating enzyme 17-like protein 5; ubiquitin carboxyl-terminal hydrolase 17-like protein 5; ubiquitin thioesterase 17-like protein 5; ubiquitin thiolesterase 17-like protein 5; ubiquitin-specific-processing protease 17-like protein 5", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:728386); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10444327;10982817;11566882;11923872;12917689;12917691;14661020;15053880;15780755;15916963;16214042;16901786;16964248;17109758;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24896179;25197364;25305019;25578727;7578059", "class_list": "", "function": "Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "3.4.19.12;3.6.4.13;3.1.3.48;3.4.26.1", "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0006915 apoptotic process;GO:0031647 regulation of protein stability;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "A8MUK1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "C9J2P7-1", "uniprot_id": "U17LF_HUMAN", "mass": 62502.0, "length": 553, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 15", "gene_name": "USP17L15", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 17-like protein 15", "refseq_ac": "NP_001243823", "gene_names_uniprotkb": "USP17L15", "gene_names_refseq": "USP17L15", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 15; 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3.4.19.12", "protein_names_refseq": "ubiquitin carboxyl-terminal hydrolase 17-like protein 11", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:100287178); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10444327;10982817;11566882;11923872;12917689;12917691;14661020;15053880;15916963;16214042;16901786;16964248;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24896179;25197364;25305019;25578727;7578059", "class_list": "", "function": "Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "3.4.19.12;3.6.4.13;3.1.3.48;3.4.26.1", "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "C9JVI0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "D6R9N7-1", "uniprot_id": "U17LI_HUMAN", "mass": 59657.0, "length": 530, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 18", "gene_name": "USP17L18", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 17-like protein 18", "refseq_ac": "NP_001243788", "gene_names_uniprotkb": "USP17L18", "gene_names_refseq": "USP17L18", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 18; 3.4.19.12", "protein_names_refseq": "ubiquitin carboxyl-terminal hydrolase 17-like protein 18", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:100287364); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10444327;10982817;11566882;11923872;12917689;12917691;14661020;15053880;15916963;16214042;16901786;16964248;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24896179;25197364;25305019;25578727;7578059", "class_list": "", "function": "Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "3.4.19.12;3.6.4.13;3.1.3.48;3.4.26.1", "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "D6R9N7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "D6RA61-1", "uniprot_id": "U17LM_HUMAN", "mass": 59671.0, "length": 530, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 22", "gene_name": "USP17L22", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 17-like protein 22", "refseq_ac": "NP_001243792", "gene_names_uniprotkb": "USP17L22", "gene_names_refseq": "USP17L22", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 22; 3.4.19.12", "protein_names_refseq": "ubiquitin carboxyl-terminal hydrolase 17-like protein 22", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:100287513); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10444327;10982817;11566882;11923872;12917689;12917691;14661020;15053880;15916963;16214042;16901786;16964248;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24896179;25197364;25305019;25578727;7578059", "class_list": "", "function": "Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "3.4.19.12;3.6.4.13;3.1.3.48;3.4.26.1", "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "D6RA61-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UWH6-1", "uniprot_id": "TX261_HUMAN", "mass": 22538.0, "length": 196, "protein_name": "Protein TEX261", "gene_name": "TEX261", "organism": "Human", "refseq_name": "protein TEX261", "refseq_ac": "NP_653183", "gene_names_uniprotkb": "TEX261; PRO4325", "gene_names_refseq": "TEG-261; TEX261", "protein_names_uniprotkb": "Protein TEX261", "protein_names_refseq": "protein TEX261; testis expressed sequence 261", "tax_id": 9606, "disease": "", "pathway": " (hsa:113419)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;12975309;20112406;23481700;25418920;26154972;26811146;26929215;27862975;28218747;28514659;28832583;28904123;29242379;29393594;29557506;29632046;30779550;31154438;31217245;31611695;31844290;31848261;32157095;32265295;32350084;32387766;32938616;33298915;33912179;33968037;34087483;34171305;34357683;34932366;35051231;35580925;36010968;36284347", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1A587;D6W5G9;Q8WUJ5", "ec_number_list": "", "go_molecular_function": "GO:0097020 COPII receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0005789 endoplasmic reticulum membrane;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q6UWH6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15391-1", "uniprot_id": "TYY2_HUMAN", "mass": 41347.0, "length": 372, "protein_name": "Transcription factor YY2", "gene_name": "YY2", "organism": "Human", "refseq_name": "transcription factor YY2", "refseq_ac": "NP_996806", "gene_names_uniprotkb": "YY2; ZNF631", "gene_names_refseq": "YY2; ZNF631", "protein_names_uniprotkb": "Transcription factor YY2; YY-2; Yin and yang 2; Zinc finger protein 631", "protein_names_refseq": "transcription factor YY2; transcription factor yin yang 2; yin and yang 2; zinc finger protein 631", "tax_id": 9606, "disease": "", "pathway": " (hsa:404281)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "15087442;16260628;16377127;16959974;19026728;28832583;29242379;29393594;29557506;31222486;31844290;31937595;32157095;32357974;32387766;32488085;32969187;33141586;33537174;33981976;35246964;36215666;37300334;38335956", "class_list": "", "function": "Biological roles of Yin Yang 2: Its implications in physiological and pathological events. Review article, [RefSeq, PubMed]; Functions as a multifunctional transcription factor that may exhibit positive and negative control on a large number of genes. May antagonize YY1 and function in development and differentiation., [UniProtKB, PubMed]; Homeostasis Imbalance of YY2 and YY1 Promotes Tumor Growth by Manipulating Ferroptosis., [RefSeq, PubMed]; Integrative high-throughput enhancer surveying and functional verification divulges a YY2-condensed regulatory axis conferring risk for osteoporosis., [RefSeq, PubMed]; The novel factor YY2 antagonizes the negative actions exerted by YY1, [RefSeq, PubMed]; The protein encoded by this gene is a transcription factor that includes several Kruppel-like zinc fingers in its C-terminal region. It possesses both activation and repression domains, and it can therefore have both positive and negative effects on the transcription of target genes. This gene has an intronless coding region, and it appears to have arisen by retrotransposition of the related YY1 transcription factor gene, which is located on chromosome 14. [provided by RefSeq, May 2010]., [RefSeq]; YY2 can bind to and regulate some promoters known to be controlled by YY1. Similar to YY1, YY2 contains both transcriptional activation and repression functions., [RefSeq, PubMed]; YY2-DRP1 Axis Regulates Mitochondrial Fission and Determines Cancer Stem Cell Asymmetric Division., [RefSeq, PubMed]; Yy2 expression is mediated by its own methylation-sensitive promoter., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "B2RP10;Q6Q1S4", "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:0000987 cis-regulatory region sequence-specific DNA binding;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005667 transcription regulator complex;GO:0000785 chromatin;GO:0031519 PcG protein complex", "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": 2.5, "record_id": "O15391-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01222-1", "uniprot_id": "TSHB_HUMAN", "mass": 15639.0, "length": 138, "protein_name": "Thyrotropin subunit beta", "gene_name": "TSHB", "organism": "Human", "refseq_name": "thyrotropin subunit beta isoform 1 precursor", "refseq_ac": "NP_000540", "gene_names_uniprotkb": "TSHB", "gene_names_refseq": "TSH-BETA; TSH-B; TSHB", "protein_names_uniprotkb": "Thyrotropin subunit beta; TSH-B; TSH-beta; Thyroid-stimulating hormone subunit beta; Thyrotropin beta chain", "protein_names_refseq": "thyroid stimulating hormone beta; thyrotropin beta chain; thyrotropin subunit beta isoform 1 precursor; thyrotropin subunit beta", "tax_id": 9606, "disease": "congenital nongoitrous hypothyroidism 4 (Disease Ontology:DOID:0070123); hypothyroidism (Disease Ontology:DOID:1459); severe acute respiratory syndrome (Disease Ontology:DOID:2945); hyperglycemia (Disease Ontology:DOID:4195)", "pathway": " (hsa:7252); (R-HSA-209822); (R-HSA-209968); (R-HSA-375281); (R-HSA-418555)", "pathway_count": 5, "publication_count": 103, "publication_id_list": "11007482;11514595;11707068;11726197;1191677;12036966;12039074;12045258;12058044;12106601;12180353;12364478;12860470;1333190;13549488;1457969;14671004;1517224;15561711;15765929;15769620;15951850;15972824;16123088;16313925;16527410;16651268;16687412;1688430;16910871;16923326;1709010;17095587;17168849;1722671;18044684;18577758;19006286;19105585;19144650;1922095;19364510;1971148;19876791;19929708;20381629;21036126;2163110;21657270;2244890;22752807;2417744;2457586;24687066;2491850;2553411;2553705;2558651;25811175;26398856;26417854;26774084;2871555;29443750;29602314;30833991;3127824;31279028;31399091;31983287;32226383;32242612;3234176;3243440;32497535;32540603;32618402;32715661;32738139;32769997;33049737;36001021;38194289;3839756;6085243;6090951;67547;6774759;7215288;7649152;8188646;8196184;8340388;8514797;8672451;8702611;8806637;890569;9263355;9300077;9417641;9419371;9651336", "class_list": "", "function": "Cold Exposure Distinctively Modulates Parathyroid and Thyroid Hormones in Cold-Acclimatized and Non-Acclimatized Humans., [RefSeq, PubMed]; GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer. Erratum:[Nat Commun. 2021 Dec 16;12(1):7354. doi: 10.1038/s41467-021-27675-w. PMID: 34916535] Publication Status: Online-Only, [RefSeq, PubMed]; Human pituitary, thyroid, and mononuclear leukocytes express a TSHbeta isoform that is analogous to the mouse TSHbeta isoform, consisting of a 27 nucleotide portion of intron 2 and all of exon 3, coding for 71.2% of the native human TSHbeta polypeptide. Erratum:[Gen Comp Endocrinol. 2009 Nov-Dec;164(2-3):130], [RefSeq, PubMed]; In Hashimoto's thyroiditis the hTSHbeta splice variant exists in human serum and dimerises with TSHalpha., [RefSeq, PubMed]; Indispensable for the control of thyroid structure and metabolism., [UniProtKB]; The Human TSHbeta Subunit Proteins and Their Binding Sites on the TSH Receptor Using Molecular Dynamics Simulation., [RefSeq, PubMed]; The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. Thyroid stimulating hormone functions in the control of thyroid structure and metabolism. The protein encoded by this gene is the beta subunit of thyroid stimulating hormone. Mutations in this gene are associated with congenital central and secondary hypothyroidism and Hashimoto's thyroiditis. Alternative splicing of this gene 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": 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": 6, "reported_interactions": 0, "missing_score": 46, "biomarker_type": "", "glycan_count": 7, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B1AKP0;Q16163", "ec_number_list": "", "go_molecular_function": "GO:0005179 hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007267 cell-cell signaling;GO:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "P01222-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01733-1", "uniprot_id": "TVBL3_HUMAN", "mass": 12997.0, "length": 115, "protein_name": "T cell receptor beta variable 12-3", "gene_name": "TRBV12-3", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV12-3; TCRBV12S3; TCRBV8S1", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 12-3; T-cell receptor beta chain V region YT35", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-198933); (R-HSA-202424); (R-HSA-202427); (R-HSA-202430); (R-HSA-202433); (R-HSA-389948)", "pathway_count": 6, "publication_count": 162, "publication_id_list": "10499918;10671560;10698680;10716940;10746781;10747096;10790433;10811803;11048639;11265639;11358993;11390650;11489943;11513152;11556966;11607830;11752630;11807247;11827988;11857637;11858820;11861603;11884229;11955593;11955595;11955599;12213321;12473184;12483297;12485116;12588680;12660731;12893276;12938237;12947224;14510693;14514672;14719373;14970179;15034010;15040585;15084594;15122200;15125833;15136729;15145317;15155468;15187158;15304001;15358536;15371334;15489910;15489916;15534202;15541655;15541657;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16056267;16091383;16129954;16339513;16356853;16356855;16364187;16380601;16461343;16551255;16612002;16737824;16754721;16893496;16904340;16928187;16978534;17045824;17047224;17057721;17072321;17135271;17237375;17337780;17363905;17468049;17496917;17548359;17652306;17728323;18031695;18037897;18055229;18173375;18209062;18234675;18593354;18759926;19149696;19349973;19359216;19592130;20346773;20452950;20730098;21154117;21241660;21543337;21800138;21841309;21877119;22396535;22426112;23302904;23524462;23580664;23695528;23929856;24305946;24600447;2530588;25493333;25703557;25716998;26284469;26300885;28165004;28265006;29493099;29863979;30522017;31313098;32983136;3866244;6336315;7479848;7531291;7542404;7565724;8178173;8520027;8550590;8601309;8650574;8798379;8824201;8995416;9115214;9252186;9285412;9314561;9362451;9687533;9700512;9730896;9846482;9850860;9990853", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A6YYD5;A0A5A7", "ec_number_list": "", "go_molecular_function": "GO:0042605 peptide antigen binding;GO:0042287 MHC protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "P01733-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C7I0-1", "uniprot_id": "U17L8_HUMAN", "mass": 59635.0, "length": 530, "protein_name": "Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 8", "gene_name": "USP17L8", "organism": "Human", "refseq_name": "inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 8", "refseq_ac": "NP_001243801", "gene_names_uniprotkb": "USP17L8", "gene_names_refseq": "USP17L8", "protein_names_uniprotkb": "Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 8", "protein_names_refseq": "inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 8; ubiquitin specific peptidase 17-like 8", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:392188); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "10444327;10982817;11566882;11923872;12917689;12917691;14661020;15053880;15780755;15916963;16214042;16901786;16964248;17109758;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24896179;25197364;25305019;25578727;34561969;7578059", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "P0C7I0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CB47-1", "uniprot_id": "UBFL1_HUMAN", "mass": 46134.0, "length": 393, "protein_name": "Upstream-binding factor 1-like protein 1", "gene_name": "UBTFL1", "organism": "Human", "refseq_name": "upstream-binding factor 1-like protein 1", "refseq_ac": "NP_001137447", "gene_names_uniprotkb": "UBTFL1; C11orf27", "gene_names_refseq": "C11orf27; HMGPI; UBTFL1", "protein_names_uniprotkb": "Upstream-binding factor 1-like protein 1", "protein_names_refseq": "putative upstream-binding factor 1-like protein 1; upstream binding transcription factor, RNA polymerase I-like 1; upstream-binding factor 1-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:642623)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "19915186", "class_list": "", "function": "Essential for proliferation of the inner cell mass and trophectodermal cells in peri-implantation development., [UniProtKB, UniProtKB]; Functionally characterizes an homologous mouse gene and product, and compares it to this human product., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "C9JMX8", "ec_number_list": "", "go_molecular_function": "GO:0001164 RNA polymerase I core promoter sequence-specific DNA binding;GO:0001181 RNA polymerase I general transcription initiation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006360 transcription by RNA polymerase I;GO:0045943 positive regulation of transcription by RNA polymerase I", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0CB47-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P14679-1", "uniprot_id": "TYRO_HUMAN", "mass": 60393.0, "length": 529, "protein_name": "Tyrosinase", "gene_name": "TYR", "organism": "Human", "refseq_name": "tyrosinase precursor", "refseq_ac": "NP_000363", "gene_names_uniprotkb": "TYR", "gene_names_refseq": "ATN; CMM8; OCA1A; OCA1; OCAIA; SHEP3; TYR", "protein_names_uniprotkb": "Tyrosinase; 1.14.18.1; LB24-AB; Monophenol monooxygenase; SK29-AB; Tumor rejection antigen AB", "protein_names_refseq": "LB24-AB; SK29-AB; monophenol monooxygenase; oculocutaneous albinism IA; tumor rejection antigen AB; tyrosinase precursor", "tax_id": 9606, "disease": "oculocutaneous albinism (Disease Ontology:DOID:0050632); ocular albinism 1 (Disease Ontology:DOID:0050633); oculocutaneous albinism type IA (Disease Ontology:DOID:0070094); oculocutaneous albinism type IB (Disease Ontology:DOID:0070095); pigmentation disease (Disease Ontology:DOID:10123); buphthalmos (Disease Ontology:DOID:11211); vitiligo (Disease Ontology:DOID:12306); color blindness (Disease Ontology:DOID:13399); melanoma (Disease Ontology:DOID:1909); retinoschisis (Disease Ontology:DOID:8465); skin melanoma (Disease Ontology:DOID:8923)", "pathway": " (hsa:7299); (R-HSA-5662702); (R-HSA-9824585)", "pathway_count": 3, "publication_count": 125, "publication_id_list": "10094567;10347209;10540322;10571953;10587587;10671066;10713140;10987646;11069924;11153699;11171088;11214319;11295837;11481264;11532965;11856727;11858948;11964381;12028586;12062444;12643545;1321344;1487241;15128778;15146472;1537333;1537334;15543135;15695812;15729346;15946243;15980237;16247014;16303920;1642278;16704458;17081065;17083485;1711223;17182843;17253112;17709425;17952075;17999355;18483556;18697795;18812475;1899321;1900309;1903356;1903591;1905879;19297406;19320745;19342661;19389701;1943686;1970634;19717472;21677667;22981120;2342539;23504663;24267888;24371571;24802712;2480811;24934919;2499655;2504160;25093188;25645385;26492414;26694611;26701645;26811146;27600516;27821860;27846572;27869121;2823263;28661582;28842328;29557506;30515787;30868138;31054264;31844290;32157095;32314731;32488085;32582212;33100333;33836029;34035112;34290406;34782741;35580127;35874702;36608422;38007394;38145795;38275092;38947322;39304291;39394480;4853153;6766744;7813420;7902671;7955413;8026428;8048919;8128955;8306979;8340755;8434585;8477259;8644824;8921401;9158138;9185691;9259202;9758418;9770375", "class_list": "", "function": "Dysregulation of tyrosinase activity: a potential link between skin disorders and neurodegeneration. Review article, [RefSeq, PubMed]; Markers of Oxidative Stress and Tyrosinase Activity in Melasma Patients: A Biochemical Investigation., [RefSeq, PubMed]; Structural characterization of tyrosinases and an update on human enzymes. Review article, [RefSeq, PubMed]; TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations., [RefSeq, PubMed]; The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008]., [RefSeq]; This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine (By similarity). In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone (PubMed:28661582)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "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": 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": 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": 55, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 11, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q15675;Q15676;Q15680;Q8TAK4;Q9BYY0;Q9BZX1", "ec_number_list": "1.14.18.1;1.14.18.-;3.6.4.-", "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0005507 copper ion binding;GO:0004503 tyrosinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005798 Golgi-associated vesicle;GO:0048471 perinuclear region of cytoplasm;GO:0005764 lysosome;GO:0042470 melanosome", "go_biological_process": "GO:0007601 visual perception;GO:0009411 response to UV;GO:0006726 eye pigment biosynthetic process;GO:0051591 response to cAMP;GO:0033280 response to vitamin D", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "P14679-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2T9J0-1", "uniprot_id": "TYSD1_HUMAN", "mass": 59309.0, "length": 566, "protein_name": "Peroxisomal leader peptide-processing protease", "gene_name": "TYSND1", "organism": "Human", "refseq_name": "peroxisomal leader peptide-processing protease isoform b", "refseq_ac": "NP_001035363", "gene_names_uniprotkb": "TYSND1", "gene_names_refseq": "NET41; TYSND1", "protein_names_uniprotkb": "Peroxisomal leader peptide-processing protease; 3.4.21.-; Trypsin domain-containing protein 1", "protein_names_refseq": "peroxisomal cysteine endopeptidase; peroxisomal leader peptide-processing protease isoform b; peroxisomal leader peptide-processing protease; peroxisomal matrix protein-processing protease; peroxisome leader peptide-processing protease; trypsin domain containing 1; trypsin domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:219743); (R-HSA-9033241); (R-HSA-9033500)", "pathway_count": 3, "publication_count": 104, "publication_id_list": "10022913;10562279;10673331;11101887;11546814;11781871;11931631;12456682;12559034;12578380;12717447;12885776;15545321;15858711;16766224;16854980;17007944;17255948;17726030;18359941;18712838;19197237;19208625;19584060;19632994;20178365;21554508;21976670;21980954;22002062;22057399;22371489;22747494;23481700;23963456;24235149;24715725;24865970;25016021;25418920;25538232;25854684;26086376;26138649;26154972;26220973;26344566;26992070;27597759;27846572;27920218;28218747;28228285;28514659;28521612;28611990;28765278;28787099;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29786170;30315122;30410026;30429286;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32502341;32938616;33141586;33298915;33633747;33936100;33968037;33981976;34171305;34211107;35051231;35580925;36010968;36241641;7719337;7790377;8824437;8858165;8991089;9089413;9090381;9090382;9090383;9539740;9653144;9668159;9837948", "class_list": "", "function": "Characterization of protease function and self-cleavage of mouse Tysnd1, [RefSeq, PubMed]; Peroxisomal protease that mediates both the removal of the leader peptide from proteins containing a PTS2 target sequence and processes several PTS1-containing proteins. Catalyzes the processing of PTS1-proteins involved in the peroxisomal beta-oxidation of fatty acids., [UniProtKB, PubMed]; The proteolytic activity of oligomeric Tysnd1 is in turn controlled by self-cleavage of Tysnd1 and degradation of Tysnd1 cleavage products by PsLon., [RefSeq, PubMed]; This gene encodes a protease that removes the N-terminal peroxisomal targeting signal (PTS2) from proteins produced in the cytosol, thereby facilitating their import into the peroxisome. The encoded protein is also capable of removing the C-terminal peroxisomal targeting signal (PTS1) from proteins in the peroxisomal matrix. The full-length protein undergoes self-cleavage to produce shorter, potentially inactive, peptides. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5SQT4;Q5SQU1;Q8N6H2;Q96AR5", "ec_number_list": "3.6.1.-;3.6.1.77;2.5.1.26;3.1.2.2;3.1.2.27;3.1.2.1;3.1.2.11;3.1.2.3;3.1.2.5;1.14.11.18;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;1.1.1.42;1.11.1.6;2.3.1.16;2.3.1.9;2.3.1.155;3.4.24.56;1.4.3.3;2.6.1.51;2.6.1.44;2.3.1.176;2.3.2.36;1.14.13.39;4.1.3.4;2.3.1.137;2.3.1.7;5.3.3.21;2.3.1.65;3.4.21.-;1.5.3.13;3.4.21.53;1.4.3.1;1.1.1.184;1.3.1.38;1.3.1.124;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:0002020 protease binding;GO:0004252 serine-type endopeptidase activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005777 peroxisome;GO:0005782 peroxisomal matrix;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0016485 protein processing;GO:0031998 regulation of fatty acid beta-oxidation", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q2T9J0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5JXB2-1", "uniprot_id": "UE2NL_HUMAN", "mass": 17377.0, "length": 153, "protein_name": "Putative ubiquitin-conjugating enzyme E2 N-like", "gene_name": "UBE2NL", "organism": "Human", "refseq_name": "putative ubiquitin-conjugating enzyme E2 N-like", "refseq_ac": "NP_001013007", "gene_names_uniprotkb": "UBE2NL", "gene_names_refseq": "Li174; UBE2NL", "protein_names_uniprotkb": "Putative ubiquitin-conjugating enzyme E2 N-like; Epididymis tissue protein Li 174", "protein_names_refseq": "epididymis tissue protein Li 174; putative ubiquitin-conjugating enzyme E2 N-like; ubiquitin conjugating enzyme E2N-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:389898)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "17924679;20736409;24715725;28904123;29493099;31844290;32157095;32897882;32938616;32983136;33691108;33968037;34357683;34509645;35051231;35154160;35318648;35580925;36010968;36241641", "class_list": "", "function": "This gene is intronless and encodes a member of the ubiquitin-conjugating enzyme family. The protein product is 91% identical to ubiquitin-conjugating enzyme E2N, a multi-exon gene product. This locus represents a polymorphic pseudogene, where some individuals contain an allele that can encode a full-length protein, while others have a non-functional allele containing a premature stop codon (reference SNP rs237520) that truncates the coding sequence. [provided by RefSeq, Jun 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "E9KL27", "ec_number_list": "", "go_molecular_function": "GO:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0005634 nucleus;GO:0070062 extracellular exosome", "go_biological_process": "GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q5JXB2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96LJ8-1", "uniprot_id": "UBX10_HUMAN", "mass": 30811.0, "length": 280, "protein_name": "UBX domain-containing protein 10", "gene_name": "UBXN10", "organism": "Human", "refseq_name": "UBX domain-containing protein 10", "refseq_ac": "NP_689589", "gene_names_uniprotkb": "UBXN10; UBXD3", "gene_names_refseq": "UBXD3; UBXN10", "protein_names_uniprotkb": "UBX domain-containing protein 10; UBX domain-containing protein 3", "protein_names_refseq": "UBX domain containing 3; UBX domain-containing protein 10; UBX domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:127733)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "23186163;26389662", "class_list": "", "function": "Data show that UBXN10 localizes to cilia in a AAA-ATPase VCP-dependent manner and both VCP and UBXN10 are required for ciliogenesis. Erratum:[Nat Cell Biol. 2016 Mar;18(3):347. doi: 10.1038/ncb3318. PMID: 26911913], [RefSeq, PubMed]; VCP/p97-binding protein required for ciliogenesis (PubMed:26389662). Acts as a tethering factor that facilitates recruitment of VCP/p97 to the intraflagellar transport complex B (IFT-B) in cilia (PubMed:26389662). UBX domain-containing proteins act as tethering factors for VCP/p97 and may specify substrate specificity of VCP/p97 (PubMed:26389662)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5R386", "ec_number_list": "", "go_molecular_function": "GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005929 cilium", "go_biological_process": "GO:0060271 cilium assembly;GO:0036503 ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q96LJ8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BY14-1", "uniprot_id": "TX101_HUMAN", "mass": 26667.0, "length": 249, "protein_name": "Testis-expressed protein 101", "gene_name": "TEX101", "organism": "Human", "refseq_name": "testis-expressed protein 101 isoform 2 precursor", "refseq_ac": "NP_001123483", "gene_names_uniprotkb": "TEX101; PRO1884; SGRG", "gene_names_refseq": "CT131; GTPR867; NYD-SP8; PRO1884; SGRG; SPATA44; TES101RP; TEX101", "protein_names_uniprotkb": "Testis-expressed protein 101; Cell surface receptor NYD-SP8; Scleroderma-associated autoantigen; Spermatogenesis-related gene protein", "protein_names_refseq": "TES101-reactive protein; cancer/testis antigen 131; cell surface receptor NYD-SP8; scleroderma-associated autoantigen; spermatogenesis associated 44; spermatogenesis-related gene protein; testis expressed sequence 101; testis-expressed protein 101 isoform 2 precursor; testis-expressed protein 101; testis-expressed sequence 101 protein; testis-specific protein TES101RP", "tax_id": 9606, "disease": "", "pathway": " (hsa:83639); (R-HSA-163125)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "11072085;12975309;16516155;19017363;19153666;19886887;2443973;30429210;32608065;32927778;3422494", "class_list": "", "function": "Crystal structure of TEX101, a glycoprotein essential for male fertility, reveals the presence of tandemly arranged Ly6/uPAR domains., [RefSeq, PubMed]; Identification & function of a novel sperm GPI-anchored membrane protein, NYD-SP8; release of NYD-SP8 during sperm-egg interaction & binding to cumulus elicits cross-talk between the gametes leading to the acrosome reaction, [RefSeq, PubMed]; NYD-SP8 has a role in regulating ECM degradation, providing a novel mechanism that modulates urokinase signalling in the suppression of cancer progression, [RefSeq, PubMed]; Plays a role in fertilization by controlling binding of sperm to zona pellucida and migration of spermatozoa into the oviduct (By similarity). May play a role in signal transduction and promote protein tyrosine phosphorylation (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Role of the Glycosylphosphatidylinositol-Anchored Protein TEX101 and Its Related Molecules in Spermatogenesis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Study provides evidence that spermatozoa of rs35033974 homozygous men have substantially reduced levels of TEX101 and could be used as a model to elucidate the precise TEX101 function. Because TEX101 seminal plasma levels were found significantly lower in heterozygous than in WT men, rs35033974 status could be considered in TEX101 diagnostics., [RefSeq, PubMed]; The SPATA19 and TEX101 genes may be possible targets for cancer immunotherapy and novel markers for early detection of basal cell carcinoma., [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": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q7L5R2;Q9BPY7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0044853 plasma membrane raft;GO:0001669 acrosomal vesicle;GO:0002080 acrosomal membrane", "go_biological_process": "GO:0007339 binding of sperm to zona pellucida;GO:0009566 fertilization;GO:0030317 flagellated sperm motility;GO:1901317 regulation of flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9BY14-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HAW9-1", "uniprot_id": "UD18_HUMAN", "mass": 59742.0, "length": 530, "protein_name": "UDP-glucuronosyltransferase 1A8", "gene_name": "UGT1A8", "organism": "Human", "refseq_name": "UDP-glucuronosyltransferase 1A8 precursor", "refseq_ac": "NP_061949", "gene_names_uniprotkb": "UGT1A8; GNT1; UGT1", "gene_names_refseq": "UDPGT 1-8; UDPGT; UGT-1H; UGT1-08; UGT1.8; UGT1A8S; UGT1A8; UGT1H", "protein_names_uniprotkb": "UDP-glucuronosyltransferase 1A8; 2.4.1.17; UDP-glucuronosyltransferase 1-8; UDP-glucuronosyltransferase 1-H; UDPGT 1-8; UGT-1H; UGT1*8; UGT1-08; UGT1.8; UGT1A8; UGT1H", "protein_names_refseq": "UDP glucuronosyltransferase 1 family, polypeptide A8; UDP glycosyltransferase 1 family, polypeptide A8; UDP-glucuronosyltransferase 1 family polypeptide A8s; UDP-glucuronosyltransferase 1-8; UDP-glucuronosyltransferase 1-H; UDP-glucuronosyltransferase 1A8 precursor; UDP-glucuronosyltransferase 1A8", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:54576); (R-HSA-156588); (R-HSA-9749641)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "10220572;10434065;11434514;11581266;12042666;12181437;12433823;12616642;1339448;13741103;14570768;14616765;15135306;15470161;15472229;16258079;1634050;1634606;16595710;16837570;16858120;1692835;16943252;17179145;17482904;1783992;18004212;18052085;18052087;18674515;18719240;19159218;19204906;19545173;19836360;20610558;21422672;22294686;22674043;23288867;25840124;26317684;27556486;28677105;29025387;29282011;29519853;29741879;3082969;30833945;31154438;32592099;3342084;3705620;4639028;5013373;5773090;5862532;6654901;6777177;6796486;6838677;7206363;7802672;7906695;8027054;8276413;8687483;9144407;931988;9535849;975718", "class_list": "glycogene;glycosyltransferase", "function": "Data suggest UGT1A8 is involved in differential metabolism of dietary flavonoids (glucosides and aglycones); glucuronidation of flavonoid glucosides is considerably slower than glucuronidation of flavonoid aglycones in microsomes of intestine/liver., [RefSeq, PubMed]; Lacks UGT glucuronidation activity but acts as a negative regulator of isoform 1., [UniProtKB, PubMed, PubMed]; Polymorphism of UGT1A8 rs1042597-G variant allele is associated with colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Studies lead to a model for the developmental patterning of UGT1A8, UGT1A9, and UGT1A10 in hepatic and/or extrahepatic tissues involving discrete regulatory modules that may function (independently and cooperatively) in a context-dependent manner, [RefSeq, PubMed]; The function of uterine UDP-glucuronosyltransferase 1A8 (UGT1A8) and UDP-glucuronosyltransferase 2B7 (UGT2B7) is involved in endometrial cancer based on estrogen metabolism regulation., [RefSeq, PubMed]; This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity with many substrates including coumarins, phenols, anthraquinones, flavones, and some opioids. [provided by RefSeq, Jul 2008]., [RefSeq]; UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:15472229, PubMed:16595710, PubMed:18004212, PubMed:18052087, PubMed:18674515, PubMed:18719240, PubMed:19545173, PubMed:23288867, PubMed:21422672). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:15472229, PubMed:16595710, PubMed:23288867). Catalyzes the glucuronidation of endogenous steroid hormones such as androgens and estrogens (PubMed:15472229, PubMed:16595710, PubMed:18719240, PubMed:23288867). Produces dihydrotestosterone (DHT) diglucuronide from the DHT after two subsequent glucoronidation steps (PubMed:16595710). Involved in the glucuronidation of the phytochemical ferulic acid at the phenolic or the carboxylic acid group (PubMed:21422672). Also catalyzes the glucuronidation of the isoflavones genistein, daidzein, glycitein, formononetin, biochanin A and prunetin, which are phytoestrogens with anticancer and cardiovascular properties (PubMed:18052087, PubMed:19545173). Involved in the glucuronidation of the AGTR1 angiotensin receptor antagonist caderastan, a drug which can inhibit the effect of angiotensin II (PubMed:18674515). Also metabolizes mycophenolate, an immunosuppressive agent (PubMed:15470161, PubMed:18004212)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; UGT1A8 gene polymorphisms can affect the activity of UDP glucuronosyltransferase enzyme, which may influence the elimination of mycophenolate mofetil in different patients., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 737, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R8S3;B8K290;O14928;Q8TEX4;Q8WTQ9;Q8WX85", "ec_number_list": "2.4.1.17;2.4.1.170;2.4.1.185", "go_molecular_function": "GO:0008194 UDP-glycosyltransferase activity;GO:0004857 enzyme inhibitor activity;GO:0005504 fatty acid binding;GO:0019899 enzyme binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0008210 estrogen metabolic process;GO:0045922 negative regulation of fatty acid metabolic process;GO:0001889 liver development;GO:0006631 fatty acid metabolic process;GO:0042573 retinoic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9HAW9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NUQ3-1", "uniprot_id": "TXLNG_HUMAN", "mass": 60586.0, "length": 528, "protein_name": "Gamma-taxilin", "gene_name": "TXLNG", "organism": "Human", "refseq_name": "gamma-taxilin isoform 2", "refseq_ac": "NP_001162154", "gene_names_uniprotkb": "TXLNG; CXorf15; ELRG; LSR5", "gene_names_refseq": "CXorf15; ELRG; FIAT; LSR5; TXLNGX; TXLNG", "protein_names_uniprotkb": "Gamma-taxilin; Environmental lipopolysaccharide-responding gene protein; FIAT; Factor inhibiting ATF4-mediated transcription; Lipopolysaccharide-specific response protein 5", "protein_names_refseq": "environmental LPS-responding; environmental lipopolysaccharide-responding gene protein; factor inhibiting ATF4-mediated transcription; factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription; gamma-taxilin isoform 2; gamma-taxilin; lipopolysaccharide specific response-5 protein; lipopolysaccharide-specific response protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:55787)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "15184072;15911876;16964243;18068885;18669648;19690332;20068231;21406692;23186163;23301498;24129315;24275569;24714562;24715725;25418920;25645385;26154972;26992070;27846572;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29225051;29242379;29393594;29493099;29508533;29557506;29786170;30315122;30410026;30429286;30524438;31217245;31373491;31844290;32157095;32357974;32502341;32897882;32938616;32983136;33141586;33537174;33592498;33717175;33968037;33981976;34087483;34357683;34932366;35119360;35132862;35251023;35561310;35580925;36010968;37028586", "class_list": "", "function": "Alpha-/gamma-Taxilin are required for centriolar subdistal appendage assembly and microtubule organization. Publication Status: Online-Only, [RefSeq, PubMed]; Evaluation of the effects of a novel environmental lipopolysaccharide-responding (Elrg) gene on the regulation of proliferation and cell cycle of the hepatoma-derived cell line, HepG2, [RefSeq, PubMed]; Identification of isoforms of taxilin; interaction with syntaxin; tissue distribution [beta-taxilin, gamma-taxilin]., [RefSeq, PubMed]; May be involved in intracellular vesicle traffic. Inhibits ATF4-mediated transcription, possibly by dimerizing with ATF4 to form inactive dimers that cannot bind DNA. May be involved in regulating bone mass density through an ATF4-dependent pathway. May be involved in cell cycle progression., [UniProtKB, PubMed, PubMed]; TXLNG improves insulin resistance in obese subjects in vitro and in vivo by inhibiting ATF4 transcriptional activity., [RefSeq, PubMed]; Taken together with the result that gamma-taxilin protein expression levels were decreased at the onset of mitosis, we propose that gamma-taxilin participates in Nek2A-mediated centrosome disjunction as a negative regulator through its interaction with Nek2A., [RefSeq, PubMed]; This gene encodes a member of the taxilin family. The encoded protein binds to the C-terminal coiled-coil region of syntaxin family members 1A, 3A and 4A, and may play a role in intracellular vesicle trafficking. This gene is up-regulated by lipopolysaccharide and the gene product may be involved in cell cycle regulation. The related mouse protein was also shown to inhibit activating transcription factor 4-mediated transcription and thus regulate bone mass accrual. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q2KQ75;Q5JNZ7;Q9P0X1", "ec_number_list": "", "go_molecular_function": "GO:0019905 syntaxin binding;GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0005829 cytosol;GO:0031965 nuclear membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0030500 regulation of bone mineralization;GO:0010564 regulation of cell cycle process;GO:0051726 regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9NUQ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NYZ1-1", "uniprot_id": "TV23B_HUMAN", "mass": 23576.0, "length": 205, "protein_name": "Golgi apparatus membrane protein TVP23 homolog B", "gene_name": "TVP23B", "organism": "Human", "refseq_name": "Golgi apparatus membrane protein TVP23 homolog B isoform b", "refseq_ac": "NP_001303848", "gene_names_uniprotkb": "TVP23B; CGI-148; FAM18B1; FAM18B; NPD008", "gene_names_refseq": "CGI-148; FAM18B1; FAM18B; NPD008; TVP23B; YDR084C", "protein_names_uniprotkb": "Golgi apparatus membrane protein TVP23 homolog B", "protein_names_refseq": "Golgi apparatus membrane protein TVP23 homolog B isoform b; Golgi apparatus membrane protein TVP23 homolog B; family with sequence similarity 18, member B1; family with sequence similarity 18, member B; protein FAM18B1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51030)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "25221423;26992070;27600516;28832583;28834231;29242379;29557506;29632711;29769354;29786170;30315122;31844290;31848261;31998317;32157095;32350084;32502341;32938616;32983136;33592498;33968037;33981976;34932366;35580925", "class_list": "", "function": "The role of FAM18B in regulating retinal microvascular endothelial cell viability, migration, and endothelial tube formation was determined following RNAi-mediated knockdown of FAM18B. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K448;Q96HK5;Q9Y3E6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0016192 vesicle-mediated transport;GO:0009306 protein secretion", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9NYZ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UI38-1", "uniprot_id": "TSP50_HUMAN", "mass": 43088.0, "length": 385, "protein_name": "Probable threonine protease PRSS50", "gene_name": "PRSS50", "organism": "Human", "refseq_name": "probable threonine protease PRSS50 precursor", "refseq_ac": "NP_037402", "gene_names_uniprotkb": "PRSS50; CT20; TSP50", "gene_names_refseq": "CT20; PRSS50; TSP50", "protein_names_uniprotkb": "Probable threonine protease PRSS50; 3.4.25.-; Cancer/testis antigen 20; Serine protease 50; Testis-specific protease-like protein 50", "protein_names_refseq": "cancer/testis antigen 20; probable threonine protease PRSS50 precursor; probable threonine protease PRSS50; protease, serine 50; testes-specific protease 50; testicular tissue protein Li 210; testis-specific protease-like protein 50", "tax_id": 9606, "disease": "", "pathway": " (hsa:29122)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10397268;11782390;15491742;17283160;18462069;28832583;29361914;29557506;33630390;33956530;34016961;34744521;35051231;35472243;35494241", "class_list": "", "function": "Expression of TSP50, SERCA2 and IL-8 in Colorectal Adenoma and Carcinoma: Correlation to Clinicopathological Factors. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in proteolysis through its threonine endopeptidase activity., [UniProtKB, PubMed]; MiR-4709-3p Inhibits Cell Proliferation by Downregulating TSP50 Expression in Breast Cancer Cells., [RefSeq, PubMed]; Overexpression of Sp1 and C/EBPbeta transcriptional factors upregulated the activities of the TSP50 promoter., [RefSeq, PubMed]; TSP50 promotes hepatocyte proliferation and tumour formation by activating glucose-6-phosphate dehydrogenase (G6PD)., [RefSeq, PubMed]; TSP50 promotes the Warburg effect and hepatocyte proliferation via regulating PKM2 acetylation. Publication Status: Online-Only, [RefSeq, PubMed]; TSP50 promotes the proliferation, migration and invasion of gastric cancer cells involving NF-kappaB dependent EMT activation. Targeting TSP50 may provide a novel therapeutic strategy for the management of gastric cancer Publication Status: Online-Only, [RefSeq, PubMed]; TSP50 was largely downregulated in all testicular germ cell tumors. It may function in mammalian spermatogenesis. Its linear catalytic structure is similar to many serine proteases, except for a Thr-for-Ser residual catalytic site substitution., [RefSeq, PubMed]; TSP50, a possible protease in human testes, is activated in breast cancer epithelial cells., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity;GO:0004298 threonine-type endopeptidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0006508 proteolysis;GO:0016485 protein processing", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9UI38-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NLP5-1", "uniprot_id": "TTC36_HUMAN", "mass": 20896.0, "length": 189, "protein_name": "Tetratricopeptide repeat protein 36", "gene_name": "TTC36", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 36 isoform a", "refseq_ac": "NP_001073910", "gene_names_uniprotkb": "TTC36; HBP21", "gene_names_refseq": "HBP21; TTC36", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 36; HSP70-binding protein 21; TPR repeat protein 36", "protein_names_refseq": "HSP70 binding protein 21; TPR repeat protein 36; tetratricopeptide repeat protein 36 isoform a; tetratricopeptide repeat protein 36", "tax_id": 9606, "disease": "", "pathway": " (hsa:143941)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;18587674;26246424;29632046;32265295;35254105", "class_list": "", "function": "As a chaperone of heat shock protein 70 (HSP70), HBP21 could inhibit interaction between HSP70 and Bax, increased Bax protein translocation from cytoplasm to mitochondria., [RefSeq, PubMed]; Heat Shock-Binding Protein 21 Regulates the Innate Immune Response to Viral Infection., [RefSeq, PubMed]; The newly discovered interaction between HBP21 and Hsp70 suggests that HBP21 may be involved in the inhibition of progression and metastasis of tumor cells., [RefSeq, PubMed]; The protein encoded by this gene has three tetratricopeptide repeats and is a chaperone for heat shock protein 70. The encoded protein may function as a tumor suppressor in hepatocellular carcinoma (HCC) since it promotes apoptosis but is downregulated in HCC. [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": 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": "B7ZW72;B9EJD8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0010801 negative regulation of peptidyl-threonine phosphorylation;GO:0006570 tyrosine metabolic process;GO:1902915 negative regulation of protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A6NLP5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "D6R901-1", "uniprot_id": "U17LL_HUMAN", "mass": 59659.0, "length": 530, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 21", "gene_name": "USP17L21", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 17-like protein 21", "refseq_ac": "NP_001243791", "gene_names_uniprotkb": "USP17L21", "gene_names_refseq": "USP17L21", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 21; 3.4.19.12", "protein_names_refseq": "ubiquitin carboxyl-terminal hydrolase 17-like protein 21", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:100287478); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10444327;10982817;11566882;11923872;12917689;12917691;14661020;15053880;15916963;16214042;16901786;16964248;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24896179;25197364;25305019;25578727;7578059", "class_list": "", "function": "Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "3.4.19.12;3.6.4.13;3.1.3.48;3.4.26.1", "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "D6R901-1", "record_type": "protein" }, { "uniprot_canonical_ac": "D6RBM5-1", "uniprot_id": "U17LN_HUMAN", "mass": 20302.0, "length": 183, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 23", "gene_name": "USP17L23", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "USP17L23", "gene_names_refseq": "", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 23", "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:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0016579 protein deubiquitination", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "D6RBM5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "E5RIL1-1", "uniprot_id": "UPKL2_HUMAN", "mass": 28385.0, "length": 263, "protein_name": "Uroplakin-3b-like protein 2", "gene_name": "UPK3BL2", "organism": "Human", "refseq_name": "uroplakin-3b-like protein 2 precursor", "refseq_ac": "NP_001350435", "gene_names_uniprotkb": "UPK3BL2", "gene_names_refseq": "UPK3BL2", "protein_names_uniprotkb": "Uroplakin-3b-like protein 2", "protein_names_refseq": "Uroplakin-3b-like protein 2; uroplakin-3b-like protein 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:100134938); (hsa:107983993)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "28832583;29242379;29393594;30833945;31848261", "class_list": "", "function": "", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "E5RIL1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60656-1", "uniprot_id": "UD19_HUMAN", "mass": 59941.0, "length": 530, "protein_name": "UDP-glucuronosyltransferase 1A9", "gene_name": "UGT1A9", "organism": "Human", "refseq_name": "UDP-glucuronosyltransferase 1A9 precursor", "refseq_ac": "NP_066307", "gene_names_uniprotkb": "UGT1A9; GNT1; UGT1", "gene_names_refseq": "HLUGP4; LUGP4; UDPGT 1-9; UDPGT; UGT-1I; UGT1-09; UGT1-9; UGT1.9; UGT1A9S; UGT1A9; UGT1AI; UGT1I", "protein_names_uniprotkb": "UDP-glucuronosyltransferase 1A9; 2.4.1.17; UDP-glucuronosyltransferase 1-9; UDP-glucuronosyltransferase 1-I; UDPGT 1-9; UGT-1I; UGT1*9; UGT1-09; UGT1.9; UGT1A9; UGT1I; lugP4", "protein_names_refseq": "UDP glucuronosyltransferase 1 family, polypeptide A9; UDP glycosyltransferase 1 family, polypeptide A9; UDP-glucuronosyltransferase 1 family polypeptide A9s; UDP-glucuronosyltransferase 1-9; UDP-glucuronosyltransferase 1-I; UDP-glucuronosyltransferase 1A9 precursor; UDP-glucuronosyltransferase 1A9", "tax_id": 9606, "disease": "cholangiocarcinoma (Disease Ontology:DOID:4947); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:54600); (R-HSA-156588); (R-HSA-1989781); (R-HSA-9749641); (R-HSA-9753281)", "pathway_count": 5, "publication_count": 126, "publication_id_list": "10.1101/2023.09.13.557529;10220572;10434065;10741631;10777541;11267664;11434514;11581266;11714888;12118000;12177166;12181437;12433823;12473676;12505311;12582161;12616642;1339448;13741103;14570768;14616765;15067378;15130092;15135306;15231852;15470161;15472229;15635043;16258079;1634050;1634606;16380219;16595710;16696573;16837570;16858120;1692835;16943252;16959974;16972786;17179145;17482904;17627974;1783992;17924658;18004212;18052085;18052087;18232020;18357469;18540824;18674515;18719978;18848529;19088433;1910331;19204906;19463;19545173;19710929;19836360;19842618;19934321;19951703;20110263;20190787;20610558;21422672;21666065;21712391;22294686;22349737;22406294;22674043;23288867;23682772;24196956;2573352;25840124;26049587;26067475;27556486;28677105;29741879;3082969;31154438;31844290;32387766;32472168;3342084;3395122;34171305;35807350;36571650;3705620;38071562;38211441;39054222;4639028;5013373;5773090;5862532;6654901;6777177;6796486;6838677;6950087;70646;7206363;7469630;7685352;7802672;7892212;7906695;8027054;8276413;8647822;8687483;8813074;9012850;9024171;9080;9144407;931988;9748239;975718", "class_list": "glycogene;glycosyltransferase", "function": "Cytochrome P450 2B6 and UDP-Glucuronosyltransferase Enzyme-Mediated Clearance of Ciprofol (HSK3486) in Humans: The Role of Hepatic and Extrahepatic Metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; Influence of UDP-Glucuronosyltransferase Polymorphisms on Mycophenolic Acid Metabolism in Renal Transplant Patients., [RefSeq, PubMed]; Lacks UGT glucuronidation activity but acts as a negative regulator of isoform 1., [UniProtKB, PubMed, PubMed]; Significance of UGT1A6, UGT1A9, and UGT2B7 genetic variants and their mRNA expression in the clinical outcome of renal cell carcinoma., [RefSeq, PubMed]; This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene is active on phenols. [provided by RefSeq, Jul 2008]., [RefSeq]; UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:12181437, PubMed:15470161, PubMed:15472229, PubMed:18004212, PubMed:18052087, PubMed:18674515, PubMed:19545173, PubMed:15231852, PubMed:21422672, PubMed:38211441). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:12181437, PubMed:18004212). Catalyzes the glucuronidation of endogenous estrogen hormones such as estradiol and estrone (PubMed:15472229). Involved in the glucuronidation of arachidonic acid (AA) and AA-derived eicosanoids including 15-HETE, PGB1 and F2-isoprostanes (8-iso-PGF2alpha and 5-epi-5-F2t-IsoP) (PubMed:15231852, PubMed:38211441). Glucuronates the phytochemical ferulic acid efficiently at both the phenolic or the carboxylic acid group (PubMed:21422672). Also catalyzes the glucuronidation of the isoflavones genistein, daidzein, glycitein, formononetin, biochanin A and prunetin, which are phytoestrogens with anticancer and cardiovascular properties (PubMed:18052087, PubMed:19545173). Involved in the glucuronidation of the AGTR1 angiotensin receptor antagonist caderastan, a drug which can inhibit the effect of angiotensin II (PubMed:18674515). Involved in the biotransformation of 7-ethyl-10-hydroxycamptothecin (SN-38), the pharmacologically active metabolite of the anticancer drug irinotecan (PubMed:12181437, PubMed:20610558). Also metabolizes mycophenolate, an immunosuppressive agent (PubMed:15470161, PubMed:18004212)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; UGT1A1 and UGT1A9 Are Responsible for Phase II Metabolism of Tectorigenin and Irigenin In Vitro. 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": 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": 0, "reported_glycation": 0, "reported_snv": 758, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B8K285;P36509;Q9HAX0", "ec_number_list": "2.4.1.17;2.3.1.48;3.6.4.-;2.4.1.170;2.4.1.185;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:0008194 UDP-glycosyltransferase activity;GO:0004857 enzyme inhibitor activity;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0008210 estrogen metabolic process;GO:0045922 negative regulation of fatty acid metabolic process;GO:0001889 liver development;GO:0042573 retinoic acid metabolic process;GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "O60656-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75310-1", "uniprot_id": "UDB11_HUMAN", "mass": 61038.0, "length": 529, "protein_name": "UDP-glucuronosyltransferase 2B11", "gene_name": "UGT2B11", "organism": "Human", "refseq_name": "UDP-glucuronosyltransferase 2B11 precursor", "refseq_ac": "NP_001064", "gene_names_uniprotkb": "UGT2B11", "gene_names_refseq": "UGT2B11", "protein_names_uniprotkb": "UDP-glucuronosyltransferase 2B11; 2.4.1.17; UDPGT 2B11", "protein_names_refseq": "UDP glucuronosyltransferase 2 family, polypeptide B11; UDP glycosyltransferase 2 family protein; UDP glycosyltransferase 2 family, polypeptide B11; UDP-glucuronosyltransferase 2B11 precursor; UDP-glucuronosyltransferase 2B11; UDPGT 2B11", "tax_id": 9606, "disease": "", "pathway": " (hsa:10720); (R-HSA-156588); (R-HSA-9749641)", "pathway_count": 3, "publication_count": 60, "publication_id_list": "10220572;10434065;11581266;12433823;12616642;1339448;13741103;14570768;15135306;16258079;16837570;16858120;16943252;17482904;1783992;18052085;19545173;19836360;21679149;22294686;22674043;24397554;25840124;26238215;26811146;27556486;27862975;28677105;28832583;29242379;29557506;29786170;30315122;3082969;31154438;31844290;32357974;33298915;3342084;35051231;35580925;3705620;4639028;5013373;5773090;5862532;6654901;6777177;6796486;6838677;7206363;7802672;8027054;8333863;8687483;9144407;9169006;931988;9675083;975718", "class_list": "glycogene;glycosyltransferase", "function": "CYP3A4, CYP3A7, UGT2B11 and UGT2B15 genes are significantly downregulated in melanosis coli., [RefSeq, PubMed]; Significant expression of UGT2B11 was detected in the liver, breast and kidney, and was clearly different from the distribution of UGT2B28, [RefSeq, PubMed]; UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile. Exhibits narrow substrate specificity and very low catalytic activity compared to other UGT2B subfamily members (PubMed:8333863, PubMed:9169006, PubMed:9675083). Preferentially glucuronidates catechol estrogens. Also conjugates estriol and 3alpha-hydroxysteroids with activities 30-90 fold lower than UGT2B7. Shows no activity toward testosterone, hyodeoxycholic acid or most drugs. Physiological role remains unclear due to limited substrate range and low catalytic efficiency (PubMed:9675083)., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1027, "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": "Q3KNV9", "ec_number_list": "2.4.1.17;2.4.1.170;2.4.1.185", "go_molecular_function": "GO:0015020 glucuronosyltransferase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0008210 estrogen metabolic process;GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "O75310-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75795-1", "uniprot_id": "UDB17_HUMAN", "mass": 61095.0, "length": 530, "protein_name": "UDP-glucuronosyltransferase 2B17", "gene_name": "UGT2B17", "organism": "Human", "refseq_name": "UDP-glucuronosyltransferase 2B17 precursor", "refseq_ac": "NP_001068", "gene_names_uniprotkb": "UGT2B17", "gene_names_refseq": "BMND12; UDPGT2B17; UGT2B17", "protein_names_uniprotkb": "UDP-glucuronosyltransferase 2B17; 2.4.1.17; C19-steroid-specific UDP-glucuronosyltransferase; C19-steroid-specific UDPGT; UDPGT 2B17; UGT2B17", "protein_names_refseq": "C19-steroid-specific UDP-glucuronosyltransferase; C19-steroid-specific UDPGT; UDP glucuronosyltransferase 2 family, polypeptide B17; UDP glycosyltransferase 2 family, member B17; UDP-glucuronosyltransferase 2B17 precursor; UDP-glucuronosyltransferase 2B17; UDP-glucuronyltransferase, family 2, beta-17", "tax_id": 9606, "disease": "", "pathway": " (hsa:7367); (R-HSA-156588); (R-HSA-9749641); (R-HSA-9757110)", "pathway_count": 4, "publication_count": 133, "publication_id_list": "10220572;10434065;10484077;10665657;10673364;10729196;11237011;11504826;11581266;11902585;12379510;12433823;12466373;12604685;12616642;12673034;1339448;1352877;1356264;1359686;13741103;14570768;14661924;15135306;15175422;15472518;15904907;16258079;16595710;16837570;16858120;16943252;17200165;17482904;17496542;1783992;18052085;18282684;18513745;18719240;18992858;19022937;19447222;19545173;1968359;19836360;19862647;20190787;20583968;20621639;21490593;22294686;22344233;22674043;23063411;23288867;24397554;24715725;2570070;25800201;25840124;26154972;26208431;2639662;26811146;27411675;27556486;27846572;27920218;28132103;28218747;28677105;2876781;28904123;2898143;29437277;29557506;29769354;29789417;30137266;30315122;30410026;3082969;31154438;31530632;31701669;31844290;32357974;32981041;33141586;33298915;3342084;33717175;33912179;34185709;34361561;34561969;3472246;35051231;3593903;36109518;36347965;3705620;3709632;37174695;38198666;4639028;5013373;5773090;5862532;6492791;6654901;6777177;6796486;6838677;7073761;7195405;7206363;7310640;7400951;7588203;7802672;7865904;8027054;8687483;8798464;9144407;931988;9364925;9543163;9652413;975718;9816258", "class_list": "glycogene;glycosyltransferase", "function": "A Non-Canonical Role for the Glycosyltransferase Enzyme UGT2B17 as a Novel Constituent of the B Cell Receptor Signalosome. Publication Status: Online-Only, [RefSeq, PubMed]; Extensive metabolic consequences of human glycosyltransferase gene knockouts in prostate cancer., [RefSeq, PubMed]; Genes ACOT1, GSTM1, SIGLEC14 and UGT2B17 are identified as highly absent genes in gastric cancer population. Publication Status: Online-Only, [RefSeq, PubMed]; Potential Assessment of UGT2B17 Inhibition by Salicylic Acid in Human Supersomes In Vitro. Publication Status: Online-Only, [RefSeq, PubMed]; Promiscuity and Quantitative Contribution of UGT2B17 in Drug and Steroid Metabolism Determined by Experimental and Computational Approaches., [RefSeq, PubMed]; This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis.[provided by RefSeq, Apr 2010]., [RefSeq]; UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:16595710, PubMed:18719240, PubMed:19022937, PubMed:23288867, PubMed:8798464). Catalyzes the glucuronidation of endogenous steroid hormones such as androgens (epitestosterone, androsterone) and estrogens (estradiol, epiestradiol) (PubMed:16595710, PubMed:18719240, PubMed:19022937, PubMed:23288867, PubMed:8798464)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 662, "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": "2.4.1.17;2.4.1.170;2.4.1.185", "go_molecular_function": "GO:0015020 glucuronosyltransferase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0008210 estrogen metabolic process;GO:0006805 xenobiotic metabolic process;GO:0008202 steroid metabolic process", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "O75795-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95857-1", "uniprot_id": "TSN13_HUMAN", "mass": 22147.0, "length": 204, "protein_name": "Tetraspanin-13", "gene_name": "TSPAN13", "organism": "Human", "refseq_name": "tetraspanin-13", "refseq_ac": "NP_055214", "gene_names_uniprotkb": "TSPAN13; NET6; PRO296; TM4SF13", "gene_names_refseq": "NET-6; NET6; TM4SF13; TSPAN13", "protein_names_uniprotkb": "Tetraspanin-13; Tetraspan NET-6; Transmembrane 4 superfamily member 13; Tspan-13", "protein_names_refseq": "tetraspanin-13; transmembrane 4 superfamily member 13; transmembrane 4 superfamily member tetraspan NET-6; tspan-13", "tax_id": 9606, "disease": "", "pathway": " (hsa:27075)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10.1101/2023.09.13.557529;10931946;12975309;23090970;24190977;27491149;29242379;29393594;29557506;29722072;29741879;30114378;30701690;31004251;32350084;32938616;33592498;35561310;37074911", "class_list": "", "function": "Downregulation of miR-369-3p and consequent upregulation of its target TSPAN13 appear to be involved in pathophysiology of papillary thyroid cancer Publication Status: Online-Only, [RefSeq, PubMed]; Knocking down of TSAPN13 in human TERT overexpressing osteosarcoma cells enhanced the apoptosis of the cells. TSPAN13 knockdown in these cells suppressed mesenchymal properties and enhanced epithelial character., [RefSeq, PubMed]; The expression of PFKFB3, PFKFB4, NAMPT, and TSPAN13 is strongly up-regulated in pediatric glioma., [RefSeq, PubMed]; The expression of tetraspanins NET-6 and CD151 may indicate an alteration of their biological function during neoplastic transformation., [RefSeq, PubMed]; The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]., [RefSeq]; The results suggested that miR-4732-5p may serve as a tumor suppressor in the initiation of breast cancer, but as a tumor promoter in breast cancer progression by targeting TSPAN13., [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": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 8621, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0005246 calcium channel regulator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "O95857-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P19075-1", "uniprot_id": "TSN8_HUMAN", "mass": 26044.0, "length": 237, "protein_name": "Tetraspanin-8", "gene_name": "TSPAN8", "organism": "Human", "refseq_name": "tetraspanin-8", "refseq_ac": "NP_004607", "gene_names_uniprotkb": "TSPAN8; TM4SF3", "gene_names_refseq": "CO-029; TM4SF3; TSPAN8", "protein_names_uniprotkb": "Tetraspanin-8; Transmembrane 4 superfamily member 3; Tspan-8; Tumor-associated antigen CO-029", "protein_names_refseq": "tetraspanin-8; transmembrane 4 superfamily member 3; tspan-8; tumor-associated antigen CO-029", "tax_id": 9606, "disease": "", "pathway": " (hsa:7103)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10.1101/2023.09.13.557529;19159218;23090970;2395876;24190977;24715725;25761241;26992070;27180357;29493099;29557506;31844290;33968037;34185709;34524408;35051231;35197608;35904232;36078095;36951301;37074911;37204469;37535246;37835445;38253038;38430035;38861838;39031113", "class_list": "", "function": "MiR-378a-5p represses Barrett's esophagus cells proliferation, migration and invasion through targeting TSPAN8. Publication Status: Online-Only, [RefSeq, PubMed]; New insights into the role of tetraspanin 6, 7, and 8 in physiology and pathology. Review article, [RefSeq, PubMed]; Overexpression of TSPAN8 in consensus molecular subtype 3 colorectal cancer., [RefSeq, PubMed]; Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling (PubMed:27180357, PubMed:36078095). Participates thereby in diverse biological functions such as cell signal transduction, migration and protein trafficking (PubMed:25761241). Promotes ADAM17-mediated TNF processing through recruitment of ADAM17 to tetraspanin-enriched micro-domains (TEMs) (PubMed:36078095). Forms a complex with RICTOR and integrin alpha3/ITGA3 to mediate mTORC2 activation and AKT1 phosphorylation leading to cell migration (PubMed:25761241). Reduces apoptosis and autophagy induced by high glucose levels through forming a complex with mTOR and RICTOR (PubMed:35904232). Contributes to the maintenance of intestinal epithelial barrier and plays a role in the regulation of intestine inflammation by switching interferon gamma receptor 1/IFNGR1 from clathrin-dependent to lipid raft-dependent endocytosis route to limit STAT1 activation magnitude and duration (PubMed:37204469). Acts as a modulator of the endothelin axis by associating with endothelin converting enzyme ECE1 and regulating its activity of conversion of the endothelin-1 precursor to endothelin (PubMed:37835445)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TSPAN8 regulates EGFR/AKT pathway to enhance metastasis in gastric cancer., [RefSeq, PubMed]; The Transmembrane Protein TM4SF3 Interacts With AR and AR-V7 and is Recruited to AR Target Genes., [RefSeq, PubMed]; The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R7T7;Q9BS78", "ec_number_list": "", "go_molecular_function": "GO:0005178 integrin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030195 negative regulation of blood coagulation", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "P19075-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P22309-1", "uniprot_id": "UD11_HUMAN", "mass": 59591.0, "length": 533, "protein_name": "UDP-glucuronosyltransferase 1A1", "gene_name": "UGT1A1", "organism": "Human", "refseq_name": "UDP-glucuronosyltransferase 1A1 precursor", "refseq_ac": "NP_000454", "gene_names_uniprotkb": "UGT1A1; GNT1; UGT1", "gene_names_refseq": "BILIQTL1; GNT1; HUG-BR1; UDPGT 1-1; UDPGT; UGT1A1; UGT1A; UGT1", "protein_names_uniprotkb": "UDP-glucuronosyltransferase 1A1; 2.4.1.17; Bilirubin-specific UDPGT isozyme 1; UDP-glucuronosyltransferase 1-1; UDP-glucuronosyltransferase 1A isoform 1; UDPGT 1-1; UGT1*1; UGT1-01; UGT1.1; UGT1A1; hUG-BR1", "protein_names_refseq": "UDP glucuronosyltransferase 1 family, polypeptide A1; UDP glycosyltransferase 1 family, polypeptide A1; UDP-glucuronosyltransferase 1-A; UDP-glucuronosyltransferase 1A1 precursor; UDP-glucuronosyltransferase 1A1; UDP-glucuronosyltransferase 1A; UGT-1A; UGT1*1; UGT1-01; UGT1.1; bilirubin UDP-glucuronosyltranserase; bilirubin UDP-glucuronosyltransferase 1-1; bilirubin UDP-glucuronosyltransferase isozyme 1; bilirubin-specific UDPGT isozyme 1", "tax_id": 9606, "disease": "cholelithiasis (Disease Ontology:DOID:10211); cholecystolithiasis (Disease Ontology:DOID:11151); endometrial cancer (Disease Ontology:DOID:1380); breast cancer (Disease Ontology:DOID:1612); hepatitis B (Disease Ontology:DOID:2043); ovarian cancer (Disease Ontology:DOID:2394); Gilbert syndrome (Disease Ontology:DOID:2739); bilirubin metabolic disorder (Disease Ontology:DOID:2741); Crigler-Najjar syndrome (Disease Ontology:DOID:3803); lung non-small cell carcinoma (Disease Ontology:DOID:3908); hematopoietic system disease (Disease Ontology:DOID:74); hyperthyroidism (Disease Ontology:DOID:7998); myeloid leukemia (Disease Ontology:DOID:8692); Crohn's disease (Disease Ontology:DOID:8778); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744); transient familial neonatal hyperbilirubinemia (MONDO:MONDO:0009383); Crigler-Najjar syndrome type 2 (MONDO:MONDO:0011725); obsolete bilirubin, serum level of, quantitative trait locus 1 (MONDO:MONDO:0044270)", "pathway": " (hsa:54658); (R-HSA-156588); (R-HSA-189483); (R-HSA-5579002); (R-HSA-9749641); (R-HSA-9753281)", "pathway_count": 6, "publication_count": 158, "publication_id_list": "10220572;10412811;10421658;10434065;10472535;10620517;10644574;10741631;11013440;11023036;11061796;11134001;11196269;11370628;11397817;11434514;1157293;11581266;11714888;11868392;11968090;12139570;12181437;12402338;12433823;12473676;12616642;1339448;13741103;14550264;14570768;14616765;15001581;15135306;15231852;15245331;15470161;15472229;15586176;15712364;16258079;1634050;1634606;16595710;16696573;16837570;16858120;1692835;16943252;17179145;17187418;17229650;17482904;17496722;17627974;1783992;17924658;18004206;18004212;18052085;18052087;18232020;18357469;18674515;18719240;1898728;19159218;19243019;19414484;19463;19545173;19830808;19836360;19842618;20190787;20610558;21422672;21666065;21712391;21796020;22232210;22294686;22349737;22406294;22674043;22823425;23014115;23099197;23288867;23682772;23992562;24525562;2573352;25840124;26049587;26067475;26716871;27525948;27556486;28677105;29557506;29741879;3082969;31154438;32472168;3342084;3395122;34846842;35051231;3705620;38211441;38733189;38916116;39069255;39128373;39468242;4639028;4980931;5013373;5773090;5862532;6480579;6654901;6777177;6796486;6838677;6950087;70646;7206363;7372607;7469630;7715297;7802672;7906695;7936809;7989045;7989595;8027054;805737;8226884;8276413;8280139;8528206;8687483;8706880;8813074;9024171;9039987;9080;9144407;931988;9497253;9621515;9627603;9639672;975718;9784835;9929972", "class_list": "glycogene;glycosyltransferase", "function": "Analysis of UGT1A1 genotype-phenotype correlation in Chinese patients with gilbert and crigler-Najjar II syndrome., [RefSeq, PubMed]; Lacks UGT glucuronidation activity but acts as a negative regulator of isoform 1., [UniProtKB, PubMed, PubMed, PubMed]; Polycyclic aromatic hydrocarbon and its adducts in peripheral blood: Gene and environment interaction among Chinese population., [RefSeq, PubMed]; The Evaluation of the Genetic Variation Types of the Uridine Diphosphate Glucuronosyl Transferase 1A1 Gene by Next-Generation Sequencing and Their Effects on Bilirubin Levels in Obese Children., [RefSeq, PubMed]; This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]; UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:12181437, PubMed:15472229, PubMed:18004206, PubMed:18004212, PubMed:18719240, PubMed:19830808, PubMed:23288867, PubMed:15231852, PubMed:21422672, PubMed:38211441). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:12181437, PubMed:18004206, PubMed:18004212). Catalyzes the glucuronidation of endogenous estrogen hormones such as estradiol, estrone and estriol (PubMed:15472229, PubMed:18719240, PubMed:23288867). Involved in the glucuronidation of bilirubin, a degradation product occurring in the normal catabolic pathway that breaks down heme in vertebrates (PubMed:17187418, PubMed:18004206, PubMed:19830808, PubMed:24525562). Involved in the glucuronidation of arachidonic acid (AA) and AA-derived eicosanoids including 15-HETE, 20-HETE, PGB1 and F2-isoprostane (8-iso-PGF2alpha) (PubMed:15231852, PubMed:38211441). Involved in the glucuronidation of the phytochemical ferulic acid at the phenolic or the carboxylic acid group (PubMed:21422672). Also catalyzes the glucuronidation the isoflavones genistein, daidzein, glycitein, formononetin, biochanin A and prunetin, which are phytoestrogens with anticancer and cardiovascular properties (PubMed:18052087, PubMed:19545173). Involved in the glucuronidation of the AGTR1 angiotensin receptor antagonist losartan, a drug which can inhibit the effect of angiotensin II (PubMed:18674515). Involved in the biotransformation of 7-ethyl-10-hydroxycamptothecin (SN-38), the pharmacologically active metabolite of the anticancer drug irinotecan (PubMed:12181437, PubMed:18004212, PubMed:20610558)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; UGT1A1 and BLVRA allele and genotype variants in neonatal patients with hyperbilirubinemia in southern China. Publication Status: Online-Only, [RefSeq, PubMed]; [Correlation between the mutation spectrum of the UGT1A1 gene and clinical phenotype in patients with inherited hyperunconjugated bilirubinemia]., [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": 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": 1, "reported_glycation": 0, "reported_snv": 968, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 19, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6NJC3;B8K286", "ec_number_list": "2.4.1.17;2.4.1.170;2.4.1.185", "go_molecular_function": "GO:0008194 UDP-glycosyltransferase activity;GO:0004857 enzyme inhibitor activity;GO:0019899 enzyme binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0034663 endoplasmic reticulum chaperone complex;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0008210 estrogen metabolic process;GO:0045922 negative regulation of fatty acid metabolic process;GO:0001889 liver development;GO:0042573 retinoic acid metabolic process;GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "P22309-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P25874-1", "uniprot_id": "UCP1_HUMAN", "mass": 33005.0, "length": 307, "protein_name": "Mitochondrial brown fat uncoupling protein 1", "gene_name": "UCP1", "organism": "Human", "refseq_name": "mitochondrial brown fat uncoupling protein 1 isoform 1", "refseq_ac": "NP_068605", "gene_names_uniprotkb": "UCP1; SLC25A7; UCP", "gene_names_refseq": "SLC25A7; UCP1; UCP", "protein_names_uniprotkb": "Mitochondrial brown fat uncoupling protein 1; Solute carrier family 25 member 7; Thermogenin; UCP 1", "protein_names_refseq": "mitochondrial brown fat uncoupling protein 1 isoform 1; mitochondrial brown fat uncoupling protein 1; solute carrier family 25 member 7; thermogenin; uncoupling protein 1 (mitochondrial, proton carrier)", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); prediabetes syndrome (Disease Ontology:DOID:11716); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:7350); (R-HSA-166187); (R-HSA-167826); (R-HSA-9844594)", "pathway_count": 4, "publication_count": 18, "publication_id_list": "11317671;11709078;12756473;23266187;2380264;24196960;28781081;31341297;3165741;32488085;37256948;37336486;37449547;38069028;38917410;39072954;8576230;8626410", "class_list": "", "function": "Comparative functional analysis reveals differential nucleotide sensitivity between human and mouse UCP1., [RefSeq, PubMed]; Loss of Uncoupling Protein 1 Expression in the Subcutaneous Adipose Tissue Predicts Childhood Obesity. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial protein responsible for thermogenic respiration, a specialized capacity of brown adipose tissue and beige fat that participates in non-shivering adaptive thermogenesis to temperature and diet variations and more generally to the regulation of energy balance (By similarity). Functions as a long-chain fatty acid/LCFA and proton symporter, simultaneously transporting one LCFA and one proton through the inner mitochondrial membrane (PubMed:24196960, PubMed:28781081). However, LCFAs remaining associated with the transporter via their hydrophobic tails, it results in an apparent transport of protons activated by LCFAs. Thereby, dissipates the mitochondrial proton gradient and converts the energy of substrate oxydation into heat instead of ATP. Regulates the production of reactive oxygen species/ROS by mitochondria (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Mitochondrial uncoupling proteins (UCP) are members of the family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed only in brown adipose tissue, a specialized tissue which functions to produce heat. [provided by RefSeq, Jul 2008]., [RefSeq]; Structural basis for the binding of DNP and purine nucleotides onto UCP1., [RefSeq, PubMed]; Structural basis of purine nucleotide inhibition of human uncoupling protein 1., [RefSeq, PubMed]; UCP1 expression in human brown adipose tissue is inversely associated with cardiometabolic risk factors., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 5, "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": "Q13218;Q4KMZ3;Q68G66", "ec_number_list": "", "go_molecular_function": "GO:0036041 long-chain fatty acid binding;GO:0005525 GTP binding;GO:0022857 transmembrane transporter activity;GO:0019003 GDP binding;GO:0015078 proton transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0070417 cellular response to cold;GO:0009409 response to cold;GO:0050873 brown fat cell differentiation;GO:0031667 response to nutrient levels;GO:0009266 response to temperature stimulus", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "P25874-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35504-1", "uniprot_id": "UD15_HUMAN", "mass": 60071.0, "length": 534, "protein_name": "UDP-glucuronosyltransferase 1A5", "gene_name": "UGT1A5", "organism": "Human", "refseq_name": "UDP-glucuronosyltransferase 1A5 precursor", "refseq_ac": "NP_061951", "gene_names_uniprotkb": "UGT1A5; GNT1; UGT1", "gene_names_refseq": "UDPGT 1-5; UDPGT; UGT1A5; UGT1E", "protein_names_uniprotkb": "UDP-glucuronosyltransferase 1A5; 2.4.1.17; UDP-glucuronosyltransferase 1-5; UDP-glucuronosyltransferase 1-E; UDPGT 1-5; UGT-1E; UGT1*5; UGT1-05; UGT1.5; UGT1A5; UGT1E", "protein_names_refseq": "UDP glucuronosyltransferase 1 family, polypeptide A5; UDP glycosyltransferase 1 family, polypeptide A5; UDP-glucuronosyltransferase 1 family polypeptide A5s; UDP-glucuronosyltransferase 1-5; UDP-glucuronosyltransferase 1-E; UDP-glucuronosyltransferase 1A5 precursor; UDP-glucuronosyltransferase 1A5; UGT-1E; UGT1*5", "tax_id": 9606, "disease": "", "pathway": " (hsa:54579); (R-HSA-156588); (R-HSA-9749641)", "pathway_count": 3, "publication_count": 53, "publication_id_list": "10220572;10434065;11434514;11581266;12433823;12616642;1339448;13741103;14570768;14616765;15135306;16258079;1634050;1634606;16837570;16858120;1692835;16943252;17482904;1783992;18004212;18052085;18674515;19545173;19836360;22294686;22674043;25840124;27556486;28677105;29557506;29710432;29741879;3082969;3342084;3705620;4639028;5013373;5773090;5862532;6654901;6777177;6796486;6838677;7206363;7802672;7906695;8027054;8276413;8687483;9144407;931988;975718", "class_list": "glycogene;glycosyltransferase", "function": "Extensive molecular dynamics simulations revealed that the Gly259Arg mutation stabilizes helix Q through a newly formed hydrogen bonding network, which places the cofactor in a much more favorable geometry in UGT1A5*8 as compared to the wild-type., [RefSeq, PubMed]; Lacks UGT glucuronidation activity but acts as a negative regulator of isoform 1., [UniProtKB, PubMed]; This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. [provided by RefSeq, Jul 2008]., [RefSeq]; UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:18674515). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:18674515). Involved in the glucuronidation of the AGTR1 angiotensin receptor antagonist zolarsatan, a drug which can inhibit the effect of angiotensin II (PubMed:18674515)., [UniProtKB, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 746, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B8K294", "ec_number_list": "2.4.1.17;2.4.1.170;2.4.1.185", "go_molecular_function": "GO:0008194 UDP-glycosyltransferase activity;GO:0004857 enzyme inhibitor activity;GO:0019899 enzyme binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0008210 estrogen metabolic process;GO:0001889 liver development;GO:0016125 sterol metabolic process;GO:0071385 cellular response to glucocorticoid stimulus;GO:0051552 flavone metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "P35504-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P36537-1", "uniprot_id": "UDB10_HUMAN", "mass": 60774.0, "length": 528, "protein_name": "UDP-glucuronosyltransferase 2B10", "gene_name": "UGT2B10", "organism": "Human", "refseq_name": "UDP-glucuronosyltransferase 2B10 isoform 1 precursor", "refseq_ac": "NP_001066", "gene_names_uniprotkb": "UGT2B10", "gene_names_refseq": "UDPGT2B10; UGT2B10", "protein_names_uniprotkb": "UDP-glucuronosyltransferase 2B10; 2.4.1.17; UDPGT 2B10", "protein_names_refseq": "UDP glucuronosyltransferase 2 family, polypeptide B10; UDP-glucuronosyltransferase 2B10 isoform 1 precursor; UDP-glucuronosyltransferase 2B10; UDPGT 2B10", "tax_id": 9606, "disease": "", "pathway": " (hsa:7365); (R-HSA-156588); (R-HSA-9749641)", "pathway_count": 3, "publication_count": 58, "publication_id_list": "10220572;10434065;11581266;12433823;12616642;1339448;13741103;14570768;15135306;16258079;16335952;16837570;16858120;16943252;17482904;17576790;1783992;17909004;18052085;18238858;18300939;19159218;19545173;19836360;20133892;22294686;22674043;25840124;26992070;27556486;28677105;28803208;29460622;29557506;29691239;3082969;32532831;3342084;36215666;3705620;37074911;37946357;4639028;5013373;5773090;5862532;6654901;6777177;6796486;6838677;7206363;7802672;8027054;8333863;8687483;9144407;931988;975718", "class_list": "glycogene;glycosyltransferase", "function": "Data suggest that UGT2B10 is the major hepatic enzyme involved in nicotine/cotinine glucuronidation and that the UGT2B10*2 variant reduces nicotine- and cotinine-N-glucuronidation formation and plays a role in nicotine metabolism and elimination., [RefSeq, PubMed]; Nicotine glucuronidation and UGT2B10 is reported., [RefSeq, PubMed]; The UGT2B10(67Tyr) variant corresponding to haplotype C is a functional single nucleotide polymorphism that may be responsible for inter individual variation in NNAL-N-glucuronidation activity and may increase susceptibility to smoking-related cancers. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The high prevalence of a UGT2B10 splice variant among African Americans results in lower 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanol (NNAL), - N-glucuronidation but only a small decrease in total NNAL glucuronidation. Therefore, despite the significant contribution of UGT2B10 to NNAL- N-glucuronidation, the UGT2B10 genotype does not play a large role in NNAL detoxication., [RefSeq, PubMed]; UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:17576790, PubMed:18238858, PubMed:28803208). Specialized in N-glucuronidation of tertiary amine-containing drugs and xenobiotics (PubMed:20133892, PubMed:28803208). Catalyzes N-glucuronidation of tobacco alkaloids, tobacco-specific nitrosamines, tricyclic antidepressants and compounds containing imidazole groups (PubMed:17576790, PubMed:18238858, PubMed:18300939, PubMed:20133892, PubMed:28803208). Major enzyme responsible for detoxification of tobacco-specific nitrosamines (PubMed:18238858, PubMed:18300939). Shows strong preference for tertiary aliphatic and cyclic amines over secondary or primary amines (PubMed:20133892, PubMed:28803208). Does not glucuronidate steroids, hyodeoxycholic acid, or phenolic xenobiotics (PubMed:8333863)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; UGT2B10 Genotype Influences Serum Cotinine Levels and Is a Primary Determinant of Higher Cotinine in African American Smokers., [RefSeq, PubMed]; UGT2B10 was for the first time identified as an N-glucosidation enzyme. Generated N-glucosides were excreted primarily by the BCRP transporter., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 905, "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": "A8K9M3;B4DPP1;Q14CR8", "ec_number_list": "2.4.1.17;2.4.1.170;2.4.1.185", "go_molecular_function": "GO:0008194 UDP-glycosyltransferase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0008210 estrogen metabolic process;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "P36537-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q0WX57-1", "uniprot_id": "U17LO_HUMAN", "mass": 59711.0, "length": 530, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 24", "gene_name": "USP17L24; USP17L25; USP17L26; USP17L27; USP17L28; USP17L29; USP17L30", "organism": "Human", "refseq_name": "ubiquitin specific peptidase 17 like family member 25", "refseq_ac": "NP_001229255", "gene_names_uniprotkb": "USP17L24; USP17L25; USP17L26; USP17L27; USP17L28; USP17L29; USP17L30; USP17H; USP17I; USP17J; USP17K; USP17L; USP17M; USP17", "gene_names_refseq": "USP17L25", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 17-like protein 24; 3.4.19.12; Deubiquitinating enzyme 17; Ubiquitin thioesterase 17; Ubiquitin-specific-processing protease 17", "protein_names_refseq": "ubiquitin specific peptidase 17 like family member 25", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:728369); (hsa:728373); (hsa:728379); (hsa:728393); (hsa:728400); (hsa:728405); (hsa:728419); (R-HSA-5689880)", "pathway_count": 8, "publication_count": 65, "publication_id_list": "10444327;10936051;10982817;11566882;11923872;11941478;12917689;12917691;14661020;15053880;15780755;15916963;16214042;16901786;16964248;17109758;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20096447;20228808;20368735;20403174;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24896179;25197364;25305019;25578727;29242379;33592498;7578059", "class_list": "", "function": "Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MRA9;Q0WX56;Q3BEM1", "ec_number_list": "3.4.19.12;3.6.4.13;3.1.3.48;3.4.26.1", "go_molecular_function": "GO:0003723 RNA binding;GO:0004843 cysteine-type deubiquitinase activity;GO:0005540 hyaluronic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006915 apoptotic process;GO:0031647 regulation of protein stability;GO:0042981 regulation of apoptotic process;GO:1904037 positive regulation of epithelial cell apoptotic process;GO:0071947 protein deubiquitination involved in ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q0WX57-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15695-1", "uniprot_id": "U2AFL_HUMAN", "mass": 57643.0, "length": 479, "protein_name": "U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1", "gene_name": "ZRSR2P1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ZRSR2P1; U2AF1-RS1; U2AF1L1; U2AF1P; U2AF1RS1; U2AFBPL; ZRSR1", "gene_names_refseq": "", "protein_names_uniprotkb": "U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1; U2(RNU2) small nuclear RNA auxiliary factor 1-like 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "32357974;8586425;8630064", "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": 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": "B2R901;Q13570;Q2M3R8", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0030628 pre-mRNA 3'-splice site binding", "go_cellular_component": "GO:0005681 spliceosomal complex;GO:0089701 U2AF complex", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q15695-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VY80-1", "uniprot_id": "ULBP6_HUMAN", "mass": 27509.0, "length": 246, "protein_name": "UL16-binding protein 6", "gene_name": "RAET1L", "organism": "Human", "refseq_name": "UL16-binding protein 6 precursor", "refseq_ac": "NP_570970", "gene_names_uniprotkb": "RAET1L; ULBP6", "gene_names_refseq": "RAET1L; ULBP6", "protein_names_uniprotkb": "UL16-binding protein 6; Retinoic acid early transcript 1L protein", "protein_names_refseq": "UL16 binding protein 6; UL16-binding protein 6 precursor; retinoic acid early transcript 1L protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:154064); (R-HSA-163125)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "10.1101/2023.09.13.557529;11072085;11827464;19658097;19688209;20219610;20237496;23025544;23090970;24190977;2443973;25212604;28559451;31302457;3422494;35051231", "class_list": "", "function": "Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity., [UniProtKB, PubMed, PubMed]; From genomic variation to protein aberration: Mutational analysis of single nucleotide polymorphism present in ULBP6 gene and implication in immune response., [RefSeq, PubMed]; Genetic polymorphism among the ethnic groups GeneRIF: Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; Here, we show that a sixth gene, ULBP6/RAET1L, is a polymorphic locus that expresses a functional transcript, [RefSeq, PubMed]; Human anaplastic thyroid carcinoma cells are sensitive to NK cell-mediated lysis via ULBP2/5/6 and chemoattract NK cells., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; RAET1L belongs to the RAET1 family of major histocompatibility complex (MHC) class I-related genes, which are located within a 180-kb cluster on chromosome 6q24.2-q25.3. The REAT1 genes encode glycoproteins that contain extracellular alpha-1 and alpha-2 domains, but they lack the membrane proximal Ig-like alpha-3 domain. Most RAET1 glycoproteins are anchored to the membrane via glycosylphosphatidylinositol (GPI) linkage (Radosavljevic et al., 2002 [PubMed 11827464]).[supplied by OMIM, Mar 2008]., [RefSeq]; RAET1L may have an important influence on regulating the strength of the alloreactive immune response in hematologic maliganacies treated with allogeneic stem cell transplantation., [RefSeq, PubMed]; ULBP6 polymorphisms affect the strength of human lymphocyte responses to cellular stress signals and is increased in abundance in hematopoietic tumors. 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": 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": 0, "reported_glycation": 0, "reported_snv": 6, "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": "A3KME4;Q8TE74", "ec_number_list": "", "go_molecular_function": "GO:0046703 natural killer cell lectin-like receptor binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0002476 antigen processing and presentation of endogenous peptide antigen via MHC class Ib;GO:0002486 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent;GO:0001916 positive regulation of T cell mediated cytotoxicity;GO:0042267 natural killer cell mediated cytotoxicity", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q5VY80-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6P2S7-1", "uniprot_id": "TTC41_HUMAN", "mass": 151684.0, "length": 1318, "protein_name": "Putative tetratricopeptide repeat protein 41", "gene_name": "TTC41P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TTC41P; GNN", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative tetratricopeptide repeat protein 41; Grp94-neighboring nucleotidase; TPR repeat protein 41", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 8, "publication_id_list": "30379171;31530632;32161166;32938616;33091337;33936100;35051231;35254053", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q05DD4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q6P2S7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WVF2-1", "uniprot_id": "UCMA_HUMAN", "mass": 16563.0, "length": 138, "protein_name": "Unique cartilage matrix-associated protein", "gene_name": "UCMA", "organism": "Human", "refseq_name": "upper zone of growth plate and cartilage matrix-associated protein isoform 2 precursor", "refseq_ac": "NP_001290047", "gene_names_uniprotkb": "UCMA; C10orf49", "gene_names_refseq": "C10orf49; GRP/UCMA; GRP; UCMA", "protein_names_uniprotkb": "Unique cartilage matrix-associated protein; GRP; Gla-rich protein", "protein_names_refseq": "Gla-rich protein; unique cartilage matrix-associated protein; upper zone of growth plate and cartilage matrix-associated protein isoform 2 precursor; upper zone of growth plate and cartilage matrix-associated protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:221044); (R-HSA-8940973)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "11106645;11237011;11545733;12231506;12391164;12529404;14765127;16025100;16099986;16176871;16751105;17707622;18156182;18477452;18836183;19389811;19801668;20686481;20877012;21173110;24409676;24867294;25865393;26967290;27797343;32768190;33448308;7891679;9182762", "class_list": "", "function": "Data suggest that novel splice variants of GRP are expressed in cartilage and other tissues (i.e. GRP-F5, GRP-F6); GRP-F1 is predominant splice variant expressed in adult tissues particularly in cartilage of patients with osteoarthritis., [RefSeq, PubMed]; Full exon resequencing of DNA samples from 17 chronic kidney disease patients (stage 5) and 121 healthy controls in a Swsedish population; the 138Thr > Ser polymorphism seems to be the only non-synonymous SNP found in the UCMA gene in a Swedish population, [RefSeq, PubMed]; Gla-rich protein (GRP) is a new vitamin K-dependent protein that can bind calcium through Gla residues., [RefSeq, PubMed]; May be involved in the negative control of osteogenic differentiation of osteochondrogenic precursor cells in peripheral zones of fetal cartilage and at the cartilage-bone interface., [UniProtKB, UniProtKB, UniProtKB]; Role of emerging vitamin Kdependent proteins: Growth arrestspecific protein 6, Glarich protein and periostin (Review). Review article, [RefSeq, PubMed]; The present data strongly suggest an important function of Ucma in the early phase of chondrocyte differentiation., [RefSeq, PubMed]; This gene encodes a chondrocyte-specific, highly charged protein that is abundantly expressed in the upper immature zone of fetal and juvenile epiphyseal cartilage. The encoded protein undergoes proteolytic processing to generate a mature protein that is secreted into the extracellular matrix. The glutamic acid residues in the encoded protein undergo gamma carboxylation in a vitamin K-dependent manner. Undercarboxylation of the encoded protein is associated with osteoarthritis in humans. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]., [RefSeq]; Ucma may be involved in the negative control of osteogenic differentiation of osteochondrogenic precursor cells, [RefSeq, PubMed]; Unique cartilage matrix-associated protein inhibits the migratory and invasive potential of triple-negative breast cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0036122 BMP binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031012 extracellular matrix", "go_biological_process": "GO:0045667 regulation of osteoblast differentiation;GO:0048706 embryonic skeletal system development;GO:0060392 negative regulation of SMAD protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q8WVF2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969E3-1", "uniprot_id": "UCN3_HUMAN", "mass": 17961.0, "length": 161, "protein_name": "Urocortin-3", "gene_name": "UCN3", "organism": "Human", "refseq_name": "urocortin-3 preproprotein", "refseq_ac": "NP_444277", "gene_names_uniprotkb": "UCN3; SPC", "gene_names_refseq": "SCP; SPC; UCN3; UCNIII", "protein_names_uniprotkb": "Urocortin-3; Stresscopin; Ucn III; Urocortin III", "protein_names_refseq": "prepro-urocortin 3; stresscopin; ucn III; urocortin III; urocortin-3 preproprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:114131); (R-HSA-373080)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10097073;11297558;11329063;11416224;12098667;12559132;14519439;14764822;15498814;16602827;18052377;18801728;20966082;26350463;27262310;27275843;27754786;30078552;31893569;32928873;35065098;3616618;36201618;37938771;6950381;7797535;8082781;8198617;8386612;8397094;8557170;8612563;8732687;8770894;8906787;9064337", "class_list": "", "function": "Antiamnesic properties of analogs and mimetics of the tripeptide human urocortin 3, [RefSeq, PubMed]; CRH-R1:CRH-R2 ratio varied according to fat-depot type; whereas CRH-R1 expression was higher in sc fat than in visceral fat, the opposite was true for CRH-R2., [RefSeq, PubMed]; Examination of the local and systemic cardiovascular effects of urocortin 2 and urocortin 3 in healthy subjects and patients with heart failure, [RefSeq, PubMed]; Hormone that plays a central role in whole body adaptation to stress (PubMed:11329063, PubMed:11416224). Released by the hypothalamus primarily in response to physical or psychological stress and acts by binding to CRH receptor CRHR2 (PubMed:11329063, PubMed:11416224, PubMed:20966082, PubMed:26350463). UCN3-dependent signaling plays a key role in the metabolic regulation and energy homeostasis in responses to stress, acting as an anxiolytic (PubMed:11329063, PubMed:11416224). Promotes energy balance by reducing food intake, improving insulin sensitivity and managing blood glucose levels in response to metabolic stress (By similarity). In contrast to CRH and UCN, does not activate the hypothalamus-pituitary-adrenal axis to promote corticotropin hormone (ACTH) production (PubMed:11329063)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; In summary, cardiac expression of CRFR1, CRF, and Ucn3 genes is elevated in heart failure and may contribute to the activation of the CRF/Ucn system in these patients., [RefSeq, PubMed]; Increased urocortin 3 levels are associated with the risk of having type 2 diabetes mellitus., [RefSeq, PubMed]; SCP and UCN are potent activators of the p42/44 MAPK pathway, with SRP able to induce phosphorylation of p42/44 MAPK as well, albeit not as pronounced, [RefSeq, PubMed]; This gene encodes a member of the sauvagine/corticotropin-releasing factor/urotensin I family of proteins. The encoded preproprotein is proteolytically processed to generate the mature peptide hormone, which is secreted by pancreatic beta and alpha cells. This hormone is an endogenous ligand for corticotropin-releasing factor receptor 2 and may regulate insulin secretion in response to plasma glucose levels. Patients with type 2 diabetes exhibit reduced levels of the encoded protein in beta cells. In the brain, the encoded protein may be responsible for the effects of stress on appetite. [provided by RefSeq, May 2016]., [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": 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": "Q496H2;Q5SR91", "ec_number_list": "", "go_molecular_function": "GO:0051429 corticotropin-releasing hormone receptor binding;GO:0005179 hormone activity;GO:0051431 corticotropin-releasing hormone receptor 2 binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0043679 axon terminus;GO:0043196 varicosity", "go_biological_process": "GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0032024 positive regulation of insulin secretion;GO:0042594 response to starvation;GO:0071456 cellular response to hypoxia;GO:0009755 hormone-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q969E3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96RP3-1", "uniprot_id": "UCN2_HUMAN", "mass": 12146.0, "length": 112, "protein_name": "Urocortin-2", "gene_name": "UCN2", "organism": "Human", "refseq_name": "urocortin-2 preproprotein", "refseq_ac": "NP_149976", "gene_names_uniprotkb": "UCN2; SRP; URP", "gene_names_refseq": "SRP; UCN-II; UCN2; UCNI; URP; UR", "protein_names_uniprotkb": "Urocortin-2; Stresscopin-related peptide; Ucn II; Urocortin II; Urocortin-related peptide", "protein_names_refseq": "prepro-urocortin 2; stresscopin-related peptide; ucn II; urocortin II; urocortin-2 preproprotein; urocortin-related peptide", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); hypertension (Disease Ontology:DOID:10763); atherosclerosis (Disease Ontology:DOID:1936); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:90226); (R-HSA-373080)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "10097073;11297558;11329063;12098667;12559132;14519439;15498814;16602827;18052377;18801728;20966082;23493376;25645385;27275843;27600516;28550160;29499655;31443094;31925709;32488085;3616618;6950381;7797535;8082781;8198617;8386612;8397094;8557170;8612563;8732687;8770894;8906787;9064337", "class_list": "", "function": "Data show that corticotropin releasing hormone receptor 2 (Crhr2) protein is abundantly expressed in the heart, and plasma Ucn2 levels were higher in patients with heart failure compared to healthy controls, indicating that endogenous Crhr2 is associated with heart failure., [RefSeq, PubMed]; Examination of the local and systemic cardiovascular effects of urocortin 2 and urocortin 3 in healthy subjects and patients with heart failure, [RefSeq, PubMed]; Hormone that plays a central role in whole body adaptation to stress (PubMed:11329063). Released by the hypothalamus primarily in response to physical or psychological stress and acts by binding to CRH receptor CRHR2 (PubMed:20966082). UCN2-dependent signaling regulates cardiovascular function, promotes skeletal muscle hypertrophy and manage energy balance and acts as an anorexigenic agent (By similarity). In contrast to CRH and UCN, does not activate the hypothalamus-pituitary-adrenal axis to promote corticotropin hormone (ACTH) production (PubMed:11329063)., [UniProtKB, PubMed, UniProtKB, PubMed]; Laryngeal cancer cells were enriched in the recurrent chimera COL7A1-UCN2, which potentially affected cancer stem cell transition Publication Status: Online-Only, [RefSeq, PubMed]; SCP and UCN are potent activators of the p42/44 MAPK pathway, with SRP able to induce phosphorylation of p42/44 MAPK as well, albeit not as pronounced, [RefSeq, PubMed]; This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II. [provided by RefSeq, Jul 2008]., [RefSeq]; Ucn2 may be an important element in the mosaic of blood pressure-lowering factors in patients treated for essential hypertension., [RefSeq, PubMed]; Urocortin-2 levels were elevated in hypertensive patients and correlated with left ventricular mass index in those 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": 0, "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": "Q9BUG0", "ec_number_list": "", "go_molecular_function": "GO:0051429 corticotropin-releasing hormone receptor binding;GO:0042562 hormone binding;GO:0005179 hormone activity;GO:0051431 corticotropin-releasing hormone receptor 2 binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0009755 hormone-mediated signaling pathway;GO:0007586 digestion;GO:0031669 cellular response to nutrient levels", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q96RP3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BXU2-1", "uniprot_id": "TX13B_HUMAN", "mass": 33967.0, "length": 312, "protein_name": "Testis-expressed protein 13B", "gene_name": "TEX13B", "organism": "Human", "refseq_name": "testis-expressed protein 13B", "refseq_ac": "NP_112563", "gene_names_uniprotkb": "TEX13B", "gene_names_refseq": "TEX13B; TGC3B; TSGA5", "protein_names_uniprotkb": "Testis-expressed protein 13B", "protein_names_refseq": "testis expressed sequence 13B; testis-expressed protein 13B; testis-expressed sequence 13B protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:56156)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11279525", "class_list": "", "function": "This gene is similar to a mouse gene that is expressed in the testis. [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": "Q5JYF6", "ec_number_list": "", "go_molecular_function": "GO:0003729 mRNA binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9BXU2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZM4-1", "uniprot_id": "ULBP3_HUMAN", "mass": 27949.0, "length": 244, "protein_name": "UL16-binding protein 3", "gene_name": "ULBP3", "organism": "Human", "refseq_name": "UL16-binding protein 3 precursor", "refseq_ac": "NP_078794", "gene_names_uniprotkb": "ULBP3; N2DL3; RAET1N", "gene_names_refseq": "N2DL-3; NKG2DL3; RAET1N; ULBP3", "protein_names_uniprotkb": "UL16-binding protein 3; ALCAN-gamma; N2DL-3; NKG2D ligand 3; NKG2DL3; Retinoic acid early transcript 1N", "protein_names_refseq": "ALCAN-gamma; NKG2D ligand 3; UL16-binding protein 3 precursor; retinoic acid early transcript 1N", "tax_id": 9606, "disease": "", "pathway": " (hsa:79465); (R-HSA-198933)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10499918;10746781;11239445;11265639;11489943;11491531;11513152;11556966;11754823;11777960;11807247;11827464;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12753652;14719373;14970179;15034010;15136729;15155468;15187158;15304001;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;20530255;20730098;21241660;21800138;21841309;21877119;22396535;23584533;23695528;23929856;24305946;24715725;25576301;25703557;25716998;25813380;26284469;26300885;27142445;29242379;29314611;30459171;30779550;32157095;32161166;33968037;34171305;34357683;35051231;35289036;36241641;38780505;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is one of several related ligands of the KLRK1/NKG2D receptor, which is found in primary NK cells. Binding of these ligands to the receptor activates several signal transduction pathways, including the JAK2, STAT5, and ERK pathways. The encoded protein is expressed solubly and on the surface of many tumor cells, making it potentially an important target for therapeutics. [provided by RefSeq, Nov 2015]., [RefSeq]; This study shows an increase in ULBP3 level in alopecia areata incognita patients, which positively correlates with the age and duration of the disease, [RefSeq, PubMed]; ULBP3 binds to the NGK2D receptor and activates multiple signaling pathways in primary natural killer cells., [RefSeq, PubMed]; Unveiling the role of the KLF4/Lnc18q22.2/ULBP3 axis in the tumorigenesis and immune escape of hepatocellular carcinoma under hypoxic condition., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q5VY82;Q8IZX5;Q8TE75", "ec_number_list": "", "go_molecular_function": "GO:0046703 natural killer cell lectin-like receptor binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0002476 antigen processing and presentation of endogenous peptide antigen via MHC class Ib;GO:0002486 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent;GO:0001916 positive regulation of T cell mediated cytotoxicity;GO:0030101 natural killer cell activation;GO:0042267 natural killer cell mediated cytotoxicity", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q9BZM4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H1Z9-1", "uniprot_id": "TSN10_HUMAN", "mass": 36644.0, "length": 355, "protein_name": "Tetraspanin-10", "gene_name": "TSPAN10", "organism": "Human", "refseq_name": "tetraspanin-10 isoform a", "refseq_ac": "NP_114151", "gene_names_uniprotkb": "TSPAN10; OCSP", "gene_names_refseq": "OCSP; TSPAN10", "protein_names_uniprotkb": "Tetraspanin-10; Oculospanin; Tspan-10", "protein_names_refseq": "oculospanin; tetraspanin-10 isoform a; tspan-10", "tax_id": 9606, "disease": "", "pathway": " (hsa:83882)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "12107410;23481700;25576301;30779550;31073882;31154438;32488085;33592498;34357683;37516108;41018975", "class_list": "", "function": "Genetic variant within the TSPAN10 gene is associated with strabismus., [RefSeq, PubMed]; Part of TspanC8 subgroup, composed of 6 members that interact with the transmembrane metalloprotease ADAM10. This interaction is required for ADAM10 exit from the endoplasmic reticulum and for enzymatic maturation and trafficking to the cell surface as well as substrate specificity. Different TspanC8/ADAM10 complexes have distinct substrates., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A087X235;Q8N548", "ec_number_list": "", "go_molecular_function": "GO:0019899 enzyme binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0072594 establishment of protein localization to organelle", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9H1Z9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HAW8-1", "uniprot_id": "UD110_HUMAN", "mass": 59810.0, "length": 530, "protein_name": "UDP-glucuronosyltransferase 1A10", "gene_name": "UGT1A10", "organism": "Human", "refseq_name": "UDP-glucuronosyltransferase 1A10 precursor", "refseq_ac": "NP_061948", "gene_names_uniprotkb": "UGT1A10; GNT1; UGT1", "gene_names_refseq": "UGT-1J; UGT1-10; UGT1.10; UGT1A10; UGT1J", "protein_names_uniprotkb": "UDP-glucuronosyltransferase 1A10; 2.4.1.17; UDP-glucuronosyltransferase 1-10; UDP-glucuronosyltransferase 1-J; UDPGT 1-10; UGT-1J; UGT1*10; UGT1-10; UGT1.10; UGT1A10; UGT1J", "protein_names_refseq": "UDP glucuronosyltransferase 1 family, polypeptide A10; UDP glycosyltransferase 1 family, polypeptide A10; UDP-glucuronosyltransferase 1-10; UDP-glucuronosyltransferase 1-J; UDP-glucuronosyltransferase 1A10 precursor; UDP-glucuronosyltransferase 1A10", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:54575); (R-HSA-156588); (R-HSA-9753281)", "pathway_count": 3, "publication_count": 77, "publication_id_list": "10741631;11434514;11714888;12181437;12433823;12473676;1339448;14570768;14616765;15135306;15231852;15472229;15618702;16258079;1634050;1634606;16696573;1692835;17074750;17179145;17627974;17924658;18004212;18052085;18052087;18232020;18357469;18674515;18719240;19463;19545173;19842618;20190787;20610558;21422672;21666065;21712391;22294686;22349737;22406294;23288867;23682772;24397554;24822274;25264962;25547628;2573352;26049587;26067475;26220143;27556486;28904123;29519853;29741879;3082969;32472168;32938616;33592498;3395122;33968037;34087483;34171305;35051231;4639028;6654901;6796486;6950087;70646;7469630;7906695;8027054;8276413;8687483;8813074;9024171;9080;9271343", "class_list": "glycogene;glycosyltransferase", "function": "A graphene nanocage with regulatable space for the assembly of a CYP1A2-UGT1A10 bienzyme complex has been constructed via a click reaction, and used to study drug sequential metabolism using an electrochemically-driven method., [RefSeq, PubMed]; In further studies with UGT1A10, mutant F93G exhibited increased glucuronidation rates of 16alpha-hydroxyestrone, but not estrone, [RefSeq, PubMed]; Lacks UGT glucuronidation activity but acts as a negative regulator of isoform 1., [UniProtKB, PubMed, PubMed]; Studies lead to a model for the developmental patterning of UGT1A8, UGT1A9, and UGT1A10 in hepatic and/or extrahepatic tissues involving discrete regulatory modules that may function (independently and cooperatively) in a context-dependent manner, [RefSeq, PubMed]; This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity on mycophenolic acid, coumarins, and quinolines. [provided by RefSeq, Jul 2008]., [RefSeq]; UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:12181437, PubMed:18004212, PubMed:18052087, PubMed:18674515, PubMed:18719240, PubMed:19545173, PubMed:23288867, PubMed:26220143, PubMed:15231852, PubMed:21422672). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:12181437, PubMed:18004212). Catalyzes the glucuronidation of endogenous estrogen hormones such as estradiol, estrone and estriol (PubMed:18719240, PubMed:23288867, PubMed:26220143). Involved in the glucuronidation of arachidonic acid (AA) and AA-derived eicosanoids including 15-HETE and PGB1 (PubMed:15231852). Involved in the glucuronidation of the phytochemical ferulic acid at the phenolic or the carboxylic acid group (PubMed:21422672). Also catalyzes the glucuronidation of the isoflavones genistein, daidzein, glycitein, formononetin, biochanin A and prunetin, which are phytoestrogens with anticancer and cardiovascular properties (PubMed:18052087, PubMed:19545173). Involved in the glucuronidation of the AGTR1 angiotensin receptor antagonist losartan, caderastan and zolarsatan, drugs which can inhibit the effect of angiotensin II (PubMed:18674515)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; UGT1A10 exhibited somewhat higher BPA glucuronidation activity than UGT1A9, but it was lower than UGT2A1 and UGT2B15. 4., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 792, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O00474;Q6NT91;Q7Z6H8", "ec_number_list": "2.4.1.17;2.4.1.170", "go_molecular_function": "GO:0008194 UDP-glycosyltransferase activity;GO:0004857 enzyme inhibitor activity;GO:0019899 enzyme binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0008210 estrogen metabolic process;GO:0045922 negative regulation of fatty acid metabolic process;GO:0001889 liver development;GO:0006805 xenobiotic metabolic process;GO:0016125 sterol metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9HAW8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRR2-1", "uniprot_id": "TRYG1_HUMAN", "mass": 33817.0, "length": 321, "protein_name": "Tryptase gamma", "gene_name": "TPSG1", "organism": "Human", "refseq_name": "tryptase gamma preproprotein", "refseq_ac": "NP_036599", "gene_names_uniprotkb": "TPSG1; PRSS31; TMT", "gene_names_refseq": "PRSS31; TMT; TPSG1; trpA", "protein_names_uniprotkb": "Tryptase gamma; 3.4.21.-; Serine protease 31; Transmembrane tryptase", "protein_names_refseq": "serine protease 31; transmembrane tryptase; tryptase gamma II; tryptase gamma I; tryptase gamma preproprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:25823)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10521469;10843716;11237011;12194977;20126998;28855257;37217939", "class_list": "", "function": "TMT is an exocytosed MC neutral protease that induces AHR in lungs primarily by activating an IL-13/IL-4Ralpha/STAT6-dependent pathway., [RefSeq, PubMed]; Tryptase promotes breast cancer migration and invasion., [RefSeq, PubMed]; Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. There is uncertainty regarding the number of genes in this cluster. Currently four functional genes - alpha I, beta I, beta II and gamma I - have been identified. And beta I has an allelic variant named alpha II, beta II has an allelic variant beta III, also gamma I has an allelic variant gamma II. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha-tryptases predominant. This gene differs from other members of the tryptase gene family in that it has C-terminal hydrophobic domain, which may serve as a membrane anchor. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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": 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": "Q96RZ8;Q9C015;Q9NRQ8;Q9UBB2", "ec_number_list": "", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005576 extracellular region", "go_biological_process": "GO:0006508 proteolysis;GO:0031638 zymogen activation", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9NRR2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IWA0-1", "uniprot_id": "WDR75_HUMAN", "mass": 94499.0, "length": 830, "protein_name": "WD repeat-containing protein 75", "gene_name": "WDR75", "organism": "Human", "refseq_name": "WD repeat-containing protein 75 isoform 2", "refseq_ac": "NP_001290025", "gene_names_uniprotkb": "WDR75; UTP17", "gene_names_refseq": "NET16; UTP17; WDR75", "protein_names_uniprotkb": "WD repeat-containing protein 75; U3 small nucleolar RNA-associated protein 17 homolog", "protein_names_refseq": "U3 small nucleolar RNA-associated protein 17 homolog; UTP17, small subunit (SSU) processome component, homolog; WD repeat-containing protein 75 isoform 2; WD repeat-containing protein 75", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); autism spectrum disorder (Disease Ontology:DOID:0060041); subcortical band heterotopia (Disease Ontology:DOID:0111169)", "pathway": " (hsa:84128); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 157, "publication_id_list": "10606270;11081632;11237011;11922599;11935223;11978965;12068309;12150911;12417735;12429849;15199136;16037817;16043514;16381836;16565220;16738141;16782898;17081983;17189298;17353269;17412707;17636026;17699751;18065403;18438418;18452278;18669648;18691976;19033376;19106111;19332556;19413330;19415658;19463982;19564402;19608861;19651622;19664995;19801658;20038530;20047967;20056613;20068231;20166139;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21406692;22072790;22190735;22195017;22916032;23186163;23391857;23439679;23481700;23482395;2388630;24086612;24366607;24424021;24550520;24714562;24715725;25218447;25411247;25418920;25525153;25576301;25653167;25802875;25851604;25892735;25969445;26085946;26154972;26196125;26237581;26375851;26728094;26811146;26992070;27084949;27846572;27920218;28063628;28218747;28228285;28446606;28514659;28649982;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30379171;30410026;30429286;30484775;30833945;31092671;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34516797;34611297;34725712;34932366;35051231;35251023;35318648;35580925;36010968;36241641;36284347;36581221;9211966;9482744;9512526", "class_list": "", "function": "RNA-interference screen for p53 regulators unveils a role of WDR75 in ribosome biogenesis., [RefSeq, PubMed]; Ribosome biogenesis factor. 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. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I., [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": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "Q96J10;Q9H8U8;Q9H9U5;Q9H9V8;Q9UIX2", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0032040 small-subunit processome", "go_biological_process": "GO:2000234 positive regulation of rRNA processing;GO:0006351 DNA-templated transcription;GO:0045943 positive regulation of transcription by RNA polymerase I;GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 16.1, "record_id": "Q8IWA0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96FK6-1", "uniprot_id": "WDR89_HUMAN", "mass": 43215.0, "length": 387, "protein_name": "WD repeat-containing protein 89", "gene_name": "WDR89", "organism": "Human", "refseq_name": "WD repeat-containing protein 89", "refseq_ac": "NP_001008726", "gene_names_uniprotkb": "WDR89; C14orf150; MSTP050", "gene_names_refseq": "C14orf150; MSTP050; WDR89", "protein_names_uniprotkb": "WD repeat-containing protein 89", "protein_names_refseq": "WD repeat-containing protein 89", "tax_id": 9606, "disease": "", "pathway": " (hsa:112840)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;18452278;20068230;23481700;25576301;26992070;27600516;28228285;28649982;28832583;28834231;28904123;29242379;30315122;30429286;30833945;31530632;31844290;31848261;32357974;33592498;33968037;34171305;34932366;35051231;40914422", "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": 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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q96FK6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00755-1", "uniprot_id": "WNT7A_HUMAN", "mass": 39005.0, "length": 349, "protein_name": "Protein Wnt-7a", "gene_name": "WNT7A", "organism": "Human", "refseq_name": "protein Wnt-7a precursor", "refseq_ac": "NP_004616", "gene_names_uniprotkb": "WNT7A", "gene_names_refseq": "SANTOS; WNT7A; Wnt-7a", "protein_names_uniprotkb": "Protein Wnt-7a", "protein_names_refseq": "protein Wnt-7a precursor; protein Wnt-7a; proto-oncogene Wnt7a protein; wingless-type MMTV integration site family, member 7A", "tax_id": 9606, "disease": "Fuhrmann syndrome (Disease Ontology:DOID:0090067); Schinzel type phocomelia (Disease Ontology:DOID:0112181); leiomyoma (Disease Ontology:DOID:127); Santos syndrome (MONDO:MONDO:0013077)", "pathway": " (hsa:7476); (R-HSA-3238698); (R-HSA-373080)", "pathway_count": 3, "publication_count": 87, "publication_id_list": "10097073;10694878;11031247;11231171;11297558;11433298;12098667;12559132;12717451;15498814;16364628;16602827;16645052;16678095;16678096;16826533;17108000;17117926;17141155;17397399;17431918;18160347;18160348;18193032;18193037;18430724;18801728;19442504;19566487;19619488;19837038;20477987;20533886;20826466;20949531;20966082;21271649;21554866;21725318;21725319;21768372;21886182;22027831;22041890;22046319;22094269;22094272;22108505;22653731;22784633;22888000;22952392;22983114;23148298;23260141;25731175;26908622;27638328;28855715;29557506;30026314;31844290;34739062;36010968;3616618;37541622;37694534;37852257;38246919;6950381;7797535;8082781;8167409;8168088;8198617;8262072;8386612;8397094;8557170;8612563;8732687;8770894;8893824;8906787;8985181;9064337;9161407", "class_list": "", "function": "Association of Clinicopathologic and Molecular Tumor Features With Recurrence in Resected Early-Stage Epidermal Growth Factor Receptor-Positive Non-Small Cell Lung Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Down-regulated Wnt7a and GPR124 in early-onset preeclampsia placentas reduce invasion and migration of trophoblast cells. Publication Status: Online-Only, [RefSeq, PubMed]; Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays an important role in embryonic development, including dorsal versus ventral patterning during limb development, skeleton development and urogenital tract development (PubMed:16826533). Required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation (PubMed:30026314). Required for normal, sexually dimorphic development of the Mullerian ducts, and for normal fertility in both sexes (By similarity). Required for normal neural stem cell proliferation in the hippocampus dentate gyrus (By similarity). Required for normal progress through the cell cycle in neural progenitor cells, for self-renewal of neural stem cells, and for normal neuronal differentiation and maturation (By similarity). Promotes formation of synapses via its interaction with FZD5 (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Molecular basis of Wnt biogenesis, secretion, and Wnt7-specific signaling., [RefSeq, PubMed]; Role of Stromal Fibroblast-Induced WNT7A Associated with Cancer Cell Migration Through the AKT/CLDN1 Signaling Axis in Oral Squamous Cell Carcinoma., [RefSeq, PubMed]; This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is involved in the development of the anterior-posterior axis in the female reproductive tract, and also plays a critical role in uterine smooth muscle pattering and maintenance of adult uterine function. Mutations in this gene are associated with Fuhrmann and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes. [provided by RefSeq, Jul 2008]., [RefSeq]; WNT7A promotes tumorigenesis of head and neck squamous cell carcinoma via activating FZD7/JAK1/STAT3 signaling. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q96H90;Q9Y560", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005109 frizzled binding;GO:0005125 cytokine activity;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005796 Golgi lumen", "go_biological_process": "GO:0000578 embryonic axis specification;GO:0099054 presynapse assembly;GO:1905386 positive regulation of protein localization to presynapse;GO:1904861 excitatory synapse assembly;GO:0007409 axonogenesis", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "O00755-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14904-1", "uniprot_id": "WNT9A_HUMAN", "mass": 40320.0, "length": 365, "protein_name": "Protein Wnt-9a", "gene_name": "WNT9A", "organism": "Human", "refseq_name": "protein Wnt-9a precursor", "refseq_ac": "NP_003386", "gene_names_uniprotkb": "WNT9A; WNT14", "gene_names_refseq": "WNT14; WNT9A", "protein_names_uniprotkb": "Protein Wnt-9a; Protein Wnt-14", "protein_names_refseq": "protein Wnt-9a precursor; protein Wnt-9a; wingless-type MMTV integration site family, member 14; wingless-type MMTV integration site family, member 9A", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); cholangiocarcinoma (Disease Ontology:DOID:4947)", "pathway": " (hsa:7483); (R-HSA-201681); (R-HSA-3238698); (R-HSA-373080); (R-HSA-3772470)", "pathway_count": 5, "publication_count": 144, "publication_id_list": "10.1101/2023.09.13.557529;10097073;10198061;10201374;10347172;10694878;11029007;11031247;11137016;11231171;11297558;11357136;11414706;11433298;11433302;11448771;11493532;11742004;11836627;12050670;12098667;12167704;12205098;12223464;12527209;12559132;12717451;12775774;12897152;14636582;14981260;15084453;15208637;15256437;15454084;15459103;15498814;15778503;15908424;16116452;16172602;16280981;16364628;16427602;16554443;16602827;16645052;16678095;16678096;16723543;16971168;17108000;17117926;17141155;17143291;17234765;17397399;17462603;18077588;18160347;18160348;18193032;18193037;18322270;18423204;18430724;18502762;18606139;18801728;19000841;19174556;19208630;19307728;19442504;19566487;19619488;19755491;19837038;20004982;20053636;20093360;20477987;20533886;20826466;20966082;21383061;21554866;21725318;21725319;21743455;21768372;21875946;21886182;21944579;21984209;22000855;22000856;22014570;22027831;22041890;22046319;22094269;22094272;22108505;22411803;22653731;22773843;22784633;22888000;22951645;22952392;22983114;22986341;23148298;23256519;23260141;23791946;29393594;30429286;32938616;33055079;33990546;3616618;37094100;38287451;6950381;7797535;8082781;8167409;8198617;8262072;8386612;8397094;8557170;8612563;8732687;8770894;8906787;8985181;9064337;9135132;9391096;9441749;9501980", "class_list": "", "function": "Found clustered with WNT3A on 1q42. ., [RefSeq, PubMed]; Genetic polymorphism of WNT9A is functionally associated with thumb osteoarthritis in the Chinese population. Publication Status: Online-Only, [RefSeq, PubMed]; Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene., [RefSeq, PubMed]; Ligand for members of the frizzled family of seven transmembrane receptors. Functions in the canonical Wnt/beta-catenin signaling pathway. Required for normal timing of IHH expression during embryonic bone development, normal chondrocyte maturation and for normal bone mineralization during embryonic bone development. Plays a redundant role in maintaining joint integrity., [UniProtKB, UniProtKB, UniProtKB]; Loss of the WNT9a ligand aggravates the rheumatoid arthritis-like symptoms in hTNF transgenic mice. Publication Status: Online-Only, [RefSeq, PubMed]; The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is expressed in gastric cancer cell lines. The protein encoded by this gene shows 75% amino acid identity to chicken Wnt14, which has been shown to play a central role in initiating synovial joint formation in the chick limb. This gene is clustered with another family member, WNT3A, in the chromosome 1q42 region. [provided by RefSeq, Jul 2008]., [RefSeq]; WNT9A Affects Late-Onset Acute Respiratory Distress Syndrome and 28-Day Survival: Evidence from a Three-Step Multiomics 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": 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": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NLW2;Q2M2J3;Q5VWU0;Q96S50", "ec_number_list": "", "go_molecular_function": "GO:0005109 frizzled binding;GO:0005125 cytokine activity;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0071300 cellular response to retinoic acid;GO:0030182 neuron differentiation;GO:0060070 canonical Wnt signaling pathway;GO:0032331 negative regulation of chondrocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "O14904-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51811-1", "uniprot_id": "XK_HUMAN", "mass": 50902.0, "length": 444, "protein_name": "Endoplasmic reticulum membrane adapter protein XK", "gene_name": "XK", "organism": "Human", "refseq_name": "endoplasmic reticulum membrane adapter protein XK", "refseq_ac": "NP_066569", "gene_names_uniprotkb": "XK; XKR1; XRG1", "gene_names_refseq": "KX; NAC; NA; X1k; XKR1; XK", "protein_names_uniprotkb": "Endoplasmic reticulum membrane adapter protein XK; Kell complex 37 kDa component; Kx antigen; Membrane transport protein XK; XK-related protein 1", "protein_names_refseq": "Kell blood group precursor (McLeod phenotype); Kx antigen; Kx blood group antigen; XK, Kell blood group complex subunit (McLeod syndrome); XK-related protein 1; endoplasmic reticulum membrane adapter protein XK; kell complex 37 kDa component; membrane transport protein XK", "tax_id": 9606, "disease": "McLeod syndrome (Disease Ontology:DOID:0112107); hematopoietic system disease (Disease Ontology:DOID:74)", "pathway": " (hsa:7504); (R-HSA-375276)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11322507;11385580;11457843;11562423;11683476;11761473;11773063;11961232;12427552;12540846;12719537;1280419;12823753;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;1655761;17081983;1710450;1710578;1719979;1722333;18127230;1847994;23446738;23690594;24906252;2649896;27496565;28228285;29393594;29632046;31086825;3202875;32387766;32845802;3366244;3525564;3856870;39324427;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7737196;7797512;7905839;8004674;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea-Acanthocytosis., [RefSeq, PubMed]; Recruits the lipid transfer protein VPS13A from lipid droplets to the endoplasmic reticulum (ER) membrane., [UniProtKB, PubMed]; This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q4TTN6;Q8IUK6;Q9UC77", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006865 amino acid transport", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "P51811-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2NL98-1", "uniprot_id": "VMAC_HUMAN", "mass": 18348.0, "length": 169, "protein_name": "Vimentin-type intermediate filament-associated coiled-coil protein", "gene_name": "VMAC", "organism": "Human", "refseq_name": "vimentin-type intermediate filament-associated coiled-coil protein", "refseq_ac": "NP_001017921", "gene_names_uniprotkb": "VMAC", "gene_names_refseq": "VMAC", "protein_names_uniprotkb": "Vimentin-type intermediate filament-associated coiled-coil protein", "protein_names_refseq": "vimentin-type IF-associated coiled-coil protein; vimentin-type intermediate filament-associated coiled-coil protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:400673)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "23481700;29557506;31092671;31154438;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": "B3KW55", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0045098 type III intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q2NL98-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5GH72-1", "uniprot_id": "XKR7_HUMAN", "mass": 63826.0, "length": 579, "protein_name": "XK-related protein 7", "gene_name": "XKR7", "organism": "Human", "refseq_name": "XK-related protein 7", "refseq_ac": "NP_001011718", "gene_names_uniprotkb": "XKR7; C20orf159; XRG7", "gene_names_refseq": "C20orf159; XKR7; dJ310O13.4", "protein_names_uniprotkb": "XK-related protein 7", "protein_names_refseq": "X Kell blood group precursor-related family, member 7; X-linked Kx blood group related 7; XK, Kell blood group complex subunit-related family, member 7; XK-related protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:343702)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "18452278;25892735;31844290;32387766;32488085;35051231", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "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": "Q9NUG5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0043652 engulfment of apoptotic cell;GO:0070782 phosphatidylserine exposure on apoptotic cell surface;GO:1902742 apoptotic process involved in development", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q5GH72-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5GH76-1", "uniprot_id": "XKR4_HUMAN", "mass": 71501.0, "length": 650, "protein_name": "XK-related protein 4", "gene_name": "XKR4", "organism": "Human", "refseq_name": "XK-related protein 4", "refseq_ac": "NP_443130", "gene_names_uniprotkb": "XKR4; KIAA1889; XRG4", "gene_names_refseq": "XKR4; XRG4; hXKR4", "protein_names_uniprotkb": "XK-related protein 4; hXKR4", "protein_names_refseq": "X Kell blood group precursor-related family, member 4; X-linked Kx blood group related 4; XK, Kell blood group complex subunit-related family, member 4; XK-related protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:114786)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "17322306;18521090;19573479;20607790;24852370;25231987;31937595;33725486;34087483;35051231;35494241;37696806;40781244", "class_list": "", "function": "Caspase cleavage releases a nuclear protein fragment that stimulates phospholipid scrambling at the plasma membrane., [RefSeq, PubMed]; Clinical trial of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Findings suggest that the SNPs in XKR4 and near FOXE1 are involved in the regulation of TSH levels., [RefSeq, PubMed]; Genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Phospholipid scramblase that promotes phosphatidylserine exposure on apoptotic cell surface (PubMed:25231987, PubMed:33725486, PubMed:37696806). Phosphatidylserine is a specific marker only present at the surface of apoptotic cells and acts as a specific signal for engulfment (PubMed:25231987, PubMed:37696806)., [UniProtKB, PubMed, PubMed, PubMed]; Two SNPs located in genes coding for as yet uncharacterized proteins expressed in the cerebellum, XKR4 in 8q12.1, and FAM190A in 4q22.1 suggest association with association with attention deficit hyperactivity disorder. [XkR4], [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": 4, "reported_glycation": 0, "reported_snv": 29, "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": "Q96PZ8", "ec_number_list": "3.1.-.-;1.6.5.5", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0043652 engulfment of apoptotic cell;GO:0070782 phosphatidylserine exposure on apoptotic cell surface;GO:1902742 apoptotic process involved in development", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q5GH76-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5GH77-1", "uniprot_id": "XKR3_HUMAN", "mass": 53448.0, "length": 459, "protein_name": "XK-related protein 3", "gene_name": "XKR3", "organism": "Human", "refseq_name": "XK-related protein 3", "refseq_ac": "NP_001305180", "gene_names_uniprotkb": "XKR3; XRG3", "gene_names_refseq": "XKR3; XRG3; XTES", "protein_names_uniprotkb": "XK-related protein 3; X Kell blood group-related 3; XTES", "protein_names_refseq": "X Kell blood group precursor-related family, member 3; X-linked Kx blood group related 3; XK, Kell blood group complex subunit-related family, member 3; XK-related protein 3; expressed in testis; x Kell blood group-related 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:150165)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "16431037;20560530;24715725;28832583;32983136;35051231", "class_list": "", "function": "Observational study of genetic testing. (HuGE Navigator), [RefSeq, PubMed]; XKRX (MIM 300684) and XKR3 are homologs of the Kell blood group precursor XK (MIM 314850), which is a putative membrane transporter and a component of the XK/Kell complex of the Kell blood group system (Calenda et al., 2006 [PubMed 16431037]).[supplied by OMIM, Mar 2008]., [RefSeq]; XPLAC is expressed mostly in placenta and adrenal gland while XTES is exclusively expressed in primate testis, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B2RPN1;Q52PG8;Q8N7E1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q5GH77-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T750-1", "uniprot_id": "KPLCE_HUMAN", "mass": 26238.0, "length": 250, "protein_name": "Protein KPLCE", "gene_name": "KPLCE", "organism": "Human", "refseq_name": "protein KPLCE", "refseq_ac": "NP_001019850", "gene_names_uniprotkb": "KPLCE; C1orf68; LEP7; XP32", "gene_names_refseq": "C1orf68; KPLCE; LEP7; XP32", "protein_names_uniprotkb": "Protein KPLCE; KPRP N-terminal and LCE C-terminal-like protein; Skin-specific protein 32", "protein_names_refseq": "protein KPLCE; skin-specific protein (xp32); skin-specific protein 32", "tax_id": 9606, "disease": "", "pathway": " (hsa:100129271)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "20200978;25197941;25411189;26374642;30397120;31154438;34019948;38665916;9344646", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SNPs in C1orf68 are associated with increased risk of candidemia. 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": "O14634", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0008544 epidermis development", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q5T750-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6P2C0-1", "uniprot_id": "WDR93_HUMAN", "mass": 77378.0, "length": 686, "protein_name": "WD repeat-containing protein 93", "gene_name": "WDR93", "organism": "Human", "refseq_name": "WD repeat-containing protein 93 isoform 2", "refseq_ac": "NP_001271324", "gene_names_uniprotkb": "WDR93", "gene_names_refseq": "C1d-87; CFAP297; FAP297; WDR93", "protein_names_uniprotkb": "WD repeat-containing protein 93", "protein_names_refseq": "WD repeat-containing protein 93 isoform 2; WD repeat-containing protein 93", "tax_id": 9606, "disease": "", "pathway": " (hsa:56964)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "28904123;29557506;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": 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": "Q8N7Y8;Q9NP89", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0022900 electron transport chain", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q6P2C0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZQQ6-1", "uniprot_id": "WDR87_HUMAN", "mass": 333215.0, "length": 2873, "protein_name": "WD repeat-containing protein 87", "gene_name": "WDR87", "organism": "Human", "refseq_name": "WD repeat-containing protein 87 isoform 2", "refseq_ac": "NP_114157", "gene_names_uniprotkb": "WDR87", "gene_names_refseq": "NYD-SP11; WDR87", "protein_names_uniprotkb": "WD repeat-containing protein 87; Testis development protein NYD-SP11", "protein_names_refseq": "WD repeat-containing protein 87 isoform 2; WD repeat-containing protein 87; testis development protein NYD-SP11", "tax_id": 9606, "disease": "", "pathway": " (hsa:83889)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;23481700;26758079;28228285;28411811;30192525;30379171;30833945;36571501", "class_list": "", "function": "WDR87 interacts with CFAP47 protein in the middle piece of spermatozoa flagella to participate in sperm tail assembly., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 51, "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": "E7ESW6;Q9BWV9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6ZQQ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q76NI1-1", "uniprot_id": "KNDC1_HUMAN", "mass": 191397.0, "length": 1749, "protein_name": "Kinase non-catalytic C-lobe domain-containing protein 1", "gene_name": "KNDC1", "organism": "Human", "refseq_name": "kinase non-catalytic C-lobe domain-containing protein 1 isoform 1", "refseq_ac": "NP_689856", "gene_names_uniprotkb": "KNDC1; C10orf23; KIAA1768; RASGEF2; VKIND; hucep-9", "gene_names_refseq": "C10orf23; KNDC1; RASGEF2; Very-KIND; bB439H18.3; v-KIND", "protein_names_uniprotkb": "Kinase non-catalytic C-lobe domain-containing protein 1; Cerebral protein 9; KIND domain-containing protein 1; Protein very KIND; Ras-GEF domain-containing family member 2; v-KIND", "protein_names_refseq": "KIND domain-containing protein 1; RasGEF domain family, member 2; cerebral protein 9; kinase non-catalytic C-lobe domain (KIND) containing 1; kinase non-catalytic C-lobe domain-containing protein 1 isoform 1; kinase non-catalytic C-lobe domain-containing protein 1; protein very KIND; ras-GEF domain-containing family member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:85442)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;18452278;24788352;27862975;28832583;29242379;29568929;30620550;31154438;31530632;32488085;32938616;34087483;35051231;38253038;41350704", "class_list": "", "function": "KNDC1 knockdown promoted HUVEC proliferation via the extracellular signal-regulated kinase signaling pathway and delayed HUVEC senescence by inhibiting the p53-p21-p16 transduction cascade., [RefSeq, PubMed]; RAS-Guanine nucleotide exchange factor (GEF) that controls the negative regulation of neuronal dendrite growth by mediating a signaling pathway linking RAS and MAP2 (By similarity). May be involved in cellular senescence (PubMed:24788352)., [UniProtKB, UniProtKB, PubMed]; The protein encoded by this gene is a Ras guanine nucleotide exchange factor that appears to negatively regulate dendritic growth in the brain. Knockdown of this gene in senescent umbilical vein endothelial cells partially reversed the senescence, showing that this gene could potentially be targeted by anti-aging therapies. [provided by RefSeq, Dec 2016]., [RefSeq]; The results demonstrated that KNDC1 overexpression possibly inhibited HUVEC activity and function and promoted HUVEC senescence. Mechanistic studies demonstrated that KNDC1 triggered a p53ROS positive feedback loop, which serves a crucial role in regulating senescence., [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 62, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B0QZC5;Q5T233;Q6ZNH8;Q8TEE5;Q96LV7;Q9C095", "ec_number_list": "", "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0030425 dendrite;GO:0043025 neuronal cell body;GO:0043204 perikaryon;GO:0032045 guanyl-nucleotide exchange factor complex", "go_biological_process": "GO:0048814 regulation of dendrite morphogenesis;GO:0007264 small GTPase-mediated signal transduction;GO:0050773 regulation of dendrite development;GO:0021707 cerebellar granule cell differentiation", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q76NI1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z5L0-1", "uniprot_id": "VMO1_HUMAN", "mass": 21534.0, "length": 202, "protein_name": "Vitelline membrane outer layer protein 1 homolog", "gene_name": "VMO1", "organism": "Human", "refseq_name": "vitelline membrane outer layer protein 1 homolog isoform 2 precursor", "refseq_ac": "NP_001138411", "gene_names_uniprotkb": "VMO1; PRO21055", "gene_names_refseq": "ERGA6350; PRO21055; VMO1", "protein_names_uniprotkb": "Vitelline membrane outer layer protein 1 homolog", "protein_names_refseq": "vitelline membrane outer layer protein 1 homolog isoform 2 precursor; vitelline membrane outer layer protein 1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:284013)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "12975309;15340161;30429286;35580925;36680395;39053673", "class_list": "", "function": "Methylation and transcriptome analyses construct a prognostic model and reveal the suppressor role of VMO1 in lung adenocarcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 1, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 1, "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": "C9JQ15;E9PAU9;E9PGP4;Q3SXP1;Q8IUY1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q7Z5L0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86TI4-3", "uniprot_id": "WDR86_HUMAN", "mass": 40731.0, "length": 376, "protein_name": "WD repeat-containing protein 86", "gene_name": "WDR86", "organism": "Human", "refseq_name": "WD repeat-containing protein 86 isoform 1", "refseq_ac": "NP_001271189", "gene_names_uniprotkb": "WDR86", "gene_names_refseq": "WDR86", "protein_names_uniprotkb": "WD repeat-containing protein 86", "protein_names_refseq": "WD repeat-containing protein 86 isoform 1; WD repeat-containing protein 86", "tax_id": 9606, "disease": "", "pathway": " (hsa:349136)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "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": 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": "B4DJF1;C9JAJ5;C9JXE3;Q3KNT1;Q6ZUS8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q86TI4-3", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H7M9-1", "uniprot_id": "VISTA_HUMAN", "mass": 33908.0, "length": 311, "protein_name": "V-type immunoglobulin domain-containing suppressor of T-cell activation", "gene_name": "VSIR", "organism": "Human", "refseq_name": "V-type immunoglobulin domain-containing suppressor of T-cell activation precursor", "refseq_ac": "NP_071436", "gene_names_uniprotkb": "VSIR; C10orf54; PP2135; PRO1412; SISP1; VISTA", "gene_names_refseq": "B7-H5; B7H5; C10orf54; DD1alpha; Dies1; GI24; PD-1H; PP2135; SISP1; VISTA; VSIR", "protein_names_uniprotkb": "V-type immunoglobulin domain-containing suppressor of T-cell activation; Platelet receptor Gi24; Sisp-1; Stress-induced secreted protein-1; V-set domain-containing immunoregulatory receptor; V-set immunoregulatory receptor", "protein_names_refseq": "Death Domain1alpha; PDCD1 homolog; V-domain Ig suppressor of T cell activation; V-set domain-containing immunoregulatory receptor; V-type immunoglobulin domain-containing suppressor of T-cell activation precursor; V-type immunoglobulin domain-containing suppressor of T-cell activation; platelet receptor GI24; sisp-1; stress-induced secreted protein-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:64115)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "10.1101/2023.09.13.557529;12975309;15340161;15498874;18669648;19367720;19690332;20058876;20068231;20666777;23090970;23186163;24190977;24275569;24691993;28467828;29351928;29557506;31217245;31611695;32157095;32350084;32938616;33043033;35051231;35154160;35251023;36241641;37074911;38175754;38357542;38758807;38848896;38850312", "class_list": "", "function": "Aberrant expression of B7-H4 and B7-H5 contributes to the development of cutaneous squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Expression and Prognostic Significance of LAG-3, TIGIT, VISTA, and IDO1 in Endometrial Serous Carcinoma., [RefSeq, PubMed]; Immunoregulatory receptor which inhibits the T-cell response (PubMed:24691993). May promote differentiation of embryonic stem cells, by inhibiting BMP4 signaling (By similarity). May stimulate MMP14-mediated MMP2 activation (PubMed:20666777)., [UniProtKB, PubMed, UniProtKB, PubMed]; LRIG1 engages ligand VISTA and impairs tumor-specific CD8[+] T cell responses., [RefSeq, PubMed]; 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]; VISTA promotes the metabolism and differentiation of myeloid-derived suppressor cells by STAT3 and polyamine-dependent 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": 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 15, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A1L0X9;A4ZYV1;A8MVH5;Q6UXF3;Q8WUG3;Q8WYZ8", "ec_number_list": "", "go_molecular_function": "GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0061133 endopeptidase activator activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0032693 negative regulation of interleukin-10 production;GO:0032700 negative regulation of interleukin-17 production;GO:0010628 positive regulation of gene expression;GO:0030335 positive regulation of cell migration;GO:0032689 negative regulation of type II interferon production", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9H7M9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HBG4-1", "uniprot_id": "VPP4_HUMAN", "mass": 96386.0, "length": 840, "protein_name": "V-type proton ATPase 116 kDa subunit a 4", "gene_name": "ATP6V0A4", "organism": "Human", "refseq_name": "V-type proton ATPase 116 kDa subunit a 4", "refseq_ac": "NP_065683", "gene_names_uniprotkb": "ATP6V0A4; ATP6N1B; ATP6N2", "gene_names_refseq": "A4; ATP6N1B; ATP6N2; ATP6V0A4; DRTA3; RDRTA2; RTA1C; RTADR; STV1; VPH1; VPP2", "protein_names_uniprotkb": "V-type proton ATPase 116 kDa subunit a 4; V-ATPase 116 kDa isoform a 4; Vacuolar proton translocating ATPase 116 kDa subunit a isoform 4; Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform", "protein_names_refseq": "ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B; ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 2 (38kD); ATPase, H+ transporting, lysosomal V0 subunit a4; H(+)-transporting two-sector ATPase, noncatalytic accessory protein 1B; V-ATPase 116 kDa isoform a 4; V-ATPase 116 kDa; V-ATPase subunit a4; V-type proton ATPase 116 kDa subunit a 4; V-type proton ATPase 116 kDa subunit a; vacuolar proton pump 116 kDa accessory subunit; vacuolar proton pump, subunit 2", "tax_id": 9606, "disease": "autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss (Disease Ontology:DOID:0061166); autosomal recessive osteopetrosis 1 (Disease Ontology:DOID:0110942); renal tubular acidosis (Disease Ontology:DOID:14219); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:50617); (R-HSA-1222556); (R-HSA-77387); (R-HSA-917977); (R-HSA-983712)", "pathway_count": 5, "publication_count": 74, "publication_id_list": "10029572;10409623;10802645;10973252;11237011;11237855;11779865;11800564;11970843;12414817;12531241;16227996;16271887;16564538;16574064;16609065;16793765;17051221;17662945;17729390;18406720;18669648;18794901;19089323;19321446;20068231;20134026;21124855;22087256;23481700;24715725;25645385;26205815;26375851;27127844;27600516;28218747;28228285;2825632;2848506;28514659;28832583;29242379;29508533;29557506;29596046;29786170;2986535;30256676;30315122;30337524;3061785;30779550;32157095;32488085;33298915;33717175;33912179;33968037;34157794;34171305;35580925;37938771;6141558;6309857;7929063;7980580;8300632;8537108;8682206;8995282;9465039;9609117;9793760", "class_list": "", "function": "A novel heterozygous intronic mutation (c.639 + 1G>A) in the ATP6V0A4 gene was identified along with a heterozygous nonsense variant (c.580C>T, p.Arg194*)., [RefSeq, PubMed]; Essential component of the vacuolar proton pump (V-ATPase), a multimeric enzyme that catalyzes the translocation of protons across the membranes. Required for assembly and activity of the V-ATPase., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay., [RefSeq, PubMed]; Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Involved in normal vectorial acid transport into the urine by the kidney (PubMed:10973252, PubMed:12414817)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "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": "A4D1R4;A8KA80;Q32M47", "ec_number_list": "", "go_molecular_function": "GO:0051117 ATPase binding;GO:0046961 proton-transporting ATPase activity, rotational mechanism", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0045177 apical part of cell;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007605 sensory perception of sound;GO:0001503 ossification;GO:0006885 regulation of pH;GO:0097254 renal tubular secretion;GO:0097401 synaptic vesicle lumen acidification", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9HBG4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NZR4-1", "uniprot_id": "VSX1_HUMAN", "mass": 38431.0, "length": 365, "protein_name": "Visual system homeobox 1", "gene_name": "VSX1", "organism": "Human", "refseq_name": "visual system homeobox 1 isoform c", "refseq_ac": "NP_001243200", "gene_names_uniprotkb": "VSX1; RINX", "gene_names_refseq": "CAASDS; KTCN1; KTCN; PPCD1; PPCD; PPD; RINX; VSX1", "protein_names_uniprotkb": "Visual system homeobox 1; Homeodomain protein RINX; Retinal inner nuclear layer homeobox protein; Transcription factor VSX1", "protein_names_refseq": "homeodomain protein RINX; retinal inner nuclear layer homeobox protein; transcription factor VSX1; visual system homeobox 1 homolog, CHX10-like; visual system homeobox 1 isoform c", "tax_id": 9606, "disease": "posterior polymorphous corneal dystrophy 1 (Disease Ontology:DOID:0110855); keratoconus (Disease Ontology:DOID:10126); corneal dystrophy (Disease Ontology:DOID:2566); craniofacial anomalies and anterior segment dysgenesis syndrome (MONDO:MONDO:0013618)", "pathway": " (hsa:30813)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10673340;10903837;11978762;15051220;15623752;15647262;18216574;18253095;19763142;19956409;21976959;29393594;30379171;30574758;35051231;36463181;37322657", "class_list": "", "function": "Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster (PubMed:10903837). May regulate the activity of the LCR and the cone opsin genes at earlier stages of development (PubMed:10903837). Dispensable in early retinal development (By similarity)., [UniProtKB, PubMed, UniProtKB]; CHX10 and VSX1 may control retinal bipolar cell specification or differentiation by repressing genes required for the development of other cell types, [RefSeq, PubMed]; High VSX1 expression promotes the aggressiveness of clear cell renal cell carcinoma by transcriptionally regulating FKBP10. Publication Status: Online-Only, [RefSeq, PubMed]; Mutational analysis of the VSX1 gene in a series of Italian patients revealed one novel mutation and confirmed an important role played by this gene in a significant proportion of patients affected by keratoconus GeneRIF: Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; Mutations in VSX1 homeobox gene results in impaired DNA binding and is associated with posterior polymorphous dystrophy and keratoconus, [RefSeq, PubMed]; The association between VSX1 exon3 gene variants and keratoconus in Malaysian patients., [RefSeq, PubMed]; The new mutation in the VSX1 (RINX) gene described in this report results in abnormal craniofacial features, absence of the roof of the sella turcica, and anomalous development of the corneal endothelium., [RefSeq, PubMed]; The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; VSX1 is involved in keratoconus and other corneal pathologies, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B9EGJ4;D1MF28;Q0GM60;Q0GM61;Q0GM62;Q0GM63;Q0GM64;Q0GM65;Q5TF40;Q5TF41;Q9HCU3;Q9NU27", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000976 transcription cis-regulatory region binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0007601 visual perception;GO:0048666 neuron development", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9NZR4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBH6-1", "uniprot_id": "S53A1_HUMAN", "mass": 81535.0, "length": 696, "protein_name": "Solute carrier family 53 member 1", "gene_name": "XPR1", "organism": "Human", "refseq_name": "solute carrier family 53 member 1 isoform 2", "refseq_ac": "NP_001129141", "gene_names_uniprotkb": "XPR1; SLC53A1; SYG1; X3", "gene_names_refseq": "IBGC6; SLC53A1; SYG1; X3; XPR1", "protein_names_uniprotkb": "Solute carrier family 53 member 1; Phosphate exporter SLC53A1; Protein SYG1 homolog; X-receptor; Xenotropic and polytropic murine leukemia virus receptor X3; Xenotropic and polytropic retrovirus receptor 1", "protein_names_refseq": "X-receptor; phosphate exporter SLC53A1; protein SYG1 homolog; solute carrier family 53 (phosphate exporter), member 1; solute carrier family 53 member 1 isoform 2; solute carrier family 53 member 1; xenotropic and polytropic murine leukemia virus receptor X3", "tax_id": 9606, "disease": "basal ganglia calcification (Disease Ontology:DOID:0060230); basal ganglia calcification, idiopathic, 6 (MONDO:MONDO:0014628)", "pathway": " (hsa:9213)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "17081983;18212344;18578522;18669648;18767875;19413330;19415658;19651622;20068231;22645359;23186163;23791524;24366607;25576301;25892735;25938945;26992070;27080106;28228285;28467828;28514659;28904123;29242379;29314611;29437277;29557506;29769354;30315122;30429286;30484775;30573663;30833945;31020640;31043717;31154438;31530632;31844290;31848261;32157095;32350084;32357974;32387766;32938616;32983136;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34087483;34117845;34171305;34357683;34932366;35051231;35154160;35251023;35388387;35437317;35494241;35580925;36010968;36284347;39169184;39325866;39747008;39814721;9927670;9988277;9990033", "class_list": "", "function": "Clinical implication of xenotropic and polytropic retrovirus receptor 1 in papillary thyroid carcinoma., [RefSeq, PubMed]; Human XPR1 structures reveal phosphate export mechanism., [RefSeq, PubMed]; Inorganic ion transporter that mediates phosphate ion export across the plasma membrane (PubMed:23791524, PubMed:25938945, PubMed:27080106, PubMed:31043717, PubMed:39169184, PubMed:39325866, PubMed:39747008, PubMed:39814721). Plays a major role in phosphate homeostasis, preventing intracellular phosphate accumulation and possible calcium phosphate precipitation, ultimately preserving calcium signaling (PubMed:27080106). Binds inositol hexakisphosphate (Ins6P) and similar inositol polyphosphates, such as 5-diphospho-inositol pentakisphosphate (5-InsP7), which are important intracellular signaling molecules involved in regulation of phosphate flux (PubMed:27080106, PubMed:39169184, PubMed:39325866)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Phosphate dysregulation via the XPR1-KIDINS220 protein complex is a therapeutic vulnerability in ovarian cancer., [RefSeq, PubMed]; The miR-4732-5p/XPR1 axis suppresses the invasion, metastasis, and epithelial-mesenchymal transition of lung adenocarcinoma via the PI3K/Akt/GSK3beta/Snail pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a receptor for the xenotropic and polytropic classes of murine leukemia viruses. The encoded protein is involved in phosphate homeostasis by mediating phosphate export from the cell. Defects in this gene have been associated with idiopathic basal ganglia calcification-6. [provided by RefSeq, Jun 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 41, "reported_glycation": 0, "reported_snv": 13, "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": "O95719;Q7L8K9;Q8IW20;Q9NT19;Q9UFB9", "ec_number_list": "", "go_molecular_function": "GO:0001618 virus receptor activity;GO:0015562 efflux transmembrane transporter activity;GO:0005315 phosphate transmembrane transporter activity;GO:0000822 inositol hexakisphosphate binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006817 phosphate ion transport;GO:0016036 cellular response to phosphate starvation;GO:0035435 phosphate ion transmembrane transport;GO:0030643 intracellular phosphate ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9UBH6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2C2-1", "uniprot_id": "UST_HUMAN", "mass": 47673.0, "length": 406, "protein_name": "Uronyl 2-sulfotransferase", "gene_name": "UST", "organism": "Human", "refseq_name": "uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "protein_names_uniprotkb": "Uronyl 2-sulfotransferase; 2.8.2.-; CS-2OST; Chondroitin sulfate 2-O-sulfotransferase", "protein_names_refseq": "chondroitin sulfate 2-O-sulfotransferase; dermatan/chondroitin sulfate 2-sulfotransferase; uronyl 2-sulfotransferase", "tax_id": 9606, "disease": "attention deficit hyperactivity disorder (Disease Ontology:DOID:1094)", "pathway": " (hsa:10090); (R-HSA-2022870); (R-HSA-2022923)", "pathway_count": 3, "publication_count": 57, "publication_id_list": "10.1101/2023.09.13.557529;10187838;10781596;10781601;10963998;11056388;11139592;11414686;11470797;11514575;11788602;12080076;12145278;12163485;12512856;12556911;12761225;12874280;12907687;16192264;16505484;17227754;18316376;19188366;19240061;19661164;20360315;20533528;21129727;21129728;23620144;23704329;24190977;26811146;27090790;27511124;27599773;28855257;29242379;29514872;29557506;29632046;29741879;30315122;31092671;31217245;31844290;32157095;32265295;32350084;33912179;33968037;34357683;35051231;35289036;37074911;9883891", "class_list": "glycogene", "function": "2OST transfers sulfate preferentially to the GlcA residue located in a unique sequence, -GalNAc(4SO(4))-GlcA-GalNAc(6SO(4))-., [RefSeq, PubMed]; Analysis of differences and similarities various residues play in the biological roles of the HS-2OST and CS-2OST enzymes, [RefSeq, PubMed]; Clinical trial and genome-wide association 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]; Results show that overexpression of 2OST alone in the HEK293 cells did not appreciably affect heparan sulfate (HS) chain length. Also, its simultaneous overexpression with Hsepi abolished the effect of Hsepi overexpression on the HS chain lengh. Publication Status: Online-Only, [RefSeq, PubMed]; Statistical analysis showed the strongest evidence for a variant located in an intron of UST associated with job-related exhaustion., [RefSeq, PubMed]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to the 2-OH position of uronyl residues in glycosaminoglycan chains (PubMed:10187838, PubMed:17227754). Has mainly activity toward iduronyl residues in dermatan sulfate, and toward glucuronyl residues of chondroitin sulfate (PubMed:10187838, PubMed:17227754). Has little to no activity toward desulfated N-resulfated heparin or N-sulfoheparosan (PubMed:10187838, PubMed:17227754)., [UniProtKB, PubMed, PubMed]; Uronyl 2-sulfotransferase transfers sulfate to the 2-position of uronyl residues, such as iduronyl residues in dermatan sulfate and glucuronyl residues in chondroitin sulfate (Kobayashi et al., 1999 [PubMed 10187838]).[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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 475, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2RCX6", "ec_number_list": "2.8.2.-", "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0050656 3'-phosphoadenosine 5'-phosphosulfate binding;GO:0034482 chondroitin 2-sulfotransferase activity;GO:0102142 dermatan 2-sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane", "go_biological_process": "GO:0050650 chondroitin sulfate proteoglycan biosynthetic process;GO:0050651 dermatan sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9Y2C2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A1L4Q6-1", "uniprot_id": "YK033_HUMAN", "mass": 18020.0, "length": 167, "protein_name": "Putative uncharacterized protein FLJ41423", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FLJ41423", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZW93", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A1L4Q6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3ZCU0-1", "uniprot_id": "GVQW3_HUMAN", "mass": 29382.0, "length": 254, "protein_name": "Protein GVQW3", "gene_name": "GVQW3", "organism": "Human", "refseq_name": "protein GVQW3 isoform a", "refseq_ac": "NP_001269385", "gene_names_uniprotkb": "GVQW3", "gene_names_refseq": "GVQW3", "protein_names_uniprotkb": "Protein GVQW3; GVQW motif-containing protein 3", "protein_names_refseq": "GVQW motif-containing protein 3; protein GVQW3 isoform a; protein GVQW3", "tax_id": 9606, "disease": "", "pathway": " (hsa:100506127)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;30379171;31844290;32387766;32488085;34561969", "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": "Q8N9C3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q3ZCU0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5V0-1", "uniprot_id": "ZN706_HUMAN", "mass": 8498.0, "length": 76, "protein_name": "Transcriptional regulator ZNF706", "gene_name": "ZNF706", "organism": "Human", "refseq_name": "zinc finger protein 706", "refseq_ac": "NP_001035975", "gene_names_uniprotkb": "ZNF706; HSPC038; PNAS-113", "gene_names_refseq": "HSPC038; PNAS-106; PNAS-113; ZNF706", "protein_names_uniprotkb": "Transcriptional regulator ZNF706; Zinc finger protein 706", "protein_names_refseq": "zinc finger protein 706", "tax_id": 9606, "disease": "", "pathway": " (hsa:51123); (R-HSA-212436)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;21917931;22009320;24715725;25576301;26154972;26992070;27846572;29437277;29493099;29557506;30410026;30429286;30484775;30779550;30833945;31154438;31217245;31844290;31848261;31998317;32157095;32350084;32357974;32983136;33214551;33592498;33717175;33912179;34171305;34185709;34932366;35051231;35318648;35561310;35580925;36215666;36241641;36284347;37217939;37938771;38572746;38665916;38862581;41298547;8183939;8769649;9637681;9653119", "class_list": "", "function": "A novel MYC-ZNF706-SLC7A11 regulatory circuit contributes to cancer progression and redox balance in human hepatocellular carcinoma., [RefSeq, PubMed]; Functional interaction between ICln and HSPC038, [RefSeq, PubMed]; Protein G-quadruplex interactions and their effects on phase transitions and protein aggregation., [RefSeq, PubMed]; Transcription repressor involved in the exit of embryonic stem cells (ESCs) from self-renewal (By similarity). Acts by repressing expression of KLF4 (By similarity). Required for Wnt signaling activation (PubMed:41298547)., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K362", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:1902455 negative regulation of stem cell population maintenance;GO:0006417 regulation of translation;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9Y5V0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6AW86-1", "uniprot_id": "Z324B_HUMAN", "mass": 60602.0, "length": 544, "protein_name": "Zinc finger protein 324B", "gene_name": "ZNF324B", "organism": "Human", "refseq_name": "zinc finger protein 324B", "refseq_ac": "NP_997278", "gene_names_uniprotkb": "ZNF324B", "gene_names_refseq": "ZNF324B", "protein_names_uniprotkb": "Zinc finger protein 324B", "protein_names_refseq": "zinc finger protein 324B", "tax_id": 9606, "disease": "", "pathway": " (hsa:388569); (R-HSA-212436)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25218447;25645385;26375851;27920218;28228285;28832583;29242379;29331515;29508533;29557506;29632711;30315122;31154438;31217245;31844290;31848261;32157095;32983136;33298915;33592498;33912179;34932366;35051231;35318648;35561310;35580925;8183939;8769649;9637681;9653119", "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": 16, "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": "B2RTZ6;Q6ZMX8;Q6ZS42", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q6AW86-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2E3-1", "uniprot_id": "ZNFX1_HUMAN", "mass": 220227.0, "length": 1918, "protein_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "organism": "Human", "refseq_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "protein_names_uniprotkb": "NFX1-type zinc finger-containing protein 1; 2.3.2.27; 3.6.4.-; ATP- dependent RNA translocase ZNFX1; E3 ubiquitin-protein and -ssRNA ligase ZNFX1", "protein_names_refseq": "NFX1-type zinc finger-containing protein 1", "tax_id": 9606, "disease": "immunodeficiency 91 (Disease Ontology:DOID:0061061)", "pathway": " (hsa:57169)", "pathway_count": 1, "publication_count": 97, "publication_id_list": "11237011;15118850;15838384;18991276;20068231;20093428;22544926;22645359;23481700;23783831;24366607;24397554;24715725;25576301;25645385;25892735;26154972;26375851;26811146;26992070;27543614;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;30484775;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33717175;33872655;33876776;33912179;33968037;33981976;34012115;34087483;34171305;34185709;34405274;34708404;34932366;35051231;35154160;35318648;35580925;35635081;36010968;36215666;36241641;36284347;37074911;37938771;37984605;39333773;40876457", "class_list": "", "function": "Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities., [RefSeq, PubMed]; Circular RNA CircSATB2 facilitates osteosarcoma progression through regulating the miR-661/FUS-mediated mRNA of ZNFX1., [RefSeq, PubMed]; Long non-coding RNA ZNFX1 antisense 1 (ZFAS1) suppresses anti-oxidative stress in chondrocytes during osteoarthritis by sponging microRNA-1323., [RefSeq, PubMed]; MAD-CaP-5 (KIAA1404) is a novel prostate cancer antigen., [RefSeq, PubMed]; RNA-activated non-canonical E3 ubiquitin ligase required for cell survival during interferon (IFN) responses. Functions as an ATP-dependent 5'-> 3' RNA translocase that selectively recognizes long single-stranded RNA (ssRNA) molecules (>100 nt) from viral or host origin during immune activation. Upon ssRNA binding, oligomerizes to assemble a split E3 active site in trans, involving the Z-RING domain that binds and activates E2-ubiquitin conjugates, such as UBE2D2, and the RZ catalytic domain that mediates ubiquitin transfer. Catalyzes hydroxyl ubiquitination of the 2'-OH of ssRNA ribose and auto-ubiquitination, generating mainly 'Lys-48'- and 'Lys-6'-linked polyubiquitin chains (PubMed:40876457). Forms ubiquitin-coated RNA condensates and stress granules, thereby regulating RNA metabolism, limiting excessive immune signaling, and preventing IFN-induced cell death (PubMed:33872655, PubMed:40876457). Also required for immunity against some bacteria, such as mycobacteria (PubMed:33876776). Inhibits NLRP3 inflammasome activation by sequestering NLRP3 in the cytoplasm and preventing its translocation to trans-Golgi network vesicles during the resting state. Upon inflammasome activation, is cleaved by CASP1, establishing a feed-forward loop that amplifies NLRP3 inflammasome activity (PubMed:39333773)., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 9606, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9BQM7;Q9BQM8;Q9H8C1;Q9H9S2;Q9NUM1;Q9NWW1", "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:0008270 zinc ion binding;GO:0004386 helicase activity", "go_cellular_component": "GO:0005741 mitochondrial outer membrane;GO:0010494 cytoplasmic stress granule;GO:0031380 nuclear RNA-directed RNA polymerase complex", "go_biological_process": "GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0045071 negative regulation of viral genome replication;GO:0042742 defense response to bacterium;GO:0002218 activation of innate immune response", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q9P2E3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HBT8-1", "uniprot_id": "Z286A_HUMAN", "mass": 60175.0, "length": 521, "protein_name": "Zinc finger protein 286A", "gene_name": "ZNF286A", "organism": "Human", "refseq_name": "zinc finger protein 286A isoform 2", "refseq_ac": "NP_001124314", "gene_names_uniprotkb": "ZNF286A; KIAA1874; ZNF286", "gene_names_refseq": "ZNF286A; ZNF286", "protein_names_uniprotkb": "Zinc finger protein 286A", "protein_names_refseq": "zinc finger protein 286A isoform 2; zinc finger protein ZNF286", "tax_id": 9606, "disease": "", "pathway": " (hsa:57335); (R-HSA-212436)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;23186163;23481700;25576301;29557506;30379171;31530632;31844290;31848261;32157095;32897882;35580925;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4DKF9;Q96JF3", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9HBT8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TBC5-1", "uniprot_id": "ZSC18_HUMAN", "mass": 54804.0, "length": 510, "protein_name": "Zinc finger and SCAN domain-containing protein 18", "gene_name": "ZSCAN18", "organism": "Human", "refseq_name": "zinc finger and SCAN domain-containing protein 18 isoform 1", "refseq_ac": "NP_001139014", "gene_names_uniprotkb": "ZSCAN18; ZNF447", "gene_names_refseq": "ZNF447; ZSCAN18", "protein_names_uniprotkb": "Zinc finger and SCAN domain-containing protein 18; Zinc finger protein 447", "protein_names_refseq": "zinc finger and SCAN domain-containing protein 18 isoform 1; zinc finger and SCAN domain-containing protein 18; zinc finger protein 447", "tax_id": 9606, "disease": "", "pathway": " (hsa:65982)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;24948044;25576301;27846572;29557506;29632711;30429286;31154438;31844290;31848261;32157095;32938616;32983136;33123756;33592498;33936100;33968037;34087483;35051231;35580925;36650573;37223020;39894887", "class_list": "", "function": "A high negative correlation between promoter DNA methylation and gene expression was observed for CDO1, ZNF331 and ZSCAN18 in gastrointestinal tumors., [RefSeq, PubMed]; Inactivation of ZSCAN18 by promoter hypermethylation drives the proliferation via attenuating TP53INP2-mediated autophagy in gastric cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; Zinc finger and SCAN domain-containing protein 18 is a potential DNA methylation-modified tumor suppressor and biomarker in breast cancer. 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DG23;E9PBI0;Q9BRK7;Q9H9A0", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8TBC5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IWR0-1", "uniprot_id": "Z3H7A_HUMAN", "mass": 110538.0, "length": 971, "protein_name": "Zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "organism": "Human", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "protein_names_uniprotkb": "Zinc finger CCCH domain-containing protein 7A", "protein_names_refseq": "zinc finger CCCH domain-containing protein 7A; zinc finger CCCH-type domain containing 7; zinc-finger protein AY163807", "tax_id": 9606, "disease": "", "pathway": " (hsa:29066)", "pathway_count": 1, "publication_count": 73, "publication_id_list": "11237011;17081983;18669648;20068231;23186163;23481700;24275569;24715725;25576301;25645385;25892735;26154972;26811146;26992070;27846572;27920218;28218747;28228285;28431233;28514659;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29632711;29769354;30315122;30379171;30429286;30524438;30620550;31217245;31530632;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33717175;33912179;33968037;33981976;34019948;34171305;34211107;34357683;34509645;34725712;34932366;35051231;35138101;35254053;35513511;35580925;36010968;36241641;36284347;38665916;39531497;40307207", "class_list": "", "function": "May be a specific regulator of miRNA biogenesis. Binds to microRNAs MIR7-1, MIR16-2 and MIR29A hairpins recognizing the 3'-ATA(A/T)-5' motif in the apical loop., [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": 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": 21, "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": "D3DUG5;Q9NPE9", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0035198 miRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0010608 post-transcriptional regulation of gene expression;GO:0035196 miRNA processing", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q8IWR0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PDB4-1", "uniprot_id": "ZN880_HUMAN", "mass": 66762.0, "length": 577, "protein_name": "Zinc finger protein 880", "gene_name": "ZNF880", "organism": "Human", "refseq_name": "zinc finger protein 880", "refseq_ac": "NP_001138906", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "protein_names_uniprotkb": "Zinc finger protein 880", "protein_names_refseq": "zinc finger protein 880; zinc finger protein LOC400713", "tax_id": 9606, "disease": "", "pathway": " (hsa:400713)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "10.1101/2023.09.13.557529;11237011;30379171;33968037;37370088", "class_list": "", "function": "Promoter hypermethylation and comprehensive regulation of ncRNA lead to the down-regulation of ZNF880, providing a new insight for the therapeutics and research of 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": 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": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DNA6", "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:0031981 nuclear lumen;GO:0005634 nucleus", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q6PDB4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H6R6-1", "uniprot_id": "ZDHC6_HUMAN", "mass": 47663.0, "length": 413, "protein_name": "Palmitoyltransferase ZDHHC6", "gene_name": "ZDHHC6", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC6 isoform 2", "refseq_ac": "NP_001290063", "gene_names_uniprotkb": "ZDHHC6; ZNF376", "gene_names_refseq": "DHHC-6; DHHC6; ZDHHC6; ZNF376", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC6; 2.3.1.-; 2.3.1.225; DHHC-6; Stearoyltransferase ZDHHC6; Transmembrane protein H4; Zinc finger DHHC domain-containing protein 6; Zinc finger protein 376", "protein_names_refseq": "palmitoyltransferase ZDHHC6 isoform 2; palmitoyltransferase ZDHHC6; stearoyltransferase ZDHHC6; transmembrane protein H4; zinc finger DHHC domain-containing protein 6; zinc finger DHHC-type containing 6; zinc finger DHHC-type palmitoyltransferase 6; zinc finger protein 376", "tax_id": 9606, "disease": "", "pathway": " (hsa:64429)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;21926431;22314232;22728137;24715725;25368151;26214738;28228285;28826475;29393594;31217245;31844290;33592498;33912179;33968037;35051231", "class_list": "", "function": "DHHC6 knockdown using shRNA in stably transfected cell lines led to decreased expression of the IP3R and impaired IP3R-dependent Ca(2+) flux., [RefSeq, PubMed]; Endoplasmic reticulum palmitoyl acyltransferase that mediates palmitoylation of proteins such as AMFR, CALX, ITPR1 and TFRC (PubMed:22314232, PubMed:22728137, PubMed:25368151, PubMed:28826475). Palmitoylates calnexin (CALX), which is required for its association with the ribosome-translocon complex and efficient folding of glycosylated proteins (PubMed:22314232). Mediates palmitoylation of AMFR, promoting AMFR distribution to the peripheral endoplasmic reticulum (PubMed:22728137). Together with SELENOK, palmitoylates ITPR1 in immune cells, leading to regulate ITPR1 stability and function (PubMed:25368151). Stearoyltransferase that mediates stearoylation of TFRC to inhibit TFRC-mediated activation of the JNK pathway and mitochondrial fragmentation (PubMed:26214738)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Human ZDHHC6, which modifies key proteins of the endoplasmic reticulum, is controlled by an upstream palmitoyltransferase, ZDHHC16, revealing the first palmitoylation cascade. 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": 7, "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": "D3DRB6;Q53G45;Q96IV7;Q9H605", "ec_number_list": "2.3.1.225;6.3.1.2;2.3.1.-", "go_molecular_function": "GO:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0016409 palmitoyltransferase activity;GO:0140439 protein-cysteine S-stearoyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0006612 protein targeting to membrane", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9H6R6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NB50-1", "uniprot_id": "ZFP62_HUMAN", "mass": 102511.0, "length": 900, "protein_name": "Zinc finger protein 62 homolog", "gene_name": "ZFP62", "organism": "Human", "refseq_name": "zinc finger protein 62 homolog isoform 2", "refseq_ac": "NP_001166109", "gene_names_uniprotkb": "ZFP62", "gene_names_refseq": "ZET; ZFP62; ZNF755", "protein_names_uniprotkb": "Zinc finger protein 62 homolog; Zfp-62", "protein_names_refseq": "zfp-62; zinc finger protein 62 homolog isoform 2; zinc finger protein 62 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:643836)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;25218447;25755297;25772364;28411811;28832583;31844290;32157095;33981976;35051231;36215666", "class_list": "", "function": "May play a role in differentiating skeletal muscle., [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": "B4DIP6;B4E0N3;B5MDX6;B7ZVZ2;B9EIP6;E9PFT8;J3QTA9", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region 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": 1.4, "record_id": "Q8NB50-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P37275-1", "uniprot_id": "ZEB1_HUMAN", "mass": 124074.0, "length": 1124, "protein_name": "Zinc finger E-box-binding homeobox 1", "gene_name": "ZEB1", "organism": "Human", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "refseq_ac": "NP_001121600", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "protein_names_uniprotkb": "Zinc finger E-box-binding homeobox 1; NIL-2-A zinc finger protein; Negative regulator of IL2; TCF-8; Transcription factor 8", "protein_names_refseq": "delta-crystallin enhancer binding factor 1; negative regulator of IL2; posterior polymorphous corneal dystrophy 3; transcription factor 8 (represses interleukin 2 expression); zinc finger E-box-binding homeobox 1 isoform a; zinc finger homeodomain enhancer-binding protein", "tax_id": 9606, "disease": "rheumatic heart disease (Disease Ontology:DOID:0050827); posterior polymorphous corneal dystrophy 3 (Disease Ontology:DOID:0110857); hypospadias (Disease Ontology:DOID:10892); Fuchs' endothelial dystrophy (Disease Ontology:DOID:11555); HTLV-1-associated myelopathy/tropical spastic paraparesis (Disease Ontology:DOID:321); acute myocardial infarction (Disease Ontology:DOID:9408)", "pathway": " (hsa:6935); (R-HSA-6785807); (R-HSA-9764725); (R-HSA-9926550)", "pathway_count": 4, "publication_count": 175, "publication_id_list": "10023775;10219247;10369418;10510379;10586089;10655587;10867011;11058569;11084045;11104795;11120780;11237011;11278437;11278729;11356008;11404481;11463377;11518510;11912130;11960372;12223527;12242343;12600988;12700765;12832402;14634100;14712222;15001579;15116091;15261459;15302935;15542832;15584925;15805299;15869882;15950906;16007214;16048438;16061479;16107692;16205632;16236134;16252232;16397018;16451196;16510571;16540365;16606674;17081983;17130829;17427945;17437275;17458857;17572495;17610840;18172091;18243101;18353781;1840704;18447642;18644974;18669648;19124156;19185846;19397496;19413330;19590037;19651622;19690332;19935649;19940119;20036349;20068231;20175752;20418909;20493732;20871592;21102457;21252155;21689689;21730069;21937440;21994466;22046235;22158034;22205702;22383755;22693070;22851691;23086340;23124025;23172665;23186163;23301498;23455323;23466526;23555662;23599324;23967200;24097101;24743777;25086746;25114211;25190660;25218447;25234944;25476932;25728771;25755297;25772364;25892735;26154972;26212009;26992070;28904123;29119051;29557506;29729076;30716301;30898548;31154438;31530632;31831667;31844290;31848261;31998317;32157095;32502341;32543734;32938616;32983136;33298915;33592498;33608512;33717175;33912179;33936100;33968037;34217213;34932366;35008676;35138000;35292107;35561310;35580925;35851744;36010968;36284347;37217939;37986328;39009641;39016138;39327245;7510216;7512451;7529288;7795521;7796300;7898939;7907877;8085155;8138542;8602263;8621622;8663118;8668165;8797861;8816495;9013879;9168821;9651359;9723655;9736340;9822675;9874564", "class_list": "", "function": "Acts as a transcriptional repressor. Inhibits interleukin-2 (IL-2) gene expression. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type. Represses E-cadherin promoter and induces an epithelial-mesenchymal transition (EMT) by recruiting SMARCA4/BRG1. Represses BCL6 transcription in the presence of the corepressor CTBP1. Positively regulates neuronal differentiation. Represses RCOR1 transcription activation during neurogenesis. Represses transcription by binding to the E box (5'-CANNTG-3'). In the absence of TGFB1, acts as a repressor of COL1A2 transcription via binding to the E-box in the upstream enhancer region (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; CCT2 Regulates ZEB1-Induced EMT Gene Transcription to Promote the Metastasis and Tumorigenesis of Papillary Thyroid Carcinoma., [RefSeq, PubMed]; Correlation of FBXO45 Expression Levels with Cancer Severity by ZEB1 Ubiquitin in Non-Small-Cell Lung Cancer., [RefSeq, PubMed]; Four novel pathogenic mutations were identified in four families; two deletions, one nonsense, and one duplication within exon 7 in the ZEB1 gene at 10p11.2. Czech patients were genotyped for a founder haplotype and lack of 20p11.2 locus segregation., [RefSeq, PubMed]; The Zfhx1a-1 gene is autoregulated in part by negative feedback on its own promoter which is, in turn, modified by the availability of the negative dominant isoform Zfhx1a-2., [RefSeq, PubMed]; The identification of a novel missense mutation in only one of the patients implied that TCF8 does not play a significant role in the pathogenesis of FECD in this Chinese population. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs endothelial corneal dystrophy. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2010]., [RefSeq]; Zeb1 mediates EMT/plasticity-associated ferroptosis sensitivity in cancer cells by regulating lipogenic enzyme expression and phospholipid composition., [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": 22, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "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": "B4DJV0;B4DUW9;E9PCM7;F5H4I8;Q12924;Q13800;Q2KJ05;Q5T968;Q5VZ84;Q8NB68", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;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:0045666 positive regulation of neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "P37275-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q52M93-1", "uniprot_id": "Z585B_HUMAN", "mass": 88066.0, "length": 769, "protein_name": "Zinc finger protein 585B", "gene_name": "ZNF585B", "organism": "Human", "refseq_name": "zinc finger protein 585B", "refseq_ac": "NP_689492", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "protein_names_uniprotkb": "Zinc finger protein 585B; zinc finger protein 41-like protein", "protein_names_refseq": "zinc finger protein 41-like protein; zinc finger protein 585B", "tax_id": 9606, "disease": "", "pathway": " (hsa:92285); (R-HSA-212436)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;23481700;28904123;29557506;29786170;30379171;33912179;36010968;36215666;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8IZD3;Q96JW6", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0032502 developmental process;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q52M93-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IVC4-1", "uniprot_id": "ZN584_HUMAN", "mass": 48272.0, "length": 421, "protein_name": "Zinc finger protein 584", "gene_name": "ZNF584", "organism": "Human", "refseq_name": "zinc finger protein 584 isoform 2", "refseq_ac": "NP_001304931", "gene_names_uniprotkb": "ZNF584", "gene_names_refseq": "ZNF584", "protein_names_uniprotkb": "Zinc finger protein 584", "protein_names_refseq": "zinc finger protein 584 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:201514); (R-HSA-212436)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;26992070;28218747;28349825;28834231;39894887;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Total of 1799 differentially methylated regions were identified including SLC6A3, Rab40C, ZNF584, and FOXD3 whose significant methylation differences were confirmed in breast cancer patients through quantitative real-time polymerase chain reaction.Methylation of those aforementioned genes in white blood cells of our young patients may highlight their potential as early epimarkers, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K203", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8IVC4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z570-1", "uniprot_id": "Z804A_HUMAN", "mass": 136888.0, "length": 1209, "protein_name": "Zinc finger protein 804A", "gene_name": "ZNF804A", "organism": "Human", "refseq_name": "zinc finger protein 804A", "refseq_ac": "NP_919226", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "protein_names_uniprotkb": "Zinc finger protein 804A", "protein_names_refseq": "zinc finger protein 804A", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:91752)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "16959974;18452278;18677311;19407193;19844207;27920218;28411811;28832583;28904123;29242379;29508533;29557506;32387766;32897882;32938616;33141586;33298915;33912179;33968037;33981976;35051231;35786202;35796825;36215666;38216065;38279611;38702695", "class_list": "", "function": "A functional neuroimaging association study on the interplay between two schizophrenia genome-wide associated genes (CACNA1C and ZNF804A)., [RefSeq, PubMed]; ANK3 rs10994336 and ZNF804A rs7597593 polymorphisms: genetic interaction for emotional and behavioral symptoms of alcohol withdrawal syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Genome-wide association study of schizophrenia; meta-analysis provided strongest evidence for association around ZNF804A (P = 1.61 x 10(-7)) and this strengthened when the affected phenotype included bipolar disorder (P = 9.96 x 10(-9)) GeneRIF: Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Healthy carriers of rs1344706 risk genotype show no changes in regional activity but pronounced gene dosage-dependent alteration in functional coupling of dorsolateral prefrontal cortex across hemispheres & with hippocampus & abnormal coupling of amygdala GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Impact of ZNF804A rs1344706 or CACNA1C rs1006737 polymorphisms on cognition in patients with severe mental disorders: A systematic review and meta-analysis., [RefSeq, PubMed]; Impulsivity and aggression in alcohol withdrawal syndrome is modulated by the interaction of ZNF804A and mTOR polymorphism., [RefSeq, PubMed]; Schizophrenia risk proteins ZNF804A and NT5C2 interact in cortical neurons., [RefSeq, PubMed]; The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]., [RefSeq]; This study suggested that there is a consistent link between the A allele of rs1344706, increased expression of ZNF804A and risk for schizophrenia. 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 22, "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": "A7E253;Q6ZN26", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030426 growth cone;GO:0043025 neuronal cell body", "go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0010976 positive regulation of neuron projection development;GO:0010975 regulation of neuron projection development;GO:1902952 positive regulation of dendritic spine maintenance", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q7Z570-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2G7-1", "uniprot_id": "ZFP30_HUMAN", "mass": 61558.0, "length": 519, "protein_name": "Zinc finger protein 30 homolog", "gene_name": "ZFP30", "organism": "Human", "refseq_name": "zinc finger protein 30 homolog isoform 1", "refseq_ac": "NP_001307595", "gene_names_uniprotkb": "ZFP30; KIAA0961; ZNF745", "gene_names_refseq": "ZFP30; ZNF745", "protein_names_uniprotkb": "Zinc finger protein 30 homolog; Zfp-30; Zinc finger protein 745", "protein_names_refseq": "zinc finger protein 30 homolog isoform 1; zinc finger protein 30 homolog; zinc finger protein 745", "tax_id": 9606, "disease": "", "pathway": " (hsa:22835); (R-HSA-212436)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;19851296;20198315;2163759;29557506;31000713;31492838;31844290;32157095;33592498;34171305;36010968;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Using murine and human in vitro and in vivo models, study demonstrated that ZFP30 promotes adipogenesis by directly targeting and activating a retrotransposon-derived Pparg2 enhancer. Through mechanistic studies, study further show that ZFP30 recruits the co-regulator KAP1, which acts as a ZFP30 co-activator in this adipogenic context. 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": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q58EY8", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9Y2G7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TC21-1", "uniprot_id": "ZN596_HUMAN", "mass": 58513.0, "length": 504, "protein_name": "Zinc finger protein 596", "gene_name": "ZNF596", "organism": "Human", "refseq_name": "zinc finger protein 596 isoform 1", "refseq_ac": "NP_001035880", "gene_names_uniprotkb": "ZNF596", "gene_names_refseq": "ZNF596", "protein_names_uniprotkb": "Zinc finger protein 596", "protein_names_refseq": "zinc finger protein 596 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:169270); (R-HSA-212436)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;30379171;30653506;31844290;33592498;34171305;8183939;8769649;9637681;9653119", "class_list": "", "function": "A genome-wide search of association between European ancestry and Multiple sclerosis (MS) revealed a region of interest close to the ZNF596 gene on chromosome 8 in Hispanics; cases had a significantly higher proportion of European ancestry compared to controls. Publication Status: Online-Only, [RefSeq, PubMed]; 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": 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": "B2R8P4;O95015;Q8N9X0", "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;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8TC21-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51522-1", "uniprot_id": "ZNF83_HUMAN", "mass": 59710.0, "length": 516, "protein_name": "Zinc finger protein 83", "gene_name": "ZNF83", "organism": "Human", "refseq_name": "zinc finger protein 83", "refseq_ac": "NP_001099019", "gene_names_uniprotkb": "ZNF83; ZNF816B", "gene_names_refseq": "HPF1; ZNF816B; ZNF83", "protein_names_uniprotkb": "Zinc finger protein 83; Zinc finger protein 816B; Zinc finger protein HPF1", "protein_names_refseq": "zinc finger protein 816B; zinc finger protein 83; zinc finger protein HPF1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55769)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;2505992;31844290;31848261;35318648;36241641;37217939;39894887", "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": 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": "A8MT75;Q3ZCX0;Q6PI08", "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:0031981 nuclear lumen", "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": 1.1, "record_id": "P51522-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q03923-1", "uniprot_id": "ZNF85_HUMAN", "mass": 68736.0, "length": 595, "protein_name": "Zinc finger protein 85", "gene_name": "ZNF85", "organism": "Human", "refseq_name": "zinc finger protein 85 isoform b", "refseq_ac": "NP_001243101", "gene_names_uniprotkb": "ZNF85", "gene_names_refseq": "HPF4; HTF1; ZNF85", "protein_names_uniprotkb": "Zinc finger protein 85; Zinc finger protein HPF4; Zinc finger protein HTF1", "protein_names_refseq": "zinc finger protein 85 (HPF4, HTF1); zinc finger protein 85 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:7639)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;2023909;28832583;29242379;29632046;30429286;31217245;31844290;31848261;32157095;32357974;33592498;35021248;9839802", "class_list": "", "function": "Is Molecular Mimicry between hPF4 and SARS-CoV-2 Spike Protein a Potential Basis for Autoimmune Responses in Vaccinated and Naturally Infected Patients?, [RefSeq, PubMed]; May be a transcriptional 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": 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": "B9ZVP4;Q6NVI0", "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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q03923-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BUG6-1", "uniprot_id": "ZSA5A_HUMAN", "mass": 55865.0, "length": 496, "protein_name": "Zinc finger and SCAN domain-containing protein 5A", "gene_name": "ZSCAN5A", "organism": "Human", "refseq_name": "zinc finger and SCAN domain-containing protein 5A isoform b", "refseq_ac": "NP_001308993", "gene_names_uniprotkb": "ZSCAN5A; ZNF495; ZSCAN5", "gene_names_refseq": "ZNF495; ZSCAN5A; ZSCAN5", "protein_names_uniprotkb": "Zinc finger and SCAN domain-containing protein 5A; Zinc finger protein 495", "protein_names_refseq": "zinc finger and SCAN domain containing 5; zinc finger and SCAN domain-containing protein 5A isoform b; zinc finger and SCAN domain-containing protein 5A; zinc finger protein 495", "tax_id": 9606, "disease": "", "pathway": " (hsa:79149)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;16959974;18077418;23481700;25576301;26154972;27846572;27920218;29508533;29632046;31844290;32938750;33936100;33968037;35051231;38253038;40596516", "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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "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": "B4DX98;Q49A73;Q53F04;Q8N7B3", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9BUG6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H707-1", "uniprot_id": "ZN552_HUMAN", "mass": 46198.0, "length": 407, "protein_name": "Zinc finger protein 552", "gene_name": "ZNF552", "organism": "Human", "refseq_name": "zinc finger protein 552", "refseq_ac": "NP_079038", "gene_names_uniprotkb": "ZNF552", "gene_names_refseq": "ZNF552", "protein_names_uniprotkb": "Zinc finger protein 552", "protein_names_refseq": "zinc finger protein 552", "tax_id": 9606, "disease": "", "pathway": " (hsa:79818); (R-HSA-212436)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;20356460;2163759;24715725;25218447;25418920;26992070;27600516;28218747;28832583;29242379;29393594;29437277;29632046;30379171;31844290;32387766;32897882;32983136;33912179;34932366;35051231;35580925;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; ZNF552 was a transcriptional repressor, and overexpression of ZNF552 in the COS-7 cells inhibited the transcriptional activities of AP-1 and SRE, which could be relieved through RNAi analysis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KUE9;Q6P5A6", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9H707-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6P3V2-1", "uniprot_id": "Z585A_HUMAN", "mass": 87974.0, "length": 769, "protein_name": "Zinc finger protein 585A", "gene_name": "ZNF585A", "organism": "Human", "refseq_name": "zinc finger protein 585A isoform b", "refseq_ac": "NP_001275729", "gene_names_uniprotkb": "ZNF585A", "gene_names_refseq": "ZNF585A; Zfp27", "protein_names_uniprotkb": "Zinc finger protein 585A", "protein_names_refseq": "zinc finger protein 585A isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:199704); (R-HSA-212436)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [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": 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": "Q8TE95;Q96MV3", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q6P3V2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "E7ETH6-1", "uniprot_id": "Z587B_HUMAN", "mass": 45541.0, "length": 402, "protein_name": "Zinc finger protein 587B", "gene_name": "ZNF587B", "organism": "Human", "refseq_name": "zinc finger protein 587B isoform 2", "refseq_ac": "NP_001191747", "gene_names_uniprotkb": "ZNF587B", "gene_names_refseq": "ZNF587B", "protein_names_uniprotkb": "Zinc finger protein 587B", "protein_names_refseq": "zinc finger protein 587B isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:100293516)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;25218447;30315122;31844290;31848261;32357974;33298915", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B4DR41", "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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "E7ETH6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35789-1", "uniprot_id": "ZNF93_HUMAN", "mass": 70971.0, "length": 620, "protein_name": "Zinc finger protein 93", "gene_name": "ZNF93", "organism": "Human", "refseq_name": "zinc finger protein 93", "refseq_ac": "NP_112495", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "protein_names_uniprotkb": "Zinc finger protein 93; Zinc finger protein 505; Zinc finger protein HTF34", "protein_names_refseq": "zinc finger protein 505; zinc finger protein 93; zinc finger protein HTF34", "tax_id": 9606, "disease": "", "pathway": " (hsa:81931); (R-HSA-9843940)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10330177;11237011;11959841;12869583;14536086;15882967;16567619;16954381;18082607;19742314;2023909;2028256;25274305;26813693;26992070;28273063;28832583;30379171;31289231;31427381;32387766;33392160;34185709;8769649;9016654", "class_list": "", "function": "Transcription factor specifically required to repress long interspersed nuclear element 1 (L1) retrotransposons: recognizes and binds L1 sequences and repress their expression by recruiting a repressive complex containing TRIM28/KAP1 (PubMed:25274305). Not able to repress expression of all subtypes of L1 elements. Binds to the 5' end of L1PA4, L1PA5 and L1PA6 subtypes, and some L1PA3 subtypes. Does not bind to L1PA7 or older subtypes nor at the most recently evolved L1PA2 and L1Hs. 50% of L1PA3 elements have lost the ZNF93-binding site, explaining why ZNF93 is not able to repress their expression (PubMed:25274305)., [UniProtKB, PubMed]; Zinc finger proteins, and ZNF93 in particular, are involved in resistance to ET-743 and PM00104 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": 35, "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": "A6NMY2;B9EGT2;Q8N8Q4;Q9H9X5;Q9Y2N8", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010526 transposable element silencing;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "P35789-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5BJH7-1", "uniprot_id": "YIF1B_HUMAN", "mass": 34435.0, "length": 314, "protein_name": "Protein YIF1B", "gene_name": "YIF1B", "organism": "Human", "refseq_name": "protein YIF1B isoform 5", "refseq_ac": "NP_001034761", "gene_names_uniprotkb": "YIF1B; PP4519; PRO9905", "gene_names_refseq": "FinGER8; KABAMAS; YIF1B", "protein_names_uniprotkb": "Protein YIF1B; YIP1-interacting factor homolog B", "protein_names_refseq": "YIP1-interacting factor homolog B; protein YIF1B isoform 5; protein YIF1B", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330); Kaya-Barakat-Masson syndrome (MONDO:MONDO:0030878)", "pathway": " (hsa:90522)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "11237011;12975309;15498874;18669648;19690332;20068231;23719902;24715725;25505266;25576301;25880248;26077767;26154972;26992070;27600516;27846572;28063628;28218747;28228285;28514659;28832583;28904123;29237092;29242379;29314611;29331515;29393594;29437277;29557506;29632046;29786170;30315122;30410026;30484775;30620550;30877195;31217245;31492838;31844290;32006098;32157095;32350084;32357974;32387766;32488085;32502341;32648580;32938616;32938750;33103737;33298915;33392160;33592498;33912179;33936100;33968037;34171305;34357683;34561969;35051231;35132862;35254053;35289036;35318648;35513511;35561310;35580925;36215666;36241641;36284347;38665916;39531497;39534244;40596516", "class_list": "", "function": "Functions in endoplasmic reticulum to Golgi vesicle-mediated transport and regulates the proper organization of the endoplasmic reticulum and the Golgi (By similarity). Plays a key role in targeting to neuronal dendrites receptors such as HTR1A (By similarity). Plays also a role in primary cilium and sperm flagellum assembly probably through protein transport to these compartments (PubMed:33103737)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Has a role in transport between endoplasmic reticulum and Golgi., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Prognostic and immune regulating roles of YIF1B in Pan-Cancer: a potential target for both survival and therapy response evaluation., [RefSeq, PubMed]; Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy., [RefSeq, PubMed]; YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations. Erratum:[Brain. 2021 May 7;144(4):e40. doi: 10.1093/brain/awaa449. PMID: 33438001], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "H7BXS8;Q5JPC2;Q8WY70;Q96C02;Q96IC4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0015031 protein transport;GO:0006612 protein targeting to membrane;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0120316 sperm flagellum assembly", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q5BJH7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q03936-1", "uniprot_id": "ZNF92_HUMAN", "mass": 68487.0, "length": 586, "protein_name": "Zinc finger protein 92", "gene_name": "ZNF92", "organism": "Human", "refseq_name": "zinc finger protein 92 isoform 3", "refseq_ac": "NP_001274461", "gene_names_uniprotkb": "ZNF92", "gene_names_refseq": "HEL-203; HPF12; HTF12; TF12; ZNF92", "protein_names_uniprotkb": "Zinc finger protein 92; Zinc finger protein HTF12", "protein_names_refseq": "epididymis luminal protein 203; zinc finger protein 92 isoform 3; zinc finger protein HTF12", "tax_id": 9606, "disease": "", "pathway": " (hsa:168374); (R-HSA-212436)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;19913121;2023909;20628086;2163759;24714562;25576301;25645385;26375851;26728094;26992070;28218747;28228285;28514659;28832583;28834231;29557506;29786170;30315122;30429286;30779550;31092671;31154438;31217245;31844290;32157095;32357974;32983136;33298915;33537174;33633747;33691108;33912179;34185709;35051231;35561310;35580925;36010968;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A6NNF9;Q8N492;Q8NB35", "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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q03936-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q569K4-1", "uniprot_id": "Z385B_HUMAN", "mass": 50407.0, "length": 471, "protein_name": "Zinc finger protein 385B", "gene_name": "ZNF385B", "organism": "Human", "refseq_name": "zinc finger protein 385B isoform 2", "refseq_ac": "NP_001106868", "gene_names_uniprotkb": "ZNF385B; ZNF533", "gene_names_refseq": "ZNF385B; ZNF533", "protein_names_uniprotkb": "Zinc finger protein 385B; Zinc finger protein 533", "protein_names_refseq": "zinc finger protein 385B isoform 2; zinc finger protein 533", "tax_id": 9606, "disease": "", "pathway": " (hsa:151126)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;19240061;19401682;20849254;22945289;23029477;23481700;24599690;25576301;26755636;29557506;29786170;30779550;31848261;33981976;35051231", "class_list": "", "function": "May play a role in p53/TP53-mediated apoptosis., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; The direct binding of ZNF385B with p53 has suggested the involvement of ZNF385B in B-cell apoptosis via modulation of p53 transactivation, [RefSeq, PubMed]; The relationship between ZNF533, environmental factors, and the etiology of nonsyndromic orofacial clefts GeneRIF: Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; The study found significant associations between autism and two SNPs of the ZNF533 gene., [RefSeq, PubMed]; ZNF385B and VEGFA are strongly differentially expressed in serous ovarian carcinomas and correlate with 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q49A04;Q6ZMZ7;Q8IY01;Q8N8H2;Q96DK4", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding;GO:0002039 p53 binding", "go_cellular_component": "GO:0005634 nucleus;GO:0001650 fibrillar center", "go_biological_process": "GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q569K4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08048-1", "uniprot_id": "ZFY_HUMAN", "mass": 90505.0, "length": 801, "protein_name": "Zinc finger Y-chromosomal protein", "gene_name": "ZFY", "organism": "Human", "refseq_name": "zinc finger Y-chromosomal protein isoform 2", "refseq_ac": "NP_001138747", "gene_names_uniprotkb": "ZFY", "gene_names_refseq": "ZFY; ZNF911", "protein_names_uniprotkb": "Zinc finger Y-chromosomal protein", "protein_names_refseq": "zinc finger Y-chromosomal protein isoform 2; zinc finger Y-chromosomal protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:7544)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "10.1101/2023.09.13.557529;10779541;11237011;15557258;18452278;1849423;1854720;20028140;2041734;22407129;2308929;24582729;2498838;2511751;26992070;28834231;29557506;30429286;30620550;31844290;32157095;32357974;32406922;32488085;32938616;33592498;33717175;33968037;34561969;34932366;35051231;35580925;36241641;3690661", "class_list": "", "function": "Characterization of the ZFX family of transcription factors that bind downstream of the start site of CpG island promoters., [RefSeq, PubMed]; Probable transcriptional activator. Binds to the consensus sequence 5'-AGGCCY-3'., [UniProtKB, PubMed]; Studies identified a major testis-specific ZFY transcript that encodes a protein with the same short acidic domain., [RefSeq, PubMed]; This gene encodes a zinc finger-containing protein that may function as a transcription factor. This gene was once a candidate gene for the testis-determining factor (TDF) and was erroneously referred to as TDF. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DVF7;Q14021;Q15558;Q1RME9;Q24JR0;Q96TF3", "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:0043565 sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator 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:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "P08048-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969W1-1", "uniprot_id": "ZDH16_HUMAN", "mass": 43633.0, "length": 377, "protein_name": "Palmitoyltransferase ZDHHC16", "gene_name": "ZDHHC16", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC16 isoform 5", "refseq_ac": "NP_001274732", "gene_names_uniprotkb": "ZDHHC16; APH2; PRO6258", "gene_names_refseq": "APH2; DHHC-16; ZDHHC16", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC16; 2.3.1.225; Abl-philin 2; DHHC-16; Zinc finger DHHC domain-containing protein 16", "protein_names_refseq": "Abl-philin 2; palmitoyltransferase ZDHHC16 isoform 5; probable palmitoyltransferase ZDHHC16; zinc finger DHHC domain-containing protein 16; zinc finger DHHC-type containing 16; zinc finger DHHC-type palmitoyltransferase 16; zinc finger, DHHC domain containing 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:84287)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10.1038/emboj.2013.79;11237011;12975309;16385451;17123647;18491316;23584533;25418920;25892735;28218747;28826475;28904123;29242379;29437277;29485866;30315122;30410026;33298915;35192890;38430044", "class_list": "", "function": "APH2 contains a zf-DHHC domain (148-210aa), which is involved in protein-protein or protein-DNA interaction., [RefSeq, PubMed]; Human ZDHHC6, which modifies key proteins of the endoplasmic reticulum, is controlled by an upstream palmitoyltransferase, ZDHHC16, revealing the first palmitoylation cascade. Publication Status: Online-Only, [RefSeq, PubMed]; METTL3-mediated m6A modification enhances ZDHHC16 expression in nonsmall- cell lung cancer patients, attenuating ferroptosis by suppressing CREB ubiquitination. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Palmitoyl acyltransferase that mediates palmitoylation of proteins such as PLN and ZDHHC6 (PubMed:28826475). Required during embryonic heart development and cardiac function, possibly by mediating palmitoylation of PLN, thereby affecting PLN phosphorylation and homooligomerization (By similarity). Also required for eye development (By similarity). Palmitoylates ZDHHC6, affecting the quaternary assembly of ZDHHC6, its localization, stability and function (PubMed:28826475). May play a role in DNA damage response (By similarity). May be involved in apoptosis regulation (By similarity). Involved in the proliferation of neural stem cells by regulating the FGF/ERK pathway (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; SETD2 Palmitoylation Mediated by ZDHHC16 in Epidermal Growth Factor Receptor-Mutated Glioblastoma Promotes Ionizing Radiation-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": 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": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DR52;D3DR53;D3DR54;Q5JTG7;Q5JTH0;Q8N4Z6;Q8WY84;Q9BSV3", "ec_number_list": "2.3.1.225;6.3.1.2;2.3.1.-", "go_molecular_function": "GO:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0016409 palmitoyltransferase activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0007507 heart development;GO:0006915 apoptotic process;GO:0006974 DNA damage response;GO:0001654 eye development;GO:0021537 telencephalon development", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q969W1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96TA2-1", "uniprot_id": "YMEL1_HUMAN", "mass": 86455.0, "length": 773, "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "gene_name": "YME1L1", "organism": "Human", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "refseq_ac": "NP_001240795", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "protein_names_uniprotkb": "ATP-dependent zinc metalloprotease YME1L1; 3.4.24.-; 3.6.-.-; ATP-dependent metalloprotease FtsH1; Meg-4; PAMP; Presenilin-associated metalloprotease; YME1-like protein 1", "protein_names_refseq": "ATP-dependent metalloprotease FtsH1 homolog; ATP-dependent zinc metalloprotease YME1L1 isoform 4; ATP-dependent zinc metalloprotease YME1L1; YME1-like protein 1; meg-4; presenilin-associated metalloprotease", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); optic atrophy 11 (Disease Ontology:DOID:0111436); dilated cardiomyopathy (Disease Ontology:DOID:12930); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:10730); (R-HSA-8949664); (R-HSA-9837999); (R-HSA-9840373)", "pathway_count": 4, "publication_count": 143, "publication_id_list": "10.1101/2023.09.13.557529;10843804;10958351;11237011;11923310;12198491;12975309;14623864;15522782;15870080;16115876;17101804;17297443;17579211;18076378;18991276;19841671;20068231;20112406;22262461;22645359;22710082;22898188;23090970;23201127;23481700;23931759;24190977;24315374;24366607;24520911;24714562;24715725;25418920;25433032;25505266;25576301;25645385;25880248;26154972;26375851;26504172;26759378;26811146;26923599;26929215;26992070;27495975;27496948;27600516;27642048;27737933;27786171;27846572;27862975;27920218;28063628;28218747;28228285;28377575;28396416;28510447;28832583;28834231;28855257;28904123;29242379;29301859;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;29932645;30120231;30315122;30410026;30524438;31217245;31327635;31611695;31695197;31844290;32132706;32132707;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33237841;33257573;33298915;33465208;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34561969;34704252;34932366;34943861;35051231;35154160;35163244;35251023;35260532;35388015;35561310;35580925;35870450;36010968;36206740;36241641;36284347;36629048;37063426;37327776;37550454;37938771;38769124;40596516;7623837", "class_list": "", "function": "ATP-dependent metalloprotease that catalyzes the degradation of folded and unfolded proteins with a suitable degron sequence in the mitochondrial intermembrane region (PubMed:24315374, PubMed:26923599, PubMed:27786171, PubMed:31695197, PubMed:33237841, PubMed:36206740). Plays an important role in regulating mitochondrial morphology and function by cleaving OPA1 at position S2, giving rise to a form of OPA1 that promotes maintenance of normal mitochondrial structure and mitochondrial protein metabolism (PubMed:18076378, PubMed:26923599, PubMed:27495975, PubMed:33237841). Ensures cell proliferation, maintains normal cristae morphology and complex I respiration activity, promotes antiapoptotic activity and protects mitochondria from the accumulation of oxidatively damaged membrane proteins (PubMed:22262461). Required to control the accumulation of nonassembled respiratory chain subunits (NDUFB6, OX4 and ND1) (PubMed:22262461). Involved in the mitochondrial adaptation in response to various signals, such as stress or developmental cues, by mediating degradation of mitochondrial proteins to rewire the mitochondrial proteome (PubMed:31695197). Catalyzes degradation of mitochondrial proteins, such as translocases, lipid transfer proteins and metabolic enzymes in response to nutrient starvation in order to limit mitochondrial biogenesis: mechanistically, YME1L1 is activated by decreased phosphatidylethanolamine levels caused by LPIN1 activity in response to mTORC1 inhibition (PubMed:31695197). Acts as a regulator of adult neural stem cell self-renewal by promoting mitochondrial proteome rewiring, preserving neural stem and progenitor cells self-renewal (By similarity). Required for normal, constitutive degradation of PRELID1 (PubMed:27495975). Catalyzes the degradation of OMA1 in response to membrane depolarization (PubMed:26923599). Mediates degradation of TIMM17A downstream of the integrated stress response (ISR) (PubMed:24315374). Catalyzes degradation of MICU1 when MICU1 is not assembled via an interchain disulfide (PubMed:36206740). Cleaves STARD7 mitochondrial targeting sequence (PubMed:29301859)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Targeting the mitochondrial protein YME1L to inhibit osteosarcoma cell growth in vitro and in vivo. Publication Status: Online-Only, [RefSeq, PubMed]; The mitochondrial protein YME1 Like 1 is important for non-small cell lung cancer cell growth. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found 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": 1, "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": 5, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 4, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "B4DNM1;D3DRV8;D3DRV9;Q5T8D9;Q9H1Q0;Q9UMR9", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.5.5;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;7.1.1.9;7.1.1.2;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;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.-.-;3.4.21.105;2.7.4.3", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0004176 ATP-dependent peptidase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0010636 positive regulation of mitochondrial fusion;GO:0008283 cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0007005 mitochondrion organization;GO:0009267 cellular response to starvation", "synthesized_glycan_count": 0, "hit_score": 16.0, "record_id": "Q96TA2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H6B1-1", "uniprot_id": "Z385D_HUMAN", "mass": 42296.0, "length": 395, "protein_name": "Zinc finger protein 385D", "gene_name": "ZNF385D", "organism": "Human", "refseq_name": "zinc finger protein 385D", "refseq_ac": "NP_078973", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "protein_names_uniprotkb": "Zinc finger protein 385D; Zinc finger protein 659", "protein_names_refseq": "zinc finger protein 385D; zinc finger protein 659", "tax_id": 9606, "disease": "", "pathway": " (hsa:79750)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;16959974;24024963;28657654;29557506;29786170;33968037;35051231;37217939;39302247", "class_list": "", "function": "ZNF385D is a candidate gene for reading disability and language impairment., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:1990837 sequence-specific double-stranded DNA binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9H6B1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UIJ5-1", "uniprot_id": "ZDHC2_HUMAN", "mass": 42022.0, "length": 367, "protein_name": "Palmitoyltransferase ZDHHC2", "gene_name": "ZDHHC2", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC2 isoform 1", "refseq_ac": "NP_057437", "gene_names_uniprotkb": "ZDHHC2; REAM; REC; ZNF372", "gene_names_refseq": "DHHC2; ZDHHC2; ZNF372", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC2; 2.3.1.-; 2.3.1.225; Acyltransferase ZDHHC2; DHHC-2; Ream; Rec; Reduced expression associated with metastasis protein; Reduced expression in cancer protein; Zinc finger DHHC domain-containing protein 2; Zinc finger protein 372", "protein_names_refseq": "DHHC-2; acyltransferase ZDHHC2; palmitoyltransferase ZDHHC2 isoform 1; palmitoyltransferase ZDHHC2; ream; rec; reduced expression associated with metastasis protein; reduced expression in cancer protein; testis tissue sperm-binding protein Li 56e; zinc finger DHHC domain-containing protein 2; zinc finger DHHC-type containing 2; zinc finger DHHC-type palmitoyltransferase 2; zinc finger protein 372; zinc finger, DHHC domain containing 2", "tax_id": 9606, "disease": "syndrome (Disease Ontology:DOID:225)", "pathway": " (hsa:51201); (R-HSA-5683826); (R-HSA-9694548)", "pathway_count": 3, "publication_count": 83, "publication_id_list": "10368295;10485905;10496952;10580105;10625644;10918388;11237011;11278984;11563989;12185598;12882447;1325798;1339284;1415726;1568474;15926889;16006481;16199866;1636732;16423266;16630564;17496061;18020944;18296695;18508921;18692472;1898081;19100526;19144824;1928448;19824815;20054143;20147294;20338813;20418254;21343290;21471008;22034844;22915798;23069847;23186163;23590306;23684610;23793055;23922714;24743970;24995331;2515193;25424900;2587265;2610270;29557506;29632711;2995821;3037072;30404808;31844290;32180374;32363391;32366695;32518941;32676595;33310888;33488612;3366248;33912179;33968037;34117209;34428449;34528721;34599882;34631;34961524;3755136;3801783;7597036;7986008;8314870;8428971;8522976;8527267;8636114;9813380", "class_list": "", "function": "(Microbial infection) Promotes Chikungunya virus (CHIKV) replication by mediating viral nsp1 palmitoylation., [UniProtKB, PubMed]; DHHC2 affects palmitoylation, stability, and functions of tetraspanins CD9 and CD151, [RefSeq, PubMed]; Fine-mapping of ZDHHC2 identifies risk variants for schizophrenia in the Han Chinese population., [RefSeq, PubMed]; Identification of CKAP4/p63 as a substrate of DHHC2, a putative tumor suppressor., [RefSeq, PubMed]; Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates and is involved in a variety of cellular processes (PubMed:18296695, PubMed:18508921, PubMed:19144824, PubMed:21343290, PubMed:22034844, PubMed:23793055). Has no stringent fatty acid selectivity and in addition to palmitate can also transfer onto target proteins myristate from tetradecanoyl-CoA and stearate from octadecanoyl-CoA (By similarity). In the nervous system, plays a role in long term synaptic potentiation by palmitoylating AKAP5 through which it regulates protein trafficking from the dendritic recycling endosomes to the plasma membrane and controls both structural and functional plasticity at excitatory synapses (By similarity). In dendrites, mediates the palmitoylation of DLG4 when synaptic activity decreases and induces synaptic clustering of DLG4 and associated AMPA-type glutamate receptors (By similarity). Also mediates the de novo and turnover palmitoylation of RGS7BP, a shuttle for Gi/o-specific GTPase-activating proteins/GAPs, promoting its localization to the plasma membrane in response to the activation of G protein-coupled receptors. Through the localization of these GTPase-activating proteins/GAPs, it also probably plays a role in G protein-coupled receptors signaling in neurons (By similarity). Also probably plays a role in cell adhesion by palmitoylating CD9 and CD151 to regulate their expression and function (PubMed:18508921). Palmitoylates the endoplasmic reticulum protein CKAP4 and regulates its localization to the plasma membrane (PubMed:18296695, PubMed:19144824). Could also palmitoylate LCK and regulate its localization to the plasma membrane (PubMed:22034844)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB]; These results suggest an important role for ZDHHC2 as a tumor suppressor in metastasis and recurrence of HCC., [RefSeq, PubMed]; Zdhhc2 Is Essential for Plasmacytoid Dendritic Cells Mediated Inflammatory Response in Psoriasis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 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": "D3DSP5", "ec_number_list": "2.3.1.225;6.3.1.2;2.3.1.-", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0016409 palmitoyltransferase activity;GO:0019705 protein-cysteine S-myristoyltransferase activity;GO:0140439 protein-cysteine S-stearoyltransferase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098837 postsynaptic recycling endosome;GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus", "go_biological_process": "GO:1903539 protein localization to postsynaptic membrane;GO:0072659 protein localization to plasma membrane;GO:1900273 positive regulation of long-term synaptic potentiation;GO:0006612 protein targeting to membrane;GO:0022407 regulation of cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q9UIJ5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZS27-1", "uniprot_id": "ZN662_HUMAN", "mass": 48496.0, "length": 426, "protein_name": "Zinc finger protein 662", "gene_name": "ZNF662", "organism": "Human", "refseq_name": "zinc finger protein 662 isoform 2", "refseq_ac": "NP_001128128", "gene_names_uniprotkb": "ZNF662", "gene_names_refseq": "ZNF662", "protein_names_uniprotkb": "Zinc finger protein 662", "protein_names_refseq": "zinc finger protein 662 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:389114); (R-HSA-212436)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;23481700;30379171;32938616;33392160;36284347;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A1A4T9;F8W7S8;Q6ZNF8;Q6ZQW8", "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_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q6ZS27-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NXF8-1", "uniprot_id": "ZDHC7_HUMAN", "mass": 35140.0, "length": 308, "protein_name": "Palmitoyltransferase ZDHHC7", "gene_name": "ZDHHC7", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC7 isoform 1", "refseq_ac": "NP_001139020", "gene_names_uniprotkb": "ZDHHC7", "gene_names_refseq": "DHHC7; SERZ-B; SERZ1; ZDHHC7; ZNF370", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC7; 2.3.1.-; 2.3.1.225; Acyltransferase ZDHHC7; DHHC-7; Zinc finger DHHC domain-containing protein 7", "protein_names_refseq": "DHHC-7; Sertoli cell gene with zinc finger domain-I(2); Sertoli cell gene with zinc finger domain-beta; acyltransferase ZDHHC7; palmitoyltransferase ZDHHC7 isoform 1; palmitoyltransferase ZDHHC7; zinc finger DHHC domain-containing protein 7; zinc finger DHHC-type containing 7; zinc finger DHHC-type palmitoyltransferase 7; zinc finger protein 370; zinc finger, DHHC domain containing 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:55625); (R-HSA-9009391)", "pathway_count": 2, "publication_count": 102, "publication_id_list": "10319328;10427092;10749889;10806474;11029009;11029403;11043579;11044445;11185956;11237011;11369763;11689445;11773442;11773443;11825873;11981029;12048194;12388769;12421825;12431978;12511868;12588983;12682286;12808053;12881510;1378832;14764897;15033483;15044318;15090535;15231873;15314172;15467163;15496458;15569929;15657067;15705661;15956360;16239258;16274718;16636149;16645038;16835357;16959974;17037979;17424910;17525128;17535799;17916740;17921256;18206197;18657504;19001095;19138696;19879889;20439495;20650261;20861220;21680538;21851428;22028449;22031296;22266855;22446104;24039841;24530924;25301068;25587652;26154972;27288742;27380321;27920218;28196865;28218747;28514659;28539435;29632711;29738483;30418433;31183559;31844290;32157095;32502341;32897882;32938616;33298915;33592498;33968037;34171305;35051231;36241641;37198397;37938771;38253038;7526779;7750475;8782602;8876252;9173876;9395517;9565625;9616126", "class_list": "", "function": "Demonstrated the importance of Zdhhc7 for assembling proper brain structure, function, and behavior on a system level in mice in a sex-related manner, [RefSeq, PubMed]; Golgi-localized palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates and therefore functions in several unrelated biological processes (PubMed:22031296, PubMed:27380321, PubMed:28196865). Has no stringent fatty acid selectivity and in addition to palmitate can also transfer onto target proteins myristate from tetradecanoyl-CoA and stearate from octadecanoyl-CoA (By similarity). Palmitoylates sex steroid hormone receptors, including ESR1, PGR and AR, thereby regulating their targeting to the plasma membrane and their function in rapid intracellular signaling upon binding of sex hormones (PubMed:22031296). Palmitoylates GNAQ, a heterotrimeric G protein, regulating its dynamic localization at the plasma membrane and is thereby involved in GNAQ-dependent G protein-coupled receptor signaling pathways (PubMed:19001095). Also functions in ligand-induced cell death by regulating the FAS signaling pathway through the palmitoylation and stabilization of the receptor at the plasma membrane (PubMed:25301068). In epithelial cells, palmitoylates SCRIB and regulates its localization to the plasma membrane, regulating indirectly cell polarity and differentiation (PubMed:27380321). Also palmitoylates JAM3 and promotes its expression at tight junctions and regulates its function in cell migration (PubMed:28196865). Palmitoylates the glucose transporter GLUT4/SLC2A4 and controls the insulin-dependent translocation of GLUT4 to the plasma membrane (By similarity). In brain, could also palmitoylate SNAP25 and DLG4/PSD95 (By similarity). Could also palmitoylate DNAJC5 and regulate its localization to the Golgi membrane (By similarity). Could also palmitoylate NCDN (By similarity). May play a role in follicle stimulation hormone (FSH) activation of testicular Sertoli cells (By similarity). Activates pyroptosis by catalyzing palmitoylation of gasdermin-D (GSDMD) (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Identified DHHC7 as a JAM-C palmitoylating enzyme, [RefSeq, PubMed]; Palmitoyl acyltransferase ZDHHC7 inhibits androgen receptor and suppresses prostate cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DUM1;Q8WV42;Q9NVD8", "ec_number_list": "2.3.1.225;6.3.1.2;2.3.1.-", "go_molecular_function": "GO:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0016409 palmitoyltransferase activity;GO:0019705 protein-cysteine S-myristoyltransferase activity;GO:0140439 protein-cysteine S-stearoyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0006612 protein targeting to membrane;GO:0043401 steroid hormone receptor signaling pathway;GO:0030521 androgen receptor signaling pathway;GO:1903076 regulation of protein localization to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q9NXF8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H8X9-1", "uniprot_id": "ZDH11_HUMAN", "mass": 45975.0, "length": 412, "protein_name": "Palmitoyltransferase ZDHHC11", "gene_name": "ZDHHC11", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC11 isoform 2", "refseq_ac": "NP_079062", "gene_names_uniprotkb": "ZDHHC11; ZNF399", "gene_names_refseq": "ZDHHC11; ZNF399", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC11; 2.3.1.225; DHHC-11; Zinc finger DHHC domain-containing protein 11; Zinc finger protein 399", "protein_names_refseq": "DHHC-11; palmitoyltransferase ZDHHC11 isoform 2; palmitoyltransferase ZDHHC11; probable palmitoyltransferase ZDHHC11; zinc finger DHHC domain-containing protein 11; zinc finger DHHC-type containing 11; zinc finger protein 399; zinc finger, DHHC domain containing 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:79844); (R-HSA-9694548)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "11237011;12975309;16647879;18025801;22915798;23687301;28331227;29242379;32363391;32366695;32518941;32676595;33310888;33392160;33592498;34117209;34428449;34528721;34599882;34961524;38627588;7986008", "class_list": "", "function": "Also has a palmitoyltransferase activity-independent function in DNA virus-triggered and CGAS-mediated innate immune response (PubMed:28331227). Functions as an adapter that recruits IRF3 to STING1 to promote the activation of that key transcriptional regulator of type I interferon (IFN)-dependent immune response (PubMed:28331227)., [UniProtKB, PubMed]; Circular ZDHHC11 supports Burkitt lymphoma growth independent of its miR-150 binding capacity. Publication Status: Online-Only, [RefSeq, PubMed]; Data suggest that gain of 5p15.33 (TPPP and ZDHHC11) may become a potential biomarker identifying high-risk patients with disease progression in bladder cancer., [RefSeq, PubMed]; Endoplasmic reticulum-localized palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates and be involved in a variety of cellular processes (By similarity). Has a palmitoyltransferase activity toward NCDN and regulates NCDN association with endosome membranes through this palmitoylation (By similarity). May play a role in cell proliferation (PubMed:28331227)., [UniProtKB, PubMed, UniProtKB]; First, MYC downregulates miR-150 to unleash MYB from the miR-150-mediated repression. Second, MYC induces ZDHHC11 and ZDHHC11B that further ensures the maintenance of high MYB levels GeneRIF: ZDHHC11 and ZDHHC11B are novel targets of miR-150 with a key role in maintaining elevated levels of the MYB oncogene required for the high proliferation rate of Burkitt lymphoma cells., [RefSeq, PubMed]; In silico screening for palmitoyl substrates reveals a role for DHHC1/3/10 (zDHHC1/3/11)-mediated neurochondrin palmitoylation in its targeting to Rab5-positive endosomes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "Q6UWR9", "ec_number_list": "2.3.1.225;6.3.1.2;2.3.1.-", "go_molecular_function": "GO:0035591 signaling adaptor activity;GO:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0016409 palmitoyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0006612 protein targeting to membrane;GO:0002230 positive regulation of defense response to virus by host;GO:0018230 peptidyl-L-cysteine S-palmitoylation;GO:0140374 antiviral innate immune response", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9H8X9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6NXT4-1", "uniprot_id": "ZNT6_HUMAN", "mass": 51116.0, "length": 461, "protein_name": "Zinc transporter 6", "gene_name": "SLC30A6", "organism": "Human", "refseq_name": "zinc transporter 6 isoform 1", "refseq_ac": "NP_001180442", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "protein_names_uniprotkb": "Zinc transporter 6; Solute carrier family 30 member 6; ZnT-6", "protein_names_refseq": "solute carrier family 30 (zinc transporter), member 6; zinc transporter 6 isoform 1; zinc transporter 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:55676)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "11237011;15154973;15994300;16580781;17081983;18669648;18691976;19366695;19759014;22706990;24715725;25418920;25645385;26992070;27920218;28218747;28228285;28411811;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;30315122;30779550;31154438;31844290;32350084;32357974;32387766;32488085;32938616;32938750;33298915;33392160;33537174;33592498;33631610;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34509645;35051231;35251023;35254053;35289036;35525268;35580925;36010968;36241641;37541260;37938771;38091184;39367979;39531497", "class_list": "", "function": "An Overexpression of SLC30A6 Gene Contributes to Cardiomyocyte Dysfunction via Affecting Mitochondria and Inducing Activations in K-Acetylation and Epigenetic Proteins., [RefSeq, PubMed]; Has probably no intrinsic transporter activity but together with SLC30A5 forms a functional zinc ion:proton antiporter heterodimer, mediating zinc entry into the lumen of organelles along the secretory pathway (PubMed:15994300, PubMed:19366695, PubMed:19759014). As part of that zinc ion:proton antiporter, contributes to zinc ion homeostasis within the early secretory pathway and regulates the activation and folding of enzymes like alkaline phosphatases and enzymes involved in phosphatidylinositol glycan anchor biosynthesis (PubMed:15994300, PubMed:19759014, PubMed:35525268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Increased expression of zinc transporter ZIP4, ZIP11, ZnT1, and ZnT6 predicts poor prognosis in pancreatic cancer., [RefSeq, PubMed]; Our results show that Zn transporter-4 and Zn transporter-6 are significantly (P<0.05) increased in hippocampus/parahippocampal gyrus of early Alzheimer's disease and Alzheimer's disease subjects., [RefSeq, PubMed]; SENP1 mediates zinc-induced ZnT6 deSUMOylation at Lys-409 involved in the regulation of zinc metabolism in Golgi apparatus. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of a family of proteins that function as zinc transporters. This protein can regulate subcellular levels of zinc in the Golgi and vesicles. Expression of this gene is altered in the Alzheimer's disease brain plaques. [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": 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": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 12, "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": "A5YM45;B7Z901;Q8N5C9;Q96NC3", "ec_number_list": "", "go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0015297 antiporter activity;GO:0008324 monoatomic cation transmembrane transporter activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0032588 trans-Golgi network membrane;GO:0016324 apical plasma membrane;GO:0012505 endomembrane system;GO:0016020 membrane", "go_biological_process": "GO:0006829 zinc ion transport;GO:0071579 regulation of zinc ion transport;GO:1904257 zinc ion import into Golgi lumen;GO:0071577 zinc ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q6NXT4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51523-1", "uniprot_id": "ZNF84_HUMAN", "mass": 85457.0, "length": 738, "protein_name": "Zinc finger protein 84", "gene_name": "ZNF84", "organism": "Human", "refseq_name": "zinc finger protein 84", "refseq_ac": "NP_001120844", "gene_names_uniprotkb": "ZNF84", "gene_names_refseq": "HPF2; ZNF84", "protein_names_uniprotkb": "Zinc finger protein 84; Zinc finger protein HPF2", "protein_names_refseq": "zinc finger protein 84; zinc finger protein HPF2", "tax_id": 9606, "disease": "", "pathway": " (hsa:7637)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;11856868;1945843;21406692;23186163;2505992;26992070;28218747;28832583;28904123;29242379;29437277;29610946;30379171;31154438;31217245;31844290;32157095;32161166;32357974;32938616;33298915;33633747;33968037;34405274;35051231;35580925;36241641", "class_list": "", "function": "FISH assignment to chromosome 12q24.33; gene organization and splicing, [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; ZNF84 expression was increased in CC [cervical cancer ] tissues and associated with tumor size. ZNF84 promoted cell proliferation which might involve Akt signal., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2RAK5;D3DXJ1;Q3ZCV9;Q5D057;Q86XU8;Q9NNX7;Q9UC17;Q9UC18", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "P51523-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H5U6-1", "uniprot_id": "ZCHC4_HUMAN", "mass": 59010.0, "length": 513, "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "gene_name": "ZCCHC4", "organism": "Human", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "refseq_ac": "NP_079212", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "protein_names_uniprotkb": "rRNA N(6)-adenosine-methyltransferase ZCCHC4; 2.1.1.-; Zinc finger CCHC domain-containing protein 4", "protein_names_refseq": "DHHC domain-containing zinc finger protein; rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1; rRNA N(6)-adenosine-methyltransferase ZCCHC4; rRNA N6-adenosine-methyltransferase ZCCHC4; zinc finger CCHC domain-containing protein 4; zinc finger, CCHC domain containing 4; zinc finger, GRF-type containing 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:29063)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15225602;17081983;25880248;26154972;26811146;26992070;27920218;28228285;28832583;28904123;29242379;29393594;29557506;29632046;30315122;30531910;31328227;31695039;31799605;31844290;32157095;32357974;33691108;34185709;35051231;35853866;36010968;37606162;38326863", "class_list": "", "function": "3.1 A-resolution crystal structure of human CCHC zinc finger-containing protein ZCCHC4, a 28S rRNA-specific m(6)A methyltransferase, bound to S-adenosyl-L-homocysteine. Mutational and enzymatic analyses further substantiate the molecular basis for ZCCHC4-RNA recognition and a role of the stem-loop structure within substrate in governing the substrate specificity. Publication Status: Online-Only, [RefSeq, PubMed]; In summary, we establish ZCCHC4 as the enzyme responsible for m6A modification of human 28S rRNA, and demonstrate its functional significance in mRNA translation., [RefSeq, PubMed]; RNA-binding protein ZCCHC4 promotes human cancer chemoresistance by disrupting DNA-damage-induced apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; The epigenetic downregulation of LncGHRLOS mediated by RNA m6A methylase ZCCHC4 promotes colorectal cancer tumorigenesis. Erratum:[J Exp Clin Cancer Res. 2024 Mar 12;43(1):78. doi: 10.1186/s13046-024-03005-y. PMID: 38561777] Publication Status: Online-Only, [RefSeq, PubMed]; ZCCHC4 Promotes Osteosarcoma Progression by Upregulating ITGB1., [RefSeq, PubMed]; ZCCHC4 protein is overexpressed in hepatocellular carcinoma tumors.ZCCHC4 is an m6A RNA methyltransferase. Erratum:[Nat Chem Biol. 2019 May;15(5):549. doi: 10.1038/s41589-019-0233-6. PMID: 30737498], [RefSeq, PubMed]; rRNA N6-methyltransferase that specifically methylates the adenine in position 4220 of 28S rRNA (PubMed:30531910, PubMed:31328227, PubMed:31695039, PubMed:31799605). N6-methylation of adenine(4220) in 28S rRNA is required for translation (PubMed:30531910, PubMed:31799605)., [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": 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": 9, "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": "B2RXF6;B4DRD8;B7ZW20;Q5IW78;Q96AN7", "ec_number_list": "2.1.1.-", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding;GO:1904047 S-adenosyl-L-methionine binding;GO:0008988 rRNA (adenine-N6-)-methyltransferase activity", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0031167 rRNA methylation;GO:0045727 positive regulation of translation", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9H5U6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6N043-1", "uniprot_id": "Z280D_HUMAN", "mass": 109285.0, "length": 979, "protein_name": "Zinc finger protein 280D", "gene_name": "ZNF280D", "organism": "Human", "refseq_name": "zinc finger protein 280D isoform 2", "refseq_ac": "NP_001002843", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "protein_names_uniprotkb": "Zinc finger protein 280D; Suppressor of hairy wing homolog 4; Zinc finger protein 634", "protein_names_refseq": "suppressor of hairy wing homolog 4; zinc finger protein 280D isoform 2; zinc finger protein 634", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); intellectual disability (Disease Ontology:DOID:1059)", "pathway": " (hsa:54816)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "10.1101/2023.09.13.557529;11230166;11237011;18220336;18669648;20068231;20798984;23186163;24029068;24190977;24714562;25218447;25576301;25755297;25772364;25892735;26375851;26728094;26811146;26992070;27600516;27846572;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30429286;31217245;31844290;32157095;32265295;32357974;32502341;32938616;32938750;32983136;33592498;33717175;33912179;33981976;34211107;35051231;35580925;36010968;37938771;39534244", "class_list": "", "function": "As a first exploitation of this unique cohort, we identify three novel candidate dyslexia genes, ZNF280D and TCF12 at 15q21, and PDE7B at 6q23.3, by molecular mapping of the familial translocation with the 15q21 breakpoint., [RefSeq, PubMed]; May function as a transcription factor., [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "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": "A1L495;B2RMT6;Q6MZM6;Q6N085;Q6P2R6;Q7Z6J5;Q9H0U5;Q9HCI8;Q9NXS0", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q6N043-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IYP9-1", "uniprot_id": "ZDH23_HUMAN", "mass": 45983.0, "length": 409, "protein_name": "Palmitoyltransferase ZDHHC23", "gene_name": "ZDHHC23", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC23 isoform c", "refseq_ac": "NP_775841", "gene_names_uniprotkb": "ZDHHC23", "gene_names_refseq": "DHHC-23; NIDD; ZDHHC23", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC23; 2.3.1.225; DHHC-23; Zinc finger DHHC domain-containing protein 23; zDHHC23", "protein_names_refseq": "palmitoyltransferase ZDHHC23 isoform c; palmitoyltransferase ZDHHC23; zinc finger DHHC domain-containing protein 23; zinc finger DHHC-type containing 23; zinc finger DHHC-type palmitoyltransferase 23", "tax_id": 9606, "disease": "", "pathway": " (hsa:254887)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;22399288;27920218;28514659;29393594;29557506;35051231", "class_list": "", "function": "Palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates and be involved in a variety of cellular processes (Probable). Palmitoyltransferase that mediates palmitoylation of KCNMA1, regulating localization of KCNMA1 to the plasma membrane. May be involved in NOS1 regulation and targeting to the synaptic membrane., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DN76", "ec_number_list": "2.3.1.225;6.3.1.2;2.3.1.-", "go_molecular_function": "GO:0019706 protein-cysteine S-palmitoyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0006612 protein targeting to membrane;GO:0018345 protein palmitoylation", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8IYP9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96IU2-1", "uniprot_id": "ZBED3_HUMAN", "mass": 25132.0, "length": 234, "protein_name": "Zinc finger BED domain-containing protein 3", "gene_name": "ZBED3", "organism": "Human", "refseq_name": "zinc finger BED domain-containing protein 3", "refseq_ac": "NP_001316493", "gene_names_uniprotkb": "ZBED3", "gene_names_refseq": "ZBED3", "protein_names_uniprotkb": "Zinc finger BED domain-containing protein 3; Axin-interacting protein", "protein_names_refseq": "2610005H11Rik; axin-interacting protein; zinc finger BED domain-containing protein 3; zinc finger, BED domain containing 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:84327)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;18691976;19141611;24283382;30417576;30805970;34427978;35200111;37148315;38182896", "class_list": "", "function": "Acts as a positive regulator in the activation of the canonical Wnt/beta-catenin signaling pathway by stabilizing cytoplasmic beta-catenin (By similarity). Involved in transcription activation of Wnt target gene expression (By similarity). Plays a role in symmetric division of blastomeres in the early stages of embryogenesis via regulation of mitotic spindle central positioning and organization of the F-actin filament network (By similarity). Plays a role in regulating the distribution of cellular organelles, via modulation of cytoskeletal dynamics and cytoplasmic lattice formation (By similarity)., [UniProtKB, UniProtKB]; Circular RNA hsa_circ_0119412 contributes to tumorigenesis of gastric cancer via the regulation of the miR-1298-5p/zinc finger BED-type containing 3 (ZBED3) axis., [RefSeq, PubMed]; Long noncoding RNA ZBED3-AS1 restrains breast cancer progression by targeting the microRNA-513a-5p/KLF6 axis., [RefSeq, PubMed]; RNA 5-methylcytosine writer NSUN5 promotes hepatocellular carcinoma cell proliferation via a ZBED3-dependent mechanism., [RefSeq, PubMed]; Results suggest that the Zbed3 protein may be a cytokine associated with insulin resistance in humans that is influenced by glucose and insulin levels., [RefSeq, PubMed]; The function of BED finger domain of Zbed3 in regulating lung cancer cell proliferation., [RefSeq, PubMed]; This gene belongs to a class of genes that arose through hAT DNA transposition and that encode regulatory proteins. This gene is upregulated in lung cancer tissues, where the encoded protein causes an accumulation of beta-catenin and enhanced lung cancer cell invasion. In addition, the encoded protein can be secreted and be involved in resistance to insulin. [provided by RefSeq, Jul 2016]., [RefSeq]; Zbed3 enhances lung cancer cell proliferation., [RefSeq, PubMed]; Zbed3 is a novel Axin-binding protein that is involved in Wnt/beta-catenin signaling modulation., [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": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;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:0003677 DNA binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0000785 chromatin", "go_biological_process": "GO:0051293 establishment of spindle localization;GO:0007015 actin filament organization;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0001933 negative regulation of protein phosphorylation;GO:0050821 protein stabilization", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q96IU2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NXT0-1", "uniprot_id": "ZN586_HUMAN", "mass": 46413.0, "length": 402, "protein_name": "Zinc finger protein 586", "gene_name": "ZNF586", "organism": "Human", "refseq_name": "zinc finger protein 586 isoform b", "refseq_ac": "NP_001070894", "gene_names_uniprotkb": "ZNF586", "gene_names_refseq": "ZNF586", "protein_names_uniprotkb": "Zinc finger protein 586", "protein_names_refseq": "zinc finger protein 586 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:54807); (R-HSA-212436)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;23481700;24714562;26728094;26992070;29393594;29493099;29557506;31848261;32157095;32938616;32983136;33298915;34932366;35580925;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A0JLV8;A8MY63;B3KTS9;E7ERT1;G3XAH3", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9NXT0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PM9-4", "uniprot_id": "Z385A_HUMAN", "mass": 40454.0, "length": 386, "protein_name": "Zinc finger protein 385A", "gene_name": "ZNF385A", "organism": "Human", "refseq_name": "zinc finger protein 385A isoform a", "refseq_ac": "NP_001124439", "gene_names_uniprotkb": "ZNF385A; HZF; RZF; ZNF385", "gene_names_refseq": "HZF; RZF; ZFP385; ZNF385A; ZNF385", "protein_names_uniprotkb": "Zinc finger protein 385A; Hematopoietic zinc finger protein; Retinal zinc finger protein", "protein_names_refseq": "hematopoietic zinc finger protein; retinal zinc finger protein; zinc finger protein 385A isoform a; zinc finger protein 385", "tax_id": 9606, "disease": "", "pathway": " (hsa:25946); (R-HSA-6804114); (R-HSA-6804116); (R-HSA-6804759); (R-HSA-69895)", "pathway_count": 5, "publication_count": 100, "publication_id_list": "10329733;10524633;10891498;11574543;11684014;11812999;12203124;12494467;12524540;12692263;14580351;14633988;14729977;15133492;15186775;15527981;15574328;15598651;15722552;16382142;16772293;17145718;17172876;17719541;18194653;18202719;18275817;18676979;19303885;20075864;20460379;20817677;21697133;22172947;22538442;22802528;22802529;22864287;22975685;23064264;23186163;23481700;23485469;24096481;24714389;24715725;25356872;25576301;26154972;26992070;27452520;27543614;27846572;27920218;28228285;28832583;28834231;29084334;29242379;29508533;29557506;29632711;29786170;29789417;30315122;30429286;31092671;31154438;31217245;31844290;31848261;31937595;32157095;32350084;32387766;32502341;32938616;32983136;33141586;33298915;33717175;33936100;33968037;34087483;34509645;34932366;35051231;35251023;35580925;36010968;36241641;36284347;36581221;36834567;37938771;7784094;7973727;8242752;9659898;9780002", "class_list": "", "function": "Brain gene expression of PADI2, ZNF385A, PSD2, and A2ML1 and DNA methylation dysregulations are implicated in the alteration of brain tissue properties associated with late-life cognitive decline above and beyond the influence of common neuropathologic conditions., [RefSeq, PubMed]; RNA-binding protein that affects the localization and the translation of a subset of mRNA. May play a role in adipogenesis through binding to the 3'-UTR of CEBPA mRNA and regulation of its translation. Targets ITPR1 mRNA to dendrites in Purkinje cells, and may regulate its activity-dependent translation. With ELAVL1, binds the 3'-UTR of p53/TP53 mRNAs to control their nuclear export induced by CDKN2A. Hence, may regulate p53/TP53 expression and mediate in part the CDKN2A anti-proliferative activity. May also bind CCNB1 mRNA. Alternatively, may also regulate p53/TP53 activity through direct protein-protein interaction. Interacts with p53/TP53 and promotes cell-cycle arrest over apoptosis enhancing preferentially the DNA binding and transactivation of p53/TP53 on cell-cycle arrest target genes over proapoptotic target genes. May also regulate the ubiquitination and stability of CDKN1A promoting DNA damage-induced cell cycle arrest. Also plays a role in megakaryocytes differentiation., [UniProtKB, PubMed]; Results suggest that RZF is a shuttling regulatory protein expressed in photoreceptors of the human retina that may be involved in mRNA or protein regulation of photoreceptor-specific genes and therefore have role in retinal disease mechanisms., [RefSeq, PubMed]; ZNF385A and ZNF346 Serve as Prognostic Biomarkers Associated with an Inflamed Immunosuppressive Tumor Microenvironment in Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Zinc finger proteins, such as ZNF385A, are regulatory proteins that act as transcription factors, bind single- or double-stranded RNA, or interact with other proteins (Sharma et al., 2004 [PubMed 15527981]).[supplied by OMIM, Oct 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RDN5;B4DKH2;F1T0F1;J3KNS3;Q5VH53;Q9H7R6;Q9UFU3", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0003730 mRNA 3'-UTR binding;GO:0002039 p53 binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0030425 dendrite", "go_biological_process": "GO:2000765 regulation of cytoplasmic translation;GO:0010609 mRNA localization resulting in post-transcriptional regulation of gene expression;GO:0006351 DNA-templated transcription;GO:0045600 positive regulation of fat cell differentiation;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q96PM9-4", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NX65-1", "uniprot_id": "ZSC32_HUMAN", "mass": 78728.0, "length": 697, "protein_name": "Zinc finger and SCAN domain-containing protein 32", "gene_name": "ZSCAN32", "organism": "Human", "refseq_name": "zinc finger and SCAN domain-containing protein 32 isoform a", "refseq_ac": "NP_001271456", "gene_names_uniprotkb": "ZSCAN32; HCCS5; ZNF434", "gene_names_refseq": "HCCS-5; ZNF434; ZSCAN32", "protein_names_uniprotkb": "Zinc finger and SCAN domain-containing protein 32; HCCS-5; Human cervical cancer suppressor gene 5 protein; Zinc finger protein 434", "protein_names_refseq": "human cervical cancer suppressor gene 5 protein; zinc finger and SCAN domain-containing protein 32 isoform a; zinc finger and SCAN domain-containing protein 32; zinc finger protein 434", "tax_id": 9606, "disease": "", "pathway": " (hsa:54925); (R-HSA-212436)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;23481700;26992070;27846572;29437277;29485866;29557506;30429286;31844290;32157095;32387766;32502341;33298915;33912179;34171305;34932366;35051231;35580925;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; May regulate transcriptional activity., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B4DWL5;C9JB03;Q6WMU8;Q7Z6G2;Q8NFX8;Q9BU74", "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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9NX65-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZN3-1", "uniprot_id": "ZDH14_HUMAN", "mass": 53388.0, "length": 488, "protein_name": "Palmitoyltransferase ZDHHC14", "gene_name": "ZDHHC14", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC14 isoform 1", "refseq_ac": "NP_078906", "gene_names_uniprotkb": "ZDHHC14", "gene_names_refseq": "NEW1CP; ZDHHC14", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC14; 2.3.1.225; DHHC domain-containing cysteine-rich protein 14; DHHC-14; NEW1 domain-containing protein; NEW1CP; Zinc finger DHHC domain-containing protein 14", "protein_names_refseq": "DHHC domain-containing cysteine-rich protein 14; DHHC-14; NEW1 domain-containing protein; palmitoyltransferase ZDHHC14 isoform 1; probable palmitoyltransferase ZDHHC14; zinc finger DHHC domain-containing protein 14; zinc finger DHHC-type containing 14; zinc finger DHHC-type palmitoyltransferase 14; zinc finger, DHHC domain containing 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:79683)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;16647879;18669648;20068231;21151021;23186163;24407904;24715725;24807047;27481942;30315122;31844290;33185190;34357683", "class_list": "", "function": "Identify ZDHHC14 as a novel tumour suppressor gene that is commonly down-regulated in testicular germ cell tumours and prostate cancer. Erratum:[J Pathol. 2014 Sep;234(1):134], [RefSeq, PubMed]; Palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates. May have a palmitoyltransferase activity toward the beta-2 adrenergic receptor/ADRB2 and thereby regulate G protein-coupled receptor signaling (PubMed:27481942). May play a role in cell differentiation and apoptosis (PubMed:21151021, PubMed:24407904)., [UniProtKB, PubMed, PubMed, PubMed]; Results indicate that ZDHHC14 is involved in tumor progression in patients with scirrhous type gastric cancer., [RefSeq, PubMed]; The palmitoyl acyltransferase ZDHHC14 controls Kv1-family potassium channel clustering at the axon initial segment. 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": 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": "A6NDB7;Q5JS07;Q5JS08;Q6PHS4;Q8IZN2;Q9H7F1", "ec_number_list": "2.3.1.225;6.3.1.2;2.3.1.-", "go_molecular_function": "GO:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0016409 palmitoyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane;GO:0032580 Golgi cisterna membrane;GO:0016020 membrane", "go_biological_process": "GO:0006612 protein targeting to membrane;GO:0018230 peptidyl-L-cysteine S-palmitoylation", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8IZN3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NK75-1", "uniprot_id": "ZNF98_HUMAN", "mass": 65799.0, "length": 572, "protein_name": "Zinc finger protein 98", "gene_name": "ZNF98", "organism": "Human", "refseq_name": "zinc finger protein 98", "refseq_ac": "NP_001092096", "gene_names_uniprotkb": "ZNF98; ZNF739", "gene_names_refseq": "F7175; ZNF739; ZNF98", "protein_names_uniprotkb": "Zinc finger protein 98; Zinc finger protein 739; Zinc finger protein F7175", "protein_names_refseq": "zinc finger protein 739; zinc finger protein 98; zinc finger protein F7175", "tax_id": 9606, "disease": "", "pathway": " (hsa:148198)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;25645385;30315122;31844290;32357974;32387766;33912179;8467795", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 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_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A6NK75-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q03938-1", "uniprot_id": "ZNF90_HUMAN", "mass": 69058.0, "length": 601, "protein_name": "Zinc finger protein 90", "gene_name": "ZNF90", "organism": "Human", "refseq_name": "zinc finger protein 90", "refseq_ac": "NP_009069", "gene_names_uniprotkb": "ZNF90", "gene_names_refseq": "HTF9; ZNF90", "protein_names_uniprotkb": "Zinc finger protein 90; Zinc finger protein HTF9", "protein_names_refseq": "zinc finger protein 90; zinc finger protein HTF9", "tax_id": 9606, "disease": "", "pathway": " (hsa:7643)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;15146197;2023909;25892735;28832583;29242379;29769354;30429286;30784271;31844290;33691108", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B9EH87", "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_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q03938-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NEW0-1", "uniprot_id": "ZNT7_HUMAN", "mass": 41626.0, "length": 376, "protein_name": "Zinc transporter 7", "gene_name": "SLC30A7", "organism": "Human", "refseq_name": "zinc transporter 7", "refseq_ac": "NP_001138356", "gene_names_uniprotkb": "SLC30A7; ZNT7; ZNTL2", "gene_names_refseq": "SLC30A7; ZHS; ZNT7; ZnT-7; ZnTL2", "protein_names_uniprotkb": "Zinc transporter 7; Solute carrier family 30 member 7; ZnT-7; Znt-like transporter 2", "protein_names_refseq": "solute carrier family 30 (zinc transporter), member 7; zinc transporter 7; zinc transporter ZnT-7; zinc transporter like 2; znt-like transporter 2", "tax_id": 9606, "disease": "carcinoma (Disease Ontology:DOID:305); Ziegler-Huang syndrome (MONDO:MONDO:0957595)", "pathway": " (hsa:148867)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;12446736;15276077;15525635;15994300;25576301;25645385;26375851;26992070;28218747;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29769354;29786170;30315122;30410026;30524438;30779550;30833945;31154438;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33592498;33912179;33968037;33981976;34087483;34171305;34185709;34932366;35051231;35580925;35607288;35751429;36010968;36215666;36241641;36284347;36821639;38393693;38665916", "class_list": "", "function": "De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome., [RefSeq, PubMed]; Functions as a zinc transporter., [UniProtKB, UniProtKB]; Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure., [RefSeq, PubMed]; Investigation of cuproptosis regulator-mediated modification patterns and SLC30A7 function in GBM., [RefSeq, PubMed]; MiR-200c-3p regulates pyroptosis by targeting SLC30A7 in diabetic retinopathy., [RefSeq, PubMed]; Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A7, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM, Mar 2008]., [RefSeq]; Zinc ion transporter mediating zinc entry from the cytosol into the lumen of organelles along the secretory pathway (PubMed:15525635, PubMed:15994300). By contributing to zinc ion homeostasis within the early secretory pathway, regulates the activation and folding of enzymes like alkaline phosphatases (PubMed:15525635, PubMed:15994300)., [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": 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": "B2R949;D3DT61;Q8TCH2", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:1990674 Golgi cis cisterna membrane;GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006882 intracellular zinc ion homeostasis;GO:1904257 zinc ion import into Golgi lumen", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q8NEW0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N5P1-1", "uniprot_id": "ZC3H8_HUMAN", "mass": 33576.0, "length": 291, "protein_name": "Zinc finger CCCH domain-containing protein 8", "gene_name": "ZC3H8", "organism": "Human", "refseq_name": "zinc finger CCCH domain-containing protein 8", "refseq_ac": "NP_115883", "gene_names_uniprotkb": "ZC3H8; ZC3HDC8", "gene_names_refseq": "Fliz1; ZC3H8; ZC3HDC8", "protein_names_uniprotkb": "Zinc finger CCCH domain-containing protein 8", "protein_names_refseq": "zinc finger CCCH domain-containing protein 8; zinc finger CCCH-type domain containing 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:84524); (R-HSA-6807505)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10022900;11856838;12077251;12153508;12414730;12574128;14701755;1535687;16239144;16308568;16901896;1739980;17525332;18077418;18079403;1829677;18452278;18669648;19413330;19667075;19690332;20068231;20457598;2125285;22137580;22231121;22252320;22441827;23166507;23186163;23301498;23932780;24097444;24270878;24714562;24997600;25576301;25675981;26728094;27862975;28832583;28904123;29242379;2944599;29508533;29786170;30429286;30833945;31154438;31217245;31222486;31844290;31848261;32161166;32387766;32502341;32938616;33691108;33717175;33936100;34171305;34561969;35051231;35580925;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "class_list": "", "function": "Acts as a transcriptional repressor of the GATA3 promoter. Sequence-specific DNA-binding factor that binds to the 5'-AGGTCTC-3' sequence within the negative cis-acting element intronic regulatory region (IRR) of the GATA3 gene (By similarity). Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:23932780). Induces thymocyte apoptosis when overexpressed, which may indicate a role in regulation of thymocyte homeostasis., [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": 10, "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": "Q9BZ75", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0001162 RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0008023 transcription elongation factor complex;GO:0016604 nuclear body;GO:0000785 chromatin", "go_biological_process": "GO:0032785 negative regulation of DNA-templated transcription, elongation;GO:1905382 positive regulation of snRNA transcription by RNA polymerase II;GO:0006915 apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0070245 positive regulation of thymocyte apoptotic process", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q8N5P1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86W11-1", "uniprot_id": "ZSC30_HUMAN", "mass": 56364.0, "length": 494, "protein_name": "Zinc finger and SCAN domain-containing protein 30", "gene_name": "ZSCAN30", "organism": "Human", "refseq_name": "zinc finger and SCAN domain-containing protein 30 isoform 1", "refseq_ac": "NP_001106205", "gene_names_uniprotkb": "ZSCAN30; ZNF397OS", "gene_names_refseq": "ZNF-WYM; ZNF397OS; ZNF917; ZSCAN30", "protein_names_uniprotkb": "Zinc finger and SCAN domain-containing protein 30; ZNF-WYM; Zinc finger protein 397 opposite strand; Zinc finger protein 397OS", "protein_names_refseq": "ZNF397 opposite strand; zinc finger and SCAN domain-containing protein 30 isoform 1; zinc finger and SCAN domain-containing protein 30; zinc finger protein 397 opposite strand; zinc finger protein 397OS", "tax_id": 9606, "disease": "", "pathway": " (hsa:100101467)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;12801647;29242379;30379171;30429286;32387766;32502341;32938616;33298915;33968037;34509645;35051231", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B4E0N0;Q6ZNB3;Q96PN3", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;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": 1.5, "record_id": "Q86W11-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q05481-1", "uniprot_id": "ZNF91_HUMAN", "mass": 137217.0, "length": 1191, "protein_name": "Zinc finger protein 91", "gene_name": "ZNF91", "organism": "Human", "refseq_name": "zinc finger protein 91 isoform 2", "refseq_ac": "NP_001287880", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "protein_names_uniprotkb": "Zinc finger protein 91; Zinc finger protein HPF7; Zinc finger protein HTF10", "protein_names_refseq": "zinc finger protein 91 (HPF7, HTF10); zinc finger protein 91 isoform 2; zinc finger protein HPF7; zinc finger protein HTF10", "tax_id": 9606, "disease": "", "pathway": " (hsa:7644)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;11470777;16606703;18767875;19240061;2023909;23665872;25274305;25576301;26992070;28228285;28411811;28832583;29242379;29557506;29786170;30429286;31154438;31217245;31844290;32157095;32265295;32387766;33091337;33392160;34185709;34294845;35051231;7479878;8467795", "class_list": "", "function": "Hypoxic exosomal HIF-1alpha-stabilizing circZNF91 promotes chemoresistance of normoxic pancreatic cancer cells via enhancing glycolysis., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The ZNF91 gene encodes a zinc finger protein of the KRAB (Kruppel-associated box) subfamily (Bellefroid et al., 1991, 1993 [PubMed 2023909] [PubMed 8467795]).[supplied by OMIM, May 2010]., [RefSeq]; Transcription factor specifically required to repress SINE-VNTR-Alu (SVA) retrotransposons: recognizes and binds SVA sequences and represses their expression by recruiting a repressive complex containing TRIM28/KAP1 (PubMed:25274305). May also bind the promoter of the FCGR2B gene, leading to repress its expression; however, additional evidence is required to confirm this result in vivo (PubMed:11470777)., [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": 6, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K5E1;B7Z6G6", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000976 transcription cis-regulatory region binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010526 transposable element silencing;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q05481-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IXZ2-1", "uniprot_id": "ZC3H3_HUMAN", "mass": 101941.0, "length": 948, "protein_name": "Zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "organism": "Human", "refseq_name": "zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "protein_names_uniprotkb": "Zinc finger CCCH domain-containing protein 3; Smad-interacting CPSF-like factor", "protein_names_refseq": "smad-interacting CPSF-like factor; zinc finger CCCH domain-containing protein 3; zinc finger CCCH-type domain containing 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:23144); (R-HSA-9930044)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "11237011;17081983;17174896;17412707;17924679;18491316;18669648;18691976;19007248;19364924;19651622;19851296;20068231;20198315;21406692;21705430;21855801;23186163;23481700;24715725;25576301;25578728;26154972;26375851;26992070;27434818;27871484;28228285;28832583;28855257;28904123;29242379;29298432;29393594;29493099;29508533;29557506;29632046;29906447;30379171;30429286;31154438;31217245;31844290;31848261;31950173;31998317;32157095;32161166;32265295;32350084;32387766;32502341;33141586;33298915;33592498;33767452;33912179;33913806;33936100;33968037;33981976;34171305;34211107;35051231;36010968;37875486;38253038", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Required for the export of polyadenylated mRNAs from the nucleus (PubMed:19364924). Enhances ACVR1B-induced SMAD-dependent transcription. Binds to single-stranded DNA but not to double-stranded DNA in vitro. Involved in RNA cleavage (By similarity)., [UniProtKB, UniProtKB, PubMed]; Three additional proteins required for Poly(A) Tail eXosome Targeting (PAXT) function: ZC3H3, RBM26 and RBM27 along with the known PAXT-associated protein, PABPN1, were identified., [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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q14163;Q8N4E2;Q9BUS4", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0070412 R-SMAD binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005847 mRNA cleavage and polyadenylation specificity factor complex", "go_biological_process": "GO:0051028 mRNA transport;GO:0006401 RNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q8IXZ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NUE0-1", "uniprot_id": "ZDH18_HUMAN", "mass": 42031.0, "length": 388, "protein_name": "Palmitoyltransferase ZDHHC18", "gene_name": "ZDHHC18", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC18", "refseq_ac": "NP_115659", "gene_names_uniprotkb": "ZDHHC18", "gene_names_refseq": "DHHC-18; DHHC18; ZDHHC18", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC18; 2.3.1.225; DHHC domain-containing cysteine-rich protein 18; DHHC-18; Zinc finger DHHC domain-containing protein 18", "protein_names_refseq": "DHHC domain-containing cysteine-rich protein 18; palmitoyltransferase ZDHHC18; zinc finger DHHC domain-containing protein 18; zinc finger DHHC-type containing 18; zinc finger DHHC-type palmitoyltransferase 18; zinc finger, DHHC domain containing 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:84243)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;16647879;19413330;19664994;20058876;23034182;23186163;23328677;26375851;27481942;28218747;28228285;28832583;29242379;29437277;29493099;29557506;29789417;30315122;30410026;30626607;31154438;31844290;31998317;32157095;32350084;32983136;33633747;33912179;34433824;35154160;35438208;35561310;36581221;37938771", "class_list": "", "function": "Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates, such as CGAS, HRAS and LCK (PubMed:23034182, PubMed:27481942, PubMed:35438208). Acts as a negative regulator of the cGAS-STING pathway be mediating palmitoylation and inactivation of CGAS (PubMed:35438208). May also have a palmitoyltransferase activity toward the beta-2 adrenergic receptor/ADRB2 and therefore regulate G protein-coupled receptor signaling (PubMed:27481942)., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "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": "A6NHY9;B4DQ84;Q5JYH0;Q9H020", "ec_number_list": "2.3.1.225;6.3.1.2;2.3.1.-", "go_molecular_function": "GO:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0016409 palmitoyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0045087 innate immune response;GO:0006612 protein targeting to membrane;GO:0045824 negative regulation of innate immune response;GO:0018230 peptidyl-L-cysteine S-palmitoylation;GO:0160049 negative regulation of cGAS/STING signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9NUE0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5W0Z9-1", "uniprot_id": "ZDH20_HUMAN", "mass": 42278.0, "length": 365, "protein_name": "Palmitoyltransferase ZDHHC20", "gene_name": "ZDHHC20", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "refseq_ac": "NP_001273567", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC20; 2.3.1.-; 2.3.1.225; Acyltransferase ZDHHC20; DHHC domain-containing cysteine-rich protein 20; DHHC20; Zinc finger DHHC domain-containing protein 20", "protein_names_refseq": "DHHC domain-containing cysteine-rich protein 20; acyltransferase ZDHHC20; palmitoyltransferase ZDHHC20 isoform 2; probable palmitoyltransferase ZDHHC20; zinc finger DHHC domain-containing protein 20; zinc finger DHHC-type containing 20; zinc finger DHHC-type palmitoyltransferase 20", "tax_id": 9606, "disease": "syndrome (Disease Ontology:DOID:225)", "pathway": " (hsa:253832); (R-HSA-9694548)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "11237011;17525332;20334580;22915798;23186163;27153536;28467828;29242379;29314611;29326245;29557506;29632711;31844290;32350084;32363391;32366695;32518941;32676595;32983136;33219126;33298915;33310888;33592498;33912179;33936100;33968037;34117209;34357683;34428449;34528721;34599882;34913437;34961524;35051231;35140179;35154160;35580925;36215666;38733589;38821916;41109928;7986008", "class_list": "", "function": "(Microbial infection) Dominant palmitoyltransferase responsible for lipidation of SARS coronavirus-2/SARS-CoV-2 spike protein. Through a sequential action with ZDHHC9, rapidly and efficiently palmitoylates spike protein following its synthesis in the endoplasmic reticulum (ER). In the infected cell, promotes spike biogenesis by protecting it from premature ER degradation, increases half-life and controls the lipid organization of its immediate membrane environment. Once the virus has formed, spike palmitoylation controls fusion with the target cell., [UniProtKB, PubMed]; Bivalent recognition of fatty acyl-CoA by a human integral membrane palmitoyltransferase., [RefSeq, PubMed]; DHHC20 is a human N-terminal-myristoyl-directed palmitoyl acyltransferase involved in cellular transformation, that may play a role in cancer., [RefSeq, PubMed]; Palmitoyl transferase ZDHHC20 promotes pancreatic cancer metastasis., [RefSeq, PubMed]; Palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates (PubMed:27153536, PubMed:29326245, PubMed:33219126). Catalyzes palmitoylation of Cys residues in the cytoplasmic C-terminus of EGFR, and modulates the duration of EGFR signaling by modulating palmitoylation-dependent EGFR internalization and degradation (PubMed:27153536). Has a preference for acyl-CoA with C16 fatty acid chains (PubMed:29326245). Can also utilize acyl-CoA with C14 and C18 fatty acid chains (PubMed:29326245). May palmitoylate CALHM1 subunit of gustatory voltage-gated ion channels and modulate channel gating and kinetics. Palmitoylates TRIM28 and thereby plays an important role in the DNA damage repair response (PubMed:41109928)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; S-acylation by ZDHHC20 targets ORAI1 channels to lipid rafts for efficient Ca(2+) signaling by Jurkat T cell receptors at the immune synapse. Publication Status: Online-Only, [RefSeq, PubMed]; ZDHHC20-mediated S-palmitoylation of YTHDF3 stabilizes MYC mRNA to promote pancreatic cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 15, "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": "A8MTV9;C9JG20;I6L9D4;Q2TB82;Q6NVU8", "ec_number_list": "2.3.1.225;6.3.1.2;2.3.1.-", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0016409 palmitoyltransferase activity;GO:0019705 protein-cysteine S-myristoyltransferase activity;GO:0140439 protein-cysteine S-stearoyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0006612 protein targeting to membrane;GO:0006974 DNA damage response;GO:0044794 host-mediated activation of viral process;GO:0018345 protein palmitoylation;GO:0018230 peptidyl-L-cysteine S-palmitoylation", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q5W0Z9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A7E2V4-1", "uniprot_id": "ZSWM8_HUMAN", "mass": 197297.0, "length": 1837, "protein_name": "Zinc finger SWIM domain-containing protein 8", "gene_name": "ZSWIM8", "organism": "Human", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "refseq_ac": "NP_001229416", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "protein_names_uniprotkb": "Zinc finger SWIM domain-containing protein 8", "protein_names_refseq": "Dorado; Pelado; zinc finger SWIM domain-containing protein 8 isoform 2; zinc finger SWIM domain-containing protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:23053); (R-HSA-9010553)", "pathway_count": 2, "publication_count": 84, "publication_id_list": "10.1101/2023.09.13.557529;11237011;19706539;20068231;22299025;23186163;23217742;23481700;23746841;24012004;24275569;24714562;24715725;25242263;25576301;25645385;25892735;26154972;26375851;26811146;26992070;27600516;27862975;27920218;28228285;28514659;28649982;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30379171;30429286;30484775;30779550;30833945;31154438;31217245;31324691;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32938616;32983136;33184234;33184237;33298915;33592498;33633747;33717175;33912179;33968037;33981976;34019948;34171305;34357683;34686700;34932366;35051231;35318648;35580925;35705054;35940847;35989311;36010968;36241641;36284347;38665916;39145933;39894887", "class_list": "", "function": "(Microbial infection) Participates in Zika virus inhibition of IFN signaling by acting as a scaffold protein to connect ZSWIM8/CUL3 ligase complex and STAT2, leading to STAT2 degradation., [UniProtKB, PubMed]; A ubiquitin ligase mediates target-directed microRNA decay independently of tailing and trimming., [RefSeq, PubMed]; Substrate recognition component of a SCF-like E3 ubiquitin-protein ligase complex that promotes target-directed microRNA degradation (TDMD), a process that mediates degradation of microRNAs (miRNAs) (PubMed:33184234, PubMed:33184237). The SCF-like E3 ubiquitin-protein ligase complex acts by catalyzing ubiquitination and subsequent degradation of AGO proteins (AGO1, AGO2, AGO3 and/or AGO4), thereby exposing miRNAs for degradation (PubMed:33184234, PubMed:33184237). Specifically recognizes and binds AGO proteins when they are engaged with a TDMD target (PubMed:33184234). May also act as a regulator of axon guidance: specifically recognizes misfolded ROBO3 and promotes its ubiquitination and subsequent degradation (PubMed:24012004). Plays an essential role for proper embryonic development of heart and lung (By similarity). Controls protein quality of DAB1, a key signal molecule for brain development, thus protecting its signaling strength. Mechanistically, recognizes intrinsically disordered regions of DAB1 and eliminates misfolded DAB1 that cannot be properly phosphorylated (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The ZSWIM8 ubiquitin ligase mediates target-directed microRNA degradation., [RefSeq, PubMed]; The conserved Pelado/ZSWIM8 protein regulates actin dynamics by promoting linear actin filament polymerization. Publication Status: Online-Only, [RefSeq, PubMed]; ZSWIM8 is a myogenic protein that partly prevents C2C12 differentiation. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 0, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "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": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2RP37;O94987;Q17RS8;Q2TAB8;Q6P439;Q8IW81;Q8NB34;Q9H8F3", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0031462 Cul2-RING ubiquitin ligase complex;GO:0031463 Cul3-RING ubiquitin ligase complex;GO:0031461 cullin-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:2000627 positive regulation of miRNA catabolic process;GO:0006515 protein quality control for misfolded or incompletely synthesized proteins;GO:0140958 target-directed miRNA degradation", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "A7E2V4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6XR72-4", "uniprot_id": "ZNT10_HUMAN", "mass": 52684.0, "length": 485, "protein_name": "Calcium/manganese antiporter SLC30A10", "gene_name": "SLC30A10", "organism": "Human", "refseq_name": "calcium/manganese antiporter SLC30A10 isoform 1", "refseq_ac": "NP_061183", "gene_names_uniprotkb": "SLC30A10; ZNT10; ZNT8", "gene_names_refseq": "HMDPC; HMNDYT1; SLC30A10; ZNT10; ZNT8; ZRC1; ZnT-10", "protein_names_uniprotkb": "Calcium/manganese antiporter SLC30A10; Solute carrier family 30 member 10; Zinc transporter 10; ZnT-10", "protein_names_refseq": "calcium/manganese antiporter SLC30A10 isoform 1; calcium/manganese antiporter SLC30A10; manganese transporter SLC30A10; zinc resistance conferring homolog; zinc transporter 8", "tax_id": 9606, "disease": "hypermanganesemia with dystonia (Disease Ontology:DOID:0080535); hypermanganesemia with dystonia 1 (Disease Ontology:DOID:0080536)", "pathway": " (hsa:55532); (R-HSA-425410)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10625641;11734551;15154973;15692071;15804357;16984228;17211682;17486601;19021540;19064571;19452451;22341971;22341972;22427991;22706290;25319704;25582195;26728129;27226609;27307044;28228285;29557506;30755481;31844290;36414535;38384053;9207117", "class_list": "", "function": "Calcium:manganese antiporter of the plasma membrane mediating the efflux of intracellular manganese coupled to an active extracellular calcium exchange (PubMed:30755481). Required for intracellular manganese homeostasis, an essential cation for the function of several enzymes, including some crucially important for the metabolism of neurotransmitters and other neuronal metabolic pathways. Manganese can also be cytotoxic and induce oxidative stress, mitochondrial dysfunction and apoptosis (PubMed:22341972, PubMed:25319704, PubMed:26728129, PubMed:27226609, PubMed:27307044). Could also have an intracellular zinc ion transporter activity, directly regulating intracellular zinc ion homeostasis and more indirectly various signaling pathway and biological processes (PubMed:22427991, PubMed:26728129)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Cell-free SLC30A10 messenger ribonucleic acid (mRNA) expression and their association with vitamin-D level among non-small cell lung cancer (NSCLC) patients., [RefSeq, PubMed]; Identified the full-length sequences of SLC30A10, extending the SLC30 family to ten members; used an expressed sequence tag (EST) data mining strategy to determine the pattern of ZnT genes expression in tissues Publication Status: Online-Only, [RefSeq, PubMed]; Manganese efflux transporter SLC30A10 missense polymorphism T95I associated with liver injury retains manganese efflux activity., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SLC30A10 mutations cause a treatable recessive disease with pleomorphic phenotype, and provide compelling evidence that SLC30A10 plays a pivotal role in manganese transport., [RefSeq, PubMed]; This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]., [RefSeq]; This work has confirmed that SLC30A10 functions as a Mn transporter in humans that, when defective, causes Mn accumulation in liver and brain. Erratum:[Am J Hum Genet. 2016 Aug 4;99(2):521. doi: 10.1016/j.ajhg.2016.07.015. PMID: 27486784], [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": 18, "reported_glycation": 0, "reported_snv": 12, "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": "Q49AL9;Q9NPW0", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0005384 manganese ion transmembrane transporter activity;GO:0140983 calcium:manganese antiporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0010312 detoxification of zinc ion;GO:1904385 cellular response to angiotensin;GO:0071577 zinc ion transmembrane transport;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0007173 epidermal growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q6XR72-4", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96AP4-1", "uniprot_id": "ZUP1_HUMAN", "mass": 65959.0, "length": 578, "protein_name": "Zinc finger-containing ubiquitin peptidase 1", "gene_name": "ZUP1", "organism": "Human", "refseq_name": "zinc finger-containing ubiquitin peptidase 1 isoform 1", "refseq_ac": "NP_659499", "gene_names_uniprotkb": "ZUP1; C6orf113; ZUFSP", "gene_names_refseq": "C6orf113; DUB; ZUFSP; ZUP1", "protein_names_uniprotkb": "Zinc finger-containing ubiquitin peptidase 1; 3.4.19.12; DUB; Lys-63-specific deubiquitinase ZUFSP; Zinc finger with UFM1-specific peptidase domain protein", "protein_names_refseq": "lys-63-specific deubiquitinase ZUFSP; ubiquitin carboxyl-terminal hydrolase ZUFSP; zinc finger with UFM1-specific peptidase domain protein; zinc finger-containing ubiquitin peptidase 1 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:221302)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;19608861;22645359;23481700;24714562;25645385;26728094;26992070;28904123;29437277;29476094;29493099;29563501;29576527;29576528;30379171;30779550;31530632;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33392160;33512633;33592498;33717175;33912179;33981976;34357683;34405274;34509645;34932366;35051231;35561310", "class_list": "", "function": "Deubiquitinase with endodeubiquitinase activity that specifically interacts with and cleaves 'Lys-63'-linked long polyubiquitin chains. Shows only weak activity against 'Lys-11' and 'Lys-48'-linked chains (PubMed:29476094, PubMed:29563501, PubMed:29576528). Plays an important role in genome stability pathways, functioning to prevent spontaneous DNA damage and also promote cellular survival in response to exogenous DNA damage (PubMed:29576527, PubMed:29576528). Modulates the ubiquitination status of replication protein A (RPA) complex proteins in response to replication stress (PubMed:29563501)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Functional Analysis of Single Nucleotide Polymorphism in ZUFSP Protein and Implication in Pathogenesis., [RefSeq, PubMed]; Identify two ubiquitin binding domains in ZUFSP: a ZHA (ZUFSP helical arm) that binds to the distal ubiquitin and an atypical UBZ domain in ZUFSP that binds to polyubiquitin. Importantly, both domains are essential for ZUFSP to selectively cleave K63-linked polyubiquitin., [RefSeq, PubMed]; This gene encodes a protein containing zinc finger motifs and a cysteine peptidase domain. The encoded protein functions as a K63-specific de-ubiquitinating enzyme that specifically cleaves long K63-linked polyubiquitin chains in the middle of a chain (i.e. 'endo cleavage) rather than by removing the terminal ubiquitin from a chain. This enzyme is thought to be involved in the regulation of DNA repair by cleaving K63-linked ubiquitin chains at repair foci. This protein is related to proteases for the ubiquitin-like modifiers Ufm1 (ubiquitin fold modifier 1) and Atg8/Gabarapl2, but does not have any activity on these modifiers. [provided by RefSeq, Mar 2018]., [RefSeq]; ZUFSP is recruited to and regulates K63-Ub conjugates at genotoxic stress sites, promoting chromosome stability upon replication stress in a manner dependent on its catalytic activity., [RefSeq, PubMed]; ZUFSP,the singular human member of this family, which contains multiple ubiquitin-binding domains responsible for the specific action on K63-linked chains. GeneRIF: ZUFSP (ZUP1) is a K63-specific deubiquitinating enzyme that is distantly related to proteases for the ubiquitin-like modifiers Ufm1 and Atg8. ZUFSP does not have any activity on these modifiers. ZUFSP specifically cleaves long K63-linked poly-ubiquitin chains in an ''endo'' mode, i.e. cleavage takes place in the middle of a chain rather than by removing the terminal ubiquitin from a chain. 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": 9, "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": "Q5TD92;Q6PJH7;Q96NV6", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q96AP4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TAD4-1", "uniprot_id": "ZNT5_HUMAN", "mass": 84047.0, "length": 765, "protein_name": "Proton-coupled zinc antiporter SLC30A5", "gene_name": "SLC30A5", "organism": "Human", "refseq_name": "proton-coupled zinc antiporter SLC30A5 isoform 3", "refseq_ac": "NP_001238898", "gene_names_uniprotkb": "SLC30A5; PRO1879; ZNT5; ZNTL1; ZTL1", "gene_names_refseq": "SLC30A5; ZNT5; ZNTL1; ZTL1; ZnT-5", "protein_names_uniprotkb": "Proton-coupled zinc antiporter SLC30A5; Solute carrier family 30 member 5; Zinc transporter 5; ZnT-5; ZnT-like transporter 1; hZTL1", "protein_names_refseq": "proton-coupled zinc antiporter SLC30A5 isoform 3; proton-coupled zinc antiporter SLC30A5; solute carrier family 30 (zinc transporter), member 5; zinc transporter ZTL1; znT-like transporter 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:64924); (R-HSA-264876); (R-HSA-435368)", "pathway_count": 3, "publication_count": 101, "publication_id_list": "10521251;11237011;11462236;11493706;11707400;11904301;11937503;12095919;12975309;14617756;14704853;15276077;1528899;15331542;15525635;15878854;15994300;16158220;16158222;16407158;16636052;16714477;16984975;17355957;18691976;19366695;19521526;19759014;20068231;20308425;21091435;21145486;21308844;21713314;21887337;22529353;24715725;25091901;25418920;25582195;25880248;26154972;2669954;26811146;26992070;27920218;28218747;2822027;28228285;28514659;28832583;28904123;29242379;29393594;29437277;29557506;29632046;29769354;30379171;30429286;30779550;30893306;31154438;31184304;31222486;31471319;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32723473;32938616;32983136;33141586;33298915;33485965;33547425;33592498;33691108;33981976;34211107;34357683;34932366;35051231;35525268;35561310;36010968;36241641;37938771;38665916;3896518;7626024;8617223;8916141;8962159;9166668;9207799;9631292", "class_list": "", "function": "A novel zinc-regulated human zinc transporter, hZTL1, is localized to the enterocyte apical membrane, [RefSeq, PubMed]; Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy. Erratum:[Eur J Hum Genet. 2021 May;29(5):887. doi: 10.1038/s41431-021-00843-8. PMID: 33750920], [RefSeq, PubMed]; Cloning and characterization of ZnT-5 which is expressed in pancreatic beta cells, [RefSeq, PubMed]; Functions as a zinc transporter., [UniProtKB, UniProtKB]; This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded protein plays a role in the early secretory pathway as a heterodimer with zinc transporter 6, and may also regulate zinc sequestration into secretory granules of pancreatic beta cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Oct 2011]., [RefSeq]; Together with SLC30A6 forms a functional proton-coupled zinc ion antiporter mediating zinc entry into the lumen of organelles along the secretory pathway (PubMed:11904301, PubMed:15525635, PubMed:15994300, PubMed:19366695, PubMed:22529353). By contributing to zinc ion homeostasis within the early secretory pathway, regulates the activation and folding of enzymes like alkaline phosphatases and enzymes involved in phosphatidylinositol glycan anchor biosynthesis (PubMed:15525635, PubMed:15994300, PubMed:16636052, PubMed:35525268). Through the transport of zinc into secretory granules of pancreatic beta-cells, plays an important role in the storage and secretion of insulin (PubMed:11904301)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Zinc ion:proton antiporter mediating influx and efflux of zinc at the plasma membrane., [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": 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": 4, "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": "B7ZM89;Q6UX54;Q7L4M4;Q8TDG3;Q9BVY8;Q9H9H1", "ec_number_list": "", "go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0046872 metal ion binding;GO:0015297 antiporter activity;GO:0022883 zinc efflux transmembrane transporter activity;GO:0140826 zinc:proton antiporter activity", "go_cellular_component": "GO:1990674 Golgi cis cisterna membrane;GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0071577 zinc ion transmembrane transport;GO:0006829 zinc ion transport;GO:0010043 response to zinc ion;GO:0006882 intracellular zinc ion homeostasis;GO:0071578 zinc ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q8TAD4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9ULC8-1", "uniprot_id": "ZDHC8_HUMAN", "mass": 81443.0, "length": 765, "protein_name": "Palmitoyltransferase ZDHHC8", "gene_name": "ZDHHC8", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC8 isoform 1", "refseq_ac": "NP_001171953", "gene_names_uniprotkb": "ZDHHC8; KIAA1292; ZDHHCL1; ZNF378", "gene_names_refseq": "DHHC8; ZDHHC8; ZDHHCL1; ZNF378", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC8; 2.3.1.225; DHHC-8; Zinc finger DHHC domain-containing protein 8; Zinc finger protein 378", "protein_names_refseq": "membrane-associated DHHC8 zinc finger protein; palmitoyltransferase ZDHHC8 isoform 1; palmitoyltransferase ZDHHC8; zinc finger DHHC-type containing 8; zinc finger DHHC-type palmitoyltransferase 8; zinc finger protein 378; zinc finger, DHHC domain like containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:29801); (R-HSA-8963896); (R-HSA-9694548)", "pathway_count": 3, "publication_count": 65, "publication_id_list": "10.1074/mcp.M114.046862;11237011;12196520;15184899;15280376;15489219;15631889;15992527;16150541;16548525;16647879;17071617;17478755;17580958;17604270;18088087;18220336;18477386;19556522;19664994;22915798;23034182;23186163;23481700;24715725;25813380;26154972;26535572;27846572;27920218;28228285;28467828;28562378;28832583;29242379;29632046;29632711;31844290;32161166;32350084;32363391;32366695;32502341;32518941;32676595;32938616;33141586;33298915;33310888;33592498;33936100;33968037;33981976;34117209;34211107;34428449;34433824;34528721;34599882;34961524;35051231;35251023;36215666;38211651;7986008", "class_list": "", "function": "(Microbial infection) Able to palmitoylate SARS coronavirus-2/SARS-CoV-2 spike protein following its synthesis in the endoplasmic reticulum (ER). In the infected cell, promotes spike biogenesis by protecting it from premature ER degradation, increases half-life and controls the lipid organization of its immediate membrane environment. Once the virus has formed, spike palmitoylation controls fusion with the target cell., [UniProtKB, PubMed]; AMPKalpha1-mediated ZDHHC8 phosphorylation promotes the palmitoylation of SLC7A11 to facilitate ferroptosis resistance in glioblastoma., [RefSeq, PubMed]; Because our sample size provided quite high power, ZDHHC8 may not play a major role in Japanese schizophrenia and our results did not support the gender-specific effect of this SNP. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Genotyped three genetic variants within the ZDHHC8 locus and conducted association studies in both population- and family-based samples of the Han Chinese population GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates and therefore functions in several unrelated biological processes (Probable). Through the palmitoylation of ABCA1 regulates the localization of the transporter to the plasma membrane and thereby regulates its function in cholesterol and phospholipid efflux (Probable). Could also pamitoylate the D(2) dopamine receptor DRD2 and regulate its stability and localization to the plasma membrane (Probable). Could also play a role in glutamatergic transmission (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The association between the COMT Val158Met and ZDHHC8 rs175174 single nucleotide polymorphism and the susceptibility to schizophrenia through a case-control study involving a population from the North Region of Brazil, was investigated., [RefSeq, PubMed]; This gene encodes a four transmembrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein may function as a palmitoyltransferase. Defects in this gene may be associated with a susceptibility to schizophrenia. Alternate splicing of this gene results in multiple transcript variants. A pseudogene of this gene is found on chromosome 22.[provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 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": "Q2TGE9;Q6ICL1;Q6ZNF5;Q7Z6L9", "ec_number_list": "7.6.2.1;2.3.1.225;6.3.1.2;2.3.1.-", "go_molecular_function": "GO:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0016409 palmitoyltransferase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0010875 positive regulation of cholesterol efflux;GO:1903078 positive regulation of protein localization to plasma membrane;GO:0034380 high-density lipoprotein particle assembly;GO:0044794 host-mediated activation of viral process;GO:0018230 peptidyl-L-cysteine S-palmitoylation", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q9ULC8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZN79-1", "uniprot_id": "Z705A_HUMAN", "mass": 34734.0, "length": 300, "protein_name": "Zinc finger protein 705A", "gene_name": "ZNF705A", "organism": "Human", "refseq_name": "zinc finger protein 705A", "refseq_ac": "NP_001004328", "gene_names_uniprotkb": "ZNF705A", "gene_names_refseq": "ZNF705A", "protein_names_uniprotkb": "Zinc finger protein 705A", "protein_names_refseq": "zinc finger protein 705A", "tax_id": 9606, "disease": "", "pathway": " (hsa:440077); (R-HSA-212436)", "pathway_count": 2, "publication_count": 15, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;27397612;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "", "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:0003677 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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q6ZN79-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N9Z0-1", "uniprot_id": "ZN610_HUMAN", "mass": 53489.0, "length": 462, "protein_name": "Zinc finger protein 610", "gene_name": "ZNF610", "organism": "Human", "refseq_name": "zinc finger protein 610 isoform a", "refseq_ac": "NP_001154897", "gene_names_uniprotkb": "ZNF610", "gene_names_refseq": "ZNF610", "protein_names_uniprotkb": "Zinc finger protein 610", "protein_names_refseq": "zinc finger protein 610 isoform a; zink finger protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:162963); (R-HSA-212436); (R-HSA-9843940)", "pathway_count": 3, "publication_count": 30, "publication_id_list": "10235266;10330177;11237011;11395415;11959841;12869583;14519192;14536086;15175151;15882967;15896744;16567619;16606702;16719718;16954381;18082607;2028256;2163759;25274305;26813693;28273063;31289231;31427381;32157095;38898665;8183939;8769649;9016654;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Silencing of ZNF610 suppresses cell proliferation and migration in lung adenocarcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K4C3;Q86YH8;Q8NDS9", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q8N9Z0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95049-1", "uniprot_id": "ZO3_HUMAN", "mass": 101397.0, "length": 919, "protein_name": "Tight junction protein ZO-3", "gene_name": "TJP3", "organism": "Human", "refseq_name": "tight junction protein ZO-3 isoform 1", "refseq_ac": "NP_001254489", "gene_names_uniprotkb": "TJP3; ZO3", "gene_names_refseq": "TJP3; ZO-3; ZO3", "protein_names_uniprotkb": "Tight junction protein ZO-3; Tight junction protein 3; Zona occludens protein 3; Zonula occludens protein 3", "protein_names_refseq": "tight junction protein 3 (zona occludens 3); tight junction protein ZO-3 isoform 1; tight junction protein ZO-3; zona occludens protein 3; zonula occludens protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:27134)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;16129888;18669648;18823282;19690332;19807924;20068231;20434232;21406692;21411630;22354024;23186163;23608536;24275569;24314862;25418920;28580691;28904123;29557506;30725225;31844290;32157095;32945443;33633747;33968037;33981976;35051231;35580925;36241641;36284347;37950731", "class_list": "", "function": "Long noncoding RNA NEAT1 promotes ovarian cancer cell invasion and migration by interacting with miR1321 and regulating tight junction protein 3 expression. Erratum:[Mol Med Rep. 2024 Jun;29(6):91. doi: 10.3892/mmr.2024.13215. PMID: 38577942], [RefSeq, PubMed]; TJP1, TJP2, and TJP3 are closely related scaffolding proteins that link tight junction (TJ) transmembrane proteins such as claudins, junctional adhesion molecules, and occludin to the actin cytoskeleton (PubMed:16129888). The tight junction acts to limit movement of substances through the paracellular space and as a boundary between the compositionally distinct apical and basolateral plasma membrane domains of epithelial and endothelial cells. Binds and recruits PATJ to tight junctions where it connects and stabilizes apical and lateral components of tight junctions (PubMed:16129888). Promotes cell-cycle progression through the sequestration of cyclin D1 (CCND1) at tight junctions during mitosis which prevents CCND1 degradation during M-phase and enables S-phase transition (PubMed:21411630). With TJP1 and TJP2, participates in the junctional retention and stability of the transcription factor DBPA, but is not involved in its shuttling to the nucleus (By similarity). Contrary to TJP2, TJP3 is dispensable for individual viability, embryonic development, epithelial differentiation, and the establishment of TJs, at least in the laboratory environment (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed]; TJP3 promotes T cell immunity escape and chemoresistance in breast cancer: a comprehensive analysis of anoikis-based prognosis prediction and drug sensitivity stratification., [RefSeq, PubMed]; The protein encoded by this gene is a member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain, and a single guanylate kinase-like (GUK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arginine-rich region, and a proline-rich domain. The protein encoded by this gene plays a role in the linkage between the actin cytoskeleton and tight-junctions and also sequesters cyclin D1 at tight junctions during mitosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene has a partial pseudogene on chromosome 1. [provided by RefSeq, May 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A6NFP3;B3KR73;B3KXZ0;B4E2W6;F5H2X0;F5H4S9;K7EK22;Q32N01", "ec_number_list": "", "go_molecular_function": "GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0030054 cell junction", "go_biological_process": "GO:0150105 protein localization to cell-cell junction;GO:0098609 cell-cell adhesion;GO:0090557 establishment of endothelial intestinal barrier;GO:0045216 cell-cell junction organization;GO:0035633 maintenance of blood-brain barrier", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "O95049-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96ND8-1", "uniprot_id": "ZN583_HUMAN", "mass": 66033.0, "length": 569, "protein_name": "Zinc finger protein 583", "gene_name": "ZNF583", "organism": "Human", "refseq_name": "zinc finger protein 583", "refseq_ac": "NP_001153332", "gene_names_uniprotkb": "ZNF583", "gene_names_refseq": "ZNF583", "protein_names_uniprotkb": "Zinc finger protein 583; Zinc finger protein L3-5", "protein_names_refseq": "zinc finger protein 583; zinc finger protein L3-5", "tax_id": 9606, "disease": "", "pathway": " (hsa:147949); (R-HSA-212436)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;23301498;25576301;26375851;26992070;27600516;28832583;30429286;32157095;32938616;34185709;35580925;36010968;36284347;37938771;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O14850;Q2NKK3", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q96ND8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MWA4-1", "uniprot_id": "Z705E_HUMAN", "mass": 34697.0, "length": 300, "protein_name": "Putative zinc finger protein 705EP", "gene_name": "ZNF705EP", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ZNF705EP; ZNF705E", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative zinc finger protein 705EP; zinc finger protein 705E pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-212436)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;29557506;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A0A1W2PRR0", "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": 1.5, "record_id": "A8MWA4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86UK7-1", "uniprot_id": "ZN598_HUMAN", "mass": 98637.0, "length": 904, "protein_name": "E3 ubiquitin-protein ligase ZNF598", "gene_name": "ZNF598", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase ZNF598 isoform 1", "refseq_ac": "NP_835461", "gene_names_uniprotkb": "ZNF598", "gene_names_refseq": "HEL2; ZNF598", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase ZNF598; 2.3.2.27; Zinc finger protein 598", "protein_names_refseq": "E3 ubiquitin-protein ligase ZNF598 isoform 1; E3 ubiquitin-protein ligase ZNF598; Histone E3 Ligase 2 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:90850); (R-HSA-9954716)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "11237011;15592455;18669648;22751931;24366607;24715725;25576301;25880248;26154972;26992070;28065601;28132843;28228285;28510447;28685749;28757607;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29719242;30293783;30315122;31530632;31844290;31998317;32099016;32119511;32157095;32161166;32350084;32357974;32488085;32502341;32579943;32726578;32897882;32938616;32983136;33141586;33298915;33392160;33581075;33592498;33633747;33936100;33968037;33981976;34019948;34171305;34185709;34211107;34357683;34551427;34561969;34725712;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36302773;37938771;38665916;41819311", "class_list": "", "function": "(Microbial infection) Acts as a positive regulator of HIV-1 Tat stability independently of its E3 ubiquitin ligase activity, and reduces the 'Lys-48'-linked ubiquitination and prevents the proteasomal degradation of Tat. In turn, promotes HIV-1 replication and latent reactivation., [UniProtKB, PubMed]; (Microbial infection) Required for poxvirus protein synthesis by mediating ubiquitination of RPS10/eS10 and RPS20/uS10 (PubMed:29719242). Poxvirus encoding mRNAs contain unusual 5' poly(A) leaders and ZNF598 is required for their translational efficiency, possibly via its ability to suppress readthrough or sliding on shorter poly(A) tracts (PubMed:29719242)., [UniProtKB, PubMed]; A distinct mammalian disome collision interface harbors K63-linked polyubiquitination of uS10 to trigger hRQT-mediated subunit dissociation. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin-protein ligase that plays a key role in the ribosome quality control (RQC), a pathway that takes place when a ribosome has stalled during translation, leading to degradation of nascent peptide chains (PubMed:28065601, PubMed:28132843, PubMed:28685749, PubMed:32099016, PubMed:32579943, PubMed:33581075). ZNF598 is activated when ribosomes are stalled within an mRNA following translation of prematurely polyadenylated mRNAs (PubMed:28065601, PubMed:28132843, PubMed:28685749). Acts as a ribosome collision sensor: specifically recognizes and binds collided di-ribosome, which arises when a trailing ribosome encounters a slower leading ribosome, leading to terminally arrest translation (PubMed:28065601, PubMed:28132843, PubMed:28685749, PubMed:30293783). Following binding to colliding ribosomes, mediates monoubiquitination of 40S ribosomal proteins RPS10/eS10 and RPS3/uS3, and 'Lys-63'-linked polyubiquitination of RPS20/uS10 (PubMed:28065601, PubMed:28132843, PubMed:28685749). Polyubiquitination of RPS20/uS10 promotes recruitment of the RQT (ribosome quality control trigger) complex, which drives the disassembly of stalled ribosomes, followed by degradation of nascent peptides (PubMed:32099016, PubMed:32579943, PubMed:36302773). E3 ubiquitin-protein ligase activity is dependent on the E2 ubiquitin-conjugating enzyme UBE2D3 (PubMed:28685749). Also acts as an adapter that recruits the 4EHP-GYF2 complex to mRNAs (PubMed:22751931, PubMed:32726578). Independently of its role in RQC, may also act as a negative regulator of interferon-stimulated gene (ISG) expression (PubMed:29719242)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; ZNF598 co-translationally titrates poly(GR) protein implicated in the pathogenesis of C9ORF72-associated ALS/FTD., [RefSeq, PubMed]; Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This protein and Grb10-interacting GYF protein 2 have been identified as a components of the mammalian 4EHP (m4EHP) complex. The complex is thought to function as a translation repressor in embryonic development. [provided by RefSeq, Oct 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q8IW49;Q8N3D9;Q96FG3;Q9H7J3", "ec_number_list": "4.2.99.18;2.3.2.24;2.3.2.23;2.3.2.27", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0043022 ribosome binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0022626 cytosolic ribosome;GO:0005737 cytoplasm", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0016567 protein ubiquitination;GO:0045947 negative regulation of translational initiation;GO:0070534 protein K63-linked ubiquitination;GO:1990261 pre-mRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q86UK7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N2I2-1", "uniprot_id": "ZN619_HUMAN", "mass": 63322.0, "length": 560, "protein_name": "Zinc finger protein 619", "gene_name": "ZNF619", "organism": "Human", "refseq_name": "zinc finger protein 619 isoform 1", "refseq_ac": "NP_001138554", "gene_names_uniprotkb": "ZNF619", "gene_names_refseq": "ZNF619", "protein_names_uniprotkb": "Zinc finger protein 619", "protein_names_refseq": "zinc finger protein 619 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:285267); (R-HSA-212436)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;23481700;24714562;25576301;25645385;26375851;26728094;26992070;27600516;27846572;28228285;28832583;28834231;28904123;29242379;29508533;29557506;29632711;29789417;31154438;31217245;31844290;31848261;31998317;32387766;33592498;36284347;37938771;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B4E271;C9JRN5;D4PHA2;E9PCD9", "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;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q8N2I2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NAF0-1", "uniprot_id": "ZN579_HUMAN", "mass": 60509.0, "length": 562, "protein_name": "Zinc finger protein 579", "gene_name": "ZNF579", "organism": "Human", "refseq_name": "zinc finger protein 579", "refseq_ac": "NP_689813", "gene_names_uniprotkb": "ZNF579", "gene_names_refseq": "ZNF579", "protein_names_uniprotkb": "Zinc finger protein 579", "protein_names_refseq": "zinc finger protein 579", "tax_id": 9606, "disease": "", "pathway": " (hsa:163033)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;15302935;16964243;18452278;18991276;19664994;20068231;21406692;23186163;24129315;24714562;25576301;26992070;27862975;28904123;29493099;29557506;30429286;30484775;31154438;31844290;32488085;32502341;32897882;32938616;32983136;33298915;33537174;33717175;33968037;34171305;34932366;35051231;35580925;36241641;36284347", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region 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": 3.7, "record_id": "Q8NAF0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86YH2-1", "uniprot_id": "Z280B_HUMAN", "mass": 61525.0, "length": 543, "protein_name": "Zinc finger protein 280B", "gene_name": "ZNF280B", "organism": "Human", "refseq_name": "zinc finger protein 280B", "refseq_ac": "NP_542942", "gene_names_uniprotkb": "ZNF280B; SUHW2; ZNF279; ZNF632", "gene_names_refseq": "5'OY11.1; D87009.C22.3; SUHW2; ZNF279; ZNF280B; ZNF632", "protein_names_uniprotkb": "Zinc finger protein 280B; 5'OY11.1; Suppressor of hairy wing homolog 2; Zinc finger protein 279; Zinc finger protein 632", "protein_names_refseq": "suppressor of hairy wing homolog 2; zinc finger protein 279; zinc finger protein 280B; zinc finger protein 632", "tax_id": 9606, "disease": "", "pathway": " (hsa:140883)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;18477386;23186163;23481700;24236047;27600516;29242379;29485866;30524438;9074928", "class_list": "", "function": "May function as a transcription factor., [UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a transcription factor that upregulates expression of MDM2, which negatively regulates p53 expression. This gene is highly expressed in prostate cancer cells, which leads to a reduction in p53 levels and an increase in growth of the cancer cells. Several transcript variants have been found for this gene, but only one of them is protein-coding. [provided by RefSeq, Jan 2015]., [RefSeq]; ZNF280B upregulates GUCY1A3 expression and downregulates TP53 in prostate cancer cells. 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": 2, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q86YH2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MUZ8-1", "uniprot_id": "Z705G_HUMAN", "mass": 34765.0, "length": 300, "protein_name": "Putative zinc finger protein 705G", "gene_name": "ZNF705G", "organism": "Human", "refseq_name": "putative zinc finger protein 705G", "refseq_ac": "NP_001157929", "gene_names_uniprotkb": "ZNF705G", "gene_names_refseq": "ZNF705G", "protein_names_uniprotkb": "Putative zinc finger protein 705G", "protein_names_refseq": "putative zinc finger protein 705G", "tax_id": 9606, "disease": "", "pathway": " (hsa:100131980); (R-HSA-212436)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;31844290;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [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": "", "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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "A8MUZ8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P59817-1", "uniprot_id": "Z280A_HUMAN", "mass": 60584.0, "length": 542, "protein_name": "Zinc finger protein 280A", "gene_name": "ZNF280A", "organism": "Human", "refseq_name": "zinc finger protein 280A", "refseq_ac": "NP_542778", "gene_names_uniprotkb": "ZNF280A; SUHW1; ZNF280; ZNF636", "gene_names_refseq": "3'OY11.1; SUHW1; ZNF280A; ZNF280; ZNF636", "protein_names_uniprotkb": "Zinc finger protein 280A; 3'OY11.1; Suppressor of hairy wing homolog 1; Zinc finger protein 636", "protein_names_refseq": "suppressor of hairy wing homolog 1; zinc finger protein 280A; zinc finger protein 280; zinc finger protein 636", "tax_id": 9606, "disease": "", "pathway": " (hsa:129025)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "28832583;29242379;31154438;33414445;37345848;9074928", "class_list": "", "function": "Knockdown of ZNF280A inhibits cell proliferation and promotes cell apoptosis of bladder cancer., [RefSeq, PubMed]; May function as a transcription factor., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a zinc finger protein. The encoded protein contains 4 C2H2-type zinc fingers, which are commonly found in transcription factors. A variety of functions may be performed by this type of zinc finger protein, including the binding of DNA or RNA. [provided by RefSeq, Apr 2014]., [RefSeq]; ZNF280A promotes lung adenocarcinoma development by regulating the expression of EIF3C. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "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:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "P59817-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NGD5-1", "uniprot_id": "ZSA5C_HUMAN", "mass": 55729.0, "length": 496, "protein_name": "Zinc finger and SCAN domain-containing protein 5C", "gene_name": "ZSCAN5C", "organism": "Human", "refseq_name": "zinc finger and SCAN domain-containing protein 5C", "refseq_ac": "NP_001345342", "gene_names_uniprotkb": "ZSCAN5C; ZSCAN5CP", "gene_names_refseq": "ZNF495C; ZSCAN5CP; ZSCAN5C", "protein_names_uniprotkb": "Zinc finger and SCAN domain-containing protein 5C; Zinc finger and SCAN domain-containing protein 5C pseudogene", "protein_names_refseq": "putative zinc finger and SCAN domain-containing protein 5C; zinc finger and SCAN domain containing 5C, pseudogene; zinc finger and SCAN domain-containing protein 5-like protein 2; zinc finger and SCAN domain-containing protein 5C pseudogene; zinc finger and SCAN domain-containing protein 5C", "tax_id": 9606, "disease": "", "pathway": " (hsa:649137)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A6NGD5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NM28-1", "uniprot_id": "ZFP92_HUMAN", "mass": 45791.0, "length": 416, "protein_name": "Zinc finger protein 92 homolog", "gene_name": "ZFP92", "organism": "Human", "refseq_name": "zinc finger protein 92 homolog isoform 1", "refseq_ac": "NP_001129745", "gene_names_uniprotkb": "ZFP92", "gene_names_refseq": "ZFP92; ZNF897", "protein_names_uniprotkb": "Zinc finger protein 92 homolog; Zfp-92", "protein_names_refseq": "zinc finger protein 92 homolog isoform 1; zinc finger protein 92 homolog; zinc finger protein homologous to Zfp92 in mouse", "tax_id": 9606, "disease": "", "pathway": " (hsa:139735)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "28228285;29557506;30429286;31844290;35251023", "class_list": "", "function": "KRAB domain-containing zinc-finger protein that represses B1/Alu SINE transposable elements and modulates the transcription of nearby genes in a tissue-specific manner. It regulates glucose homeostasis and lipid metabolism by modulating the expression of the endocrine cell-defining transcription factor, MAFB, in pancreatic islets and, the fat metabolism regulator, ACACB, in adipose tissue and muscle., [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": "", "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_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:0010906 regulation of glucose metabolic process;GO:0019216 regulation of lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A6NM28-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MU10-1", "uniprot_id": "YQ047_HUMAN", "mass": 10262.0, "length": 97, "protein_name": "Putative uncharacterized protein ENSP00000381562", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein ENSP00000381562", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "10737800;24715725", "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": "A8MU10-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MZ25-1", "uniprot_id": "YQ037_HUMAN", "mass": 18125.0, "length": 164, "protein_name": "Putative uncharacterized protein FLJ38767", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FLJ38767", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A8MZ25-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NPG8-1", "uniprot_id": "ZDHC4_HUMAN", "mass": 39787.0, "length": 344, "protein_name": "Palmitoyltransferase ZDHHC4", "gene_name": "ZDHHC4", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC4 isoform b", "refseq_ac": "NP_001127859", "gene_names_uniprotkb": "ZDHHC4; DC1; PRO19576; ZNF374", "gene_names_refseq": "ZDHHC4; ZNF374", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC4; 2.3.1.225; DHHC-4; Zinc finger DHHC domain-containing protein 4; Zinc finger protein 374", "protein_names_refseq": "DHHC-4; palmitoyltransferase ZDHHC4 isoform b; probable palmitoyltransferase ZDHHC4; zinc finger DHHC domain-containing protein 4; zinc finger DHHC-type containing 4; zinc finger DHHC-type palmitoyltransferase 4; zinc finger protein 374; zinc finger, DHHC domain containing 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:55146)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11230166;11237011;12975309;16959974;21926431;24714562;25576301;26154972;26535572;26811146;26992070;28228285;28834231;29393594;29557506;29632711;29789417;31154438;31844290;31848261;32157095;32161166;32357974;32502341;32938616;32983136;33298915;33592498;33912179;33981976;34171305;34561969;35051231;35580925;35606353;37938771;38016475", "class_list": "", "function": "Palmitoyltransferase that catalyzes the addition of palmitate onto protein substrates including the D(2) dopamine receptor DRD2, GSK3B or MAVS. Mediates GSK3B palmitoylation to prevent its AKT1-mediated phosphorylation leading to activation of the STAT3 signaling pathway (PubMed:35606353). Also catalyzes MAVS palmitoylation which promotes its stabilization and activation by inhibiting 'Lys-48'- but facilitating 'Lys-63'-linked ubiquitination (PubMed:38016475)., [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": 4, "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": "A4D2N9;Q53EV7;Q6FIB5;Q9H0R9", "ec_number_list": "2.3.1.225;6.3.1.2;2.3.1.-", "go_molecular_function": "GO:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0016409 palmitoyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0006612 protein targeting to membrane;GO:0045089 positive regulation of innate immune response", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9NPG8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UK55-1", "uniprot_id": "ZPI_HUMAN", "mass": 50707.0, "length": 444, "protein_name": "Protein Z-dependent protease inhibitor", "gene_name": "SERPINA10", "organism": "Human", "refseq_name": "protein Z-dependent protease inhibitor precursor", "refseq_ac": "NP_001094077", "gene_names_uniprotkb": "SERPINA10; PRO1358; ZPI", "gene_names_refseq": "PZI; SERPINA10; ZPI", "protein_names_uniprotkb": "Protein Z-dependent protease inhibitor; PZ-dependent protease inhibitor; PZI; Serpin A10", "protein_names_refseq": "PZ-dependent protease inhibitor; Protein-Z dependent proteinase inhibitor; protein Z-dependent protease inhibitor precursor; protein Z-dependent protease inhibitor; serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10; serpin A10; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10", "tax_id": 9606, "disease": "small intestine carcinoid neuroendocrine tumor (Disease Ontology:DOID:0050925); thrombophilia (Disease Ontology:DOID:2452)", "pathway": " (hsa:51156); (R-HSA-381426); (R-HSA-8957275); (R-HSA-9769739)", "pathway_count": 4, "publication_count": 124, "publication_id_list": "10026136;10026158;10077652;10218588;10460162;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11035113;11049983;11158056;11237011;11238108;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;11833835;12052963;12241545;12379487;12466191;12810533;12904166;12907439;12975309;1370451;1383255;15126567;15308688;15469690;15485880;15525596;15642270;16161994;1618828;16335952;16619025;17047378;17249697;17312271;17506785;17598008;17635713;17985932;1902833;19159218;19297154;1930190;19528533;19824718;20166139;20187088;20427285;21932952;22144186;22540147;22618708;2271516;22786881;23375655;23683607;2384594;24554904;2476804;2479552;2538457;25713144;25855704;26091039;29391424;29419409;29671580;29741879;30918026;31262782;31439947;31530632;32488085;33427552;34171305;35551912;36951953;37074911;3744129;37726033;3863104;6323392;7499257;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8144529;8639781;8781553;8817670;8894645;8964575;9218519;9459334;9469622;9497324;9689066;9709957;9733769;9786878;9922210", "class_list": "", "function": "Heparin activation of protein Z-dependent protease inhibitor (ZPI) allosterically blocks protein Z activation through an extended heparin-binding site., [RefSeq, PubMed]; Inhibits activity of the coagulation protease factor Xa in the presence of PROZ, calcium and phospholipids. Also inhibits factor XIa in the absence of cofactors., [UniProtKB, PubMed]; Plasma concentration of protein Z-dependent protease inhibitor and ZPI exon 3 mutations in preeclampsia., [RefSeq, PubMed]; The protein encoded by this gene belongs to the serpin family. It is predominantly expressed in the liver and secreted in plasma. It inhibits the activity of coagulation factors Xa and XIa in the presence of protein Z, calcium and phospholipid. Mutations in this gene are associated with venous thrombosis. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "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": 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": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 8577, "biomarker_type": "", "glycan_count": 27, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A5Z2A5;Q6UWX9;Q86U20", "ec_number_list": "", "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0008201 heparin binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007596 blood coagulation", "synthesized_glycan_count": 0, "hit_score": 15.6, "record_id": "Q9UK55-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WTX9-1", "uniprot_id": "ZDHC1_HUMAN", "mass": 54818.0, "length": 485, "protein_name": "Palmitoyltransferase ZDHHC1", "gene_name": "ZDHHC1", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC1 isoform 2", "refseq_ac": "NP_001310556", "gene_names_uniprotkb": "ZDHHC1; C16orf1; ZNF377", "gene_names_refseq": "C16orf1; DHHC-1; HSU90653; ZDHHC1; ZNF377", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC1; 2.3.1.225; DHHC domain-containing cysteine-rich protein 1; DHHC-1; Zinc finger DHHC domain-containing protein 1; Zinc finger protein 377", "protein_names_refseq": "DHHC domain-containing cysteine-rich protein 1; palmitoyltransferase ZDHHC1 isoform 2; probable palmitoyltransferase ZDHHC1; zinc finger DHHC domain-containing protein 1; zinc finger DHHC-type containing 1; zinc finger protein 377; zinc finger, DHHC domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:29800)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10395086;11237011;16647879;20549515;25299331;29242379;30379171;32938616;33392160;33968037;34282274;39069526;39173637;39894887", "class_list": "", "function": "Also has a palmitoyltransferase activity-independent function in DNA virus-triggered and CGAS-mediated innate immune response (PubMed:25299331). Functions as an activator of STING1 by promoting its cGAMP-induced oligomerization and the recruitment of downstream signaling components (PubMed:25299331)., [UniProtKB, PubMed]; Cancer cells escape p53's tumor suppression through ablation of ZDHHC1-mediated p53 palmitoylation., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates, such as NCDN and NLRP3 (PubMed:39173637). Has a palmitoyltransferase activity toward NCDN and regulates NCDN association with endosome membranes through this palmitoylation (By similarity). Acts as an activator of the NLRP3 inflammasome by mediating palmitoylation of 'Cys-130' and 'Cys-958' of NLRP3, thereby promoting NLRP3 phosphorylation and activation by NEK7 (PubMed:39173637)., [UniProtKB, UniProtKB, PubMed]; ZDHHC1 downregulates LIPG and inhibits colorectal cancer growth via IGF2BP1 Palmitoylation., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "O15461", "ec_number_list": "2.3.1.225;6.3.1.2;2.3.1.-", "go_molecular_function": "GO:0003677 DNA binding;GO:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0016409 palmitoyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0006612 protein targeting to membrane;GO:0002230 positive regulation of defense response to virus by host;GO:1900227 positive regulation of NLRP3 inflammasome complex assembly;GO:0140374 antiviral innate immune response;GO:1905668 positive regulation of protein localization to endosome", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q8WTX9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HCL3-1", "uniprot_id": "ZFP14_HUMAN", "mass": 63463.0, "length": 533, "protein_name": "Zinc finger protein 14 homolog", "gene_name": "ZFP14", "organism": "Human", "refseq_name": "zinc finger protein 14 homolog isoform 2", "refseq_ac": "NP_065968", "gene_names_uniprotkb": "ZFP14; KIAA1559; ZNF531", "gene_names_refseq": "ZFP14; ZNF531", "protein_names_uniprotkb": "Zinc finger protein 14 homolog; Zfp-14; Zinc finger protein 531", "protein_names_refseq": "zinc finger protein 14 homolog isoform 2; zinc finger protein 14 homolog; zinc finger protein 531", "tax_id": 9606, "disease": "", "pathway": " (hsa:57677); (R-HSA-212436)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;17322306;2163759;25880248;27846572;28063628;28228285;28832583;29242379;29393594;29493099;29632046;30429286;31844290;32157095;32357974;32983136;33592498;33968037;34171305;34932366;35051231;35561310;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A7MD23", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9HCL3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75467-1", "uniprot_id": "Z324A_HUMAN", "mass": 61104.0, "length": 553, "protein_name": "Zinc finger protein 324A", "gene_name": "ZNF324", "organism": "Human", "refseq_name": "zinc finger protein 324A", "refseq_ac": "NP_055162", "gene_names_uniprotkb": "ZNF324; ZNF324A", "gene_names_refseq": "ZF5128; ZNF324A; ZNF324", "protein_names_uniprotkb": "Zinc finger protein 324A; Zinc finger protein ZF5128", "protein_names_refseq": "zinc finger protein 324A; zinc finger protein ZF5128", "tax_id": 9606, "disease": "", "pathway": " (hsa:25799); (R-HSA-212436); (R-HSA-9843940)", "pathway_count": 3, "publication_count": 46, "publication_id_list": "10235266;10330177;11237011;11395415;11779640;11959841;12869583;14519192;14536086;15175151;15882967;15896744;16567619;16606702;16719718;16954381;17081983;18082607;2028256;2163759;25274305;25880248;26813693;27846572;27862975;28218747;28273063;28904123;29393594;29437277;29493099;31289231;31427381;31530632;31844290;32357974;32387766;32502341;36284347;38279443;39894887;8183939;8769649;9016654;9637681;9653119", "class_list": "", "function": "Biological functions of miRNA-203b-3p/ZNF324 in laryngeal carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in transcriptional regulation. May be involved in regulation of cell proliferation., [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": 1, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KRX1", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008283 cell population proliferation;GO:0000082 G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "O75467-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14863-1", "uniprot_id": "ZNT4_HUMAN", "mass": 47483.0, "length": 429, "protein_name": "Probable proton-coupled zinc antiporter SLC30A4", "gene_name": "SLC30A4", "organism": "Human", "refseq_name": "probable proton-coupled zinc antiporter SLC30A4 isoform 1", "refseq_ac": "NP_037441", "gene_names_uniprotkb": "SLC30A4; ZNT4", "gene_names_refseq": "SLC30A4; ZNT4; znT-4", "protein_names_uniprotkb": "Probable proton-coupled zinc antiporter SLC30A4; Solute carrier family 30 member 4; Zinc transporter 4; ZnT-4", "protein_names_refseq": "probable proton-coupled zinc antiporter SLC30A4 isoform 1; probable proton-coupled zinc antiporter SLC30A4; solute carrier family 30 (zinc transporter), member 4; zinc transporter 4", "tax_id": 9606, "disease": "prostate carcinoma in situ (Disease Ontology:DOID:8634)", "pathway": " (hsa:7782)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11686514;11935329;17349999;19521526;27661418;29557506;33140261;35051231;36010968;36204728;9354792", "class_list": "", "function": "Genomic localization, organization; exclusion in variants of acrodermatitis enteropathica., [RefSeq, PubMed]; Not responsible for acrodermatitis enteropathica in Japanese families, [RefSeq, PubMed]; Probable proton-coupled zinc ion antiporter mediating zinc import from cytoplasm potentially into the endocytic compartment (PubMed:19521526). Controls zinc deposition in milk (By similarity)., [UniProtKB, UniProtKB, PubMed]; The Roles of ZnT1 and ZnT4 in Glucose-Stimulated Zinc Secretion in Prostate Epithelial Cells., [RefSeq, PubMed]; There was a significant increase in protein levels of ZnT4 in the prefrontal cortex in Major depression disorder, relative to control subjects., [RefSeq, PubMed]; Zinc is the second most abundant trace metal in the human body. It is an essential element, serving both a structural role, as in the formation of zinc fingers in DNA-binding proteins, and a catalytic role in metalloenzymes, such as pancreatic carboxypeptidases (e.g., MIM 114852), alkaline phosphatases (e.g., MIM 171760), various dehydrogenases, and superoxide dismutases (e.g., MIM 147450). SLC30A4, or ZNT4, belongs to the ZNT family of zinc transporters. ZNTs are involved in transporting zinc out of the cytoplasm and have similar structures, consisting of 6 transmembrane domains and a histidine-rich cytoplasmic loop (Huang and Gitschier, 1997 [PubMed 9354792]).[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": 3, "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": "Q8TC39", "ec_number_list": "", "go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0046872 metal ion binding;GO:0015297 antiporter activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane;GO:0005770 late endosome", "go_biological_process": "GO:0071577 zinc ion transmembrane transport;GO:0010043 response to zinc ion;GO:0009636 response to toxic substance;GO:0140916 zinc ion import into lysosome", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "O14863-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CG32-1", "uniprot_id": "ZCC18_HUMAN", "mass": 45160.0, "length": 403, "protein_name": "Zinc finger CCHC domain-containing protein 18", "gene_name": "ZCCHC18", "organism": "Human", "refseq_name": "zinc finger CCHC domain-containing protein 18", "refseq_ac": "NP_001137450", "gene_names_uniprotkb": "ZCCHC18", "gene_names_refseq": "PNMA7B; SIZN2; ZCCHC18", "protein_names_uniprotkb": "Zinc finger CCHC domain-containing protein 18", "protein_names_refseq": "paraneoplastic Ma antigen family member 7B; putative zinc finger CCHC domain-containing protein 18; zinc finger CCHC domain-containing protein 18; zinc finger, CCHC domain containing 12 pseudogene 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:644353)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "35051231;37217939", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P0CG32-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CI00-1", "uniprot_id": "Z705B_HUMAN", "mass": 34732.0, "length": 300, "protein_name": "Zinc finger protein 705B", "gene_name": "ZNF705B", "organism": "Human", "refseq_name": "zinc finger protein 705B", "refseq_ac": "NP_001180559", "gene_names_uniprotkb": "ZNF705B", "gene_names_refseq": "ZNF705B", "protein_names_uniprotkb": "Zinc finger protein 705B", "protein_names_refseq": "Putative zinc finger protein 705D-like protein LOC100132396; putative zinc finger protein 705B; zinc finger protein 705B", "tax_id": 9606, "disease": "", "pathway": " (hsa:100132396)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "31154438;36215666", "class_list": "", "function": "May be involved in transcriptional regulation., [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": "A8K971;A8MY01", "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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "P0CI00-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P17098-1", "uniprot_id": "ZNF8_HUMAN", "mass": 64970.0, "length": 575, "protein_name": "Zinc finger protein 8", "gene_name": "ZNF8", "organism": "Human", "refseq_name": "zinc finger protein 8", "refseq_ac": "NP_066575", "gene_names_uniprotkb": "ZNF8", "gene_names_refseq": "HF.18; ZNF8; Zfp128", "protein_names_uniprotkb": "Zinc finger protein 8; Zinc finger protein HF.18", "protein_names_refseq": "zinc finger protein 272; zinc finger protein 8 (clone HF.18); zinc finger protein 8; zinc finger protein HF.18", "tax_id": 9606, "disease": "", "pathway": " (hsa:7554)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "12370310;16964243;17525332;2106481;25576301;25880248;28832583;29242379;29557506;30429286;30524438;31154438;31844290;31998317;32157095;32357974;32502341;32938616;32983136;33592498;33912179;33968037;34509645;36010968;37126948;37217939;39173856;39225541", "class_list": "", "function": "Transcriptional repressor. May modulate BMP and TGF-beta signal transduction, through its interaction with SMAD proteins., [UniProtKB, UniProtKB]; ZNF8 Orchestrates with Smad3 to Promote Lung Metastasis by Recruiting SMYD3 in Breast Cancer., [RefSeq, PubMed]; ZNF8 promotes progression of gastrointestinal cancers via a p53-dependent mechanism., [RefSeq, PubMed]; ZNF8-miR-552-5p Axis Modulates ACSL4-Mediated Ferroptosis 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q6PI99", "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_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "P17098-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q0VFX4-1", "uniprot_id": "YL016_HUMAN", "mass": 18056.0, "length": 171, "protein_name": "Putative uncharacterized protein LOC100128554", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein LOC100128554", "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": "Q0VFX4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5HYM0-1", "uniprot_id": "ZC12B_HUMAN", "mass": 94205.0, "length": 836, "protein_name": "Probable ribonuclease ZC3H12B", "gene_name": "ZC3H12B", "organism": "Human", "refseq_name": "probable ribonuclease ZC3H12B", "refseq_ac": "NP_001010888", "gene_names_uniprotkb": "ZC3H12B; CXorf32; MCPIP2", "gene_names_refseq": "CXorf32; MCPIP2; ZC3H12B", "protein_names_uniprotkb": "Probable ribonuclease ZC3H12B; 3.1.-.-; MCP-induced protein 2; Zinc finger CCCH domain-containing protein 12B", "protein_names_refseq": "MCP-induced protein 2; probable ribonuclease ZC3H12B; zinc finger CCCH domain-containing protein 12B", "tax_id": 9606, "disease": "", "pathway": " (hsa:340554)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;18178554;24715725;28832583;28904123;29242379;30379171;31844290;31998317;32961112;32983136;34087483;34171305;35051231;35580925;36753401", "class_list": "", "function": "Bayesian Genome-wide TWAS Method to Leverage both cis- and trans-eQTL Information through Summary Statistics., [RefSeq, PubMed]; MCPIP1, 2, 3, and 4, encoded by four genes, Zc3h12a, Zc3h12b, Zc3h12c, and Zc3h12d, respectively, regulates macrophage activation., [RefSeq, PubMed]; May function as RNase and regulate the levels of target RNA species., [UniProtKB]; The homeostatic function of Regnase-2 restricts neuroinflammation., [RefSeq, PubMed]; The protein encoded by this gene belongs to a family of CCCH-type zinc finger proteins that are involved in the proinflammatory activation of macrophages. The exact function of this family member is unknown, but it is thought to function as a ribonuclease. [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": 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": "B2RTQ3;E9PAJ6;Q5H9C0", "ec_number_list": "", "go_molecular_function": "GO:0003729 mRNA binding;GO:0008270 zinc ion binding;GO:0016787 hydrolase activity;GO:0004521 RNA endonuclease activity;GO:0004519 endonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0036464 cytoplasmic ribonucleoprotein granule", "go_biological_process": "GO:0061158 3'-UTR-mediated mRNA destabilization", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q5HYM0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5PR19-1", "uniprot_id": "YI024_HUMAN", "mass": 24634.0, "length": 223, "protein_name": "Putative UPF0607 protein LOC392364", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative UPF0607 protein LOC392364", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "27862975", "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": "Q5PR19-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6AHZ1-1", "uniprot_id": "Z518A_HUMAN", "mass": 166782.0, "length": 1483, "protein_name": "Zinc finger protein 518A", "gene_name": "ZNF518A", "organism": "Human", "refseq_name": "zinc finger protein 518A isoform a", "refseq_ac": "NP_001265453", "gene_names_uniprotkb": "ZNF518A; KIAA0335; ZNF518", "gene_names_refseq": "ZNF518A; ZNF518", "protein_names_uniprotkb": "Zinc finger protein 518A", "protein_names_refseq": "zinc finger protein 518A isoform a; zinc finger protein 518", "tax_id": 9606, "disease": "", "pathway": " (hsa:9849)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "17081983;23186163;23481700;24715725;25218447;25418920;25576301;25645385;25755297;26154972;26375851;26992070;27846572;27862975;27869121;27920218;28228285;28411811;28832583;28834231;28904123;29242379;29632711;30315122;30410026;30524438;30779550;30784271;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33717175;33936100;33968037;33981976;34087483;34185709;34509645;34561969;35051231;35580925;36010968;36241641;37217939;39894887", "class_list": "", "function": "The protein encoded by this gene is a member of the krueppel C2H2-type zinc finger protein family. The encoded protein contains five zinc fingers and is likely a nuclear transcriptional regulator. Numerous transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2016]., [RefSeq]; Through its association with the EHMT1-EHMT2/G9A and PRC2/EED-EZH2 histone methyltransferase complexes may function in gene silencing, regulating repressive post-translational methylation of histone tails at promoters of target genes., [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": 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": "A0PJI5;O15044;Q32MP4", "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_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q6AHZ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UWF5-1", "uniprot_id": "YF002_HUMAN", "mass": 12886.0, "length": 114, "protein_name": "Putative uncharacterized protein UNQ5815/PRO19632", "gene_name": "PRO19632", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "PRO19632", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein UNQ5815/PRO19632", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "12975309", "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": "Q6UWF5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZNX1-1", "uniprot_id": "SHLD3_HUMAN", "mass": 28842.0, "length": 250, "protein_name": "Shieldin complex subunit 3", "gene_name": "SHLD3", "organism": "Human", "refseq_name": "shieldin complex subunit 3", "refseq_ac": "NP_001352270", "gene_names_uniprotkb": "SHLD3; FLJ26957; RINN1", "gene_names_refseq": "CTC-534A2.2; RINN1; SHLD3", "protein_names_uniprotkb": "Shieldin complex subunit 3; REV7-interacting novel NHEJ regulator 1; Shield complex subunit 3", "protein_names_refseq": "REV7-interacting novel NHEJ regulator 1; shield complex subunit 3; shieldin complex subunit 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:112441434)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "27920218;28228285;29632046;29656893;31796627;31844290;33592498;34354233", "class_list": "", "function": "Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection. Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres., [UniProtKB, PubMed]; Structural basis for shieldin complex subunit 3-mediated recruitment of the checkpoint protein REV7 during DNA double-strand break 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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_cellular_component": "GO:0000785 chromatin;GO:0035861 site of double-strand break;GO:0005694 chromosome", "go_biological_process": "GO:2000042 negative regulation of double-strand break repair via homologous recombination;GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining;GO:0043247 telomere maintenance in response to DNA damage;GO:0006281 DNA repair;GO:0045830 positive regulation of isotype switching", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6ZNX1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZRG5-1", "uniprot_id": "YQ015_HUMAN", "mass": 24122.0, "length": 221, "protein_name": "Putative uncharacterized protein FLJ43944", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FLJ43944", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "29557506;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": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6ZRG5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZS92-1", "uniprot_id": "YD022_HUMAN", "mass": 18106.0, "length": 163, "protein_name": "Putative uncharacterized protein FLJ45721", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FLJ45721", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "30379171", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q6ZS92-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZSR6-1", "uniprot_id": "YP007_HUMAN", "mass": 22955.0, "length": 202, "protein_name": "Putative uncharacterized protein FLJ45256", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FLJ45256", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "27893789", "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": "A2RU57", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q6ZSR6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZST2-1", "uniprot_id": "COLDT_HUMAN", "mass": 14410.0, "length": 131, "protein_name": "Putative uncharacterized protein COL25A1-DT", "gene_name": "COL25A1-DT", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "COL25A1-DT; ZCCHC23", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein COL25A1-DT; COL25A1 divergent transcript; Zinc finger CCHC domain-containing protein 23", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "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:0008270 zinc ion binding;GO:0003676 nucleic acid binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q6ZST2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZUT4-1", "uniprot_id": "YL014_HUMAN", "mass": 14221.0, "length": 128, "protein_name": "Putative uncharacterized protein FLJ43343", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FLJ43343", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q6ZUT4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q71RG6-1", "uniprot_id": "YH006_HUMAN", "mass": 21376.0, "length": 208, "protein_name": "Putative chemokine-related protein FP248", "gene_name": "FP248", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "FP248", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative chemokine-related protein FP248; Protein N73", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "15498874;22586462", "class_list": "", "function": "", "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": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q71RG6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IVQ6-1", "uniprot_id": "ZDH21_HUMAN", "mass": 31385.0, "length": 265, "protein_name": "Palmitoyltransferase ZDHHC21", "gene_name": "ZDHHC21", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC21 isoform 1", "refseq_ac": "NP_848661", "gene_names_uniprotkb": "ZDHHC21", "gene_names_refseq": "DHHC-21; DHHC21; DNZ1; HSPC097; ZDHHC21", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC21; 2.3.1.225; DHHC domain-containing cysteine-rich protein 21; DHHC-21; Zinc finger DHHC domain-containing protein 21", "protein_names_refseq": "DHHC domain-containing cysteine-rich protein 21; palmitoyltransferase ZDHHC21 isoform 1; palmitoyltransferase ZDHHC21; zinc finger DHHC-type containing 21; zinc finger DHHC-type palmitoyltransferase 21; zinc finger, DHHC domain containing 21", "tax_id": 9606, "disease": "", "pathway": " (hsa:340481); (R-HSA-203615); (R-HSA-9009391)", "pathway_count": 3, "publication_count": 113, "publication_id_list": "10319328;10376602;10376603;10427092;10469573;10559837;10749889;10781589;10806474;11029009;11029403;11043579;11044445;11185956;11208594;11237011;11369763;11498544;11689445;11773442;11773443;11825873;11879202;11893755;11981029;11988487;12048194;12388769;12421825;12431978;12511868;12588983;12682286;12799359;12808053;12881510;1378832;14530264;14764897;15033483;15044318;15090535;15231873;15314172;15467163;15496458;15569929;15598505;15657067;15705661;15956360;16239258;16274718;16636149;16645038;16647879;16722822;16835357;16864653;17037979;17424910;17525128;17535799;17916740;17921256;18171027;18206197;18446211;18657504;19138696;19147491;19663506;19879889;20439495;20511233;20650261;20861220;21680538;21851428;21898353;22028449;22031296;22266855;22446104;24039841;24530924;25587652;27288742;27846572;28539435;28671819;29242379;29738483;31844290;33298915;34357683;37216691;37296100;7512951;7526779;7750475;8692835;8782602;8798458;8876252;9173876;9188442;9325253;9395517;9565625;9580552;9616126;9712842", "class_list": "", "function": "Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates (PubMed:22031296). Palmitoylates sex steroid hormone receptors, including ESR1, PGR and AR, thereby regulating their targeting to the plasma membrane (PubMed:22031296). This affects rapid intracellular signaling by sex hormones via ERK and AKT kinases and the generation of cAMP, but does not affect that mediated by their nuclear receptor (PubMed:22031296). Palmitoylates FYN, regulates its localization in hair follicles and plays a key role in epidermal homeostasis and hair follicle differentiation. Through the palmitoylation of PLCB1 and the regulation of PLCB1 downstream signaling may indirectly regulate the function of the endothelial barrier and the adhesion of leukocytes to the endothelium. Also has a palmitoyltransferase activity toward ADRA1D, positively regulating its activity and expression and may thereby play a role in vascular contraction. May also palmitoylate eNOS and LCK (By similarity)., [UniProtKB, PubMed, UniProtKB]; The DHHC-7 and -21 proteins are novel targets to selectively inhibit membrane sex steroid receptor localization and function, [RefSeq, PubMed]; The palmitoyltransferase ZDHHC21 regulates oxidative phosphorylation to induce differentiation block and stemness in AML., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A8KA95;D3DRI7;Q5VWG1", "ec_number_list": "2.3.1.225;6.3.1.2;1.14.13.39;2.3.1.-", "go_molecular_function": "GO:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0016409 palmitoyltransferase activity", "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:0046209 nitric oxide metabolic process;GO:1903140 regulation of establishment of endothelial barrier;GO:0003056 regulation of vascular associated smooth muscle contraction;GO:0006612 protein targeting to membrane;GO:0071875 adrenergic receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q8IVQ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N8Y5-1", "uniprot_id": "ZFP41_HUMAN", "mass": 22806.0, "length": 198, "protein_name": "Zinc finger protein 41 homolog", "gene_name": "ZFP41", "organism": "Human", "refseq_name": "zinc finger protein 41 homolog", "refseq_ac": "NP_001258085", "gene_names_uniprotkb": "ZFP41", "gene_names_refseq": "ZFP41; ZNF753; zfp-41", "protein_names_uniprotkb": "Zinc finger protein 41 homolog; Zfp-41", "protein_names_refseq": "zinc finger protein 41 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:286128)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "38516783", "class_list": "", "function": "A putative DNA-binding regulatory protein associated with meiosis in spermatogenesis., [UniProtKB]; Combining a glycolysis-related prognostic model based on scRNA-Seq with experimental verification identifies ZFP41 as a potential prognostic biomarker for HCC., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "D3DWJ5", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8N8Y5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TCH9-1", "uniprot_id": "YV004_HUMAN", "mass": 14227.0, "length": 128, "protein_name": "Putative uncharacterized protein FLJ23865", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FLJ23865", "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": "Q8TCH9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WVZ1-1", "uniprot_id": "ZDH19_HUMAN", "mass": 34352.0, "length": 309, "protein_name": "Palmitoyltransferase ZDHHC19", "gene_name": "ZDHHC19", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC19", "refseq_ac": "NP_001034706", "gene_names_uniprotkb": "ZDHHC19", "gene_names_refseq": "DHHC19; ZDHHC19", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC19; 2.3.1.225; DHHC-19; Zinc finger DHHC domain-containing protein 19", "protein_names_refseq": "DHHC-19; palmitoyltransferase ZDHHC19; probable palmitoyltransferase ZDHHC19; zinc finger DHHC domain-containing protein 19; zinc finger DHHC-type containing 19; zinc finger DHHC-type palmitoyltransferase 19; zinc finger, DHHC domain containing 19", "tax_id": 9606, "disease": "", "pathway": " (hsa:131540)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "20074548;30404808;31462771;35051231;35297315;37802024", "class_list": "", "function": "(Microbial infection) Promotes Chikungunya virus (CHIKV) replication by mediating viral nsp1 palmitoylation., [UniProtKB, PubMed]; Palmitoyltransferase that mediates palmitoylation oproteins, such as RRAS and SQSTM1 (PubMed:20074548, PubMed:37802024). Catalyzes palmitoylation of RRAS, leading to increased cell viability (PubMed:20074548). Acts as a positive regulator of autophagy by mediating palmitoylation of SQSTM1, promoting affinity between SQSTM1 and ATG8 proteins and recruitment of ubiquitinated cargo proteins to autophagosomes (PubMed:37802024). Palmitoyltransferase activity may be crucial for spermatogenesis (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; The increased palmitoylation of R-Ras cotransfected with DHHC19 is accompanied by an augmented association with membranes as well as with rafts/caveolae., [RefSeq, PubMed]; Zinc finger Asp-His-His-Cys palmitoyl -acyltransferase 19 accelerates tumor progression through wnt/beta-catenin pathway and is upregulated by miR-940 in osteosarcoma., [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": "A0A0B4J1W2;A8MSY6;B3KVI1", "ec_number_list": "2.3.1.225;6.3.1.2;2.3.1.-", "go_molecular_function": "GO:0019706 protein-cysteine S-palmitoyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0006612 protein targeting to membrane;GO:0018230 peptidyl-L-cysteine S-palmitoylation;GO:1905337 positive regulation of aggrephagy", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8WVZ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WWF5-1", "uniprot_id": "ZNRF4_HUMAN", "mass": 46958.0, "length": 429, "protein_name": "E3 ubiquitin-protein ligase ZNRF4", "gene_name": "ZNRF4", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase ZNRF4 precursor", "refseq_ac": "NP_859061", "gene_names_uniprotkb": "ZNRF4; RNF204", "gene_names_refseq": "RNF204; SPERIZIN; Ssrzf1; ZNRF4; spzn", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase ZNRF4; 2.3.2.27; Nixin; RING finger protein 204; RING-type E3 ubiquitin transferase ZNRF4; Zinc/RING finger protein 4", "protein_names_refseq": "E3 ubiquitin-protein ligase ZNRF4 precursor; E3 ubiquitin-protein ligase ZNRF4; RING finger protein 204; RING-type E3 ubiquitin transferase ZNRF4; nixin; zinc/RING finger protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:148066)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10191088;21205830;24387786;28656966;29242379;30573663;31844290;35051231", "class_list": "", "function": "Characterization and study of mouse homolog., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that acts as a negative regulator of NOD2 signaling by mediating ubiquitination and degradation of RIPK2 (PubMed:28656966). Also catalyzes ubiquitination and proteasomal degradation of CANX within the endoplasmic reticulum (PubMed:21205830). Could have a role in spermatogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Nixin/ZNRF4 to be central for the regulation of calnexin turnover., [RefSeq, PubMed]; ZNRF4 is a negative regulator of NOD2 and NF-kappaB. ZNRF4 promotes K48-linked ubiquitination of RIP2.ZNRF4 role in the protective host immunity. Erratum:[Nat Commun. 2017 Aug 18;8:16141. doi: 10.1038/ncomms16141. PMID: 28820178] 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 33, "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": "A8K886;O75866", "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:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0045786 negative regulation of cell cycle;GO:0070433 negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8WWF5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96IR3-1", "uniprot_id": "YV007_HUMAN", "mass": 4679.0, "length": 41, "protein_name": "Putative uncharacterized protein MGC15705", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein MGC15705", "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": "Q96IR3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96MF0-1", "uniprot_id": "YO028_HUMAN", "mass": 14640.0, "length": 132, "protein_name": "Putative uncharacterized protein LOC100506887", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein LOC100506887", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "29557506;31530632", "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": "B2RPC9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q96MF0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96MV8-1", "uniprot_id": "ZDH15_HUMAN", "mass": 39331.0, "length": 337, "protein_name": "Palmitoyltransferase ZDHHC15", "gene_name": "ZDHHC15", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC15 isoform 2", "refseq_ac": "NP_001139728", "gene_names_uniprotkb": "ZDHHC15; PRO4501", "gene_names_refseq": "DHHC15; MRX91; ZDHHC15", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC15; 2.3.1.-; 2.3.1.225; Acyltransferase ZDHHC15; DHHC-15; Zinc finger DHHC domain-containing protein 15", "protein_names_refseq": "DHHC-15; acyltransferase ZDHHC15; palmitoyltransferase ZDHHC15 isoform 2; palmitoyltransferase ZDHHC15; zinc finger DHHC domain-containing protein 15; zinc finger DHHC-type containing 15; zinc finger DHHC-type palmitoyltransferase 15; zinc finger, DHHC domain containing 15", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability 91 (Disease Ontology:DOID:0112043); syndrome (Disease Ontology:DOID:225)", "pathway": " (hsa:158866)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10.1101/2023.09.13.557529;12975309;15915161;16647879;18817523;19956733;23034182;33541421;33968037;36565021;37161425;37217939", "class_list": "", "function": "Local anesthetics impair the growth and self-renewal of glioblastoma stem cells by inhibiting ZDHHC15-mediated GP130 palmitoylation. Publication Status: Online-Only, [RefSeq, PubMed]; Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates (PubMed:18817523, PubMed:23034182). Has no stringent fatty acid selectivity and in addition to palmitate can also transfer onto target proteins myristate from tetradecanoyl-CoA and stearate from octadecanoyl-CoA (By similarity). Palmitoylates IGF2R and SORT1, promoting their partitioning to an endosomal membrane subdomain where they can interact with the retromer cargo-selective complex (PubMed:18817523). Thereby, regulates retrograde transport from endosomes to the Golgi apparatus of these lysosomal sorting receptors and plays a role in trafficking of lysosomal proteins (PubMed:18817523). In the nervous system, catalyzes the palmitoylation of DLG4/PSD95 and regulates its synaptic clustering and function in synaptogenesis (By similarity). Could be involved in the differentiation of dopaminergic neurons and the development of the diencephalon (By similarity). Could also catalyze the palmitoylation of GAP43 (By similarity). Could also palmitoylate DNAJC5 and regulate its localization to the Golgi membrane (By similarity). Could also palmitoylate FYN as shown in vitro (PubMed:19956733). May palmitoylate CALHM3 subunit of gustatory voltage-gated ion channels and modulate channel gating and kinetics., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; The protein encoded by this gene belongs to the DHHC palmitoyltransferase family. Mutations in this gene are associated with mental retardatio X-linked type 91 (MRX91). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]., [RefSeq]; ZDHHC15 as a candidate gene for autism spectrum disorder., [RefSeq, PubMed]; ZDHHC15 promotes glioma malignancy and acts as a novel prognostic biomarker for patients with glioma. 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": 8, "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": "B3KVG7;Q3SY30;Q6UWH3", "ec_number_list": "2.3.1.225;6.3.1.2;2.3.1.-", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0016409 palmitoyltransferase activity;GO:0019705 protein-cysteine S-myristoyltransferase activity;GO:0140439 protein-cysteine S-stearoyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0014069 postsynaptic density;GO:0098794 postsynapse", "go_biological_process": "GO:0006612 protein targeting to membrane;GO:0072657 protein localization to membrane;GO:0061001 regulation of dendritic spine morphogenesis;GO:1900006 positive regulation of dendrite development;GO:0018230 peptidyl-L-cysteine S-palmitoylation", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q96MV8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H354-1", "uniprot_id": "YJ001_HUMAN", "mass": 14747.0, "length": 126, "protein_name": "Putative uncharacterized protein PRO1933", "gene_name": "PRO1933", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "PRO1933", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein PRO1933", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "28904123", "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": "Q9H354-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NSJ1-1", "uniprot_id": "Z355P_HUMAN", "mass": 49689.0, "length": 428, "protein_name": "Putative zinc finger protein 355P", "gene_name": "ZNF355P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ZNF355P; PRED65; ZNF834", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative zinc finger protein 355P; Zinc finger protein ZnFP01", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "1740334", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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: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": 0.2, "record_id": "Q9NSJ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P1Z0-1", "uniprot_id": "ZBTB4_HUMAN", "mass": 105114.0, "length": 1013, "protein_name": "Zinc finger and BTB domain-containing protein 4", "gene_name": "ZBTB4", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 4", "refseq_ac": "NP_001122305", "gene_names_uniprotkb": "ZBTB4; KIAA1538", "gene_names_refseq": "KAISO-L1; ZBTB4; ZNF903", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 4; KAISO-L1; KAISO-like zinc finger protein 1", "protein_names_refseq": "KAISO-like zinc finger protein 1; zinc finger and BTB domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:57659)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "16354688;18451802;19448668;20068231;20112406;23186163;23251453;23481700;25218447;25576301;25755297;26375851;27846572;27862975;27920218;28063628;28228285;28832583;28904123;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30429286;31154438;31217245;31585814;31844290;31848261;31998317;32157095;32161166;32387766;32488085;32502341;32897882;32938616;33298915;33341002;33912179;34171305;34211107;34932366;35051231;35318648;35580925;36010968;36538280;36949454;37938771", "class_list": "", "function": "Identification of ZBTB4 as an immunological biomarker that can inhibit the proliferation and invasion of pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-301-3p was highly expressed in gastric cancer contributed to tumor progression via attenuating ZBTB4, [RefSeq, PubMed]; MiRNA-576-5p promotes endometrial cancer cell growth and metastasis by targeting ZBTB4., [RefSeq, PubMed]; Results show that overexpressing HIPK2 causes the degradation of ZBTB4, whereas overexpressing a kinase-deficient mutant of HIPK2 has no effect., [RefSeq, PubMed]; Suppression of lncRNA MALAT1 reduces pro-inflammatory cytokines production by regulating miR-150-5p/ZBTB4 axis through JAK/STAT signal pathway in systemic juvenile idiopathic arthritis., [RefSeq, PubMed]; These data suggest that Zbtb4 is a critical determinant of the cellular response to p53 activation and reinforce the notion that p21Cip1 can provide an essential survival signal in cells with activated p53., [RefSeq, PubMed]; Transcriptional repressor with bimodal DNA-binding specificity. Represses transcription in a methyl-CpG-dependent manner. Binds with a higher affinity to methylated CpG dinucleotides in the consensus sequence 5'-CGCG-3' but can also bind to the non-methylated consensus sequence 5'-CTGCNA-3' also known as the consensus kaiso binding site (KBS). Can also bind specifically to a single methyl-CpG pair and can bind hemimethylated DNA but with a lower affinity compared to methylated DNA (PubMed:16354688). Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal (By similarity)., [UniProtKB, UniProtKB, PubMed]; ZBTB4 binds methylated methylated CpGs in vitro and in vivo and represses transcrption., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 0, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "reported_glycation": 0, "reported_snv": 17, "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": "B3KVL6;Q7Z697;Q86XJ4;Q8N4V8", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019901 protein kinase binding;GO:0042803 protein homodimerization 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_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0005694 chromosome", "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:0045892 negative regulation of DNA-templated transcription;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q9P1Z0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UGR2-1", "uniprot_id": "Z3H7B_HUMAN", "mass": 109858.0, "length": 977, "protein_name": "Zinc finger CCCH domain-containing protein 7B", "gene_name": "ZC3H7B", "organism": "Human", "refseq_name": "zinc finger CCCH domain-containing protein 7B", "refseq_ac": "NP_060060", "gene_names_uniprotkb": "ZC3H7B; KIAA1031", "gene_names_refseq": "ROXAN1; RoXaN; ZC3H7B", "protein_names_uniprotkb": "Zinc finger CCCH domain-containing protein 7B; RoXaN; Rotavirus 'X'-associated non-structural protein", "protein_names_refseq": "Rotavirus 'X' associated non-structural protein; rotavirus 'X'-associated non-structural protein; rotavirus X protein associated with NSP3; ubiquitous tetratricopeptide containing protein RoXaN; zinc finger CCCH domain-containing protein 7B", "tax_id": 9606, "disease": "", "pathway": " (hsa:23264)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "15047801;15592455;18799579;19413330;19690332;20068231;23186163;23580382;24275569;24285434;25418920;26375851;26752546;27631520;27862975;27920218;28218747;28228285;28431233;28514659;28832583;28834231;29242379;29393594;29493099;29557506;29632711;29786170;30315122;30410026;30429286;30524438;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34932366;35051231;35580925;36010968;36241641;36284347;37938771;38665916", "class_list": "", "function": "May be a specific regulator of miRNA biogenesis. Binds to microRNAs MIR7-1, MIR16-2 and MIR29A hairpins recognizing the 'ATA(A/T)' motif in the apical loop., [UniProtKB, PubMed]; Nuclear localization of PABP-C1 not only is dependent on the capacity of rotavirus NSP3 to interact with eIF4G but also requires the interaction of NSP3 with a specific region in RoXaN, [RefSeq, PubMed]; Reverse transciptase-PCR with the ZC3H7B forward and BCOR reverse primer combinations confirmed the presence of a ZC3H7-BCOR chimeric transcript in both ESS carrying a der(22)t(X;22) but not in a control ESS with t(1;6) and the MEAF6-PHF1 fusion., [RefSeq, PubMed]; RoXaN is capable of interacting with NSP3 and eIF4G I in vivo and during rotavirus infection. Domains of interaction were mapped., [RefSeq, PubMed]; The present study further expands the genetic spectrum of small blue round cell tumors, with 2 novel fusions, BCOR-MAML3 and ZC3H7B-BCOR, identified, [RefSeq, PubMed]; This gene encodes a protein that contains a tetratricopeptide repeat domain. The encoded protein also interacts with the rotavirus non-structural protein NSP3. [provided by RefSeq, Jul 2008]., [RefSeq]; We find that ESS with ZC3H7B-BCOR fusion constitutes a novel type of high-grade endometrial stromal sarcoma and shares significant morphologic overlap with myxoid leiomyosarcoma., [RefSeq, PubMed]; ZC3H7B-BCOR and MEAF6-PHF1 fusions occurred predominantly in S100 protein-negative and malignant ossifying fibromyxoid tumors., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A7YY88;B2RCA4;Q5TFX9;Q8TBT9;Q9H8B6;Q9UGQ9;Q9UGR0;Q9UGR1;Q9UK03;Q9UPW9", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0035198 miRNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0010608 post-transcriptional regulation of gene expression;GO:0035196 miRNA processing", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9UGR2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UI54-1", "uniprot_id": "YT001_HUMAN", "mass": 6387.0, "length": 55, "protein_name": "Putative uncharacterized protein PRO0628", "gene_name": "PRO0628", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "PRO0628", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein PRO0628", "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": "Q9UI54-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UI72-1", "uniprot_id": "YE014_HUMAN", "mass": 8249.0, "length": 69, "protein_name": "Putative uncharacterized protein PRO0255", "gene_name": "PRO0255", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "PRO0255", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein PRO0255", "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": "Q9UI72-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6Q3-1", "uniprot_id": "ZFP37_HUMAN", "mass": 71209.0, "length": 630, "protein_name": "Zinc finger protein 37 homolog", "gene_name": "ZFP37", "organism": "Human", "refseq_name": "zinc finger protein 37 homolog isoform 1", "refseq_ac": "NP_001269444", "gene_names_uniprotkb": "ZFP37", "gene_names_refseq": "ZFP37; ZNF906; zfp-37", "protein_names_uniprotkb": "Zinc finger protein 37 homolog; Zfp-37", "protein_names_refseq": "zinc finger protein 37 homolog isoform 1; zinc finger protein 37 homolog; zinc finger protein homologous to Zfp37 in mouse", "tax_id": 9606, "disease": "", "pathway": " (hsa:7539); (R-HSA-212436)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;30429286;32157095;33392160;8183939;8769649;9585434;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; This gene encodes a transcription factor that belongs to a large family of zinc finger proteins. A similar protein in mouse is thought to play a role in regulating the structures of the nucleolus and centromere in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0AVJ9;B4DVX4;G3V3L7;Q5T7Q4", "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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9Y6Q3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0U1RRL7-1", "uniprot_id": "MMPOS_HUMAN", "mass": 7680.0, "length": 71, "protein_name": "Protein MMP24OS", "gene_name": "MMP24OS", "organism": "Human", "refseq_name": "protein MMP24OS", "refseq_ac": "NP_001341932", "gene_names_uniprotkb": "MMP24OS; MMP24-AS1", "gene_names_refseq": "MMP24-AS1; MMP24OS", "protein_names_uniprotkb": "Protein MMP24OS; MMP24 opposite strand", "protein_names_refseq": "MMP24 antisense RNA 1; protein MMP24OS", "tax_id": 9606, "disease": "", "pathway": " (hsa:101410538)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "29474001", "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": "A0A0U1RRL7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1B0GUT2-1", "uniprot_id": "CJ143_HUMAN", "mass": 11738.0, "length": 108, "protein_name": "Uncharacterized protein C10orf143", "gene_name": "C10orf143", "organism": "Human", "refseq_name": "uncharacterized protein C10orf143", "refseq_ac": "NP_001341971", "gene_names_uniprotkb": "C10orf143", "gene_names_refseq": "C10orf143; LINC00959", "protein_names_uniprotkb": "Uncharacterized protein C10orf143", "protein_names_refseq": "long intergenic non-protein coding RNA 959; uncharacterized protein C10orf143", "tax_id": 9606, "disease": "", "pathway": " (hsa:387723)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A1B0GUT2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MXY4-1", "uniprot_id": "ZNF99_HUMAN", "mass": 100791.0, "length": 864, "protein_name": "Zinc finger protein 99", "gene_name": "ZNF99", "organism": "Human", "refseq_name": "zinc finger protein 99", "refseq_ac": "NP_001073878", "gene_names_uniprotkb": "ZNF99; C19orf9", "gene_names_refseq": "C19orf9; F8281; ZNF99", "protein_names_uniprotkb": "Zinc finger protein 99", "protein_names_refseq": "zinc finger protein 99; zinc finger protein ENSP00000375192", "tax_id": 9606, "disease": "", "pathway": " (hsa:7652); (R-HSA-212436)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;29493099;31844290;32357974;8183939;8467795;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "M0R335", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000976 transcription cis-regulatory region 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": 1.8, "record_id": "A8MXY4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "C9JN71-1", "uniprot_id": "ZN878_HUMAN", "mass": 61540.0, "length": 531, "protein_name": "Zinc finger protein 878", "gene_name": "ZNF878", "organism": "Human", "refseq_name": "zinc finger protein 878", "refseq_ac": "NP_001073873", "gene_names_uniprotkb": "ZNF878", "gene_names_refseq": "ZNF878", "protein_names_uniprotkb": "Zinc finger protein 878", "protein_names_refseq": "zinc finger protein 878", "tax_id": 9606, "disease": "", "pathway": " (hsa:729747)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "25892735;29769354;31844290;32357974;32582212;33717175;35051231;36581221", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "", "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": 0.9, "record_id": "C9JN71-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CG24-1", "uniprot_id": "ZN883_HUMAN", "mass": 43967.0, "length": 379, "protein_name": "Zinc finger protein 883", "gene_name": "ZNF883", "organism": "Human", "refseq_name": "zinc finger protein 883", "refseq_ac": "NP_001094808", "gene_names_uniprotkb": "ZNF883", "gene_names_refseq": "ZNF883", "protein_names_uniprotkb": "Zinc finger protein 883", "protein_names_refseq": "zinc finger protein 883", "tax_id": 9606, "disease": "", "pathway": " (hsa:169834)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 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"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": "A0A024R1R8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0A0MS06-1", "uniprot_id": "TVB23_HUMAN", "mass": 12785.0, "length": 115, "protein_name": "Probable non-functional T cell receptor beta variable 23-1", "gene_name": "TRBV23-1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV23-1", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional T cell receptor beta variable 23-1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "15040585;20452950;23524462;24600447;25493333;9619395", "class_list": "", "function": "Probable non-functional open reading frame (ORF) of V region of the variable domain of T cell receptor (TR) beta chain (PubMed:24600447). Non-functional ORF generally cannot participate in the synthesis of a productive T cell receptor (TR) chain due to altered V-(D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level) (PubMed:9619395). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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:0042101 T cell receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0A0A0MS06-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A599-1", "uniprot_id": "TVB56_HUMAN", "mass": 12565.0, "length": 114, "protein_name": "T cell receptor beta variable 5-6", "gene_name": "TRBV5-6", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV5-6; TCRBV5S2", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 5-6", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "15040585;20452950;23524462;24600447;25493333;8650574", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0A599-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0C4DH30-1", "uniprot_id": "HV316_HUMAN", "mass": 13070.0, "length": 117, "protein_name": "Probable non-functional immunoglobulin heavy variable 3-16", "gene_name": "IGHV3-16", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGHV3-16", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional immunoglobulin heavy variable 3-16", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 8, "publication_id_list": "11340299;17576170;20176268;22158414;24600447;27999743;35580925;9619395", "class_list": "immunoglobin", "function": "Probable non-functional open reading frame (ORF) of V region of the variable domain of immunoglobulin heavy chains (PubMed:24600447). Non-functional ORF generally cannot participate in the synthesis of a productive immunoglobulin chain due to altered V-(D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level) (PubMed:9619395). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, 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": 174, "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:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A0A0C4DH30-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A286YEU6-1", "uniprot_id": "OR1R1_HUMAN", "mass": 34020.0, "length": 314, "protein_name": "Olfactory receptor 1R1", "gene_name": "OR1R1", "organism": "Human", "refseq_name": "olfactory receptor 1R1", "refseq_ac": "NP_001382985", "gene_names_uniprotkb": "OR1R1; OR1R1P; OR20A1P OR1R2P OR1R3P", "gene_names_refseq": "OR17-01; OR17-1; OR1R1P; OR1R1; OR1R2P; OR1R3P; OR20A1P", "protein_names_uniprotkb": "Olfactory receptor 1R1; Olfactory receptor family 1 subfamily R member 1 pseudogene; Olfactory receptor family 1 subfamily R member 1", "protein_names_refseq": "olfactory receptor 1R1; olfactory receptor OR1R1; olfactory receptor family 1 subfamily R member 1 pseudogene; olfactory receptor, family 1, subfamily R, member 2 pseudogene; olfactory receptor, family 1, subfamily R, member 3 pseudogene; olfactory receptor, family 20, subfamily A, member 1 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:9596)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 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:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A286YEU6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A577-1", "uniprot_id": "TVB41_HUMAN", "mass": 12859.0, "length": 114, "protein_name": "T cell receptor beta variable 4-1", "gene_name": "TRBV4-1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV4-1; TCRBV7S1A1N2T", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 4-1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "15040585;20452950;23524462;24600447;25493333;8650574", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A0A075B6L4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response;GO:0002376 immune system process", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0A577-1", "record_type": "protein" }, { "uniprot_canonical_ac": "D0EPY3-1", "uniprot_id": "SIM47_HUMAN", "mass": 3285.0, "length": 28, "protein_name": "Small integral membrane protein 47", "gene_name": "SMIM47", "organism": "Human", "refseq_name": "small integral membrane protein 47", "refseq_ac": "NP_001371526", "gene_names_uniprotkb": "SMIM47", "gene_names_refseq": "SMIM47", "protein_names_uniprotkb": "Small integral membrane protein 47", "protein_names_refseq": "CTD-2568A17.1; small integral membrane protein 47", "tax_id": 9606, "disease": "", "pathway": " (hsa:105372440)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "D0EPY3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0K2S4Q6-1", "uniprot_id": "CD3CH_HUMAN", "mass": 21806.0, "length": 201, "protein_name": "Protein CD300H", "gene_name": "CD300H", "organism": "Human", "refseq_name": "protein CD300H isoform 1 precursor", "refseq_ac": "NP_001311002", "gene_names_uniprotkb": "CD300H", "gene_names_refseq": "CD300Hs; CD300H", "protein_names_uniprotkb": "Protein CD300H; CD300 antigen-like family member H", "protein_names_refseq": "CD300 antigen-like family member H; CD300c molecule-like; protein CD300H isoform 1 precursor; protein CD300H", "tax_id": 9606, "disease": "", "pathway": " (hsa:100130520)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "26221034", "class_list": "", "function": "May play an important role in innate immunity by mediating a signal for the production of a neutrophil chemoattractant., [UniProtKB, PubMed]; Results suggest that CD300H may play an important role in innate immunity., [RefSeq, PubMed]; This gene belongs to the CD300 gene family, which in turn, belongs to the immunoglobulin (Ig) superfamily. This gene is located within a CD300 cluster on chromosome 17. The encoded protein may be involved in innate immunity as well as autoimmune response. A G>A mutation, represented by the single nucleotide polymorphism (SNP) rs905709, at the splice donor site of the 5' terminal exon may be associated with lack of expression of this gene in homozygous (AA) individuals. The human reference assembly (GRCh38.p2) represents the 'A' allele at this SNP. [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A0A0K2S5L2;A0A286YF48", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0045088 regulation of innate immune response;GO:0030593 neutrophil chemotaxis", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A0K2S4Q6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1B0GV85-1", "uniprot_id": "RELD1_HUMAN", "mass": 56837.0, "length": 526, "protein_name": "Reelin domain-containing protein 1", "gene_name": "REELD1", "organism": "Human", "refseq_name": "reelin domain-containing protein 1 precursor", "refseq_ac": "NP_001341560", "gene_names_uniprotkb": "REELD1", "gene_names_refseq": "REELD1", "protein_names_uniprotkb": "Reelin domain-containing protein 1", "protein_names_refseq": "reelin domain-containing protein 1 precursor; reelin domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:345051)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;11752456;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:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A0A1B0GV85-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3ZM63-1", "uniprot_id": "ETDA_HUMAN", "mass": 6991.0, "length": 59, "protein_name": "Embryonic testis differentiation protein homolog A", "gene_name": "ETDA", "organism": "Human", "refseq_name": "embryonic testis differentiation homolog A", "refseq_ac": "NP_001342451", "gene_names_uniprotkb": "ETDA", "gene_names_refseq": "ETDA", "protein_names_uniprotkb": "Embryonic testis differentiation protein homolog A", "protein_names_refseq": "embryonic testis differentiation homolog A", "tax_id": 9606, "disease": "", "pathway": " (hsa:101928677)", "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": "Q3ZM63-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0A0MT94-1", "uniprot_id": "TJB22_HUMAN", "mass": 1740.0, "length": 16, "protein_name": "T cell receptor beta joining 2-2", "gene_name": "TRBJ2-2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBJ2-2", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta joining 2-2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "11237011;15040585;20452950;23524462;24600447;25493333;32561536", "class_list": "", "function": "J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "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:0042101 T cell receptor complex", "go_biological_process": "GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "A0A0A0MT94-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0G2JKW9-1", "uniprot_id": "A0A0G2JKW9_HUMAN", "mass": 3495.0, "length": 36, "protein_name": "Uncharacterized protein", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A0G2JKW9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0U1RQF7-1", "uniprot_id": "DP2NB_HUMAN", "mass": 13402.0, "length": 123, "protein_name": "DPEP2 neighbor protein", "gene_name": "DPEP2NB", "organism": "Human", "refseq_name": "DPEP2 neighbor protein", "refseq_ac": "NP_001269371", "gene_names_uniprotkb": "DPEP2NB", "gene_names_refseq": "DPEP2NB", "protein_names_uniprotkb": "DPEP2 neighbor protein", "protein_names_refseq": "CTC-479C5.6; 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Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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:0042101 T cell receptor complex", "go_biological_process": "GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0A0A0MT87-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0A6YYK4-1", "uniprot_id": "TVB71_HUMAN", "mass": 12595.0, "length": 115, "protein_name": "Probable non-functional T cell receptor beta variable 7-1", "gene_name": "TRBV7-1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV7-1", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional T cell receptor beta variable 7-1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "15040585;20452950;23524462;24600447;25493333;9619395", "class_list": "", "function": "Probable non-functional open reading frame (ORF) of V region of the variable domain of T cell receptor (TR) beta chain (PubMed:24600447). Non-functional ORF generally cannot participate in the synthesis of a productive T cell receptor (TR) chain due to altered V-(D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level) (PubMed:9619395). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0A0A6YYK4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0A0MS04-1", "uniprot_id": "TVB67_HUMAN", "mass": 12588.0, "length": 114, "protein_name": "Probable non-functional T cell receptor beta variable 6-7", "gene_name": "TRBV6-7", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV6-7", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional T cell receptor beta variable 6-7", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "15040585;20452950;23524462;24600447;25493333;34509645;9619395", "class_list": "", "function": "Probable non-functional open reading frame (ORF) of V region of the variable domain of T cell receptor (TR) beta chain (PubMed:24600447). Non-functional ORF generally cannot participate in the synthesis of a productive T cell receptor (TR) chain due to altered V-(D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level) (PubMed:9619395). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "A0A0A0MS04-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0JD37-1", "uniprot_id": "TRDV3_HUMAN", "mass": 12981.0, "length": 113, "protein_name": "T cell receptor delta variable 3", "gene_name": "TRDV3", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRDV3; hDV103S1", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor delta variable 3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 8, "publication_id_list": "23348415;24387714;24600447;25674089;28920588;35580925;9110172;9461220", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) delta chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:23348415, PubMed:28920588). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. 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The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. 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The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0A589-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A5A6-1", "uniprot_id": "TVBK3_HUMAN", "mass": 12990.0, "length": 115, "protein_name": "T cell receptor beta variable 11-3", "gene_name": "TRBV11-3", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV11-3; TCRBV21S2A2", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 11-3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "15040585;20452950;23524462;24600447;25493333;38253038;8650574", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "A0A5A6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "G5E9R7-1", "uniprot_id": "KR416_HUMAN", "mass": 24569.0, "length": 235, "protein_name": "Keratin-associated protein 4-16", "gene_name": "KRTAP4-16", "organism": "Human", "refseq_name": "keratin-associated protein 4-16", "refseq_ac": "NP_001382996", "gene_names_uniprotkb": "KRTAP4-16; KRTAP4-16P; KRTAP4P1", "gene_names_refseq": "KAP4A; KRTAP4-16P; KRTAP4-16; KRTAP4P1", "protein_names_uniprotkb": "Keratin-associated protein 4-16", "protein_names_refseq": "keratin associated protein 4 pseudogene 1; keratin associated protein 4-16, pseudogene; keratin-associated protein 4-16; keratin-associated protein 4A pseudogene; putative keratin-associated protein 4-16", "tax_id": 9606, "disease": "", "pathway": " (hsa:85354)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "15955084;35580925", "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. 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"publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A8I5QJS6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DPF2-1", "uniprot_id": "NBPFK_HUMAN", "mass": 595733.0, "length": 5207, "protein_name": "NBPF family member NBPF20", "gene_name": "NBPF20", "organism": "Human", "refseq_name": "NBPF family member NBPF20 isoform 2", "refseq_ac": "NP_001265196", "gene_names_uniprotkb": "NBPF20", "gene_names_refseq": "NBPF20", "protein_names_uniprotkb": "NBPF family member NBPF20; Neuroblastoma breakpoint family member 20", "protein_names_refseq": "NBPF family member NBPF20 isoform 2; NBPF family member NBPF20; neuroblastoma breakpoint family member 20", "tax_id": 9606, "disease": "", "pathway": " (hsa:100288142)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2014]., [RefSeq]", "predicted_glycosites": 10, "predicted_n_glycosites": 0, "predicted_o_glycosites": 10, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 10, "binding_glycan_count": 0, "secondary_ac_list": "A0A075B761;A0A087WVA0;A0A087WY26;Q3BBV1;Q3BBW0", "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": "P0DPF2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A3B3IU63-1", "uniprot_id": "H2AL3_HUMAN", "mass": 17661.0, "length": 148, "protein_name": "Histone H2A-like 3", "gene_name": "H2AL3", "organism": "Human", "refseq_name": "histone H2A-like 3", "refseq_ac": "NP_001382484", "gene_names_uniprotkb": "H2AL3; H2AL1RP", "gene_names_refseq": "H2A.L.3; H2AL1RP; H2AL3", "protein_names_uniprotkb": "Histone H2A-like 3; H2A.L.3", "protein_names_refseq": "H2A.L variant histone R, pseudogene; histone H2A-like 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:115482686)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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:0003677 DNA binding;GO:0046982 protein heterodimerization activity;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005634 nucleus;GO:0000786 nucleosome", "go_biological_process": "GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A3B3IU63-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A3B3IT52-1", "uniprot_id": "MSD5_HUMAN", "mass": 24520.0, "length": 213, "protein_name": "Uncharacterized protein MSANTD5", "gene_name": "MSANTD5", "organism": "Human", "refseq_name": "uncharacterized protein MSANTD5", "refseq_ac": "NP_001382365", "gene_names_uniprotkb": "MSANTD5", "gene_names_refseq": "MSANTD5", "protein_names_uniprotkb": "Uncharacterized protein MSANTD5; Myb/SANT DNA binding domain-containing protein 5", "protein_names_refseq": "Myb/SANT DNA binding domain-containing protein 5; uncharacterized protein MSANTD5", "tax_id": 9606, "disease": "", "pathway": " (hsa:102724657)", "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": "A0A3B3IT52-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A3B3IRS2-1", "uniprot_id": "A0A3B3IRS2_HUMAN", "mass": 10812.0, "length": 109, "protein_name": "Uncharacterized protein", "gene_name": "LOC647264", "organism": "Human", "refseq_name": "keratin-associated protein 21-1", "refseq_ac": "NP_001357297", "gene_names_uniprotkb": "LOC647264", "gene_names_refseq": "LOC647264", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "keratin-associated protein 21-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:647264)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A3B3IRS2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A2R8Y4M2-1", "uniprot_id": "A0A2R8Y4M2_HUMAN", "mass": 4876.0, "length": 44, "protein_name": "Uncharacterized protein", "gene_name": "LOC128125816", "organism": "Human", "refseq_name": "uncharacterized LOC128125816", "refseq_ac": "NP_001401927", "gene_names_uniprotkb": "LOC128125816", "gene_names_refseq": "LOC128125816", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "uncharacterized LOC128125816", "tax_id": 9606, "disease": "", "pathway": " (hsa:128125816)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A2R8Y4M2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DPD6-4", "uniprot_id": "ECE2_HUMAN", "mass": 91211.0, "length": 811, "protein_name": "Endothelin-converting enzyme 2", "gene_name": "ECE2", "organism": "Human", "refseq_name": "endothelin-converting enzyme 2 isoform B", "refseq_ac": "NP_001032401", "gene_names_uniprotkb": "ECE2; KIAA0604; PRO740", "gene_names_refseq": "ECE2", "protein_names_uniprotkb": "Endothelin-converting enzyme 2; 3.4.24.71; ECE-2", "protein_names_refseq": "endothelin-converting enzyme 2 isoform B", "tax_id": 9606, "disease": "", "pathway": " (hsa:110599583); (hsa:9718); (R-HSA-375276)", "pathway_count": 3, "publication_count": 105, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11322507;11385580;11457843;11562423;11683476;11718899;11773063;12427552;12540846;12560336;12719537;1280419;12956774;12975309;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;1655761;16567585;1710450;1710578;17188679;1719979;1722333;18127230;1847994;23446738;23690594;24906252;2649896;27496565;28171705;28510447;28557628;31844290;3202875;32102983;33592498;3366244;33912179;34087483;3525564;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "Converts big endothelin-1 to endothelin-1. Also involved in the processing of various neuroendocrine peptides, including neurotensin, angiotensin I, substance P, proenkephalin-derived peptides, and prodynorphin-derived peptides. May play a role in amyloid-beta processing (By similarity)., [UniProtKB, PubMed, UniProtKB]; ECE-2 and ECE-1 levels are significantly reduced in post-mortem brain from dementia with Lewy body patients., [RefSeq, PubMed]; Identification of Alzheimer's disease-associated rare coding variants in the ECE2 gene. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; The most significantly downregulated gene in this data set was the endothelin converting enzyme 2 (ECE2), implicated in amyloid beta clearance., [RefSeq, PubMed]; This is the first report of ECE-2 being an autoantigen in humans. We have identified ECE-2 as a specific autoantigen in APS1 with a restricted neuroendocrine distribution., [RefSeq, PubMed]", "predicted_glycosites": 9, "predicted_n_glycosites": 9, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A5PLK8;O60344;Q6NTG7;Q6UW36;Q8NFD7;Q96NX3;Q96NX4;Q9BRZ8", "ec_number_list": "3.4.24.71", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding;GO:0008168 methyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0030658 transport vesicle membrane;GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007267 cell-cell signaling;GO:0016485 protein processing;GO:0016486 peptide hormone processing;GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "P0DPD6-4", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DPD7-4", "uniprot_id": "EFMT4_HUMAN", "mass": 28306.0, "length": 255, "protein_name": "EEF1A lysine methyltransferase 4", "gene_name": "EEF1AKMT4", "organism": "Human", "refseq_name": "EEF1A lysine methyltransferase 4", "refseq_ac": "NP_115707", "gene_names_uniprotkb": "EEF1AKMT4", "gene_names_refseq": "EEF1AKMT4", "protein_names_uniprotkb": "EEF1A lysine methyltransferase 4; 2.1.1.-", "protein_names_refseq": "EEF1A lysine methyltransferase 4; eukaryotic translation elongation factor 1 alpha lysine specific methyltransferase 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:110599564)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "15592455;19089949;26992070;28510447;28520920;28832583;28834231;29242379;31844290;32357974;32387766;33141586;33298915;33537174;33912179;33936100", "class_list": "", "function": "Methylation of lysine (K36) in eukaryotic elongation factor alpha (eEF1A) proteins is dependent on EEF1A lysine methyltransferase 4 (eEF1A-KMT4) in vivo., [RefSeq, PubMed]; Protein-lysine methyltransferase that efficiently catalyzes three successive methylations on 'Lys-36' in eukaryotic translation elongation factor 1 alpha (EEF1A1 or EEF1A2)., [UniProtKB, PubMed]; This gene encodes a member of the lysine-specific methyltransferase (KMT) family. The encoded enzyme catalyzes the methylation of lysine-36 of the eukaryotic translation elongation factor 1 alpha. Methylation by this enzyme may affect endoplasmic reticulum-related processes. [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "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": "A5PLK8;O60344;Q6NTG7;Q6UW36;Q8NFD7;Q96NX3;Q96NX4;Q9BRZ8", "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:0008168 methyltransferase activity;GO:0016279 protein-lysine N-methyltransferase activity", "go_cellular_component": "", "go_biological_process": "GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "P0DPD7-4", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DPD8-1", "uniprot_id": "EFCE2_HUMAN", "mass": 99773.0, "length": 883, "protein_name": "EEF1AKMT4-ECE2 readthrough transcript protein", "gene_name": "EEF1AKMT4-ECE2", "organism": "Human", "refseq_name": "EEF1AKMT4-ECE2 readthrough transcript protein", "refseq_ac": "NP_055508", "gene_names_uniprotkb": "EEF1AKMT4-ECE2", "gene_names_refseq": "EEF1AKMT4-ECE2", "protein_names_uniprotkb": "EEF1AKMT4-ECE2 readthrough transcript protein; 3.4.24.71", "protein_names_refseq": "EEF1AKMT4-ECE2 readthrough transcript protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:110599583); (hsa:9718)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "11718899;15592455;27920218;28228285;28510447;28832583;29557506;30315122;30429286;31844290;33968037;34211107;34509645;35051231;35580925;36241641;38253038", "class_list": "", "function": "Converts big endothelin-1 to endothelin-1. May also have methyltransferase activity (By similarity). May play a role in amyloid-beta processing (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; This gene represents naturally occurring readthrough transcription between adjacent genes eukaryotic translation elongation factor 1 alpha lysine methyltransferase 4 (GeneID: 110599564) and endothelin converting enzyme 2 (GeneID:9718). The readthrough transcript representing this gene encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jul 2017]., [RefSeq]", "predicted_glycosites": 9, "predicted_n_glycosites": 9, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A5PLK8;O60344;Q6NTG7;Q6UW36;Q8NFD7;Q96NX3;Q96NX4;Q9BRZ8", "ec_number_list": "", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding;GO:0008168 methyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0030658 transport vesicle membrane", "go_biological_process": "GO:0007507 heart development;GO:0016485 protein processing;GO:0016486 peptide hormone processing;GO:0007420 brain development;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "P0DPD8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DPH8-1", "uniprot_id": "TBA3D_HUMAN", "mass": 49960.0, "length": 450, "protein_name": "Tubulin alpha-3D chain", "gene_name": "TUBA3D", "organism": "Human", "refseq_name": "tubulin alpha-3D chain", "refseq_ac": "NP_525125", "gene_names_uniprotkb": "TUBA3D", "gene_names_refseq": "H2-ALPHA; KTCN9; TUBA2; TUBA3D", "protein_names_uniprotkb": "Tubulin alpha-3D chain; 3.6.5.-; Alpha-tubulin 3D", "protein_names_refseq": "Alpha-tubulin 3C; Tubulin alpha-3C chain; alpha-tubulin 3D; alpha-tubulin isotype H2-alpha; tubulin alpha-2 chain; tubulin alpha-3C/D chain; tubulin alpha-3D chain", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); polymicrogyria (Disease Ontology:DOID:0080918); lissencephaly 3 (Disease Ontology:DOID:0112232); microlissencephaly (Disease Ontology:DOID:0112234); keratoconus (Disease Ontology:DOID:10126); keratoconus 9 (MONDO:MONDO:0054771)", "pathway": " (hsa:113457); (hsa:7278); (R-HSA-1445148); (R-HSA-190840); (R-HSA-190861); (R-HSA-2132295); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-3371497); (R-HSA-380320); (R-HSA-389957); (R-HSA-389960); (R-HSA-389977); (R-HSA-437239); (R-HSA-5610787); (R-HSA-5620920); (R-HSA-5620924); (R-HSA-5626467); (R-HSA-5663220); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-6811436); (R-HSA-68877); (R-HSA-8852276); (R-HSA-8955332); (R-HSA-9609690); (R-HSA-9609736); (R-HSA-9619483); (R-HSA-9646399); (R-HSA-9648025); (R-HSA-9668328); (R-HSA-983189); (R-HSA-9833482)", "pathway_count": 33, "publication_count": 745, "publication_id_list": 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"class_list": "", "function": "TUBA3D is a new gene that causes keratoconus.The c.31 C > T (Gln11stop) and c.201insTT (Val68Leufs*2) mutations lead to TUBA3D degradation and higher matrix metalloproteinases expression in cornea fibroblasts. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the alpha tubulin family. Tubulin is a major component of microtubules, which are composed of alpha- and beta-tubulin heterodimers and microtubule-associated proteins in the cytoskeleton. Microtubules maintain cellular structure, function in intracellular transport, and play a role in spindle formation during mitosis. [provided by RefSeq, Oct 2011]., [RefSeq]; Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 12, "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": "A6NJQ0;Q13748;Q5W099;Q6PEY3;Q96F18", "ec_number_list": "3.6.5.-;3.6.5.2;6.3.2.-;3.6.5.3;3.6.5.5;2.7.11.21;2.7.11.1;2.3.1.-;5.6.1.3;3.6.1.5;2.7.11.22;2.7.11.23;3.6.4.10;5.6.1.6;2.7.11.11;3.6.1.-;2.7.10.2;3.1.3.16;2.7.11.26;2.3.2.-;2.7.11.31;3.6.4.-;3.6.5.4;5.2.1.8;2.4.1.41;3.4.22.49;5.3.99.3;3.6.4.12;2.3.1.108;3.4.17.-;3.4.17.24;3.4.17.17;3.6.-.-;6.3.2.25;2.7.11.38;2.7.11.34;3.1.2.-;3.5.1.-;3.5.1.124;3.6.1.15;6.-.-.-;5.6.1.1;3.6.1.6;3.6.1.42;3.1.11.-", "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005525 GTP binding;GO:0016787 hydrolase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005929 cilium;GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0000278 mitotic cell 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Similar to other adenylate kinases, preferentially catalyzes the phosphorylation of the nucleoside monophosphate AMP with ATP as phosphate donor to produce ADP. Phosphorylates only AMP when using GTP as phosphate donor. In vitro, can also catalyze the phosphorylation of CMP, dAMP and dCMP and use GTP as an alternate phosphate donor. Moreover, exhibits a diphosphate kinase activity, producing ATP, CTP, GTP, UTP, TTP, dATP, dCTP and dGTP from the corresponding diphosphate substrates with either ATP or GTP as phosphate donors. Plays a role in controlling cellular ATP levels by regulating phosphorylation and activation of the energy sensor protein kinase AMPK. Plays a protective role in the cellular response to oxidative stress., [UniProtKB, UniProtKB]; Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Efficiently phosphorylates AMP and dAMP using ATP as phosphate donor, but phosphorylates only AMP when using GTP as phosphate donor. Also displays broad nucleoside diphosphate kinase activity., [UniProtKB, HAMAP]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "2.7.4.10;2.7.4.6;2.7.4.3;2.7.4.4;3.1.11.-;2.7.11.1;2.7.13.3;2.7.4.18;3.1.24.-;2.7.4.14", "go_molecular_function": "GO:0004017 AMP kinase activity;GO:0046899 nucleoside triphosphate adenylate kinase activity;GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0004550 nucleoside diphosphate kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006172 ADP biosynthetic process;GO:0046033 AMP metabolic process;GO:0046034 ATP metabolic process;GO:0046039 GTP metabolic process;GO:0009142 nucleoside triphosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A8I5KW96-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A494C0Y3-1", "uniprot_id": "F246A_HUMAN", "mass": 24283.0, "length": 232, "protein_name": "Protein FAM246A", "gene_name": "FAM246A", "organism": "Human", "refseq_name": "protein FAM246A", "refseq_ac": "NP_001382954", "gene_names_uniprotkb": "FAM246A", "gene_names_refseq": "FAM246A", "protein_names_uniprotkb": "Protein FAM246A", "protein_names_refseq": "protein FAM246A", "tax_id": 9606, "disease": "", "pathway": " (hsa:117134598)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A494C0Y3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A494C103-1", "uniprot_id": "SPADH_HUMAN", "mass": 15323.0, "length": 137, "protein_name": "CUB domain-containing protein", "gene_name": "SPADH", "organism": "Human", "refseq_name": "CUB domain-containing protein precursor", "refseq_ac": "NP_001351390", "gene_names_uniprotkb": "SPADH", "gene_names_refseq": "SPADH", "protein_names_uniprotkb": "CUB domain-containing protein", "protein_names_refseq": "CUB domain-containing protein precursor; CUB domain-containing protein; carbohydrate-binding protein AQN-1-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:112577516)", "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": "A0A494C103-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A494C176-1", "uniprot_id": "A0A494C176_HUMAN", "mass": 7149.0, "length": 62, "protein_name": "Uncharacterized protein", "gene_name": "LOC128092250", "organism": "Human", "refseq_name": "uncharacterized LOC128092250 precursor", "refseq_ac": "NP_001401864", "gene_names_uniprotkb": "LOC128092250", "gene_names_refseq": "LOC128092250", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "uncharacterized LOC128092250 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:128092250)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A494C176-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DQD5-1", "uniprot_id": "NPY42_HUMAN", "mass": 42195.0, "length": 375, "protein_name": "Neuropeptide Y receptor type 4-2", "gene_name": "NPY4R2", "organism": "Human", "refseq_name": "neuropeptide Y receptor type 4-2", "refseq_ac": "NP_001265724", "gene_names_uniprotkb": "NPY4R2", "gene_names_refseq": "CH17-360D5.1; NPY4R2; PP1; PPYR1", "protein_names_uniprotkb": "Neuropeptide Y receptor type 4-2", "protein_names_refseq": "Pancreatic polypeptide receptor 1; neuropeptide Y receptor Y42; neuropeptide Y receptor type 4-2", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:100996758)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "G protein-coupled receptor for PPY/pancreatic polypeptide/PP, NPY/neuropeptide Y and PYY/peptide YY that is negatively coupled to cAMP. The rank order of affinity for these polypeptides and their derivatives is PP, PP (2-36) and [Ile-31, Gln-34] PP > [Pro-34] PYY > PYY and [Leu-31, Pro-34] NPY > NPY > PYY (3-36) and NPY (2-36) > PP (13-36) > PP (31-36) > NPY free acid., [UniProtKB, UniProtKB]", "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": 17, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0001601 peptide YY receptor activity;GO:0001602 pancreatic polypeptide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0007218 neuropeptide signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DQD5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DSN7-1", "uniprot_id": "KVD37_HUMAN", "mass": 12688.0, "length": 117, "protein_name": "Probable non-functional immunoglobulin kappa variable 1D-37", "gene_name": "IGKV1D-37", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGKV1D-37", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional immunoglobulin kappa variable 1D-37", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11340299;17576170;20176268;22158414;24600447;9619395", "class_list": "immunoglobin", "function": "Probable non-functional open reading frame (ORF) of V region of the variable domain of immunoglobulin light chains (PubMed:24600447). Non-functional ORF generally cannot participate in the synthesis of a productive immunoglobulin chain due to altered V-(D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level) (PubMed:9619395). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 115, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "P0DSN7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DTF9-1", "uniprot_id": "PTIP2_HUMAN", "mass": 18282.0, "length": 154, "protein_name": "PTTG1IP family member 2", "gene_name": "PTTG1IP2", "organism": "Human", "refseq_name": "PTTG1IP family member 2 precursor", "refseq_ac": "NP_001352372", "gene_names_uniprotkb": "PTTG1IP2", "gene_names_refseq": "PTTG1IP2", "protein_names_uniprotkb": "PTTG1IP family member 2", "protein_names_refseq": "PTTG1IP family member 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:102723899)", "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": "P0DTF9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "B0L3A2-1", "uniprot_id": "DESPR_HUMAN", "mass": 9677.0, "length": 85, "protein_name": "Dual endothelin-1/VEGF signal peptide receptor", "gene_name": "FBXW7-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "FBXW7-AS1; DEAR; DEspR", "gene_names_refseq": "", "protein_names_uniprotkb": "Dual endothelin-1/VEGF signal peptide receptor; DEspR protein; Dual endothelin-1/VEGFsp receptor; FBXW7 antisense RNA 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "17446437;24465725;27301377;33853558", "class_list": "", "function": "Dual receptor for both endothelin-1 and the signal sequence of vascular endothelial growth factor A (PubMed:17446437, PubMed:24465725). Does not act as a receptor for angiotensin-2 (PubMed:17446437). Does not bind the VEGFA mature protein (By similarity). May play a role in angiogenesis with a significant role in cardiovascular and neural development (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": 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:0004962 endothelin receptor activity;GO:0038085 vascular endothelial growth factor binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0086100 endothelin receptor signaling pathway;GO:0038084 vascular endothelial growth factor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "B0L3A2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A7I2V4U8-1", "uniprot_id": "A0A7I2V4U8_HUMAN", "mass": 3146.0, "length": 25, "protein_name": "Uncharacterized protein", "gene_name": "LOC128031834", "organism": "Human", "refseq_name": "uncharacterized LOC128031834", "refseq_ac": "NP_001401660", "gene_names_uniprotkb": "LOC128031834", "gene_names_refseq": "LOC128031834", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "uncharacterized LOC128031834", "tax_id": 9606, "disease": "", "pathway": " (hsa:128031834)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;32938616", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A0A7I2V4U8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A2U3TZM8-1", "uniprot_id": "A0A2U3TZM8_HUMAN", "mass": 28887.0, "length": 278, "protein_name": "Uncharacterized protein", "gene_name": "LOC112694756", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LOC112694756", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:112694756)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "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": 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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A2U3TZM8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DPF3-1", "uniprot_id": "NBPF9_HUMAN", "mass": 127756.0, "length": 1111, "protein_name": "NBPF family member NBPF9", "gene_name": "NBPF9", "organism": "Human", "refseq_name": "NBPF family member NBPF9 isoform 2", "refseq_ac": "NP_001032764", "gene_names_uniprotkb": "NBPF9", "gene_names_refseq": "AE01; NBPF9", "protein_names_uniprotkb": "NBPF family member NBPF9; Neuroblastoma breakpoint family member 9", "protein_names_refseq": "NBPF family member NBPF9 isoform 2; NBPF family member NBPF9; neuroblastoma breakpoint family member 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:400818)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;16079250;32502341;33537174;34185709;35580925;36284347", "class_list": "", "function": "This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0A075B761;A0A087WVA0;A0A087WY26;Q3BBV1;Q3BBW0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P0DPF3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A7P0TAN4-1", "uniprot_id": "A0A7P0TAN4_HUMAN", "mass": 74143.0, "length": 641, "protein_name": "Uncharacterized protein", "gene_name": "LOC122539214", "organism": "Human", "refseq_name": "Zinc finger protein LOC122539214", "refseq_ac": "NP_001382945", "gene_names_uniprotkb": "LOC122539214", "gene_names_refseq": "LOC122539214", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "Zinc finger protein LOC122539214", "tax_id": 9606, "disease": "", "pathway": " (hsa:122539214)", "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:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A7P0TAN4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "G9CGD6-1", "uniprot_id": "CNIPF_HUMAN", "mass": 100365.0, "length": 899, "protein_name": "CNK3/IPCEF1 fusion protein", "gene_name": "IPCEF1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IPCEF1", "gene_names_refseq": "", "protein_names_uniprotkb": "CNK3/IPCEF1 fusion protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 17, "publication_id_list": "22085542;23186163;23481700;24275569;27600516;31844290;32157095;32350084;32387766;32897882;32938616;33968037;34932366;35051231;35154160;35580925;36010968", "class_list": "", "function": "Required for hepatocyte growth factor (HGF)-dependent activation of Arf6 and HGF-stimulated cell migration., [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": 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": "G9CGD3;G9CGD4", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0009966 regulation of signal transduction;GO:2001114 positive regulation of cellular response to hepatocyte growth factor stimulus;GO:0007167 enzyme-linked receptor protein signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "G9CGD6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DPH9-1", "uniprot_id": "CX05B_HUMAN", "mass": 12028.0, "length": 108, "protein_name": "Uncharacterized protein CXorf51B", "gene_name": "CXorf51B", "organism": "Human", "refseq_name": "uncharacterized protein CXorf51A", "refseq_ac": "NP_001137536", "gene_names_uniprotkb": "CXorf51B", "gene_names_refseq": "CXorf51A; CXorf51B; CXorf51", "protein_names_uniprotkb": "Uncharacterized protein CXorf51B", "protein_names_refseq": "Uncharacterized protein CXorf51B; uncharacterized protein CXorf51A", "tax_id": 9606, "disease": "", "pathway": " (hsa:100129239); (hsa:100133053)", "pathway_count": 2, "publication_count": 1, "publication_id_list": "34415548", "class_list": "", "function": "Backbone and nearly complete side-chain chemical shift assignments reveal the human uncharacterized protein CXorf51A as intrinsically disordered., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "P0DPH9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DPE3-1", "uniprot_id": "TMDD1_HUMAN", "mass": 33577.0, "length": 317, "protein_name": "Transmembrane and death domain protein 1", "gene_name": "TMDD1", "organism": "Human", "refseq_name": "transmembrane and death domain protein 1 precursor", "refseq_ac": "NP_001373666", "gene_names_uniprotkb": "TMDD1; C12orf81", "gene_names_refseq": "C12orf81; TMDD1; hCG1648055", "protein_names_uniprotkb": "Transmembrane and death domain protein 1", "protein_names_refseq": "Uncharacterized protein C12orf81; transmembrane and death domain protein 1 precursor; transmembrane and death domain protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:112163659)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "35051231", "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": 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_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0DPE3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DPI3-1", "uniprot_id": "CENL2_HUMAN", "mass": 29887.0, "length": 272, "protein_name": "Centromere protein V-like protein 2", "gene_name": "CENPVL2", "organism": "Human", "refseq_name": "centromere protein V-like protein 2", "refseq_ac": "NP_001342207", "gene_names_uniprotkb": "CENPVL2; CENPVP2", "gene_names_refseq": "CENPVL2; CENPVP2", "protein_names_uniprotkb": "Centromere protein V-like protein 2; Centromere protein V pseudogene 2", "protein_names_refseq": "centromere protein V-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:441495)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0016846 carbon-sulfur lyase activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DPI3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A024RBG1-1", "uniprot_id": "NUD4B_HUMAN", "mass": 20434.0, "length": 181, "protein_name": "Diphosphoinositol polyphosphate phosphohydrolase NUDT4B", "gene_name": "NUDT4B", "organism": "Human", "refseq_name": "diphosphoinositol polyphosphate phosphohydrolase NUDT4B", "refseq_ac": "NP_001342336", "gene_names_uniprotkb": "NUDT4B", "gene_names_refseq": "DIPP-2B; NUDT4B; NUDT4P1", "protein_names_uniprotkb": "Diphosphoinositol polyphosphate phosphohydrolase NUDT4B; 3.6.1.52; DIPP-2B; Nucleoside diphosphate-linked moiety X motif 4B; Nudix hydrolase 4B; Nudix motif 4B", "protein_names_refseq": "diphosphoinositol polyphosphate phosphohydrolase NUDT4B; nucleoside diphosphate-linked moiety X motif 4B; nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 1; nudix motif 4B", "tax_id": 9606, "disease": "", "pathway": " (hsa:440672)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "30429286;31844290;32488085;38665916", "class_list": "", "function": "Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), PP-InsP4 and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphate Ap6A, but not Ap5A. The major reaction products are ADP and p4a from Ap6A. Also able to hydrolyze 5-phosphoribose 1-diphosphate. Does not play a role in U8 snoRNA decapping activity. Binds U8 snoRNA., [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": 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:0000298 endopolyphosphatase activity;GO:0008486 diphosphoinositol-polyphosphate diphosphatase activity;GO:0034431 bis(5'-adenosyl)-hexaphosphatase activity;GO:0034432 bis(5'-adenosyl)-pentaphosphatase activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0071543 diphosphoinositol polyphosphate metabolic process;GO:1901907 diadenosine pentaphosphate catabolic process;GO:1901909 diadenosine hexaphosphate catabolic process;GO:1901911 adenosine 5'-(hexahydrogen pentaphosphate) catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0A024RBG1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A2R8Y747-1", "uniprot_id": "A0A2R8Y747_HUMAN", "mass": 15779.0, "length": 149, "protein_name": 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0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0033038 bitter taste receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DSN6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DTE4-5", "uniprot_id": "UD2A1_HUMAN", "mass": 59963.0, "length": 527, "protein_name": "UDP-glucuronosyltransferase 2A1", "gene_name": "UGT2A1", "organism": "Human", "refseq_name": "UDP-glucuronosyltransferase 2A1 isoform 2 precursor", "refseq_ac": "NP_001239203", "gene_names_uniprotkb": "UGT2A1", "gene_names_refseq": "UDPGT2A1; UGT2A1", "protein_names_uniprotkb": "UDP-glucuronosyltransferase 2A1; 2.4.1.17; UDPGT 2A1; UGT2A1", "protein_names_refseq": "UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus; UDP glycosyltransferase 2 family, polypeptide A1; UDP-glucuronosyltransferase 2A1 isoform 2 precursor; UDP-glucuronosyltransferase 2A1; uridine diphosphate glycosyltransferase 2 family, member A1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10941); (R-HSA-156588); (R-HSA-9749641)", "pathway_count": 3, "publication_count": 53, "publication_id_list": "10220572;10359671;10434065;11581266;12433823;12616642;1339448;13741103;14570768;15135306;16258079;16837570;16858120;16943252;17482904;1783992;18052085;18719240;19022937;19545173;19836360;19858781;22294686;22674043;22984225;23288867;23756265;25840124;26220143;27556486;28677105;29635252;3082969;30850392;3342084;35039640;35494241;3705620;4639028;5013373;5773090;5862532;6654901;6777177;6796486;6838677;7206363;7802672;8027054;8687483;9144407;931988;975718", "class_list": "glycogene;glycosyltransferase", "function": "Association of SNPs of PEAR1, P2Y12, and UGT2A1 with platelet reactivity in 290 Chinese patients with acute coronary syndrome treated with aspirin and clopidogrel, [RefSeq, PubMed]; Expression of novel UDP-glucuronosyltransferase 2A1 splice variant could play an important role in the detoxification of carcinogens within target tissues for tobacco carcinogenesis., [RefSeq, PubMed]; Regulation of UGT2A1 by miR-196a-5p and miR-196b-5p, [RefSeq, PubMed]; Results show that UGT2A2 not only shares exons 2-6 with UGT2A1, it also shares with it a similar tissue expression pattern; both UGTs are primarily expressed in nasal epithelium. The 3rd member of UGT2A subfamily, UGT2A3 exhibited a different tissue expression pattern, found mainly in liver and small intestine., [RefSeq, PubMed]; The Km values of UGT2A1 varied between 102.2 +/- 14.3 microM and 2.4 +/- 1.2 mM., [RefSeq, PubMed]; The UGT2A1/UGT2A2 locus is associated with COVID-19-related loss of smell or taste., [RefSeq, PubMed]; The protein encoded by this gene belongs to the UDP-glycosyltransferase family. Members of this protein family play a role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. The encoded enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. This gene shares exon structure with the UDP glucuronosyltransferase 2A2 family member, which encodes N-terminally distinct isoforms. Polymorphisms in this gene may be associated with the loss of taste and smell that is reported by some individuals during SARS-CoV-2 infection. [provided by RefSeq, Jan 2022]., [RefSeq]; UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:10359671, PubMed:18719240, PubMed:19022937, PubMed:19858781, PubMed:23288867, PubMed:23756265). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:10359671, PubMed:19858781, PubMed:23756265). Catalyzes the glucuronidation of endogenous steroid hormones such as androgens (testosterone and epitestosterone) and estrogens (estradiol and epiestriol) (PubMed:18719240, PubMed:19022937, PubMed:19858781, PubMed:23288867). Contributes to bile acid (BA) detoxification by catalyzing the glucuronidation of BA substrates, which are natural detergents for dietary lipids absorption (PubMed:23756265). Shows a high affinity to aliphatic odorants such as citronellol as well as olfactory tissue specificity, and therefore may be involved in olfaction (PubMed:10359671). Shows a potential role in detoxification of toxic waste compounds in the amniotic fluid before birth, and air-born chemical after birth (PubMed:19858781)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 778, "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": "B4E2F4;D3GER1;D3GER2;E9PDM7;J3KNA3;Q9Y4X1", "ec_number_list": "2.4.1.17;2.4.1.170;2.4.1.185", "go_molecular_function": "GO:0015020 glucuronosyltransferase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006805 xenobiotic metabolic process;GO:0008206 bile acid metabolic process;GO:0007608 sensory perception of smell;GO:0007606 sensory perception of chemical stimulus;GO:0009608 response to symbiont", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "P0DTE4-5", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DSO3-1", "uniprot_id": "GAGE4_HUMAN", "mass": 12956.0, "length": 117, "protein_name": "G antigen 4", "gene_name": "GAGE4", "organism": "Human", "refseq_name": "G antigen 4", "refseq_ac": "NP_001465", "gene_names_uniprotkb": "GAGE4", "gene_names_refseq": "CT4.4; GAGE-4; GAGE4", "protein_names_uniprotkb": "G antigen 4; CT4.4; Cancer/testis antigen 4.4", "protein_names_refseq": "G antigen 4; cancer/testis antigen 4.4; cancer/testis antigen family 4, member 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:2576)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "10397259;18669648;7544395", "class_list": "", "function": "Antigen, recognized on melanoma by autologous cytolytic T-lymphocytes., [UniProtKB, PubMed]; This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A8MU85;Q13065;Q13068;Q6NT33", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "P0DSO3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DUB6-1", "uniprot_id": "AMY1A_HUMAN", "mass": 57768.0, "length": 511, "protein_name": "Alpha-amylase 1A", "gene_name": "AMY1A", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "AMY1A; AMY1", "gene_names_refseq": "", "protein_names_uniprotkb": "Alpha-amylase 1A; 1,4-alpha-D-glucan glucanohydrolase 1; 3.2.1.1; Salivary alpha-amylase", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:276); (hsa:277); (hsa:278); (R-HSA-189085)", "pathway_count": 4, "publication_count": 36, "publication_id_list": "10769135;11085997;12527308;12547908;12692040;14616060;15299664;16584180;16740002;1697585;1710976;18824549;19241384;19435888;19955176;20068231;20356844;2423416;2442579;2452973;29393594;29557506;3227291;3800897;3897250;4737205;5104075;6466686;6610603;7487100;7836450;7906143;807575;8951031;9427547;9446624", "class_list": "", "function": "Calcium-binding enzyme that initiates starch digestion in the oral cavity (PubMed:12527308). Catalyzes the hydrolysis of internal (1->4)-alpha-D-glucosidic bonds, yielding a mixture of maltose, isomaltose, small amounts of glucose as well as small linear and branched oligosaccharides called dextrins (PubMed:12527308)., [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": 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": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NJS5;A8K8H6;P04745;Q13763;Q5T083", "ec_number_list": "3.2.1.1", "go_molecular_function": "GO:0031404 chloride ion binding;GO:0005509 calcium ion binding;GO:0004556 alpha-amylase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0009311 oligosaccharide metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "P0DUB6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DTE8-1", "uniprot_id": "AMY1C_HUMAN", "mass": 57768.0, "length": 511, "protein_name": "Alpha-amylase 1C", "gene_name": "AMY1C", "organism": "Human", "refseq_name": "alpha-amylase 1B precursor", "refseq_ac": "NP_001008219", "gene_names_uniprotkb": "AMY1C; AMY1", "gene_names_refseq": "AMY1B; AMY1", "protein_names_uniprotkb": "Alpha-amylase 1C; 3.2.1.1", "protein_names_refseq": "1,4-alpha-D-glucan glucanohydrolase 1; alpha-amylase 1A; alpha-amylase 1B precursor; alpha-amylase 1B; alpha-amylase 1; amylase alpha 1B (salivary); amylase, salivary, alpha-1B; glycogenase; salivary alpha-amylase; salivary amylase alpha 1B", "tax_id": 9606, "disease": "", "pathway": " (hsa:276); (hsa:277); (hsa:278); (R-HSA-189085)", "pathway_count": 4, "publication_count": 38, "publication_id_list": "10769135;11085997;11237011;12527308;12547908;12692040;14616060;15299664;16584180;16740002;1697585;1710976;18824549;19241384;19435888;19955176;20356844;2452973;28219410;30982860;3227291;32697825;32983136;35051231;36241641;3800897;3897250;4737205;5104075;6155378;6466686;7487100;7836450;7906143;807575;8951031;9427547;9446624", "class_list": "glycogene;glycosylhydrolase", "function": "AMY1 Gene Copy Number Correlates With Glucose Absorption and Visceral Fat Volume, but Not with Insulin Resistance., [RefSeq, PubMed]; AMY1 copy number was significantly correlated with the variation observed in salivary amylase production and enzyme activity but did not explain the majority of observed variation between individuals. AMY1-odd and AMY1-even haplotypes showed a different relationship between copy number and expression levels, but the difference was not statistically significant. Publication Status: Online-Only, [RefSeq, PubMed]; Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq, Jul 2008]., [RefSeq]; At baseline, a modest association between AMY1 gene copy number and BMI (P = 0.04) was observed but AMY1 gene copy was not associated with baseline glycemic variables., [RefSeq, PubMed]; Calcium-binding enzyme that initiates starch digestion in the oral cavity (PubMed:12527308). Catalyzes the hydrolysis of internal (1->4)-alpha-D-glucosidic bonds, yielding a mixture of maltose, isomaltose, small amounts of glucose as well as small linear and branched oligosaccharides called dextrins (PubMed:12527308)., [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": 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": 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": 4, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 204, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NJS5;A8K8H6;P04745;Q13763;Q5T083", "ec_number_list": "3.2.1.1", "go_molecular_function": "GO:0031404 chloride ion binding;GO:0005509 calcium ion binding;GO:0004556 alpha-amylase activity;GO:0043169 cation binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0009311 oligosaccharide metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "P0DTE8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A6Q8PGZ7-1", "uniprot_id": "A0A6Q8PGZ7_HUMAN", "mass": 3721.0, "length": 32, "protein_name": "Uncharacterized protein", "gene_name": "LOC128031836", "organism": "Human", "refseq_name": "uncharacterized LOC128031836", "refseq_ac": "NP_001401667", "gene_names_uniprotkb": "LOC128031836", "gene_names_refseq": "LOC128031836", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "uncharacterized LOC128031836", "tax_id": 9606, "disease": "", "pathway": " (hsa:128031836)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A6Q8PGZ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A669KB60-1", "uniprot_id": "A0A669KB60_HUMAN", "mass": 3785.0, "length": 32, "protein_name": "Uncharacterized protein", "gene_name": "LOC128092248", "organism": "Human", "refseq_name": "umcharacterized LOC128092248", "refseq_ac": "NP_001401830", "gene_names_uniprotkb": "LOC128092248", "gene_names_refseq": "LOC128092248", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "umcharacterized LOC128092248", "tax_id": 9606, "disease": "", "pathway": " (hsa:128092248)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A669KB60-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A6Q8PFD8-1", "uniprot_id": "A0A6Q8PFD8_HUMAN", "mass": 4687.0, "length": 39, "protein_name": "Uncharacterized protein", "gene_name": "LOC128092246", "organism": "Human", "refseq_name": "uncharacterized LOC128092246", "refseq_ac": "NP_001401826", "gene_names_uniprotkb": "LOC128092246", "gene_names_refseq": "LOC128092246", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "uncharacterized LOC128092246", "tax_id": 9606, "disease": "", "pathway": " (hsa:128092246)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A6Q8PFD8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A6Q8PH20-1", "uniprot_id": "A0A6Q8PH20_HUMAN", "mass": 80999.0, "length": 754, "protein_name": "Calpastatin", "gene_name": "CAST", "organism": "Human", "refseq_name": "calpastatin isoform x", "refseq_ac": "NP_001362246", "gene_names_uniprotkb": "CAST", "gene_names_refseq": "BS-17; CAST; MIR583HG; PLACK", "protein_names_uniprotkb": "Calpastatin; Calpain inhibitor", "protein_names_refseq": "MIR583 host; calpain inhibitor; calpastatin isoform x; sperm BS-17 component", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 11, "publication_id_list": "11237011;17081983;19651622;20068231;25218447;30429286;34191270;34440632;35580925;37387535;39186261", "class_list": "", "function": "Critical Roles of Calpastatin in Ischemia/Reperfusion Injury in Aged Livers. Publication Status: Online-Only, [RefSeq, PubMed]; Gene-Environment Interaction Between CAST Gene and Eye-Rubbing in the Chinese Keratoconus Cohort Study: A Case-Only Study., [RefSeq, PubMed]; Novel nonsense CAST mutation in two siblings with PLACK syndrome., [RefSeq, PubMed]; Specific inhibition of calpain (calcium-dependent cysteine protease). Plays a key role in postmortem tenderization of meat and have been proposed to be involved in muscle protein degradation in living tissue., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]., [RefSeq]; Variants in Genes of Calpain System as Modifiers of Spinocerebellar Ataxia Type 3 Phenotype., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 21, "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:0004869 cysteine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "A0A6Q8PH20-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DTE2-1", "uniprot_id": "HV511_HUMAN", "mass": 13081.0, "length": 115, "protein_name": "Probable non-functional immunoglobulin heavy variable 8-51-1", "gene_name": "IGHV8-51-1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGHV8-51-1", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional immunoglobulin heavy variable 8-51-1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "11237011;11340299;17576170;20176268;22158414;24600447;9619395", "class_list": "immunoglobin", "function": "Probable non-functional open reading frame (ORF) of V region of the variable domain of immunoglobulin heavy chains (PubMed:24600447). Non-functional ORF generally cannot participate in the synthesis of a productive immunoglobulin chain due to altered V-(D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level) (PubMed:9619395). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268, PubMed:22158414, PubMed:24600447)., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0016064 immunoglobulin mediated immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P0DTE2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A8I5KQE6-1", "uniprot_id": "RPSA2_HUMAN", "mass": 32909.0, "length": 295, "protein_name": "Small ribosomal subunit protein uS2B", "gene_name": "RPSA2", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS2B", "refseq_ac": "NP_001342212", "gene_names_uniprotkb": "RPSA2; RPSAP58; RPSA", "gene_names_refseq": "37LRP; 67LR; LBP/p40; LRP/LR; LamR; RPSA2; RPSAP58; RPSA_30_1642", "protein_names_uniprotkb": "Small ribosomal subunit protein uS2B; 37 kDa laminin receptor precursor; 37/67 kDa laminin receptor; 37LRP; 40S ribosomal protein SA2; 40S ribosomal protein SA; 67 kDa laminin receptor; 67LR; LBP/p40; LRP/LR; LamR; Laminin receptor 1; Laminin-binding protein precursor p40", "protein_names_refseq": "37 kDa laminin receptor; 37/67 kDa laminin receptor; 40S ribosomal protein SA2; 67 kDa laminin receptor; laminin receptor 1; laminin-binding protein precursor p40; ribosomal protein SA pseudogene 58; small ribosomal subunit protein uS2B", "tax_id": 9606, "disease": "arrhythmogenic right ventricular dysplasia 5 (Disease Ontology:DOID:0110074); sciatic neuropathy (Disease Ontology:DOID:11446); Diamond-Blackfan anemia (Disease Ontology:DOID:1339); irritable bowel syndrome (Disease Ontology:DOID:9778)", "pathway": " (hsa:388524)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Required for the assembly and/or stability of the 40S ribosomal subunit. Required for the processing of the 20S rRNA-precursor to mature 18S rRNA in a late step of the maturation of 40S ribosomal subunits. Also functions as a cell surface receptor for laminin. Plays a role in cell adhesion to the basement membrane and in the consequent activation of signaling transduction pathways. May play a role in cell fate determination and tissue morphogenesis. Also acts as a receptor for several other ligands, including the pathogenic prion protein, viruses, and bacteria. Acts as a PPP1R16B-dependent substrate of PPP1CA., [UniProtKB, HAMAP]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0043236 laminin binding;GO:0005055 laminin receptor activity;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0022627 cytosolic small ribosomal subunit", "go_biological_process": "GO:0002181 cytoplasmic translation;GO:0000028 ribosomal small subunit assembly", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A8I5KQE6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A8I5KXM2-1", "uniprot_id": "A0A8I5KXM2_HUMAN", "mass": 15726.0, "length": 142, "protein_name": "Uncharacterized protein", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A8I5KXM2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A8I5KYW3-1", "uniprot_id": "A0A8I5KYW3_HUMAN", "mass": 2159.0, "length": 18, "protein_name": "Uncharacterized protein", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A8I5KYW3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DTU3-1", "uniprot_id": "TRAR2_HUMAN", "mass": 30989.0, "length": 275, "protein_name": "T cell receptor alpha chain MC.7.G5", "gene_name": "TRA", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRA", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha chain MC.7.G5; MC.7.G5 TRA; TR alpha chain TRAV38-2DV8*01J31*01C*01", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 17, "publication_id_list": "11096259;19568742;31959982;32157095;32897882;32938616;32983136;33912179;33968037;34211107;35051231;35580925;36284347;37938771;3873654;3875483;9110172", "class_list": "", "function": "The alpha chain of TRAV38-2DV8*01J31*01C*01/TRBV25-1*01J2S3*01C2*01 alpha-beta T cell receptor (TR) clonotype that displays pan-cancer cell recognition via the invariant MR1 molecule. On CD8-positive T cell clone MC.7.G5, likely recognizes tumor-specific or -associated metabolite(s) essential for cancer cell survival, triggering killing of many cancer cell types including lung, melanoma, leukemia, colon, breast, prostate, bone and ovarian cancer cells. Mediates cancer cell cytotoxicity in an HLA-independent manner. Has no reactivity to healthy cells, even stressed or infected by bacteria (PubMed:31959982). Antigen recognition initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn, ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell differentiation into effector/memory T cells (By similarity)., [UniProtKB, UniProtKB, 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0042105 alpha-beta T cell receptor complex", "go_biological_process": "GO:0009617 response to bacterium;GO:0002355 detection of tumor cell;GO:0002419 T cell mediated cytotoxicity directed against tumor cell target", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "P0DTU3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DTE0-1", "uniprot_id": "T2R36_HUMAN", "mass": 35420.0, "length": 309, "protein_name": "Putative taste receptor type 2 member 36", "gene_name": "TAS2R36", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TAS2R36", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative taste receptor type 2 member 36; T2R36; hGR36", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Putative taste receptor which may play a role in the perception of bitterness., [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": "", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0033038 bitter taste receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DTE0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DTU4-1", "uniprot_id": "TRBR2_HUMAN", "mass": 35490.0, "length": 315, "protein_name": "T cell receptor beta chain MC.7.G5", "gene_name": "TRB", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRB", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta chain MC.7.G5; MC.7.G5 TRB; TR beta chain TRBV25-1*01J2S3*01C2*01", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 14, "publication_id_list": "11096259;19568742;31959982;32157095;32967941;32983136;33298915;33717175;33912179;34932366;35051231;35580925;37938771;3860845", "class_list": "", "function": "The beta chain of TRAV38-2DV8*01J31*01C*01/TRBV25-1*01J2S3*01C2*01 alpha-beta T cell receptor (TR) clonotype that displays pan-cancer cell recognition via the invariant MR1 molecule. On CD8-positive T cell clone MC.7.G5, likely recognizes tumor-specific or -associated metabolite(s) essential for cancer cell survival, triggering killing of many cancer cell types including lung, melanoma, leukemia, colon, breast, prostate, bone and ovarian cancer cells. Mediates cancer cell cytotoxicity in an HLA-independent manner. Has no reactivity to healthy cells even stressed or infected by bacteria (PubMed:31959982). Antigen recognition initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn, ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell differentiation into effector/memory T cells (By similarity)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042105 alpha-beta T cell receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0050852 T cell receptor signaling pathway;GO:0002355 detection of tumor cell;GO:0002419 T cell mediated cytotoxicity directed against tumor cell target", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "P0DTU4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DUD3-1", "uniprot_id": "SPD14_HUMAN", "mass": 31467.0, "length": 265, "protein_name": "Speedy protein E14", "gene_name": "SPDYE14", "organism": "Human", "refseq_name": "speedy protein E14", "refseq_ac": "NP_001369423", "gene_names_uniprotkb": "SPDYE14", "gene_names_refseq": "SPDYE14P; SPDYE14", "protein_names_uniprotkb": "Speedy protein E14", "protein_names_refseq": "putative speedy protein E14; speedy protein E14", "tax_id": 9606, "disease": "", "pathway": " (hsa:641776)", "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:0019901 protein kinase binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DUD3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DTE1-1", "uniprot_id": "HV383_HUMAN", "mass": 12672.0, "length": 115, "protein_name": "Probable non-functional immunoglobulin heavy variable 3-38-3", "gene_name": "IGHV3-38-3", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGHV3-38-3; IGHV3-D", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional immunoglobulin heavy variable 3-38-3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "11340299;17576170;20176268;22158414;23541343;24600447;9619395", "class_list": "immunoglobin", "function": "Probable non-functional open reading frame (ORF) of V region of the variable domain of immunoglobulin heavy chains (PubMed:24600447). Non-functional ORF generally cannot participate in the synthesis of a productive immunoglobulin chain due to altered V-(D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level) (PubMed:9619395). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268, PubMed:22158414, PubMed:24600447)., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P0DTE1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DTW1-1", "uniprot_id": "GAGE1_HUMAN", "mass": 12885.0, "length": 117, "protein_name": "G antigen 1", "gene_name": "GAGE1", "organism": "Human", "refseq_name": "G antigen 1", "refseq_ac": "NP_001035753", "gene_names_uniprotkb": "GAGE1", "gene_names_refseq": "CT4.1; GAGE-1; GAGE1", "protein_names_uniprotkb": "G antigen 1; Antigen MZ2-F; CT4.1; Cancer/testis antigen 4.1; GAGE-1", "protein_names_refseq": "G antigen 1; G antigen 4; MZ2-F antigen; cancer/testis antigen 4.1; cancer/testis antigen family 4, member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:2543)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10397259;18179644;20423514;29577858;30103946;30297572;7544395", "class_list": "", "function": "Antigen, recognized on melanoma by autologous cytolytic T-lymphocytes., [UniProtKB, PubMed]; High GAGE1 expression is associated with metastasis in Head and Neck Squamous Cell Carcinoma., [RefSeq, PubMed]; The circ_0016760/miR-1287/GAGE1 signaling might play vital roles in the tumorigenesis and progression of Non-small cell lung cancer (NSCLC)., [RefSeq, PubMed]; These data illustrate that the GAGE1 protein exhibits moderate cancerrestricted pattern of expression and immunogenicity, laying the foundation for the application of GAGE1 in immunotherapy and for the diagnosis of HCC[hepatocellular carcinoma]., [RefSeq, PubMed]; This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. Nothing is presently known about the function of this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]., [RefSeq]; Tumor-specific antigen GAGE may play a role in the occurrence and development of ovarian cancer and can be used as one of the important indicators for early diagnosis, efficacy evaluation and prognostic determination of ovarian 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": 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": "A8MU85;Q13065;Q13068;Q6NT33", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P0DTW1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "C0HLZ6-1", "uniprot_id": "HAS3P_HUMAN", "mass": 5567.0, "length": 53, "protein_name": "HOXB-AS3 peptide", "gene_name": "HOXB-AS3", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "HOXB-AS3", "gene_names_refseq": "", "protein_names_uniprotkb": "HOXB-AS3 peptide", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "28985503;34457052", "class_list": "", "function": "Blocks the binding of HNRNPA1 to the intronic sequences flanking exon 9 of the PKM gene by competitively binding to the HNRNPA1 RGG-box motif (PubMed:28985503). This inhibits inclusion of exon 9 and promotes inclusion of exon 10, suppressing formation of the PKM M2 isoform and promoting production of the M1 isoform (PubMed:28985503). Also suppresses HNRNPA1-mediated processing of microRNA 18a (miR-18a) (PubMed:28985503). Promotes MYC stability through interaction with IGF2BP2 (PubMed:34457052)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0006397 mRNA processing;GO:0050821 protein stabilization;GO:0008380 RNA splicing;GO:0043484 regulation of RNA splicing;GO:2000632 negative regulation of pre-miRNA processing", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "C0HLZ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A6Q8PFQ6-1", "uniprot_id": "A0A6Q8PFQ6_HUMAN", "mass": 1773.0, "length": 16, "protein_name": "Uncharacterized protein", "gene_name": "LOC128092247", "organism": "Human", "refseq_name": "uncharacterized LOC128092247", "refseq_ac": "NP_001401827", "gene_names_uniprotkb": "LOC128092247", "gene_names_refseq": "LOC128092247; SLC4A2uORF", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "uncharacterized LOC128092247", "tax_id": 9606, "disease": "", "pathway": " (hsa:128092247)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A6Q8PFQ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A6Q8PGL7-1", "uniprot_id": "A0A6Q8PGL7_HUMAN", "mass": 14860.0, "length": 129, "protein_name": "Uncharacterized protein", "gene_name": "LOC128092252", "organism": "Human", "refseq_name": "uncharacterized LOC128092252", "refseq_ac": "NP_001401876", "gene_names_uniprotkb": "LOC128092252", "gene_names_refseq": "LOC128092252", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "uncharacterized LOC128092252", "tax_id": 9606, "disease": "", "pathway": " (hsa:128092252)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;33691108", "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": "A0A6Q8PGL7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DUQ2-1", "uniprot_id": "PRAM9_HUMAN", "mass": 55420.0, "length": 478, "protein_name": "PRAME family member 9", "gene_name": "PRAMEF9", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "PRAMEF9", "gene_names_refseq": "", "protein_names_uniprotkb": "PRAME family member 9", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:343070); (hsa:653619)", "pathway_count": 2, "publication_count": 2, "publication_id_list": "11237011;26138980", "class_list": "", "function": "Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex, which mediates ubiquitination of target proteins, leading to their degradation (PubMed:26138980). The CRL2(PRAMEF9) complex mediates ubiquitination and degradation of truncated MSRB1/SEPX1 selenoproteins produced by failed UGA/Sec decoding (PubMed:26138980)., [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": "B2RPE1;Q08EQ1;Q5VWM5", "ec_number_list": "", "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "P0DUQ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DUX1-1", "uniprot_id": "SPD12_HUMAN", "mass": 31482.0, "length": 265, "protein_name": "Speedy protein E12", "gene_name": "SPDYE12", "organism": "Human", "refseq_name": "speedy protein E12", "refseq_ac": "NP_001369484", "gene_names_uniprotkb": "SPDYE12; SPDYE12P", "gene_names_refseq": "SPDYE12P; SPDYE12", "protein_names_uniprotkb": "Speedy protein E12", "protein_names_refseq": "Williams Beuren syndrome chromosome region 19 pseudogene; speedy homolog E1 pseudogene; speedy protein E12; speedy/RINGO cell cycle regulator family member E1 pseudogene; speedy/RINGO cell cycle regulator family member E12, pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:100101268)", "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:0019901 protein kinase binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DUX1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A804HLA8-1", "uniprot_id": "GBG5B_HUMAN", "mass": 7251.0, "length": 68, "protein_name": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5B", "gene_name": "GNG5B", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5B", "refseq_ac": "NP_001382951", "gene_names_uniprotkb": "GNG5B; GNG5P2", "gene_names_refseq": "GNG5B; GNG5P2; GNG5ps; HG3L1; HG3L3; dJ364I1.1", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5B", "protein_names_refseq": "G protein gamma 5-like subunit; G protein subunit gamma 5 pseudogene 2; dJ364I1.1 (G Protein (Guanine Nucleotide-binding protein) Gamma 5 subunit (GNGT5, GNG5) LIKE protein); guanine nucleotide binding protein (G protein), gamma 5 pseudogene 2; guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5B; heterotrimeric guanine nucleotide-binding protein 3L1; heterotrimeric guanine nucleotide-binding protein 3L3", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:347687)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction., [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:0031681 G-protein beta-subunit binding", "go_cellular_component": "GO:0005834 heterotrimeric G-protein complex", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A804HLA8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DX01-1", "uniprot_id": "GG6LY_HUMAN", "mass": 104114.0, "length": 826, "protein_name": "Golgin subfamily A member 6-like protein 25", "gene_name": "GOLGA6L25P; 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GOLGA6L24", "organism": "Human", "refseq_name": "golgin subfamily A member 6-like protein 24", "refseq_ac": "NP_001381687", "gene_names_uniprotkb": "GOLGA6L24P; GOLGA6L24", "gene_names_refseq": "GOLGA6L24P; GOLGA6L24", "protein_names_uniprotkb": "Golgin subfamily A member 6-like protein 24", "protein_names_refseq": "golgin A6 family like 24, pseudogene; golgin A6 family-like; golgin subfamily A member 6-like protein 24", "tax_id": 9606, "disease": "", "pathway": " (hsa:645202)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0DX00-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DX02-1", "uniprot_id": "GG6LZ_HUMAN", "mass": 81007.0, "length": 649, "protein_name": "Golgin subfamily A member 6-like protein 26", "gene_name": "GOLGA6L26; LOC102723623", "organism": "Human", "refseq_name": "golgin subfamily A member 6-like protein 26", "refseq_ac": "NP_001369375", "gene_names_uniprotkb": "GOLGA6L26; LOC102723623", "gene_names_refseq": "GOLGA6L26", "protein_names_uniprotkb": "Golgin subfamily A member 6-like protein 26", "protein_names_refseq": "golgin subfamily A member 6-like protein 26; golgin subfamily A member 6-like protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:102723623)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0DX02-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DW81-1", "uniprot_id": "PACMP_HUMAN", "mass": 4877.0, "length": 44, "protein_name": "Poly-ADP-ribosylation-amplifying and CtIP-maintaining micropeptide", "gene_name": "MARCHF6-DT", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "MARCHF6-DT; 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Prevents KLHL15-mediated ubiquitination of RBBP8/CtIP by competitively blocking the association between KLHL15 and RBBP8/CtIP (PubMed:35219381). 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DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling., [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:0003677 DNA binding;GO:0046982 protein heterodimerization activity;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005634 nucleus;GO:0000786 nucleosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DW85-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DUX0-1", "uniprot_id": "SPD10_HUMAN", "mass": 31441.0, "length": 265, "protein_name": "Speedy protein E10", "gene_name": "SPDYE10", "organism": "Human", "refseq_name": "speedy protein E10", "refseq_ac": "NP_001369433", "gene_names_uniprotkb": "SPDYE10; 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PRAME family member 9/15", "tax_id": 9606, "disease": "", "pathway": " (hsa:653619)", "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": "B2RPE1;Q08EQ1;Q5VWM5", "ec_number_list": "", "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045596 negative regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DUQ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A804HID5-1", "uniprot_id": "A0A804HID5_HUMAN", "mass": 3012.0, "length": 27, "protein_name": "Uncharacterized protein", "gene_name": "LOC127898562", "organism": "Human", "refseq_name": "uncharacterized LOC127898562", "refseq_ac": "NP_001401631", "gene_names_uniprotkb": "LOC127898562", "gene_names_refseq": "LOC127898562", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "uncharacterized LOC127898562", "tax_id": 9606, "disease": "", "pathway": " (hsa:127898562)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A804HID5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DV60-1", "uniprot_id": "LCE7A_HUMAN", "mass": 10475.0, "length": 95, "protein_name": "Late cornified envelope protein 7A", "gene_name": "LCE7A", "organism": "Human", "refseq_name": "late cornified envelope protein 7A", "refseq_ac": "NP_001382919", "gene_names_uniprotkb": "LCE7A", "gene_names_refseq": "LCE7A", "protein_names_uniprotkb": "Late cornified envelope protein 7A", "protein_names_refseq": "late cornified envelope 7A protein; late cornified envelope protein 7A", "tax_id": 9606, "disease": "", "pathway": " (hsa:122526777)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "Precursors of the cornified envelope of the stratum corneum., [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_biological_process": "GO:0031424 keratinization", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0DV60-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DV77-1", "uniprot_id": "TPRX2_HUMAN", "mass": 32608.0, "length": 301, "protein_name": "Tetrapeptide repeat homeobox protein 2", "gene_name": "TPRX2", "organism": "Human", "refseq_name": "tetrapeptide repeat homeobox protein 2 isoform 1", "refseq_ac": "NP_001384276", "gene_names_uniprotkb": "TPRX2", "gene_names_refseq": "TPRX2P1; TPRX2P; TPRX2; TPRXP1", "protein_names_uniprotkb": "Tetrapeptide repeat homeobox protein 2", "protein_names_refseq": "Tetrapeptide repeat homeobox protein 2; tetra-peptide repeat homeobox 1 pseudogene; tetra-peptide repeat homeobox 2 pseudogene; tetra-peptide repeat homeobox pseudogene 1; tetrapeptide repeat homeobox 2, pseudogene; tetrapeptide repeat homeobox protein 2 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:503627); (R-HSA-9819196)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "11237011;22209328;23934149;24278031;26360614;26951377;27062923;27412763;28459456;28459457;31630170;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 pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor expressed after fertilization required for zygotic genome activation (ZGA), a critical event in early embryonic development during which the developmental control passes from maternally provided mRNAs to the expression of the zygotic genome after fertilization (PubMed:27412763, PubMed:36074823). Binds and activates expression of key ZGA marker genes, such as NANOGNB, ZSCAN4, DUXB, KLF5 and DPPA3 (PubMed:36074823). Binds to regulatory DNA sequences containing a 5'-TAATCC-3' sequence motif (PubMed:36074823)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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: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:0160021 maternal-to-zygotic transition of gene expression", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "P0DV77-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DV73-1", "uniprot_id": "F90AG_HUMAN", "mass": 49759.0, "length": 464, "protein_name": "Protein FAM90A16", "gene_name": "FAM90A16", "organism": "Human", "refseq_name": "protein FAM90A16", "refseq_ac": "NP_001384325", "gene_names_uniprotkb": "FAM90A16; FAM90A16P", "gene_names_refseq": "FAM90A16P; FAM90A16; FAM90A17P", "protein_names_uniprotkb": "Protein FAM90A16", "protein_names_refseq": "FAM90A pseudogene; family with sequence similarity 90 member A16, pseudogene; protein FAM90A16; putative protein FAM90A16P/FAM90A17P", "tax_id": 9606, "disease": "", "pathway": " (hsa:441323)", "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": "A6NEW6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DV73-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A455ZAR2-1", "uniprot_id": "PNT87_HUMAN", "mass": 9607.0, "length": 87, "protein_name": "Transcriptional regulator PINT87aa", "gene_name": "LINC-PINT", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LINC-PINT", "gene_names_refseq": "", "protein_names_uniprotkb": "Transcriptional regulator PINT87aa", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "30367041;33754036", "class_list": "", "function": "Enhances the binding of the PAF1 complex to target gene promoters and plays a role in negative regulation of transcription (PubMed:30367041). May function as an anchor to keep the PAF1 complex on target gene promoters, sequentially pausing RNA polymerase II-induced mRNA elongation (PubMed:30367041). Inhibits FOXM1-mediated transcription of PHB2 (PubMed:33754036)., [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": 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_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A0A455ZAR2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DV75-1", "uniprot_id": "F90AI_HUMAN", "mass": 49680.0, "length": 464, "protein_name": "Protein FAM90A18", "gene_name": "FAM90A18", "organism": "Human", "refseq_name": "protein FAM90A18", "refseq_ac": "NP_001157923", "gene_names_uniprotkb": "FAM90A18; FAM90A18P", "gene_names_refseq": "FAM90A18P; FAM90A18; FAM90A19P", "protein_names_uniprotkb": "Protein FAM90A18", "protein_names_refseq": "family with sequence similarity 90 member A18, pseudogene; protein FAM90A18; putative protein FAM90A18/FAM90A19; putative protein FAM90A18P/FAM90A19P", "tax_id": 9606, "disease": "", "pathway": " (hsa:441326)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "FAM90A18 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, 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": 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": "A6NE21", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DV75-1", "record_type": "protein" }, { "uniprot_canonical_ac": "C0HM01-1", "uniprot_id": "RBRP_HUMAN", "mass": 8407.0, "length": 71, "protein_name": "Putative RNA-binding regulatory peptide", "gene_name": "SEPTIN14P20", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "SEPTIN14P20; C20orf69; LINC00266-1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative RNA-binding regulatory peptide; RBRP; Septin 14 pseudogene 20", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "32245947", "class_list": "", "function": "Enhances binding of IGF2BP1 to N6-methyladenosine (m6A)-containing mRNAs, thereby contributing to increased mRNA stability (PubMed:32245947). Also increases the interaction of IGF2BP1 with RNA stabilizers ELAVL1/HUR, MATR3 and PABPC1, and increases the interaction of RNA stabilizers ELAVL1/HUR, MATR3 and PABPC1 with m6A-containing mRNAs (PubMed:32245947). 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"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": "A0AAG2TWI1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0AAG2TWJ7-1", "uniprot_id": "A0AAG2TWJ7_HUMAN", "mass": 7526.0, "length": 68, "protein_name": "Uncharacterized protein", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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"go_cellular_component": "GO:0005801 cis-Golgi network", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0AAG2TWJ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0AAG2TWV3-1", "uniprot_id": "A0AAG2TWV3_HUMAN", "mass": 14339.0, "length": 131, "protein_name": "Uncharacterized protein", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 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, 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"record_type": "protein" }, { "uniprot_canonical_ac": "A0AAG2UXZ5-1", "uniprot_id": "A0AAG2UXZ5_HUMAN", "mass": 153767.0, "length": 1516, "protein_name": "Collagen type XVIII alpha 1 chain", "gene_name": "COL18A1", "organism": "Human", "refseq_name": "collagen alpha-1(XVIII) chain isoform 1 preproprotein", "refseq_ac": "NP_085059", "gene_names_uniprotkb": "COL18A1", "gene_names_refseq": "COL18A1; GLCC; KNO1; KNO; KS", "protein_names_uniprotkb": "Collagen type XVIII alpha 1 chain", "protein_names_refseq": "antiangiogenic agent; collagen alpha-1(XVIII) chain isoform 1 preproprotein; collagen, type XVIII, alpha 1; endostatin; multi-functional protein MFP", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "15950618;36623578;37074911", "class_list": "", "function": "Biologically active endostatin, generated by matrix metalloproteases from collagen XVIII, may participate in the inhibition of endothelial cell proliferation, migration and angiogenesis., [RefSeq, PubMed]; Temporally and spatially regulated collagen XVIII isoforms are involved in ureteric tree development via the TSP1-like domain., [RefSeq, PubMed]; This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 1, "reported_interactions": 0, "missing_score": 9384, "biomarker_type": "", "glycan_count": 9, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "A0AAG2UXZ5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0AAG2UXD8-1", "uniprot_id": "A0AAG2UXD8_HUMAN", "mass": 195618.0, "length": 1704, "protein_name": "Olduvai domain-containing protein", "gene_name": "LOC102724250", "organism": "Human", "refseq_name": "uncharacterized protein LOC102724250 isoform 1", "refseq_ac": "NP_001392459", "gene_names_uniprotkb": "LOC102724250", "gene_names_refseq": "LOC102724250", "protein_names_uniprotkb": "Olduvai domain-containing protein", "protein_names_refseq": "uncharacterized protein LOC102724250 isoform 1", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0AAG2UXD8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0AAG2UWQ9-1", "uniprot_id": "A0AAG2UWQ9_HUMAN", "mass": 88190.0, "length": 784, "protein_name": "NF-kappa-B-repressing factor", "gene_name": "NKRF", "organism": "Human", "refseq_name": "NF-kappa-B-repressing factor", "refseq_ac": "NP_001404819", "gene_names_uniprotkb": "NKRF", "gene_names_refseq": "ITBA4; NKRF; NRF; XTBD3", "protein_names_uniprotkb": "NF-kappa-B-repressing factor", "protein_names_refseq": "NF-kappa-B-repressing factor; XRN2 binding domain containing 3; transcription factor NRF", "tax_id": 9606, "disease": "", "pathway": " (hsa:55922)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "12381793;14744032;37921219;38612387", "class_list": "", "function": "A1CF Binding to the p65 Interaction Site on NKRF Decreased IFN-beta Expression and p65 Phosphorylation (Ser536) in Renal Carcinoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; CDNA is 3247 bp long, contains three exons and maps to human chromosome Xq24. NRF is widely expressed in human tissues., [RefSeq, PubMed]; Enhances the ATPase activity of DHX15 by acting like a brace that tethers mobile sections of DHX15 together, stabilizing a functional conformation with high RNA affinity of DHX15. Involved in the constitutive silencing of the interferon beta promoter, independently of the virus-induced signals, and in the inhibition of the basal and cytokine-induced iNOS promoter activity. Also involved in the regulation of IL-8 transcription. May also act as a DNA-binding transcription regulator: interacts with a specific negative regulatory element (NRE) 5'-AATTCCTCTGA-3' to mediate transcriptional repression of certain NK-kappa-B responsive genes., [UniProtKB, UniProtKB]; Role of NF-kappa B-repressing factor (NRF) in basal repression of the hiNOS gene, [RefSeq, PubMed]; This gene encodes a transcriptional repressor that interacts with specific negative regulatory elements to mediate transcriptional repression of certain nuclear factor kappa B responsive genes. The protein localizes predominantly to the nucleolus with a small fraction found in the nucleoplasm and cytoplasm. Alternate splicing results in multiple transcript variants. 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"ALT36_HUMAN", "mass": 15758.0, "length": 148, "protein_name": "RPL36 alternative reading frame protein", "gene_name": "RPL36", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "RPL36", "gene_names_refseq": "", "protein_names_uniprotkb": "RPL36 alternative reading frame protein; alt-RPL36", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:25873); (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": 192, "publication_id_list": 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"class_list": "", "function": "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]; Inhibits C2CD2L/TMEM24-dependent transport of phosphatidylinositol, the precursor of phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), from its site of synthesis in the endoplasmic reticulum to the cell membrane (PubMed:33479206). This leads to down-regulation of the PI3K-AKT-mTOR signaling pathway (PubMed:33479206)., [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": 4, "reported_mutagensis": 11, "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:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 19.5, "record_id": "C0HME6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A3G1DJQ2-1", "uniprot_id": "SHLP3_HUMAN", "mass": 4380.0, "length": 38, "protein_name": "Small humanin-like peptide 3", "gene_name": "MT-RNR2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "MT-RNR2; HN", "gene_names_refseq": "", "protein_names_uniprotkb": "Small humanin-like peptide 3; SHLP3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-416476); (R-HSA-418594); (R-HSA-444473)", "pathway_count": 3, "publication_count": 78, "publication_id_list": "10191087;10567430;10727532;10861009;11007482;11015615;11371646;11717357;11742120;11753430;12009529;12120503;12154011;12670303;12732850;12787071;12860203;1374236;14561895;15153530;15465011;15661735;15661737;15721287;15951850;16005025;16182515;16268778;16339447;16634148;16754659;16923326;16945331;18434541;18515384;18577758;18936096;1905813;19386761;19477263;19623253;19952275;20542501;2161213;23277413;23532874;25138702;2534964;26216267;26990160;27070352;27349871;27384491;2748346;27783653;28282805;2834384;2841328;28798389;29432738;30029058;30310092;3086311;30920769;31690630;32923762;33106313;37468558;38167865;38940474;39433756;7219534;7937899;8015379;8406495;8664309;9305846;9770463", "class_list": "", "function": "Binds to and activates chemokine receptor ACKR3/CXCR7 which results in activation of proopiomelanocortin neurons in the arcuate nucleus of the hypothalamus, leading to suppression of food intake and increased energy expenditure (PubMed:37468558). Displays chaperone-like activity, inhibiting misfolding of IAPP and preventing IAPP amyloid formation (PubMed:28798389). Significantly reduces apoptosis and the generation of reactive oxygen species and improves mitochondrial metabolism in vitro (PubMed:27070352)., [UniProtKB, PubMed, PubMed, PubMed]; Plays a role as a neuroprotective factor (PubMed:11371646, PubMed:11717357, PubMed:12154011, PubMed:12787071, PubMed:12860203, PubMed:19386761). Protects against neuronal cell death induced by multiple different familial Alzheimer disease genes and amyloid-beta proteins in Alzheimer disease (PubMed:11371646, PubMed:11717357, PubMed:12154011, PubMed:12787071, PubMed:12860203, PubMed:19386761). Mediates its neuroprotective effect by binding to the humanin receptor complex; binding of MT-RNR2 activates the intracellular JAK-STAT3 signaling pathways (PubMed:16005025, PubMed:19386761, PubMed:27384491). Also acts as a ligand for G protein-coupled receptors FPR2/FPRL1 and FPR3/FPRL2 (PubMed:15465011). Inhibits amyloid-beta protein 40 fibril formation (PubMed:27349871). Also inhibits amyloid-beta protein 42 fibril formation (PubMed:28282805). Suppresses apoptosis by binding to BAX and preventing the translocation of BAX from the cytosol to mitochondria (PubMed:12732850, PubMed:26990160). Also suppresses apoptosis by binding to BID and inhibiting the interaction of BID with BAX and BAK which prevents oligomerization of BAX and BAK and suppresses release of apoptogenic proteins from mitochondria (PubMed:15661737). Forms fibers with BAX and also with BID, inducing BAX and BID conformational changes and sequestering them into the fibers which prevents their activation (PubMed:31690630, PubMed:33106313). Can also suppress apoptosis by interacting with BIM isoform BimEL, inhibiting BimEL-induced activation of BAX, blocking oligomerization of BAX and BAK, and preventing release of apoptogenic proteins from mitochondria (PubMed:15661735). Plays a role in up-regulation of anti-apoptotic protein BIRC6/APOLLON, leading to inhibition of neuronal cell death (PubMed:25138702). Binds to IGFBP3 and specifically blocks IGFBP3-induced cell death (PubMed:14561895, PubMed:26216267). Competes with importin KPNB1 for binding to IGFBP3 which is likely to block IGFBP3 nuclear import (PubMed:26216267). Induces chemotaxis of mononuclear phagocytes via FPR2/FPRL1 (PubMed:15153530). Reduces aggregation and fibrillary formation by suppressing the effect of APP on mononuclear phagocytes and acts by competitively inhibiting the access of FPR2 to APP (PubMed:15153530). Protects retinal pigment epithelium (RPE) cells against oxidative stress-induced and endoplasmic reticulum (ER) stress-induced apoptosis (PubMed:26990160, PubMed:27783653). Promotes mitochondrial biogenesis in RPE cells following oxidative stress and promotes STAT3 phosphorylation which leads to inhibition of CASP3 release (PubMed:26990160). Also reduces CASP4 levels in RPE cells, suppresses ER stress-induced mitochondrial superoxide production and plays a role in up-regulation of mitochondrial glutathione (PubMed:27783653). Reduces testicular hormone deprivation-induced apoptosis of germ cells at the nonandrogen-sensitive stages of the seminiferous epithelium cycle (PubMed:19952275). Protects endothelial cells against free fatty acid-induced inflammation by suppressing oxidative stress, reducing expression of TXNIP and inhibiting activation of the NLRP3 inflammasome which inhibits expression of pro-inflammatory cytokines IL1B and IL18 (PubMed:32923762). Protects against high glucose-induced endothelial cell dysfunction by mediating activation of ERK5 which leads to increased expression of transcription factor KLF2 and prevents monocyte adhesion to endothelial cells (PubMed:30029058). Inhibits the inflammatory response in astrocytes (PubMed:23277413). Increases the expression of PPARGC1A/PGC1A in pancreatic beta cells which promotes mitochondrial biogenesis (PubMed:29432738). Increases insulin sensitivity (PubMed:19623253)., [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]; Promotes cell proliferation in vitro., [UniProtKB, PubMed]; Significantly increases apoptosis in vitro., [UniProtKB, PubMed]; Significantly reduces apoptosis and the generation of reactive oxygen species and improves mitochondrial metabolism in vitro (PubMed:27070352). Reduces gentamicin-induced cochlear hair cell loss in vitro by decreasing activation of AKT and AMPK alpha as well as reducing oxidative stress and decreasing levels of pro-inflammatory cytokines IL1B and IL6 in hair cells (PubMed:39433756)., [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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 44, "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:0005102 signaling receptor binding;GO:0042802 identical protein binding;GO:0001664 G protein-coupled receptor binding;GO:0048019 receptor antagonist activity;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0032701 negative regulation of interleukin-18 production;GO:0007267 cell-cell signaling;GO:0043066 negative regulation of apoptotic process;GO:1904646 cellular response to amyloid-beta;GO:0006879 intracellular iron ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "A0A3G1DJQ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DY26-1", "uniprot_id": "D109D_HUMAN", "mass": 10022.0, "length": 87, "protein_name": "Beta-defensin 109D", "gene_name": "DEFB109D", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "DEFB109D", "gene_names_refseq": "", "protein_names_uniprotkb": "Beta-defensin 109D", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Has antibacterial activity., [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, 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"GO:0006952 defense response", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DY26-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0AAQ5BHU3-1", "uniprot_id": "A0AAQ5BHU3_HUMAN", "mass": 155382.0, "length": 1375, "protein_name": "Uncharacterized protein", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "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:0003964 RNA-directed DNA polymerase activity;GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0005198 structural molecule activity;GO:0004523 RNA-DNA hybrid ribonuclease activity", 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Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface. May be involved in regulation of synaptic vesicle membrane dynamics by recruitment of DNM1L to clathrin-containing vesicles., [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:0005741 mitochondrial outer membrane;GO:0005777 peroxisome", "go_biological_process": "GO:0090314 positive regulation of protein targeting to membrane;GO:0000266 mitochondrial fission;GO:0090141 positive regulation of mitochondrial fission", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0ABJ7H8I7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0ABJ7HAP4-1", "uniprot_id": "A0ABJ7HAP4_HUMAN", "mass": 11367.0, "length": 108, "protein_name": "Uncharacterized protein", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0ABJ7HAP4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DY56-1", "uniprot_id": "IFNA1_HUMAN", "mass": 21725.0, "length": 189, "protein_name": "Interferon alpha-1", "gene_name": "IFNA1", "organism": "Human", "refseq_name": "interferon alpha-1 precursor", "refseq_ac": "NP_076918", "gene_names_uniprotkb": "IFNA1", "gene_names_refseq": "IFL; IFN-ALPHA; IFN-alphaD; IFNA13; IFNA1; IFNA@; IFN; leIF D", "protein_names_uniprotkb": "Interferon alpha-1; IFN-alpha-1; Interferon alpha-D; LeIF D", "protein_names_refseq": "IFN-alpha-1/13; interferon alpha 1b; interferon alpha-1 precursor; interferon alpha-1/13; interferon alpha-D; interferon-alpha1", "tax_id": 9606, "disease": "Crimean-Congo hemorrhagic fever (Disease Ontology:DOID:12287); melioidosis (Disease Ontology:DOID:5052); hepatocellular carcinoma (Disease Ontology:DOID:684); osteoarthritis (Disease Ontology:DOID:8398)", "pathway": " (R-HSA-909733); (R-HSA-912694); (R-HSA-933541); (R-HSA-9705671); (R-HSA-983231); (R-HSA-9833109)", "pathway_count": 6, "publication_count": 198, "publication_id_list": "10022928;10395669;10421793;10542297;10581243;10982844;11032395;11042108;11062261;11073981;11092454;11242053;11337497;11377645;11404376;11585831;11694501;11744692;11751636;11895428;11950885;12019269;12029096;12032298;12133833;12134158;12427746;12604599;12692549;12759408;12766484;12842042;14769151;15020713;15047845;15208624;15247287;15312780;15361868;15449939;15710388;15778442;16009940;16054028;16125763;16127453;16153868;16171819;1630448;1634550;16710296;16914100;16987978;17027967;17196961;17251292;1730654;17327220;17351669;17392790;17969444;18035202;1849076;18508557;18575461;19193793;19293402;19479062;19668221;20043992;20130243;20363976;20530532;20627800;20643137;20857263;21632562;218813;2211721;22307521;22383950;22619329;22941947;23061660;23121362;23453971;24417533;24722368;25371710;26845023;2985969;30485383;30558248;31850239;32032529;32113509;32353859;32428392;32511913;32574262;32589897;32661006;32726803;32728199;32758689;32862111;32953130;32979938;33024073;33060197;33097660;33110251;33117408;33189161;33193462;33349665;33360543;33372174;33372854;33396578;33396605;33440148;33479219;33495715;33514628;33567255;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33963333;33989516;33990585;34021074;34054808;34084167;3409321;34110168;34166398;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34597346;35102342;35643212;37051252;38387232;38424312;38605949;38675842;38864429;4057246;6157095;6157600;6162102;6163083;6310510;6479148;6548414;688397;7510216;7526154;7537377;7540766;8197134;8232552;8605876;8621447;8662638;8702790;8816476;8943354;9065479;9096384;9121453;9230307;9242679;9326583;9331217;9334213;9422515;9425112;9660177;9660935;9822609;9847332;9861020;9927674", "class_list": "", "function": "Association between polymorphisms in TLR3, TICAM1 and IFNA1 genes and covid-19 severity in Southern Brazil., [RefSeq, PubMed]; Enhanced GATA4 expression in senescent systemic lupus erythematosus monocytes promotes high levels of IFNalpha production. Publication Status: Online-Only, [RefSeq, PubMed]; Interferon-alpha induces differentiation of cancer stem cells and immunosuppression in hepatocellular carcinoma by upregulating CXCL8 secretion., [RefSeq, PubMed]; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase., [UniProtKB, PubMed]; Severe COVID-19 and long COVID are associated with high expression of STING, cGAS and IFN-alpha. Publication Status: Online-Only, [RefSeq, PubMed]; The Expression Levels of TREX1 and IFN-alpha Are Associated with Immune Reconstitution in HIV-1-Infected Individuals. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the alpha interferon gene cluster on chromosome 9. The encoded cytokine is a member of the type I interferon family that is produced in response to viral infection as a key part of the innate immune response with potent antiviral, antiproliferative and immunomodulatory properties. This cytokine, like other type I interferons, binds a plasma membrane receptor made of IFNAR1 and IFNAR2 that is ubiquitously expressed, and thus is able to act on virtually all body cells. This cytokine is upregulated in preeclamptic placentas and is thought to be a mediator of preeclampsia. [provided by RefSeq, Aug 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D4Q9M8;P01562;Q14605;Q2M1L8;Q52LB8;Q5VYQ2;Q7M4Q1;Q8WZ68;Q9UMJ3", "ec_number_list": "", "go_molecular_function": "GO:0005125 cytokine activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0051607 defense response to virus", "synthesized_glycan_count": 0, "hit_score": 19.9, "record_id": "P0DY56-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DY57-1", "uniprot_id": "ARTEL_HUMAN", "mass": 12160.0, "length": 106, "protein_name": "Putative protein encoded by LncRNA PSR", "gene_name": "RASAL2-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "RASAL2-AS1; LNCPSR", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein encoded by LncRNA PSR; Arteridin-like protein; LncRNA PSR; LncRNA phenotype switching regulator; RASAL2 antisense RNA 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "36134578", "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": "P0DY57-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQ86-1", "uniprot_id": "TRI36_HUMAN", "mass": 83013.0, "length": 728, "protein_name": "E3 ubiquitin-protein ligase TRIM36", "gene_name": "TRIM36", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM36 isoform 2", "refseq_ac": "NP_001017397", "gene_names_uniprotkb": "TRIM36; RBCC728; RNF98", "gene_names_refseq": "ANPH1; ANPH; HAPRIN; RBCC728; RNF98; TRIM36", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM36; 2.3.2.27; RING finger protein 98; RING-type E3 ubiquitin transferase TRIM36; Tripartite motif-containing protein 36; Zinc-binding protein Rbcc728", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM36 isoform 2; E3 ubiquitin-protein ligase TRIM36; RING finger protein 98; RING-type E3 ubiquitin transferase TRIM36; tripartite motif protein 36; tripartite motif-containing protein 36; zinc-binding protein Rbcc728", "tax_id": 9606, "disease": "anencephaly (Disease Ontology:DOID:0060668)", "pathway": " (hsa:55521); (R-HSA-983168)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15145053;15224091;15224092;15571818;15955891;16595681;16849449;16954532;18662542;19028597;19232519;19352404;19452197;19489725;19851334;19874575;19940261;2261476;25645385;28087737;29242379;32157095;32161166;32357974;32387766;33968037;33981976;34087483;34509645;35051231;35768649;36058131;36799474;37735976;37875418;40821731;41323265;9380723;9668046", "class_list": "", "function": "E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins including CTNNB1, FOXA2 and AKT1 (PubMed:35768649, PubMed:37875418, PubMed:41323265). Involved in chromosome segregation and cell cycle regulation (PubMed:28087737). May play a role in the acrosome reaction and fertilization. Inhibits lung fibroblast proliferation, migration, and differentiation. Mechanistically, mediates 'Lys-48'-linked polyubiquitination of phospho-AKT1, leading to its proteasomal degradation and consequent inhibition of AKT signaling (PubMed:41323265). Promotes apoptosis via inhibition of the Wnt/beta-catenin signaling pathway (PubMed:35768649). Regulates ferroptosis by ubiquitinating and degrading FOXA2 (PubMed:37875418)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; FOXA2 Suppression by TRIM36 Exerts Anti-Tumor Role in Colorectal Cancer Via Inducing NRF2/GPX4-Regulated Ferroptosis., [RefSeq, PubMed]; Genome-wide association study reveals HSF2, GJA1 and TRIM36 as susceptibility genes for preeclampsia: a community-based population study in Tianjin, China., [RefSeq, PubMed]; Molecular cloning and characterization of a human haprin ortholog., [RefSeq, PubMed]; TRIM36 enhances lung adenocarcinoma radiosensitivity and inhibits tumorigenesis through promoting RAD51 ubiquitination and antagonizing hsa-miR-376a-5p., [RefSeq, PubMed]; TRIM36 has a ubiquitin ligase activity and interacts with centromere protein-H, potentially associated with chromosome segregation and its excess may cause chromosomal instability., [RefSeq, PubMed]; The overexpression of the TRIM36 in the vast majority of prostate cancer suggest that this gene might be involved in the prostate tumorigenesis., [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. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Trigred motif 36 regulates neuroendocrine differentiation of prostate cancer via HK2 ubiquitination and GPx4 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": 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": "A1L3Z1;A6NDD0;B7Z3V4;B7ZAV7;E9PFI8;Q0P5Z9", "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:0004842 ubiquitin-protein transferase activity;GO:0043014 alpha-tubulin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0001669 acrosomal vesicle;GO:0030133 transport vesicle", "go_biological_process": "GO:0007340 acrosome reaction;GO:0000281 mitotic cytokinesis;GO:0007051 spindle organization;GO:0051726 regulation of cell cycle;GO:0070507 regulation of microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9NQ86-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75431-1", "uniprot_id": "MTX2_HUMAN", "mass": 29763.0, "length": 263, "protein_name": "Metaxin-2", "gene_name": "MTX2", "organism": "Human", "refseq_name": "metaxin-2 isoform 2", "refseq_ac": "NP_001006636", "gene_names_uniprotkb": "MTX2", "gene_names_refseq": "MDPS; MTX2; metaxin-2", "protein_names_uniprotkb": "Metaxin-2; Mitochondrial outer membrane import complex protein 2", "protein_names_refseq": "metaxin-2 isoform 2; mitochondrial outer membrane import complex protein 2", "tax_id": 9606, "disease": "mandibuloacral dysplasia progeroid syndrome (MONDO:MONDO:0030880)", "pathway": " (hsa:10651); (R-HSA-1268020); (R-HSA-8949613)", "pathway_count": 3, "publication_count": 84, "publication_id_list": "10381257;11237011;14726512;15254020;15644312;15683237;16185709;16849325;17121862;17510655;17624330;18174896;18323778;18678864;19409522;19453276;19767391;19962426;20593814;20833715;20877624;21750375;21836051;22114354;22252321;22864911;23041349;23481700;23597483;23811401;24098383;24687277;24715725;25285856;25315652;25418920;25469497;25764979;25781180;25997101;26154972;26416881;26477565;26530328;26697887;26811146;26929215;26968360;26992070;27479602;27485409;27623147;27846572;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29557506;29632046;30315122;30779550;31092671;31530632;31844290;32157095;32161166;32350084;32897882;32917887;32938616;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34357683;36241641;38250156", "class_list": "", "function": "Involved in transport of proteins into the mitochondrion., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology. Erratum:[Nat Commun. 2020 Oct 19;11(1):5349. doi: 10.1038/s41467-020-19290-y. PMID: 33077719] Publication Status: Online-Only, [RefSeq, PubMed]; Loss of MTX2 causes mitochondrial dysfunction, podocyte injury, nephrotic proteinuria and glomerulopathy in mice and patients. Publication Status: Online-Only, [RefSeq, PubMed]; Mitofilin helps regulate mitochondrial morphology and at least four of the associated proteins (metaxins 1 and 2, SAM50 and CHCHD3) have been implicated in protein import, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The pathway of Voltage-dependent anion-selective channel biogenesis in human mitochondria involves the TOM complex, Sam50 and metaxins, and that it is evolutionarily conserved., [RefSeq, PubMed]; The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8JZZ4;Q53S50;Q53SQ2;Q5M7Z6;Q8IZ68", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0001401 SAM complex;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0140275 MIB complex", "go_biological_process": "GO:0045040 protein insertion into mitochondrial outer membrane;GO:0006839 mitochondrial transport;GO:0015031 protein transport;GO:0007007 inner mitochondrial membrane organization;GO:0070096 mitochondrial outer membrane translocase complex assembly", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "O75431-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UVY6-1", "uniprot_id": "MOXD1_HUMAN", "mass": 69652.0, "length": 613, "protein_name": "DBH-like monooxygenase protein 1", "gene_name": "MOXD1", "organism": "Human", "refseq_name": "DBH-like monooxygenase protein 1 precursor", "refseq_ac": "NP_056344", "gene_names_uniprotkb": "MOXD1; MOX; PRO5780", "gene_names_refseq": "MOXD1; MOX; PRO5780; dJ248E1.1", "protein_names_uniprotkb": "DBH-like monooxygenase protein 1; 1.14.17.-; Monooxygenase X", "protein_names_refseq": "DBH-like monooxygenase protein 1 precursor; DBH-like monooxygenase protein 1; dopamine-oxygenase; monooxygenase X", "tax_id": 9606, "disease": "", "pathway": " (hsa:26002)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;15337741;21654843;24366607;25418920;25576301;25880248;26375851;26992070;27600516;27846572;27920218;28218747;28832583;28834231;28904123;29242379;29437277;29557506;29786170;30410026;32157095;32265295;32350084;32357974;32387766;32488085;33592498;33912179;33936100;34357683;34932366;35051231;35154160;36284347;37074911;37938771;38200441;38905335;9751809", "class_list": "", "function": "Based on its sequence and localization, MOX (monooxygenase X) is predicted to hydroxylate a hydrophobic substrate in the endoplasmic reticulum., [RefSeq, PubMed]; MOXD1 is a lineage-specific gene and a tumor suppressor in neuroblastoma., [RefSeq, PubMed]; RNA N6-methyladenosine demethylase FTO targets MOXD1 promoting the malignant phenotype of gastric 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": 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": 28, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 35, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q5THU6;Q8NC97;Q8WV49;Q9H4M6;Q9Y4U3", "ec_number_list": "", "go_molecular_function": "GO:0005507 copper ion binding;GO:0004500 dopamine beta-monooxygenase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005789 endoplasmic reticulum membrane;GO:0030667 secretory granule membrane", "go_biological_process": "GO:0042420 dopamine catabolic process;GO:0006589 octopamine biosynthetic process;GO:0042421 norepinephrine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q6UVY6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7RTY1-1", "uniprot_id": "MOT9_HUMAN", "mass": 55794.0, "length": 509, "protein_name": "Monocarboxylate transporter 9", "gene_name": "SLC16A9", "organism": "Human", "refseq_name": "monocarboxylate transporter 9 isoform a", "refseq_ac": "NP_001310910", "gene_names_uniprotkb": "SLC16A9; C10orf36; MCT9", "gene_names_refseq": "C10orf36; MCT9; SLC16A9", "protein_names_uniprotkb": "Monocarboxylate transporter 9; MCT 9; Solute carrier family 16 member 9", "protein_names_refseq": "MCT 9; monocarboxylate transporter 9 isoform a; monocarboxylate transporter 9; monocarboxylic acid transporter 9; solute carrier family 16 (monocarboxylic acid transporters), member 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:220963)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "12739169;16385451;19503597;19861489;19890391;21886157;26992070;28467828;29557506;30429286;31784090;31844290;31848261;32350084;32566650;32938616;33298915;33555501;34097251;35051231;35154160;36241641;37217939;37879602", "class_list": "", "function": "Extracellular pH-and Na(+)-sensitive low-affinity creatine transporter (PubMed:31784090). Also functions as a pH-independent carnitine efflux transporter (PubMed:21886157)., [UniProtKB, PubMed, PubMed]; Meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Molecular characteristic analysis of single-nucleotide polymorphisms in SLC16A9/hMCT9., [RefSeq, PubMed]; Monocarboxylate transporter 9 (MCT9) is down-regulated in renal cell carcinoma., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; SLC1A1, SLC16A9, and CNTN3 Are Potential Biomarkers for the Occurrence of Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The tissue expression of MCT3, MCT8, and MCT9 genes in women with 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": 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": "Q6ZMI2;Q9UFH8", "ec_number_list": "", "go_molecular_function": "GO:0015293 symporter activity;GO:0008028 monocarboxylic acid transmembrane transporter activity;GO:0005308 creatine transmembrane transporter activity;GO:0015226 carnitine transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0046415 urate metabolic process;GO:1902603 carnitine transmembrane transport;GO:0015881 creatine transmembrane transport;GO:1905039 carboxylic acid transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q7RTY1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UX06-1", "uniprot_id": "OLFM4_HUMAN", "mass": 57280.0, "length": 510, "protein_name": "Olfactomedin-4", "gene_name": "OLFM4", "organism": "Human", "refseq_name": "olfactomedin-4 precursor", "refseq_ac": "NP_006409", "gene_names_uniprotkb": "OLFM4; GW112; PRO698", "gene_names_refseq": "GC1; GW112; OLFM4; OLM4; OlfD; UNQ362; bA209J19.1; hGC-1; hOLfD; pDP4", "protein_names_uniprotkb": "Olfactomedin-4; Antiapoptotic protein GW112; G-CSF-stimulated clone 1 protein; OLM4; hGC-1; hOLfD", "protein_names_refseq": "G-CSF-stimulated clone 1 protein; antiapoptotic protein GW112; olfactoimedin; olfactomedin-4 precursor; tiarin", "tax_id": 9606, "disease": "", "pathway": " (hsa:10562); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "37639587;11867215;12975309;15059901;16566923;17270022;20724538;23090970;23481700;23650620;24190977;28218747;29242379;29557506;29741879;29789417;30237853;30429286;32125861;32157095;33154460;33912179;36284347;36577836;37074911;37280213;38613883;38719336;39075283;8692836", "class_list": "", "function": "Blocking OLFM4/galectin-3 axis in placental polymorphonuclear myeloid-derived suppressor cells triggers intestinal inflammation in newborns., [RefSeq, PubMed]; Comprehensive single-cell analysis deciphered microenvironmental dynamics and immune regulator olfactomedin 4 in pathogenesis of gallbladder cancer. Publication Status: Online-Only, [RefSeq, PubMed]; LRFN5 and OLFM4 as novel potential biomarkers for major depressive disorder: a pilot study. Publication Status: Online-Only, [RefSeq, PubMed]; May promote proliferation of pancreatic cancer cells by favoring the transition from the S to G2/M phase. In myeloid leukemic cell lines, inhibits cell growth and induces cell differentiation and apoptosis. May play a role in the inhibition of EIF4EBP1 phosphorylation/deactivation. Facilitates cell adhesion, most probably through interaction with cell surface lectins and cadherin., [UniProtKB, PubMed, PubMed, PubMed]; OLFM4 modulates intestinal inflammation by promoting IL-22[+]ILC3 in the gut. Publication Status: Online-Only, [RefSeq, PubMed]; Olfactomedin 4 produces dysplasia but suppresses metastasis of colon cancer., [RefSeq, PubMed]; This gene was originally cloned from human myeloblasts and found to be selectively expressed in inflammed colonic epithelium. This gene encodes a member of the olfactomedin family. The encoded protein is an antiapoptotic factor that promotes tumor growth and is an extracellular matrix glycoprotein that facilitates cell adhesion. [provided by RefSeq, Mar 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "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": 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": 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": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 60, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "O95362;Q5VWG0;Q86T22", "ec_number_list": "", "go_molecular_function": "GO:0005198 structural molecule activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:1900026 positive regulation of substrate adhesion-dependent cell spreading", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q6UX06-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y263-1", "uniprot_id": "PLAP_HUMAN", "mass": 87157.0, "length": 795, "protein_name": "Phospholipase A-2-activating protein", "gene_name": "PLAA", "organism": "Human", "refseq_name": "phospholipase A-2-activating protein isoform 1", "refseq_ac": "NP_001026859", "gene_names_uniprotkb": "PLAA; PLAP", "gene_names_refseq": "DOA1; NDMSBA; PLA2P; PLAA; PLAP", "protein_names_uniprotkb": "Phospholipase A-2-activating protein; PLA2P; PLAP", "protein_names_refseq": "DOA1 homolog; phospholipase A-2-activating protein isoform 1; phospholipase A-2-activating protein", "tax_id": 9606, "disease": "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MONDO:MONDO:0060502)", "pathway": " (hsa:9373)", "pathway_count": 1, "publication_count": 101, "publication_id_list": "10571045;10644453;11237011;18291623;18691976;19423704;19608861;19887378;20068231;22424782;22645359;23186163;23301498;23481700;24715725;25418920;25502872;25576301;25645385;25802875;25880248;25892735;26024233;26154972;26992070;27600516;27753622;27846572;27862975;28007986;28218747;28228285;28413018;28510447;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29769354;29786170;30315122;30379171;30410026;30484775;30524438;30620550;30779550;31154438;31530632;31844290;31937595;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34229054;34357683;34405274;34509645;34725712;34932366;35051231;35580925;35869392;36010968;36215666;36241641;36284347;36581221;37938771;38665916;40307207;9931468", "class_list": "", "function": "In both human and mouse, hypomorphic mutations in the ubiquitin adaptor protein PLAA cause an infantile-lethal neurodysfunction syndrome with seizures., [RefSeq, PubMed]; PLAA suppresses ovarian cancer metastasis via METTL3-mediated m(6)A modification of TRPC3 mRNA., [RefSeq, PubMed]; Plays a role in protein ubiquitination, sorting and degradation through its association with VCP (PubMed:27753622). Involved in ubiquitin-mediated membrane proteins trafficking to late endosomes in an ESCRT-dependent manner, and hence plays a role in synaptic vesicle recycling (By similarity). May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes (PubMed:27753622). Plays a role in cerebellar Purkinje cell development (By similarity). Positively regulates cytosolic and calcium-independent phospholipase A2 activities in a tumor necrosis factor alpha (TNF)- or lipopolysaccharide (LPS)-dependent manner, and hence prostaglandin E2 biosynthesis (PubMed:18291623, PubMed:28007986)., [UniProtKB, 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": 1, "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": "Q53EU5;Q5VY33;Q9NUL8;Q9NVE9;Q9UF53;Q9Y5L1", "ec_number_list": "", "go_molecular_function": "GO:0043130 ubiquitin binding;GO:0016005 phospholipase A2 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:1903861 positive regulation of dendrite extension;GO:0010992 ubiquitin recycling;GO:0043335 protein unfolding;GO:0007165 signal transduction;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q9Y263-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14607-1", "uniprot_id": "UTY_HUMAN", "mass": 149548.0, "length": 1347, "protein_name": "Histone demethylase UTY", "gene_name": "UTY", "organism": "Human", "refseq_name": "histone demethylase UTY isoform 7", "refseq_ac": "NP_001245181", "gene_names_uniprotkb": "UTY; KDM6C", "gene_names_refseq": "KDM6AL; KDM6C; UTY1; UTY", "protein_names_uniprotkb": "Histone demethylase UTY; 1.14.11.68; Ubiquitously-transcribed TPR protein on the Y chromosome; Ubiquitously-transcribed Y chromosome tetratricopeptide repeat protein; [histone H3]-trimethyl-L-lysine(27) demethylase UTY", "protein_names_refseq": "[histone H3]-trimethyl-L-lysine(27) demethylase UTY; histone demethylase UTY isoform 7; histone demethylase UTY; lysine demethylase 6C; ubiquitous TPR motif protein UTY; ubiquitously transcribed TPR gene on Y chromosome; ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome; ubiquitously transcribed tetratricopeptide repeat gene, Y-linked; ubiquitously-transcribed TPR protein on the Y chromosome; ubiquitously-transcribed Y chromosome tetratricopeptide repeat protein", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:7404); (R-HSA-3214842)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10679124;11049993;11237011;12665801;15620353;16362057;16603237;16603238;16732292;16732293;16738407;17310255;17320163;17351631;17713478;17947579;18491316;19502796;19727073;19843542;20023638;20084082;20129925;20160060;20208542;20457893;20622853;20622854;21532585;22536994;22615488;23126655;24582729;24798337;25576301;25645385;27846572;27920218;28063628;28218747;28228285;28832583;28834231;29242379;29557506;29563586;29769354;29786170;30315122;30379171;30779550;30833945;31097364;31154438;31217245;31844290;31848261;31904996;32157095;32161166;32387766;32502341;32732223;32897882;32938616;32938750;32983136;33040644;34509645;34561969;34932366;35051231;35251023;35318648;35504005;35561310;36010968;36284347;40307207;9381176", "class_list": "", "function": "Identification of Potential Biomarkers for Intervertebral Disc Degeneration Using the Genome-Wide Expression Analysis., [RefSeq, PubMed]; Increased Expression of Y-Encoded Demethylases During Differentiation of Human Male Neural Stem Cells., [RefSeq, PubMed]; Male-specific histone demethylase that catalyzes trimethylated 'Lys-27' (H3K27me3) demethylation in histone H3. Has relatively low lysine demethylase activity., [UniProtKB, PubMed]; This gene encodes a protein containing tetratricopeptide repeats which are thought to be involved in protein-protein interactions. The encoded protein is also a minor histocompatibility antigen which may induce graft rejection of male stem cell grafts. A large number of alternatively spliced transcripts have been observed for this gene, but the full length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2012]., [RefSeq]; UTY is co-regulated with KDM6A. UTY compensates for KDM6A in eutherian males and is responsible for the association between the loss of the Y chromosome and poor prognosis in a range of cancers. [review] Review article, [RefSeq, PubMed]; X- and Y-Linked Chromatin-Modifying Genes as Regulators of Sex-Specific Cancer Incidence and Prognosis. Review article, [RefSeq, PubMed]; Y-Chromosome Gene, Uty, Protects Against Pulmonary Hypertension by Reducing Proinflammatory Chemokines., [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": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 9, "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": "A8K9Z3;E1U199;E1U1A0;F5H4V7;F8W8R7;O14608", "ec_number_list": "1.14.11.68;1.14.11.65", "go_molecular_function": "GO:0046872 metal ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0031490 chromatin DNA binding;GO:0032452 histone demethylase activity;GO:0071558 histone H3K27me2/H3K27me3 demethylase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0044666 MLL3/4 complex;GO:0005634 nucleus", "go_biological_process": "GO:0007507 heart development;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "O14607-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6R327-1", "uniprot_id": "RICTR_HUMAN", "mass": 192218.0, "length": 1708, "protein_name": "Rapamycin-insensitive companion of mTOR", "gene_name": "RICTOR", "organism": "Human", "refseq_name": "rapamycin-insensitive companion of mTOR isoform 2", "refseq_ac": "NP_001272368", "gene_names_uniprotkb": "RICTOR; KIAA1999", "gene_names_refseq": "AVO3; PIA; RICTOR; hAVO3", "protein_names_uniprotkb": "Rapamycin-insensitive companion of mTOR; AVO3 homolog; hAVO3", "protein_names_refseq": "AVO3 homolog; TORC2-specific protein AVO3; pianissimo; rapamycin-insensitive companion of mTOR isoform 2; rapamycin-insensitive companion of mTOR", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); stomach cancer (Disease Ontology:DOID:10534); lung cancer (Disease Ontology:DOID:1324); colon cancer (Disease Ontology:DOID:219); breast ductal carcinoma (Disease Ontology:DOID:3007); gallbladder cancer (Disease Ontology:DOID:3121); lymphangioleiomyomatosis (Disease Ontology:DOID:3319); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung small cell carcinoma (Disease Ontology:DOID:5409); hepatocellular carcinoma (Disease Ontology:DOID:684); tongue cancer (Disease Ontology:DOID:8649); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:253260); (R-HSA-1257604); (R-HSA-389357); (R-HSA-5218920); (R-HSA-5674400); (R-HSA-6804757); (R-HSA-9856530); (R-HSA-9920951)", "pathway_count": 8, "publication_count": 242, "publication_id_list": "10.1101/2023.09.13.557529;10075701;10102273;10191262;10358075;10376603;10485710;10490848;10608892;10639123;10649434;10722742;10764742;10980695;10980696;11147812;11237011;11274386;11278486;11359766;11504915;11715018;11803464;11804587;11853546;11923872;11968001;11983168;12056414;12138205;12150915;12167717;12172553;12176338;12244303;12524439;12660731;12668767;12670391;12724311;12767043;14507994;14617782;15053880;15169778;15268862;15302935;15304325;1535557;15467718;15527798;15718470;15788536;15916963;1614537;16163388;16272144;16402859;16474402;16780920;16845383;17060906;17081983;17121812;17461779;17599906;17611497;18212344;18220336;18256540;18439422;18452278;18669648;18691976;18710921;18767875;18925875;18954143;19020623;19413330;19644473;19651622;19664994;19690332;19691289;19720745;19723632;19756449;19805105;19816404;19838211;19935711;19995915;20068231;20338997;20438709;20440266;20489726;20713061;20832730;21204013;21343617;21406692;21730132;21730163;21827948;21867682;21964062;21986495;22025163;22084251;22310280;23186163;23481700;23727834;23762398;24275569;24715725;24973451;25576301;25645385;25714006;25738366;25761241;25892735;25897075;26154972;26170313;26176550;26356562;26728094;26992070;27108190;27239959;27566546;27600516;27797339;27862975;28218747;28228285;28287249;28510447;28832583;28834231;28904123;29237092;29242379;29393594;29437277;29493099;29557506;29567957;29632046;29632711;29769354;29786170;30059200;30315122;30379171;30410026;30429286;30524438;30833945;31130364;31154438;31205027;31217245;31530632;31844290;31848261;31937595;32157095;32161166;32265295;32296767;32357974;32387766;32488085;32502341;32647003;32897882;32938616;32983136;33141586;33158864;33298915;33378666;33392160;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34499618;34509645;34561969;35051231;35318648;35494241;35580925;35904232;35926713;36010968;36215666;36241641;36284347;36310878;37037900;37217939;37938771;37949943;38040804;38110956;38281616;38755661;39000273;40136647;7637810;7686617;7744773;7784084;7876172;7957050;8319905;8479525;8621607;8645157;8700127;8887688;8954786;9381178;9478990;9620797;9705280;9736715;9812896;9829964;9895304", "class_list": "", "function": "Component of the mechanistic target of rapamycin complex 2 (mTORC2), which transduces signals from growth factors to pathways involved in proliferation, cytoskeletal organization, lipogenesis and anabolic output (PubMed:15268862, PubMed:15718470, PubMed:19720745, PubMed:19995915, PubMed:21343617, PubMed:33158864, PubMed:35904232, PubMed:35926713). In response to growth factors, mTORC2 phosphorylates and activates AGC protein kinase family members, including AKT (AKT1, AKT2 and AKT3), PKC (PRKCA, PRKCB and PRKCE) and SGK1 (PubMed:19720745, PubMed:19935711, PubMed:19995915). In contrast to mTORC1, mTORC2 is nutrient-insensitive (PubMed:15467718, PubMed:21343617). Within the mTORC2 complex, RICTOR probably acts as a molecular adapter (PubMed:21343617, PubMed:33158864, PubMed:35926713). RICTOR is responsible for the FKBP12-rapamycin-insensitivity of mTORC2 (PubMed:33158864). mTORC2 plays a critical role in AKT1 activation by mediating phosphorylation of different sites depending on the context, such as 'Thr-450', 'Ser-473', 'Ser-477' or 'Thr-479', facilitating the phosphorylation of the activation loop of AKT1 on 'Thr-308' by PDPK1/PDK1 which is a prerequisite for full activation (PubMed:15718470, PubMed:19720745, PubMed:19935711, PubMed:35926713). mTORC2 catalyzes the phosphorylation of SGK1 at 'Ser-422' and of PRKCA on 'Ser-657' (By similarity). The mTORC2 complex also phosphorylates various proteins involved in insulin signaling, such as FBXW8 and IGF2BP1 (By similarity). mTORC2 acts upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors (PubMed:15467718). mTORC2 promotes the serum-induced formation of stress-fibers or F-actin (PubMed:15467718)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; KLF4 Suppresses the Progression of Hepatocellular Carcinoma by Reducing Tumor ATP Synthesis through Targeting the Mir-206/RICTOR Axis. Publication Status: Online-Only, [RefSeq, PubMed]; Novel RICTOR amplification harbouring entities: FISH validation of RICTOR amplification in tumour tissue after next-generation sequencing. Publication Status: Online-Only, [RefSeq, PubMed]; RBM45 reprograms lipid metabolism promoting hepatocellular carcinoma via Rictor and ACSL1/ACSL4., [RefSeq, PubMed]; RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[supplied by OMIM, Mar 2008]., [RefSeq]; RICTOR/mTORC2 downregulation in BRAF[V600E] melanoma cells promotes resistance to BRAF/MEK inhibition. Publication Status: Online-Only, [RefSeq, PubMed]; Rictor mediates p53 deactivation to facilitate the malignant transformation of hepatocytes and promote hepatocarcinogenesis. 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": 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": 39, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 109, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 12, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2RNX0;B7ZMF7;Q68DT5;Q86UB7;Q8N3A0;Q8NCM6", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0019901 protein kinase binding;GO:0043022 ribosome binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005764 lysosome", "go_biological_process": "GO:0051896 regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0009792 embryo development ending in birth or egg hatching;GO:0008610 lipid biosynthetic process;GO:0030307 positive regulation of cell growth;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 25.1, "record_id": "Q6R327-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51687-1", "uniprot_id": "SUOX_HUMAN", "mass": 60283.0, "length": 545, "protein_name": "Sulfite oxidase, mitochondrial", "gene_name": "SUOX", "organism": "Human", "refseq_name": "sulfite oxidase, mitochondrial", "refseq_ac": "NP_000447", "gene_names_uniprotkb": "SUOX", "gene_names_refseq": "SUOX", "protein_names_uniprotkb": "Sulfite oxidase, mitochondrial; 1.7.-.-; 1.8.3.1; HSO; Nitrite reductase, mitochondrial", "protein_names_refseq": "sulfite oxidase, mitochondrial", "tax_id": 9606, "disease": "isolated sulfite oxidase deficiency (Disease Ontology:DOID:0111270); inherited metabolic disorder (Disease Ontology:DOID:655); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:6821); (R-HSA-1614517)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10519592;10585886;11237011;12112661;12368985;12832624;12832761;16475804;17459792;18494801;19136963;19793632;23163752;23481700;24275569;24981631;25576301;27289259;28904123;29557506;30429286;31154438;31844290;32157095;32350084;32357974;32502341;32983136;33298915;33392160;33537174;33592498;33912179;34171305;34932366;35051231;35251023;35580925;35896256;36010968;37187015;37441922;37938771;41337830;4441366;6361026;7599189;9428520;9600976", "class_list": "", "function": "Catalyzes the oxidation of sulfite to sulfate, the terminal reaction in the oxidative degradation of sulfur-containing amino acids (By similarity). Can run in reverse direction and reduce nitrite to nitric oxide under physiologically relevant conditions, such as hypoxia (PubMed:41337830)., [UniProtKB, UniProtKB, PubMed]; Epilepsy in sulfite oxidase deficiency and related disorders: insights from neuroimaging and genetics. Review article, [RefSeq, PubMed]; Mechanistic complexities of sulfite oxidase: An enzyme with multiple domains, subunits, and cofactors., [RefSeq, PubMed]; Predictive and Prognostic Value of SUOX Expression in Pancreatic Ductal Adenocarcinoma., [RefSeq, PubMed]; Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and a molybdopterin-binding domain. The enzyme catalyzes the oxidation of sulfite to sulfate, the final reaction in the oxidative degradation of the sulfur amino acids cysteine and methionine. Sulfite oxidase deficiency results in neurological abnormalities which are often fatal at an early age. Alternative splicing results in multiple transcript variants encoding identical proteins. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "", "ec_number_list": "1.8.3.1;1.7.-.-", "go_molecular_function": "GO:0030151 molybdenum ion binding;GO:0020037 heme binding;GO:0043546 molybdopterin cofactor binding;GO:0008482 sulfite oxidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006790 sulfur compound metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "P51687-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P48059-1", "uniprot_id": "LIMS1_HUMAN", "mass": 37251.0, "length": 325, "protein_name": "LIM and senescent cell antigen-like-containing domain protein 1", "gene_name": "LIMS1", "organism": "Human", "refseq_name": "LIM and senescent cell antigen-like-containing domain protein 1 isoform c", "refseq_ac": "NP_001180411", "gene_names_uniprotkb": "LIMS1; PINCH1; PINCH", "gene_names_refseq": "LIMS1; PINCH-1; PINCH1; PINCH", "protein_names_uniprotkb": "LIM and senescent cell antigen-like-containing domain protein 1; PINCH-1; Particularly interesting new Cys-His protein 1; Renal carcinoma antigen NY-REN-48", "protein_names_refseq": "LIM and senescent cell antigen-like domains 1; LIM and senescent cell antigen-like-containing domain protein 1 isoform c; LIM and senescent cell antigen-like-containing domain protein 1; LIM-type zinc finger domains 1; particularly interesting new Cys-His protein 1; renal carcinoma antigen NY-REN-48", "tax_id": 9606, "disease": "", "pathway": " (hsa:3987); (R-HSA-446343); (R-HSA-446353); (R-HSA-446388)", "pathway_count": 4, "publication_count": 78, "publication_id_list": "10022929;10508479;11078733;11237011;11331308;12432066;12499396;12665801;12679033;12794636;15005707;15159419;15817463;16531412;18212344;18436335;18508764;18940607;18991276;19074270;19117955;23783831;24895689;25279150;25576301;25892735;26154972;26375851;26992070;27600516;27846572;27862975;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29314611;29393594;29557506;29769354;29786170;29789417;30315122;30367047;31154438;31217245;31844290;31848261;32157095;32357974;32502341;32938616;32983136;33298915;33392160;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34171305;35051231;35580925;36010968;36241641;36284347;37938771;38618967;38665916;38927709;7517666;8538749;9843575", "class_list": "", "function": "LIM Zinc Finger Domain Containing 1 Risk Genotype of Recipient Is Associated with Renal Tubular Inflammation in Kidney Transplantation. Publication Status: Online-Only, [RefSeq, PubMed]; The RNA-binding protein RBMS3 inhibits the progression of colon cancer by regulating the stability of LIMS1 mRNA., [RefSeq, PubMed]; The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]., [RefSeq]; Within the IPP (ILK-PINCH-PARVIN) complex, binds to F-actin, promoting F-actin bundling, a process required to generate force for actin cytoskeleton reorganization and subsequent dynamic cell adhesion events such as cell spreading and migration., [UniProtKB, PubMed, 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": 7, "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": "B2RAJ4;B7Z483;B7Z7R3;B7Z907;Q53TE0;Q9BS44", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0008270 zinc ion binding;GO:0019901 protein kinase binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005925 focal adhesion", "go_biological_process": "GO:0045892 negative regulation of DNA-templated transcription;GO:0007160 cell-matrix adhesion;GO:0051017 actin filament bundle assembly;GO:0098609 cell-cell adhesion;GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "P48059-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51787-1", "uniprot_id": "KCNQ1_HUMAN", "mass": 74699.0, "length": 676, "protein_name": "Potassium voltage-gated channel subfamily KQT member 1", "gene_name": "KCNQ1", "organism": "Human", "refseq_name": "potassium voltage-gated channel subfamily KQT member 1 isoform 1", "refseq_ac": "NP_000209", "gene_names_uniprotkb": "KCNQ1; KCNA8; KCNA9; KVLQT1", "gene_names_refseq": "ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; KCNQ1; KVLQT1; Kv1.9; Kv7.1; LQT1; LQT; RWS; SQT2; WRS", "protein_names_uniprotkb": "Potassium voltage-gated channel subfamily KQT member 1; IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1; KQT-like 1; Voltage-gated potassium channel subunit Kv7.1", "protein_names_refseq": "IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1; kidney and cardiac voltage dependend K+ channel; potassium channel, voltage gated KQT-like subfamily Q, member 1; potassium voltage-gated channel subfamily KQT member 1 isoform 1; potassium voltage-gated channel, KQT-like subfamily, member 1; slow delayed rectifier channel subunit; voltage-gated potassium channel subunit Kv7.1", "tax_id": 9606, "disease": "familial atrial fibrillation (Disease Ontology:DOID:0050650); short QT syndrome (Disease Ontology:DOID:0050793); atrial fibrillation (Disease Ontology:DOID:0060224); long QT syndrome 1 (Disease Ontology:DOID:0110644); hypertension (Disease Ontology:DOID:10763); Jervell-Lange Nielsen syndrome (Disease Ontology:DOID:2842); long QT syndrome (Disease Ontology:DOID:2843); seminoma (Disease Ontology:DOID:4440); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:3784); (R-HSA-1296072); (R-HSA-5576890); (R-HSA-5576893)", "pathway_count": 4, "publication_count": 101, "publication_id_list": "10024302;10090886;10219239;10220144;10220146;10367071;10409658;10482963;10646604;10654932;10704188;10713961;10728423;10973849;11101505;11237011;11799244;12324418;12442276;12522251;15159330;15266014;15840476;16414944;16556865;16922724;16939434;16949586;18093912;18165683;18400097;18441444;18711366;18711367;19540844;19687231;19693805;19716085;19808498;20393197;20533308;21228319;21231794;21241800;22024150;22095730;23529131;24184248;24269949;24390345;24591645;24595108;24713462;24855057;25037568;25139741;25441029;25705178;25966690;27147833;28096388;28228285;29242379;29270100;29557506;31461851;31844290;31848261;31883792;32387766;34185709;34398675;35051231;35580925;38657442;38825991;39465874;39531497;7586312;8528244;8818942;8872472;8900283;9020845;9024139;9108097;9230439;9272155;9302275;9305853;9312006;9323054;9386136;9482580;9570196;9641694;9693036;9702906;9781056;9799083;9927399", "class_list": "", "function": "A mutation in the cardiac KV7.1 channel possibly disrupts interaction with Yotiao protein., [RefSeq, PubMed]; Genetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients., [RefSeq, PubMed]; KCNQ1 gene is imprinted in a tissue-specific manner, with preferential expression from the maternal allele in some tissues, excluding cardiac muscle., [RefSeq, PubMed]; Non-functional alone but modulatory when coexpressed with the full-length isoform 1., [UniProtKB, PubMed]; Novel associations between KCNQ1 rs231840 polymorphism and preeclampsia in Chinese gestational women: A case-control candidate genetic study., [RefSeq, PubMed]; Pore-forming subunit of the voltage-gated potassium (Kv) channel involved in the regulation of cardiomyocyte excitability and important in normal development and functions of myocardium, inner ear, stomach and colon (PubMed:10646604, PubMed:25441029). Associates with KCNE beta subunits that modulates current kinetics (PubMed:10646604, PubMed:11101505, PubMed:19687231, PubMed:8900283, PubMed:9108097, PubMed:9312006). Induces a voltage-dependent current by rapidly activating and slowly deactivating potassium-selective outward current (PubMed:10646604, PubMed:11101505, PubMed:25441029, PubMed:8900283, PubMed:9108097, PubMed:9312006). Also promotes a delayed voltage activated potassium current showing outward rectification characteristic (By similarity). During beta-adrenergic receptor stimulation, participates in cardiac repolarization by associating with KCNE1 to form the I(Ks) cardiac potassium current that increases the amplitude and slows down the activation kinetics of outward potassium current I(Ks) (By similarity) (PubMed:10646604, PubMed:11101505, PubMed:8900283, PubMed:9108097, PubMed:9312006). Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current (PubMed:10713961). When associated with KCNE3, forms the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions (PubMed:10646604). This interaction with KCNE3 is reduced by 17beta-estradiol, resulting in the reduction of currents (By similarity). During conditions of increased substrate load, maintains the driving force for proximal tubular and intestinal sodium ions absorption, gastric acid secretion, and cAMP-induced jejunal chloride ions secretion (By similarity). Allows the provision of potassium ions to the luminal membrane of the secretory canaliculus in the resting state as well as during stimulated acid secretion (By similarity). When associated with KCNE2, forms a heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505). When associated with KCNE4, inhibits voltage-gated potassium channel activity (PubMed:19687231). When associated with KCNE5, this complex only conducts current upon strong and continued depolarization (PubMed:12324418). Also forms a heterotetramer with KCNQ5; has a voltage-gated potassium channel activity (PubMed:24855057). Binds with phosphatidylinositol 4,5-bisphosphate (PubMed:25037568). KCNQ1-KCNE2 channel associates with Na(+)-coupled myo-inositol symporter in the apical membrane of choroid plexus epithelium and regulates the myo-inositol gradient between blood and cerebrospinal fluid with an impact on neuron excitability (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 17, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O00347;O60607;O94787;Q14D14;Q7Z6G9;Q92960;Q9UMN8;Q9UMN9", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005251 delayed rectifier potassium channel activity;GO:0086008 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization;GO:0086089 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization;GO:1902282 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization;GO:0034236 protein kinase A catalytic subunit binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0060453 regulation of gastric acid secretion;GO:0086011 membrane repolarization during action potential;GO:0098914 membrane repolarization during atrial cardiac muscle cell action potential;GO:0098915 membrane repolarization during ventricular cardiac muscle cell action potential;GO:1903817 negative regulation of voltage-gated potassium channel activity", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "P51787-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75379-1", "uniprot_id": "VAMP4_HUMAN", "mass": 16397.0, "length": 141, "protein_name": "Vesicle-associated membrane protein 4", "gene_name": "VAMP4", "organism": "Human", "refseq_name": "vesicle-associated membrane protein 4 isoform 2", "refseq_ac": "NP_001172056", "gene_names_uniprotkb": "VAMP4", "gene_names_refseq": "VAMP-4; VAMP24; VAMP4", "protein_names_uniprotkb": "Vesicle-associated membrane protein 4; VAMP-4", "protein_names_refseq": "VAMP4/TAF3 fusion; vesicle-associated membrane protein 4 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:8674); (R-HSA-6811440); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 4, "publication_count": 316, "publication_id_list": "10036234;10097102;10209123;10436022;10445031;10535736;10542231;10559856;10559861;10559924;10559959;10567358;10613896;10625686;10637310;10766823;10769163;10865125;10983987;10990452;11071885;11076969;11082044;11231140;11239472;11247302;11303027;11346801;11359012;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11689439;11827983;11839770;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12070132;12086608;12213833;12221107;12234931;12377769;12429842;12447393;12451172;12464600;12620188;12620189;12717448;12847086;12944396;12952949;12958364;1317852;14555962;14580338;14581451;14608369;14617351;14622578;14622579;14662753;14718928;14726597;15029241;15037235;15077113;15077114;15128430;15134832;15252009;15260957;15269279;15318165;15339664;15345747;1535555;15473838;15483056;15502812;15502813;15649145;15654769;15671180;15703209;15728179;15758030;15802264;15870108;15878329;15895077;15916959;16042553;16103228;16129887;16159959;16215232;16326391;16410077;16459302;16460808;16516836;16571679;16707488;16723738;16798879;16880396;16885419;16903783;16912714;16936697;17018281;17035995;17081983;17158794;17267500;17360967;17451557;17456551;17488291;17494869;17512409;17522231;17540576;17562788;17609109;17681954;17684057;17698061;17713526;17762867;17765681;17978091;18032517;18093523;18166656;18195106;18199683;18243103;18256213;18318008;18367545;18388313;18452278;1847920;18578522;18664496;18669648;18691976;18775314;18790740;18819912;18946081;18981233;19092055;19140243;19164740;19287005;19296720;19458185;19490898;19536138;19575674;19603039;19620288;19651622;19664994;1968060;19690332;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20058876;20059951;20068231;20166139;20211604;20231386;20351096;20428113;20448150;20685960;20826345;20946875;21102408;2115402;21183348;21187331;21278753;21316588;21406692;21421921;21436057;21445324;21482805;21499258;21613550;21689688;21779028;21807881;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22335553;22354037;22357968;22484487;22505844;2257624;22581368;22717455;22815487;22863004;22942912;23091056;23186163;23297414;23437303;23481700;23536704;23823722;23861397;23891661;24130457;24186068;24275569;24384571;24581490;24680432;24714562;24746795;24789820;24794632;24966051;25107275;25303366;25341920;25343031;25645385;26042225;26403691;26829388;26992070;28626000;28832583;2890644;30429286;30524438;31844290;31848261;32157095;32357974;32387766;32488085;32873436;32938616;33912179;33968037;34087483;3417785;34405274;34509645;35051231;36010968;36053215;37938771;6146630;7569928;7822302;7877694;7909812;8221884;8440258;8524399;8552632;8553074;8620540;8636227;8670882;8837779;9050864;9092476;9100026;9169477;9177194;9230071;9303539;9427626;9428629;9553086;9590177;9635431;9723620;9736607;9812899", "class_list": "", "function": "Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease., [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). VAMP4 is a v-SNARE that functions in vesicle fusion with the plasma membrane. In skeletal muscle satellite cells, VAMP4 cooperates with its cognate SNAREs STX11 and SNAP23 to facilitate CD36 vesicular transport from endosomes to the plasma membrane, an essential step in muscle regeneration (By similarity)., [UniProtKB, UniProtKB, PubMed]; Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. This protein may play a role in trans-Golgi network-to-endosome transport. [provided by RefSeq, Jul 2008]., [RefSeq]; VAMP4 regulates insulin levels by targeting secretory granules to lysosomes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A2IDD8;Q96IY9;Q96J20;Q9UEL7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0042996 regulation of Golgi to plasma membrane protein transport;GO:0090161 Golgi ribbon formation;GO:0032456 endocytic recycling;GO:0035493 SNARE complex assembly", "synthesized_glycan_count": 0, "hit_score": 31.7, "record_id": "O75379-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86SX6-1", "uniprot_id": "GLRX5_HUMAN", "mass": 16628.0, "length": 157, "protein_name": "Glutaredoxin-related protein 5, mitochondrial", "gene_name": "GLRX5", "organism": "Human", "refseq_name": "glutaredoxin-related protein 5, mitochondrial precursor", "refseq_ac": "NP_057501", "gene_names_uniprotkb": "GLRX5; C14orf87", "gene_names_refseq": "C14orf87; FLB4739; GLRX5; GRX5; PR01238; PRO1238; PRSA; SIDBA3; SPAHGC", "protein_names_uniprotkb": "Glutaredoxin-related protein 5, mitochondrial; Monothiol glutaredoxin-5", "protein_names_refseq": "epididymis secretory sperm binding protein; glutaredoxin 5 homolog; glutaredoxin-related protein 5, mitochondrial precursor; glutaredoxin-related protein 5, mitochondrial; monothiol glutaredoxin-5", "tax_id": 9606, "disease": "autosomal recessive pyridoxine-refractory sideroblastic anemia 3 (Disease Ontology:DOID:0080343); spasticity-ataxia-gait anomalies syndrome (MONDO:MONDO:0014803)", "pathway": " (hsa:51218); (R-HSA-1362409)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10639125;11237011;11823441;12785837;12886008;12947415;12970193;15509595;15952888;16110529;16847322;17331979;17485548;18319250;18339629;18425540;19454487;19731322;20068231;20364084;20522547;20668094;20873749;20877624;21029046;21298097;21776984;21944046;21987576;22077971;22101253;22306468;22323289;22352884;22511353;23615440;24334290;24733926;25342667;25347204;26016389;26016518;26100117;27989128;28001042;28904123;31844290;32542995;34063696;34357683;34732213;37217939", "class_list": "", "function": "Cluster exchange reactivity of [2Fe-2S]-bridged heterodimeric BOLA1-GLRX5., [RefSeq, PubMed]; GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome. Publication Status: Online-Only, [RefSeq, PubMed]; Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts, [RefSeq, PubMed]; Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2 Caused by CYS59TYR BOLA3 Mutation. Publication Status: Online-Only, [RefSeq, PubMed]; Monothiol glutaredoxin involved in mitochondrial iron-sulfur (Fe/S) cluster transfer (PubMed:20364084, PubMed:23615440). Receives 2Fe/2S clusters from scaffold protein ISCU and mediates their transfer to apoproteins, to the 4Fe/FS cluster biosynthesis machinery, or export from mitochondrion (PubMed:20364084, PubMed:23615440, PubMed:24334290). Required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1 (PubMed:20364084)., [UniProtKB, PubMed, PubMed, PubMed]; Mutations in GLRX5 is associated with sideroblastic-like microcytic anemia and iron overload, [RefSeq, PubMed]; No GLRX5 mutations were found among sixty CSA probands examined, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [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": 2, "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": "Q0X088;Q3YML0;Q86WY3;Q8IZ54", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0051537 2 iron, 2 sulfur cluster binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0030425 dendrite;GO:0043025 neuronal cell body", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0006879 intracellular iron ion homeostasis;GO:0030097 hemopoiesis;GO:0045454 cell redox homeostasis;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q86SX6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96G21-1", "uniprot_id": "IMP4_HUMAN", "mass": 33757.0, "length": 291, "protein_name": "U3 small nucleolar ribonucleoprotein protein IMP4", "gene_name": "IMP4", "organism": "Human", "refseq_name": "U3 small nucleolar ribonucleoprotein IMP4 isoform b", "refseq_ac": "NP_001307233", "gene_names_uniprotkb": "IMP4; BXDC4", "gene_names_refseq": "BXDC4; IMP4", "protein_names_uniprotkb": "U3 small nucleolar ribonucleoprotein protein IMP4; Brix domain-containing protein 4; U3 snoRNP protein IMP4", "protein_names_refseq": "IMP4 homolog, U3 small nucleolar ribonucleoprotein; IMP4, U3 small nucleolar ribonucleoprotein, homolog; U3 small nucleolar ribonucleoprotein IMP4 isoform b; U3 small nucleolar ribonucleoprotein IMP4; U3 small nucleolar ribonucleoprotein protein IMP4; U3 snoRNP protein 4 homolog; U3 snoRNP protein IMP4; brix domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:92856); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 119, "publication_id_list": "10606270;11081632;11237011;11922599;11935223;11978965;12068309;12150911;12417735;12655004;15199136;16037817;16043514;16381836;16533400;16738141;16782898;17189298;17353269;17412707;17636026;18065403;18438418;19033376;19106111;19332556;19463982;19564402;19801658;20038530;20047967;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22072790;22190735;22195017;22645359;22916032;23391857;23439679;23481700;23482395;2388630;24086612;24424021;24550520;24715725;25411247;25418920;25525153;25576301;25653167;25851604;25969445;26085946;26196125;26237581;26992070;27084949;27846572;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29632046;29786170;30315122;30379171;30410026;31217245;31530632;31844290;31848261;32265295;32350084;32387766;32938616;33123756;33141586;33298915;33592498;33633747;33691108;33912179;33936100;33968037;33973712;33981976;34171305;34405274;34516797;34561969;34932366;35051231;35561310;35580925;36241641;36284347;9211966;9482744;9512526", "class_list": "", "function": "Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing (PubMed:12655004). 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]; DDX10 promotes human lung carcinoma proliferation by U3 small nucleolar ribonucleoprotein IMP4., [RefSeq, PubMed]; The protein encoded by this gene, along with IMP3 and MPP10, is part of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP) complex. This complex is necessary for the early cleavage steps of pre-18S ribosomal RNA processing. 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": 4, "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": "Q3ZTT3", "ec_number_list": "", "go_molecular_function": "GO:0030515 snoRNA binding;GO:0042134 rRNA primary transcript binding", "go_cellular_component": "GO:0030684 preribosome;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0034457 Mpp10 complex;GO:0032040 small-subunit processome", "go_biological_process": "GO:0006364 rRNA processing;GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "Q96G21-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60372-1", "uniprot_id": "KR104_HUMAN", "mass": 40475.0, "length": 401, "protein_name": "Keratin-associated protein 10-4", "gene_name": "KRTAP10-4", "organism": "Human", "refseq_name": "keratin-associated protein 10-4", "refseq_ac": "NP_941960", "gene_names_uniprotkb": "KRTAP10-4; KAP10.4; KAP18-4; KRTAP10.4; KRTAP18-4; KRTAP18.4", "gene_names_refseq": "KAP10.4; KAP18-4; KRTAP10-4; KRTAP10.4; KRTAP18-4; KRTAP18.4", "protein_names_uniprotkb": "Keratin-associated protein 10-4; High sulfur keratin-associated protein 10.4; Keratin-associated protein 10.4; Keratin-associated protein 18-4; Keratin-associated protein 18.4", "protein_names_refseq": "high sulfur keratin-associated protein 10.4; keratin-associated protein 10-4; keratin-associated protein 18.4", "tax_id": 9606, "disease": "", "pathway": " (hsa:386672); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "15028290;15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;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., [UniProtKB]; This is an intronless gene located in a cluster of related genes on the q arm of chromosome 21. The proteins encoded by these genes form disulfide bonds with cysteine residues in hair keratins, thereby contributing to the structure and stability of hair fibers. [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": 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": "Q08AS0", "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": 1.2, "record_id": "P60372-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N3R9-1", "uniprot_id": "PALS1_HUMAN", "mass": 77294.0, "length": 675, "protein_name": "Protein PALS1", "gene_name": "PALS1", "organism": "Human", "refseq_name": "protein PALS1 isoform 2", "refseq_ac": "NP_001243479", "gene_names_uniprotkb": "PALS1; MPP5", "gene_names_refseq": "MPP5; PALS1", "protein_names_uniprotkb": "Protein PALS1; MAGUK p55 subfamily member 5; Membrane protein, palmitoylated 5; Protein associated with Lin-7 1", "protein_names_refseq": "MAGUK p55 subfamily member 5; membrane palmitoylated protein 5; membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5); protein PALS1 isoform 2; protein PALS1; protein associated with LIN7 1, MAGUK family member; protein associated with Lin-7 1; protein associated with lin seven 1; stardust", "tax_id": 9606, "disease": "Leber congenital amaurosis (Disease Ontology:DOID:14791); kidney disease (Disease Ontology:DOID:557)", "pathway": " (hsa:64398); (R-HSA-420029); (R-HSA-9692912); (R-HSA-9705677)", "pathway_count": 4, "publication_count": 81, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11447115;11927608;11964389;12527193;12953056;15558731;15863617;15914641;16129888;16519681;16678097;17016520;17332497;17389395;17584769;17920587;18669648;18691976;19651622;19664994;19691289;19755384;20068231;20861307;21145499;21479189;22337881;23186163;23481700;24275569;24715725;25385611;25576301;25645385;25760605;25880248;26375851;26992070;27466317;27600516;27846572;27920218;28832583;28834231;28904123;29242379;29331515;29557506;30379171;30429286;30779550;31092671;31530632;31844290;31848261;32157095;32161166;32488085;32502341;32822073;32891874;32938616;33592498;33691108;33864728;33912179;33968037;33981976;34019948;34103506;34106957;34117354;35051231;35318648;35580925;36010968;36494580;37217939;37938771", "class_list": "", "function": "(Microbial infection) Acts as an interaction partner for human coronaviruses SARS-CoV and, probably, SARS-CoV-2 envelope protein E which results in delayed formation of tight junctions and disregulation of cell polarity., [UniProtKB, PubMed, PubMed]; Pals1 functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost., [RefSeq, PubMed]; Pals1 functions in redundancy with SMAP1 to inhibit Arf6 in order to prevent Rac1-dependent colorectal cancer cell migration and invasion., [RefSeq, PubMed]; Plays a role in tight junction biogenesis and in the establishment of cell polarity in epithelial cells (PubMed:16678097, PubMed:25385611). Also involved in adherens junction biogenesis by ensuring correct localization of the exocyst complex protein EXOC4/SEC8 which allows trafficking of adherens junction structural component CDH1 to the cell surface (By similarity). Plays a role through its interaction with CDH5 in vascular lumen formation and endothelial membrane polarity (PubMed:27466317). Required during embryonic and postnatal retinal development (By similarity). Required for the maintenance of cerebellar progenitor cells in an undifferentiated proliferative state, preventing premature differentiation, and is required for cerebellar histogenesis, fissure formation, cerebellar layer organization and cortical development (By similarity). Plays a role in neuronal progenitor cell survival, potentially via promotion of mTOR signaling (By similarity). Plays a role in the radial and longitudinal extension of the myelin sheath in Schwann cells (By similarity). May modulate SC6A1/GAT1-mediated GABA uptake by stabilizing the transporter (By similarity). Plays a role in the T-cell receptor-mediated activation of NF-kappa-B (PubMed:21479189). Required for localization of EZR to the apical membrane of parietal cells and may play a role in the dynamic remodeling of the apical cytoskeleton (By similarity). Required for the normal polarized localization of the vesicular marker STX4 (By similarity). Required for the correct trafficking of the myelin proteins PMP22 and MAG (By similarity). Involved in promoting phosphorylation and cytoplasmic retention of transcriptional coactivators YAP1 and WWTR1/TAZ which leads to suppression of TGFB1-dependent transcription of target genes such as CCN2/CTGF, SERPINE1/PAI1, SNAI1/SNAIL1 and SMAD7 (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Structural basis for SARS-CoV-2 envelope protein recognition of human cell junction protein PALS1. Publication Status: Online-Only, [RefSeq, PubMed]; Structural basis of coronavirus E protein interactions with human PALS1 PDZ domain. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289). 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": 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": 3, "reported_glycation": 0, "reported_snv": 17, "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": "A1L380;Q7Z631;Q86T98;Q8N7I5;Q9H9Q0", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0017015 regulation of transforming growth factor beta receptor signaling pathway;GO:0016332 establishment or maintenance of polarity of embryonic epithelium;GO:0072659 protein localization to plasma membrane;GO:0021987 cerebral cortex development;GO:0032287 peripheral nervous system myelin maintenance", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q8N3R9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P13645-1", "uniprot_id": "K1C10_HUMAN", "mass": 58827.0, "length": 584, "protein_name": "Keratin, type I cytoskeletal 10", "gene_name": "KRT10", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "KRT10; KPP", "gene_names_refseq": "", "protein_names_uniprotkb": "Keratin, type I cytoskeletal 10; CK-10; Cytokeratin-10; K10; Keratin-10", "protein_names_refseq": "", "tax_id": 9606, "disease": "epidermolytic hyperkeratosis 2B (Disease Ontology:DOID:0061208); epidermolytic hyperkeratosis 2A (Disease Ontology:DOID:0061223); epidermolytic hyperkeratosis (Disease Ontology:DOID:4603); ichthyosis histrix, Lambert type (MONDO:MONDO:0007809); congenital reticular ichthyosiform erythroderma (MONDO:MONDO:0012208); ichthyosis, annular epidermolytic 1 (MONDO:MONDO:0100303)", "pathway": " (hsa:3858); (R-HSA-6805567); (R-HSA-6809371); (R-HSA-9725554)", "pathway_count": 4, "publication_count": 173, "publication_id_list": "10.1074/mcp.M114.046862;10066784;10196183;10201536;10231017;10411887;10588656;10771479;11237011;11350120;11380615;11590230;12067728;12427098;12624109;1286667;12902340;1371013;1378806;1380725;1381287;14654843;15033990;15140226;15234001;15337775;15373777;15385531;15556625;15675955;15780751;15797384;15803139;16061697;16297201;16382671;16505000;16639001;1691188;1694855;1714783;17330888;17515931;17521629;17562024;17596512;18219278;18691976;18843291;19190773;19194479;19474805;19627498;19924134;20179351;20302579;20657595;20667819;20798280;20940292;21271994;21439340;21654840;21997417;22719251;22735594;23186163;23283814;23481192;23481700;23629652;2414304;24430336;2448602;2459124;2464696;24794495;24940650;25208914;25428506;25645385;25813380;25926655;26154972;26340985;26375851;26390218;26768311;26853435;26992070;27212473;27452731;27595935;27600516;27726376;27862975;27893789;27920218;28218747;28228285;28467828;28649982;28904123;29314611;29351928;29393594;29437277;29508533;29557506;29786170;30315122;30410026;30429286;30524438;30626607;30905808;31217245;31399284;31611695;31844290;31998317;32157095;32161166;32179842;32350084;32357974;32373127;32387766;32488085;32502341;32897882;32938616;33043033;33091337;33123756;33214551;33298915;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34211107;34357683;35051231;35083852;35561310;35580925;36010968;36215666;36241641;37217939;37938771;39990658;40596516;41018975;7507150;7507152;7508181;7509230;7512983;7526210;7543090;8824274;8999895;9036939;9395522;9468612;9565599;9856845", "class_list": "", "function": "(Microbial infection) Acts as a mediator of S.aureus adherence to desquamated nasal epithelial cells via clfB, and hence may play a role in nasal colonization., [UniProtKB, PubMed]; (Microbial infection) Binds S.pneumoniae PsrP, mediating adherence of the bacteria to lung cell lines. Reduction of levels of KRT10 keratin decrease adherence, overexpression increases adherence. Neither protein has to be glycosylated for the interaction to occur., [UniProtKB, PubMed]; Plays a role in the establishment of the epidermal barrier on plantar skin. Involved in the maintenance of cell layer development and keratin filament bundles in suprabasal cells of the epithelium., [UniProtKB, UniProtKB]; Structural component of intermediate filaments in suprabasal keratinocytes of stratified epithelia. Forms heteropolymers primarily with the type II keratin KRT1, and also with KRT2, assembling into intermediate filament networks that support terminal differentiation, mechanical resilience, and epidermal barrier formation., [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": 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q14664;Q8N175", "ec_number_list": "", "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0030280 structural constituent of skin epidermis;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0030216 keratinocyte differentiation;GO:0051290 protein heterotetramerization;GO:0045109 intermediate filament organization;GO:0045684 positive regulation of epidermis development;GO:0002009 morphogenesis of an epithelium", "synthesized_glycan_count": 0, "hit_score": 18.2, "record_id": "P13645-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P12268-1", "uniprot_id": "IMDH2_HUMAN", "mass": 55805.0, "length": 514, "protein_name": "Inosine-5'-monophosphate dehydrogenase 2", "gene_name": "IMPDH2", "organism": "Human", "refseq_name": "inosine-5'-monophosphate dehydrogenase 2 isoform 2", "refseq_ac": "NP_000875", "gene_names_uniprotkb": "IMPDH2; IMPD2; IMPDH", "gene_names_refseq": "IMPD2; IMPDH-II; IMPDH2", "protein_names_uniprotkb": "Inosine-5'-monophosphate dehydrogenase 2; 1.1.1.205; IMP dehydrogenase 2; IMP dehydrogenase II; IMPD 2; IMPDH 2; IMPDH-II; Inosine-5'-monophosphate dehydrogenase type II", "protein_names_refseq": "IMP (inosine 5'-monophosphate) dehydrogenase 2; IMP (inosine monophosphate) dehydrogenase 2; IMP dehydrogenase II; IMP oxireductase 2; IMPD 2; IMPDH 2; epididymis secretory sperm binding protein; inosine 5' phosphate dehydrogenase 2; inosine monophosphate dehydrogenase type II; inosine-5'-monophosphate dehydrogenase 2 isoform 2; inosine-5'-monophosphate dehydrogenase 2; inosine-5'-monophosphate dehydrogenase type II", "tax_id": 9606, "disease": "", "pathway": " (hsa:3615); (R-HSA-6798695); (R-HSA-73817); (R-HSA-9679191); (R-HSA-9748787)", "pathway_count": 5, "publication_count": 199, "publication_id_list": "10087012;10097070;10840050;10958654;11096114;11237011;11381136;12435799;12450384;12697733;14529546;14654843;14766016;15592455;15747503;15786719;15850391;1592113;16075062;16115318;16408927;16522641;16530731;16717136;17081983;17224163;17301077;17322306;17496727;17662961;17996297;18388293;18609073;18669648;19007248;19413330;19608861;19651622;19664994;1967654;19691289;1969416;197968;20068231;20216118;20223979;20305658;211390;21320556;2147474;21723252;2183217;21960835;22401777;22444596;22552008;22814904;23096567;23186163;23301498;23481700;23641311;23650620;23816837;24272870;24275569;24477477;24584101;24714562;24715725;24824603;24974183;25502872;25505266;25576301;25645385;25801024;26002965;26154972;26238318;26375851;26728094;26768311;26992070;27397612;27846572;27862975;28063628;28228285;28425720;28514659;28649982;28832583;28834231;28904123;28985504;2902093;29242379;29314611;29331515;29351928;29393594;29482072;29493099;29508533;29557506;29632046;29632711;29786170;29789417;29945920;30201761;30293565;30315122;30397120;30429286;30484775;30524438;30779550;30833945;30987408;31048504;31154438;31217245;31222486;31337707;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32305001;32350084;32387766;32488085;32870666;32897882;32938616;32983136;33141586;33214551;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35580925;36010968;36241641;36284347;37907047;37938771;38310229;38665916;39075237;39085725;39990658;40596516;40914422;4348202;4726295;5767308;657528;6989049;762062;7706277;7763314;7896827;7903306;7999076;8089153;8098009;8110788;8226881;8366112;8380692;8567683;8670112;8692836;9099726;9132023;942489", "class_list": "", "function": "Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth (PubMed:7763314, PubMed:7903306). Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism (PubMed:14766016). It may also have a role in the development of malignancy and the growth progression of some tumors., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, HAMAP, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency., [RefSeq, PubMed]; IMPDH2 suppression impedes cell proliferation by instigating cell cycle arrest and stimulates apoptosis in pediatric hepatoblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Single-cell RNA sequencing in double-hit lymphoma: IMPDH2 induces the progression of lymphoma by activating the PI3K/AKT/mTOR signaling pathway. Erratum:[Int Immunopharmacol. 2024 Jan 5;126:111292. doi: 10.1016/j.intimp.2023.111292. PMID: 38042635], [RefSeq, PubMed]; This gene encodes the rate-limiting enzyme in the de novo guanine nucleotide biosynthesis. It is thus involved in maintaining cellular guanine deoxy- and ribonucleotide pools needed for DNA and RNA synthesis. The encoded protein catalyzes the NAD-dependent oxidation of inosine-5'-monophosphate into xanthine-5'-monophosphate, which is then converted into guanosine-5'-monophosphate. This gene is up-regulated in some neoplasms, suggesting it may play a role in malignant transformation. [provided by RefSeq, Jul 2008]., [RefSeq]; Wnt/beta-catenin signalling activates IMPDH2-mediated purine metabolism to facilitate oxaliplatin resistance by inhibiting caspase-dependent apoptosis 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": 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": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6LEF3", "ec_number_list": "3.4.19.12;3.6.4.13;2.7.1.35;1.1.1.42;2.4.2.1;3.4.21.46;1.16.3.1;1.11.1.6;4.1.2.13;2.4.1.1;5.3.1.9;5.1.3.-;3.4.23.5;3.4.22.52;2.4.2.7;3.4.22.1;3.6.4.10;3.2.1.31;2.5.1.18;2.7.10.2;1.13.11.-;1.13.11.34;3.3.2.6;3.4.11.4;1.11.1.7;1.1.1.205;4.2.99.18;5.6.2.4;3.6.5.-;4.2.1.24;3.4.19.1;5.3.2.1;5.3.3.12;2.7.11.1;2.7.1.40;3.4.24.35;3.1.6.14;3.1.6.12;3.2.1.23;2.7.1.11;5.4.2.11;5.4.2.4;2.7.4.6;2.7.13.3;3.4.22.27;2.7.11.24;3.5.4.5;5.4.2.2;2.4.1.186;3.6.1.-;2.7.1.1;2.7.1.-;2.3.3.8;3.6.4.6;5.2.1.8;3.1.1.47;3.1.1.-;3.5.4.6;1.11.1.24;2.7.11.39;3.5.1.23;3.5.1.-;3.5.1.109;2.7.11.22;2.7.11.23;2.3.2.5;2.3.2.26;3.6.1.6;5.4.2.7;3.4.25.1;2.3.2.27;3.4.18.1;4.1.2.4", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0046872 metal ion binding;GO:0000166 nucleotide binding;GO:0003938 IMP dehydrogenase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005778 peroxisomal membrane;GO:0005829 cytosol", "go_biological_process": "GO:0007623 circadian rhythm;GO:0006177 GMP biosynthetic process;GO:0006183 GTP biosynthetic process;GO:0097294 'de novo' XMP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 20.3, "record_id": "P12268-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P19823-1", "uniprot_id": "ITIH2_HUMAN", "mass": 106463.0, "length": 946, "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H2", "gene_name": "ITIH2", "organism": "Human", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H2 precursor", "refseq_ac": "NP_002207", "gene_names_uniprotkb": "ITIH2; IGHEP2", "gene_names_refseq": "H2P; ITI-HC2; ITIH2; SHAP", "protein_names_uniprotkb": "Inter-alpha-trypsin inhibitor heavy chain H2; ITI heavy chain H2; ITI-HC2; Inter-alpha-inhibitor heavy chain 2; Inter-alpha-trypsin inhibitor complex component II; SHAP; Serum-derived hyaluronan-associated protein", "protein_names_refseq": "ITI heavy chain H2; inter-alpha (globulin) inhibitor H2; inter-alpha (globulin) inhibitor, H2 polypeptide; inter-alpha-inhibitor heavy chain 2; inter-alpha-trypsin inhibitor complex component II; inter-alpha-trypsin inhibitor heavy chain H2 precursor; inter-alpha-trypsin inhibitor heavy chain H2; serum-derived hyaluronan-associated protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:3698); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 3, "publication_count": 139, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12754519;12810533;12904166;1370451;1383255;1384548;15126567;15308688;15345747;15469690;15485880;15525596;15642270;16335952;17047378;17249697;17312271;17985932;19159218;19562805;19824718;22171320;23090970;23584533;24275569;2446322;2450046;2462430;24715725;2476436;2476804;2479552;25813380;26091039;26598643;26728454;26758079;26992070;28228285;28467828;28514659;28649982;28855257;28904123;29314611;29391424;29437277;29557506;29632711;29671580;29741879;30237853;30397120;30459171;31484722;31611695;31717259;31844290;31848261;32157095;32162841;32350084;32357974;32387766;32938616;33043033;33298915;33392160;33912179;33936100;33968037;34087483;34171305;34357683;34509645;35051231;35154160;35251023;35318648;35580925;36010968;36215666;36284347;3663330;37074911;37340703;38665916;7504674;7513643;7516184;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7682553;7683646;7689487;8781553;8817670;8894645;8964575;9425062;9497324;9677337;9709957;9733769;9786878;9922210", "class_list": "", "function": "Both IalphaI and the HC-hyaluronan complex are substrates for the extracellular matrix proteases ADAMTS-5 and matrix metalloprotease (MMP) -3, -7, and -13., [RefSeq, PubMed]; Data suggest that Mg2+ or Mn2+ (but not Ca2+) induce a conformational change in inter-alpha-inhibitor (ITIH1 and ITIH2) and a bikunin/chondroitin sulfate-dependent increase in thermodynamic stability; bikunin binds adjacent to the two heavy chains., [RefSeq, PubMed]; May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes., [UniProtKB]; The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, 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": 2, "reported_o_glycosites": 4, "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": 4, "total_reported_o_glycosites": 14, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 14, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 51, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 62, "disease_count": 0, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "Q14659;Q15484;Q5T986", "ec_number_list": "", "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0004866 endopeptidase inhibitor activity;GO:0005540 hyaluronic acid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0030212 hyaluronan metabolic process", "synthesized_glycan_count": 0, "hit_score": 22.0, "record_id": "P19823-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NX62-1", "uniprot_id": "IMPA3_HUMAN", "mass": 38681.0, "length": 359, "protein_name": "Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase", "gene_name": "BPNT2", "organism": "Human", "refseq_name": "Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase", "refseq_ac": "NP_060283", "gene_names_uniprotkb": "BPNT2; IMPA3; IMPAD1", "gene_names_refseq": "BPNT2; GPAPP; IMP 3; IMP-3; IMPA3; IMPAD1", "protein_names_uniprotkb": "Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase; 3'(2'), 5'-bisphosphate nucleotidase 2; 3.1.3.7; Golgi-resident PAP phosphatase; Inositol monophosphatase domain-containing protein 1; Myo-inositol monophosphatase A3; Phosphoadenosine phosphate 3'-nucleotidase; gPAPP", "protein_names_refseq": "Golgi 3-prime phosphoadenosine 5-prime phosphate 3-prime phosphatase; Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase; IMPase 3; golgi-resident PAP phosphatase; golgi-resident nucleotide phosphatase; inositol monophosphatase domain containing 1; inositol monophosphatase domain-containing protein 1; inositol-1(or 4)-monophosphatase 3; myo-inositol monophosphatase A3; phosphoadenosine phosphate 3'-nucleotidase", "tax_id": 9606, "disease": "chondrodysplasia with joint dislocations gPAPP type (Disease Ontology:DOID:0112224)", "pathway": " (hsa:54928); (R-HSA-156584)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10199779;10224133;10503886;10512730;11077054;11154739;11237011;11457664;11739018;12039030;12145317;12372849;12889478;14622112;14672934;15358107;18606703;18672380;18695242;21549340;2268288;22887726;23090970;23479625;23481380;23584533;24190977;24714562;25502872;25576301;25732826;25813380;26154972;26728094;28832583;29242379;29314611;29741879;30315122;30459171;31217245;31844290;31848261;31998317;32157095;32161166;32350084;32417395;32938616;32983136;33298915;33592498;33717175;33912179;33936100;33968037;34171305;34357683;34561969;34932366;35051231;35154160;35251023;35318648;35494241;36284347;36650118;38665916;6139755;6770210;7678732;7779757;8185618;8697101;9034160;9463486;9501187;9566739;9852044", "class_list": "", "function": "Affected individuals carried homozygous missense mutations in IMPAD1, the gene coding for gPAPP, a Golgi-resident nucleotide phosphatase that hydrolyzes phosphoadenosine phosphate (PAP), the byproduct of sulfotransferase reactions, to AMP., [RefSeq, PubMed]; Concluded that IMPAD1 should be screened for patients with Catel-Manzke and additional features, [RefSeq, PubMed]; Exhibits 3'-nucleotidase activity toward adenosine 3',5'-bisphosphate (PAP), namely hydrolyzes adenosine 3',5'-bisphosphate into adenosine 5'-monophosphate (AMP) and a phosphate. May play a role in the formation of skeletal elements derived through endochondral ossification, possibly by clearing adenosine 3',5'-bisphosphate produced by Golgi sulfotransferases during glycosaminoglycan sulfation. Has no activity toward 3'-phosphoadenosine 5'-phosphosulfate (PAPS) or inositol phosphate (IP) substrates including I(1)P, I(1,4)P2, I(1,3,4)P3, I(1,4,5)P3 and I(1,3,4,5)P4., [UniProtKB, UniProtKB]; IMPAD1 functions as mitochondrial electron transport inhibitor that prevents ROS production and promotes lung cancer metastasis through the AMPK-Notch1-HEY1 pathway., [RefSeq, PubMed]; LncRNA BC promotes lung adenocarcinoma progression by modulating IMPAD1 alternative splicing., [RefSeq, PubMed]; This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [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": 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": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 16, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q6NVY7", "ec_number_list": "3.1.3.57;3.1.3.7", "go_molecular_function": "GO:0008254 3'-nucleotidase activity;GO:0097657 3',5'-nucleotide bisphosphate phosphatase activity;GO:0046872 metal ion binding;GO:0008441 3'(2'),5'-bisphosphate nucleotidase activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005796 Golgi lumen;GO:0016020 membrane;GO:0032588 trans-Golgi network membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0001501 skeletal system development;GO:0046854 phosphatidylinositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q9NX62-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NZL9-1", "uniprot_id": "MAT2B_HUMAN", "mass": 37552.0, "length": 334, "protein_name": "Methionine adenosyltransferase 2 subunit beta", "gene_name": "MAT2B", "organism": "Human", "refseq_name": "methionine adenosyltransferase 2 subunit beta isoform 1", "refseq_ac": "NP_037415", "gene_names_uniprotkb": "MAT2B; MSTP045; Nbla02999; PRO4995; TGR", "gene_names_refseq": "MAT-II; MAT2B; MATIIbeta; Nbla02999; SDR23E1; TGR", "protein_names_uniprotkb": "Methionine adenosyltransferase 2 subunit beta; MAT II beta; Methionine adenosyltransferase II beta; Putative dTDP-4-keto-6-deoxy-D-glucose 4-reductase", "protein_names_refseq": "MAT II beta; beta regulatory subunit of methionine adenosyltransferase; dTDP-4-keto-6-deoxy-D-glucose 4-reductase; methionine adenosyltransferase 2 subunit beta isoform 1; methionine adenosyltransferase 2 subunit beta; methionine adenosyltransferase 2B; methionine adenosyltransferase II, beta; putative dTDP-4-keto-6-deoxy-D-glucose 4-reductase; putative protein product of Nbla02999; short chain dehydrogenase/reductase family 23E, member 1; testicular tissue protein Li 118", "tax_id": 9606, "disease": "", "pathway": " (hsa:27430); (R-HSA-156581); (R-HSA-5689880)", "pathway_count": 3, "publication_count": 178, "publication_id_list": "10331075;10444327;10514445;10644686;10978155;10982817;11230166;11237011;11337507;11511179;11566882;11923872;12163696;12590576;12671891;12880961;12917689;12917691;12975309;13981612;14661020;15053880;15788214;15916963;16214042;16267626;16407288;16901786;16964248;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18539146;18632802;18636086;18669648;19015242;19135894;19188362;19363159;19398555;19424180;19664994;19838211;19874889;19910467;20096447;20228808;20368735;20501646;21193388;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;22544926;23159851;23186163;23189196;23395819;23425511;23486064;23824326;23825189;24056413;24260525;24366607;24493797;24715725;24734162;24896179;25075345;25197364;25305019;25578727;25645385;25892735;26154972;26811146;26992070;27570878;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30410026;30429286;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33123756;33141586;33214551;33298915;33392160;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34229054;34405274;34509645;34561969;34725712;34780697;34932366;35051231;35154160;35251023;35318648;35580925;36010968;36219356;36241641;36284347;36581221;37938771;38665916;40596516;7578059;8968737;9175157;9586999", "class_list": "", "function": "CircMAT2B facilitates the progression of head and neck squamous cell carcinoma via sponging miR-491-5p to trigger ASCT2-mediated glutaminolysis., [RefSeq, PubMed]; Human Mat2A Uses an Ordered Kinetic Mechanism and Is Stabilized but Not Regulated by Mat2B., [RefSeq, PubMed]; Regulatory subunit of S-adenosylmethionine synthetase 2, an enzyme that catalyzes the formation of S-adenosylmethionine from methionine and ATP. Regulates MAT2A catalytic activity by changing its kinetic properties, increasing its affinity for L-methionine (PubMed:10644686, PubMed:23189196, PubMed:25075345). Can bind NADP (in vitro) (PubMed:23189196, PubMed:23425511)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene belongs to the methionine adenosyltransferase (MAT) family. MAT catalyzes the biosynthesis of S-adenosylmethionine from methionine and ATP. This protein is the regulatory beta subunit of MAT. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2R5Y6;Q1WAI7;Q27J92;Q3LIE8;Q567T7;Q6NYC7;Q9BS89;Q9H3E1;Q9UJ54", "ec_number_list": "", "go_molecular_function": "GO:0019899 enzyme binding;GO:0030234 enzyme regulator activity;GO:0016740 transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0048269 methionine adenosyltransferase complex", "go_biological_process": "GO:0006730 one-carbon metabolic process;GO:0006556 S-adenosylmethionine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "Q9NZL9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P18124-1", "uniprot_id": "RL7_HUMAN", "mass": 29226.0, "length": 248, "protein_name": "Large ribosomal subunit protein uL30", "gene_name": "RPL7", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL30 isoform 1", "refseq_ac": "NP_000962", "gene_names_uniprotkb": "RPL7", "gene_names_refseq": "L7; RPL7; humL7-1; uL30", "protein_names_uniprotkb": "Large ribosomal subunit protein uL30; 60S ribosomal protein L7", "protein_names_refseq": "60S ribosomal protein L7; large ribosomal subunit protein uL30 isoform 1; large ribosomal subunit protein uL30", "tax_id": 9606, "disease": "", "pathway": " (hsa:6129); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72689); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954709); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 17, "publication_count": 308, "publication_id_list": "10358005;10513815;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875071;11922599;11929585;11964406;12042320;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;12962325;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;14978097;15034551;15104674;15317934;15385533;15534230;15546618;15592455;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18452278;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;21654843;21872626;22072790;22121020;22190735;22195017;22916032;23085078;23186163;23217742;23234702;23269699;23439679;23481700;23482395;23555621;23636399;23685075;23746841;2388630;24029068;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25469497;25502872;25525153;25576301;25578875;25645385;25802875;25810538;25892735;25969445;26100019;26154972;26237581;26375851;26728094;26811146;26992070;27452731;27526673;27543614;27600516;27846572;27862975;27920218;28063628;28065601;28132843;28228285;28467828;28510447;28685749;28832583;28834231;28855257;28860189;28904123;29242379;29331515;29393594;29413899;29493099;29508533;29557506;29632046;29632312;29632711;29774024;29786170;29789417;30244831;30293783;30315122;30397120;30410026;30484775;30524438;30573663;30779550;30804176;30833945;31011209;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32099016;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32522876;32579943;32669547;32797159;32897882;32938616;32983136;33141586;33214551;33298915;33406423;33537174;33592498;33691108;33717175;33909987;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35083852;35138101;35251023;35318648;35561310;35580925;36010968;36241641;36284347;36302773;36581221;37217939;37676773;37938771;38665916;39990658;40914422;429297;592398;592399;641056;6568109;6901506;7862521;7990965;8336711;8360149;8407925;8441630;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:32669547). Binds to G-rich structures in 28S rRNA and in mRNAs (PubMed:12962325). Plays a regulatory role in the translation apparatus; inhibits cell-free translation of mRNAs (PubMed:12962325)., [UniProtKB, PubMed, PubMed, PubMed]; Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Binds to G-rich structures in 28S rRNA and in mRNAs. Plays a regulatory role in the translation apparatus; inhibits cell-free translation of mRNAs., [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 60S subunit. The protein belongs to the L30P family of ribosomal proteins. It contains an N-terminal basic region-leucine zipper (BZIP)-like domain and the RNP consensus submotif RNP2. In vitro the BZIP-like domain mediates homodimerization and stable binding to DNA and RNA, with a preference for 28S rRNA and mRNA. The protein can inhibit cell-free translation of mRNAs, suggesting that it plays a regulatory role in the translation apparatus. It is located in the cytoplasm. The protein has been shown to be an autoantigen in patients with systemic autoimmune diseases, such as systemic lupus erythematosus. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; The nucleic acid chaperone activity of the HIV-1 Gag polyprotein is boosted by its cellular partner RPL7: a kinetic 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8K504;Q15289;Q3KQU0;Q5I0X1;Q6IBM9", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0042802 identical protein binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0042273 ribosomal large subunit biogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction", "synthesized_glycan_count": 0, "hit_score": 31.1, "record_id": "P18124-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5XKE5-1", "uniprot_id": "K2C79_HUMAN", "mass": 57836.0, "length": 535, "protein_name": "Keratin, type II cytoskeletal 79", "gene_name": "KRT79", "organism": "Human", "refseq_name": "keratin, type II cytoskeletal 79", "refseq_ac": "NP_787028", "gene_names_uniprotkb": "KRT79; K6L; KB38; KRT6L", "gene_names_refseq": "K6L; KRT6L; KRT79", "protein_names_uniprotkb": "Keratin, type II cytoskeletal 79; CK-79; Cytokeratin-79; K79; Keratin-6-like; Keratin-6L; Keratin-79; Type-II keratin Kb38", "protein_names_refseq": "CK-79; K79; cytokeratin-79; keratin 6L; keratin 79, type II; keratin, type II cytoskeletal 79; type-II keratin Kb38", "tax_id": 9606, "disease": "", "pathway": " (hsa:338785); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 63, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11237011;11350120;11380615;11590230;11683385;12902340;15033990;15337775;15373777;15737194;15797384;15803139;16061697;16382671;16639001;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23301498;23481192;23629652;2414304;24198274;25208914;25926655;26390218;26853435;29557506;32157095;33968037;34019948;34357683;34561969;35051231;35580925;36241641;37217939;7543090;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in skeletal muscle, skin and scalp. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]., [RefSeq]; Migratory keratinocytes express keratin 79 and stream out of the hair germ and into the epidermis prior to lumen formation in the embryo., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6P465;Q7Z793", "ec_number_list": "", "go_molecular_function": "GO:0019899 enzyme binding;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "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": 6.6, "record_id": "Q5XKE5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NYM4-1", "uniprot_id": "GPR83_HUMAN", "mass": 48339.0, "length": 423, "protein_name": "G protein-coupled receptor 83", "gene_name": "GPR83", "organism": "Human", "refseq_name": "G-protein coupled receptor 83 isoform 1 precursor", "refseq_ac": "NP_057624", "gene_names_uniprotkb": "GPR83; GPR72; JP05; KIAA1540", "gene_names_refseq": "GIR; GPR72; GPR83", "protein_names_uniprotkb": "G protein-coupled receptor 83; G protein-coupled receptor 72", "protein_names_refseq": "G-protein coupled receptor 72; G-protein coupled receptor 83 isoform 1 precursor; glucocorticoid induced receptor; probable G-protein coupled receptor 83", "tax_id": 9606, "disease": "", "pathway": " (hsa:10888); (R-HSA-418555)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10760605;11007482;11720708;12036966;12058044;12106601;12180353;12860470;13549488;14671004;1517224;15765929;15769620;15951850;16313925;16687412;16785516;16923326;17168849;18044684;18577758;19105585;19876791;19929708;20200545;20381629;21036126;2163110;2417744;24687066;2491850;2553411;2553705;26417854;27117253;28228285;2871555;29443750;29602314;29769354;30833991;31154438;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32713278;32715661;33049737;35051231;36853120;37689599;37894796;6085243;8340388;8514797;8672451;9263355;9417641;9651336", "class_list": "", "function": "A Pilot Screen of a Novel Peptide Hormone Library Identified Candidate GPR83 Ligands., [RefSeq, PubMed]; G protein-coupled peptide receptor (PubMed:27117253, PubMed:37689599). Several peptides, PEN, derived from the proSAAS precursor (encoded by PCSK1N), the procholecystokinin-derived peptide proCCK56-63, and the related proteins FAM237A and FAM237B have been reported to activate GPR83 through GNAI1/G(i) and GNAS/G(s)-mediated signaling pathways (PubMed:27117253, PubMed:32713278, PubMed:36853120, PubMed:37689599). However, due to conflicting evidence about the ability of these peptides to bind to and activate the GPR83, the endogenous ligand of GPR83 still remains uncertain (PubMed:36853120, PubMed:37894796). Plays a role in food intake and body weight regulation. May contribute to the regulation of anxiety-related behaviors (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; GPR83 is 2- to 7-fold up-regulated in all indvidual human CD4+CD25+ T regulatory cell populations analyzed and is directly linked to Foxp3 expression., [RefSeq, PubMed]; Results suggest that the 20 additional aminoacids within GPR83 isoform-4 are involved in Treg induction during inflammatory immune responses, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "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": "B0M0K5;F5GZ43;Q6NWR4;Q9P1Y8", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008188 neuropeptide receptor activity;GO:0004983 neuropeptide Y receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium;GO:0097730 non-motile cilium", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0007631 feeding behavior", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q9NYM4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86YV0-1", "uniprot_id": "RASL3_HUMAN", "mass": 111898.0, "length": 1011, "protein_name": "RAS protein activator like-3", "gene_name": "RASAL3", "organism": "Human", "refseq_name": "RAS protein activator like-3 isoform 2", "refseq_ac": "NP_001334956", "gene_names_uniprotkb": "RASAL3", "gene_names_refseq": "RASAL3", "protein_names_uniprotkb": "RAS protein activator like-3", "protein_names_refseq": "RAS protein activator like-3 isoform 2", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037)", "pathway": " (hsa:64926); (R-HSA-5658442)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "11237011;11493923;12600938;12646235;12787671;15683364;1570011;16478641;19573811;19690332;20058876;2121370;22751498;22802525;23443682;23481700;23661552;23783831;24275569;24714562;24715725;24814062;25418920;25576301;25652366;25810538;26154972;26375851;26811146;26992070;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29317506;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;31844290;32157095;32265295;32357974;32387766;32502341;32938616;32983136;33091337;33123756;33141586;33298915;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34433824;34509645;34561969;34932366;35051231;35561310;35580925;36284347;36445333;37938771;8563751;9219684;9302992", "class_list": "", "function": "CD229 interacts with RASAL3 to activate RAS/ERK pathway in multiple myeloma proliferation. Erratum:[Aging (Albany NY). 2023 Aug 28;15(16):8528-8529. doi: 10.18632/aging.205006. PMID: 37635436], [RefSeq, PubMed]; Functions as a Ras GTPase-activating protein. Plays an important role in the expansion and functions of natural killer T (NKT) cells in the liver by negatively regulating RAS activity and the down-stream ERK signaling pathway., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Identified a novel Ras GTPase-activating proteins protein, RASAL3, which is predominantly expressed in cells of hematopoietic lineages, including NKT, B, and T cells, [RefSeq, PubMed]; This gene belongs to the Ras GTPase-activating proteins (RasGAP) family and encodes a protein with pleckstrin homology (PH), C2, and Ras GTPase-activation protein (RasGAP) domains. This protein is localized near or at the plasma membrane when expressed exogenously. Reduced expression of this gene in some cell lines resulted in increased levels of the active form of Ras (Ras-GTP), suggesting that this gene may play a role in negatively regulating the Ras signaling pathway. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q8N2T9;Q9H735", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005938 cell cortex;GO:0016020 membrane", "go_biological_process": "GO:0051142 positive regulation of NK T cell proliferation;GO:0046580 negative regulation of Ras protein signal transduction;GO:1902531 regulation of intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q86YV0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P47804-1", "uniprot_id": "RGR_HUMAN", "mass": 31874.0, "length": 291, "protein_name": "RPE-retinal G protein-coupled receptor", "gene_name": "RGR", "organism": "Human", "refseq_name": "RPE-retinal G protein-coupled receptor isoform 2", "refseq_ac": "NP_001012738", "gene_names_uniprotkb": "RGR", "gene_names_refseq": "RGR; RP44", "protein_names_uniprotkb": "RPE-retinal G protein-coupled receptor; RGR opsin", "protein_names_refseq": "RGR-opsin; RPE-retinal G protein-coupled receptor isoform 2; RPE-retinal G protein-coupled receptor", "tax_id": 9606, "disease": "retinitis pigmentosa 44 (Disease Ontology:DOID:0110394); retinitis pigmentosa (Disease Ontology:DOID:10584)", "pathway": " (hsa:5995); (R-HSA-418594); (R-HSA-419771)", "pathway_count": 3, "publication_count": 38, "publication_id_list": "10234000;10581022;10632589;11007482;11237011;12120503;1302020;14623103;1531728;1557123;15674243;15951850;16634148;16923326;18434541;18474598;18577758;2534964;2748346;2834384;28832583;2937147;29557506;31848261;32938616;34022179;34229535;35051231;36010968;37883094;38053380;38299232;6589631;7937899;7947717;8015379;8406495;9275222", "class_list": "", "function": "A pan-cancer analysis of RGR opsin expression and its downregulation associated with poor prognosis in glioma., [RefSeq, PubMed]; A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy., [RefSeq, PubMed]; Expression Analysis of Retinal G Protein-coupled Receptor and its Correlation with Regulation of the Balance between Proliferation and Aberrant Differentiation in Cutaneous Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Human RGR Gene and Associated Features of Age-Related Macular Degeneration in Models of Retina-Choriocapillaris Atrophy., [RefSeq, PubMed]; Non-visual opsin that functions as a light-dependent facilitator of retinoid isomerization and trafficking in retinal pigment epithelium (RPE) and Mueller glia (PubMed:18474598). Participates in a photic visual cycle by complementing the classical enzymatic RPE65/RDH pathway for chromophore regeneration (By similarity). Binds all-trans-retinal via a conserved Schiff-base lysine and, upon illumination, promotes photoisomerization of all-trans-retinal to 11-cis-retinal required for regeneration of visual pigments (By similarity). Also mediates light-dependent mobilization of stored all-trans-retinyl esters from lipid droplets to endoplasmic reticulum membranes, facilitating their processing into 11-cis-retinoids (PubMed:18474598). May also modulate isomerohydrolase activity independent of light (By similarity). Although RGR is structurally a GPCR-family opsin, there is no consistent evidence that RGR activates G proteins or initiates a canonical second-messenger signaling cascade (Probable)., [UniProtKB, UniProtKB, PubMed]; Proteopathy Linked to Exon-Skipping Isoform of RGR-Opsin Contributes to the Pathogenesis of Age-Related Macular Degeneration., [RefSeq, PubMed]; Receptor for all-trans- and 11-cis-retinal. Binds preferentially to the former and may catalyze the isomerization of the chromophore by a retinochrome-like mechanism., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a putative retinal G-protein coupled receptor. The gene is a member of the opsin subfamily of the 7 transmembrane, G-protein coupled receptor 1 family. Like other opsins which bind retinaldehyde, it contains a conserved lysine residue in the seventh transmembrane domain. The protein acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal. The reverse isomerization occurs with rhodopsin in retinal photoreceptor cells. The protein is exclusively expressed in tissue adjacent to retinal photoreceptor cells, the retinal pigment epithelium and Mueller cells. This gene may be associated with autosomal recessive and autosomal dominant retinitis pigmentosa (arRP and adRP, respectively). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NKK7;Q96FC5", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0016918 retinal binding;GO:0008020 G protein-coupled photoreceptor activity;GO:0009881 photoreceptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007601 visual perception;GO:0007602 phototransduction;GO:0071482 cellular response to light stimulus", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "P47804-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P25815-1", "uniprot_id": "S100P_HUMAN", "mass": 10400.0, "length": 95, "protein_name": "Protein S100-P", "gene_name": "S100P", "organism": "Human", "refseq_name": "protein S100-P", "refseq_ac": "NP_005971", "gene_names_uniprotkb": "S100P; S100E", "gene_names_refseq": "MIG9; S100P", "protein_names_uniprotkb": "Protein S100-P; MIG9; Migration-inducing gene 9 protein; Protein S100-E; S100 calcium-binding protein P", "protein_names_refseq": "migration-inducing gene 9 protein; protein S100-E; protein S100-P", "tax_id": 9606, "disease": "", "pathway": " (hsa:6286); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "12507480;12808036;14617629;14672411;15171681;15213440;1540168;15632002;1633809;19111582;21109482;22399290;22431641;23650620;25576301;32387766;33214551;35580925;36284347;37627296;37853345;37938771;38342601;38640980;8692836", "class_list": "", "function": "An Extracellular/Membrane-Bound S100P Pool Regulates Motility and Invasion of Human Extravillous Trophoblast Lines and Primary Cells. Publication Status: Online-Only, [RefSeq, PubMed]; May function as calcium sensor and contribute to cellular calcium signaling. In a calcium-dependent manner, functions by interacting with other proteins, such as EZR and PPP5C, and indirectly plays a role in physiological processes like the formation of microvilli in epithelial cells. May stimulate cell proliferation in an autocrine manner via activation of the receptor for activated glycation end products (RAGE)., [UniProtKB, PubMed, PubMed, PubMed]; RBMS1 Coordinates with the m[6]A Reader YTHDF1 to Promote NSCLC Metastasis through Stimulating S100P Translation., [RefSeq, PubMed]; S100P as a potential biomarker for immunosuppressive microenvironment in pancreatic cancer: a bioinformatics analysis and in vitro study. Publication Status: Online-Only, [RefSeq, PubMed]; S100P facilitates LUAD progression via PKA/c-Jun-mediated tumor-associated macrophage recruitment and polarization., [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; however, this gene is located at 4p16. This protein, in addition to binding Ca2+, also binds Zn2+ and Mg2+. This protein may play a role in the etiology of prostate 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": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5J7W2", "ec_number_list": "", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0042803 protein homodimerization activity;GO:0046914 transition metal ion binding;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0034774 secretory granule lumen", "go_biological_process": "GO:0043542 endothelial cell migration", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P25815-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BT81-1", "uniprot_id": "SOX7_HUMAN", "mass": 42197.0, "length": 388, "protein_name": "Transcription factor SOX-7", "gene_name": "SOX7", "organism": "Human", "refseq_name": "transcription factor SOX-7", "refseq_ac": "NP_113627", "gene_names_uniprotkb": "SOX7", "gene_names_refseq": "SOX7", "protein_names_uniprotkb": "Transcription factor SOX-7", "protein_names_refseq": "SRY (sex determining region Y)-box 7; SRY-box 7; transcription factor SOX-7", "tax_id": 9606, "disease": "intestinal cancer (Disease Ontology:DOID:10155); congenital diaphragmatic hernia (Disease Ontology:DOID:3827)", "pathway": " (hsa:83595); (R-HSA-3769402)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "10549281;10898789;10921920;10944533;11691915;12408824;12408825;12712206;14600025;14685266;15132997;15327769;15525529;16510874;17218525;17412698;17698607;17875931;18378692;18456656;18573912;18598779;18682240;18819930;18940723;19047045;19108950;19364920;19590513;19928349;19940019;22304967;24291232;27862975;32157095;35051231;35580925;35718188;36715213;37217939;38583021;39126242;39227479", "class_list": "", "function": "Binds to and activates the CDH5 promoter, hence plays a role in the transcriptional regulation of genes expressed in the hemogenic endothelium and blocks further differentiation into blood precursors (By similarity). May be required for the survival of both hematopoietic and endothelial precursors during specification (By similarity). Competes with GATA4 for binding and activation of the FGF3 promoter (By similarity). Represses Wnt/beta-catenin-stimulated transcription, probably by targeting CTNNB1 to proteasomal degradation. Binds the DNA sequence 5'-AACAAT-3'., [UniProtKB, PubMed]; Gene expression, chromosome mapping, transactivation, interference with Wnt signaling, [RefSeq, PubMed]; SOX7 inhibits the malignant progression of bladder cancer via the DNMT3B/CYGB axis. Publication Status: Online-Only, [RefSeq, PubMed]; SOX7, down-regulated in colorectal cancer, induces apoptosis and inhibits proliferation of colorectal cancer cells., [RefSeq, PubMed]; Sox7 is a tumor suppressor that functions as an independent checkpoint for beta-catenin transcriptional activity. Inactivation of Sox7 could promote the development of a majority of colorectal tumors and approximately half of prostate tumors., [RefSeq, PubMed]; Stable endoderm progenitors can be established from human ES cells by constitutive expression of SOX7 producing extraembryonic endoderm progenitors, [RefSeq, PubMed]; Stable expression induces a stable expandable extra embryonic endoderm phenotype in hESCs, [RefSeq, PubMed]; System analysis based on weighted gene co-expression analysis identifies SOX7 as a novel regulator of hepatic stellate cell activation and liver fibrosis., [RefSeq, PubMed]; The blood vasculature instructs lymphatic patterning in a SOX7-dependent manner., [RefSeq, PubMed]; The mechanism by which crocetin regulates the lncRNA NEAT1/miR-125b-5p/SOX7 molecular axis to inhibit high glucose-induced diabetic retinopathy., [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. The protein may play a role in tumorigenesis. A similar protein in mice is involved in the regulation of the wingless-type MMTV integration site family (Wnt) pathway. [provided by RefSeq, Jul 2008]., [RefSeq]; [Downregulation of SETDB1 suppresses epithelial mesenchymal transition and invasion and metastasis in oral cancer via SOX7 methylation]., [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": 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": "B4DKV0;Q53YD0", "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:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0001706 endoderm formation", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9BT81-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7L1I2-1", "uniprot_id": "SV2B_HUMAN", "mass": 77444.0, "length": 683, "protein_name": "Synaptic vesicle glycoprotein 2B", "gene_name": "SV2B", "organism": "Human", "refseq_name": "synaptic vesicle glycoprotein 2B isoform 2", "refseq_ac": "NP_001161052", "gene_names_uniprotkb": "SV2B; KIAA0735", "gene_names_refseq": "HsT19680; SLC22B2; SV2B", "protein_names_uniprotkb": "Synaptic vesicle glycoprotein 2B", "protein_names_refseq": "solute carrier family 22 member B2; synaptic vesicle glycoprotein 2B isoform 2; synaptic vesicle protein 2B homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:9899); (R-HSA-5250955); (R-HSA-5250968); (R-HSA-5250981); (R-HSA-5250992)", "pathway_count": 5, "publication_count": 33, "publication_id_list": "12459720;15217342;16519520;16543415;18815274;19118561;19476346;19650874;20233039;20628086;21483489;21632541;22720883;23617838;29557506;29649119;31217245;31844290;32350084;32357974;32488085;32667033;33588752;34357683;35051231;8175689;8226912;8243676;8294407;8402889;9712688;9783750;9886085", "class_list": "", "function": "(Microbial infection) Receptor for the C.botulinum neurotoxin type A2 (BoNT/A, botA); glycosylation is not essential but enhances the interaction (PubMed:29649119). Probably also serves as a receptor for the closely related C.botulinum neurotoxin type A1., [UniProtKB, PubMed]; Bioinformatics analysis of potential core genes for glioblastoma., [RefSeq, PubMed]; Differentiation of two human neuroblastoma cell lines alters SV2 expression patterns. Publication Status: Online-Only, [RefSeq, PubMed]; In classical mesial temporal sclerosis 1A, the expression of SV2 isoforms is altered with a marked decrease of SV2B paralleling synaptic loss., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Probably plays a role in the control of regulated secretion in neural and endocrine cells., [UniProtKB]; This gene encodes a member of the synaptic vesicle proteins 2 (SV2) family and major facilitator superfamily of proteins. This protein and other members of the family are localized to synaptic vesicles and may function in the regulation of vesicle trafficking and exocytosis. Studies in mice suggest that the encoded protein may act as a protein receptor for botulinum neurotoxin E in neurons, and that this protein may be important for the integrity of the glomerular filtration barrier. This gene shows reduced expression in areas of synaptic loss in the hippocampus of human temporal lobe epilepsy patients. [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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "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": "B4DH30;C6G489;O94840;Q6IAR8", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0001669 acrosomal vesicle;GO:0030672 synaptic vesicle membrane;GO:0008021 synaptic vesicle", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0099509 regulation of presynaptic cytosolic calcium ion concentration;GO:0006836 neurotransmitter transport;GO:2000300 regulation of synaptic vesicle exocytosis", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q7L1I2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00631-1", "uniprot_id": "SARCO_HUMAN", "mass": 3762.0, "length": 31, "protein_name": "Sarcolipin", "gene_name": "SLN", "organism": "Human", "refseq_name": "sarcolipin", "refseq_ac": "NP_003054", "gene_names_uniprotkb": "SLN", "gene_names_refseq": "SLN", "protein_names_uniprotkb": "Sarcolipin", "protein_names_refseq": "sarcolipin", "tax_id": 9606, "disease": "", "pathway": " (hsa:6588); (R-HSA-5578775); (R-HSA-936837)", "pathway_count": 3, "publication_count": 79, "publication_id_list": "10220561;10401004;10484781;10615129;10767338;10913253;11062458;11781085;11904675;12119109;12832055;12953268;15174025;15260953;15598648;15754088;15831496;15919184;15925480;16182249;1656976;16700898;16754674;1693919;17224452;17357072;17486119;18723824;18995841;19278978;19345671;19751721;19878721;20388710;21108950;2160952;22186024;22210847;2226863;22427649;22707725;22972900;23196729;23362265;23549614;23610579;2430951;24392018;2477373;2559024;25994790;27067231;27378083;2838329;28645727;28890335;2953725;29594859;31674694;32668157;33244801;35494241;36523160;6328127;6832622;7626145;7702581;7929371;8045293;8298639;8490646;8490659;8798450;8918259;9147644;9307043;9346285;9367679;9575189", "class_list": "", "function": "Effects of amino acid modifications on the permeability of the pentameric sarcolipin channel., [RefSeq, PubMed]; Reversibly inhibits the activity of ATP2A1/SERCA1 and ATP2A2/SERCA2 in sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+) (PubMed:11781085, PubMed:9575189). Also inhibits the activity of ATP2A3/SERCA3 (By similarity). Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in muscle. Required for muscle-based, non-shivering thermogenesis (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Sarcolipin protein is more abundantly expressed in leg than arm skeletal muscles in humans. Sarcolipin protein expression is not altered by short-term low-intensity exercise but is reduced by repeated sprint exercise. Expression in human skeletal muscle is not associated with adiposity nor resting energy expenditure in overweight men., [RefSeq, PubMed]; Sarcoplasmic reticulum Ca(2+)-ATPases are transmembrane proteins that catalyze the ATP-dependent transport of Ca(2+) from the cytosol into the lumen of the sarcoplasmic reticulum in muscle cells. This gene encodes a small proteolipid that regulates several sarcoplasmic reticulum Ca(2+)-ATPases. The transmembrane protein interacts with Ca(2+)-ATPases and reduces the accumulation of Ca(2+) in the sarcoplasmic reticulum without affecting the rate of ATP hydrolysis. [provided by RefSeq, Jul 2008]., [RefSeq]; Structure-Function Relationship of the SERCA Pump and Its Regulation by Phospholamban and Sarcolipin. 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": 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": "Q6ICV3", "ec_number_list": "", "go_molecular_function": "GO:0004857 enzyme inhibitor activity;GO:0051117 ATPase binding", "go_cellular_component": "GO:0016020 membrane;GO:0016529 sarcoplasmic reticulum;GO:0033017 sarcoplasmic reticulum membrane", "go_biological_process": "GO:1901894 regulation of ATPase-coupled calcium transmembrane transporter activity;GO:0090281 negative regulation of calcium ion import;GO:1901895 negative regulation of ATPase-coupled calcium transmembrane transporter activity;GO:0006816 calcium ion transport;GO:0051924 regulation of calcium ion transport", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "O00631-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86VD7-1", "uniprot_id": "S2542_HUMAN", "mass": 35409.0, "length": 318, "protein_name": "Mitochondrial coenzyme A transporter SLC25A42", "gene_name": "SLC25A42", "organism": "Human", "refseq_name": "mitochondrial coenzyme A transporter SLC25A42", "refseq_ac": "NP_001308473", "gene_names_uniprotkb": "SLC25A42", "gene_names_refseq": "MECREN; SLC25A42", "protein_names_uniprotkb": "Mitochondrial coenzyme A transporter SLC25A42; Solute carrier family 25 member 42", "protein_names_refseq": "mitochondrial coenzyme A transporter SLC25A42", "tax_id": 9606, "disease": "metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (MONDO:MONDO:0032736)", "pathway": " (hsa:284439); (R-HSA-199220)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10329687;10334869;10567687;11158296;12757929;12815048;16949250;17242360;19429682;21183659;23266187;23481700;24714562;24715725;25576301;25645385;26375851;26541337;26992070;27322068;27920218;28904123;29327420;29557506;29923093;30237576;30429286;30484775;30524438;31004344;31844290;32234503;32897882;33298915;33392160;33717175;35051231;35154160;36010968;36983025;38244193;40925986;8934567;9516450", "class_list": "", "function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Mitochondrial carrier mediating the transport of coenzyme A (CoA) in mitochondria in exchange for intramitochondrial (deoxy)adenine nucleotides and adenosine 3',5'-diphosphate., [UniProtKB, PubMed, PubMed]; Novel role of host protein SLC25A42 in the HIV-1 reactivation of latent HIV-1 provirus., [RefSeq, PubMed]; Our report confirms the link between SLC25A42 and mitochondrial disease in humans, and suggests that pathogenic variants in SLC25A42 should be interpreted with the understanding that the associated phenotype may be highly variable., [RefSeq, PubMed]; The main physiological role of SLC25A42 is to import CoA into mitochondria in exchange for intramitochondrial (deoxy)adenine nucleotides and adenosine 3',5'-diphosphate, [RefSeq, PubMed]; This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial transporter for coenzyme A (CoA) and adenosine 3',5'-diphosphate. [provided by RefSeq, Feb 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "D2T2J5;O14553;O43378", "ec_number_list": "", "go_molecular_function": "GO:0043262 ADP phosphatase activity;GO:0005347 ATP transmembrane transporter activity;GO:0015217 ADP transmembrane transporter activity;GO:0015228 coenzyme A transmembrane transporter activity;GO:0080122 AMP transmembrane transporter activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0015939 pantothenate metabolic process;GO:0015866 ADP transport;GO:0035349 coenzyme A transmembrane transport;GO:0080121 AMP transport;GO:0015867 ATP transport", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q86VD7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UMS6-1", "uniprot_id": "SYNP2_HUMAN", "mass": 117514.0, "length": 1093, "protein_name": "Synaptopodin-2", "gene_name": "SYNPO2", "organism": "Human", "refseq_name": "synaptopodin-2 isoform b", "refseq_ac": "NP_001122405", "gene_names_uniprotkb": "SYNPO2", "gene_names_refseq": "SYNPO2", "protein_names_uniprotkb": "Synaptopodin-2; Genethonin-2; Myopodin", "protein_names_refseq": "genethonin-2; myopodin; synaptopodin-2 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:171024)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;11297942;11673475;16885336;17828378;18371299;20554076;21643011;22915763;23225103;23434281;23783831;24005909;24275569;25883213;27846572;28991374;29393594;29557506;29786170;29789417;30429286;32157095;32278815;32350084;32387766;34019948;34185709;34333382;34509645;35051231;35580925;36010968;36284347;37938771;38038167;38201288", "class_list": "", "function": "Can induce long, well-organized actin bundles frequently orientated in parallel along the long axis of the cell showing characteristics of contractile ventral stress fibers., [UniProtKB, PubMed]; Has an actin-binding and actin-bundling activity. Can induce the formation of F-actin networks in an isoform-specific manner (PubMed:23225103, PubMed:24005909). At the sarcomeric Z lines is proposed to act as adapter protein that links nascent myofibers to the sarcolemma via ZYX and may play a role in early assembly and stabilization of the Z lines. Involved in autophagosome formation. May play a role in chaperone-assisted selective autophagy (CASA) involved in Z lines maintenance in striated muscle under mechanical tension; may link the client-processing CASA chaperone machinery to a membrane-tethering and fusion complex providing autophagosome membranes (By similarity). Involved in regulation of cell migration (PubMed:22915763, PubMed:25883213). May be a tumor suppressor (PubMed:16885336)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Involved in regulation of cell migration in part dependent on the Rho-ROCK cascade; can promote formation of nascent focal adhesions, actin bundles at the leading cell edge and lamellipodia (PubMed:22915763, PubMed:25883213). Can induce formation of thick, irregular actin bundles in the cell body; the induced actin network is associated with enhanced cell migration in vitro., [UniProtKB, PubMed, PubMed, PubMed]; Involved in regulation of cell migration. Can induce an amorphous actin meshwork throughout the cell body containing a mixture of long and short, randomly organized thick and thin actin bundles., [UniProtKB, PubMed, PubMed]; Involved in regulation of cell migration. Can induce formation of thick, irregular actin bundles in the cell body., [UniProtKB, PubMed, PubMed]; Involved in regulation of cell migration. Can induce long, well-organized actin bundles frequently orientated in parallel along the long axis of the cell showing characteristics of contractile ventral stress fibers., [UniProtKB, PubMed, PubMed]; SYNPO2 promotes the development of BLCA by upregulating the infiltration of resting mast cells and increasing the resistance to immunotherapy., [RefSeq, PubMed]; SYNPO2 suppresses hypoxia-induced proliferation and migration of colorectal cancer cells by regulating YAP-KLF5 axis., [RefSeq, PubMed]; Synaptopodin-2 Isoforms Have Specific Binding Partners and Display Distinct, Muscle Cell Type-Specific Expression Patterns. Publication Status: Online-Only, [RefSeq, PubMed]; Synaptopodin-2 promotes hepatocellular carcinoma metastasis via calcineurin-induced nuclear-cytoplasmic translocation., [RefSeq, PubMed]; These findings uncover a suppressive role of SYNPO2 in triple-negative breast cancer (TNBC) metastasis via inhibition of YAP/TAZ, and suggest that SYNPO2 might provide a potential prognosis marker and novel therapeutic strategy., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 0, "predicted_o_glycosites": 5, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "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": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RWP6;B2Y8J9;C6H0M7;Q9UK89;S5XAM4", "ec_number_list": "", "go_molecular_function": "GO:0051371 muscle alpha-actinin binding;GO:0003779 actin binding;GO:0051393 alpha-actinin binding;GO:0071889 14-3-3 protein binding;GO:0031005 filamin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton;GO:0001725 stress fiber;GO:0030018 Z disc", "go_biological_process": "GO:0032233 positive regulation of actin filament bundle assembly;GO:0030335 positive regulation of cell migration;GO:2000298 regulation of Rho-dependent protein serine/threonine kinase activity", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9UMS6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96GT9-1", "uniprot_id": "XAGE2_HUMAN", "mass": 12354.0, "length": 111, "protein_name": "X antigen family member 2", "gene_name": "XAGE2", "organism": "Human", "refseq_name": "X antigen family member 2", "refseq_ac": "NP_570133", "gene_names_uniprotkb": "XAGE2; GAGED3; XAGE2B", "gene_names_refseq": "CT12.2; GAGED3; XAGE-2; XAGE2B; XAGE2", "protein_names_uniprotkb": "X antigen family member 2; CT12.2; Cancer/testis antigen 12.2; G antigen family D member 3; XAGE-2", "protein_names_refseq": "G antigen family D member 3; X antigen family member 2; X antigen family, member 2B; cancer/testis antigen 12.2; cancer/testis antigen family 12, member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9502)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "10197611;11992404;35051231", "class_list": "", "function": "This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in normal testis, and in Ewing's sarcoma, rhabdomyosarcoma, a breast cancer and a germ cell tumor. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5HYR4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q96GT9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92824-1", "uniprot_id": "PCSK5_HUMAN", "mass": 206942.0, "length": 1860, "protein_name": "Proprotein convertase subtilisin/kexin type 5", "gene_name": "PCSK5", "organism": "Human", "refseq_name": "proprotein convertase subtilisin/kexin type 5 isoform PC6B preproprotein", "refseq_ac": "NP_001177411", "gene_names_uniprotkb": "PCSK5; PC5; PC6", "gene_names_refseq": "PC5; PC6A; PC6; PCSK5; SPC6", "protein_names_uniprotkb": "Proprotein convertase subtilisin/kexin type 5; 3.4.21.-; PC5; PC6; Proprotein convertase 5; Proprotein convertase 6; Subtilisin/kexin-like protease PC5; hPC6", "protein_names_refseq": "prohormone convertase 5; proprotein convertase 6; proprotein convertase subtilisin/kexin type 5 isoform PC6B preproprotein; protease PC6; subtilase; subtilisin/kexin-like protease PC5", "tax_id": 9606, "disease": "visceral heterotaxy (Disease Ontology:DOID:0050545); sciatic neuropathy (Disease Ontology:DOID:11446); VACTERL association (Disease Ontology:DOID:14679); colon adenocarcinoma (Disease Ontology:DOID:234); primary ciliary dyskinesia (Disease Ontology:DOID:9562)", "pathway": " (hsa:5125); (R-HSA-167060); (R-HSA-8963889)", "pathway_count": 3, "publication_count": 52, "publication_id_list": "10.1101/2023.09.13.557529;10900462;11237011;12787574;1301939;15284087;15800215;16109723;17088546;17883852;17994020;17997385;19304573;19361614;19764806;20356926;20555025;20581395;21666694;21719679;21844202;22262056;22569073;22740495;23020258;23150577;24397894;24909692;24960069;25387803;26933753;26934567;26934667;26992070;28834231;29126984;29557506;29789417;32157095;33091337;33392160;35045102;35051231;37074911;38972101;7592670;8020465;8485124;8615794;8755538;9136889;9379936", "class_list": "", "function": "Pro-fibrotic effect of the susceptible gene PCSK5 in vascular fibrosis of Takayasu arteritis via TGF-beta and SMAD3 signaling pathway activation., [RefSeq, PubMed]; Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive and regulated secretory pathways. Plays an essential role in pregnancy establishment by proteolytic activation of a number of important factors such as BMP2, CALD1 and alpha-integrins., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014]., [RefSeq]; This study demonstrates that Pcsk5 is expressed in bone-forming cells, and that OPN is a novel substrate for PC5/6, [RefSeq, PubMed]; Urine peptidome in combination with transcriptomics analysis highlights MMP7, MMP14 and PCSK5 for further investigation in chronic kidney disease. Erratum:[PLoS One. 2024 Jun 13;19(6):e0305767. doi: 10.1371/journal.pone.0305767. PMID: 38870254] Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 9, "predicted_n_glycosites": 9, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 76, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "F5H2G7;Q13527;Q96EP4", "ec_number_list": "3.1.1.32;3.1.1.34;3.4.21.75;3.4.21.-", "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0004866 endopeptidase inhibitor activity;GO:0042277 peptide binding;GO:0008233 peptidase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0005796 Golgi lumen", "go_biological_process": "GO:0019058 viral life cycle;GO:0007267 cell-cell signaling;GO:0007507 heart development;GO:0016485 protein processing;GO:0016486 peptide hormone processing", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q92824-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N6R1-1", "uniprot_id": "SERP2_HUMAN", "mass": 7431.0, "length": 65, "protein_name": "Stress-associated endoplasmic reticulum protein 2", "gene_name": "SERP2", "organism": "Human", "refseq_name": "stress-associated endoplasmic reticulum protein 2", "refseq_ac": "NP_001010897", "gene_names_uniprotkb": "SERP2; C13orf21", "gene_names_refseq": "C13orf21; SERP2; bA269C23.1", "protein_names_uniprotkb": "Stress-associated endoplasmic reticulum protein 2; Ribosome-associated membrane protein RAMP4-2", "protein_names_refseq": "ribosome-associated membrane protein RAMP4-2; stress-associated endoplasmic reticulum protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:387923)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;28063628;29242379;29393594;29557506;29632046;30315122;30429286;31217245;31844290;32357974;32488085", "class_list": "", "function": "Interacts with target proteins during their translocation into the lumen of the endoplasmic reticulum. Protects unfolded target proteins against degradation during ER stress. May facilitate glycosylation of target proteins after termination of ER stress. May modulate the use of N-glycosylation sites on target proteins., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Interacts with target proteins during translocation into the lumen of the endoplasmic reticulum. Protects unfolded target proteins against degradation and facilitate correct glycosylation., [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": 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:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0030968 endoplasmic reticulum unfolded protein response;GO:0006986 response to unfolded protein", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8N6R1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NVD7-1", "uniprot_id": "PARVA_HUMAN", "mass": 42244.0, "length": 372, "protein_name": "Alpha-parvin", "gene_name": "PARVA", "organism": "Human", "refseq_name": "alpha-parvin", "refseq_ac": "NP_060692", "gene_names_uniprotkb": "PARVA; MXRA2", "gene_names_refseq": "CH-ILKBP; MXRA2; PARVA", "protein_names_uniprotkb": "Alpha-parvin; Actopaxin; CH-ILKBP; Calponin-like integrin-linked kinase-binding protein; Matrix-remodeling-associated protein 2", "protein_names_refseq": "actopaxin; alpha-parvin; calponin-like integrin-linked kinase-binding protein; matrix-remodeling-associated protein 2", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:55742); (R-HSA-446343); (R-HSA-446353); (R-HSA-446388)", "pathway_count": 4, "publication_count": 55, "publication_id_list": "11134073;11171322;11237011;11331308;11722847;12432066;12499396;12679033;15005707;15159419;15242332;15284246;15817463;16531412;16860736;18436335;18508764;18669648;18691976;18940607;20005845;20393563;21406692;22441983;22955285;23186163;23481700;24275569;25576301;25645385;27600516;27862975;28228285;28904123;29557506;29786170;30315122;30367047;30484775;31844290;32157095;32488085;32938616;33587032;33592498;33717175;33968037;34087483;35051231;35259013;35580925;36215666;36284347;37938771;8538749", "class_list": "", "function": "Complex structures of Rsu1 and PINCH1 reveal a regulatory mechanism of the ILK/PINCH/Parvin complex for F-actin dynamics. Publication Status: Online-Only, [RefSeq, PubMed]; Mammalian parvins are likely to have arisen late in evolution from gene duplication as they share a remarkably similar exon/intron organization., [RefSeq, PubMed]; Plays a role in sarcomere organization and in smooth muscle cell contraction. Required for normal development of the embryonic cardiovascular system, and for normal septation of the heart outflow tract. Plays a role in sprouting angiogenesis and is required for normal adhesion of vascular smooth muscle cells to endothelial cells during blood vessel development (By similarity). Plays a role in the reorganization of the actin cytoskeleton, formation of lamellipodia and ciliogenesis. Plays a role in the establishment of cell polarity, cell adhesion, cell spreading, and directed cell migration. Within the IPP (ILK-PINCH-PARVIN) complex, binds to F-actin, promoting F-actin bundling, a process required to generate force for actin cytoskeleton reorganization and subsequent dynamic cell adhesion events such as cell spreading and migration (PubMed:30367047)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [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": 7, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96C85;Q9HA48", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0045296 cadherin binding;GO:0004860 protein kinase inhibitor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0030036 actin cytoskeleton organization;GO:0051017 actin filament bundle assembly;GO:0050821 protein stabilization;GO:0034446 substrate adhesion-dependent cell spreading;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9NVD7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BWU0-2", "uniprot_id": "NADAP_HUMAN", "mass": 82890.0, "length": 742, "protein_name": "Kanadaptin", "gene_name": "SLC4A1AP", "organism": "Human", "refseq_name": "kanadaptin", "refseq_ac": "NP_060628", "gene_names_uniprotkb": "SLC4A1AP; HLC3", "gene_names_refseq": "HLC3; SLC4A1AP", "protein_names_uniprotkb": "Kanadaptin; HLC-3; Human lung cancer oncogene 3 protein; Kidney anion exchanger adapter protein; Solute carrier family 4 anion exchanger member 1 adapter protein", "protein_names_refseq": "HLC-3; human lung cancer oncogene 3 protein; kanadaptin; kidney anion exchanger adapter protein; kidney anion exchanger adaptor protein; lung cancer oncogene 3; solute carrier family 4 (anion exchanger), member 1, adapter protein; solute carrier family 4 (anion exchanger), member 1, adaptor protein; solute carrier family 4 anion exchanger member 1 adapter protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:22950)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "15764369;17081983;17322306;17525332;18077418;18669648;19651622;19690332;20068231;21406692;21993680;23186163;23481700;24275569;25197798;25892735;26728094;27600516;27920218;28218747;28228285;28514659;28832583;28834231;28855257;29242379;29393594;29508533;29632711;29769354;29786170;29930882;30315122;30524438;30779550;30833945;31154438;31222486;31530632;31848261;37938771", "class_list": "", "function": "Human kanadaptin did not interact with kidney anion exchanger 1 (kAE1) and had no effect on trafficking of kAE1 to the plasma membrane, [RefSeq, PubMed]; Structural insights into the recognition of phosphopeptide by the FHA domain of kanadaptin 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": 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": "A0A087X0M4;A6NJ39;Q4KMT1;Q4KMX0;Q7Z5Q9;Q9NVN2", "ec_number_list": "", "go_molecular_function": "GO:0003729 mRNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9BWU0-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5C9Z4-1", "uniprot_id": "NOM1_HUMAN", "mass": 96257.0, "length": 860, "protein_name": "Nucleolar MIF4G domain-containing protein 1", "gene_name": "NOM1", "organism": "Human", "refseq_name": "nucleolar MIF4G domain-containing protein 1 isoform 1", "refseq_ac": "NP_612409", "gene_names_uniprotkb": "NOM1; C7orf3", "gene_names_refseq": "C7orf3; NOM1; PPP1R113; SGD1", "protein_names_uniprotkb": "Nucleolar MIF4G domain-containing protein 1; SGD1 homolog", "protein_names_refseq": "SGD1 homolog; nucleolar MIF4G domain-containing protein 1 isoform 1; nucleolar MIF4G domain-containing protein 1; protein phosphatase 1, regulatory subunit 113", "tax_id": 9606, "disease": "", "pathway": " (hsa:64434)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "10329000;15715967;17965019;18452278;18669648;18984734;18991276;19651622;20068231;21406692;21576267;23186163;23481700;25367160;25418920;26154972;26992070;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;29786170;29789417;30484775;30639046;31217245;31844290;32157095;32350084;32387766;32897882;32938616;32983136;33392160;33592498;33691108;33912179;33968037;34087483;34932366;35051231;35251023;35561310;35580925;36010968;36241641;37938771;39531497;40596516;40914422", "class_list": "", "function": "Data demonstrate that NOM1 can target PP1 to the nucleolus and show NOM1 nucleolar localization sequence are required for this targeting activity and conclude that NOM1 is a PP1 nucleolar targeting subunit, the first identified in eukaryotic cells., [RefSeq, PubMed]; Demonstrate direct physical interactions between yeast Sgd1p and Fal1p, and between their human orthologs (NOM1 and eIF4AIII) in vitro and in vivo, identifying human NOM1 as a missing eIF4G-like interacting partner of eIF4AIII, [RefSeq, PubMed]; Plays a role in targeting PPP1CA to the nucleolus., [UniProtKB, PubMed]; Proteins that contain MIF4G (middle of eIF4G (MIM 600495)) and/or MA3 domains, such as NOM1, function in protein translation. These domains include binding sites for members of the EIF4A family of ATP-dependent DEAD box RNA helicases (see EIF4A1; MIM 602641) (Simmons et al., 2005 [PubMed 15715967]).[supplied by OMIM, Mar 2008]., [RefSeq]; Results are consistent with a physiologically-relevant interplay between the nuclear IGF1 signaling pathway and nucleolar protein NOM1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "reported_glycation": 0, "reported_snv": 26, "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": "Q96I08", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005730 nucleolus", "go_biological_process": "GO:0042274 ribosomal small subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q5C9Z4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00526-1", "uniprot_id": "UPK2_HUMAN", "mass": 19438.0, "length": 184, "protein_name": "Uroplakin-2", "gene_name": "UPK2", "organism": "Human", "refseq_name": "uroplakin-2 precursor", "refseq_ac": "NP_006751", "gene_names_uniprotkb": "UPK2", "gene_names_refseq": "UP2; UPII; UPK2", "protein_names_uniprotkb": "Uroplakin-2; UP2; UPII; Uroplakin II", "protein_names_refseq": "uroplakin II; uroplakin-2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:7379)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "12792753;24715725;29557506;33887302;35612672;36227121;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 regulating the assembly of the AUM (By similarity)., [UniProtKB]; Distinct Uroplakin II Staining Pattern in Apocrine Breast Carcinoma., [RefSeq, PubMed]; Expression of uroplakin II and GATA-3 in bladder cancer mimickers: caveats in the use of a limited panel to determine cell of origin in bladder lesions., [RefSeq, PubMed]; This gene encodes one of the proteins of the highly conserved urothelium-specific integral membrane proteins of the asymmetric unit membrane which forms urothelium apical plaques in mammals. The asymmetric unit membrane is believed to strengthen the urothelium by preventing cell rupture during bladder distention. The encoded protein is expressed in the peripheral blood of bladder cancer patients with transitional cell carcinomas.[provided by RefSeq, Sep 2009]., [RefSeq]; Uroplakin II as a single marker for luminal versus basal molecular subtypes in muscle invasive urothelial carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B0YJ92;O00457;Q53YV0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0030855 epithelial cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "O00526-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2YD98-1", "uniprot_id": "UVSSA_HUMAN", "mass": 80591.0, "length": 709, "protein_name": "UV-stimulated scaffold protein A", "gene_name": "UVSSA", "organism": "Human", "refseq_name": "UV-stimulated scaffold protein A", "refseq_ac": "NP_001304863", "gene_names_uniprotkb": "UVSSA; KIAA1530", "gene_names_refseq": "KIAA1530; UVSS3; UVSSA", "protein_names_uniprotkb": "UV-stimulated scaffold protein A", "protein_names_refseq": "UV-stimulated scaffold protein A", "tax_id": 9606, "disease": "UV-sensitive syndrome (Disease Ontology:DOID:0060240)", "pathway": " (hsa:57654); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210)", "pathway_count": 5, "publication_count": 85, "publication_id_list": "10944529;11237011;11904382;12208738;12660172;12732143;14517266;15590680;15777939;16246722;16751180;17000769;17290000;17466625;17466626;17948053;17981804;18079701;18614043;18669648;19279666;19690332;19940136;20227374;20541997;21070792;21282463;22081108;22118460;22466610;22466611;22466612;22902626;23481700;23631307;23760561;23906714;23973375;24127601;24402227;24714562;25154395;25418920;25435140;25645385;26728094;26929215;28228285;28832583;28834231;28855257;28904123;29393594;30429286;31844290;32142649;32157095;32355176;32357974;32387766;32502341;32938616;32983136;33717175;33968037;33981976;34087483;34526721;34932366;35051231;35580925;36010968;36284347;37442507;38192884;38316879;38600235;38600236;7700386;8078911;8876179;9326587;9699634;9716411;9875289", "class_list": "", "function": "Factor involved in transcription-coupled nucleotide excision repair (TC-NER), a mechanism that rapidly removes RNA polymerase II-blocking lesions from the transcribed strand of active genes (PubMed:22466610, PubMed:22466611, PubMed:22466612, PubMed:32142649, PubMed:32355176, PubMed:34526721, PubMed:38316879, PubMed:38600235, PubMed:38600236). Acts as a key adapter that promotes recruitment of factors involved in TC-NER (PubMed:22466611, PubMed:22466612, PubMed:32142649, PubMed:32355176, PubMed:34526721, PubMed:38600235, PubMed:38600236). Facilitates the ubiquitination of the elongating form of RNA polymerase II (RNA pol IIo) at DNA damage sites, thereby promoting RNA pol IIo backtracking and access by the TC-NER machinery to lesion sites (PubMed:22466611, PubMed:32142649). Also promotes stabilization of ERCC6/CSB by recruiting deubiquitinating enzyme USP7 to TC-NER complexes, preventing UV-induced degradation of ERCC6 by the proteasome (PubMed:22466611, PubMed:22466612). Mediates the recruitment of the TFIIH complex and other factors that are required for nucleotide excision repair to RNA polymerase II (PubMed:32142649, PubMed:32355176, PubMed:34526721, PubMed:38600235, PubMed:38600236). Also required to inactivate stalled RNA polymerase II by blocking the access of TCEA1/TFIIS, thereby preventing reactivation of RNA polymerase II (PubMed:38316879). Not involved in processing oxidative damage (PubMed:22466612)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Human UVSSA protein is required for the ubiquitination of RNA polymerase and DNA repair after light-induced DNA damage [review]. Review article, [RefSeq, PubMed]; KIAA1530 is an important player in TCR but also lead to a better understanding of the molecular mechanism underlying UV(s)S syndrome., [RefSeq, PubMed]; Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair., [RefSeq, PubMed]; Mutations in UVSSA cause UV-sensitive syndrome and recruits USP7 to regulate transcription-coupled repair., [RefSeq, PubMed]; Mutations in the UVSSA gene is associated with UV-sensitive syndrome., [RefSeq, PubMed]; Structural characterization of transcription-coupled repair protein UVSSA and its interaction with TFIIH protein., [RefSeq, PubMed]; The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]; UVSSA together with USP7 is implicated in regulating transcription-coupled DNA repair.[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": 3, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 13, "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": "A8K9E6;B2RU11;Q8WTX4;Q9P1Z8", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000993 RNA polymerase II complex binding;GO:0140463 chromatin-protein adaptor activity;GO:0140870 RNA polymerase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005694 chromosome;GO:0090734 site of DNA damage", "go_biological_process": "GO:0009411 response to UV;GO:0016567 protein ubiquitination;GO:0006283 transcription-coupled nucleotide-excision repair;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q2YD98-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H0C8-1", "uniprot_id": "ILKAP_HUMAN", "mass": 42907.0, "length": 392, "protein_name": "Integrin-linked kinase-associated serine/threonine phosphatase 2C", "gene_name": "ILKAP", "organism": "Human", "refseq_name": "integrin-linked kinase-associated serine/threonine phosphatase 2C", "refseq_ac": "NP_110395", "gene_names_uniprotkb": "ILKAP", "gene_names_refseq": "ILKAP2; ILKAP3; ILKAP; PP2C-DELTA; PP2CD; PPM1O", "protein_names_uniprotkb": "Integrin-linked kinase-associated serine/threonine phosphatase 2C; 3.1.3.16; ILKAP", "protein_names_refseq": "integrin-linked kinase associated phosphatase; integrin-linked kinase-associated serine/threonine phosphatase 2C; protein phosphatase 2c, delta isozyme; protein phosphatase, Mg2+/Mn2+ dependent 1O", "tax_id": 9606, "disease": "", "pathway": " (hsa:80895)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11230166;11237011;11331582;14990992;17081983;19608861;19651622;20068231;21406692;21782789;22223895;23186163;23301498;24715725;25576301;25872452;26460618;27846572;28446606;28510447;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29742494;29786170;30315122;30379171;31154438;31844290;31848261;32119511;32157095;32161166;32350084;33214551;33298915;33592498;33912179;33968037;34019948;34229054;35051231;35580925;38379270;40914422", "class_list": "", "function": "ILKAP Promotes the Metastasis of Hepatocellular Carcinoma Cells by Inhibiting beta-Catenin Degradation and Enhancing the WNT Signaling Pathway., [RefSeq, PubMed]; ILKAP physically interacted with HIF-1A and induced its dephosphorylation. Both the HIF-1A-p53 interaction and apoptosis relied on ILKAP., [RefSeq, PubMed]; Our data suggest an essential role of PINCH1, ILK and ILKAP for the radioresistance of p53-wildtype glioblastoma multiforme cells, [RefSeq, PubMed]; Protein phosphatase that may play a role in regulation of cell cycle progression via dephosphorylation of its substrates whose appropriate phosphorylation states might be crucial for cell proliferation. Selectively associates with integrin linked kinase (ILK), to modulate cell adhesion and growth factor signaling. Inhibits the ILK-GSK3B signaling axis and may play an important role in inhibiting oncogenic transformation., [UniProtKB, PubMed]; The expression of ILKAP was considerably lower in eutopic and ectopic endometrial samples from women with endometriosis than in control endometrium. Expression varied depending on the phase of the menstrual cycle., [RefSeq, PubMed]; The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008]., [RefSeq]; These results suggested that palladin played a specific role in modulating the subcellular localization of the cytoplasmic ILKAP and promoting the ILKAP-induced 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": 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": "B3KM39", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.-;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:0046872 metal ion binding;GO:0004722 protein serine/threonine phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9H0C8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14533-1", "uniprot_id": "KRT81_HUMAN", "mass": 54928.0, "length": 505, "protein_name": "Keratin, type II cuticular Hb1", "gene_name": "KRT81", "organism": "Human", "refseq_name": "keratin, type II cuticular Hb1", "refseq_ac": "NP_002272", "gene_names_uniprotkb": "KRT81; KRTHB1; MLN137", "gene_names_refseq": "HB1; Hb-1; K81; KRT81; KRTHB1; MLN137; MNLIX2; ghHkb1; hHAKB2-1", "protein_names_uniprotkb": "Keratin, type II cuticular Hb1; Hair keratin K2.9; K81; Keratin, hair, basic, 1; Keratin-81; MLN 137; Metastatic lymph node 137 gene protein; Type II hair keratin Hb1; Type-II keratin Kb21; ghHKb1; ghHb1; hHb1", "protein_names_refseq": "hair keratin K2.9; hard keratin, type II, 1; keratin 81, type II; keratin, hair, basic, 1; keratin, type II cuticular Hb1; metastatic lymph node 137 gene protein; type II hair keratin Hb1; type-II keratin Kb21", "tax_id": 9606, "disease": "monilethrix 2 (Disease Ontology:DOID:0061152); breast cancer (Disease Ontology:DOID:1612); hair disease (Disease Ontology:DOID:421)", "pathway": " (hsa:3887); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 74, "publication_id_list": "10066784;10196183;10231017;10411887;10504448;10588656;10771479;11350120;11380615;11445569;11590230;12902340;15033990;15337775;15373777;15797384;15803139;16061697;16382671;16639001;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;2414304;25208914;25418920;25557232;25926655;26390218;26811146;26992070;27397612;29393594;29786170;32157095;32678982;32938616;33968037;34087483;34171305;34211107;34591651;35051231;35580925;36010968;37949677;7490069;7528047;7543090;7556444;8824274;8999895;9395522;9402962;9457912;9468612;9565599;9665406", "class_list": "", "function": "A Polymorphism at the microRNA Binding Site in the 3' Untranslated Region of KRT81 Is Associated with Breast Cancer., [RefSeq, PubMed]; Ectopic Expression of a Truncated Isoform of Hair Keratin 81 in Breast Cancer Alters Biophysical Characteristics to Promote Metastatic Propensity., [RefSeq, PubMed]; KRT81 Knockdown Inhibits Malignant Progression of Melanoma Through Regulating Interleukin-8., [RefSeq, PubMed]; Structural component of intermediate filaments in the hair cortex (PubMed:10504448, PubMed:9402962). Forms obligate heterodimers with type I hair keratins, which assemble into keratin intermediate filaments that contribute to the structural integrity and mechanical strength of the hair shaft (PubMed:10504448, PubMed:9402962)., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. Some human genome assemblies (example T2T-CHM13) have a non-coding version of the gene due to the presence of a SNP that introduces a premature stop codon after codon 281. [provided by RefSeq, Jan 2024]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q14846;Q16274;Q17R48;Q8WU52;Q9BR74", "ec_number_list": "", "go_molecular_function": "GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "GO:0031424 keratinization;GO:0045109 intermediate filament organization", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q14533-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IVA1-1", "uniprot_id": "PCP2_HUMAN", "mass": 14547.0, "length": 136, "protein_name": "Purkinje cell protein 2 homolog", "gene_name": "PCP2", "organism": "Human", "refseq_name": "Purkinje cell protein 2 homolog isoform 2", "refseq_ac": "NP_001258759", "gene_names_uniprotkb": "PCP2", "gene_names_refseq": "GPSM4; PCD5; PCP2", "protein_names_uniprotkb": "Purkinje cell protein 2 homolog", "protein_names_refseq": "CTD-3214H19.6; Purkinje cell protein 2 homolog isoform 2; Purkinje cell protein 2 homolog; Purkinje cell-specific protein 2; Purkinje cell-specific protein L7", "tax_id": 9606, "disease": "", "pathway": " (hsa:126006); (R-HSA-418594)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "11007482;12120503;15951850;16298104;16634148;16923326;18434541;18577758;18768681;2534964;2748346;2834384;31324691;7937899;8015379;8406495", "class_list": "", "function": "Characterization of the mouse 136 aa conserved isoform, Ret-PCP2, [RefSeq, PubMed]; May function as a cell-type specific modulator for G protein-mediated cell signaling., [UniProtKB]; The data demonstrate that PCP-2 is a comparatively weak GoLoco motif protein that exhibits highest affinity interactions and GDI activity toward Galphai1, Galphai2, and Galphai3 subunits., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "M0R2R7;Q3KRG7", "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": 1.7, "record_id": "Q8IVA1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5TAB7-1", "uniprot_id": "RIPP2_HUMAN", "mass": 13906.0, "length": 128, "protein_name": "Protein ripply2", "gene_name": "RIPPLY2", "organism": "Human", "refseq_name": "protein ripply2 isoform 1", "refseq_ac": "NP_001009994", "gene_names_uniprotkb": "RIPPLY2; C6orf159", "gene_names_refseq": "C6orf159; RIPPLY2; SCDO6; dJ237I15.1", "protein_names_uniprotkb": "Protein ripply2", "protein_names_refseq": "protein ripply2 isoform 1; protein ripply2; ripply2 homolog", "tax_id": 9606, "disease": "spondylocostal dysostosis (Disease Ontology:DOID:0050568); spondylocostal dysostosis 6 (Disease Ontology:DOID:0112360)", "pathway": " (hsa:134701); (R-HSA-9824272)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "16326386;17531978;25343988;28178531;29557506;32212228;33392160;33410135;38097876", "class_list": "", "function": "Compares Ripply proteins in zebrafish, mouse, human, and amphioxus., [RefSeq, PubMed]; Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6., [RefSeq, PubMed]; Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity., [RefSeq, PubMed]; Functional analysis of the mouse Ripply2 ortholog., [RefSeq, PubMed]; Plays a role in somitogenesis. Required for somite segregation and establishment of rostrocaudal polarity in somites (By similarity)., [UniProtKB, UniProtKB]; This gene encodes a nuclear protein that belongs to a novel family of proteins required for vertebrate somitogenesis. Members of this family have a tetrapeptide WRPW motif that is required for interaction with the transcriptional repressor Groucho and a carboxy-terminal Ripply homology domain/Bowline-DSCR-Ledgerline conserved region required for transcriptional repression. Null mutant mice die soon after birth and display defects in axial skeleton segmentation due to defective somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5TAB6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001756 somitogenesis;GO:0009880 embryonic pattern specification;GO:0032525 somite rostral/caudal axis specification", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q5TAB7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NS66-1", "uniprot_id": "GP173_HUMAN", "mass": 41481.0, "length": 373, "protein_name": "Probable G protein-coupled receptor 173", "gene_name": "GPR173", "organism": "Human", "refseq_name": "probable G-protein coupled receptor 173", "refseq_ac": "NP_061842", "gene_names_uniprotkb": "GPR173; SREB3", "gene_names_refseq": "GPR173; SREB3", "protein_names_uniprotkb": "Probable G protein-coupled receptor 173; Super conserved receptor expressed in brain 3", "protein_names_refseq": "probable G-protein coupled receptor 173; super conserved receptor expressed in brain 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:54328)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10833454;11237011;27184081;29557506;29724251;30779550;30933929;33196456;35051231", "class_list": "", "function": "A molecular model of GPR173 was constructed using the screening results. The combination of computational and biological methods will provide a unique approach to ligand identification for orphan GPCRs and brain research., [RefSeq, PubMed]; GPR173 agonist phoenixin 20 promotes osteoblastic differentiation of MC3T3-E1 cells., [RefSeq, PubMed]; Is a receptor for the SMIM20 derived peptides Phoenixin-14 and Phoenixin-20 (By similarity). It mediates the Phoenixin-14 and Phoenixin-20 augmentation of gonadotropin-releasing hormone (GNRH) signaling in the hypothalamus and pituitary gland (By similarity). In the ovary, it mediates the effects of Phoenixin-14 and Phoenixin-20 induced granulosa cell proliferation during follicular growth (PubMed:30933929)., [UniProtKB, PubMed, UniProtKB]; Single-nucleotide polymorphism rs13440883 in GPR173 was found to be significantly associated with systemic lupus erythematous Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the G-protein coupled receptor 1 family. This protein contains 7 transmembrane domains and conserved cysteine residues. [provided by RefSeq, Nov 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": 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": "B1B0A5", "ec_number_list": "", "go_molecular_function": "GO:0004968 gonadotropin-releasing hormone receptor activity;GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9NS66-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYU1-1", "uniprot_id": "PBX4_HUMAN", "mass": 40854.0, "length": 374, "protein_name": "Pre-B-cell leukemia transcription factor 4", "gene_name": "PBX4", "organism": "Human", "refseq_name": "pre-B-cell leukemia transcription factor 4", "refseq_ac": "NP_079521", "gene_names_uniprotkb": "PBX4", "gene_names_refseq": "PBX4", "protein_names_uniprotkb": "Pre-B-cell leukemia transcription factor 4; Homeobox protein PBX4", "protein_names_refseq": "homeobox protein PBX4; pre-B-cell leukemia homeobox 4; pre-B-cell leukemia transcription factor 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:80714)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;11335119;16959974;18193044;18987386;30379171;33592498;35051231;35740947", "class_list": "", "function": "Identifying the Potential Roles of PBX4 in Human Cancers Based on Integrative Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet. 2008 Nov;40(11):1384], [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the pre-B cell leukemia transcription factor family. These proteins are homeobox proteins that play critical roles in embryonic development and cellular differentiation both as Hox cofactors and through Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions of the protein have not been determined. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "A5D8Y0;B3KUK9", "ec_number_list": "", "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin;GO:0001741 XY body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007420 brain development;GO:0045893 positive regulation of DNA-templated transcription;GO:0009887 animal organ morphogenesis", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9BYU1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y625-1", "uniprot_id": "GPC6_HUMAN", "mass": 62736.0, "length": 555, "protein_name": "Glypican-6", "gene_name": "GPC6", "organism": "Human", "refseq_name": "glypican-6 precursor", "refseq_ac": "NP_005699", "gene_names_uniprotkb": "GPC6; PRO705", "gene_names_refseq": "GPC6; OMIMD1", "protein_names_uniprotkb": "Glypican-6", "protein_names_refseq": "glypican proteoglycan 6; glypican-6 precursor", "tax_id": 9606, "disease": "omodysplasia (Disease Ontology:DOID:0060288); omodysplasia 1 (Disease Ontology:DOID:0080844)", "pathway": " (hsa:10082); (R-HSA-1971475); (R-HSA-2022928); (R-HSA-2024096); (R-HSA-3560783); (R-HSA-3560801); (R-HSA-3656237); (R-HSA-3656253); (R-HSA-4420332); (R-HSA-9694614); (R-HSA-975634); (R-HSA-9769735); (R-HSA-9769739); (R-HSA-9820960); (R-HSA-9833110); (R-HSA-9918481); (R-HSA-9918485)", "pathway_count": 17, "publication_count": 295, "publication_id_list": "10.1038/emboj.2013.79;10026158;10052934;10318803;10329016;10446189;10466419;10473568;10480354;10480909;10506123;10639137;10644753;10677367;10716625;10769148;10842173;11027606;11035113;11060341;11087757;11099377;11169766;11181758;11238108;11274177;11274389;11279150;11337487;11390981;11391482;11477410;11551958;11607032;11747608;11833835;11877387;12052963;12138164;12213822;12441129;12492399;12522689;12682107;1279089;12907439;12927802;12975309;14519844;14762106;14976261;14982929;14993226;15010527;15082721;15084397;15098107;15140961;15163706;15211654;15294915;15358783;1542003;15461586;15474033;15507651;15583000;15607426;15647514;15838506;16151907;16161994;1618828;16200213;16343444;16619025;16939223;16960811;16962401;17033958;17194707;17506785;17525477;17598008;17635713;17644776;18087047;18266465;18295589;18420935;18460466;18507396;1856611;1874730;19014918;1902833;19139408;19297154;1930190;19344451;1946389;19473117;19481194;2040636;20410276;20427285;20554947;20560209;20560210;20576607;20650889;20691685;21068237;21106934;2122463;21325420;21700882;21763480;21851338;21871017;21911577;21932952;22090124;22144186;2248955;22496216;22618708;22652793;2271516;22786881;22810237;22816037;23006890;23084921;23105391;23584533;23621622;23656592;23658209;23664117;23664118;23683607;2384594;24074594;24106281;24227843;24425863;24443026;24554904;2538457;25521717;25645385;25713144;25854864;25855704;26056282;26092250;26212330;26311884;26468529;26953343;2704749;27108190;271951;27277342;27550352;27600516;27832191;2793848;28132690;28148688;28228285;29314611;29419409;29427996;29437578;29557506;29610346;29742433;29902443;30315122;30429286;30471091;3052293;30599162;30918026;31003762;31262782;31439947;31720911;31844290;32125455;32142651;32157095;32179150;32362314;32488085;32512386;32532959;32653452;32703818;3275472;32938616;32970989;32995803;33082293;33082294;33159882;33177556;33298900;33493182;33493263;33494095;33554856;33592498;33774649;33936100;33968037;34023935;34087483;34159616;34171305;34179075;34235261;34235568;34324210;34357683;34405274;34431042;34510494;34542788;34561887;34611326;34732583;34782609;34929169;35051231;35215846;3527261;35343766;35676258;36010968;36102648;36165234;36951953;3714052;37353964;3744129;37726033;37925034;3863104;3942763;4345202;5057882;5675424;6323392;6420172;6496574;6961410;6980899;7493035;7499257;7550340;7601448;7683668;7711731;8017323;8144529;8384721;8578528;8598903;8639673;8639781;8728311;8776591;8782816;8894688;8981950;9218519;9285796;9326317;9346953;9459334;9463333;9469622;9506957;9535912;9620772;9888420;9892646;9915799;9920938;9925661;9931503;9988767", "class_list": "glycogene", "function": "Cell surface proteoglycan that bears heparan sulfate. Putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases (By similarity). Enhances migration and invasion of cancer cells through WNT5A signaling., [UniProtKB, PubMed]; Five siblings expand the spectrum of GPC6-related skeletal dysplasia., [RefSeq, PubMed]; Prognostic value of GPC5 polymorphism rs2352028 and clinical characteristics in Chinese lung cancer patients., [RefSeq, PubMed]; The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 799, "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": "A8K279;Q96SG5;Q96SG8;Q9H1P4", "ec_number_list": "", "go_molecular_function": "GO:0015026 coreceptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0016477 cell migration;GO:0009966 regulation of signal transduction;GO:0098696 regulation of neurotransmitter receptor localization to postsynaptic specialization membrane", "synthesized_glycan_count": 0, "hit_score": 30.0, "record_id": "Q9Y625-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BVG3-1", "uniprot_id": "TRI62_HUMAN", "mass": 54268.0, "length": 475, "protein_name": "E3 ubiquitin-protein ligase TRIM62", "gene_name": "TRIM62", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM62 isoform 2", "refseq_ac": "NP_001317412", "gene_names_uniprotkb": "TRIM62", "gene_names_refseq": "DEAR1; TRIM62", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM62; 2.3.2.27; Tripartite motif-containing protein 62", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM62 isoform 2; E3 ubiquitin-protein ligase TRIM62; RING-type E3 ubiquitin transferase TRIM62; ductal epithelium-associated RING Chromosome 1; tripartite motif-containing protein 62", "tax_id": 9606, "disease": "", "pathway": " (hsa:55223); (R-HSA-877300)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10067896;10986460;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15388922;15530433;16237089;16467876;17125875;18362138;18591661;20049711;20130243;20304997;20363976;23061660;23402750;24417533;25892735;26488816;27793172;28228285;28514659;28832583;29242379;29493099;29557506;29786170;30429286;31844290;31848261;32157095;32357974;32488085;32938616;33093067;33239784;33298915;33691108;33968037;33981976;34087483;34171305;35469851;35561310;36010968;36631876;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9111318;9143706", "class_list": "", "function": "E3 ubiquitin ligase that plays a role in antifungal immunity by mediating 'Lys-27'-linked ubiquitination of CARD9 downstream of C-type lectin receptors; leading to CARD9 activation, followed by activation of NF-kappa-B and MAP kinase p38 pathways (PubMed:26488816). E3 ubiquitin ligase activity is dependent on E2 ubiquitin-conjugating enzyme UBE2D2 (PubMed:23402750)., [UniProtKB, PubMed, PubMed]; M2 macrophage-derived exosomal miR-193b-3p promotes progression and glutamine uptake of pancreatic cancer by targeting TRIM62. Publication Status: Online-Only, [RefSeq, PubMed]; Results found that TRIM62 was frequently down-regulated in both human cervical cancer (CC) cells and tissues. Low expression of TRIM62 in CC tissues was associated with aggressive clinicopathological features of CC patients. Its overexpression inhibits proliferation, migration and invasion of cervical cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM62 silencing represses the proliferation and invasion and increases the chemosensitivity of hepatocellular carcinoma cells by affecting the NF-kappaB pathway., [RefSeq, PubMed]; USP15 Deubiquitinates CARD9 to Downregulate C-Type Lectin Receptor-Mediated Signaling. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KVH5;B4DTE4;D3DPR1;Q9NVG0", "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:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0046596 regulation of viral entry into host cell;GO:0032897 negative regulation of viral transcription;GO:0045087 innate immune response;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0044314 protein K27-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9BVG3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86VS3-1", "uniprot_id": "IQCH_HUMAN", "mass": 117349.0, "length": 1027, "protein_name": "IQ domain-containing protein H", "gene_name": "IQCH", "organism": "Human", "refseq_name": "IQ domain-containing protein H isoform 5", "refseq_ac": "NP_001271278", "gene_names_uniprotkb": "IQCH", "gene_names_refseq": "IQCH; NYDSP5", "protein_names_uniprotkb": "IQ domain-containing protein H; Testis development protein NYD-SP5", "protein_names_refseq": "IQ domain-containing protein H isoform 5; IQ domain-containing protein H; testis development protein NYD-SP5", "tax_id": 9606, "disease": "", "pathway": " (hsa:64799)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;15897968;28832583;29242379;29557506;31492838;31844290;32157095;33592498;33981976;34171305;35051231;35580925;36241641", "class_list": "", "function": "May play a regulatory role in 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K8W3;C9JPR6;D6RJ88;Q4G0S6;Q8NEH9;Q9BWX2;Q9H9Y1;Q9UF88", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016607 nuclear speck", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q86VS3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96JW4-1", "uniprot_id": "S41A2_HUMAN", "mass": 62473.0, "length": 573, "protein_name": "Solute carrier family 41 member 2", "gene_name": "SLC41A2", "organism": "Human", "refseq_name": "solute carrier family 41 member 2 isoform a", "refseq_ac": "NP_115524", "gene_names_uniprotkb": "SLC41A2", "gene_names_refseq": "SLC41A1-L1; SLC41A2", "protein_names_uniprotkb": "Solute carrier family 41 member 2", "protein_names_refseq": "SLC41A1-like 1; solute carrier family 41 (magnesium transporter), member 2; solute carrier family 41 member 2 isoform a", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:84102); (R-HSA-425410)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10625641;11230166;11237011;11734551;15692071;15804357;16984228;17211682;17486601;19021540;19452451;22341971;22341972;23481700;25319704;25418920;25645385;25892735;26811146;26992070;28218747;28228285;28411811;28467828;28904123;29242379;29557506;29632046;29769354;30315122;30410026;30429286;30755481;31217245;31844290;32157095;32350084;32357974;32387766;32938616;32983136;33592498;33717175;33912179;33968037;34357683;34932366;35051231;35154160;36215666;36241641;9207117", "class_list": "", "function": "Acts as a magnesium transporter., [UniProtKB, UniProtKB]; Acts as a plasma-membrane magnesium transporter (PubMed:16984228). Can also mediate the transport of other divalent metal cations in an order of Ba(2+) > Ni(2+) > Co(2+) > Fe(2+) > Mn(2+) (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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3KP68;Q9H0E5", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0015095 magnesium ion transmembrane transporter activity;GO:0008324 monoatomic cation transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0015693 magnesium ion transport;GO:0030001 metal ion transport;GO:0006826 iron ion transport;GO:0006828 manganese ion transport;GO:0015675 nickel cation transport", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q96JW4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NV88-1", "uniprot_id": "INT9_HUMAN", "mass": 73814.0, "length": 658, "protein_name": "Integrator complex subunit 9", "gene_name": "INTS9", "organism": "Human", "refseq_name": "integrator complex subunit 9 isoform 2", "refseq_ac": "NP_001138631", "gene_names_uniprotkb": "INTS9; RC74", "gene_names_refseq": "CPSF2L; INT9; INTS9; RC74", "protein_names_uniprotkb": "Integrator complex subunit 9; Int9; Protein related to CPSF subunits of 74 kDa; RC-74", "protein_names_refseq": "integrator complex subunit 9 isoform 2; protein related to CPSF subunits of 74 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:55756); (R-HSA-6807505)", "pathway_count": 2, "publication_count": 107, "publication_id_list": "10022900;11237011;11856838;12414730;12574128;14701755;1535687;15684398;16239144;16308568;16901896;1739980;18079403;1829677;19667075;20457598;2125285;22137580;22231121;22252320;22441827;23166507;23481700;23904267;23932780;24097444;24270878;24715725;24997600;25201415;25418920;25576301;25675981;26154972;26308897;26375851;26992070;27846572;27920218;28063628;28218747;28228285;28396433;28514659;28832583;29242379;29393594;29437277;2944599;29471365;29493099;29508533;29557506;29632046;30315122;30429286;30737432;30779550;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33243860;33298915;33392160;33537174;33548203;33592498;33686175;33912179;33936100;33968037;34185709;34405274;34762484;35051231;35494241;35580925;36010968;36241641;36284347;36869814;38570683;39032489;39032490;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "class_list": "", "function": "Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:25201415, PubMed:33243860, PubMed:33548203, PubMed:38570683). The integrator complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the complex terminates transcription by (1) catalyzing dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, (2) degrading the exiting nascent RNA transcript via endonuclease activity and (3) promoting the release of Pol II from bound DNA (PubMed:33243860, PubMed:38570683). The integrator complex is also involved in terminating the synthesis of non-coding Pol II transcripts, such as enhancer RNAs (eRNAs), small nuclear RNAs (snRNAs), telomerase RNAs and long non-coding RNAs (lncRNAs) (PubMed:16239144, PubMed:22252320, PubMed:26308897, PubMed:30737432). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the integrator complex (PubMed:23904267)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The specific heterodimeric interaction between IntS9 and IntS11 is mediated by a discrete domain present at the extreme C terminus of IntS9 and within the C terminus of IntS11, adjacent to the predicted active site of this endonuclease., [RefSeq, PubMed]; This gene encodes a subunit of the Integrator complex. This protein complex binds the C-terminal domain of RNA polymerase II and likely plays a role in small nuclear RNA processing. The encoded protein has similarities to the subunits of the cleavage and polyadenylation specificity factor complex. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 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": 7, "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": "B7Z560;B7Z6M5;O00224;Q8TB16", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0032039 integrator complex", "go_biological_process": "GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway;GO:0016180 snRNA processing;GO:0034472 snRNA 3'-end processing;GO:0160240 RNA polymerase II transcription initiation surveillance", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q9NV88-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRS4-1", "uniprot_id": "TMPS4_HUMAN", "mass": 48246.0, "length": 437, "protein_name": "Transmembrane protease serine 4", "gene_name": "TMPRSS4", "organism": "Human", "refseq_name": "transmembrane protease serine 4 isoform 3", "refseq_ac": "NP_001077416", "gene_names_uniprotkb": "TMPRSS4; PRO1570; TMPRSS3", "gene_names_refseq": "CAP2; CAPH2; MT-SP2; TMPRSS3; TMPRSS4", "protein_names_uniprotkb": "Transmembrane protease serine 4; 3.4.21.-; CAPH2; Channel-activating protease 2; MT-SP2; Membrane-type serine protease 2", "protein_names_refseq": "channel-activating protease 2; channel-activating serine protease 2; membrane-type serine protease 2; transmembrane protease serine 4 isoform 3; transmembrane protease, serine 4; transmembrane serine protease 3; type II membrane serine protease", "tax_id": 9606, "disease": "", "pathway": " (hsa:56649)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10825129;11237011;12975309;17968309;19158246;20118200;20631123;24434139;25203520;29557506;32404436;33392160;34171305;34173918;34379296;34595980;35580925;35970857;36380313", "class_list": "", "function": "(Microbial infection) In gut epithelial cells, facilitates human coronavirus SARS-CoV-2 infection through, at least, the cleavage of coronavirus spike glycoproteins which activates the glycoprotein for host cell entry., [UniProtKB, PubMed]; Increased TRIM31 gene expression is positively correlated with SARS-CoV-2 associated genes TMPRSS2 and TMPRSS4 in gastrointestinal cancers. Publication Status: Online-Only, [RefSeq, PubMed]; Plasma membrane-anchored serine protease that directly induces processing of pro-uPA/PLAU into the active form through proteolytic activity (PubMed:24434139). Seems to be capable of activating ENaC (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]; RNAi-mediated knockdown of TMPRSS2 and TMPRSS4 in Caco-2 cells, which released fully infectious virus without trypsin treatment, markedly reduced the spread of influenza virus, demonstrating that these proteases were responsible for activation of HA., [RefSeq, PubMed]; TMPRSS4 expression was significantly higher in human colorectal cancer tissues from advanced stages than in that of early stage., [RefSeq, PubMed]; TMPRSS4 is a novel biomarker and correlated with immune infiltration in thyroid carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; TMPRSS4 overexpression promotes the metastasis of colorectal cancer and predicts poor prognosis of stage III-IV colorectal cancer., [RefSeq, PubMed]; TMPRSS4 plays a role in invasion, metastasis, migration and adhesion in cancer cells. TMPRSS4 may contribute to tumor cell invasion and metastasis by promoting an epithelial-mesenchymal transition(EMT) through the strong SIP1/ZEB2 induction., [RefSeq, PubMed]; The authors provide evidence that TMPRSS2 and TMPRSS4 activate the 1918 HA by cleavage and therefore may promote viral spread in lung tissue., [RefSeq, PubMed]; This gene encodes a member of the serine protease family. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified as a gene overexpressed in pancreatic carcinoma. The encoded protein is membrane bound with a N-terminal anchor sequence and a glycosylated extracellular region containing the serine protease domain. The protein has been found to promote SARS-CoV-2 entry into host cells. [provided by RefSeq, Aug 2021]., [RefSeq]; Transmembrane Protease TMPRSS4 Promotes the Formation and Development of Mismatch Repair Deficient Colon Cancer Liver Metastasis. Erratum:[Bull Exp Biol Med. 2021 Nov;172(1):112. doi: 10.1007/s10517-021-05343-9. PMID: 34796428], [RefSeq, PubMed]; Utility of TMPRSS4 as a Prognostic Biomarker and Potential Therapeutic Target in Patients with Gastric Cancer., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 13, "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": "A8MU84;B0YJB0;B7Z8C5;E7ERX8;Q5XKQ6;Q6UX37;Q9NZA5", "ec_number_list": "", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030141 secretory granule;GO:0005576 extracellular region", "go_biological_process": "GO:0006508 proteolysis;GO:0016485 protein processing;GO:0046598 positive regulation of viral entry into host cell;GO:0010468 regulation of gene expression;GO:0045967 negative regulation of growth rate", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9NRS4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRL3-1", "uniprot_id": "STRN4_HUMAN", "mass": 80596.0, "length": 753, "protein_name": "Striatin-4", "gene_name": "STRN4", "organism": "Human", "refseq_name": "striatin-4 isoform 2", "refseq_ac": "NP_001034966", "gene_names_uniprotkb": "STRN4; ZIN", "gene_names_refseq": "PPP2R6C; STRN4; ZIN; zinedin", "protein_names_uniprotkb": "Striatin-4; Zinedin", "protein_names_refseq": "protein phosphatase 2 regulatory subunit B'''gamma; striatin, calmodulin binding protein 4; striatin-4 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:29888)", "pathway_count": 1, "publication_count": 76, "publication_id_list": "10748158;11237011;17081983;18212344;18452278;18669648;18782753;19413330;19651622;19690332;19913121;20068231;21209280;21406692;23186163;23301498;23481700;24715725;25576301;25645385;26154972;26375851;26876214;26992070;27846572;27920218;28218747;28228285;28352266;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29786170;30315122;30379171;30410026;30524438;31154438;31217245;31530632;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32502341;32640226;32897882;32938616;33141586;33298915;33392160;33936100;33968037;33981976;34087483;34171305;34375307;34509645;34932366;35051231;35132862;35318648;35580925;36010968;36241641;37217939;37938771;38665916;40914422", "class_list": "", "function": "Calmodulin-binding scaffolding protein which is the center of the striatin-interacting phosphatase and kinase (STRIPAK) complexes (PubMed:18782753, PubMed:32640226). STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling (PubMed:32640226). Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation (Probable). Key regulator of the expanded Hippo signaling pathway by interacting and allowing the inhibition of MAP4K kinases by the STRIPAK complex (PubMed:32640226)., [UniProtKB, PubMed, PubMed, PubMed]; Epigenetic modifications precede molecular alterations and drive human hepatocarcinogenesis. Publication Status: Online-Only, [RefSeq, 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": 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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "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": "A0A024R0V2;B4DQH7;F8VYA6;Q8NE53", "ec_number_list": "", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0030674 protein-macromolecule adaptor activity;GO:0044877 protein-containing complex binding;GO:0051721 protein phosphatase 2A binding;GO:0070016 armadillo repeat domain binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005737 cytoplasm;GO:0030425 dendrite;GO:0043025 neuronal cell body", "go_biological_process": "GO:0035330 regulation of hippo signaling;GO:0035331 negative regulation of hippo signaling;GO:0099159 regulation of modification of postsynaptic structure", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q9NRL3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H7Z6-1", "uniprot_id": "KAT8_HUMAN", "mass": 52403.0, "length": 458, "protein_name": "Histone acetyltransferase KAT8", "gene_name": "KAT8", "organism": "Human", "refseq_name": "histone acetyltransferase KAT8 isoform 1", "refseq_ac": "NP_115564", "gene_names_uniprotkb": "KAT8; MOF; MYST1; PP7073", "gene_names_refseq": "KAT8; LIGOWS; MOF; MYST1; ZC2HC8; hMOF", "protein_names_uniprotkb": "Histone acetyltransferase KAT8; 2.3.1.-; 2.3.1.48; Lysine acetyltransferase 8; MOZ, YBF2/SAS3, SAS2 and TIP60 protein 1; MYST-1; Males-absent on the first protein homolog; Protein acetyltransferase KAT8; Protein propionyltransferase KAT8; hMOF", "protein_names_refseq": "K(lysine) acetyltransferase 8; MOZ, YBF2/SAS3, SAS2 and TIP60 protein 1; MYST histone acetyltransferase 1; MYST-1; histone acetyltransferase KAT8 isoform 1; histone acetyltransferase KAT8; histone acetyltransferase MYST1; males-absent on the first protein homolog; ortholog of Drosophila males absent on the first (MOF); probable histone acetyltransferase MYST1; protein acetyltransferase KAT8; protein propionyltransferase KAT8", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); Li-Ghorbani-Weisz-Hubshman syndrome (MONDO:MONDO:0033547)", "pathway": " (hsa:84148); (R-HSA-3214847); (R-HSA-9772755)", "pathway_count": 3, "publication_count": 174, "publication_id_list": "10.1101/2023.09.13.557529;10786633;10821277;11237011;12393701;12397079;12482972;12670868;14636557;14992727;15199122;15313887;15498874;15923642;15960975;16227571;16239140;16387653;16543150;16829959;16878130;16892064;17189187;17355966;17500065;17612494;17671196;17925232;17998332;18381289;18598942;18623064;18691976;18829457;18829459;18838386;18838538;19103755;19124460;19187761;19187765;19413330;19556245;19608861;19854137;20018852;20068231;20575550;20620954;20716525;20961854;21106533;21124902;21131905;21135039;21217699;21220120;21691301;22020126;22266653;22327296;22547026;22652693;22665483;22918831;23186163;23481700;23508102;23995757;24244196;24368734;24680668;24714562;24715725;24953651;25418920;25561738;25576301;25593305;25645385;25880248;25892735;26154972;26324722;26375851;26505788;26728094;26811146;26886794;26929215;26992070;27292636;27382063;27563068;27600516;27698142;27760318;27768893;27846572;27920218;28182322;28218747;28228285;28398509;28832583;28834231;28904123;28991411;29138278;29242379;29321206;29331515;29393594;29493099;29508533;29557506;29632711;29769354;29786170;29897600;29937342;30224647;30315122;30429286;30779550;30833945;31154438;31217245;31222486;31400120;31485071;31544921;31794431;31844290;31848261;32157095;32357974;32488085;32502341;32938616;32983136;33123756;33298915;33537174;33592498;33657400;33691108;33717175;33837287;33912179;33968037;33981976;34012049;34019948;34087483;34171305;34932366;34933446;35033534;35051231;35190547;35318648;35439434;35580925;36010968;36241641;36284347;37369679;37566546;38135180;38411274;9427644;9558366;9880483", "class_list": "", "function": "Histone acetyltransferase that catalyzes histone H4 acetylation at 'Lys-5'- and 'Lys-8' (H4K5ac and H4K8ac) or 'Lys-16' (H4K16ac), depending on the context (PubMed:12397079, PubMed:16227571, PubMed:16543150, PubMed:20018852, PubMed:21217699, PubMed:22020126, PubMed:22547026, PubMed:31794431, PubMed:33837287). Catalytic component of the MSL histone acetyltransferase complex, a multiprotein complex that mediates the majority of histone H4 acetylation at 'Lys-16' (H4K16ac), an epigenetic mark that prevents chromatin compaction (PubMed:12397079, PubMed:16227571, PubMed:16543150, PubMed:21217699, PubMed:22020126, PubMed:22547026, PubMed:33657400, PubMed:33837287). H4K16ac constitutes the only acetylation mark intergenerationally transmitted and regulates key biological processes, such as oogenesis, embryonic stem cell pluripotency, hematopoiesis or glucose metabolism (By similarity). The MSL complex is required for chromosome stability and genome integrity by maintaining homeostatic levels of H4K16ac (PubMed:33837287). The MSL complex is also involved in gene dosage by promoting up-regulation of genes expressed by the X chromosome (By similarity). X up-regulation is required to compensate for autosomal biallelic expression (By similarity). The MSL complex also participates in gene dosage compensation by promoting expression of Tsix non-coding RNA (By similarity). As part of the NSL histone acetyltransferase complex, catalyzes histone H4 acetylation at 'Lys-5'- and 'Lys-8' (H4K5ac and H4K8ac) at transcription start sites and promotes transcription initiation (PubMed:20018852, PubMed:22547026, PubMed:33657400). The NSL complex also acts as a regulator of gene expression in mitochondria: KAT8 associates with mitochondrial DNA and controls expression of respiratory genes in an acetyltransferase-dependent mechanism (PubMed:27768893). Also functions as an acetyltransferase for non-histone targets, such as ALKBH5, COX17, IRF3, KDM1A/LSD1, LMNA, PAX7 or TP53/p53 (PubMed:17189187, PubMed:19854137, PubMed:37369679). Acts as an inhibitor of antiviral immunity by acetylating IRF3, preventing IRF3 recruitment to promoters (By similarity). Acts as a regulator of asymmetric division in muscle stem cells by mediating acetylation of PAX7 (By similarity). As part of the NSL complex, acetylates TP53/p53 at 'Lys-120' (PubMed:17189187, PubMed:19854137). Acts as a regulator of epithelial-to-mesenchymal transition as part of the NSL complex by mediating acetylation of KDM1A/LSD1 (PubMed:27292636). The NSL complex is required for nuclear architecture maintenance by mediating acetylation of LMNA (By similarity). Promotes mitochondrial integrity by catalyzing acetylation of COX17 (By similarity). In addition to protein acetyltransferase activity, able to mediate protein propionylation (PubMed:29321206)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Hotspot Cancer Mutation Impairs KAT8-mediated Nucleosomal Histone Acetylation., [RefSeq, PubMed]; KAT8/SIRT7-mediated Fascin-K41 acetylation/deacetylation regulates tumor metastasis in esophageal squamous cell carcinoma., [RefSeq, PubMed]; MOF-mediated acetylation of SIRT6 disrupts SIRT6-FOXA2 interaction and represses SIRT6 tumor-suppressive function by upregulating ZEB2 in NSCLC., [RefSeq, PubMed]; This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 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": 25, "reported_glycation": 0, "reported_snv": 16, "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": "A8K4Z1;G5E9P2;Q659G0;Q7LC17;Q8IY59;Q8WYB4;Q8WZ14;Q9HAC5;Q9NR35", "ec_number_list": "2.3.1.48;2.3.1.-;2.4.1.255;2.7.11.1;2.3.1.57;2.3.1.259;2.3.2.27;2.3.1.80", "go_molecular_function": "GO:0061733 protein-lysine-acetyltransferase activity;GO:0061920 protein propionyltransferase activity;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0035267 NuA4 histone acetyltransferase complex;GO:0016363 nuclear matrix", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0010506 regulation of autophagy;GO:0045892 negative regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0045815 transcription initiation-coupled chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 17.9, "record_id": "Q9H7Z6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQX5-1", "uniprot_id": "NPDC1_HUMAN", "mass": 34516.0, "length": 325, "protein_name": "Neural proliferation differentiation and control protein 1", "gene_name": "NPDC1", "organism": "Human", "refseq_name": "neural proliferation differentiation and control protein 1 precursor", "refseq_ac": "NP_056207", "gene_names_uniprotkb": "NPDC1", "gene_names_refseq": "CAB-1; CAB-; CAB1; CAB; NPDC-1; NPDC1", "protein_names_uniprotkb": "Neural proliferation differentiation and control protein 1; NPDC-1", "protein_names_refseq": "neural proliferation differentiation and control protein 1 precursor; neural proliferation differentiation and control protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56654); (R-HSA-198933)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10499918;10746781;11237011;11245976;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;14719373;14970179;15034010;15136729;15155468;15187158;15229225;15304001;15534202;15541655;15563841;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;19007248;19149696;19359216;19592130;20068231;20730098;21241660;21800138;21841309;21877119;22396535;23186163;23584533;23695528;23929856;24305946;25703557;25716998;25813380;26284469;26300885;28832583;29242379;30459171;31154438;32161166;33968037;34171305;36284347;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "Human gene mapped to chromosome 9q34.3., [RefSeq, PubMed]; NPDC-1 has a role in regulating neuronal proliferation and is degraded by the ubiquitin/proteasome system through a PEST degradation motif, [RefSeq, PubMed]; Suppresses oncogenic transformation in neural and non-neural cells and down-regulates neural cell proliferation. Might be involved in transcriptional regulation (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": 0, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "Q5SPY8;Q9BTD6;Q9BXT3;Q9NQS2;Q9Y434", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q9NQX5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P48048-1", "uniprot_id": "KCNJ1_HUMAN", "mass": 44795.0, "length": 391, "protein_name": "ATP-sensitive inward rectifier potassium channel 1", "gene_name": "KCNJ1", "organism": "Human", "refseq_name": "ATP-sensitive inward rectifier potassium channel 1 isoform a", "refseq_ac": "NP_000211", "gene_names_uniprotkb": "KCNJ1; ROMK1", "gene_names_refseq": "KCNJ1; KIR1.1; ROMK1; ROMK", "protein_names_uniprotkb": "ATP-sensitive inward rectifier potassium channel 1; ATP-regulated potassium channel ROM-K; Inward rectifier K(+) channel Kir1.1; Potassium channel, inwardly rectifying subfamily J member 1", "protein_names_refseq": "ATP-regulated potassium channel ROM-K; ATP-sensitive inward rectifier potassium channel 1 isoform a; ATP-sensitive inward rectifier potassium channel 1; inward rectifier K(+) channel Kir1.1; inwardly rectifying K+ channel; potassium channel, inwardly rectifying subfamily J member 1; potassium voltage-gated channel subfamily J member 1", "tax_id": 9606, "disease": "Bartter disease type 2 (Disease Ontology:DOID:0110143); nephrotic syndrome (Disease Ontology:DOID:1184)", "pathway": " (hsa:3758); (R-HSA-1296067)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10889209;12217858;12221079;12556363;12684516;14623317;15987778;16357011;16959974;19221509;24715725;31731540;33058840;33392160;33444624;35051231;37074453;7635463;7929082;8190102;8621594;8841184;9002665;9099852;9312136;9727001", "class_list": "", "function": "Association of polymorphisms of calcium reabsorption genes SLC12A1, KCNJ1 and SLC8A1 with colorectal adenoma., [RefSeq, PubMed]; Eight novel KCNJ1 variants and parathyroid hormone overaction or resistance in 5 probands with Bartter syndrome type 2., [RefSeq, PubMed]; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This channel is activated by internal ATP and can be blocked by external barium. In the kidney, probably plays a major role in potassium homeostasis., [UniProtKB, PubMed, PubMed]; Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Single-Channel Properties of the ROMK-Pore-Forming Subunit of the Mitochondrial ATP-Sensitive Potassium Channel. Publication Status: Online-Only, [RefSeq, PubMed]; Solubilization, purification, and functional reconstitution of human ROMK potassium channel in copolymer styrene-maleic acid (SMA) nanodiscs., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RMR4;Q6LD67", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005524 ATP binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0005267 potassium channel activity;GO:0005242 inward rectifier potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0034765 regulation of monoatomic ion transmembrane transport;GO:1990573 potassium ion import across plasma membrane;GO:0010467 gene expression", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P48048-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07197-1", "uniprot_id": "NFM_HUMAN", "mass": 102472.0, "length": 916, "protein_name": "Neurofilament medium polypeptide", "gene_name": "NEFM", "organism": "Human", "refseq_name": "neurofilament medium polypeptide isoform 1", "refseq_ac": "NP_005373", "gene_names_uniprotkb": "NEFM; NEF3; NFM", "gene_names_refseq": "NEF3; NEFM; NF-M; NFM", "protein_names_uniprotkb": "Neurofilament medium polypeptide; 160 kDa neurofilament protein; NF-M; Neurofilament 3; Neurofilament triplet M protein", "protein_names_refseq": "160 kDa neurofilament protein; neurofilament 3; neurofilament medium polypeptide isoform 1; neurofilament medium polypeptide; neurofilament triplet M protein; neurofilament, medium polypeptide 150kDa; neurofilament-3 (150 kD medium)", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); Alzheimer's disease (Disease Ontology:DOID:10652); sciatic neuropathy (Disease Ontology:DOID:11446); hypothyroidism (Disease Ontology:DOID:1459); transient cerebral ischemia (Disease Ontology:DOID:224); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526)", "pathway": " (hsa:4741)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11230166;11237011;15345747;1537832;17287340;18452278;18510355;18726912;19531498;20166139;21406692;23301498;2450354;27846572;28634551;28657654;29557506;30379171;30429286;31154438;31844290;32157095;32488085;34001208;34171305;34185709;35051231;35580925;3608989;36200879;36284347;37541260;37938771;38253038;8621664", "class_list": "", "function": "NEFM DNA methylation correlates with immune infiltration and survival in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Neurodegeneration Markers in the Cerebrospinal Fluid of 100 Patients with Schizophrenia Spectrum Disorder., [RefSeq, PubMed]; Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]., [RefSeq]; Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks (By similarity)., [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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 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": 31, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B4DGN2;E9PBF7;Q4QRK6", "ec_number_list": "", "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0008017 microtubule binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0030424 axon;GO:0043204 perikaryon;GO:0005882 intermediate filament;GO:0045111 intermediate filament cytoskeleton;GO:0005883 neurofilament", "go_biological_process": "GO:0033693 neurofilament bundle assembly", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P07197-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WXF1-1", "uniprot_id": "PSPC1_HUMAN", "mass": 58744.0, "length": 523, "protein_name": "Paraspeckle component 1", "gene_name": "PSPC1", "organism": "Human", "refseq_name": "paraspeckle component 1 isoform 1", "refseq_ac": "NP_001035879", "gene_names_uniprotkb": "PSPC1; PSP1", "gene_names_refseq": "PSP1; PSPC1", "protein_names_uniprotkb": "Paraspeckle component 1; Paraspeckle protein 1", "protein_names_refseq": "paraspeckle component 1 isoform 1; paraspeckle protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55269)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "11237011;11790299;16148043;17525332;19664995;20068231;22416126;22424782;23186163;23555621;24129315;24715725;25576301;25645385;26154972;26992070;27920218;28218747;28228285;28712728;28832583;28904123;29242379;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30410026;30429286;30524438;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34229054;34509645;34561969;35051231;35132862;35580925;37369679;38665916;38793620;40596516;40914422", "class_list": "", "function": "PSPC1 Binds to HCV IRES and Prevents Ribosomal Protein S5 Binding, Inhibiting Viral RNA Translation. Publication Status: Online-Only, [RefSeq, PubMed]; RNA-binding protein required for the formation of nuclear paraspeckles (PubMed:22416126). Binds to poly(A), poly(G) and poly(U) RNA homopolymers (PubMed:22416126). Regulates, cooperatively with NONO and SFPQ, androgen receptor-mediated gene transcription activity in Sertoli cell line (By similarity). Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-BMAL1 heterodimer (By similarity). 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, UniProtKB, PubMed]; This gene encodes a nucleolar protein that localizes to punctate subnuclear structures that occur close to splicing speckles, known as paraspeckles. These paraspeckles are composed of RNA-protein structures that include a non-coding RNA, NEAT1/Men epsilon/beta, and the Drosophila Behavior Human Splicing family of proteins, which include the product of this gene and the P54NRB/NONO and PSF/SFPQ proteins. Paraspeckles may function in the control of gene expression via an RNA nuclear retention mechanism. The protein encoded by this gene is found in paraspeckles in transcriptionally active cells, but it localizes to unique cap structures at the nucleolar periphery when RNA polymerase II transcription is inhibited, or during telophase. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene, which is also located on chromosome 13, has been identified. [provided by RefSeq, Aug 2011]., [RefSeq]; We map the domain within PSP1 that is mediating this interaction and show it is required for the correct localization of PSP1 to paraspeckles. This interaction is necessary but not sufficient for paraspeckle targeting by PSP1, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "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": "Q5JTQ3;Q8NCZ9;Q8WXE8;Q9NV36", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0001650 fibrillar center", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045087 innate immune response;GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0042752 regulation of circadian rhythm", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q8WXF1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZR6-1", "uniprot_id": "RTN4R_HUMAN", "mass": 50708.0, "length": 473, "protein_name": "Reticulon-4 receptor", "gene_name": "RTN4R", "organism": "Human", "refseq_name": "reticulon-4 receptor precursor", "refseq_ac": "NP_075380", "gene_names_uniprotkb": "RTN4R; NOGOR; PRO526", "gene_names_refseq": "NGR; NOGOR; NgR1; RTN4R", "protein_names_uniprotkb": "Reticulon-4 receptor; NgR; Nogo receptor; Nogo-66 receptor", "protein_names_refseq": "Nogo-66 receptor; UNQ330/PRO526; nogo receptor; reticulon-4 receptor precursor", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:65078); (R-HSA-193634)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11201742;11237011;11891768;12037567;12068310;12089450;12183616;12426574;12692556;12694398;12718853;12839991;12975309;14966521;15340161;15532024;16712417;18411262;18477386;19052207;20697954;22325200;24190977;25813380;28892071;29242379;29557506;30459171;31649250;31728810;32350084;33479772;34357683;34758294;35251023;37276413", "class_list": "", "function": "(Microbial infection) Acts as a receptor for Reovirus type 3., [UniProtKB, PubMed]; Modulation of Nogo receptor 1 expression orchestrates myelin-associated infiltration of glioblastoma., [RefSeq, PubMed]; RTN4/NoGo-receptor binding to BAI adhesion-GPCRs regulates neuronal development. Erratum:[Cell. 2022 Jan 6;185(1):218. doi: 10.1016/j.cell.2021.12.017. PMID: 34995515], [RefSeq, PubMed]; Receptor for RTN4, OMG and MAG (PubMed:12037567, PubMed:12068310, PubMed:12089450, PubMed:12426574, PubMed:12839991, PubMed:16712417, PubMed:18411262, PubMed:19052207). Functions as a receptor for the sialylated gangliosides GT1b and GM1 (PubMed:18411262). Besides, functions as a receptor for chondroitin sulfate proteoglycans (By similarity). Can also bind heparin (By similarity). Intracellular signaling cascades are triggered via the coreceptor NGFR (PubMed:12426574). Signaling mediates activation of Rho and downstream reorganization of the actin cytoskeleton (PubMed:16712417, PubMed:22325200). Mediates axonal growth inhibition (PubMed:12839991, PubMed:19052207, PubMed:28892071). Plays a role in regulating axon regeneration and neuronal plasticity in the adult central nervous system. Plays a role in postnatal brain development. Required for normal axon migration across the brain midline and normal formation of the corpus callosum. Protects motoneurons against apoptosis; protection against apoptosis is probably mediated via interaction with MAG. Acts in conjunction with RTN4 and LINGO1 in regulating neuronal precursor cell motility during cortical development. Like other family members, plays a role in restricting the number dendritic spines and the number of synapses that are formed during brain development (PubMed:22325200)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; SATB2 and NRG1 overexpression induced many of the signaling pathways., [RefSeq, PubMed]; The treatment of glioblastoma multiforme cells with TGFb1 suppressed NgR maturation. We showed that NgR and vimentin interact, which could be a possible mechanism for the suppression of NgR maturation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the receptor for reticulon 4, oligodendrocyte myelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central nervous system. [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": 4, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "D3DX28", "ec_number_list": "", "go_molecular_function": "GO:0038131 neuregulin receptor activity;GO:1905573 ganglioside GM1 binding;GO:0008201 heparin binding;GO:0035374 chondroitin sulfate binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043025 neuronal cell body", "go_biological_process": "GO:0023041 neuronal signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0043547 positive regulation of GTPase activity;GO:0010977 negative regulation of neuron projection development;GO:0035025 positive regulation of Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9BZR6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P54819-1", "uniprot_id": "KAD2_HUMAN", "mass": 26478.0, "length": 239, "protein_name": "Adenylate kinase 2, mitochondrial", "gene_name": "AK2", "organism": "Human", "refseq_name": "adenylate kinase 2, mitochondrial isoform c", "refseq_ac": "NP_001186128", "gene_names_uniprotkb": "AK2; ADK2", "gene_names_refseq": "ADK2; AK2", "protein_names_uniprotkb": "Adenylate kinase 2, mitochondrial; 2.7.4.3; AK 2; ATP-AMP transphosphorylase 2; ATP:AMP phosphotransferase; Adenylate monophosphate kinase", "protein_names_refseq": "ATP-AMP transphosphorylase 2; ATP:AMP phosphotransferase; adenylate kinase 2, mitochondrial isoform c; adenylate kinase isoenzyme 2, mitochondrial; adenylate monophosphate kinase; testis secretory sperm-binding protein Li 220n", "tax_id": 9606, "disease": "reticular dysgenesis (Disease Ontology:DOID:0060020); temporal lobe epilepsy (Disease Ontology:DOID:3328)", "pathway": " (hsa:204); (R-HSA-499943)", "pathway_count": 2, "publication_count": 139, "publication_id_list": "10215863;10453732;10618642;10716435;10799505;10884394;10899599;11237011;11277919;11278511;11517226;11796141;11912132;12972261;13211603;14729598;15630091;16179339;16373698;16408927;16756507;16820675;17320107;177353;17824959;18469;1851158;18635542;18997010;19043416;19043417;19054851;19176520;19220460;19766732;20068231;21080915;211388;211390;22424782;22847445;22898188;23186163;23301498;23416111;23481700;24275569;24366607;24715725;2542324;25576301;25645385;26154972;26375851;2656695;2668278;26768311;26992070;27600516;27920218;28228285;28832583;28834231;28904123;29242379;29314611;29331515;29508533;29557506;29632046;29632711;30192525;30315122;30379171;30524438;30779550;31154438;31530632;31844290;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34433824;34509645;34561969;34932366;35051231;35083852;35251023;35580925;35585049;36010968;36215666;36241641;36284347;37161605;37527777;37938771;38598835;38665916;40596516;40615;5484814;6182143;6248551;7685356;7851394;8448179;8663313;8843353;9434148;9488696;9504408;9677297", "class_list": "", "function": "AK2 is an AMP-sensing negative regulator of BRAF in tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Adenylate kinase 2 is a biomarker related to the prognosis of glioma and the immune microenvironment., [RefSeq, PubMed]; Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]., [RefSeq]; Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Adenylate kinase activity is critical for regulation of the phosphate utilization and the AMP de novo biosynthesis pathways. Plays a key role in hematopoiesis., [UniProtKB, HAMAP, PubMed, UniProtKB]; Colorectal cancer-associated mutations impair EphB1 kinase function., [RefSeq, PubMed]; NSD2 drives t(4;14) myeloma cell dependence on adenylate kinase 2 by diverting one-carbon metabolism to the epigenome., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8K6L1;B4DHH7;B4DL64;Q16856;Q5EB54;Q5TIF7;Q8TCY2;Q8TCY3", "ec_number_list": "2.7.4.10;2.7.4.6;2.7.4.3;2.7.4.4;2.7.4.14", "go_molecular_function": "GO:0004017 AMP kinase activity;GO:0005524 ATP binding;GO:0019205 nucleobase-containing compound kinase activity;GO:0016776 phosphotransferase activity, phosphate group as acceptor", "go_cellular_component": "GO:0097226 sperm mitochondrial sheath;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0015949 nucleobase-containing small molecule interconversion;GO:0006172 ADP biosynthetic process;GO:0046033 AMP metabolic process;GO:0046034 ATP metabolic process;GO:0009117 nucleotide metabolic process", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "P54819-1", "record_type": "protein" }, { "uniprot_canonical_ac": "B3KU38-1", "uniprot_id": "IQIP1_HUMAN", "mass": 62248.0, "length": 563, "protein_name": "IQCJ-SCHIP1 readthrough transcript protein", "gene_name": "IQCJ-SCHIP1", "organism": "Human", "refseq_name": "IQCJ-SCHIP1 readthrough transcript protein isoform 1", "refseq_ac": "NP_001184042", "gene_names_uniprotkb": "IQCJ-SCHIP1", "gene_names_refseq": "IQCJ-SCHIP1", "protein_names_uniprotkb": "IQCJ-SCHIP1 readthrough transcript protein", "protein_names_refseq": "IQ motif containing J-schwannomin interacting protein 1 fusion protein; IQ motif containing J-schwannomin interacting protein 1 read-through transcript; IQCJ-SCHIP1 readthrough transcript protein isoform 1; IQCJ-SCHIP1 readthrough transcript protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:100505385)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;17045569;23186163;25950943;29557506", "class_list": "", "function": "May play a role in action potential conduction in myelinated cells through the organization of molecular complexes at nodes of Ranvier and axon initial segments (PubMed:25950943). May also play a role in axon outgrowth and guidance (By similarity)., [UniProtKB, PubMed, UniProtKB]; This locus represents naturally occurring read-through transcription from the neighboring IQ motif containing J (IQCJ) and schwannomin interacting protein 1 (SCHIP1) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. The resulting fusion products are thought to be components of the multimolecular complexes of axon initial segments and nodes of Ranvier, and they may play a role in calcium-mediated responses. [provided by RefSeq, Oct 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B3KRM0;O75543;Q00P30;Q00P31;Q7Z3Y3;Q8IY83;Q9P0W3;Q9P0W4;Q9P0W5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030054 cell junction;GO:0043194 axon initial segment", "go_biological_process": "GO:0051494 negative regulation of cytoskeleton organization;GO:0035332 positive regulation of hippo signaling", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "B3KU38-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9ULH0-1", "uniprot_id": "KDIS_HUMAN", "mass": 196542.0, "length": 1771, "protein_name": "Kinase D-interacting substrate of 220 kDa", "gene_name": "KIDINS220", "organism": "Human", "refseq_name": "kinase D-interacting substrate of 220 kDa isoform 1", "refseq_ac": "NP_065789", "gene_names_uniprotkb": "KIDINS220; ARMS; KIAA1250", "gene_names_refseq": "ARMS; KIDINS220; SINO; VENARG", "protein_names_uniprotkb": "Kinase D-interacting substrate of 220 kDa; Ankyrin repeat-rich membrane-spanning protein", "protein_names_refseq": "ankyrin repeat-rich membrane-spanning protein; kinase D-interacting substrate 220kDa; kinase D-interacting substrate of 220 kDa isoform 1", "tax_id": 9606, "disease": "spastic paraplegia, intellectual disability, nystagmus, and obesity (MONDO:MONDO:0015007); ventriculomegaly and arthrogryposis (MONDO:MONDO:0859184)", "pathway": " (hsa:57498); (R-HSA-170984); (R-HSA-9696270); (R-HSA-9696273)", "pathway_count": 4, "publication_count": 105, "publication_id_list": "10.1101/2023.09.13.557529;10664463;10998417;11237011;11784792;11940653;12244061;12842009;14732713;15738000;16284401;16481321;18089783;18220336;18578522;18669648;18996843;19103606;19136556;19413330;19651622;19691289;20068231;20811643;21406692;22645359;23186163;23481700;24275569;24690281;24715725;25502872;25576301;25645385;25888806;26154972;26969432;26992070;27005418;27452731;27600516;27846572;27862975;28063628;28228285;28467828;28832583;28834231;28934391;29242379;29314611;29317506;29393594;29493099;29508533;29557506;29632046;29786170;29789417;30315122;30379171;30429286;31020640;31217245;31844290;31871319;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32909676;32938616;32983136;33205811;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34078123;34171305;34185709;34357683;34433824;34509645;34932366;35051231;35154160;35251023;35437317;35494241;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38148610;9531558", "class_list": "", "function": "Gain-of-Function KIDINS220 Variants Disrupt Neuronal Development and Cause Cerebral Palsy., [RefSeq, PubMed]; Phosphate dysregulation via the XPR1-KIDINS220 protein complex is a therapeutic vulnerability in ovarian cancer., [RefSeq, PubMed]; Promotes a prolonged MAP-kinase signaling by neurotrophins through activation of a Rap1-dependent mechanism. Provides a docking site for the CRKL-C3G complex, resulting in Rap1-dependent sustained ERK activation. May play an important role in regulating postsynaptic signal transduction through the syntrophin-mediated localization of receptor tyrosine kinases such as EPHA4. In cooperation with SNTA1 can enhance EPHA4-induced JAK/STAT activation. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth. May play a role in neurotrophin- and ephrin-mediated neuronal outgrowth and in axon guidance during neural development and in neuronal regeneration (By similarity). Modulates stress-induced apoptosis of melanoma cells via regulation of the MEK/ERK signaling pathway., [UniProtKB, PubMed]; This gene encodes a transmembrane protein that is preferentially expressed in the nervous system where it controls neuronal cell survival, differentiation into exons and dendrites, and synaptic plasticity. The encoded protein interacts with membrane receptors, cytosolic signaling components, and cytoskeletal proteins, serving as a scaffold that mediates crosstalk between the neurotrophin pathway and several other intracellular signaling pathways. Aberrant expression of this gene is associated with the onset of various neuropsychiatric disorders and neurodegenerative diseases, including Alzheimer's disease. Naturally occurring mutations in this gene are associated with a syndrome characterized by spastic paraplegia, intellectual disability, nystagmus and obesity. Alternative splicing results in multiple transcript variants. [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": 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": 29, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 59, "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": "A1L4N4;Q4VC08;Q6MZU2;Q9H889;Q9H9E4;Q9NT37;Q9UF42", "ec_number_list": "", "go_molecular_function": "GO:0030165 PDZ domain binding;GO:0019887 protein kinase regulator activity", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0045202 synapse;GO:0005770 late endosome;GO:0032991 protein-containing complex", "go_biological_process": "GO:0007399 nervous system development;GO:0010976 positive regulation of neuron projection development;GO:1990090 cellular response to nerve growth factor stimulus;GO:0038180 nerve growth factor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q9ULH0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13241-1", "uniprot_id": "KLRD1_HUMAN", "mass": 20513.0, "length": 179, "protein_name": "Natural killer cells antigen CD94", "gene_name": "KLRD1", "organism": "Human", "refseq_name": "natural killer cells antigen CD94 isoform 2", "refseq_ac": "NP_031360", "gene_names_uniprotkb": "KLRD1; CD94", "gene_names_refseq": "CD94; KLRD1", "protein_names_uniprotkb": "Natural killer cells antigen CD94; KP43; Killer cell lectin-like receptor subfamily D member 1; NK cell receptor", "protein_names_refseq": "CD94 antigen; KP43; NK cell receptor; killer cell lectin-like receptor subfamily D, member 1; natural killer cells antigen CD94 isoform 2; natural killer cells antigen CD94", "tax_id": 9606, "disease": "", "pathway": " (hsa:3824); (R-HSA-198933); (R-HSA-2172127); (R-HSA-2424491)", "pathway_count": 4, "publication_count": 182, "publication_id_list": "10021361;10023772;10026222;10049942;10072481;10224278;10428963;10449773;10499918;10604985;10669413;10744696;10746781;10811803;10940905;11048639;11094073;11237011;11265639;11368773;11390650;11489943;11513152;11556966;11602640;11807247;11857637;11858820;11861603;11907067;11955593;11955595;11955599;12165520;12213321;12387742;12471105;12483297;12588680;12660731;12668644;12776204;12911816;14707061;14719373;14970179;15034010;15136729;15155468;15184383;15187158;15265913;15304001;15365099;15489334;15534202;15536084;15541655;15557162;15580655;15607800;15751767;15778510;15781451;15800062;15851719;15864273;15884055;15940674;16014749;16091383;16129954;16339513;16380601;16541075;16551255;16623599;16737824;16754721;16893496;16904340;16920917;16928187;16933987;16938345;17012248;17045824;17057721;17110943;17202323;17237375;17337780;17483134;17641029;18031695;18037897;18055229;18064301;18083576;18209062;18234675;18332182;18448674;18593354;18624290;18629938;18691974;19149696;19359216;19592130;19592646;19858347;20093094;20484116;20730098;20865034;20890284;20952657;21241660;21659545;21800138;21825173;21841309;21877119;22396535;23335510;23695528;2374928;23929856;24305946;25703557;25716998;26284469;26300885;28832583;29242379;29493099;29557506;29632711;30134159;30503213;30860984;31154438;32569519;32575403;32859121;32983136;33887202;33990003;34271875;35051231;35580925;35924575;37264229;7531291;7542404;7589107;8046333;8178173;8663278;8702662;8769479;8943374;8986718;8995416;9034158;9285412;9314561;9396765;9430220;9472066;9485206;9486650;9490415;9601951;9625766;9655483;9690470;9700512;9730896;9754572;9830044", "class_list": "glycogene", "function": "(Microbial infection) May recognize HLA-E in complex with HIV-1 gag/Capsid protein p24-derived peptide (AISPRTLNA) on infected cells and may inhibit NK cell cytotoxicity, a mechanism that allows HIV-1 to escape immune recognition., [UniProtKB, PubMed]; (Microbial infection) Upon SARS-CoV-2 infection, may contribute to functional exhaustion of cytotoxic NK cells and CD8-positive T cells (PubMed:32859121). On NK cells, may recognize HLA-E in complex with SARS-CoV-2 S/Spike protein S1-derived peptide (LQPRTFLL) expressed on the surface of lung epithelial cells, inducing NK cell exhaustion and dampening antiviral immune surveillance (PubMed:32859121)., [UniProtKB, PubMed]; (Microbial infection) Viruses like human cytomegalovirus have evolved an escape mechanism whereby virus-induced down-regulation of host MHC class I molecules is coupled to the binding of viral peptides to HLA-E, restoring HLA-E expression and inducing HLA-E-dependent NK cell immune tolerance to infected cells. Recognizes HLA-E in complex with human cytomegalovirus UL40-derived peptide (VMAPRTLIL) and inhibits NK cell cytotoxicity., [UniProtKB, PubMed, PubMed]; CD94 expression patterns in reactive and neoplastic T-cell and NK-cell proliferations., [RefSeq, PubMed]; Early expression of CD94 and loss of CD96 on CD8+ T cells after allogeneic stem cell tranplantation is predictive of subsequent relapse and survival. Publication Status: Online-Only, [RefSeq, PubMed]; Immune receptor involved in self-nonself discrimination. In complex with KLRC1 or KLRC2 on cytotoxic and regulatory lymphocyte subsets, recognizes non-classical major histocompatibility (MHC) class Ib molecule HLA-E loaded with self-peptides derived from the signal sequence of classical MHC class Ia and non-classical MHC class Ib molecules (PubMed:10023772, PubMed:18064301, PubMed:18083576, PubMed:37264229, PubMed:9486650, PubMed:9754572). Enables cytotoxic cells to monitor the expression of MHC class I molecules in healthy cells and to tolerate self (PubMed:12387742, PubMed:18064301, PubMed:9430220). Primarily functions as a ligand binding subunit as it lacks the capacity to signal., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; KLRD1, FOSL2 and LILRB3 as potential biomarkers for plaques progression in acute myocardial infarction and stable coronary artery disease. Publication Status: Online-Only, [RefSeq, PubMed]; KLRD1-KLRC1 acts as an immune inhibitory receptor. Key inhibitory receptor on natural killer (NK) cells that regulates their activation and effector functions (PubMed:30860984, PubMed:9430220, PubMed:9485206, PubMed:9486650). Dominantly counteracts T cell receptor signaling on a subset of memory/effector CD8-positive T cells as part of an antigen-driven response to avoid autoimmunity (PubMed:12387742). On intraepithelial CD8-positive gamma-delta regulatory T cells triggers TGFB1 secretion, which in turn limits the cytotoxic programming of intraepithelial CD8-positive alpha-beta T cells, distinguishing harmless from pathogenic antigens (PubMed:18064301). In HLA-E-rich tumor microenvironment, acts as an immune inhibitory checkpoint and may contribute to progressive loss of effector functions of NK cells and tumor-specific T cells, a state known as cell exhaustion (PubMed:30503213, PubMed:30860984). Upon HLA-E-peptide binding, transmits intracellular signals through KLRC1 immunoreceptor tyrosine-based inhibition motifs (ITIMs) by recruiting INPP5D/SHIP-1 and INPPL1/SHIP-2 tyrosine phosphatases to ITIMs, and ultimately opposing signals transmitted by activating receptors through dephosphorylation of proximal signaling molecules (PubMed:12165520, PubMed:9485206)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; KLRD1-KLRC2 acts as an immune activating receptor (PubMed:15940674, PubMed:9655483). On cytotoxic lymphocyte subsets recognizes HLA-E loaded with signal sequence-derived peptides from non-classical MHC class Ib HLA-G molecules, likely playing a role in the generation and effector functions of adaptive NK cells and in maternal-fetal tolerance during pregnancy (PubMed:30134159, PubMed:9754572). Regulates the effector functions of terminally differentiated cytotoxic lymphocyte subsets, and in particular may play a role in adaptive NK cell response to viral infection (PubMed:20952657, PubMed:21825173). Upon HLA-E-peptide binding, transmits intracellular signals via the adapter protein TYROBP/DAP12, triggering the phosphorylation of proximal signaling molecules and cell activation (PubMed:15940674, PubMed:9655483)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Natural killer (NK) cells are a distinct lineage of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes of the C-type lectin superfamily, including members of the NKG2 family, are expressed by NK cells and may be involved in the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells and is classified as a type II membrane protein because it has an external C terminus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]., [RefSeq]; The CD94/NKG2A inhibitory receptor educates uterine NK cells to optimize pregnancy outcomes in humans and mice., [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": 11, "reported_glycation": 0, "reported_snv": 225, "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": "O43321;O43773;Q9UBE3;Q9UEQ0", "ec_number_list": "", "go_molecular_function": "GO:0023024 MHC class I protein complex binding;GO:0004888 transmembrane signaling receptor activity;GO:0030246 carbohydrate binding;GO:1990405 protein antigen binding;GO:0030108 HLA-A specific activating MHC class I receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043235 receptor complex;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0002228 natural killer cell mediated immunity;GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response;GO:0045953 negative regulation of natural killer cell mediated cytotoxicity;GO:0045954 positive regulation of natural killer cell mediated cytotoxicity", "synthesized_glycan_count": 0, "hit_score": 18.3, "record_id": "Q13241-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P00568-1", "uniprot_id": "KAD1_HUMAN", "mass": 21635.0, "length": 194, "protein_name": "Adenylate kinase isoenzyme 1", "gene_name": "AK1", "organism": "Human", "refseq_name": "adenylate kinase isoenzyme 1 isoform 1", "refseq_ac": "NP_000467", "gene_names_uniprotkb": "AK1", "gene_names_refseq": "ADK; AK1; Adk1; CNSHA3; HTL-S-58j", "protein_names_uniprotkb": "Adenylate kinase isoenzyme 1; 2.7.4.3; 2.7.4.4; 2.7.4.6; AK 1; ATP-AMP transphosphorylase 1; ATP:AMP phosphotransferase; Adenylate monophosphate kinase; Myokinase", "protein_names_refseq": "ATP-AMP transphosphorylase 1; ATP:AMP phosphotransferase; adenylate kinase isoenzyme 1 isoform 1; adenylate kinase isoenzyme 1; adenylate monophosphate kinase; epididymis secretory sperm binding protein; myokinase; testis secretory sperm binding protein Li 58j", "tax_id": 9606, "disease": "congenital nonspherocytic hemolytic anemia 3 (Disease Ontology:DOID:0051004); congenital nonspherocytic hemolytic anemia (Disease Ontology:DOID:2861); middle cerebral artery infarction (Disease Ontology:DOID:3525); hemolytic anemia (Disease Ontology:DOID:583); myocardial infarction (Disease Ontology:DOID:5844); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:203); (R-HSA-499943)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10215863;10453732;10618642;10716435;10799505;10884394;10899599;11237011;11277919;11278511;11517226;11796141;11912132;12649162;12972261;13211603;14729598;15630091;16179339;16373698;16756507;16820675;17320107;177353;17824959;183954;18469;1851158;18635542;18997010;19176520;19220460;19766732;20068231;21080915;211388;211390;22847445;23186163;23416111;24275569;2542324;25576301;2656695;2668278;29557506;30918013;31409384;31444368;31844290;32157095;32251557;32387766;32519744;34019948;35051231;40615;40930100;5484814;6182143;6248551;7685356;7851394;8448179;8663313;9432020;9488696;9677297", "class_list": "", "function": "A co-expressed gene status of adenylate kinase 1/4 reveals prognostic gene signature associated with prognosis and sensitivity to EGFR targeted therapy in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Case Reports: first case of adenylate kinase deficiency in Indian population due to novel AK1 mutations (c.71A>G and c.413G>A) associated with nonspherocytic haemolytic anaemia without psychomotor impairment., [RefSeq, PubMed]; Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Also catalyzes at a very low rate the synthesis of thiamine triphosphate (ThTP) from thiamine diphosphate (ThDP) and ADP., [UniProtKB, UniProtKB, UniProtKB, HAMAP, PubMed, PubMed, UniProtKB, PubMed]; High expression of AK1 predicts inferior prognosis in acute myeloid leukemia patients undergoing chemotherapy., [RefSeq, PubMed]; Specific DNA methylation signatures for aggressive choroid plexus carcinoma (CPC) revealed AK1, PER2, and PLSCR4 as potential biomarkers for CPC that can be used to improve molecular stratification for diagnosis and treatment. Erratum:[Clin Epigenetics. 2019 Oct 21;11(1):144. doi: 10.1186/s13148-019-0737-7. PMID: 31639040] Publication Status: Online-Only, [RefSeq, PubMed]; The mRNA and protein expressions of AK1, AK6 and AK7 are significantly down-regulated in the sperm of asthenospermia patients, which may be closely related with reduced sperm motility., [RefSeq, PubMed]; This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BVK9;Q9UQC7", "ec_number_list": "2.7.4.10;2.7.4.6;2.7.4.3;2.7.4.4;3.1.11.-;2.7.11.1;2.7.13.3;2.7.4.18;3.1.24.-;2.7.4.14", "go_molecular_function": "GO:0004017 AMP kinase activity;GO:0005524 ATP binding;GO:0004550 nucleoside diphosphate kinase activity;GO:0047506 dAMP kinase activity;GO:0019205 nucleobase-containing compound kinase activity", "go_cellular_component": "GO:0001520 outer dense fiber;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0015949 nucleobase-containing small molecule interconversion;GO:0006172 ADP biosynthetic process;GO:0046033 AMP metabolic process;GO:0046034 ATP metabolic process;GO:0009142 nucleoside triphosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "P00568-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UVM3-1", "uniprot_id": "KCNT2_HUMAN", "mass": 130501.0, "length": 1135, "protein_name": "Potassium channel subfamily T member 2", "gene_name": "KCNT2", "organism": "Human", "refseq_name": "potassium channel subfamily T member 2 isoform 2", "refseq_ac": "NP_001274748", "gene_names_uniprotkb": "KCNT2; SLICK; Slo2.1", "gene_names_refseq": "DEE57; EIEE57; KCNT2; KCa4.2; KNa1.2; SLICK; SLO2.1", "protein_names_uniprotkb": "Potassium channel subfamily T member 2; KNa1.2; Sequence like an intermediate conductance potassium channel subunit; Sodium and chloride-activated ATP-sensitive potassium channel Slo2.1", "protein_names_refseq": "potassium channel subfamily T member 2 isoform 2; potassium channel, subfamily T, member 2; sequence like an intermediate conductance potassium channel subunit; sodium and chloride-activated ATP-sensitive potassium channel Slo2.1; sodium-and chloride-activated ATP-sensitive potassium channel (SLICK)", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 57 (Disease Ontology:DOID:0080284); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:343450)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;14684870;16687497;16959974;19562805;24166878;25214519;25347289;27682982;29069600;29740868;31844290;32265295;32796851;32931186;33912179;34061450;35051231;35580925;36241641;37062836", "class_list": "", "function": "An inducible circular RNA circKcnt2 inhibits ILC3 activation to facilitate colitis resolution. Publication Status: Online-Only, [RefSeq, PubMed]; Cloning and regulation of slick channel activity., [RefSeq, PubMed]; KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties., [RefSeq, PubMed]; New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review. Review article, [RefSeq, PubMed]; Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype., [RefSeq, PubMed]; Slick channels, in contrast to the similar Slack channels, are the only high-conductance K+ channels strongly sensitive to small changes in cell volume. Publication Status: Online-Only, [RefSeq, PubMed]; Sodium-activated and chloride-activated potassium channel (PubMed:14684870, PubMed:16687497, PubMed:25214519, PubMed:27682982, PubMed:29069600, PubMed:29740868). Produces rapidly activating outward rectifier K(+) currents (PubMed:14684870). Contributes to regulate neuronal excitability (PubMed:29069600)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Together these findings suggest that (1) the selectivity filter and not the bundle crossing gates ion permeation and (2) dynamic coupling between the pore helix and the S5 and S6 segments mediates Slo2.1 channel activation., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 55, "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": "Q3SY59;Q5VTN1;Q6ZMT3", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0015271 outward rectifier potassium channel activity;GO:0005228 intracellular sodium-activated potassium channel activity;GO:0070089 chloride-activated potassium channel activity;GO:0005267 potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0071805 potassium ion transmembrane transport;GO:0097623 potassium ion export across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q6UVM3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6YP21-1", "uniprot_id": "KAT3_HUMAN", "mass": 51400.0, "length": 454, "protein_name": "Kynurenine--oxoglutarate transaminase 3", "gene_name": "KYAT3", "organism": "Human", "refseq_name": "kynurenine--oxoglutarate transaminase 3 isoform 1", "refseq_ac": "NP_001008661", "gene_names_uniprotkb": "KYAT3; CCBL2; KAT3", "gene_names_refseq": "CCBL2; KAT3; KATIII; KYAT3", "protein_names_uniprotkb": "Kynurenine--oxoglutarate transaminase 3; 2.6.1.63; 2.6.1.7; 4.4.1.13; Cysteine-S-conjugate beta-lyase 2; KATIII; Kynurenine aminotransferase 3; Kynurenine aminotransferase III; Kynurenine--glyoxylate transaminase; Kynurenine--oxoglutarate transaminase III", "protein_names_refseq": "cysteine-S-conjugate beta-lyase 2; kynurenine aminotransferase III; kynurenine--glyoxylate transaminase; kynurenine--oxoglutarate transaminase 3 isoform 1; kynurenine--oxoglutarate transaminase 3; kynurenine--oxoglutarate transaminase III", "tax_id": 9606, "disease": "", "pathway": " (hsa:56267); (R-HSA-71240)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10049700;10391915;10672018;11237011;12007602;12140278;13069505;15364907;15880762;16376499;16477023;17671174;18056995;18262359;18620547;19338303;19608861;21097500;21492941;23478338;25231977;25576301;25645385;26992070;27090790;27600516;27846572;27920218;28218747;28228285;28510447;28514659;28706436;28832583;28904123;29242379;29314611;29437277;29493099;29557506;29786170;30315122;30573663;30779550;31222486;31844290;32157095;32357974;32488085;33298915;33392160;33912179;33968037;34087483;34171305;34357683;35154160;35318648;35580925;35771747;36010968;36241641;36284347;38665916;7514594;7883047;8294935;8666386;9180257", "class_list": "", "function": "Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA), an intermediate in the tryptophan catabolic pathway which is also a broad spectrum antagonist of the three ionotropic excitatory amino acid receptors among others. May catalyze the beta-elimination of S-conjugates and Se-conjugates of L-(seleno)cysteine, resulting in the cleavage of the C-S or C-Se bond. Has transaminase activity towards L-kynurenine, tryptophan, phenylalanine, serine, cysteine, methionine, histidine, glutamine and asparagine with glyoxylate as an amino group acceptor (in vitro). Has lower activity with 2-oxoglutarate as amino group acceptor (in vitro)., [UniProtKB, UniProtKB]; Cysteine conjugate beta-lyase 2 (CCBL2) expression as a prognostic marker of survival in breast cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; Human KAT III/CCBL2 possesses cysteine S-conjugate beta-lyase activity, as does mouse KAT II, [RefSeq, PubMed]; Immunohistochemical analysis revealed the presence of KAT I, II, and III in all examined corneal sections. Publication Status: Online-Only, [RefSeq, PubMed]; The haplotype of KAT III gene CGCTCT may have effect on the function of this enzyme in formation of kynurenic acid in some patients with major depressive episodes., [RefSeq, PubMed]; This gene encodes an aminotransferase that transaminates kynurenine to form kynurenic acid, which is a metabolite of tryptophan. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene. This gene shares 5' exon structure with the RNA binding motif protein, X-linked-like 1 locus on chromosome 1, but the coding sequences are non-overlapping. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B3KQ13;O95335;Q5JS27;Q5T9T7;Q5T9T8;Q6AI27;Q6ICW1;Q9BVY5", "ec_number_list": "2.6.1.7;2.6.1.1;2.6.1.64;4.4.1.13;2.6.1.63;2.6.1.39;2.6.1.4;2.6.1.73", "go_molecular_function": "GO:0047315 kynurenine-glyoxylate transaminase activity;GO:0003723 RNA binding;GO:0016212 kynurenine-oxoglutarate transaminase activity;GO:0030170 pyridoxal phosphate binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0097053 L-kynurenine catabolic process;GO:0006103 2-oxoglutarate metabolic process;GO:0070189 kynurenine metabolic process;GO:0006520 amino acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q6YP21-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N743-1", "uniprot_id": "KI3L3_HUMAN", "mass": 44928.0, "length": 410, "protein_name": "Killer cell immunoglobulin-like receptor 3DL3", "gene_name": "KIR3DL3", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "KIR3DL3; CD158Z; KIR3DL7; KIRC1", "gene_names_refseq": "", "protein_names_uniprotkb": "Killer cell immunoglobulin-like receptor 3DL3; CD158 antigen-like family member Z; Killer cell inhibitory receptor 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:115653)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;11513144;11960306;16634863;17900289;32983136;9862332", "class_list": "", "function": "Receptor on natural killer cells. May inhibit the activity of NK cells thus preventing cell lysis., [UniProtKB, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 3, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A0A0B4J1R5;A9PL62;A9PL64;A9PL65;A9PL66;A9PL67;A9PL68;A9PZV4;A9PZV7;A9PZV8;A9Q066;A9Q0R5;A9Q242;A9Q250;A9Q251;O95056;Q1X775;Q1X777;Q1X778;Q1X779;Q1X780;Q1X781;Q1X782;Q1X783;Q7Z7N4;Q8NHI2;Q8NHI3;Q9UEI4", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0140375 immune receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0007154 cell communication", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8N743-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NR82-1", "uniprot_id": "KCNQ5_HUMAN", "mass": 102179.0, "length": 932, "protein_name": "Potassium voltage-gated channel subfamily KQT member 5", "gene_name": "KCNQ5", "organism": "Human", "refseq_name": "potassium voltage-gated channel subfamily KQT member 5 isoform 2", "refseq_ac": "NP_001153602", "gene_names_uniprotkb": "KCNQ5", "gene_names_refseq": "KCNQ5; Kv7.5; MRD46", "protein_names_uniprotkb": "Potassium voltage-gated channel subfamily KQT member 5; KQT-like 5; Potassium channel subunit alpha KvLQT5; Voltage-gated potassium channel subunit Kv7.5", "protein_names_refseq": "KQT-like 5; potassium channel protein; potassium channel subunit alpha KvLQT5; potassium channel, voltage gated KQT-like subfamily Q, member 5; potassium voltage-gated channel subfamily KQT member 5 isoform 2; voltage-gated potassium channel subunit Kv7.5", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 46 (Disease Ontology:DOID:0080237); developmental and epileptic encephalopathy 7 (Disease Ontology:DOID:0080462); developmental and epileptic encephalopathy (Disease Ontology:DOID:0112202); heart conduction disease (Disease Ontology:DOID:10273); long QT syndrome (Disease Ontology:DOID:2843)", "pathway": " (hsa:56479); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "10787416;10816588;11159685;11237011;16959974;18452278;20393197;21231794;22424782;23186163;23481700;24714562;24715725;24855057;25418920;25576301;25645385;25892735;26154972;26768311;26992070;27920218;28218747;28228285;28649982;28669405;28832583;28834231;28904123;29242379;29429937;29437277;29557506;29769354;29786170;30061510;30315122;31844290;31871302;32157095;32350084;32357974;32387766;32502341;32825637;32938616;33141586;33298915;33392160;33633747;33717175;33936100;33968037;34087483;34211107;34357683;34509645;35051231;35377796;35561310;35583973;36088682;36241641;36581221;37938771;38253038", "class_list": "", "function": "Distinct functional domains were identified that confer differential sensitivities of Kv7.5 and Kv7.4 to stimulatory and inhibitory signaling., [RefSeq, PubMed]; Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy., [RefSeq, PubMed]; Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability., [RefSeq, PubMed]; Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies., [RefSeq, PubMed]; Pore-forming subunit of the voltage-gated potassium (Kv) channel broadly expressed in brain and involved in the regulation of neuronal excitability (PubMed:10787416, PubMed:10816588, PubMed:11159685, PubMed:28669405). Associates with KCNQ3/Kv7.3 pore-forming subunit to form a potassium channel which contributes to M-type current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons (PubMed:10816588, PubMed:11159685). Contributes, with other potassium channels, to the molecular diversity of a heterogeneous population of M-channels, varying in kinetic and pharmacological properties, which underlie this physiologically important current (PubMed:10816588). Also forms a functional channel with KCNQ1/Kv7.1 subunit that may contribute to vasoconstriction and hypertension (PubMed:24855057). Channel may be selectively permeable in vitro to other cations besides potassium, in decreasing order of affinity K(+) = Rb(+) > Cs(+) > Na(+) (PubMed:10816588). Similar to the native M-channel, KCNQ3-KCNQ5 potassium channel is suppressed by activation of the muscarinic acetylcholine receptor CHRM1 (PubMed:10816588)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Remodeling of Kv7.1 and Kv7.5 Expression in Vascular Tumors. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. 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": 7, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NKT6;A6PVT6;A8MSQ5;B4DS33;B5MC83;B7ZL37;F5GZV0;Q17RE1;Q5VVP3;Q86W40;Q9NRN0;Q9NYA6", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0030118 clathrin coat;GO:0005886 plasma membrane;GO:0008076 voltage-gated potassium channel complex;GO:0016020 membrane;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q9NR82-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NFH5-1", "uniprot_id": "NUP35_HUMAN", "mass": 34774.0, "length": 326, "protein_name": "Nucleoporin NUP35", "gene_name": "NUP35", "organism": "Human", "refseq_name": "nucleoporin NUP35 isoform b", "refseq_ac": "NP_001274513", "gene_names_uniprotkb": "NUP35; MP44; NUP53", "gene_names_refseq": "MP-44; MP44; NP44; NUP35; NUP53", "protein_names_uniprotkb": "Nucleoporin NUP35; 35 kDa nucleoporin; MP-44; Mitotic phosphoprotein 44; Nuclear pore complex protein Nup53; Nucleoporin NUP53", "protein_names_refseq": "mitotic phosphoprotein 44; nuclear pore complex protein Nup53; nucleoporin 35kDa; nucleoporin NUP35 isoform b; nucleoporin NUP53", "tax_id": 9606, "disease": "intestinal pseudo-obstruction (Disease Ontology:DOID:0080072)", "pathway": " (hsa:129401); (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": 463, "publication_id_list": "10.1101/2023.09.13.557529;10205180;10228171;10323864;10444065;10489353;10526235;10531003;10556282;10574707;10601273;10601333;10668806;10725331;10759568;10827188;10846107;10851237;10862613;10911995;10920397;10954706;11014198;11073998;11095724;11112487;11118210;11124902;11157743;11231159;11231581;11237011;11256625;11259411;11259602;11289803;11333016;11451485;11455963;11502751;11514627;11579093;11709553;11714716;11727826;11739738;11747420;11748230;11756420;11788588;11792325;11836381;11871657;11889051;11909533;11932251;11960997;12003494;12019269;12027805;12032081;12065586;12072510;12093754;12095920;12121577;12138183;12149243;12196509;12228227;12393906;12441251;12525615;12526808;12582176;12589057;12692549;12711671;12729736;12747803;12759408;12776181;12802065;12832072;12853476;12857923;12917326;12974469;14516784;14578449;14627435;14701874;15082759;15109492;15120988;15131269;15161980;15175327;15199155;15208624;1531330;15317868;15355988;15364926;15378033;15485925;15574331;15592428;15608651;15702989;15703211;15731250;15802566;15823533;15829507;15831457;1586970;15931174;15940266;15959518;15989970;16009940;16030353;16112642;16122702;16139798;16140760;16194093;16278218;16314397;16352599;16361254;16407192;16428300;16478998;16600873;16608850;16608852;16626738;16688858;16699525;16710424;16715065;16775314;16810316;16815975;16872604;16914094;16933365;16964243;17000901;17018294;17081640;17081983;17098863;17132145;17183683;17204286;17224653;17235358;17289916;17317185;17322306;17376915;17412958;1754405;17690096;17693435;17698605;17705785;18203656;18220336;18226598;18235501;18235502;18256286;18287095;18305167;18316408;18364396;18381449;18394993;18408014;18411249;18423201;18535146;18550409;18583345;18625722;18628979;18669648;18691969;18708356;18767875;18809514;18946085;18984158;19007248;19073728;19125153;19229036;19270716;19287951;19413330;1944575;19494120;19596686;19622798;19640981;19651622;19664995;19682613;19690332;19691289;19706679;19779455;1985200;19914676;19956565;20016594;20016603;20068231;20098713;20129943;20133869;2017161;2017166;20190268;20219937;20300531;20308324;20351170;20385878;20417598;20630994;20663916;20705237;20797632;20797634;20953181;20972456;20974814;21098080;21147198;21167178;21284855;21311021;21335236;21406692;21450806;21550342;21554500;21559454;21593607;21647297;21690215;22121020;22174689;22402492;22457066;22464730;22465953;22493095;22508508;22541429;22635276;22661230;22732409;22735644;22751501;22825850;22893130;22940245;22941947;22944664;23092970;23186163;23299939;23301498;23349863;23582887;23750026;23804756;23826332;23871147;24002598;24027577;24068740;24275569;24369422;2470644;24714562;24715725;24782567;24870230;25114211;25218447;25391492;25576301;25602437;25640237;25645385;25704882;25723178;25810538;25849199;26572645;26811146;26992070;27068747;27501258;27846572;27862975;28218747;28228285;28415052;28446606;28510447;28657654;28832583;28834231;29237092;29242379;29331515;29393594;29437277;29485866;29557506;29632046;29786170;30059200;30192525;30315122;30355688;30360396;30410026;30429286;30620550;30761409;31092671;31217245;31492838;31844290;31850239;32157095;32353859;32387766;32428392;32488085;32589897;32726803;32728199;32897882;32938616;32938750;32953130;32979938;33024073;33060197;33097660;33110251;33214551;33298915;33349665;33360543;33372174;33372854;33396605;33440148;33479219;33495715;33514628;33567255;33691108;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33968037;33981976;33989516;33990585;34019948;34021074;34054808;34084167;34110168;34166398;34171305;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34509645;34561969;34597346;35051231;35102342;35254053;35289036;35580925;35643212;35705054;36241641;36284347;37051252;38665916;39302247;39531497;40136647;40307207;40596516;41350704;6261960;6930639;7559393;7585962;7759547;7769657;7828588;7878053;7958838;8113738;8196654;8313914;8721986;8805303;8946918;9019411;9092824;9305631;9405152;9412458;9436978;9452416;9497385;9512417;9525617;9582382;9618489;9651582;9660920;9660949;9755184;9756909;9837918;9845364;9873016;9885291;9920933", "class_list": "", "function": "Defined regions of Nup53 that bind to neighboring nucleoporins as well as those domains that target Nup53 to the nuclear pore complex., [RefSeq, PubMed]; Functions as a component of the nuclear pore complex (NPC). NPC components, collectively referred to as nucleoporins (NUPs), can play the role of both NPC structural components and of docking or interaction partners for transiently associated nuclear transport factors. May play a role in the association of MAD1 with the NPC., [UniProtKB, PubMed]; This gene encodes a member of the nucleoporin family. The encoded protein contains two membrane binding regions, is localized to the nuclear rim, and is part of the nuclear pore complex. All molecules entering or leaving the nucleus either diffuse through or are actively transported by the nuclear pore complex. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 7 and 10. [provided by RefSeq, Dec 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": 1, "reported_o_glycosites_with_glycan": 13, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 13, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 13, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 31, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "B4DP57;B4DYB4;Q4ZFZ9;Q53S95;Q8TDJ1", "ec_number_list": "", "go_molecular_function": "GO:0005543 phospholipid binding;GO:0042802 identical protein binding;GO:0003676 nucleic acid binding;GO:0017056 structural constituent of nuclear pore", "go_cellular_component": "GO:0044615 nuclear pore nuclear basket;GO:0005635 nuclear envelope;GO:0005829 cytosol;GO:0031965 nuclear membrane;GO:0044613 nuclear pore central transport channel", "go_biological_process": "GO:0006999 nuclear pore organization;GO:0006913 nucleocytoplasmic transport;GO:0051028 mRNA transport;GO:0006607 NLS-bearing protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 48.0, "record_id": "Q8NFH5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14722-1", "uniprot_id": "KCAB1_HUMAN", "mass": 46563.0, "length": 419, "protein_name": "Voltage-gated potassium channel subunit beta-1", "gene_name": "KCNAB1", "organism": "Human", "refseq_name": "voltage-gated potassium channel subunit beta-1 isoform 5", "refseq_ac": "NP_001295151", "gene_names_uniprotkb": "KCNAB1; KCNA1B", "gene_names_refseq": "AKR6A3; KCNA1B; KCNAB1; KV-BETA-1; Kvb1.3; hKvBeta3; hKvb3", "protein_names_uniprotkb": "Voltage-gated potassium channel subunit beta-1; 1.1.1.-; K(+) channel subunit beta-1; Kv-beta-1", "protein_names_refseq": "K(+) channel subunit beta-1; K+ channel Beta1a chain; potassium channel beta 3 chain; potassium channel beta3 subunit; potassium channel shaker chain beta 1a; potassium channel, voltage gated subfamily A regulatory beta subunit 1; potassium voltage-gated channel subfamily A member regulatory beta subunit 1; potassium voltage-gated channel, shaker-related subfamily, beta member 1; voltage-gated potassium channel subunit beta-1 isoform 5", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); temporal lobe epilepsy (Disease Ontology:DOID:3328)", "pathway": " (hsa:7881); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10318802;11237011;12077175;12130714;15361858;17156368;17540341;19713757;20393197;21231794;21850230;24715725;27600516;27920218;28063628;28904123;29242379;29393594;29493099;29557506;29632046;31154438;31844290;31848261;32938616;33141586;33168717;33572906;34616010;35494241;36010968;37938771;7499366;7603988;7649300;7890032;7890764;8938711;9763623", "class_list": "", "function": "Bevacizumab-induced hypertension and proteinuria: a genome-wide study of more than 1000 patients. Erratum:[Br J Cancer. 2022 Jan;126(1):162. doi: 10.1038/s41416-021-01617-1. PMID: 34853435], [RefSeq, PubMed]; Isoform KvB1.2 shows no effect on KCNA1, KCNA2 or KCNB1., [UniProtKB, PubMed, PubMed]; KV1.5-KVbeta1.3 Recycling Is PKC-Dependent. Publication Status: Online-Only, [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 includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq, Apr 2015]., [RefSeq]; Regulatory subunit of the voltage-gated potassium (Kv) Shaker channels composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits (PubMed:17156368, PubMed:17540341, PubMed:19713757, PubMed:7499366, PubMed:7603988). The beta-1/KCNAB1 cytoplasmic subunit mediates closure of delayed rectifier potassium channels by physically obstructing the pore via its N-terminal domain and increases the speed of channel closure for other family members (PubMed:9763623). Promotes the inactivation of Kv1.1/KCNA1, Kv1.2/KCNA2, Kv1.4/KCNA4, Kv1.5/KCNA5 and Kv1.6/KCNA6 alpha subunit-containing channels (PubMed:12077175, PubMed:12130714, PubMed:15361858, PubMed:17156368, PubMed:17540341, PubMed:19713757, PubMed:7499366, PubMed:7603988, PubMed:7649300, PubMed:7890764, PubMed:9763623). Displays nicotinamide adenine dinucleotide phosphate (NADPH)-dependent aldoketoreductase activity by catalyzing the NADPH-dependent reduction of a variety of endogenous aldehydes and ketones (By similarity). The binding of NADPH is required for efficient down-regulation of potassium channel activity (PubMed:17540341). Oxidation of the bound NADPH restrains N-terminal domain from blocking the channel, thereby decreasing N-type inactivation of potassium channel activity (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The potassium channel subunit Kvbeta1 serves as a major control point for synaptic facilitation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K9H8;A8KAD4;B3KPZ4;Q13031;Q13302;Q16547;Q6PI60;Q99869", "ec_number_list": "1.1.1.-;1.1.1.184;1.6.5.10;1.1.1.2;1.6.-.-;1.1.1.19;1.1.1.20;1.1.1.372;1.1.1.54;1.1.1.189;1.1.1.197;1.1.1.196;1.1.1.71", "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0015459 potassium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0008106 alcohol dehydrogenase (NADP+) activity;GO:0070402 NADPH binding", "go_cellular_component": "GO:0034705 potassium channel complex;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0008076 voltage-gated potassium channel complex;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:1901379 regulation of potassium ion transmembrane transport;GO:0006813 potassium ion transport;GO:0071805 potassium ion transmembrane transport;GO:0055085 transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q14722-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZA0-1", "uniprot_id": "K319L_HUMAN", "mass": 115658.0, "length": 1049, "protein_name": "Dyslexia-associated protein KIAA0319-like protein", "gene_name": "KIAA0319L", "organism": "Human", "refseq_name": "dyslexia-associated protein KIAA0319-like protein", "refseq_ac": "NP_079150", "gene_names_uniprotkb": "KIAA0319L; AAVR; KIAA1837; PP791", "gene_names_refseq": "AAVRL; AAVR; KIAA0319L", "protein_names_uniprotkb": "Dyslexia-associated protein KIAA0319-like protein; AAVR; Adeno-associated virus receptor", "protein_names_refseq": "AAV receptor like; adeno-associated virus receptor; dyslexia-associated protein KIAA0319-like protein; polycystic kidney disease 1-related", "tax_id": 9606, "disease": "", "pathway": " (hsa:79932)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;15498874;19085271;19159218;19578796;20068231;20697954;23186163;23481700;23584533;23740937;24190977;25502872;25576301;25596907;25813380;26814968;26992070;27600516;27846572;28228285;28467828;28832583;28834231;29204649;29242379;29314611;29393594;29437277;29632711;29786170;30315122;30410026;30459171;30573663;31611695;31844290;32157095;32265295;32350084;33298915;33592498;33633747;33912179;33968037;34078123;34357683;34433824;35051231;35154160;35246248;35251023;35318648;35561310;36215666;37074911;37340703;37441888", "class_list": "", "function": "(Microbial infection) Acts as a receptor for adeno-associated virus and is involved in adeno-associated virus infection through endocytosis system., [UniProtKB, PubMed]; Comprehensive biophysical characterization of AAV-AAVR interaction uncovers serotype- and pH-dependent interaction., [RefSeq, PubMed]; Genetic association study in Han population in China: Data suggest an SNP in PXK [rs2176082(C/T); but not rs6445975(G/T)] is associated with recurrent pregnancy loss; SNPs in KIAA0319L [rs2275247(A/G)] or JAZF1 [rs1635852(C/T)] are not associated., [RefSeq, PubMed]; Identification of diagnostic markers and immune cell infiltration characteristics in antineutrophil cytoplasmic antibody-associated vasculitis by weighted gene co-expression network analysis. Publication Status: Online-Only, [RefSeq, PubMed]; KIAA0319L remains an intriguing positional and functional candidate for RD, especially when considered alongside the supporting evidence for its homolog KIAA0319 on chromosome 6p. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Kiaa0319-like protein interacts with Nogo Receptor 1, supporting the idea that Kiaa0319-like protein participates in axon guidance., [RefSeq, PubMed]; Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Optic nerve damage may change retinal architecture to allow greater penetration of an AAV2 virus to transduce several additional cell types in the inner nuclear layer., [RefSeq, PubMed]; Possible role in axon guidance through interaction with RTN4R., [UniProtKB, PubMed]; Results identify KIAA0319L as novel susceptibility loci for Systemic sclerosis (SSc) and systemic lupus erythematosus (SLE). KIAA0319L was overexpressed in peripheral blood cells of SSc and SLE patients compared with healthy controls., [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": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 17, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 9, "total_reported_o_glycosites": 17, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 17, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 55, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 32, "disease_count": 0, "glyco_site_count": 28, "binding_glycan_count": 0, "secondary_ac_list": "B1AN13;D3DPR8;O95010;Q6PJJ7;Q7L1C9;Q8N2B3;Q8NDA0;Q8WY39;Q8WYZ5;Q96IC3;Q96JJ0;Q9BUW6;Q9H7V0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0032588 trans-Golgi network membrane", "go_biological_process": "GO:0001764 neuron migration", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q8IZA0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P05154-1", "uniprot_id": "IPSP_HUMAN", "mass": 45675.0, "length": 406, "protein_name": "Plasma serine protease inhibitor", "gene_name": "SERPINA5", "organism": "Human", "refseq_name": "plasma serine protease inhibitor preproprotein", "refseq_ac": "NP_000615", "gene_names_uniprotkb": "SERPINA5; PCI; PLANH3; PROCI", "gene_names_refseq": "PAI-3; PAI3; PCI-B; PCI; PLANH3; PROCI; SERPINA5", "protein_names_uniprotkb": "Plasma serine protease inhibitor; Acrosomal serine protease inhibitor; PAI-3; PAI3; PCI; Plasminogen activator inhibitor 3; Protein C inhibitor; Serpin A5", "protein_names_refseq": "acrosomal serine protease inhibitor; plasma serine protease inhibitor preproprotein; plasma serine protease inhibitor; plasminogen activator inhibitor III; plasminogen activator inhibitor-3; protein C inhibitor; serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:5104); (R-HSA-9769733); (R-HSA-9769739); (R-HSA-9769743)", "pathway_count": 4, "publication_count": 143, "publication_id_list": "10.1021/acs.analchem.6b02887;10.1038/emboj.2013.79;10026158;10340997;10391209;11035113;11237011;11238108;11342438;11722589;11833835;12052963;12575940;12907439;1372913;14696115;14760718;14982929;15140131;15328353;15853774;16161994;1618828;16335952;16619025;1714450;1725227;17337440;17506785;17598008;17635713;17706750;18362344;18467335;18974053;1902833;19297154;1930190;20004170;2019570;20427285;2104832;21056543;21078325;2110473;21107324;2172989;2173165;21932952;22144186;22171320;22618708;2271516;22786881;22961984;23021219;23090970;23584533;23683607;2384594;24190977;24554904;24715725;2502206;2505252;2538457;2556811;25713144;25855704;26473492;26791533;27363989;2742826;28035807;28228285;2844223;28489076;2866798;29223926;29391424;29419409;29557506;29632711;29671580;29741879;3017409;30237853;3027058;3082357;30918026;31020640;31262782;3129422;3134349;31439947;31844290;32488085;33141586;33392160;33592498;3501295;35051231;3524673;35580925;36000536;36177795;36951953;37074911;37327267;3733688;3744129;37726033;3863104;40930100;6323392;6334516;6438527;7356959;7499257;7521127;7548057;7727775;7756647;8144529;8148489;8148499;8338946;8471250;8536714;8626656;8639781;8665956;8713781;9218519;9459334;9469622;9473218;9510955;9556620;9607108;9774404;9834200;9888880", "class_list": "", "function": "ANXA2, SP17, SERPINA5, PRDX2 genes, and sperm DNA fragmentation differentially represented in male partners of infertile couples with normal and abnormal sperm parameters., [RefSeq, PubMed]; Heparin-dependent serine protease inhibitor acting in body fluids and secretions. Inactivates serine proteases by binding irreversibly to their serine activation site. Involved in the regulation of intravascular and extravascular proteolytic activities. Plays hemostatic roles in the blood plasma. Acts as a procoagulant and pro-inflammatory factor by inhibiting the anticoagulant activated protein C factor as well as the generation of activated protein C factor by the thrombin/thrombomodulin complex. Acts as an anticoagulant factor by inhibiting blood coagulation factors like prothrombin, factor XI, factor Xa, plasma kallikrein and fibrinolytic enzymes such as tissue- and urinary-type plasminogen activators. In seminal plasma, inactivates several serine proteases implicated in the reproductive system. Inhibits the serpin acrosin; indirectly protects component of the male genital tract from being degraded by excessive released acrosin. Inhibits tissue- and urinary-type plasminogen activator, prostate-specific antigen and kallikrein activities; has a control on the sperm motility and fertilization. Inhibits the activated protein C-catalyzed degradation of SEMG1 and SEMG2; regulates the degradation of semenogelin during the process of transfer of spermatozoa from the male reproductive tract into the female tract. In urine, inhibits urinary-type plasminogen activator and kallikrein activities. Inactivates membrane-anchored serine proteases activities such as MPRSS7 and TMPRSS11E. Inhibits urinary-type plasminogen activator-dependent tumor cell invasion and metastasis. May also play a non-inhibitory role in seminal plasma and urine as a hydrophobic hormone carrier by its binding to retinoic acid., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SERPINA5 promotes tumour cell proliferation by modulating the PI3K/AKT/mTOR signalling pathway in gastric cancer., [RefSeq, PubMed]; The SERPINA5 coding variant E228Q does not contribute to clinicopathologic characteristics in Alzheimer's disease: A cross-sectional study., [RefSeq, PubMed]; The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [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": 3, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "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": 2, "reported_phosphosites": 0, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 63, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q07616;Q9UG30", "ec_number_list": "", "go_molecular_function": "GO:0032190 acrosin binding;GO:0002020 protease binding;GO:0004867 serine-type endopeptidase inhibitor activity;GO:0008201 heparin binding;GO:0031210 phosphatidylcholine binding", "go_cellular_component": "GO:0031094 platelet dense tubular network;GO:0036024 protein C inhibitor-TMPRSS7 complex;GO:0036025 protein C inhibitor-TMPRSS11E complex;GO:0036026 protein C inhibitor-PLAT complex;GO:0036027 protein C inhibitor-PLAU complex", "go_biological_process": "GO:0006869 lipid transport;GO:0007283 spermatogenesis;GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization;GO:0070684 seminal clot liquefaction", "synthesized_glycan_count": 0, "hit_score": 21.8, "record_id": "P05154-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35250-1", "uniprot_id": "RFC2_HUMAN", "mass": 39157.0, "length": 354, "protein_name": "Replication factor C subunit 2", "gene_name": "RFC2", "organism": "Human", "refseq_name": "replication factor C subunit 2 isoform 3", "refseq_ac": "NP_001265720", "gene_names_uniprotkb": "RFC2", "gene_names_refseq": "RFC2; RFC40", "protein_names_uniprotkb": "Replication factor C subunit 2; A1 40 kDa subunit; Activator 1 40 kDa subunit; Activator 1 subunit 2; RF-C 40 kDa subunit; RFC40; Replication factor C 40 kDa subunit", "protein_names_refseq": "A1 40 kDa subunit; RF-C 40 kDa subunit; activator 1 subunit 2; replication factor C (activator 1) 2, 40kDa; replication factor C subunit 2 isoform 3", "tax_id": 9606, "disease": "Williams-Beuren syndrome (Disease Ontology:DOID:1928)", "pathway": " (hsa:5982); (R-HSA-110312); (R-HSA-110314); (R-HSA-110320); (R-HSA-174411); (R-HSA-176187); (R-HSA-5651801); (R-HSA-5655862); (R-HSA-5656121); (R-HSA-5656169); (R-HSA-5685938); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-5696397); (R-HSA-5696400); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6804756); (R-HSA-69091); (R-HSA-69473); (R-HSA-9709570)", "pathway_count": 23, "publication_count": 347, "publication_id_list": "10051570;10212258;10329413;10373362;10373512;10435622;10438626;10460157;10500146;10536157;10551859;10559261;10570149;10570174;10604467;10656791;10656792;10660610;10673500;10673501;10710310;10733923;10744741;10744977;10751307;10760286;10777662;10801132;10827953;10856253;10859164;10884347;10887153;10921897;10959839;10984059;11003705;11006276;11058110;11080452;11139606;11237011;11239457;11250913;11301010;11376695;11390642;11447225;11485998;11511362;11546806;11551930;11571269;11572977;11601988;11687589;11698410;11740489;11751635;11780126;11784855;11832208;11917024;12064478;12139939;12145297;12152085;12191481;12200445;12226092;12226657;12228710;12370410;12379650;12393879;12399544;12444249;12545175;12578958;12584190;12676583;12676925;12702766;12750383;12759351;12766176;12791985;12851404;12914926;12930902;12952891;12963847;1313560;14500360;14517266;14576433;14603323;14605214;14624239;14657033;14702041;14734547;15053879;15066120;15149598;15189136;15189446;15190204;15199127;15226314;15254543;15359272;15475561;15485900;15590680;15655353;15657443;15665856;15703751;15707391;15743907;15833913;15866171;15916957;16139798;16148040;16153896;16246722;16322561;16327781;16337601;16344468;16357261;16360315;16407120;16464020;16530042;16531995;16611994;1671046;16819516;1682322;16885023;17000769;17043239;17108107;17349958;17466625;17466626;17515903;17517887;17575048;17591690;17720710;17928296;17948053;17962301;17965729;18079701;18171670;18242152;18317453;18342608;18480045;18490454;18499658;18539610;18541667;18757400;18805091;18923075;18971343;19054851;19074197;19121998;19153606;19170759;19223468;19279666;19357644;19419957;19492058;19608861;1974050;19940136;19941829;19965871;20008555;20068231;20129063;20154705;20159558;20159559;20164194;20227374;20233725;20660785;20729832;20729858;20729859;20952260;20959462;20965415;21052091;21143968;21240188;21263215;21282463;21317932;21325134;21335604;21565612;21628590;2165567;21659603;21680713;21777809;21791603;21804533;22021381;22024395;22081108;22194698;22223895;22231403;22424782;22635276;22661229;22661230;22681887;22700975;22721435;22772988;22792074;22859295;22859296;22902628;22952233;22977173;23000554;23000965;23042605;23042607;23143872;23149936;23186163;23301498;23345434;23468639;23485397;23593430;23676219;23686288;23731732;23810717;24013206;24038470;24115439;24145406;24275569;24402227;24449906;24485656;24648516;24714562;24715725;24768535;24874608;25113031;25122754;25558984;25576301;25659039;26145171;26154972;26811146;26992070;27846572;28510447;28904123;29437277;29557506;30315122;30833945;31154438;31217245;31530632;31844290;32157095;32161166;32357974;32387766;32488085;32897882;32938616;33298915;33592498;33717175;33912179;33936100;33968037;33978741;34019948;34087483;34171305;34185709;34440403;34932366;35051231;35561310;35580925;35791074;36172813;36241641;36284347;37821801;37938771;38665916;3941892;40914422;7378348;7700386;7713898;8078911;8104944;8196638;8658138;8702565;8751446;8943031;8954124;8999859;9191022;9214649;9278511;9278512;9488738;9649448;9660172;9699634;9705271;9716411;9780000;9822671;9837724;9875289;9925639", "class_list": "", "function": "CircCOL1A2 Sponges MiR-1286 to Promote Cell Invasion and Migration of Gastric Cancer by Elevating Expression of USP10 to Downregulate RFC2 Ubiquitination Level., [RefSeq, PubMed]; RFC2 promotes aerobic glycolysis and progression of colorectal cancer. Publication Status: Online-Only, [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. This subunit binds ATP., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed]; This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). Replication factor C, also called activator 1, is a protein complex consisting of five distinct subunits. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP and may help promote cell survival. Disruption of this gene is associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene of this gene has been defined on chromosome 2. [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": 4, "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": "B5BU07;D3DXG3;P32846;Q9BU93", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031390 Ctf18 RFC-like complex;GO:0005663 DNA replication factor C complex", "go_biological_process": "GO:0000076 DNA replication checkpoint signaling;GO:0006281 DNA repair;GO:0006260 DNA replication;GO:1900264 positive regulation of DNA-directed DNA polymerase activity;GO:0006261 DNA-templated DNA replication", "synthesized_glycan_count": 0, "hit_score": 35.0, "record_id": "P35250-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N6M8-1", "uniprot_id": "IQCF1_HUMAN", "mass": 23699.0, "length": 205, "protein_name": "IQ domain-containing protein F1", "gene_name": "IQCF1", "organism": "Human", "refseq_name": "IQ domain-containing protein F1", "refseq_ac": "NP_689610", "gene_names_uniprotkb": "IQCF1", "gene_names_refseq": "IQCF1", "protein_names_uniprotkb": "IQ domain-containing protein F1", "protein_names_refseq": "IQ domain-containing protein F1", "tax_id": 9606, "disease": "", "pathway": " (hsa:132141)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;25380116;37217939", "class_list": "", "function": "A newly identified acrosomal protein, IQCF1, is closely related to sperm capacitation and AR; in particular, it is involved in tyrosine phosphorylation of sperm proteins through interaction with CaM, [RefSeq, PubMed]; Involved in sperm capacitation and acrosome reaction., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N711", "ec_number_list": "", "go_molecular_function": "GO:0005516 calmodulin binding", "go_cellular_component": "GO:0001669 acrosomal vesicle", "go_biological_process": "GO:2000344 positive regulation of acrosome reaction;GO:0060474 positive regulation of flagellated sperm motility involved in capacitation", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8N6M8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86VZ6-1", "uniprot_id": "JAZF1_HUMAN", "mass": 27079.0, "length": 243, "protein_name": "Juxtaposed with another zinc finger protein 1", "gene_name": "JAZF1", "organism": "Human", "refseq_name": "juxtaposed with another zinc finger protein 1", "refseq_ac": "NP_778231", "gene_names_uniprotkb": "JAZF1; TIP27; ZNF802", "gene_names_refseq": "JAZF1; TIP27; ZNF802", "protein_names_uniprotkb": "Juxtaposed with another zinc finger protein 1; TAK1-interacting protein 27; Zinc finger protein 802", "protein_names_refseq": "TAK1-interacting protein 27; juxtaposed with another zinc finger gene 1; juxtaposed with another zinc finger protein 1; zinc finger protein 802", "tax_id": 9606, "disease": "", "pathway": " (hsa:221895)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11371647;15043312;15302918;16397222;17197920;18772439;20068231;23186163;29786170;31844290;32387766;32488085;32938616;33592498;35051231;35322124;35649353;35846288;36166196;36651297", "class_list": "", "function": "Acts as a transcriptional corepressor of orphan nuclear receptor NR2C2 (PubMed:15302918). Inhibits expression of the gluconeogenesis enzyme PCK2 through inhibition of NR2C2 activity (By similarity). Also involved in transcriptional activation of NAMPT by promoting expression of PPARA and PPARD (By similarity). Plays a role in lipid metabolism by suppressing lipogenesis, increasing lipolysis and decreasing lipid accumulation in adipose tissue (By similarity). Plays a role in glucose homeostasis by improving glucose metabolism and insulin sensitivity (By similarity)., [UniProtKB, PubMed, UniProtKB]; Down-regulation of the transcriptional repressor ZNF802 (JAZF1) reactivates fetal hemoglobin in beta(0)-thalassemia/HbE. Erratum:[Sci Rep. 2022 Apr 13;12(1):6161. doi: 10.1038/s41598-022-10541-0. PMID: 35418591] Publication Status: Online-Only, [RefSeq, PubMed]; Endometrial stromal tumors(ESTs) are genetically heterogeneous, with prevalence of JAZF1-JJAZ1 fusion highest among ESTs of classic histology. Diagnostic utility of JAZF1-JJAZ1 fusion transcript assay in ESTs may be limited to classic histologic subset., [RefSeq, PubMed]; JAZF1-SUZ12 dysregulates PRC2 function and gene expression during cell differentiation., [RefSeq, PubMed]; JAZF1: A Metabolic Regulator of Sensitivity to a Polyamine-Targeted Therapy., [RefSeq, PubMed]; Rs864745 in JAZF1, an Islet Function Associated Variant, Correlates With Plasma Lipid Levels in Both Type 1 and Type 2 Diabetes Status, but Not Healthy Subjects. Publication Status: Online-Only, [RefSeq, PubMed]; TIP27 (TAK1-interacting protein 27; sequence indentical to JAZF1) functions as a repressor of the nuclear orphan receptor TAK1/TR4. Publication Status: Online-Only, [RefSeq, PubMed]; The JAZF1-JJAZ1 fusion is a frequent, although nonuniform, feature of endometrial stromal neoplasia., [RefSeq, PubMed]; This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [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": 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": 4, "reported_glycation": 0, "reported_snv": 7, "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": "A4D195;Q8N3L7", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0017053 transcription repressor complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q86VZ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y287-1", "uniprot_id": "ITM2B_HUMAN", "mass": 30338.0, "length": 266, "protein_name": "Integral membrane protein 2B", "gene_name": "ITM2B", "organism": "Human", "refseq_name": "integral membrane protein 2B", "refseq_ac": "NP_068839", "gene_names_uniprotkb": "ITM2B; BRI2; BRI", "gene_names_refseq": "ABRI; BRI2; BRICD2B; BRI; E25B; E3-16; FBD; ITM2B; RDGCA; imBRI2", "protein_names_uniprotkb": "Integral membrane protein 2B; ABri23; Bri; C-terminal peptide; Immature BRI2; Mature BRI2; P23 peptide; Protein E25B; Transmembrane protein BRI; imBRI2; mBRI2", "protein_names_refseq": "ABri/ADan amyloid peptide; BRICHOS domain containing 2B; epididymis secretory sperm binding protein; immature BRI2; integral membrane protein 2B; transmembrane protein BRI", "tax_id": 9606, "disease": "ITM2B-related cerebral amyloid angiopathy 1 (Disease Ontology:DOID:0070029); ITM2B-related cerebral amyloid angiopathy 2 (Disease Ontology:DOID:0070030); cerebral amyloid angiopathy (Disease Ontology:DOID:9246); retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (MONDO:MONDO:0014483)", "pathway": " (hsa:9445); (R-HSA-977225)", "pathway_count": 2, "publication_count": 140, "publication_id_list": "10.1101/2023.09.13.557529;10097139;10319874;10391242;10411933;10526337;10583407;10781099;10931946;10956649;11237011;11278841;11401442;11467836;11590439;11801660;118839;12454989;1270801;14506261;14567678;14656991;15064394;15962837;15983050;16027166;16091362;16174740;16799559;17425515;17965014;18065497;18070888;1837051;18440095;18449172;18484335;1849145;18524908;18753367;19011241;19114711;19581601;19658395;19748705;19828817;20036644;20676056;20807650;2118650;21752865;2195544;22065755;22131221;22170863;22194595;23090970;23813966;24026677;2409350;24190977;24833601;24893886;25502872;25523424;25892735;26018760;26154972;26417681;26668317;26686862;26807092;26992070;27452731;27846572;279930;28467828;28832583;2900981;29242379;29314611;29493099;29557506;29632711;29741879;29789417;30315122;3035556;30429286;3053705;3080684;3094007;31154438;3142462;31611695;31844290;31848261;32157095;32162841;32350084;32897882;32938616;32983136;33043033;33141586;33392160;33592498;33936100;33968037;34078123;34087483;34185709;34357683;34433824;34446781;35051231;35154160;35251023;35561310;35580925;36010968;36215666;36284347;3675579;36935047;37038821;37074911;37220701;37938771;38289121;8033412;8097946;8114934;8159701;8464497;8490014;8870004;9006323;9054935;9862427", "class_list": "", "function": "A Novel c.800G>C Variant of the ITM2B Gene in Familial Korean Dementia. Erratum:[J Alzheimers Dis. 2025 Dec;108(3):1436. doi: 10.1177/13872877251389359. PMID: 41124368], [RefSeq, PubMed]; Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009]., [RefSeq]; Bri23 peptide prevents aggregation of APP amyloid-beta protein 42 into toxic oligomers., [UniProtKB, UniProtKB, UniProtKB]; First identification of ITM2B interactome in the human retina. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of cytoskeletal proteins as binding partners of Bri2 BRICHOS domain., [RefSeq, PubMed]; Identification of glycolytic proteins as binding partners of Bri2 BRICHOS domain., [RefSeq, PubMed]; Mature BRI2 (mBRI2) functions as a modulator of the amyloid-beta A4 precursor protein (APP) processing leading to a strong reduction in the secretion of secretase-processed amyloid-beta protein 40 and amyloid-beta protein 42., [UniProtKB, UniProtKB, UniProtKB]; MicroRNA-196a-5p facilitates the onset and progression via targeting ITM2B in esophageal squamous cell carcinoma., [RefSeq, PubMed]; Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta peptide aggregation and fibrils deposition. Plays a role in the induction of neurite outgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sites., [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": 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": 3, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 15, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5W0A3;Q96B24;Q9NYH1", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0007399 nervous system development;GO:0042985 negative regulation of amyloid precursor protein biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 15.7, "record_id": "Q9Y287-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6H6-1", "uniprot_id": "KCNE3_HUMAN", "mass": 11710.0, "length": 103, "protein_name": "Potassium voltage-gated channel subfamily E member 3", "gene_name": "KCNE3", "organism": "Human", "refseq_name": "potassium voltage-gated channel subfamily E member 3", "refseq_ac": "NP_005463", "gene_names_uniprotkb": "KCNE3", "gene_names_refseq": "BRGDA6; HOKPP; HYPP; KCNE3; MiRP2", "protein_names_uniprotkb": "Potassium voltage-gated channel subfamily E member 3; MiRP2; MinK-related peptide 2; Minimum potassium ion channel-related peptide 2; Potassium channel subunit beta MiRP2", "protein_names_refseq": "cardiac voltage-gated potassium channel accessory subunit; minK-related peptide 2; minimum potassium ion channel-related peptide 2; potassium channel subunit beta MiRP2; potassium channel, voltage gated subfamily E regulatory beta subunit 3; potassium voltage-gated channel subfamily E member 3; potassium voltage-gated channel, Isk-related family, member 3; voltage-gated K+ channel subunit MIRP2", "tax_id": 9606, "disease": "Brugada syndrome 6 (Disease Ontology:DOID:0110223); hypokalemic periodic paralysis (Disease Ontology:DOID:14452)", "pathway": " (hsa:10008); (R-HSA-5576890); (R-HSA-5576893)", "pathway_count": 3, "publication_count": 29, "publication_id_list": "10219239;10646604;11104781;11207363;11237011;11874988;12414843;12954870;14504341;15037716;15266014;16939434;16949586;18093912;19122847;19306396;20533308;24591645;25966690;26890422;27147833;27162025;27626070;27922120;31883792;32983136;35716725;7586312;9230439", "class_list": "", "function": "Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits. KCNE3 beta subunit modulates the gating kinetics and enhances stability of the channel complex (PubMed:10646604, PubMed:11207363, PubMed:12954870). Alters the gating of the delayed rectifier Kv channel containing KCNB1 alpha subunit (PubMed:12954870). Associates with KCNC4/Kv3.4 alpha subunit to form the subthreshold Kv channel in skeletal muscle and to establish the resting membrane potential (RMP) in muscle cells (PubMed:11207363). Association with KCNQ1/KCLQT1 alpha subunit may form the intestinal cAMP-stimulated potassium channel involved in chloride secretion that produces a current with nearly instantaneous activation with a linear current-voltage relationship (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Based on current evidence from published studies, neither of the two variants from KCNE was significantly associated with the risk of Meniere's disease--{REVIEW}, [RefSeq, PubMed]; Comparing the structural dynamics of the human KCNE3 in reconstituted micelle and lipid bilayered vesicle environments., [RefSeq, PubMed]; Regulation of human cardiac potassium channels by full-length KCNE3 and KCNE4 has been reported. Publication Status: Online-Only, [RefSeq, PubMed]; Reported here are previously undiscovered protein-coding regions in exon 1 of hKCNE3 and hKCNE4 that extend their encoded extracellular domains by 44 and 51 residues, which yields full-length proteins of 147 and 221 residues, respectively., [RefSeq, PubMed]; Structural, computational, biochemical, and electrophysiological studies lead to an atomically explicit integrative structural model of the KCNE3-KCNQ1 complex that explains how KCNE3 induces the constitutive activation of KCNQ1 channel activity, a crucial component in K(+) recycling. Publication Status: Online-Only, [RefSeq, PubMed]; Voltage-gated potassium (Kv) 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. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0015459 potassium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0043204 perikaryon;GO:0045121 membrane raft", "go_biological_process": "GO:0086011 membrane repolarization during action potential;GO:0098915 membrane repolarization during ventricular cardiac muscle cell action potential;GO:1903765 negative regulation of potassium ion export across plasma membrane;GO:1905025 negative regulation of membrane repolarization during ventricular cardiac muscle cell action potential;GO:0030644 intracellular chloride ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9Y6H6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q03426-1", "uniprot_id": "KIME_HUMAN", "mass": 42451.0, "length": 396, "protein_name": "Mevalonate kinase", "gene_name": "MVK", "organism": "Human", "refseq_name": "mevalonate kinase isoform a", "refseq_ac": "NP_000422", "gene_names_uniprotkb": "MVK", "gene_names_refseq": "LRBP; MK; MVK; MVLK; POROK3", "protein_names_uniprotkb": "Mevalonate kinase; 2.7.1.36; MK", "protein_names_refseq": "LH receptor mRNA-binding protein; mevalonate kinase 1; mevalonate kinase isoform a", "tax_id": 9606, "disease": "mevalonic aciduria (Disease Ontology:DOID:0050452); hyperimmunoglobulinemia D periodic fever syndrome (Disease Ontology:DOID:0081450); cancer (Disease Ontology:DOID:162); lipid metabolism disorder (Disease Ontology:DOID:3146); porokeratosis (Disease Ontology:DOID:3805); porokeratosis 3, disseminated superficial actinic type (MONDO:MONDO:0008293)", "pathway": " (hsa:4598); (R-HSA-2426168); (R-HSA-9969896)", "pathway_count": 3, "publication_count": 111, "publication_id_list": "10026212;10369261;10369262;10400691;10401001;10417275;10620343;10666321;10759542;10896663;11160603;11237011;11278915;11313768;11313769;11414710;12083769;12177166;12764144;1377680;14729858;14730012;14766201;15536479;16464866;16519518;16684881;17449569;17925399;18302342;18327899;18559965;18654640;18682402;18726356;18937434;1968462;20138239;20394422;20450493;20719759;20937905;21420384;22634312;22983302;24781643;25502872;25892735;26811146;26992070;28218747;28832583;28834231;28904123;29242379;29437277;29557506;29769354;30315122;30410026;31844290;31848261;32157095;32350084;32357974;32822427;32897882;32938616;33246356;33298915;33717175;33912179;33968037;34145613;34357683;34561969;34751146;35051231;35251023;35580925;36371681;36581221;38253038;38550596;40596516;5918048;7567999;7592729;7732023;7909540;7911016;7913309;8020941;8302606;8593458;8619637;8626466;8626488;8647822;8663599;8798690;8806705;8976377;9099716;9325256;9380443;9392419;9604010;9634533;9741684;9748295", "class_list": "", "function": "A novel missense mutation in the MVK gene is associated with disseminated superficial porokeratosis., [RefSeq, PubMed]; Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis., [RefSeq, PubMed]; Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria., [RefSeq, PubMed]; Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. 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": 0, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "2.7.1.36", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0004496 mevalonate kinase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005777 peroxisome;GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0050728 negative regulation of inflammatory response;GO:0006695 cholesterol biosynthetic process;GO:0019287 isopentenyl diphosphate biosynthetic process, mevalonate pathway;GO:0033386 geranylgeranyl diphosphate biosynthetic process;GO:0033489 cholesterol biosynthetic process via desmosterol", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q03426-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96HV5-1", "uniprot_id": "TM41A_HUMAN", "mass": 29665.0, "length": 264, "protein_name": "Transmembrane protein 41A", "gene_name": "TMEM41A", "organism": "Human", "refseq_name": "transmembrane protein 41A precursor", "refseq_ac": "NP_542383", "gene_names_uniprotkb": "TMEM41A; PRO194", "gene_names_refseq": "2900010K02Rik; TMEM41A", "protein_names_uniprotkb": "Transmembrane protein 41A", "protein_names_refseq": "transmembrane protein 41A precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:90407)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;23481700;24397554;25576301;26992070;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29557506;30015937;30093494;30315122;30410026;31092671;31844290;32157095;32357974;32502341;32938616;33912179;33968037;36010968;37478120", "class_list": "", "function": "TMEM41A overexpression correlates with poor prognosis and immune alterations in patients with endometrial carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The present study demonstrated a reduction in TMEM41A expression levels in a pair of GC cell lines, and revealed that high TMEM41A expression levels may promote GC-associated metastasis, which may be mediated by the downregulation of E-cadherin 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": 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": 5, "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": "A8K4B3;D3DNU2;Q6ZMJ0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q96HV5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16774-1", "uniprot_id": "KGUA_HUMAN", "mass": 21726.0, "length": 197, "protein_name": "Guanylate kinase", "gene_name": "GUK1", "organism": "Human", "refseq_name": "guanylate kinase isoform b", "refseq_ac": "NP_000849", "gene_names_uniprotkb": "GUK1; GMK; GMPK", "gene_names_refseq": "GMK; GUK1; MTDPS21", "protein_names_uniprotkb": "Guanylate kinase; 2.7.4.8; GMP kinase; Guanylate kinase 1", "protein_names_refseq": "ATP:GMP phosphotransferase; GMP kinase; guanylate kinase isoform b", "tax_id": 9606, "disease": "mitochondrial DNA depletion syndrome-21 (Disease Ontology:DOID:0051029); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:2987); (R-HSA-499943); (R-HSA-9748787)", "pathway_count": 3, "publication_count": 109, "publication_id_list": "10215863;10453732;10618642;10716435;10799505;10840050;10884394;10899599;11237011;11277919;11278511;11517226;11796141;11912132;12435799;12697733;12972261;13211603;14729598;15630091;15747503;15850391;16179339;16373698;16530731;16717136;16756507;16820675;17301077;17320107;177353;17824959;17996297;18469;1851158;18635542;18997010;19176520;19220460;19766732;197968;20216118;21080915;211388;211390;21723252;22444596;22847445;23096567;23416111;23481700;23816837;24824603;24974183;2542324;26238318;2656695;2668278;27846572;28228285;28832583;28834231;29482072;29515371;29557506;29789417;30524438;30987408;31154438;31201273;31530632;31682009;31844290;31937595;32350084;32387766;32488085;32938616;32983136;33298915;33717175;33912179;33968037;34171305;34509645;36215666;36241641;39190717;39230499;40615;5484814;5767308;6182143;6248551;6306664;657528;6989049;7685356;7851394;8226881;8448179;8647247;8663313;8670112;9099726;9132023;942489;9488696;9677297", "class_list": "", "function": "Catalyzes the phosphorylation of GMP to GDP. Essential enzyme for recycling GMP and indirectly, cyclic GMP (cGMP) (PubMed:31201273). Involved in the cGMP metabolism in photoreceptors (By similarity). It may also have a role in the survival and growth progression of some tumors (PubMed:31201273). In addition to its physiological role, GUK1 is essential for converting prodrugs used for the treatment of cancers and viral infections into their pharmacologically active metabolites, most notably acyclovir, ganciclovir, and 6-thioguanine and its closely related analog 6-mercaptopurine (PubMed:197968, PubMed:6248551, PubMed:6306664)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; GUK1 expression in healthy palatal mucosa is strongly negatively correlated with serum cotinine levels, [RefSeq, PubMed]; The protein encoded by this gene is an enzyme that catalyzes the transfer of a phosphate group from ATP to guanosine monophosphate (GMP) to form guanosine diphosphate (GDP). The encoded protein is thought to be a good target for cancer chemotherapy. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "B1ANH1", "ec_number_list": "2.7.4.8", "go_molecular_function": "GO:0004385 GMP kinase activity;GO:0005524 ATP binding;GO:0016301 kinase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0001917 photoreceptor inner segment;GO:0005737 cytoplasm", "go_biological_process": "GO:0015949 nucleobase-containing small molecule interconversion;GO:0019673 GDP-mannose metabolic process;GO:0006185 dGDP biosynthetic process;GO:0046054 dGMP metabolic process;GO:0046060 dATP metabolic process", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q16774-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75600-1", "uniprot_id": "KBL_HUMAN", "mass": 45285.0, "length": 419, "protein_name": "2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial", "gene_name": "GCAT", "organism": "Human", "refseq_name": "2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform 1 precursor", "refseq_ac": "NP_001165161", "gene_names_uniprotkb": "GCAT; KBL", "gene_names_refseq": "GCAT; KBL", "protein_names_uniprotkb": "2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial; 2.3.1.29; AKB ligase; Aminoacetone synthase; Glycine acetyltransferase", "protein_names_refseq": "2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform 1 precursor; 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial; 2-amino-3-ketobutyrate-CoA ligase; AKB ligase; aminoacetone synthase; glycine acetyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:23464)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10712613;11237011;12174908;17688197;18477386;20877624;25418920;28904123;29557506;31844290;32157095;33912179;33981976;34357683;34561969;35051231;35318648", "class_list": "", "function": "Effect of gene on proliferation arrest in a non-small cell bronchopulmonary cancer line., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Pyridoxal phosphate (PLP) dependent enzyme, which catalyzes the cleavage of 2-amino-3-oxobutanoate to glycine and acetyl-CoA., [UniProtKB, UniProtKB]; The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 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": 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": "E2QC23;Q6ZWF1;Q96CA9", "ec_number_list": "2.3.1.29", "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0008890 glycine C-acetyltransferase activity;GO:0016746 acyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0016607 nuclear speck", "go_biological_process": "GO:0006520 amino acid metabolic process;GO:0006567 L-threonine catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "O75600-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P78413-1", "uniprot_id": "IRX4_HUMAN", "mass": 54445.0, "length": 519, "protein_name": "Iroquois-class homeodomain protein IRX-4", "gene_name": "IRX4", "organism": "Human", "refseq_name": "iroquois-class homeodomain protein IRX-4 isoform b", "refseq_ac": "NP_001265561", "gene_names_uniprotkb": "IRX4; IRXA3", "gene_names_refseq": "IRX4; IRXA3", "protein_names_uniprotkb": "Iroquois-class homeodomain protein IRX-4; Homeodomain protein IRXA3; Iroquois homeobox protein 4", "protein_names_refseq": "homeodomain protein IRXA3; iroquois homeobox protein 4; iroquois-class homeodomain protein IRX-4 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:50805)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10625552;11237011;18497553;22323358;24022300;32894817;33919200;35051231;37861198", "class_list": "", "function": "Dynamics and recognition of homeodomain containing protein-DNA complex of IRX4., [RefSeq, PubMed]; Epigenetic inactivation of IRX4 is responsible for acceleration of cell growth in human pancreatic cancer., [RefSeq, PubMed]; Identification and Characterization of Alternatively Spliced Transcript Isoforms of IRX4 in Prostate Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Likely to be an important mediator of ventricular differentiation during cardiac development., [UniProtKB]; Polymorphism A381>G of the Irx4 gene may have a modifier effect on septal thickness, resulting in increased corrected QT dispersion and higher outflow gradients. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; We independently validated IRX4 as a potential prostate cancer risk gene through cis-expression quantitative trait loci analysis of prostate cancer risk variants., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B2RMW5;D3DTC5;H1AFL0;H1AFL1;Q2NL64;Q9UHR2", "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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0048561 establishment of animal organ orientation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007507 heart development;GO:0030182 neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "P78413-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P56696-1", "uniprot_id": "KCNQ4_HUMAN", "mass": 77101.0, "length": 695, "protein_name": "Potassium voltage-gated channel subfamily KQT member 4", "gene_name": "KCNQ4", "organism": "Human", "refseq_name": "potassium voltage-gated channel subfamily KQT member 4 isoform a", "refseq_ac": "NP_004691", "gene_names_uniprotkb": "KCNQ4", "gene_names_refseq": "DFNA2A; DFNA2; KCNQ4; KV7.4", "protein_names_uniprotkb": "Potassium voltage-gated channel subfamily KQT member 4; KQT-like 4; Potassium channel subunit alpha KvLQT4; Voltage-gated potassium channel subunit Kv7.4", "protein_names_refseq": "potassium channel KQT-like 4; potassium channel subunit alpha KvLQT4; potassium channel, voltage gated KQT-like subfamily Q, member 4; potassium voltage-gated channel subfamily KQT member 4 isoform a; potassium voltage-gated channel subfamily KQT member 4; potassium voltage-gated channel, KQT-like subfamily, member 4", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 7 (Disease Ontology:DOID:0080462); autosomal dominant nonsyndromic deafness 2A (Disease Ontology:DOID:0110558); developmental and epileptic encephalopathy (Disease Ontology:DOID:0112202); sensorineural hearing loss (Disease Ontology:DOID:10003); heart conduction disease (Disease Ontology:DOID:10273); long QT syndrome (Disease Ontology:DOID:2843)", "pathway": " (hsa:9132); (R-HSA-1296072); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 4, "publication_count": 26, "publication_id_list": "10025409;10369879;10571947;10713961;10821263;10925378;11163272;11237011;11245603;17329207;20393197;21231794;21242547;23431407;27543614;28832583;28904123;29358396;29429937;29557506;32488085;34767770;37009795;37903775;37962101;38980994", "class_list": "", "function": "A novel variant c.902C>A (p. A301D) in KCNQ4 associated with non-syndromic deafness 2A in a Chinese family., [RefSeq, PubMed]; Comprehensive pan-cancer analysis of potassium voltage-gated channel Q4 (KCNQ4) gene across multiple human malignant tumors. Publication Status: Online-Only, [RefSeq, PubMed]; Natural History of KCNQ4 p.G285S Related Hearing Loss, Construction of iPSC and Mouse Model., [RefSeq, PubMed]; Overlooked KCNQ4 variants augment the risk of hearing loss., [RefSeq, PubMed]; Pore-forming subunit of the voltage-gated potassium (Kv) channel involved in the regulation of sensory cells excitability in the cochlea (PubMed:10025409, PubMed:34767770). KCNQ4/Kv7.4 channel is composed of 4 pore-forming subunits assembled as tetramers (PubMed:34767770). Promotes the outflow of potassium ions in the repolarization phase of action potential which plays a role in regulating membrane potential of excitable cells (PubMed:10025409, PubMed:11245603, PubMed:34767770). The channel conducts a slowly activating and deactivating current (PubMed:10025409, PubMed:11245603). Current often shows some inward rectification at positive potentials (PubMed:10025409). Channel may be selectively permeable in vitro to other cations besides potassium, in decreasing order of affinity K(+) = Rb(+) > Cs(+) > Na(+) (PubMed:10025409). Important for normal physiological function of inner ear such as sensory perception of sound (PubMed:10025409, PubMed:10369879)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 33, "reported_glycation": 0, "reported_snv": 8, "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": "O96025", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005267 potassium channel activity;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0008076 voltage-gated potassium channel complex;GO:0009925 basal plasma membrane;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0006813 potassium ion transport;GO:0007605 sensory perception of sound;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "P56696-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y4C1-1", "uniprot_id": "KDM3A_HUMAN", "mass": 147341.0, "length": 1321, "protein_name": "Lysine-specific demethylase 3A", "gene_name": "KDM3A", "organism": "Human", "refseq_name": "lysine-specific demethylase 3A", "refseq_ac": "NP_001140160", "gene_names_uniprotkb": "KDM3A; JHDM2A; JMJD1A; JMJD1; KIAA0742; TSGA", "gene_names_refseq": "JHDM2A; JHMD2A; JMJD1A; JMJD1; KDM3A; TSGA", "protein_names_uniprotkb": "Lysine-specific demethylase 3A; 1.14.11.65; JmjC domain-containing histone demethylation protein 2A; Jumonji domain-containing protein 1A; [histone H3]-dimethyl-L-lysine(9) demethylase 3A", "protein_names_refseq": "[histone H3]-dimethyl-L-lysine(9) demethylase 3A; jmjC domain-containing histone demethylation protein 2A; jumonji C domain-containing histone demethylase 2A; jumonji domain-containing protein 1A; lysine (K)-specific demethylase 3A; lysine-specific demethylase 3A; testis-specific protein A", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); alcohol use disorder (Disease Ontology:DOID:1574); colon cancer (Disease Ontology:DOID:219); Ewing sarcoma (Disease Ontology:DOID:3369); cervical cancer (Disease Ontology:DOID:4362); hepatocellular carcinoma (Disease Ontology:DOID:684); nasopharynx carcinoma (Disease Ontology:DOID:9261); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:55818); (R-HSA-3214842); (R-HSA-9029569)", "pathway_count": 3, "publication_count": 159, "publication_id_list": "10.1101/2023.09.13.557529;10858438;11149950;11237011;11500512;11604492;11875109;12032151;12150943;12454263;12612088;14703507;14764426;15147902;15302935;15620353;16362057;16603237;16603238;16732292;16732293;16738407;16959974;17186944;17310255;17320163;17351631;17713478;17947579;18538129;18669648;18713068;18782758;18984585;19481530;19502796;19608861;19651622;19727073;19843542;20023638;20068231;20084082;20129925;20208542;20457893;20466882;20466885;20494359;20566875;20622853;20622854;20855588;21187453;21310851;21406692;21507939;21532585;22424782;22541735;22544926;22615488;22673513;23186163;23301498;23481700;23496987;23519696;23593242;23790976;24715725;25418920;25505266;25535969;25576301;25645385;25892735;25948511;26154972;26811146;26984517;26992070;27600516;27893789;27920218;28082258;28218747;28228285;28262558;28514659;28649982;28832583;28834231;28842423;28869506;28904123;29242379;29393594;29437277;29493099;29557506;29563586;29632046;29632711;29674659;29769354;29772548;29786170;30192525;30315122;30410026;30484775;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34509645;34561969;34932366;35051231;35108679;35251023;35318648;35561310;35579678;35580925;36010968;36094735;36215666;36241641;36581221;37179361;37217939;37938771;38165573;39467631;39534244", "class_list": "", "function": "Histone demethylase JHDM2A participates in the repair of arsenic-induced DNA damage in L-02 cells by regulating DDB2., [RefSeq, PubMed]; Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Preferentially demethylates mono- and dimethylated H3 'Lys-9' residue, with a preference for dimethylated residue, while it has weak or no activity on trimethylated H3 'Lys-9'. Demethylation of Lys residue generates formaldehyde and succinate. Involved in hormone-dependent transcriptional activation, by participating in recruitment to androgen-receptor target genes, resulting in H3 'Lys-9' demethylation and transcriptional activation. Involved in spermatogenesis by regulating expression of target genes such as PRM1 and TNP1 which are required for packaging and condensation of sperm chromatin. Involved in obesity resistance through regulation of metabolic genes such as PPARA and UCP1., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Histone demethylases JMJD1A and JMJD2B are transcriptional targets of hypoxia-inducible factor HIF, [RefSeq, PubMed]; Impact of Hypoxia and the Levels of Transcription Factor HIF-1alpha and JMJD1A on Epithelial-Mesenchymal Transition in Head and Neck Squamous Cell Carcinoma Cell Lines., [RefSeq, PubMed]; KDM3A promotes oral squamous cell carcinoma cell proliferation and invasion via H3K9me2 demethylation-activated DCLK1., [RefSeq, PubMed]; Knockout of KDM3A in MDA-MB-231 breast cancer cells inhibits tumor malignancy and promotes apoptosis., [RefSeq, PubMed]; Results show that many genes regulated by hypoxia and HIF-1alpha show patterns of induction with JMJD (Jumonji-domain containing)1A and JMJD2B demonstrating robust, and JMJD2C more modest, up-regulation by hypoxia., [RefSeq, PubMed]; These findings demonstrate that JMJD1A can be stimulated by hypoxia both in vitro and in vivo involving binding of HIF-1 to a specific HRE in the JMJD1A promoter., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 8, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D6W5M3;Q53S72;Q68D47;Q68UT9;Q6N050;Q8IY08", "ec_number_list": "1.14.11.65;1.14.11.-;1.14.99.66;1.14.11.69;1.14.11.66;7.6.2.-", "go_molecular_function": "GO:0005506 iron ion binding;GO:0008270 zinc ion binding;GO:0031490 chromatin DNA binding;GO:0050681 nuclear androgen receptor binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0000785 chromatin", "go_biological_process": "GO:0046293 formaldehyde biosynthetic process;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q9Y4C1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5U4-1", "uniprot_id": "INSI2_HUMAN", "mass": 24778.0, "length": 225, "protein_name": "Insulin-induced gene 2 protein", "gene_name": "INSIG2", "organism": "Human", "refseq_name": "insulin-induced gene 2 protein isoform a", "refseq_ac": "NP_001308258", "gene_names_uniprotkb": "INSIG2", "gene_names_refseq": "INSIG-2; INSIG2", "protein_names_uniprotkb": "Insulin-induced gene 2 protein; INSIG-2", "protein_names_refseq": "INSIG2 membrane protein; insulin induced protein 2; insulin-induced gene 2 protein isoform a; insulin-induced gene 2 protein", "tax_id": 9606, "disease": "end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:51141); (R-HSA-1655829)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10397761;10428864;10644685;10805775;11237011;11283257;12242332;14645851;15550381;16606821;17043353;17428920;17449569;20068067;22143767;23481256;25892735;26160948;28228285;28514659;28849786;28904123;29242379;29374057;29557506;29769354;31154438;31844290;31875875;31953408;32157095;32322062;32357974;32502341;32938616;33141586;33592498;33912179;33968037;34192549;34298014;34315947;35580925;36010968;36515824;36581221;38287498;8156598;8674110;9488713;9634703;9659902", "class_list": "", "function": "Association of CNR1 and INSIG2 polymorphisms with antipsychotics-induced weight gain: a prospective nested case-control study. Publication Status: Online-Only, [RefSeq, PubMed]; Genome-wide loss-of-function genetic screen identifies INSIG2 as the vulnerability of hepatitis B virus-integrated hepatoma cells., [RefSeq, PubMed]; Insulin-induced gene 2 expression is associated with cervical adenocarcinoma malignant behavior., [RefSeq, PubMed]; Insulin-induced genes INSIG1 and INSIG2 mediate oxysterol-dependent activation of the PERK-eIF2alpha-ATF4 axis., [RefSeq, PubMed]; Oxysterol-binding protein that mediates feedback control of cholesterol synthesis by controlling both endoplasmic reticulum to Golgi transport of SCAP and degradation of HMGCR (PubMed:12242332, PubMed:16606821, PubMed:32322062). Acts as a negative regulator of cholesterol biosynthesis by mediating the retention of the SCAP-SREBP complex in the endoplasmic reticulum, thereby blocking the processing of sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:32322062). Binds oxysterol, including 22-hydroxycholesterol, 24-hydroxycholesterol, 25-hydroxycholesterol and 27-hydroxycholesterol, regulating interaction with SCAP and retention of the SCAP-SREBP complex in the endoplasmic reticulum (PubMed:17428920, PubMed:26160948, PubMed:32322062). In presence of oxysterol, interacts with SCAP, retaining the SCAP-SREBP complex in the endoplasmic reticulum, thereby preventing SCAP from escorting SREBF1/SREBP1 and SREBF2/SREBP2 to the Golgi (PubMed:32322062). Sterol deprivation or phosphorylation by PCK1 reduce oxysterol-binding, disrupting the interaction between INSIG2 and SCAP, thereby promoting Golgi transport of the SCAP-SREBP complex, followed by processing and nuclear translocation of SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:32322062). Also regulates cholesterol synthesis by regulating degradation of HMGCR: initiates the sterol-mediated ubiquitin-mediated endoplasmic reticulum-associated degradation (ERAD) of HMGCR via recruitment of the reductase to the ubiquitin ligase RNF139 (PubMed:16606821, PubMed:22143767)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Structural basis for sterol sensing by Scap and Insig., [RefSeq, PubMed]; The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing of sterol regulatory element binding proteins (SREBPs) by binding to SREBP cleavage-activating protein (SCAP), and thus prevent SCAP from escorting SREBPs to the Golgi. [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": 18, "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": "A8K5W8;Q8TBI8", "ec_number_list": "", "go_molecular_function": "GO:0008142 oxysterol binding;GO:0140311 protein sequestering activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0032937 SREBP-SCAP-Insig complex", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0008203 cholesterol metabolic process;GO:0032869 cellular response to insulin stimulus;GO:0006695 cholesterol biosynthetic process;GO:0070542 response to fatty acid", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9Y5U4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2U2-1", "uniprot_id": "KCNK7_HUMAN", "mass": 31947.0, "length": 307, "protein_name": "Potassium channel subfamily K member 7", "gene_name": "KCNK7", "organism": "Human", "refseq_name": "potassium channel subfamily K member 7 isoform C", "refseq_ac": "NP_005705", "gene_names_uniprotkb": "KCNK7", "gene_names_refseq": "K2p7.1; KCNK7; TWIK3", "protein_names_uniprotkb": "Potassium channel subfamily K member 7", "protein_names_refseq": "potassium channel subfamily K member 7 isoform C; potassium channel, two pore domain subfamily K, member 7; two pore domain K+ channel", "tax_id": 9606, "disease": "", "pathway": " (hsa:10089); (R-HSA-1299308); (R-HSA-5576886)", "pathway_count": 3, "publication_count": 12, "publication_id_list": "10206991;11237011;15795311;16382106;17652773;19959478;20393194;33912179;33968037;35051231;35494241;35580925", "class_list": "", "function": "Probable potassium channel subunit. No channel activity observed in vitro as protein remains in the endoplasmic reticulum. May need to associate with an as yet unknown partner in order to reach the plasma membrane., [UniProtKB]; This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel; however, it may require other non-pore-forming proteins for activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "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": "Q3SYI2;Q9Y2U3;Q9Y2U4", "ec_number_list": "", "go_molecular_function": "GO:0015271 outward rectifier potassium channel activity;GO:0022841 potassium ion leak channel activity;GO:0005267 potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0006813 potassium ion transport;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9Y2U2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14CN4-1", "uniprot_id": "K2C72_HUMAN", "mass": 55877.0, "length": 511, "protein_name": "Keratin, type II cytoskeletal 72", "gene_name": "KRT72", "organism": "Human", "refseq_name": "keratin, type II cytoskeletal 72 isoform 1", "refseq_ac": "NP_001139697", "gene_names_uniprotkb": "KRT72; K6IRS2; KB35; KRT6IRS2; KRT6", "gene_names_refseq": "CK-72; K6IRS2; K6irs; K72; KRT6IRS2; KRT6; KRT72", "protein_names_uniprotkb": "Keratin, type II cytoskeletal 72; CK-72; Cytokeratin-72; K72; Keratin-72; Type II inner root sheath-specific keratin-K6irs2; Type-II keratin Kb35", "protein_names_refseq": "cytokeratin-72; keratin 6, inner root sheath, 2; keratin 72, type II; keratin protein K6irs; keratin, type II cytoskeletal 72 isoform 1; keratin, type II cytoskeletal 72; type II inner root sheath-specific keratin-K6irs2; type-II keratin Kb35", "tax_id": 9606, "disease": "", "pathway": " (hsa:140807); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 64, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11237011;11350120;11380615;11590230;11703281;12648212;12902340;15033990;15337775;15373777;15797384;15803139;16061697;16382671;16639001;16874310;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20179351;20189848;20657595;20667819;20940292;21439340;21654840;21997417;22553810;23481192;23629652;2414304;25208914;25926655;26390218;27240462;32157095;32168425;32938616;33771844;33968037;34019948;34561969;35051231;35580925;38665916;7543090;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "Circ-Keratin 6c Promotes Malignant Progression and Immune Evasion of Colorectal Cancer through microRNA-485-3p/Programmed Cell Death Receptor Ligand 1 Axis., [RefSeq, PubMed]; Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable)., [UniProtKB]; Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. The type II keratins 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 gene encodes a type II keratin that is specifically expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q12-q13. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2009]., [RefSeq]; Ozone therapy promotes the differentiation of basal keratinocytes via increasing Tp63-mediated transcription of KRT10 to improve psoriasis., [RefSeq, PubMed]; The luminal cells of adenoid cystic carcinoma show a unique aberrant staining pattern for cytokeratin 5/6 that may aid in the differential diagnosis, [RefSeq, PubMed]; The results of CK5/6 and p63 in CNBs of papillary neoplasms were mostly representative of the final results for CK5/6 and p63 in subsequent surgical excisions, excisional biopsy is required for definitive subtyping, [RefSeq, PubMed]; We suggest that keratin 5/6 and bcl-2 should not be used to identify benign glands in prostate biopsy, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DEI8;H9KV51;Q8NA87;Q8WWY9;Q8WWZ0", "ec_number_list": "", "go_molecular_function": "GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0045095 keratin filament", "go_biological_process": "GO:0031424 keratinization;GO:0045109 intermediate filament organization", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q14CN4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NYR9-1", "uniprot_id": "KBRS2_HUMAN", "mass": 21508.0, "length": 191, "protein_name": "NF-kappa-B inhibitor-interacting Ras-like protein 2", "gene_name": "NKIRAS2", "organism": "Human", "refseq_name": "NF-kappa-B inhibitor-interacting Ras-like protein 2 isoform a", "refseq_ac": "NP_001001349", "gene_names_uniprotkb": "NKIRAS2; KBRAS2", "gene_names_refseq": "KBRAS2; NKIRAS2; kappaB-Ras2", "protein_names_uniprotkb": "NF-kappa-B inhibitor-interacting Ras-like protein 2; I-kappa-B-interacting Ras-like protein 2; Kappa B-Ras protein 2; KappaB-Ras2", "protein_names_refseq": "I-kappa-B-interacting Ras-like protein 2; NF-kappa-B inhibitor-interacting Ras-like protein 2 isoform a; NF-kappa-B inhibitor-interacting Ras-like protein 2; NFKB inhibitor interacting Ras-like protein 2; kappa B-Ras protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:28511); (R-HSA-1810476); (R-HSA-445989); (R-HSA-933542)", "pathway_count": 4, "publication_count": 64, "publication_id_list": "10657303;10723127;11237011;12221085;15145317;16056267;16115877;17047224;17728323;18434448;18462684;18941233;19590578;19666475;20639196;20696886;22645359;24901050;25418920;26154972;26992070;27701768;27862975;27920218;28218747;28228285;28832583;28904123;29242379;29437277;29493099;29557506;30315122;30410026;30524438;31217245;31530632;31844290;31937595;32157095;32161166;32387766;32488085;32502341;32938616;32983136;33392160;33633747;33936100;33968037;34093574;34171305;34211107;34509645;34667224;35051231;36010968;36215666;36241641;37938771;38946427;9008162;9689078;9865693", "class_list": "", "function": "Atypical Ras-like protein that acts as a potent regulator of NF-kappa-B activity by preventing the degradation of NF-kappa-B inhibitor beta (NFKBIB) by most signals, explaining why NFKBIB is more resistant to degradation. May act by blocking phosphorylation of NFKBIB and nuclear localization of p65/RELA NF-kappa-B subunit. It is unclear whether it acts as a GTPase. Both GTP- and GDP-bound forms block phosphorylation of NFKBIB (By similarity)., [UniProtKB]; GBM cells overexpressing TNFAIP3 and NKIRAS2 were refractory to miR-125b-induced apoptosis resistance as well as TMZ resistance, indicating that both genes are relevant targets of miR-125b. Publication Status: Online-Only, [RefSeq, PubMed]; K15 promoter-driven enforced expression of NKIRAS exhibits tumor suppressive activity against the development of DMBA/TPA-induced skin tumors. Publication Status: Online-Only, [RefSeq, PubMed]; KappaB-Ras2 is a nuclear-cytoplasmic small GTPase that inhibits NF-kappaB activation through the suppression of transcriptional activation of p65/RelA., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NCZ5;B3KNN0;B4DNM3;Q6PK52;Q96KC7;Q9NSX1", "ec_number_list": "", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0032794 GTPase activating protein binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0043124 negative regulation of canonical NF-kappaB signal transduction;GO:0032484 Ral protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q9NYR9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75387-1", "uniprot_id": "LAT3_HUMAN", "mass": 61477.0, "length": 559, "protein_name": "Large neutral amino acids transporter small subunit 3", "gene_name": "SLC43A1", "organism": "Human", "refseq_name": "large neutral amino acids transporter small subunit 3", "refseq_ac": "NP_001185739", "gene_names_uniprotkb": "SLC43A1; LAT3; PB39; POV1", "gene_names_refseq": "LAT3; PB39; POV1; R00504; SLC43A1", "protein_names_uniprotkb": "Large neutral amino acids transporter small subunit 3; L-type amino acid transporter 3; Prostate cancer overexpressed gene 1 protein; Solute carrier family 43 member 1", "protein_names_refseq": "L-type amino acid transporter 3; large neutral amino acids transporter small subunit 3; prostate cancer overexpressed gene 1 protein; solute carrier family 43 (amino acid system L transporter), member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8501); (R-HSA-352230)", "pathway_count": 2, "publication_count": 65, "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;19443642;20166139;21097500;23186163;23481700;24275569;24652292;26305885;26992070;27893789;28228285;28832583;28834231;28904123;29769354;30315122;30484775;30573663;31217245;31611695;31844290;32157095;32350084;32387766;33392160;33936100;34357683;35051231;35580925;7589472;8010975;8101838;8340364;8702519;8910405;9174363;9255310;9722952;9878049", "class_list": "", "function": "LAT3 is a transporter subserving system L2 and should denote a new family of organic solute transporters, [RefSeq, PubMed]; SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM, Mar 2008]., [RefSeq]; Uniport that mediates the transport of neutral amino acids such as L-leucine, L-isoleucine, L-valine, and L-phenylalanine (PubMed:12930836, PubMed:26305885). The transport activity is sodium ions-independent, electroneutral and mediated by a facilitated diffusion (PubMed:12930836). Mediates the efflux of 3,3'-diiodo-L-thyronine (3,3'-T2) and 3-iodo-L-tyrosine (MIT) (PubMed:26305885)., [UniProtKB, 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": 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": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0015188 L-isoleucine transmembrane transporter activity;GO:0015179 L-amino acid transmembrane transporter activity;GO:0015171 amino acid transmembrane transporter activity;GO:0015175 neutral L-amino acid transmembrane transporter activity;GO:0015190 L-leucine transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0016324 apical plasma membrane;GO:0098846 podocyte foot", "go_biological_process": "GO:0015820 L-leucine transport;GO:0006865 amino acid transport;GO:0015804 neutral amino acid transport;GO:0051956 negative regulation of amino acid transport;GO:0015818 isoleucine transport", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "O75387-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92813-1", "uniprot_id": "IOD2_HUMAN", "mass": 30552.0, "length": 273, "protein_name": "Type II iodothyronine deiodinase", "gene_name": "DIO2", "organism": "Human", "refseq_name": "type II iodothyronine deiodinase isoform a", "refseq_ac": "NP_054644", "gene_names_uniprotkb": "DIO2; ITDI2; TXDI2", "gene_names_refseq": "5DII; D2; DIO2; DIOII; SELENOY; SelY; TXDI2", "protein_names_uniprotkb": "Type II iodothyronine deiodinase; 1.21.99.4; 5DII; DIOII; Type 2 DI; Type-II 5'-deiodinase", "protein_names_refseq": "deiodinase, iodothyronine type II; deiodinase-2; deiodonase-2; selenoprotein Y; thyroxine deiodinase, type II; type 2 DI; type 2 iodothyronine deiodinase; type II iodothyronine deiodinase isoform a; type-II 5'-deiodinase; type-II 5'deiodinase", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); hypothyroidism (Disease Ontology:DOID:1459); glucose metabolism disease (Disease Ontology:DOID:4194); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1734); (R-HSA-350864)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10403186;11089566;11108274;11165050;11237011;12586771;12865408;1400883;18339710;18821722;19651899;32161166;32387766;32938616;33592498;33968037;34087483;35580925;38911040;7593630;8755651;9837913", "class_list": "", "function": "Plays a crucial role in the metabolism of thyroid hormones (TH) and has specific roles in TH activation and inactivation by deiodination (PubMed:12586771, PubMed:11108274, PubMed:10403186, PubMed:18821722). Catalyzes the deiodination of L-thyroxine (T4) to 3,5,3'-triiodothyronine (T3), 3,3',5'-triiodothyronine (rT3) to 3,3'-diiodothyronine (3,3'-T2) and 3',5'-diiodothyronine (3',5'-T2) to 3'-monoiodothyronine (3'-T1) via outer-ring deiodination (ORD) (PubMed:12586771, PubMed:11108274, PubMed:10403186, PubMed:18821722, PubMed:18339710). Catalyzes the phenolic ring deiodinations of 3,3',5'-triiodothyronamine and 3',5'- diiodothyronamine (PubMed:18339710)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Responsible for the deiodination of T4 (3,5,3',5'-tetraiodothyronine)., [UniProtKB, UniProtKB]; The Thr92Ala polymorphism in the type 2 deiodinase gene is linked to depression in patients with COVID-19 after hospital discharge. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the conversion of prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4) to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by outer ring 5'-deiodination. This gene is widely expressed, including in thyroid and brain. It is thought to be responsible for the 'local' production of T3, and thus important in influencing thyroid hormone action in these tissues. It has also been reported to be highly expressed in thyroids of patients with Graves disease, and in follicular adenomas. The intrathyroidal T4 to T3 conversion by this enzyme may contribute significantly to the relative increase in thyroidal T3 production in these patients. This protein is a selenoprotein containing the non-standard amino acid, selenocysteine (Sec), which is encoded by the UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Unlike the other two members (DIO1 and DIO3) of this enzyme family, the mRNA for this gene contains an additional in-frame UGA codon that has been reported (in human) to function either as a Sec or a stop codon, which can result in two isoforms with one or two Sec residues; however, only the upstream Sec (conserved with the single Sec residue found at the active site in DIO1 and DIO3) was shown to be essential for enzyme activity (PMID:10403186). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2018]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B9EGK0;G3V315;Q6B0A3;Q9HCP7;Q9HCP8;Q9P1W4;Q9UDZ1", "ec_number_list": "1.21.99.3;1.21.99.4", "go_molecular_function": "GO:0033798 thyroxine 5-deiodinase activity;GO:0031625 ubiquitin protein ligase binding;GO:0004800 thyroxine 5'-deiodinase activity;GO:0008430 selenium binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0001514 selenocysteine incorporation;GO:0042404 thyroid hormone catabolic process;GO:0032496 response to lipopolysaccharide;GO:0042446 hormone biosynthetic process;GO:0006590 thyroid hormone generation", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q92813-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96M32-1", "uniprot_id": "KAD7_HUMAN", "mass": 82658.0, "length": 723, "protein_name": "Adenylate kinase 7", "gene_name": "AK7", "organism": "Human", "refseq_name": "adenylate kinase 7 isoform 1", "refseq_ac": "NP_689540", "gene_names_uniprotkb": "AK7", "gene_names_refseq": "AK 7; AK7; CFAP75; FAP75; SPGF27", "protein_names_uniprotkb": "Adenylate kinase 7; 2.7.4.3; 2.7.4.6; AK 7; ATP-AMP transphosphorylase 7", "protein_names_refseq": "ATP-AMP transphosphorylase 7; adenylate kinase 7 isoform 1; putative adenylate kinase 7", "tax_id": 9606, "disease": "spermatogenic failure 27 (Disease Ontology:DOID:0111928); hydrocephalus (Disease Ontology:DOID:10908)", "pathway": " (hsa:122481); (R-HSA-499943)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "10215863;10453732;10618642;10716435;10799505;10884394;10899599;11237011;11277919;11278511;11517226;11796141;11912132;12972261;13211603;14729598;15630091;16179339;16373698;16756507;16820675;17320107;177353;17824959;18469;1851158;18635542;18997010;19176520;19220460;19766732;20537283;21080915;211388;211390;22801010;22847445;23416111;2542324;2656695;2668278;26992070;28834231;29365104;29557506;30192525;32251557;32488085;33936100;35051231;38492416;40615;5484814;6182143;6248551;7685356;7851394;8448179;8663313;9488696;9677297", "class_list": "", "function": "A novel genetic cause of asthenozoospermia due to MMAF and suggests that in humans, more deleterious mutations of AK7 might induce primary ciliary dyskinesia., [RefSeq, PubMed]; A novel homozygous nonsense variant of AK7 is associated with multiple morphological abnormalities of the sperm flagella., [RefSeq, PubMed]; AK7 may be involved in the development of Primary ciliary dyskinesia (PCD)., [RefSeq, PubMed]; Both AK7 and full-length AK8 showed highest affinity for AMP with ATP as the phosphate donor, and proved to be more efficient in AMP phosphorylation as compared with the major cytosolic isoform AK1, [RefSeq, PubMed]; Expression is decreased in patients with primary ciliary dyskinesia and is correlated with ciliary beat frequency of nasal epithelium cellsepithelium, [RefSeq, PubMed]; Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. Also displays broad nucleoside diphosphate kinase activity. Involved in maintaining ciliary structure and function., [UniProtKB, PubMed, PubMed]; The mRNA and protein expressions of AK1, AK6 and AK7 are significantly down-regulated in the sperm of asthenospermia patients, which may be closely related with reduced sperm motility., [RefSeq, PubMed]; This gene encodes a member of the adenylate kinase family of enzymes. The encoded enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This enzyme plays a role in energy homeostasis of the cell. Alternative splicing results in multiple transcript variants. Mutations in the mouse gene are associated with primary ciliary dyskinesia. [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": 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": "Q8IYP6", "ec_number_list": "2.7.4.10;2.7.4.6;2.7.4.3;2.7.4.4;3.1.11.-;2.7.11.1;2.7.13.3;2.7.4.18;3.1.24.-;2.7.4.14", "go_molecular_function": "GO:0004017 AMP kinase activity;GO:0005524 ATP binding;GO:0004550 nucleoside diphosphate kinase activity;GO:0036431 dCMP kinase activity;GO:0016301 kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0097228 sperm principal piece", "go_biological_process": "GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q96M32-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TDN1-1", "uniprot_id": "KCNG4_HUMAN", "mass": 58979.0, "length": 519, "protein_name": "Voltage-gated potassium channel regulatory subunit KCNG4", "gene_name": "KCNG4", "organism": "Human", "refseq_name": "voltage-gated potassium channel regulatory subunit KCNG4", "refseq_ac": "NP_758857", "gene_names_uniprotkb": "KCNG4; KCNG3", "gene_names_refseq": "KCNG4; KV6.3; KV6.4", "protein_names_uniprotkb": "Voltage-gated potassium channel regulatory subunit KCNG4; Potassium voltage-gated channel subfamily G member 4; Voltage-gated potassium channel subunit Kv6.3; Voltage-gated potassium channel subunit Kv6.4", "protein_names_refseq": "potassium channel, voltage gated modifier subfamily G, member 4; voltage-gated potassium channel Kv6.3; voltage-gated potassium channel regulatory subunit KCNG4; voltage-gated potassium channel subunit Kv6.3; voltage-gated potassium channel subunit Kv6.4", "tax_id": 9606, "disease": "", "pathway": " (hsa:93107); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "12060745;16096342;19074135;20393197;21231794;24715725;26242757;26505474;28904123;29557506;32697988;33141586;37217939;39201645", "class_list": "", "function": "Human Labor Pain Is Influenced by the Voltage-Gated Potassium Channel KV6.4 Subunit., [RefSeq, PubMed]; KCNE5 subunits may affect Kv2.1 homotetramers and Kv2.1/Kv6.4 heterotetramers in vivo, resulting in more tissue-specific fine-tuning mechanisms. Publication Status: Online-Only, [RefSeq, PubMed]; KCNG4 Genetic Variant Linked to Migraine Prevents Expression of KCNB1. Publication Status: Online-Only, [RefSeq, PubMed]; KvS subunits modify the pharmacological response of Kv2 subunits when assembled in heterotetramers and illustrate the potential of KvS subunits to provide unique properties to the heterotetramers, as is the case for 4-AP on Kv2.1/Kv6.4 channels. Publication Status: Online-Only, [RefSeq, PubMed]; Mutation of histidine 105 in the T1 domain of the potassium channel Kv2.1 disrupts heteromerization with Kv6.3 and Kv6.4., [RefSeq, PubMed]; Obligatory heterotetramerization of three previously uncharacterized Kv channel subunits identified in human genome (Kv6.3)(Kv10.1) (Kv11.1), [RefSeq, PubMed]; Regulatory subunit of the voltage-gated potassium (Kv) channel which, when coassembled with KCNB1, modulates the kinetics parameters of the heterotetrameric channel namely the time course of activation, deactivation and inactivation and on the voltage-dependence of activation (PubMed:12060745, PubMed:19074135). Potassium channel subunit that does not form functional channels by itself (Probable) (PubMed:12060745). Reduces the deactivation rate (PubMed:12060745, PubMed:19074135). Modulates the threshold for activation by shifting by approximately 20 mV in hyperpolarizing direction (PubMed:12060745). Markedly changes the inactivation by shifting the voltage dependence of inactivation by approximately 40 mV in hyperpolarizing direction (PubMed:12060745). Acceleratee activation and enhances the time course of activation (PubMed:12060745)., [UniProtKB, PubMed, PubMed]; This study suggests that the silent behaviour of Kv6.3 is largely caused by the C-terminal part of its sixth transmembrane domain that causes ER retention of the subunit., [RefSeq, PubMed]; Voltage-gated potassium (Kv) 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. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member functions as a modulatory subunit. The gene has strong expression in brain. Multiple alternatively spliced variants have been found in normal and cancerous tissues. [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": 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": "Q96H24", "ec_number_list": "", "go_molecular_function": "GO:0015459 potassium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:1901379 regulation of potassium ion transmembrane transport;GO:0051260 protein homooligomerization;GO:0001508 action potential;GO:0043266 regulation of potassium ion transport;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q8TDN1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WWU7-1", "uniprot_id": "ITLN2_HUMAN", "mass": 36212.0, "length": 325, "protein_name": "Intelectin-2", "gene_name": "ITLN2", "organism": "Human", "refseq_name": "intelectin-2 precursor", "refseq_ac": "NP_543154", "gene_names_uniprotkb": "ITLN2; PRO7179", "gene_names_refseq": "HL-2; HL2; ITLN2", "protein_names_uniprotkb": "Intelectin-2; Endothelial lectin HL-2", "protein_names_refseq": "endothelial lectin HL-2; intelectin-2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:142683)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11181563;12975309;15489334;16710414;19913121;20628086;20682687;23643964;26758079;35182405", "class_list": "glycogene", "function": "Human intelectin-2 (ITLN2) is selectively expressed by secretory Paneth cells., [RefSeq, PubMed]; May play a role in the defense system against pathogens., [UniProtKB]; Observational study of gene-disease association and gene-environment interaction. (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]; Studies indicate that ITLN1 and ITLN2 intelectins are positioned on a single chromosome 1, suggesting mammalian intelectins have been independently expanded by partial gene duplication., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 438, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q17RR2;Q5VYI0", "ec_number_list": "", "go_molecular_function": "GO:0070492 oligosaccharide binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8WWU7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92952-1", "uniprot_id": "KCNN1_HUMAN", "mass": 59987.0, "length": 543, "protein_name": "Small conductance calcium-activated potassium channel protein 1", "gene_name": "KCNN1", "organism": "Human", "refseq_name": "small conductance calcium-activated potassium channel protein 1 isoform 1", "refseq_ac": "NP_002239", "gene_names_uniprotkb": "KCNN1; SK", "gene_names_refseq": "KCNN1; KCa2.1; SK1; SKCA1; hSK1", "protein_names_uniprotkb": "Small conductance calcium-activated potassium channel protein 1; KCa2.1; SK1; SKCa 1; SKCa1; hSK1", "protein_names_refseq": "potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 1; potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1; small conductance calcium-activated potassium channel 1; small conductance calcium-activated potassium channel protein 1 isoform 1; small conductance calcium-activated potassium channel protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:3780); (R-HSA-1296052)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10516439;11237011;17142458;19074509;20178789;20689065;20859064;23496660;25576301;28228285;30315122;31048549;31844290;32387766;33392160;34043300;34111326;35051231;35580925;37831636;38018635;8781233;9287325", "class_list": "", "function": "A single coiled-coil domain mutation in hIKCa channel subunits disrupts preferential formation of heteromeric hSK1:hIKCa channels., [RefSeq, PubMed]; Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. [provided by RefSeq, Jul 2008]., [RefSeq]; Data demonstrate that IKCa and SK1 subunits prefer to form heteromeric channels when coexpressed in a heterologous system that will alter their responsiveness to pharmacological tools typically used to define their expression pattern., [RefSeq, PubMed]; Differential regulation of KCa 2.1 (KCNN1) K(+) channel expression by histone deacetylases in atrial fibrillation with concomitant heart failure., [RefSeq, PubMed]; KCNN1 promotes proliferation and metastasis of breast cancer via ERLIN2-mediated stabilization and K63-dependent ubiquitination of Cyclin B1., [RefSeq, PubMed]; Small conductance calcium-activated potassium channel that mediates the voltage-independent transmembrane transfer of potassium across the cell membrane through a constitutive interaction with calmodulin which binds the intracellular calcium allowing its opening (PubMed:17142458, PubMed:8781233, PubMed:9287325). The current is characterized by a voltage-independent activation, an intracellular calcium concentration increase-dependent activation and a single-channel conductance of about 3 picosiemens (PubMed:8781233). Also presents an inwardly rectifying current, thus reducing its already small outward conductance of potassium ions, which is particularly the case when the membrane potential displays positive values, above + 20 mV (Probable). Activation is followed by membrane hyperpolarization (By similarity). Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Targeting Kca3.1 Channels in Cancer. 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": 2, "reported_mutagensis": 6, "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": "Q5KR10;Q6DJU4", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0015269 calcium-activated potassium channel activity;GO:0016286 small conductance calcium-activated potassium channel activity;GO:0005242 inward rectifier potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043025 neuronal cell body;GO:0045202 synapse;GO:0043005 neuron projection;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0006813 potassium ion transport;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q92952-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92953-1", "uniprot_id": "KCNB2_HUMAN", "mass": 102563.0, "length": 911, "protein_name": "Potassium voltage-gated channel subfamily B member 2", "gene_name": "KCNB2", "organism": "Human", "refseq_name": "potassium voltage-gated channel subfamily B member 2", "refseq_ac": "NP_004761", "gene_names_uniprotkb": "KCNB2", "gene_names_refseq": "KCNB2; KV2.2", "protein_names_uniprotkb": "Potassium voltage-gated channel subfamily B member 2; Voltage-gated potassium channel subunit Kv2.2", "protein_names_refseq": "delayed rectifier potassium channel protein; potassium channel Kv2.2; potassium channel, voltage gated Shab related subfamily B, member 2; potassium voltage-gated channel subfamily B member 2; potassium voltage-gated channel, Shab-related subfamily, member 2; voltage-gated potassium channel subunit Kv2.2", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741)", "pathway": " (hsa:9312); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "10414301;16959974;20393197;21231794;28607108;29557506;32357974;33124732;34137443;34542799;37217939;9612272", "class_list": "", "function": "Kv2 channel-AMIGO beta-subunit assembly modulates both channel function and cell adhesion molecule surface trafficking., [RefSeq, PubMed]; Kv2.1, but not Kv2.2 (KCNB2), forms clusters of 6-12 tetrameric channels at the plasma membrane and facilitates insulin exocytosis, [RefSeq, PubMed]; Protein Kinase C Controls the Excitability of Cortical Pyramidal Neurons by Regulating Kv2.2 Channel Activity., [RefSeq, PubMed]; Voltage-gated potassium (Kv) 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, shab-related subfamily. This member is a delayed rectifier potassium channel. The gene is expressed in gastrointestinal smooth muscle cells. [provided by RefSeq, Jul 2008]., [RefSeq]; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and smooth muscle cells. Channels open or close in response to the voltage difference across the membrane, letting potassium ions pass in accordance with their electrochemical gradient. Homotetrameric channels mediate a delayed-rectifier voltage-dependent outward potassium current that display rapid activation and slow inactivation in response to membrane depolarization. Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNB1; channel properties depend on the type of alpha subunits that are part of the channel. Can also form functional heterotetrameric channels with other alpha subunits that are non-conducting when expressed alone, such as KCNS1 and KCNS2, creating a functionally diverse range of channel complexes. 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. Contributes to the delayed-rectifier voltage-gated potassium current in cortical pyramidal neurons and smooth muscle cells., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 71, "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": "Q7Z7D0;Q9BXD3", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005251 delayed rectifier potassium channel activity;GO:0046982 protein heterodimerization activity;GO:0015459 potassium channel regulator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030425 dendrite;GO:0043025 neuronal cell body;GO:0043204 perikaryon", "go_biological_process": "GO:0006940 regulation of smooth muscle contraction;GO:0051260 protein homooligomerization;GO:0072659 protein localization to plasma membrane;GO:0001508 action potential;GO:0006813 potassium ion transport", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q92953-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96I82-1", "uniprot_id": "KAZD1_HUMAN", "mass": 32945.0, "length": 304, "protein_name": "Kazal-type serine protease inhibitor domain-containing protein 1", "gene_name": "KAZALD1", "organism": "Human", "refseq_name": "kazal-type serine protease inhibitor domain-containing protein 1 isoform b", "refseq_ac": "NP_001306232", "gene_names_uniprotkb": "KAZALD1; FKSG28; FKSG40; PRO21184", "gene_names_refseq": "BONO1; FKSG28; FKSG40; IGFBP-rP10; KAZALD1", "protein_names_uniprotkb": "Kazal-type serine protease inhibitor domain-containing protein 1", "protein_names_refseq": "IGFBP-related protein 10; bone- and odontoblast-expressed gene 1; kazal-type serine protease inhibitor domain-containing protein 1 isoform b; kazal-type serine protease inhibitor domain-containing protein 1; novel kazal-type serine protease inhibitor domain and immunoglobulin domain containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:81621)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "12975309;15261838;15340161;15555553;22836805;24002581;26315110;33912179", "class_list": "", "function": "Expression of Bono1 was detected in osteoblasts and secretory odontoblasts by in situ hybridization. GeneRIF: This paper describes the identification and expression pattern of the mouse ortholog of the human gene., [RefSeq, PubMed]; Involved in the proliferation of osteoblasts during bone formation and bone regeneration. Promotes matrix assembly (By similarity)., [UniProtKB]; KAZALD1 gene was hypermethylated in sarcomatoid-type malignant peritoneal mesothelioma., [RefSeq, PubMed]; KAZALD1 hypomethylation indicates bad prognosis in small bowel adenocarcinoma, [RefSeq, PubMed]; KAZALD1 promotes glioma malignant progression through invasion and proliferation, [RefSeq, PubMed]; This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. The protein contains an insulin growth factor-binding domain in its N-terminal region, a Kazal-type serine protease inhibitor and follistatin-like domain in its central region, and an immunoglobulin-like domain in its C-terminal region. Studies of the mouse ortholog suggest that this protein may function in bone development and bone regeneration. This gene is hypomethylated and over-expressed in high-grade glioma compared to low-grade glioma, and thus the hypomethylated gene may be associated with cell proliferation and the shorter survival of patients with high-grade glioma. It is also one of numerous genes found to be deleted in a novel 5.54 Mb interstitial deletion, which is associated with multiple congenital anomalies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]; This paper suggests that the mouse ortholog of this human gene plays a role in bone formation and regeneration., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D3DR74;Q6ZMB1;Q9BQ73", "ec_number_list": "", "go_molecular_function": "GO:0005520 insulin-like growth factor binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005614 interstitial matrix", "go_biological_process": "GO:0030154 cell differentiation;GO:0001558 regulation of cell growth;GO:0009966 regulation of signal transduction;GO:0001503 ossification", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q96I82-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PR1-1", "uniprot_id": "KCNC2_HUMAN", "mass": 70226.0, "length": 638, "protein_name": "Voltage-gated potassium channel KCNC2", "gene_name": "KCNC2", "organism": "Human", "refseq_name": "voltage-gated potassium channel KCNC2 isoform 4", "refseq_ac": "NP_001247426", "gene_names_uniprotkb": "KCNC2", "gene_names_refseq": "DEE103; KCNC2; KV3.2", "protein_names_uniprotkb": "Voltage-gated potassium channel KCNC2; Potassium voltage-gated channel subfamily C member 2; Shaw-like potassium channel; Voltage-gated potassium channel Kv3.2", "protein_names_refseq": "potassium channel, voltage gated Shaw related subfamily C, member 2; potassium voltage-gated channel, Shaw-related subfamily, member 2; shaw-like potassium channel; voltage-gated potassium channel KCNC2 isoform 4; voltage-gated potassium channel KCNC2; voltage-gated potassium channel Kv3.2", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 103 (Disease Ontology:DOID:0070389); glioblastoma (Disease Ontology:DOID:3068)", "pathway": " (hsa:3747); (R-HSA-1296072); (R-HSA-381676)", "pathway_count": 3, "publication_count": 55, "publication_id_list": "10318832;10414303;11071853;11237011;11506885;12034449;12180908;12401793;12410638;12475787;12496249;12938160;13680124;14988243;15569269;15709110;15955806;15995848;16613879;16973695;17095603;17306374;17444618;17900700;18202100;18287102;18412318;18577758;19332619;19859570;19861722;20393197;21231794;21912965;23475819;26308095;28904123;31972370;32392612;33912179;34357683;34448338;35051231;35314505;36087422;36090251;7589461;8111118;8138058;8404634;8405712;8830891;9417641;9488697;9920805", "class_list": "", "function": "A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy., [RefSeq, PubMed]; Although all KV3 subunit transcripts are significantly expressed at embryonic age in whole brain extracts, only KV3.1, KV3.2 and KV3.4 subunit transgenic proteins are present., [RefSeq, PubMed]; In the absence of potassium ion, significant N-methyl-D-glucamine (NMDG)-positive currents could be recorded from human embryonic kidney cells expressing Kv3.1 or Kv3.2b channels and Kv1.5 Arg487Tyr/Val, but not wild-type channels., [RefSeq, PubMed]; Investigation of novel de novo KCNC2 variants causing severe developmental and early-onset epileptic encephalopathy., [RefSeq, PubMed]; Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants., [RefSeq, PubMed]; The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]., [RefSeq]; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Contributes to the regulation of the fast action potential repolarization and in sustained high-frequency firing in neurons of the central nervous system. Homotetramer channels mediate delayed-rectifier voltage-dependent potassium currents that activate rapidly at high-threshold voltages and inactivate slowly. Forms tetrameric 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 (Probable) (PubMed:15709110, PubMed:35314505, PubMed:36090251). Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNC1, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel. Channel properties may be modulated either by the association with ancillary subunits, such as KCNE1, KCNE2 or KCNE3 or indirectly by nitric oxide (NO) through a cGMP- and PKG-mediated signaling cascade, slowing channel activation and deactivation of delayed rectifier potassium channels (By similarity). Contributes to fire sustained trains of very brief action potentials at high frequency in retinal ganglion cells, thalamocortical and suprachiasmatic nucleus (SCN) neurons and in hippocampal and neocortical interneurons (PubMed:15709110). Sustained maximal action potential firing frequency in inhibitory hippocampal interneurons is negatively modulated by histamine H2 receptor activation in a cAMP- and protein kinase (PKA) phosphorylation-dependent manner. Plays a role in maintaining the fidelity of synaptic transmission in neocortical GABAergic interneurons by generating action potential (AP) repolarization at nerve terminals, thus reducing spike-evoked calcium influx and GABA neurotransmitter release. Required for long-range synchronization of gamma oscillations over distance in the neocortex. Contributes to the modulation of the circadian rhythm of spontaneous action potential firing in suprachiasmatic nucleus (SCN) neurons in a light-dependent manner (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "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": "B7Z231;F5H030;J3KPP5;Q4LE77;Q86W09;Q8N1V9;Q96PR0", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005251 delayed rectifier potassium channel activity;GO:0046872 metal ion binding;GO:0044325 transmembrane transporter 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:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0030424 axon", "go_biological_process": "GO:0071242 cellular response to ammonium ion;GO:1990089 response to nerve growth factor;GO:0045471 response to ethanol;GO:0051260 protein homooligomerization;GO:0051291 protein heterooligomerization", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q96PR1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96T54-3", "uniprot_id": "KCNKH_HUMAN", "mass": 36895.0, "length": 332, "protein_name": "Potassium channel subfamily K member 17", "gene_name": "KCNK17", "organism": "Human", "refseq_name": "potassium channel subfamily K member 17 isoform 2", "refseq_ac": "NP_001128583", "gene_names_uniprotkb": "KCNK17; PRO19634; TALK2; TASK4", "gene_names_refseq": "K2p17.1; KCNK17; TALK-2; TALK2; TASK-4; TASK4", "protein_names_uniprotkb": "Potassium channel subfamily K member 17; 2P domain potassium channel Talk-2; Acid-sensitive potassium channel protein TASK-4; TALK-2; TWIK-related acid-sensitive K(+) channel 4; TWIK-related alkaline pH-activated K(+) channel 2", "protein_names_refseq": "2P domain potassium channel Talk-2; TWIK-related acid-sensitive K(+) channel 4; TWIK-related acid-sensitive K+ 4; TWIK-related alkaline pH-activated K(+) channel 2; acid-sensitive potassium channel protein TASK-4; potassium channel subfamily K member 17 isoform 2; potassium channel, two pore domain subfamily K, member 17", "tax_id": 9606, "disease": "heart conduction disease (Disease Ontology:DOID:10273)", "pathway": " (hsa:89822); (R-HSA-1299361); (R-HSA-5576886)", "pathway_count": 3, "publication_count": 20, "publication_id_list": "11248242;11263999;12724142;12975309;15795311;16382106;17652773;20393194;24715725;24972929;25576301;26919430;29016681;29431731;29557506;30969900;33141586;36063992;36215666;39215031", "class_list": "", "function": "2 novel gene variants in REM2 and KCNK17 that provide a physiologically plausible explanation for variable expressivity in a large subset of patients in a multigenerational long QT syndrome type 2 family, [RefSeq, PubMed]; Ion occupancy of the selectivity filter controls opening of a cytoplasmic gate in the K2P channel TALK-2. Publication Status: Online-Only, [RefSeq, PubMed]; K(+) channel that conducts voltage-dependent outward rectifying currents upon membrane depolarization. Voltage sensing is coupled to K(+) electrochemical gradient in an 'ion flux gating' mode where outward but not inward ion flow opens the gate (PubMed:11248242, PubMed:11263999, PubMed:26919430, PubMed:36063992). Homo- and heterodimerizes to form functional channels with distinct regulatory and gating properties (PubMed:36063992). Present in the cardiac conduction system where it may regulate action potential duration and beating frequency of cardiac myocytes (PubMed:24972929). Permeable to other monovalent cations such as Rb(+) and Cs(+) (By similarity) (PubMed:26919430)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is activated at alkaline pH. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]., [RefSeq]; The results suggested that heterodimerization of TASK1 and TALK2 provides cells with the ability to make multiple responses to a variety of physiological and pharmacological stimuli. 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": 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": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 12, "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": "E9PB46;Q5TCF4;Q8TAW4;Q9BXD1;Q9H592", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0015271 outward rectifier potassium channel activity;GO:0022841 potassium ion leak channel activity;GO:0046872 metal ion binding;GO:0046982 protein heterodimerization activity;GO:0005267 potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0006813 potassium ion transport;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q96T54-3", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96T55-1", "uniprot_id": "KCNKG_HUMAN", "mass": 34153.0, "length": 309, "protein_name": "Potassium channel subfamily K member 16", "gene_name": "KCNK16", "organism": "Human", "refseq_name": "potassium channel subfamily K member 16 isoform 1", "refseq_ac": "NP_001128577", "gene_names_uniprotkb": "KCNK16; TALK1", "gene_names_refseq": "K2p16.1; KCNK16; TALK-1; TALK1", "protein_names_uniprotkb": "Potassium channel subfamily K member 16; 2P domain potassium channel Talk-1; TALK-1; TWIK-related alkaline pH-activated K(+) channel 1", "protein_names_refseq": "2P domain potassium channel Talk-1; TWIK-related alkaline pH-activated K(+) channel 1; pancreatic potassium channel Talk-1; potassium channel subfamily K member 16 isoform 1; potassium channel, subfamily K, member 16; potassium channel, two pore domain subfamily K, member 16", "tax_id": 9606, "disease": "heart conduction disease (Disease Ontology:DOID:10273)", "pathway": " (hsa:83795); (R-HSA-1299361); (R-HSA-5576886)", "pathway_count": 3, "publication_count": 22, "publication_id_list": "11237011;11263999;12724142;14985088;15795311;16382106;17652773;18516069;20393194;22158537;26239056;26919430;28403169;28904123;28928238;29348619;29402588;30078552;32928873;34032641;36063992;38206814", "class_list": "", "function": "At least two functional TALK-1 variants are present and may serve as background K+ currents in certain cells of the human pancreas., [RefSeq, PubMed]; Data establish TALK-1 channels as key regulators of beta cell ER Ca(2+) and suggest that TALK-1 may be a therapeutic target to reduce ER Ca(2+) handling defects in beta cells during the pathogenesis of diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; K(+) channel that conducts voltage-dependent outward rectifying currents upon membrane depolarization. Voltage sensing is coupled to K(+) electrochemical gradient in an 'ion flux gating' mode where outward but not inward ion flow opens the gate (PubMed:11263999, PubMed:12724142, PubMed:14985088, PubMed:26919430, PubMed:28928238, PubMed:34032641, PubMed:36063992). Homo- and heterodimerizes to form functional channels with distinct regulatory and gating properties (PubMed:36063992). In pancreatic islets, conducts K(+) countercurrents for Ca(2+) release from the endoplasmic reticulum (ER) and regulates the frequency and duration of cytosolic Ca(2+) oscillations coupled to secretion of pancreatic hormones (PubMed:26239056, PubMed:28928238, PubMed:29402588, PubMed:34032641). In pancreatic beta cells, drives ER Ca(2+) efflux, which in turn activates Ca(2+)-dependent plasma membrane K(+) slow currents and cytosolic Ca(2+) influx, overall contributing to synchronous cytosolic Ca(2+) oscillations. Limits glucose-induced cytosolic Ca(2+) oscillations coupled to second-phase INS secretion (PubMed:26239056, PubMed:28928238, PubMed:34032641). Contributes to beta cell adaptation to acute inflammation by maintaining normal cytosolic Ca(2+) levels and INS secretion (By similarity). May regulate beta cell mitochondrial Ca(2+) levels either indirectly via ER Ca(2+) efflux or directly by hyperpolarizing the mitochondrial membrane potential. Limits mitochondrial Ca(2+) oscillations and ATP production involved in glucose homeostasis upon metabolic stress (By similarity). In pancreatic delta cells, limits Ca(2+)-induced Ca(2+)-release involved in somatostatin secretion and modulates islet paracrine signaling involved in glucagon secretion (PubMed:29402588). Permeable to other monovalent cations such as Rb(+) and Cs(+) (By similarity) (PubMed:26919430)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The TALK-1/iOPN complex caused Vm hyperpolarization and reduced beta-cell glucose-stimulated Ca2+ influx, which is predicted to inhibit glucose stimulated insulin secretion. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is expressed predominantly in the pancreas and is activated at alkaline pH. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B5TJL9;Q2M2N9;Q5TCF3;Q6X6Z3;Q6X6Z4;Q6X6Z5;Q9H591", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0015271 outward rectifier potassium channel activity;GO:0022841 potassium ion leak channel activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005743 mitochondrial inner membrane;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0034702 monoatomic ion channel complex;GO:0016020 membrane", "go_biological_process": "GO:0086011 membrane repolarization during action potential;GO:0098900 regulation of action potential;GO:0006813 potassium ion transport;GO:0061178 regulation of insulin secretion involved in cellular response to glucose stimulus;GO:0051279 regulation of release of sequestered calcium ion into cytosol", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q96T55-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99456-1", "uniprot_id": "K1C12_HUMAN", "mass": 53511.0, "length": 494, "protein_name": "Keratin, type I cytoskeletal 12", "gene_name": "KRT12", "organism": "Human", "refseq_name": "keratin, type I cytoskeletal 12", "refseq_ac": "NP_000214", "gene_names_uniprotkb": "KRT12", "gene_names_refseq": "K12; KRT12; MECD1", "protein_names_uniprotkb": "Keratin, type I cytoskeletal 12; CK-12; Cytokeratin-12; K12; Keratin-12", "protein_names_refseq": "CK-12; cytokeratin-12; keratin 12, type I; keratin, type I cytoskeletal 12", "tax_id": 9606, "disease": "Meesmann corneal dystrophy (Disease Ontology:DOID:0060451); Meesmann corneal dystrophy 1 (Disease Ontology:DOID:0080670); corneal dystrophy (Disease Ontology:DOID:2566)", "pathway": " (hsa:3859); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10612503;10644419;10771479;10781519;11237011;11350120;11380615;11590230;12543196;12665801;12902340;15033990;15148206;15337775;15373777;15797384;15803139;16061697;16227835;16352477;16382671;16639001;1691188;1694855;1714783;17515931;17521629;17562024;17596512;17653038;18245975;18661274;18843291;19190773;19194479;20179351;20577595;20657595;20667819;20940292;21439340;21654840;21997417;23222558;23481192;23629652;24099278;2414304;25208914;25926655;26390218;26758872;26899008;28411811;28567551;28904123;29162348;29557506;30535821;30779550;32373127;32938616;34087483;35051231;35580925;38253038;38665916;7543090;8759347;8824274;8999895;9171831;9395522;9399908;9468612;9565599", "class_list": "", "function": "KC can co-exist with GCD. The missense mutation (c.370G > A) in the TGFBI gene and insert mutation (c.1456-1457ins GAT) in the KRT12 gene were identified in a 23-year-old male patient with concurrent KC and GCD., [RefSeq, PubMed]; KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008]., [RefSeq]; RT-PCR showed that K3 and K12 transcripts were absent from patient cells, but present in healthy control preparations., [RefSeq, PubMed]; Structural component of intermediate filaments in the corneal epithelium. Forms heteropolymers with the type II keratin KRT3, assembling into keratin intermediate filament networks that provide mechanical strength and structural integrity to the corneal epithelial layer., [UniProtKB, PubMed, PubMed]; We identified a heterozygous genetic mutation (c.394 C>G, p.L132V) in the KRT12 gene in six Japanese patients with inherited Meesmann corneal dystrophy. This is the first study to confirm this genetic mutation in Japanese Meesmann corneal dystrophy patients. This mutation has been independently reported in an American Meesmann corneal dystrophy patient, confirming its pathogenicity., [RefSeq, PubMed]; We show that the two PAX6 isoforms differentially and cooperatively regulate the expression of genes specific to the structure and functions of the corneal epithelium, particularly keratin 3 (KRT3) and keratin 12 (KRT12). PAX6 isoform-a induced KRT3 expression by targeting its upstream region. KLF4 enhanced this induction. A combination of PAX6 isoform-b, KLF4, and OCT4 induced KRT12 expression 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": 24, "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": "B2R9E0", "ec_number_list": "", "go_molecular_function": "GO:0005198 structural molecule activity;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0070062 extracellular exosome;GO:0045095 keratin filament;GO:0005882 intermediate filament", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0007601 visual perception;GO:0045109 intermediate filament organization;GO:0002009 morphogenesis of an epithelium;GO:0061303 cornea development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q99456-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H095-1", "uniprot_id": "DRC9_HUMAN", "mass": 51918.0, "length": 443, "protein_name": "Dynein regulatory complex protein 9", "gene_name": "DRC9", "organism": "Human", "refseq_name": "dynein regulatory complex protein 9 isoform a", "refseq_ac": "NP_001127907", "gene_names_uniprotkb": "DRC9; IQCG", "gene_names_refseq": "CFAP122; DRC9; IQCG", "protein_names_uniprotkb": "Dynein regulatory complex protein 9; IQ domain-containing protein G", "protein_names_refseq": "IQ domain-containing protein G; IQ motif containing G; dynein regulatory complex protein 9 isoform a; dynein regulatory complex protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:84223)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11230166;11237011;24787902;26154972;26675333;27600516;27920218;28904123;29393594;29632046;31154438;32157095;32938616;33592498;33968037;34087483;36241641;39894887", "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. Binds calmodulin when cellular Ca(2+) levels are low and thereby contributes to the regulation of calcium and calmodulin-dependent protein kinase IV (CAMK4) activity; contributes to the regulation of CAMK4 signaling cascades. Required for normal axoneme assembly in sperm flagella, normal sperm tail formation and for male fertility., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Human NUP98-IQCG fusion protein could induce fatal and transplantable acute myelomonocytic leukemia in a mouse model, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BST2;Q9HAG8", "ec_number_list": "", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0030544 Hsp70 protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031514 motile cilium;GO:0070062 extracellular exosome;GO:0036126 sperm flagellum", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0007286 spermatid development;GO:0003341 cilium movement;GO:0044782 cilium organization;GO:0007288 sperm axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9H095-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H2K0-1", "uniprot_id": "IF3M_HUMAN", "mass": 31725.0, "length": 278, "protein_name": "Translation initiation factor IF-3, mitochondrial", "gene_name": "MTIF3", "organism": "Human", "refseq_name": "translation initiation factor IF-3, mitochondrial", "refseq_ac": "NP_001159733", "gene_names_uniprotkb": "MTIF3; DC38", "gene_names_refseq": "IF3mt; MTIF3", "protein_names_uniprotkb": "Translation initiation factor IF-3, mitochondrial; IF-3(Mt); IF-3Mt; IF3(mt); IF3mt", "protein_names_refseq": "IF-3(Mt); translation initiation factor IF-3, mitochondrial", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:219402); (R-HSA-5368286)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "12095986;17267121;21907147;31694510;31844290;32346061;32938616;33298915;35580925;36876906", "class_list": "", "function": "IF-3 binds to the 28S ribosomal subunit and shifts the equilibrium between 55S ribosomes and their 39S and 28S subunits in favor of the free subunits, thus enhancing the availability of 28S subunits on which protein synthesis initiation begins., [UniProtKB, PubMed]; Identification of a weight loss-associated causal eQTL in MTIF3 and the effects of MTIF3 deficiency on human adipocyte function. Publication Status: Online-Only, [RefSeq, PubMed]; Initiation Factor 3 is Dispensable For Mitochondrial Translation in Cultured Human Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The c.798C>T polymorphism of the MTIF3 gene showed allelic association with Parkinson's disease GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a translation initiation factor that is involved in mitochondrial protein synthesis. Polymorphism in this gene is associated with the onset of Parkinson's disease. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Oct 2009]., [RefSeq]; This is dedicated to the mitochondrial translation initiation factor 3 (IF3mt), which plays a key role in the protein synthesis in mitochondria. Involvement of IF3mt in human health and disease is discussed. 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": 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": "Q05BL8;Q5W0V0;Q86X68", "ec_number_list": "", "go_molecular_function": "GO:0043024 ribosomal small subunit binding;GO:0008135 translation factor activity, RNA binding;GO:0043022 ribosome binding;GO:0003743 translation initiation factor activity", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0032790 ribosome disassembly;GO:0070124 mitochondrial translational initiation", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9H2K0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H427-1", "uniprot_id": "KCNKF_HUMAN", "mass": 36222.0, "length": 330, "protein_name": "Potassium channel subfamily K member 15", "gene_name": "KCNK15", "organism": "Human", "refseq_name": "potassium channel subfamily K member 15", "refseq_ac": "NP_071753", "gene_names_uniprotkb": "KCNK15; TASK5", "gene_names_refseq": "K2p15.1; KCNK11; KCNK14; KCNK15; KT3.3; TASK-5; TASK5; dJ781B1.1", "protein_names_uniprotkb": "Potassium channel subfamily K member 15; Acid-sensitive potassium channel protein TASK-5; TWIK-related acid-sensitive K(+) channel 5; Two pore K(+) channel KT3.3; Two pore potassium channel KT3.3", "protein_names_refseq": "TWIK-related acid-sensitive K(+) channel 5; TWIK-related acid-sensitive K+ 5; acid-sensitive potassium channel protein TASK-5; potassium channel subfamily K member 15; potassium channel, subfamily K, member 14; potassium channel, two pore domain subfamily K, member 15; two pore K(+) channel KT3.3; two pore potassium channel KT3.3", "tax_id": 9606, "disease": "", "pathway": " (hsa:60598); (R-HSA-5576886)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "11409881;11431495;11680614;11749039;15795311;16382106;17652773;20393194;29242379;29393594;39215006", "class_list": "", "function": "Potassium channel TASK-5 forms functional heterodimers with TASK-1 and TASK-3 to break its silence. Publication Status: Online-Only, [RefSeq, PubMed]; Probable potassium channel subunit. No channel activity observed in heterologous systems. May need to associate with another protein to form a functional channel., [UniProtKB]; This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 4, "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": "Q52LL3;Q9HBC8", "ec_number_list": "", "go_molecular_function": "GO:0022841 potassium ion leak channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0071468 cellular response to acidic pH;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9H427-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HCM3-1", "uniprot_id": "K1549_HUMAN", "mass": 210755.0, "length": 1950, "protein_name": "UPF0606 protein KIAA1549", "gene_name": "KIAA1549", "organism": "Human", "refseq_name": "UPF0606 protein KIAA1549 isoform 2", "refseq_ac": "NP_001158137", "gene_names_uniprotkb": "KIAA1549", "gene_names_refseq": "KIAA1549; RP86", "protein_names_uniprotkb": "UPF0606 protein KIAA1549", "protein_names_refseq": "UPF0606 protein KIAA1549 isoform 2", "tax_id": 9606, "disease": "retinitis pigmentosa 86 (Disease Ontology:DOID:0112143)", "pathway": " (hsa:57670); (R-HSA-6802952)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11230166;15630448;17081983;18974108;19651622;19664994;20526349;21424530;21696415;22157620;22591444;22745804;22898188;23481700;23583981;24135138;24345920;24715725;25204415;25418920;25576301;25645385;25813380;25892735;25907612;26811146;28218747;28512129;28514659;28904123;29393594;29437277;29557506;29632046;30120214;30524438;30833945;31154438;31530632;31844290;32157095;32161166;32265295;32387766;32488085;32938616;33298915;33392160;33592498;33641074;33912179;33968037;34171305;34185709;34509645;34561969;35051231;35580925;36010968;36215666;37140813", "class_list": "", "function": "Concomitant KIAA1549-BRAF fusion and IDH mutation in Pediatric spinal cord astrocytoma: a case report and literature review. Review article, [RefSeq, PubMed]; KIAA1549 promotes the development and chemoresistance of colorectal cancer by upregulating ERCC2., [RefSeq, PubMed]; KIAA1549:BRAF fusions predominate in pilocytic astrocytomas but are also present in some low-grade unclassifiable gliomas and glioneuronal tumors., [RefSeq, PubMed]; May play a role in photoreceptor function., [UniProtKB, PubMed]; Our results suggest that in a small fraction of diffuse gliomas, KIAA1549-BRAF fusion gene and BRAF(v600E) mutation may be responsible for deregulation of the Ras-RAF-ERK signaling pathway, [RefSeq, PubMed]; The frequency of BRAF-KIAA1549 fusion transcripts is significantly lower in adult patients with pilocytic astrocytoma., [RefSeq, PubMed]; The protein encoded by this gene belongs to the UPF0606 family. This gene has been found to be fused to the BRAF oncogene in many cases of pilocytic astrocytoma. The fusion results from 2Mb tandem duplications at 7q34. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 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": 2, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 80, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "B6HY55;B6HY56;B6HY58;B6HY60;B6HY61;B6HY62;B6HY63;B6HY64;B6HY65;B6HY66;Q5BJD6;Q8IY15;Q9H0M3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0032391 photoreceptor connecting cilium", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9HCM3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NS40-1", "uniprot_id": "KCNH7_HUMAN", "mass": 135000.0, "length": 1196, "protein_name": "Voltage-gated inwardly rectifying potassium channel KCNH7", "gene_name": "KCNH7", "organism": "Human", "refseq_name": "voltage-gated inwardly rectifying potassium channel KCNH7 isoform 1", "refseq_ac": "NP_150375", "gene_names_uniprotkb": "KCNH7; ERG3", "gene_names_refseq": "ERG3; HERG3; KCNH7; Kv11.3", "protein_names_uniprotkb": "Voltage-gated inwardly rectifying potassium channel KCNH7; ERG-3; Eag-related protein 3; Ether-a-go-go-related gene potassium channel 3; Ether-a-go-go-related protein 3; Potassium voltage-gated channel subfamily H member 7; Voltage-gated potassium channel subunit Kv11.3; hERG-3", "protein_names_refseq": "ERG-3; eag-related protein 3; ether-a-go-go-related gene potassium channel 3; ether-a-go-go-related protein 3; potassium channel subunit HERG-3; potassium channel, voltage gated eag related subfamily H, member 7; voltage-gated inwardly rectifying potassium channel KCNH7 isoform 1; voltage-gated inwardly rectifying potassium channel KCNH7; voltage-gated potassium channel subunit Kv11.3", "tax_id": 9606, "disease": "heart conduction disease (Disease Ontology:DOID:10273); epilepsy (Disease Ontology:DOID:1826); long QT syndrome (Disease Ontology:DOID:2843)", "pathway": " (hsa:90134); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "12634931;15961404;17924679;19664994;20393197;21231794;24190977;24715725;26942884;26992070;27862975;29393594;29557506;30016551;32723862;34087483;35051231;35818223;38253038", "class_list": "", "function": "Discovery of a heme-binding domain in a neuronal voltage-gated potassium channel. Erratum:[J Biol Chem. 2022 Mar;298(3):101754. doi: 10.1016/j.jbc.2022.101754. PMID: 35247676], [RefSeq, PubMed]; Low ERG3 expression is associated with epilepsy., [RefSeq, PubMed]; Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel (PubMed:32723862). Exhibits faster activation and deactivation kinetics and slow inactivation at membrane potentials positive to 240 mV, resulting in the weakest inward rectification (PubMed:32723862)., [UniProtKB, PubMed]; Potassium Ion Channel Protein (KCNH) Levels in Patients with Fibromyalgia Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; The recombinant wild-type ERG3 protein produced in HEK cells generates two prominent bands. When the entire CNBD of ERG3 protein was deleted, only an EndoH-sensitive band was generated, indicating that this band constitutes the immature species., [RefSeq, PubMed]; Transcripts for HERG1 were present in all adenomas and although transcripts for HERG2 and HERG3 were also detected, their expression level was more variable., [RefSeq, PubMed]; Voltage-gated potassium (Kv) 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. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; We have discovered that, the Kv11.3 (hERG3) a plasma-membrane potassium channel plays a critical role in the regulation of autophagy in a melanoma cell model, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 58, "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": "Q53QU4;Q53TB7;Q53TP9;Q8IV15", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0020037 heme binding;GO:0005242 inward rectifier potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0042391 regulation of membrane potential;GO:0006813 potassium ion transport;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9NS40-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NVX7-2", "uniprot_id": "KBTB4_HUMAN", "mass": 59904.0, "length": 534, "protein_name": "Kelch repeat and BTB domain-containing protein 4", "gene_name": "KBTBD4", "organism": "Human", "refseq_name": "kelch repeat and BTB domain-containing protein 4 isoform c", "refseq_ac": "NP_001305645", "gene_names_uniprotkb": "KBTBD4; BKLHD4", "gene_names_refseq": "BKLHD4; HSPC252; KBTBD4", "protein_names_uniprotkb": "Kelch repeat and BTB domain-containing protein 4; BTB and kelch domain-containing protein 4", "protein_names_refseq": "BTB and kelch domain containing 4; BTB and kelch domain-containing protein 4; kelch repeat and BTB (POZ) domain containing 4; kelch repeat and BTB domain-containing protein 4 isoform c; kelch repeat and BTB domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:55709)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "22544926;23481700;25645385;26375851;27600516;27920218;28218747;28228285;28832583;28834231;29242379;29786170;30315122;30524438;30833945;31154438;31403685;31848261;31998317;32161166;33417871;35000018;35379950;36997086", "class_list": "", "function": "Disease-associated KBTBD4 mutations in medulloblastoma elicit neomorphic ubiquitylation activity to promote CoREST degradation., [RefSeq, PubMed]; Our findings suggest that KBTBD4 mutations are uncommon in Brazilian MBGRP3 and MBGRP4 medulloblastomas subgroups., [RefSeq, PubMed]; Role of proliferative marker index and KBTBD4 mutation in the pathological diagnosis of pineal parenchymal tumors., [RefSeq, PubMed]; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex which targets CoREST corepressor complex components RCOR1, KDM1A/LSD1 and HDAC2 for proteasomal degradation (PubMed:33417871). RCOR1 is likely to be the primary target while degradation of KDM1A and HDAC2 is likely due to their association with RCOR1 (PubMed:33417871). Also targets RCOR3, MIER2 and MIER3 for proteasomal degradation as well as associated proteins ZNF217 and RREB1 (PubMed:36997086). Degradation is dependent on the presence of an ELM2 domain in the target proteins (PubMed:36997086)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A0A075B6T4;B3KRH9;D3DQS1;D3DQS2;Q6IA85;Q9BUC3;Q9NV76", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9NVX7-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NZH7-1", "uniprot_id": "IL36B_HUMAN", "mass": 18522.0, "length": 164, "protein_name": "Interleukin-36 beta", "gene_name": "IL36B", "organism": "Human", "refseq_name": "interleukin-36 beta isoform 1", "refseq_ac": "NP_055253", "gene_names_uniprotkb": "IL36B; IL1F8; IL1H2", "gene_names_refseq": "FIL1-(ETA); FIL1H; FIL1; FILI-(ETA); IL-1F8; IL-1H2; IL1-ETA; IL1F8; IL1H2; IL36B", "protein_names_uniprotkb": "Interleukin-36 beta; FIL1 eta; IL-1 eta; IL-1F8; IL-1H2; Interleukin-1 eta; Interleukin-1 family member 8; Interleukin-1 homolog 2", "protein_names_refseq": "FIL1 eta; IL-1 eta; IL-1F8 (FIL1-eta); Interleukin-1 Superfamily e; family of interleukin 1-eta; interleukin 1 family, member 8 (eta); interleukin-1 eta; interleukin-1 family member 8; interleukin-1 homolog 2; interleukin-36 beta isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:27177); (R-HSA-9014826)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10625660;10744718;11466363;11991722;14734551;16646978;19413330;20300079;21242515;21881584;21965679;22315422;24829417;25673295;32013927;32272059;35698471;35903102;36240223;37217939;37446281;38189700", "class_list": "", "function": "Cytokine that binds to and signals through the IL1RL2/IL-36R receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells linked to a pro-inflammatory response. Part of the IL-36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor IL1RAP. Stimulates production of interleukin-6 and interleukin-8 in synovial fibrobasts, articular chondrocytes and mature adipocytes. Induces expression of a number of antimicrobial peptides including beta-defensins 4 and 103 as well as a number of matrix metalloproteases. Seems to be involved in skin inflammatory response by acting on keratinocytes, dendritic cells and indirectly on T-cells to drive tissue infiltration, cell maturation and cell proliferation. In cultured keratinocytes induces the expression of macrophage, T-cell, and neutrophil chemokines, such as CCL3, CCL4, CCL5, CCL2, CCL17, CCL22, CL20, CCL5, CCL2, CCL17, CCL22, CXCL8, CCL20 and CXCL1, and the production of pro-inflammatory cytokines such as TNF, IL-8 and IL-6., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Emerging Role of the IL-36/IL-36R Axis in Multiple Inflammatory Skin Diseases. Review article, [RefSeq, PubMed]; IL-36 Cytokines: Their Roles in Asthma and Potential as a Therapeutic. Review article Publication Status: Online-Only, [RefSeq, PubMed]; IL-36 is Closely Related to Neutrophilic Inflammation in Chronic Obstructive Pulmonary Disease. Publication Status: Online-Only, [RefSeq, PubMed]; IL-36 s in the colorectal cancer: is interleukin 36 good or bad for the development of colorectal cancer? Publication Status: Online-Only, [RefSeq, PubMed]; Increased Interleukin-36beta Expression Promotes Angiogenesis in Japanese Atopic Dermatitis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the interleukin 1 cytokine family. Protein structure modeling indicated that this cytokine may contain a 12-stranded beta-trefoil structure that is conserved between IL1A (IL-A alpha) and IL1B (IL-1 beta). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. 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": 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": 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": "Q3MIH0;Q53SR6;Q7RTZ7;Q9UHA5", "ec_number_list": "", "go_molecular_function": "GO:0005125 cytokine activity;GO:0005149 interleukin-1 receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "GO:0006954 inflammatory response;GO:0006955 immune response;GO:0045087 innate immune response;GO:0071222 cellular response to lipopolysaccharide;GO:0019221 cytokine-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9NZH7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UC07-1", "uniprot_id": "ZNF69_HUMAN", "mass": 65761.0, "length": 566, "protein_name": "Zinc finger protein 69", "gene_name": "ZNF69", "organism": "Human", "refseq_name": "zinc finger protein 69 isoform 2", "refseq_ac": "NP_068734", "gene_names_uniprotkb": "ZNF69", "gene_names_refseq": "Cos5; ZNF69; hZNF3", "protein_names_uniprotkb": "Zinc finger protein 69; hZNF3", "protein_names_refseq": "ZNF3; zinc finger protein 69 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:7620)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;1639391;25576301;29493099;30429286;31848261;32157095", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q86VA7", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein 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;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9UC07-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UGI6-1", "uniprot_id": "KCNN3_HUMAN", "mass": 81385.0, "length": 731, "protein_name": "Small conductance calcium-activated potassium channel protein 3", "gene_name": "KCNN3", "organism": "Human", "refseq_name": "small conductance calcium-activated potassium channel protein 3 isoform c", "refseq_ac": "NP_001191016", "gene_names_uniprotkb": "KCNN3; K3", "gene_names_refseq": "KCNN3; KCa2.3; SK3; SKCA3; ZLS3; hSK3", "protein_names_uniprotkb": "Small conductance calcium-activated potassium channel protein 3; KCa2.3; SK3; SKCa 3; SKCa3", "protein_names_refseq": "SKCa 3; potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3; potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3; small conductance calcium-activated potassium channel 3; small conductance calcium-activated potassium channel protein 3 isoform c", "tax_id": 9606, "disease": "paranoid schizophrenia (Disease Ontology:DOID:1229); schizophrenia (Disease Ontology:DOID:5419); Zimmermann-Laband syndrome 3 (MONDO:MONDO:0032854)", "pathway": " (hsa:3782); (R-HSA-1296052)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "11237011;11501944;12808432;19074509;20178789;20562108;20689065;20859064;26658685;30315122;30626607;31092671;31154438;31155282;31530632;32350084;32640738;33310041;33592498;33594261;33633747;33691108;33717175;33912179;33936100;34357683;34433824;34561969;34932366;35051231;35154160;35488306;36502918;36581221;37938771;38253038;9491810", "class_list": "", "function": "Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]., [RefSeq]; Does not function as a small conductance calcium-activated potassium channel (Probable). Selectively suppresses endogenous KCNN3 currents, in a dominant-negative fashion by decreasing the abundance of functional channels in the plasma membrane, possibly by selectively coassembling with and sequestering native KCNN3 protein in intracellular compartments (PubMed:12808432). This dominant inhibitory effect extends to other members of the SK subfamily (PubMed:12808432)., [UniProtKB, PubMed]; HDAC2-dependent remodeling of KCa2.2 (KCNN2) and KCa2.3 (KCNN3) K(+) channels in atrial fibrillation with concomitant heart failure., [RefSeq, PubMed]; Hypoxia Promotes Prostate Cancer Aggressiveness by Upregulating EMT-Activator Zeb1 and SK3 Channel Expression. Publication Status: Online-Only, [RefSeq, PubMed]; Preferential formation of human heteromeric SK2:SK3 channels limits homomeric SK channel assembly and function., [RefSeq, PubMed]; Small conductance calcium-activated potassium channel that mediates the voltage-independent transmembrane transfer of potassium across the cell membrane through a constitutive interaction with calmodulin which binds the intracellular calcium allowing its opening (PubMed:12808432, PubMed:20562108, PubMed:31155282, PubMed:36502918). The current is characterized by a voltage-independent activation, an intracellular calcium concentration increase-dependent activation and a single-channel conductance of 10 picosiemens (PubMed:12808432, PubMed:20562108, PubMed:31155282, PubMed:36502918). Also presents an inwardly rectifying current, thus reducing its already small outward conductance of potassium ions, which is particularly the case when the membrane potential displays positive values, above + 20 mV (PubMed:12808432). Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K(+) channelopathies., [RefSeq, PubMed]; The role of SK3 in progesterone-induced inhibition of human fallopian tubal contraction. 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": 3, "reported_glycation": 0, "reported_snv": 18, "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": "B1ANX0;O43517;Q86VF9;Q8WXG7", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0016286 small conductance calcium-activated potassium channel activity;GO:0005242 inward rectifier potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043025 neuronal cell body;GO:0043005 neuron projection;GO:0030018 Z disc;GO:0016020 membrane", "go_biological_process": "GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9UGI6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UQ05-1", "uniprot_id": "KCNH4_HUMAN", "mass": 111693.0, "length": 1017, "protein_name": "Voltage-gated delayed rectifier potassium channel KCNH4", "gene_name": "KCNH4", "organism": "Human", "refseq_name": "voltage-gated delayed rectifier potassium channel KCNH4", "refseq_ac": "NP_036417", "gene_names_uniprotkb": "KCNH4", "gene_names_refseq": "BEC2; ELK1; KCNH4; Kv12.3", "protein_names_uniprotkb": "Voltage-gated delayed rectifier potassium channel KCNH4; BEC2; Brain-specific eag-like channel 2; ELK channel 1; ELK1; Ether-a-go-go-like potassium channel 1; Potassium voltage-gated channel subfamily H member 4; Voltage-gated potassium channel subunit Kv12.3", "protein_names_refseq": "ELK channel 1; brain-specific eag-like channel 2; ether-a-go-go K(+) channel family member; ether-a-go-go-like potassium channel 1; potassium channel, voltage gated eag related subfamily H, member 4; potassium voltage-gated channel, subfamily H (eag-related), member 4; voltage-gated delayed rectifier potassium channel KCNH4; voltage-gated potassium channel subunit Kv12.3", "tax_id": 9606, "disease": "", "pathway": " (hsa:23415); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "10455180;16959974;19913121;20393197;20628086;21231794;23481700;28228285;28489076;28832583;28904123;30429286;31844290;32387766;33298915;33912179;33936100;35051231;35580925", "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]; Pore-forming (alpha) subunit of a voltage-gated delayed rectifier (PubMed:10455180). Activates at more negative voltages, exhibits fast prepulse-independent activation kinetics and deactivates much more slowly, but shows no inactivation (By similarity)., [UniProtKB, UniProtKB, PubMed]; Voltage-gated potassium (Kv) 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. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. The gene is brain-specific, and located in the neocortex and the striatum. It may be involved in cellular excitability of restricted neurons in the central nervous system. [provided by RefSeq, Jul 2008]., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:0042391 regulation of membrane potential;GO:0006813 potassium ion transport;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9UQ05-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MTL0-1", "uniprot_id": "IQCF5_HUMAN", "mass": 18048.0, "length": 148, "protein_name": "IQ domain-containing protein F5", "gene_name": "IQCF5", "organism": "Human", "refseq_name": "IQ domain-containing protein F5", "refseq_ac": "NP_001138531", "gene_names_uniprotkb": "IQCF5", "gene_names_refseq": "IQCF5", "protein_names_uniprotkb": "IQ domain-containing protein F5", "protein_names_refseq": "IQ domain-containing protein F5", "tax_id": 9606, "disease": "", "pathway": " (hsa:389124)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "30410026;32582212", "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:0005516 calmodulin binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A8MTL0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BQ31-1", "uniprot_id": "KCNS3_HUMAN", "mass": 56001.0, "length": 491, "protein_name": "Delayed-rectifier potassium channel regulatory subunit KCNS3", "gene_name": "KCNS3", "organism": "Human", "refseq_name": "delayed-rectifier potassium channel regulatory subunit KCNS3", "refseq_ac": "NP_001269357", "gene_names_uniprotkb": "KCNS3", "gene_names_refseq": "KCNS3; KV9.3", "protein_names_uniprotkb": "Delayed-rectifier potassium channel regulatory subunit KCNS3; Delayed-rectifier K(+) channel alpha subunit 3; Delayed-rectifier potassium channel subunit Kv9.3; Kv9.3; Potassium voltage-gated channel subfamily S member 3", "protein_names_refseq": "Shab-related delayed-rectifier K+ channel alpha subunit 3; delayed-rectifier K(+) channel alpha subunit 3; delayed-rectifier potassium channel regulatory subunit KCNS3; delayed-rectifier potassium channel subunit Kv9.3; potassium voltage-gated channel delayed-rectifier protein S3; potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3; voltage-gated potassium channel protein Kv9.3; voltage-gated potassium channel subunit Kv9.3", "tax_id": 9606, "disease": "", "pathway": " (hsa:3790); (R-HSA-1296072); (R-HSA-381676)", "pathway_count": 3, "publication_count": 50, "publication_id_list": "10318832;10484328;11071853;11237011;12034449;12180908;12401793;12410638;12475787;12496249;12938160;13680124;14988243;15569269;15714333;15827117;15955806;15995848;16613879;16973695;17095603;17306374;17444618;17900700;18202100;18287102;18412318;18577758;19859570;19861722;20393197;20876197;21231794;22422395;22943705;24170294;26308095;29393594;31154438;33968037;34352340;35051231;7589461;8138058;8404634;8405712;8830891;9417641;9488697;9920805", "class_list": "", "function": "Association analysis and polygenic risk score evaluation of 38 GWAS-identified Loci in a Chinese population with Parkinson's disease., [RefSeq, PubMed]; By in situ hybridization, KCNS3 mRNA levels were 23% lower in schizophrenia subjects than in controls. At the cellular level, both KCNS3 mRNA-expressing neuron density and KCNS3 mRNA level per neuron were significantly lower., [RefSeq, PubMed]; Formation of heteromeric Kv2.1/Kv9.3 channels of fixed stoichiometry consisting of three Kv2.1 subunits and one Kv9.3 subunit, [RefSeq, PubMed]; Our findings suggest that SNPs located at the 3' downstream region of KCNS3 have a significant role in the etiology of AHR. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Potassium channel regulatory subunit that modulates the delayed rectifier potassium channel activity of KCNB1 by namely slowing down the deactivation and inactivation time constants (PubMed:10484328). While it does not form functional channel on its own, it can form functional heterotetrameric channels with KCNB1 (PubMed:10484328)., [UniProtKB, PubMed]; Stromatoxin-1 -sensitive KV2-containing channels are expressed in detrusor smooth muscle (DSM); they control DSM excitability, intracellular Ca2+ levels, and myogenic and nerve-evoked contractions, [RefSeq, PubMed]; Study concluded that potassium voltage-gated channel K(V)9.3 is localised to human placental vascular tissues and syncytiotrophoblast, [RefSeq, PubMed]; There is evidence of heteromultimeric Kv2.1/Kv9.3 channel expression in control of middle cerebral arterial diameter., [RefSeq, PubMed]; Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "D6W520;O43651;Q4ZFY1;Q96B56", "ec_number_list": "", "go_molecular_function": "GO:0005251 delayed rectifier potassium channel activity;GO:0015459 potassium channel regulator activity;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:1901379 regulation of potassium ion transmembrane transport;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": 5.1, "record_id": "Q9BQ31-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6NV74-1", "uniprot_id": "CRCDL_HUMAN", "mass": 102157.0, "length": 962, "protein_name": "CRACD-like protein", "gene_name": "CRACDL", "organism": "Human", "refseq_name": "CRACD-like protein", "refseq_ac": "NP_997245", "gene_names_uniprotkb": "CRACDL; C2orf55; KIAA1211L", "gene_names_refseq": "C2orf55; CRACDL; KIAA1211L", "protein_names_uniprotkb": "CRACD-like protein", "protein_names_refseq": "CRACD-like protein; KIAA1211 like; uncharacterized protein C2orf55", "tax_id": 9606, "disease": "", "pathway": " (hsa:343990)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;17081983;23186163;30379171;30429286;32005204;32938616;35051231;35254053;36010968", "class_list": "", "function": "Stratified analyses of genome wide association study data reveal haplotypes for a candidate gene on chromosome 2 (KIAA1211L) is associated with opioid use in patients of Arabian descent. 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": 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": 16, "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_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q6NV74-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92613-1", "uniprot_id": "JADE3_HUMAN", "mass": 93808.0, "length": 823, "protein_name": "Protein Jade-3", "gene_name": "JADE3", "organism": "Human", "refseq_name": "protein Jade-3", "refseq_ac": "NP_001070913", "gene_names_uniprotkb": "JADE3; KIAA0215; PHF16", "gene_names_refseq": "JADE-3; JADE3; PHF16", "protein_names_uniprotkb": "Protein Jade-3; Jade family PHD finger protein 3; PHD finger protein 16", "protein_names_refseq": "PHD finger protein 16; jade family PHD finger protein 3; protein Jade-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:9767); (R-HSA-3214847)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10775800;10786633;10821277;11237011;14612400;15302935;15313887;16387653;16964243;17081983;18220336;18381289;18452278;18623064;18669648;19187765;19413330;19608861;19651622;19664995;19690332;20018852;20058876;20068231;21406692;22645359;23186163;23481700;26024233;26992070;27846572;27862975;27920218;28218747;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29660380;30315122;30410026;30429286;31154438;31530632;31844290;31848261;32157095;32357974;32502341;32938616;33141586;33592498;33633747;33691108;33968037;33981976;34171305;35051231;35494241;38462163;9427644;9558366;9880483", "class_list": "", "function": "Genome-wide CRISPR activation screen identifies JADE3 as an antiviral activator of NF-kB-dependent IFITM3 expression., [RefSeq, PubMed]; JADE3 was markedly upregulated in colon cancer tissues and correlated with cancer progression and predicted shorter patient survival. JADE3 interacted with the promoters of LGR5 and activated its transcription, by increasing the occupancy of p300 acetyltransferase and histone acetylation on the promoters. These findings suggest an oncogenic role of JADE3 by regulating cancer stem cell-like traits in the colon cancer., [RefSeq, PubMed]; Scaffold subunit of some HBO1 complexes, which have a histone H4 acetyltransferase activity., [UniProtKB, PubMed]; This gene encodes a member of a family of large proteins containing PHD (plant homeo domain)-type zinc fingers. The encoded protein may be associated in a nuclear complex that functions in histone H4 acetylation. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 13, "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": "Q6IE79", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0140566 histone reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000123 histone acetyltransferase complex", "go_biological_process": "GO:2000278 regulation of DNA biosynthetic process;GO:0006338 chromatin remodeling;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006275 regulation of DNA replication;GO:0051726 regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q92613-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P19013-1", "uniprot_id": "K2C4_HUMAN", "mass": 56144.0, "length": 520, "protein_name": "Keratin, type II cytoskeletal 4", "gene_name": "KRT4", "organism": "Human", "refseq_name": "keratin, type II cytoskeletal 4", "refseq_ac": "NP_002263", "gene_names_uniprotkb": "KRT4; CYK4", "gene_names_refseq": "CK-4; CK4; CYK4; K4; KRT4; WSN1", "protein_names_uniprotkb": "Keratin, type II cytoskeletal 4; CK-4; Cytokeratin-4; K4; Keratin-4; Type-II keratin Kb4", "protein_names_refseq": "cytokeratin 4; keratin 4, type II; keratin, type II cytoskeletal 4; type-II keratin Kb4", "tax_id": 9606, "disease": "white sponge nevus (Disease Ontology:DOID:0050448); white sponge nevus 1 (Disease Ontology:DOID:0081287)", "pathway": " (hsa:3851); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 66, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10652003;10771479;11237011;11350120;11380615;11590230;12828738;12902340;15033990;15337775;15373777;15797384;15803139;16061697;16382671;16639001;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;2414304;2452170;25208914;25926655;26390218;32157095;32161166;32938616;33717175;34087483;34211107;35051231;35580925;35707935;36553451;36811004;37217939;38253038;41018975;7543090;7684424;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "Negative regulation of miR-1288-3p/KRT4 axis through a circular RNA in oral cancer., [RefSeq, PubMed]; Splice site m[6]A methylation prevents binding of DGCR8 to suppress KRT4 pre-mRNA splicing in oral squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Structural component of intermediate filaments in mucosal stratified squamous epithelia. Forms heteropolymers with the type I keratin KRT13, assembling into keratin intermediate filament networks that provides structural integrity and mechanical stability of the mucosal epithelium., [UniProtKB, 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 differentiated layers of the mucosal and esophageal epithelia with family member KRT13. Mutations in these genes have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]., [RefSeq]; White Sponge Nevus Caused by Keratin 4 Gene Mutation: A Case Report. 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": 24, "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": "B4DRS2;F8VS64;Q6GTR8;Q96LA7;Q9BTL1", "ec_number_list": "", "go_molecular_function": "GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0009986 cell surface;GO:0005882 intermediate filament;GO:0045111 intermediate filament cytoskeleton", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0031424 keratinization;GO:0050680 negative regulation of epithelial cell proliferation;GO:0007010 cytoskeleton organization;GO:0045109 intermediate filament organization", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "P19013-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZWB6-1", "uniprot_id": "KCTD8_HUMAN", "mass": 52440.0, "length": 473, "protein_name": "BTB/POZ domain-containing protein KCTD8", "gene_name": "KCTD8", "organism": "Human", "refseq_name": "BTB/POZ domain-containing protein KCTD8", "refseq_ac": "NP_938167", "gene_names_uniprotkb": "KCTD8", "gene_names_refseq": "KCTD8", "protein_names_uniprotkb": "BTB/POZ domain-containing protein KCTD8", "protein_names_refseq": "BTB/POZ domain-containing protein KCTD8; potassium channel tetramerisation domain containing 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:386617)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;22156575;22930747;33968037;35051231;39023358", "class_list": "", "function": "Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G protein signaling of the receptors by accelerating onset and promoting desensitization (By similarity)., [UniProtKB]; Data indicate that median methylation levels of BCAN, HOXD1, KCTD8, KLF11, NXPH1, POU4F1, SIM1, and TCF7L1 were >/=30% higher than in normal samples, representing potential biomarkers for tumor diagnosis., [RefSeq, PubMed]; Epigenetic silencing of KCTD8 promotes hepatocellular carcinoma growth by activating PI3K/AKT signaling., [RefSeq, PubMed]; KCTD8 might modulate adverse effects of smoking during pregnancy on brain development via apoptosis triggered by low intracellular levels of potassium, possibly reducing the number of progenitor 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": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2RU39", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0048787 presynaptic active zone membrane;GO:0043235 receptor complex;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0008277 regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q6ZWB6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14990-1", "uniprot_id": "IPP2C_HUMAN", "mass": 22660.0, "length": 202, "protein_name": "Protein phosphatase inhibitor 2 family member C", "gene_name": "PPP1R2C", "organism": "Human", "refseq_name": "protein phosphatase inhibitor 2 family member C", "refseq_ac": "NP_079486", "gene_names_uniprotkb": "PPP1R2C; PPP1R2P9", "gene_names_refseq": "I-4; PPP1R2C; PPP1R2P9", "protein_names_uniprotkb": "Protein phosphatase inhibitor 2 family member C; I-4; PPP1R2 family member B; Protein phosphatase 1, regulatory subunit 2 pseudogene 9; Type-1 protein phosphatase inhibitor 4", "protein_names_refseq": "PPP1R2 family member B; PPP1R2C family member C; protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 9; protein phosphatase 1 regulatory inhibitor subunit 2-like 9; protein phosphatase inhibitor 2 family member C; putative type-1 protein phosphatase inhibitor 4; type 1 protein phosphatase inhibitor", "tax_id": 9606, "disease": "", "pathway": " (hsa:80316)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11076525;11883959;11948623;24195737;28411811;30379171", "class_list": "", "function": "A streamlined nomenclature for human primary regulators of type-1 protein phosphatase (PP1) genes and pseudogenes is proposed. Review article, [RefSeq, PubMed]; Functions as a protein phosphatase inhibitor. It inhibits activity of the catalytic subunit of PP1 and weakly inhibits the activity of myosin-associated phosphates., [UniProtKB, PubMed]; Inhibitor-1beta consisted of 132 amino acids of which the N-terminal 61 amino acid sequences were identical to inhibitor-1 while the sequence after residue-61 was markedly different., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": "Q5H958", "ec_number_list": "", "go_molecular_function": "GO:0004864 protein phosphatase inhibitor activity", "go_cellular_component": "", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "O14990-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60575-1", "uniprot_id": "ISK4_HUMAN", "mass": 9454.0, "length": 86, "protein_name": "Serine protease inhibitor Kazal-type 4", "gene_name": "SPINK4", "organism": "Human", "refseq_name": "serine protease inhibitor Kazal-type 4 precursor", "refseq_ac": "NP_055286", "gene_names_uniprotkb": "SPINK4", "gene_names_refseq": "HEL136; PEC-60; PEC60; SPINK4", "protein_names_uniprotkb": "Serine protease inhibitor Kazal-type 4; Peptide PEC-60 homolog", "protein_names_refseq": "epididymis luminal protein 136; gastrointestinal peptide; peptide PEC-60 homolog; serine protease inhibitor Kazal-type 4 precursor; serine protease inhibitor Kazal-type 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:27290)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;17333166;31888570;38747892", "class_list": "", "function": "Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; SPINK4 modulates inhibition of glycolysis against colorectal cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; This study shows that downregulated SPINK4 is associated with poor survival 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": 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": "Q2YDT7", "ec_number_list": "", "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0009410 response to xenobiotic stimulus", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "O60575-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P02533-1", "uniprot_id": "K1C14_HUMAN", "mass": 51561.0, "length": 472, "protein_name": "Keratin, type I cytoskeletal 14", "gene_name": "KRT14", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "KRT14", "gene_names_refseq": "", "protein_names_uniprotkb": "Keratin, type I cytoskeletal 14; CK-14; Cytokeratin-14; K14; Keratin-14", "protein_names_refseq": "", "tax_id": 9606, "disease": "generalized severe epidermolysis bullosa simplex 1A (Disease Ontology:DOID:0060735); epidermolysis bullosa simplex 1C (Disease Ontology:DOID:0080510); generalized intermediate epidermolysis bullosa simplex 1B (Disease Ontology:DOID:0080511); dermatopathia pigmentosa reticularis (Disease Ontology:DOID:0111342); Naegeli-Franceschetti-Jadassohn syndrome (Disease Ontology:DOID:0111528); epidermolysis bullosa simplex (Disease Ontology:DOID:4644); esophagus small cell carcinoma (Disease Ontology:DOID:7134)", "pathway": " (hsa:3861); (R-HSA-446107); (R-HSA-6805567); (R-HSA-6809371); (R-HSA-9725554); (R-HSA-9927432)", "pathway_count": 6, "publication_count": 159, "publication_id_list": "10066784;10196183;10231017;10411887;10583131;10588656;10637308;10730767;10733662;10771479;10811835;10820403;10852826;11350120;11380615;11590230;11684708;11710919;11724817;12067728;12443847;12482924;12603865;12624109;12655565;12707098;12802069;12902340;14654843;14987259;15033990;15140226;15234001;15337775;15373777;15556625;15675955;15780751;15797384;15803139;16061697;16297201;16382671;16639001;16786515;16882168;1691188;1694855;16960809;1714783;1717157;1720261;17330888;17515931;17521629;17562024;17596512;18691976;18843291;19190773;19194479;19242489;19924134;20112406;20166139;20179351;20657595;20667819;20940292;21375516;21439340;21654840;21997417;22705788;22735594;22832485;22967762;23283814;23481192;23629652;24029068;2414304;24794495;24940650;24981776;25208914;2580298;25926655;26340985;26375851;26390218;26432462;26758872;26768311;26853435;26992070;27452731;27543614;27726376;27798626;27862975;28228285;28411811;29314611;29393594;29557506;29786170;29789417;30524438;30905808;31399284;31611695;31844290;31995743;32157095;32179842;32350084;32357974;32387766;32488085;32502341;33214551;33633747;33912179;33968037;34019948;34078123;34087483;34171305;34357683;34509645;35051231;35580925;37938771;38665916;39990658;41018975;6186381;6210150;7506097;7506606;7526926;7526933;7527445;7543090;7561171;7682883;7688405;8601736;8824274;8999895;9284105;9395522;9457912;9468612;9565599;9804355;9804357;9989794", "class_list": "", "function": "Structural component of intermediate filaments in basal keratinocytes of stratified epithelia. Forms obligate heteropolymers with the type II keratin KRT5, contributing to the keratin intermediate filament network that confers mechanical strength and structural integrity to the basal layer of the epidermis and other stratified epithelial (PubMed:11724817, PubMed:1694855, PubMed:1720261). The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro (PubMed:11724817)., [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": 3, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 8, "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": "Q14715;Q53XY3;Q9BUE3;Q9UBN2;Q9UBN3;Q9UCY4", "ec_number_list": "", "go_molecular_function": "GO:1990254 keratin filament binding;GO:0005200 structural constituent of cytoskeleton;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0045178 basal part of cell", "go_biological_process": "GO:0045110 intermediate filament bundle assembly;GO:0008544 epidermis development;GO:0030216 keratinocyte differentiation;GO:0045109 intermediate filament organization;GO:0002009 morphogenesis of an epithelium", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "P02533-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DMQ5-1", "uniprot_id": "INAM2_HUMAN", "mass": 15439.0, "length": 153, "protein_name": "Putative transmembrane protein INAFM2", "gene_name": "INAFM2", "organism": "Human", "refseq_name": "putative transmembrane protein INAFM2", "refseq_ac": "NP_001288197", "gene_names_uniprotkb": "INAFM2; LINC00984; OGU1", "gene_names_refseq": "INAFM2; LINC00984; OGU1", "protein_names_uniprotkb": "Putative transmembrane protein INAFM2; InaF-motif-containing protein 2; Osteogenesis up-regulated transcript 1", "protein_names_refseq": "inaF-motif-containing protein 2; osteogenesis up-regulated transcript 1; osteogenesis upregulating transcript 1; putative transmembrane protein INAFM2", "tax_id": 9606, "disease": "", "pathway": " (hsa:100505573)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "19531736;30192525;31154438;31611695;31848261;33333222;34357683;35154160;35251023;38665916", "class_list": "", "function": "Interactive associations of the INAFM2 rs67839313 variant and egg consumption with type 2 diabetes mellitus and fasting blood glucose in a Chinese population: A family-based 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1.3, "record_id": "P0DMQ5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P27144-1", "uniprot_id": "KAD4_HUMAN", "mass": 25268.0, "length": 223, "protein_name": "Adenylate kinase 4, mitochondrial", "gene_name": "AK4", "organism": "Human", "refseq_name": "adenylate kinase 4, mitochondrial isoform a", "refseq_ac": "NP_001005353", "gene_names_uniprotkb": "AK4; AK3L1; AK3", "gene_names_refseq": "AK 4; AK3L1; AK3L2; AK3; AK4", "protein_names_uniprotkb": "Adenylate kinase 4, mitochondrial; 2.7.4.4; 2.7.4.6; Adenylate kinase 3-like; GTP:AMP phosphotransferase AK4", "protein_names_refseq": "ATP-AMP transphosphorylase; GTP:AMP phosphotransferase AK4, mitochondrial; adenylate kinase 3-like 1; adenylate kinase 4, mitochondrial isoform a; adenylate kinase 4, mitochondrial; adenylate kinase isoenzyme 4, mitochondrial; epididymis secretory sperm binding protein; mitochondrial adenylate kinase-3; nucleoside-triphosphate-adenylate kinase", "tax_id": 9606, "disease": "acute kidney tubular necrosis (Disease Ontology:DOID:12556)", "pathway": " (hsa:205); (R-HSA-499943)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "10215863;10453732;10618642;10716435;10799505;10884394;10899599;11237011;11277919;11278511;11485571;11517226;11796141;11912132;12972261;13211603;14729598;15630091;16179339;16373698;1639383;16756507;16820675;17320107;177353;17824959;18469;1851158;18635542;18997010;19073142;19130895;19176520;19220460;19766732;21080915;211388;211390;21654843;22645359;22847445;23416111;23474458;23481700;23739916;24767988;2542324;25505266;25880248;26024233;2656695;2668278;26758079;26811146;26980435;26992070;29493099;29557506;31154438;31217245;31611695;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32897882;32938616;32983136;33298915;33361582;33392160;33592498;33633747;33912179;33968037;34171305;34509645;34561969;34638712;34932366;35051231;35154160;36241641;39894887;40596516;40615;5484814;6182143;6248551;7685356;7851394;8448179;8663313;9488696;9677297", "class_list": "", "function": "Adenylate Kinase 4-A Key Regulator of Proliferation and Metabolic Shift in Human Pulmonary Arterial Smooth Muscle Cells via Akt and HIF-1alpha Signaling Pathways. Publication Status: Online-Only, [RefSeq, PubMed]; Broad-specificity mitochondrial nucleoside phosphate kinase involved in cellular nucleotide homeostasis by catalyzing nucleoside-phosphate interconversions (PubMed:19073142, PubMed:19766732, PubMed:23416111, PubMed:24767988). Similar to other adenylate kinases, preferentially catalyzes the phosphorylation of the nucleoside monophosphate AMP with ATP as phosphate donor to produce ADP (PubMed:19766732). Phosphorylates only AMP when using GTP as phosphate donor (PubMed:19766732). In vitro, can also catalyze the phosphorylation of CMP, dAMP and dCMP and use GTP as an alternate phosphate donor (PubMed:19766732, PubMed:23416111). Moreover, exhibits a diphosphate kinase activity, producing ATP, CTP, GTP, UTP, TTP, dATP, dCTP and dGTP from the corresponding diphosphate substrates with either ATP or GTP as phosphate donors (PubMed:23416111). Plays a role in controlling cellular ATP levels by regulating phosphorylation and activation of the energy sensor protein kinase AMPK (PubMed:24767988, PubMed:26980435). Plays a protective role in the cellular response to oxidative stress (PubMed:19130895, PubMed:23474458, PubMed:26980435)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; MiR-3666 serves as a tumor suppressor in ovarian carcinoma by down-regulating AK4 via targeting STAT3., [RefSeq, PubMed]; The AK4 cDNA was expressed in Escherichia coli and the substrate specificity and kinetic properties of the recombinant protein were characterized., [RefSeq, PubMed]; This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008]., [RefSeq]; To investigate the role of hinge IV, crystal structure of human adenylate kinase 4 (AK4) L171P mutant was determined., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2R927;D3DQ62;Q6IBH4;Q6NXQ5;Q8IUU9", "ec_number_list": "2.7.4.10;2.7.4.6;2.7.4.3;2.7.4.4;3.1.11.-;2.7.11.1;2.7.13.3;2.7.4.18;3.1.24.-;2.7.4.14", "go_molecular_function": "GO:0004017 AMP kinase activity;GO:0046899 nucleoside triphosphate adenylate kinase activity;GO:0050145 nucleoside monophosphate kinase activity;GO:0005524 ATP binding;GO:0005525 GTP binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0015949 nucleobase-containing small molecule interconversion;GO:0006172 ADP biosynthetic process;GO:0046033 AMP metabolic process;GO:0071456 cellular response to hypoxia;GO:0046034 ATP metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "P27144-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P48051-1", "uniprot_id": "KCNJ6_HUMAN", "mass": 48451.0, "length": 423, "protein_name": "G protein-activated inward rectifier potassium channel 2", "gene_name": "KCNJ6", "organism": "Human", "refseq_name": "G protein-activated inward rectifier potassium channel 2", "refseq_ac": "NP_002231", "gene_names_uniprotkb": "KCNJ6; GIRK2; KATP2; KCNJ7", "gene_names_refseq": "BIR1; GIRK-2; GIRK2; KATP-2; KATP2; KCNJ6; KCNJ7; KIR3.2; KPLBS; hiGIRK2", "protein_names_uniprotkb": "G protein-activated inward rectifier potassium channel 2; BIR1; GIRK-2; Inward rectifier K(+) channel Kir3.2; KATP-2; Potassium channel, inwardly rectifying subfamily J member 6", "protein_names_refseq": "G protein-activated inward rectifier potassium channel 2; inward rectifier K(+) channel Kir3.2; inward rectifier potassium channel KIR3.2; potassium channel, inwardly rectifying subfamily J, member 6; potassium voltage-gated channel subfamily J member 6", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); heroin dependence (Disease Ontology:DOID:9976); Keppen-Lubinsky syndrome (MONDO:MONDO:0013572)", "pathway": " (hsa:3763); (R-HSA-1296041); (R-HSA-997272)", "pathway_count": 3, "publication_count": 16, "publication_id_list": "10659995;14724209;17185339;20453851;20655490;23739333;24715725;25620207;32938616;35051231;36261449;37168492;7592809;7729621;7796919;9245502", "class_list": "", "function": "3.5 A resolution crystal structure of the mammalian GIRK2 channel in complex with betagamma G-protein subunits, the central signalling complex that links G-protein-coupled receptor stimulation to K(+) channel activity, [RefSeq, PubMed]; Association of KCNJ6 rs2070995 and methadone response for pain management in advanced cancer at end-of-life. Publication Status: Online-Only, [RefSeq, PubMed]; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This potassium channel may be involved in the regulation of insulin secretion by glucose and/or neurotransmitters acting through G protein-coupled receptors., [UniProtKB, PubMed, PubMed]; Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6., [RefSeq, PubMed]; L344 and G347 play an important functional role in G(betagamma) activation of GIRK2 channels., [RefSeq, PubMed]; Oxidation Driven Reversal of PIP2-dependent Gating in GIRK2 Channels. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3MJ74;Q53WW6", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0015467 G-protein activated inward rectifier potassium channel activity;GO:0005242 inward rectifier potassium channel activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:0006813 potassium ion transport;GO:1990573 potassium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P48051-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P48200-1", "uniprot_id": "IREB2_HUMAN", "mass": 105059.0, "length": 963, "protein_name": "Iron-responsive element-binding protein 2", "gene_name": "IREB2", "organism": "Human", "refseq_name": "iron-responsive element-binding protein 2 isoform 4", "refseq_ac": "NP_001307872", "gene_names_uniprotkb": "IREB2", "gene_names_refseq": "ACO3; IRE-BP 2; IRE-BP2; IREB2; IRP2AD; IRP2; NDCAMA", "protein_names_uniprotkb": "Iron-responsive element-binding protein 2; IRE-BP 2; IRP2; Iron regulatory protein 2", "protein_names_refseq": "iron regulatory protein 2; iron-responsive element-binding protein 2 isoform 4", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); iron deficiency anemia (Disease Ontology:DOID:11758); porphyria (Disease Ontology:DOID:13268); hyperinsulinism (Disease Ontology:DOID:2018); anemia (Disease Ontology:DOID:2355); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia (MONDO:MONDO:0032758)", "pathway": " (hsa:3658); (R-HSA-917937)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "10597293;11237011;11323407;12453412;12504026;12629548;12958161;14576842;15001581;15044468;15201052;15531878;15537541;16143108;16274220;16377569;16407072;16510471;18194661;18574241;18669648;1946430;19762596;19762597;20550936;2154449;2172968;23481700;23615448;23891004;25645385;25802875;25892735;26310313;26375851;26728094;27600516;27862975;28834231;29242379;29493099;29557506;29789417;30315122;30410026;30429286;30484775;30915432;31092671;31154438;31217245;31530632;31548259;31844290;32157095;32265295;32357974;32387766;32502341;32813008;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34561969;34932366;35051231;35561310;35580925;35599631;36010968;36241641;36284347;36600258;37938771;38253038;7622457;7983023;8041788;8695634", "class_list": "", "function": "IRP2-Hif1alpha/Hif2alpha signaling: a novel mechanism of metabolic switch from aerobic glycolysis to oxidative phosphorylation., [RefSeq, PubMed]; KLF14 regulates the growth of hepatocellular carcinoma cells via its modulation of iron homeostasis through the repression of iron-responsive element-binding protein 2. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-19a suppresses ferroptosis of colorectal cancer cells by targeting IREB2., [RefSeq, PubMed]; RNA-binding protein that binds to iron-responsive elements (IRES), which are stem-loop structures found in the 5'-UTR of ferritin, and delta aminolevulinic acid synthase mRNAs, and in the 3'-UTR of transferrin receptor mRNA. Binding to the IRE element in ferritin results in the repression of its mRNA translation. Binding of the protein to the transferrin receptor mRNA inhibits the degradation of this otherwise rapidly degraded mRNA., [UniProtKB, PubMed]; The protein encoded by this gene is an RNA-binding protein that acts to regulate iron levels in the cells by regulating the translation and stability of mRNAs that affect iron homeostasis under conditions when iron is depleted. When iron levels are low, this protein binds to iron-responsive elements (IRES), stem-loop structures located either in the 5' or 3' UTRs. Binding to the 5' UTR represses translation, while binding to the 3' UTR inhibits mRNA degradation. When iron is found in the cell, this protein is degraded in a F-box and leucine rich repeat protein 5-dependent manner. Variants in this gene have been associated with lung cancer and chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]., [RefSeq]; This study confirms that the IREB2 variants contribute to an increased risk of lung cancer, whereas FAM13A predisposes to increased susceptibility to chronic obstructive pulmonary 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 27, "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": "A0A0A6YY96;A8KAC7;E1CJT9;H0YKU0;Q13095;Q1HE21;Q59FQ7;Q8WVK6;Q9UF17", "ec_number_list": "", "go_molecular_function": "GO:0000900 mRNA regulatory element binding translation repressor activity;GO:0003723 RNA binding;GO:0003994 aconitate hydratase activity;GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0030316 osteoclast differentiation;GO:0048255 mRNA stabilization;GO:0006879 intracellular iron ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "P48200-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P48549-1", "uniprot_id": "KCNJ3_HUMAN", "mass": 56603.0, "length": 501, "protein_name": "G protein-activated inward rectifier potassium channel 1", "gene_name": "KCNJ3", "organism": "Human", "refseq_name": "G protein-activated inward rectifier potassium channel 1 isoform 2", "refseq_ac": "NP_001247437", "gene_names_uniprotkb": "KCNJ3; GIRK1", "gene_names_refseq": "GIRK1; KCNJ3; KGA; KIR3.1", "protein_names_uniprotkb": "G protein-activated inward rectifier potassium channel 1; GIRK-1; Inward rectifier K(+) channel Kir3.1; Potassium channel, inwardly rectifying subfamily J member 3", "protein_names_refseq": "G protein-activated inward rectifier potassium channel 1 isoform 2; G protein-activated inward rectifier potassium channel 1; GIRK-1; inward rectifier K(+) channel Kir3.1; inward rectifier K+ channel KIR3.1; potassium channel, inwardly rectifying subfamily J member 3; potassium voltage-gated channel subfamily J member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:3760); (R-HSA-1296041); (R-HSA-997272)", "pathway_count": 3, "publication_count": 19, "publication_id_list": "10659995;10889209;11237011;17185339;17924679;19151997;20453851;20655490;27835900;29393594;29557506;30240440;30764634;31848385;32541684;33592498;34087483;8804710;8868049", "class_list": "", "function": "A constricted opening in Kir channels does not impede potassium conduction. Publication Status: Online-Only, [RefSeq, PubMed]; GIRK1 triggers multiple cancer-related pathways in the benign mammary epithelial cell line MCF10A. Publication Status: Online-Only, [RefSeq, PubMed]; Gi/o-coupled muscarinic receptors co-localize with GIRK channel for efficient channel activation Publication Status: Online-Only, [RefSeq, PubMed]; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This potassium channel is controlled by G proteins (PubMed:8804710, PubMed:8868049). This receptor plays a crucial role in regulating the heartbeat (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Mutant KCNJ3 and KCNJ5 Potassium Channels as Novel Molecular Targets in Bradyarrhythmias and Atrial Fibrillation., [RefSeq, PubMed]; Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012]., [RefSeq]; These data suggest that patients with estrogen receptor positive breast cancer might be stratified into high risk and low risk groups based on the KCNJ3 levels in the tumor, [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": 5, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DEW7;Q8TBI0", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0086089 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization;GO:1902282 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization;GO:0015467 G-protein activated inward rectifier potassium channel activity;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0099508 voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential", "go_cellular_component": "GO:1902937 inward rectifier potassium channel complex;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0008076 voltage-gated potassium channel complex;GO:0030315 T-tubule", "go_biological_process": "GO:0098914 membrane repolarization during atrial cardiac muscle cell action potential;GO:0099625 ventricular cardiac muscle cell membrane repolarization;GO:0086091 regulation of heart rate by cardiac conduction;GO:0006813 potassium ion transport;GO:0051602 response to electrical stimulus", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "P48549-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49895-1", "uniprot_id": "IOD1_HUMAN", "mass": 28924.0, "length": 249, "protein_name": "Type I iodothyronine deiodinase", "gene_name": "DIO1", "organism": "Human", "refseq_name": "type I iodothyronine deiodinase isoform a", "refseq_ac": "NP_000783", "gene_names_uniprotkb": "DIO1; ITDI1; TXDI1", "gene_names_refseq": "5DI; DIO1; THMA2; TXDI1", "protein_names_uniprotkb": "Type I iodothyronine deiodinase; 1.21.99.3; 1.21.99.4; 5DI; DIOI; Type 1 DI; Type-I 5'-deiodinase", "protein_names_refseq": "DIOI; deiodinase, iodothyronine type I; iodothyronine deiodinase type 1; selenoprotein DIO1; thyroxine 5'-deiodinase; thyroxine deiodinase type I (selenoprotein); type 1 DI; type I iodothyronine deiodinase isoform a; type-I 5'-deiodinase", "tax_id": 9606, "disease": "thyroid gland disease (Disease Ontology:DOID:50); thyroid hormone metabolism, abnormal, 2 (MONDO:MONDO:0030839)", "pathway": " (hsa:1733); (R-HSA-350864)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "11237011;12586771;1400883;18339710;18821722;23462647;24714562;25892735;32718224;37563580;38365720;38429887;7593630;7651427", "class_list": "", "function": "A new mechanism of posttranscriptional regulation of DIO1 and show deregulation of DIO1 expression in pituitary adenoma, possibly resulting from disturbed expression of SF2/ASF., [RefSeq, PubMed]; A regulatory element associated to NAFLD in the promoter of DIO1 controls LDL-C, HDL-C and triglycerides in hepatic cells. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a crucial role in the metabolism of thyroid hormones (TH) and has specific roles in TH activation and inactivation by deiodination (PubMed:12586771, PubMed:32718224, PubMed:18821722). Catalyzes the deiodination of L-thyroxine (T4) to 3,5,3'-triiodothyronine (T3), 3,3',5'-triiodothyronine (rT3) to 3,3'-diiodothyronine (3,3'-T2) and 3',5'-diiodothyronine (3',5'-T2) to 3'-monoiodothyronine (3'-T1) via outer-ring deiodination (ORD) (PubMed:32718224, PubMed:18821722, PubMed:12586771, PubMed:18339710). Catalyzes the deiodination of T4 to 3,3',5'-triiodothyronine (rT3) via inner-ring deiodination (IRD) (PubMed:32718224). Catalyzes the deiodination of T3 to 3,3'-T2, 3,5-diiodothyronine (3,5-T2) to 3- monoiodothyronine (3-T1) and 3,3'-T2 to 3-T1 via IRD (By similarity). Catalyzes the phenolic ring deiodinations of 3,3',5'-triiodothyronamine and 3',5'-diiodothyronamine (PubMed:18339710). Catalyzes the phenolic ring deiodination of 3,3'-diiodothyronamine and tyrosyl ring deiodinations of 3,5,3'-triiodothyronamine and 3,5-diiodothyronamine (By similarity). Catalyzes the deiodination of L-thyroxine sulfate and 3,3',5-triiodo-L-thyronine sulfate via IRD and of 3,3',5'-triiodo-L-thyronine sulfate via ORD (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, PubMed]; Responsible for the deiodination of T4 (3,5,3',5'-tetraiodothyronine)., [UniProtKB, UniProtKB, UniProtKB]; SNP rs11185644 in RXRA gene and SNP rs2235544 in DIO1 gene predict dosage requirements in a cross-sectional sample of hypothyroid patients. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the activation, as well as the inactivation of thyroid hormone by outer and inner ring deiodination, respectively. The activation reaction involves the conversion of the prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4), secreted by the thyroid gland, to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by 5'-deiodination. This protein provides most of the circulating T3, which is essential for growth, differentiation and basal metabolism in vertebrates. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2018]., [RefSeq]; The selenoenzyme type I iodothyronine deiodinase: a new tumor suppressor in ovarian cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q1RN02;Q3KNP8;Q6Q4C1;Q6Q4C2;Q6Q4C3;Q6Q4C4;Q6Q4C5;Q6Q4C6;Q6Q4C7;Q6Q4C9;Q8WWC6", "ec_number_list": "1.21.99.3;1.21.99.4", "go_molecular_function": "GO:0033798 thyroxine 5-deiodinase activity;GO:0004800 thyroxine 5'-deiodinase activity;GO:0008430 selenium binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0042404 thyroid hormone catabolic process;GO:0042446 hormone biosynthetic process;GO:0006520 amino acid metabolic process;GO:0006590 thyroid hormone generation;GO:0042403 thyroid hormone metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "P49895-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P52333-1", "uniprot_id": "JAK3_HUMAN", "mass": 125099.0, "length": 1124, "protein_name": "Tyrosine-protein kinase JAK3", "gene_name": "JAK3", "organism": "Human", "refseq_name": "tyrosine-protein kinase JAK3", "refseq_ac": "NP_000206", "gene_names_uniprotkb": "JAK3", "gene_names_refseq": "JAK-3; JAK3_HUMAN; JAK3; JAKL; L-JAK; LJAK", "protein_names_uniprotkb": "Tyrosine-protein kinase JAK3; 2.7.10.2; JAK-3; Janus kinase 3; L-JAK; Leukocyte janus kinase", "protein_names_refseq": "Janus kinase 3 (a protein tyrosine kinase, leukocyte); leukocyte Janus kinase; tyrosine-protein kinase JAK3", "tax_id": 9606, "disease": "juvenile myelomonocytic leukemia (Disease Ontology:DOID:0050458); adult T-cell leukemia/lymphoma (Disease Ontology:DOID:0050523); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); janus kinase-3 deficiency (Disease Ontology:DOID:0060008); T-cell prolymphocytic leukemia (Disease Ontology:DOID:0081042); graft-versus-host disease (Disease Ontology:DOID:0081267); T-cell non-Hodgkin lymphoma (Disease Ontology:DOID:0081312); severe combined immunodeficiency 104 (Disease Ontology:DOID:0090014); disease of cellular proliferation (Disease Ontology:DOID:14566); cancer (Disease Ontology:DOID:162); hematologic cancer (Disease Ontology:DOID:2531); T-cell acute lymphoblastic leukemia (Disease Ontology:DOID:5603); severe combined immunodeficiency (Disease Ontology:DOID:627); acute megakaryocytic leukemia (Disease Ontology:DOID:8761)", "pathway": " (hsa:3718); (R-HSA-1266695); (R-HSA-201556); (R-HSA-5673001); (R-HSA-6785807); (R-HSA-8854691); (R-HSA-8983432); (R-HSA-8985947); (R-HSA-9020558); (R-HSA-9020958); (R-HSA-912526); (R-HSA-9679191)", "pathway_count": 12, "publication_count": 457, "publication_id_list": "10023775;10087012;10207047;10219247;10358752;10369418;10455108;10508167;10510379;10562299;10570274;10586089;10825200;10867011;10869344;10875937;10899310;10919676;10982185;10982827;11016959;11027663;11058569;11084045;11090077;11104795;11110708;11120780;11121404;11136978;11163236;11196675;11278437;11278720;11278729;11280786;11306517;11313946;11340297;11356008;11390453;11390454;11404481;11418623;11418668;11463377;11481447;11546808;11564763;11564764;11607835;11702783;11706020;11728342;11751994;11850821;11909529;11960372;12032311;12087100;12093291;12094235;12121613;12122009;12184921;12200137;12223527;12242343;12244150;12351624;12351625;12424201;12433361;12469119;12517932;12600988;12623850;12759422;12832402;12889071;12934099;1376929;14506247;14563642;14580208;14593182;14615376;14634100;1465135;14707138;14712222;14764663;14962911;15116091;15120653;15121872;15166220;15178252;15178681;15226403;15261459;1526987;15317731;15353558;15356145;15374880;1545823;15546878;15584925;15588951;15592455;15749844;15805299;15831699;15869882;15895073;15919823;15938644;15950906;16007214;16048438;16107692;16115318;16153455;16170336;16205632;16212621;16236134;16317043;16397018;16451196;16477002;16510571;16522641;16540365;16606674;1662392;16627759;16684964;16750817;16825495;16871283;16878150;16939498;16982608;17086210;1716764;17185414;17274988;17344846;17353907;17427945;17458857;17572495;17662961;17681947;17878297;17998941;18070884;18097461;18243101;18250158;18353781;18447642;18591661;18599299;18644974;18669613;18724359;18775330;18830264;18923524;18941194;1898771;18990089;19124156;19185846;19279408;19290934;19397496;19457860;19459784;19535621;19781647;19864382;19901323;19920141;20169197;20223979;20440074;20462497;20478380;20493732;20632993;20671117;20719933;20966397;21098725;21102457;21102635;21105711;21154129;21252155;21345110;21372320;21439476;21599579;21689689;21730069;21779497;21779505;21937440;21993244;21994466;22046235;22162641;22205702;22286764;22299025;22383755;22401777;22439933;22464331;22552008;22569528;22589270;22693070;22750304;22802649;22814904;22851691;22962576;23086340;23103841;23124025;23172665;2317865;23201355;23239810;23303910;23443682;23455323;23481700;23555662;23575685;23641311;23889739;23967200;24060861;24097101;24106086;24272870;24356251;24366607;24417533;24584101;24670165;24714562;24715725;24736079;24737791;24743777;24897931;24937142;24947326;24965108;25004819;25219551;25234944;25297818;25331893;25342631;25418920;25421750;25505266;25576301;25781681;25801024;25880248;25892735;26002965;26085527;26124282;26154972;26301565;26418745;26464158;26630010;26708155;26758079;26811146;26929215;26974155;26992070;27133025;27423467;27555492;27774606;27780853;27846572;27862975;27920218;28063628;28218747;28228285;28425720;28458652;28778966;28832583;28834231;28904123;29139090;29242379;29380702;29393594;29437277;29455642;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;29873274;29945920;29964125;30061385;30201761;30315122;30410026;30429286;30524438;30692217;31048504;31135801;31154438;31530632;31585938;31844290;31848261;31918398;31937595;31998317;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33633747;33717175;33912179;33936100;33968037;34211107;34357683;34561969;34646012;34819673;35051231;35580925;36215666;36284347;36477533;36581221;37876297;38095643;38253038;38474223;38598033;40914422;6148751;7489741;7499411;7510216;7512451;7514277;7529288;7535338;7543512;7559633;7568001;7600304;7641685;7659163;7662955;7718508;7719938;7775604;7795521;7796300;7809086;7898939;7907877;7935463;7972015;7973658;8022485;8022790;8052307;8084588;8085155;8128231;8266077;8294403;8394845;8493579;8530383;8602263;8621622;8631883;8633037;8643566;8662778;8663118;8665852;8668165;8700888;8702919;8709637;8710374;8756628;8797861;8816495;8830676;8921370;8939933;9013879;9030599;9099679;9108392;9126349;9233603;9354668;9391116;9398404;9512511;9535918;9553136;9604935;9651359;9715265;9723655;9736340;9753072;9819383;9822675;9874564;9885561;9927426", "class_list": "", "function": "Conjoint research of WGCNA, single-cell transcriptome and structural biology reveals the potential targets of IDD development and treatment and JAK3 involvement., [RefSeq, PubMed]; Dependence of peripheral T-cell lymphoma on constitutively activated JAK3: Implication for JAK3 inhibition as a therapeutic approach., [RefSeq, PubMed]; Janus Kinase 3 (JAK3): A Critical Conserved Node in Immunity Disrupted in Immune Cell Cancer and Immunodeficiency. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Non-receptor tyrosine kinase involved in various processes such as cell growth, development, or differentiation. Mediates essential signaling events in both innate and adaptive immunity and plays a crucial role in hematopoiesis during T-cells development. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors sharing the common subunit gamma such as IL2R, IL4R, IL7R, IL9R, IL15R and IL21R. Following ligand binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins. Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. For example, upon IL2R activation by IL2, JAK1 and JAK3 molecules bind to IL2R beta (IL2RB) and gamma chain (IL2RG) subunits inducing the tyrosine phosphorylation of both receptor subunits on their cytoplasmic domain. Then, STAT5A and STAT5B are recruited, phosphorylated and activated by JAK1 and JAK3. Once activated, dimerized STAT5 translocates to the nucleus and promotes the transcription of specific target genes in a cytokine-specific fashion., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [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": 12, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 68, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 14, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q13259;Q13260;Q13611;Q8N1E8;Q99699;Q9Y6S2", "ec_number_list": "2.7.1.153;2.7.1.137;2.7.12.2;2.7.10.1;3.1.3.86;2.7.10.2;2.7.11.1;2.7.12.1;3.6.5.2;2.7.1.40;3.1.3.48;2.7.1.32;2.7.1.82;2.7.10.4;2.7.11.13;2.7.11.17;2.7.11.23;3.1.3.56;3.1.3.36", "go_molecular_function": "GO:0004713 protein tyrosine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0019903 protein phosphatase binding;GO:0005131 growth hormone receptor binding", "go_cellular_component": "GO:0005768 endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0031234 extrinsic component of cytoplasmic side of plasma membrane;GO:0019897 extrinsic component of plasma membrane", "go_biological_process": "GO:0035771 interleukin-4-mediated signaling pathway;GO:0038110 interleukin-2-mediated signaling pathway;GO:0070669 response to interleukin-2;GO:0071104 response to interleukin-9;GO:0032693 negative regulation of interleukin-10 production", "synthesized_glycan_count": 0, "hit_score": 46.0, "record_id": "P52333-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P63252-1", "uniprot_id": "KCNJ2_HUMAN", "mass": 48288.0, "length": 427, "protein_name": "Inward rectifier potassium channel 2", "gene_name": "KCNJ2", "organism": "Human", "refseq_name": "inward rectifier potassium channel 2", "refseq_ac": "NP_000882", "gene_names_uniprotkb": "KCNJ2; IRK1", "gene_names_refseq": "ATFB9; HHBIRK1; HHIRK1; IRK1; KCNJ2; KIR2.1; LQT7; SQT3", "protein_names_uniprotkb": "Inward rectifier potassium channel 2; Cardiac inward rectifier potassium channel; IRK-1; Inward rectifier K(+) channel Kir2.1; Potassium channel, inwardly rectifying subfamily J member 2; hIRK1", "protein_names_refseq": "IRK-1; cardiac inward rectifier potassium channel; hIRK1; inward rectifier K+ channel KIR2.1; inward rectifier potassium channel 2; potassium channel, inwardly rectifying subfamily J, member 2; potassium voltage-gated channel subfamily J member 2", "tax_id": 9606, "disease": "Andersen-Tawil syndrome (Disease Ontology:DOID:0050434); familial atrial fibrillation (Disease Ontology:DOID:0050650); short QT syndrome (Disease Ontology:DOID:0050793); atrial fibrillation (Disease Ontology:DOID:0060224); EAST syndrome (Disease Ontology:DOID:0060484); familial periodic paralysis (Disease Ontology:DOID:1029); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:3759); (R-HSA-1296041); (R-HSA-1296053); (R-HSA-5576886); (R-HSA-9729555); (R-HSA-997272)", "pathway_count": 6, "publication_count": 40, "publication_id_list": "11240146;11371347;11991952;12032359;12148092;12163457;15761194;15795311;15922306;16382106;16571646;17185339;17324964;17652773;18083107;19608980;20393194;20453851;20655490;21209095;25502872;28411811;29371428;32387766;32983136;33043033;34357683;35051231;35561310;36149965;37184279;38261726;38672523;38683369;7590287;7696590;7840300;8821791;9490857;9533862", "class_list": "", "function": "Activation of Kir2.1 improves myocardial fibrosis by inhibiting Ca [2+] overload and the TGF-beta1/Smad signaling pathway., [RefSeq, PubMed]; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it (PubMed:36149965, PubMed:7590287, PubMed:9490857). Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages (PubMed:7590287, PubMed:7696590). The inward rectification is mainly due to the blockage of outward current by internal magnesium (PubMed:9490857). Can be blocked by extracellular barium or cesium (PubMed:7590287, PubMed:7696590). Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues (PubMed:7590287, PubMed:7696590, PubMed:7840300)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report. Publication Status: Online-Only, [RefSeq, PubMed]; Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]., [RefSeq]; The Kir2.1E299V mutation increases atrial fibrillation vulnerability while protecting the ventricles against arrhythmias in a mouse model of short QT syndrome type 3., [RefSeq, PubMed]; The network of cardiac KIR2.1: its function, cellular regulation, electrical signaling, diseases and new drug avenues. 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": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 21, "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": "O15110;P48049", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0086008 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0042802 identical protein binding;GO:0005242 inward rectifier potassium channel activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043025 neuronal cell body;GO:0043197 dendritic spine", "go_biological_process": "GO:0086011 membrane repolarization during action potential;GO:0014861 regulation of skeletal muscle contraction via regulation of action potential;GO:0051289 protein homotetramerization;GO:0060306 regulation of membrane repolarization;GO:0086013 membrane repolarization during cardiac muscle cell action potential", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "P63252-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P78414-1", "uniprot_id": "IRX1_HUMAN", "mass": 49621.0, "length": 480, "protein_name": "Iroquois-class homeodomain protein IRX-1", "gene_name": "IRX1", "organism": "Human", "refseq_name": "iroquois-class homeodomain protein IRX-1", "refseq_ac": "NP_077313", "gene_names_uniprotkb": "IRX1; IRXA1", "gene_names_refseq": "IRX-5; IRX1; IRXA1", "protein_names_uniprotkb": "Iroquois-class homeodomain protein IRX-1; Homeodomain protein IRXA1; Iroquois homeobox protein 1", "protein_names_refseq": "homeodomain protein IRXA1; iroquois homeobox protein 1; iroquois-class homeodomain protein IRX-1", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:79192); (R-HSA-9831926)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "18421076;18559491;19240061;29242379;31844290;32157095;32200543;33069783;35051231;35318648;35328612;36010968;37116364;37828025", "class_list": "", "function": "ADRA2A and IRX1 are putative risk genes for Raynaud's phenomenon. Publication Status: Online-Only, [RefSeq, PubMed]; Frequent methylation of IRX1 gene is associated with head and neck squamous cell carcinoma, [RefSeq, PubMed]; HOXA9/IRX1 expression pattern defines two subgroups of infant MLL-AF4-driven acute lymphoblastic leukemia., [RefSeq, PubMed]; IRX1 is a novel gene, overexpressed in high-grade IDH-mutant astrocytomas., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Prognostic value of Iroquois homeobox 1 methylation in non-small cell lung cancers., [RefSeq, PubMed]; The Hematopoietic TALE-Code Shows Normal Activity of IRX1 in Myeloid Progenitors and Reveals Ectopic Expression of IRX3 and IRX5 in Acute Myeloid Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the Iroquois homeobox protein family. Homeobox genes in this family are involved in pattern formation in the embryo. The gene product has been identified as a tumor suppressor in gastric (PMID: 21602894, 20440264) and head and neck cancers (PMID: 18559491). A pseudogene of this gene is located on chromosome 13. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 25, "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": "Q7Z2F8;Q8N312", "ec_number_list": "", "go_molecular_function": "GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0072086 specification of loop of Henle identity;GO:0072272 proximal/distal pattern formation involved in metanephric nephron development;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "P78414-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15181-1", "uniprot_id": "IPYR_HUMAN", "mass": 32660.0, "length": 289, "protein_name": "Inorganic pyrophosphatase", "gene_name": "PPA1", "organism": "Human", "refseq_name": "inorganic pyrophosphatase", "refseq_ac": "NP_066952", "gene_names_uniprotkb": "PPA1; IOPPP; PP", "gene_names_refseq": "HEL-S-66p; IOPPP; PP1; PPA1; PP; SID6-8061", "protein_names_uniprotkb": "Inorganic pyrophosphatase; 3.6.1.1; PPase; Pyrophosphate phospho-hydrolase", "protein_names_refseq": "PPase; cytosolic inorganic pyrophosphatase; diphosphate phosphohydrolase; epididymis secretory sperm binding protein Li 66p; inorganic diphosphatase 1; inorganic pyrophosphatase; pyrophosphatase (inorganic) 1; pyrophosphatase 1; pyrophosphate phospho-hydrolase", "tax_id": 9606, "disease": "myocarditis (Disease Ontology:DOID:820)", "pathway": " (hsa:5464); (R-HSA-379716); (R-HSA-71737)", "pathway_count": 3, "publication_count": 127, "publication_id_list": "10.1101/2023.09.13.557529;10542310;10931946;11237011;11347887;11714285;11829477;11858721;12690580;12801912;1373391;14660560;14671330;16055448;16429158;16430861;16906134;16959974;1761529;19608861;20068231;22223895;23301498;23481700;24714562;24715725;25502872;25505266;25576301;25645385;25880248;25892735;26154972;26375851;26728094;26992070;27397612;27600516;27846572;27862975;27918433;27920218;28228285;28467828;28514659;28832583;28855257;28904123;29242379;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30030002;30315122;30410026;30484775;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32350084;32357974;32488085;32502341;32870666;32938616;32983136;33036755;33214551;33583053;33592498;33633747;33936100;33968037;33981976;33991172;34019948;34171305;34229054;34357683;34433824;34561969;34634305;34725712;35051231;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37141926;37938771;38136612;38428647;38665916;40914422;4130389;41350704;6022858;656444;7118399;7654687;8052601;8078941;8188258;8428657;8449960;9278442;9421509;9431993", "class_list": "", "function": "Basolateral protein Scribble binds phosphatase PP1 to establish a signaling network maintaining apicobasal polarity., [RefSeq, PubMed]; Catalyzes the hydrolysis of inorganic diphosphate into two phosphate molecules (PubMed:33036755, PubMed:38428647). Has MAP kinase serine/threonine phosphatase activity toward c-Jun N-terminal kinase (JNK) and, in neuronal cells, is involved in the negative regulation of neurite growth via JNK dephosphorylation (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Inorganic pyrophosphatase 1 activates the phosphatidylinositol 3-kinase/Akt signaling to promote tumorigenicity and stemness properties in colorectal cancer., [RefSeq, PubMed]; PHI-1, an Endogenous Inhibitor Protein for Protein Phosphatase-1 and a Pan-Cancer Marker, Regulates Raf-1 Proteostasis. Publication Status: Online-Only, [RefSeq, PubMed]; PP1, PKA and DARPP-32 in breast cancer: A retrospective assessment of protein and mRNA expression., [RefSeq, PubMed]; Structural and biochemical characterization of active sites mutant in human inorganic pyrophosphatase., [RefSeq, PubMed]; The protein encoded by this gene is a member of the inorganic pyrophosphatase (PPase) family. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Studies of a similar protein in bovine suggested a cytoplasmic localization of this enzyme. [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": 6, "reported_glycation": 0, "reported_snv": 8, "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": "Q2M348;Q5SQT7;Q6P7P4;Q9UQJ5;Q9Y5B1", "ec_number_list": "3.1.3.1;3.9.1.1;3.6.1.1;3.1.3.-", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004427 inorganic diphosphate phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006796 phosphate-containing compound metabolic process", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "Q15181-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16322-1", "uniprot_id": "KCA10_HUMAN", "mass": 57785.0, "length": 511, "protein_name": "Potassium voltage-gated channel subfamily A member 10", "gene_name": "KCNA10", "organism": "Human", "refseq_name": "potassium voltage-gated channel subfamily A member 10", "refseq_ac": "NP_005540", "gene_names_uniprotkb": "KCNA10", "gene_names_refseq": "KCNA10; Kcn1; Kv1.8", "protein_names_uniprotkb": "Potassium voltage-gated channel subfamily A member 10; Voltage-gated potassium channel subunit Kv1.8", "protein_names_refseq": "cyclic GMP gated potassium channel; potassium channel, voltage gated shaker related subfamily A, member 10; potassium voltage-gated channel subfamily A member 10; potassium voltage-gated channel, shaker-related subfamily, member 10; voltage-gated potassium channel subunit Kv1.8", "tax_id": 9606, "disease": "episodic ataxia type 1 (Disease Ontology:DOID:0050989); epilepsy (Disease Ontology:DOID:1826); vestibular disease (Disease Ontology:DOID:3426)", "pathway": " (hsa:3744); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "10836990;12060596;12444201;16959974;19913121;20393197;20628086;21231794;28904123;32502341;33592498;36696070;9177773", "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]; KCNA10 in human proximal tubular cells, glomerular and vascular endothelial cells, and also in vascular smooth muscle cells., [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]; 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 is specifically regulated by cGMP and postulated to mediate the effects of substances that increase intracellular cGMP. This gene is intronless, and the gene is clustered with genes KCNA2 and KCNA3 on chromosome 1. [provided by RefSeq, Jul 2008]., [RefSeq]; Voltage-gated potassium ion channel that mediates K(+) permeability of excitable membranes. When opened in response to the voltage difference across the membrane, KCNA10 channel selectively allows the flow of potassium ions across the membrane down their electrochemical gradient., [UniProtKB, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "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": "", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005251 delayed rectifier potassium channel activity;GO:0005249 voltage-gated potassium channel activity;GO:0005221 intracellularly cyclic nucleotide-activated monoatomic cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;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": 1.4, "record_id": "Q16322-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q1W4C9-1", "uniprot_id": "ISK13_HUMAN", "mass": 11051.0, "length": 94, "protein_name": "Serine protease inhibitor Kazal-type 13", "gene_name": "SPINK13", "organism": "Human", "refseq_name": "serine protease inhibitor Kazal-type 13 precursor", "refseq_ac": "NP_001035218", "gene_names_uniprotkb": "SPINK13; HBVDNAPTP1; SPINK5L3", "gene_names_refseq": "HBVDNAPTP1; HESPINTOR; LiESP6; SPINK13; SPINK5L3", "protein_names_uniprotkb": "Serine protease inhibitor Kazal-type 13; Hepatitis B virus DNA polymerase transactivated serine protease inhibitor; Hespintor; Serine protease inhibitor Kazal-type 5-like 3", "protein_names_refseq": "Hepatitis B Virus (HBV) DNA polymerase transactivated protein 1; hepatitis B virus DNA polymerase transactivated human serine protease inhibitor; hepatitis B virus DNA polymerase transactivated serine protease inhibitor; serine peptidase inhibitor, Kazal type 13 (putative); serine protease inhibitor Kazal-type 13 precursor; serine protease inhibitor Kazal-type 13; serine protease inhibitor Kazal-type 5-like 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:153218)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "29439245;30862605;31825950;34171305;36241641", "class_list": "", "function": "Gene set enrichment analysis (GSEA) showed that SPINK13 expression was involved in complement, apical junction, epithelial-mesenchymal transition (EMT), glycolysis, hypoxia, and inflammation signaling pathways. Publication Status: Online-Only, [RefSeq, PubMed]; May be a serine protease inhibitor (By similarity). Essential for sperm maturation and fertility. Inhibits sperm acrosome reaction, protecting sperm from premature reaction (By similarity)., [UniProtKB]; SPINK13 inhibited cell migration and epithelial to mesenchymal transition (EMT). SPINK13 was found to inhibit the expression of urokinase-type plasminogen activator (uPA), while recombinant uPA protein could reverse the inhibitory effect of SPINK13 on OC metastasis., [RefSeq, PubMed]; The results of the study indicated that SPINK13 could function as a promising therapeutic approach for patients with advanced hepatocellular carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A1A4Y2", "ec_number_list": "", "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:1902225 negative regulation of acrosome reaction", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q1W4C9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3KP66-1", "uniprot_id": "INAVA_HUMAN", "mass": 72914.0, "length": 663, "protein_name": "Innate immunity activator protein", "gene_name": "INAVA", "organism": "Human", "refseq_name": "innate immunity activator protein isoform 2", "refseq_ac": "NP_001136041", "gene_names_uniprotkb": "INAVA; C1orf106", "gene_names_refseq": "C1orf106; INAVA", "protein_names_uniprotkb": "Innate immunity activator protein", "protein_names_refseq": "innate immunity activator protein isoform 2; innate immunity activator protein; uncharacterized protein C1orf106", "tax_id": 9606, "disease": "inflammatory bowel disease 29 (Disease Ontology:DOID:0112155)", "pathway": " (hsa:55765)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;21983784;26811146;28436939;28832583;28904123;29420262;29508533;29786170;30379171;30833945;31022698;31844290;32387766;32502341;33592498;33717175;34171305;34251416;34509645;35051231;35580925;36010968;36284347", "class_list": "", "function": "Expressed in peripheral macrophages and intestinal myeloid-derived cells, is required for optimal PRR (pattern recognition receptor)-induced signaling, cytokine secretion, and bacterial clearance. Upon stimulation of a broad range of PRRs (pattern recognition receptor) such as NOD2 or TLR2, TLR3, TLR4, TLR5, TLR7 and TLR9, associates with YWHAQ/14-3-3T, which in turn leads to the recruitment and activation of MAP kinases and NF-kappa-B signaling complexes that amplifies PRR-induced downstream signals and cytokine secretion (PubMed:28436939). In the intestine, regulates adherens junction stability by regulating the degradation of CYTH1 and CYTH2, probably acting as substrate cofactor for SCF E3 ubiquitin-protein ligase complexes. Stabilizes adherens junctions by limiting CYTH1-dependent ARF6 activation (PubMed:29420262)., [UniProtKB, PubMed, PubMed]; Small-molecule modulators of INAVA cytosolic condensate and cell-cell junction assemblies., [RefSeq, PubMed]; Study identifies C1ORF106 as an epithelial cell junction protein, and the loss of C1ORF106 augments TNF-alpha-induced intestinal epithelial leakage and diarrhea that may play a critical role in the development of inflammatory bowel disease. 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": 0, "reported_mutagensis": 6, "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": "B4E1K9;E9PFY0;Q9NV65;Q9NVI0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016604 nuclear body", "go_biological_process": "GO:0070431 nucleotide-binding oligomerization domain containing 2 signaling pathway;GO:0002221 pattern recognition receptor signaling pathway;GO:1903409 reactive oxygen species biosynthetic process;GO:0043410 positive regulation of MAPK cascade;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q3KP66-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6IPM2-1", "uniprot_id": "IQCE_HUMAN", "mass": 77298.0, "length": 695, "protein_name": "IQ domain-containing protein E", "gene_name": "IQCE", "organism": "Human", "refseq_name": "IQ domain-containing protein E isoform 5", "refseq_ac": "NP_001274430", "gene_names_uniprotkb": "IQCE; KIAA1023", "gene_names_refseq": "1700028P05Rik; IQCE; PAPA7", "protein_names_uniprotkb": "IQ domain-containing protein E", "protein_names_refseq": "IQ domain-containing protein E isoform 5; IQ domain-containing protein E", "tax_id": 9606, "disease": "polydactyly, postaxial, type a7 (MONDO:MONDO:0060550)", "pathway": " (hsa:23288); (R-HSA-5635838)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10966113;11230166;11237011;14614827;14636583;15618519;15691767;16136078;16630821;16908539;17081983;17641202;17960137;18497258;18815277;19196978;19218434;19365551;19948480;20068231;20844016;20877624;21356043;21659505;21695114;22277298;22981989;22986504;23026747;23719536;23877428;24582806;24845016;24925320;26811146;27920218;28488682;29242379;29557506;30484775;31549751;31844290;32157095;32357974;32938616;33298915;33912179;33968037;34105348;35051231;35580925;37217939;39894887", "class_list": "", "function": "Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling (By similarity). Required for proper limb morphogenesis (PubMed:28488682)., [UniProtKB, UniProtKB, PubMed]; Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Required for proper limb morphogenesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Frameshift and a premature stop codon 22 in IQCE completely co-segregated with post-axial polydactyly phenotype within the family., [RefSeq, PubMed]; Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish., [RefSeq, PubMed]; 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": 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": 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": "Q4G0P7;Q6P7T4;Q9H0H7;Q9UPX7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0060170 ciliary membrane", "go_biological_process": "GO:0035108 limb morphogenesis", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q6IPM2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UXG2-1", "uniprot_id": "ELAP1_HUMAN", "mass": 111382.0, "length": 1013, "protein_name": "Endosome/lysosome-associated apoptosis and autophagy regulator 1", "gene_name": "ELAPOR1", "organism": "Human", "refseq_name": "endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform 2", "refseq_ac": "NP_001253977", "gene_names_uniprotkb": "ELAPOR1; EIG121; KIAA1324; PRO4985", "gene_names_refseq": "EIG121; ELAPOR1; KIAA1324", "protein_names_uniprotkb": "Endosome/lysosome-associated apoptosis and autophagy regulator 1; Estrogen-induced gene 121 protein", "protein_names_refseq": "endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform 2; estrogen-induced gene 121 protein; maba1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57535)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;12975309;16322283;16959974;20058876;21072319;23090970;24190977;26045166;26992070;28467828;29314611;29493099;29557506;29741879;32350084;33455017;33505018;33936100;34087483;34185709;34816763;35051231;35154160;36010968", "class_list": "", "function": "Down-regulation of KIAA1324 protein is associated with endometrial cancer, [RefSeq, PubMed]; ELAPOR1 is a secretory granule maturation-promoting factor that is lost during paligenosis., [RefSeq, PubMed]; Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]., [RefSeq]; Inceptor counteracts insulin signalling in beta-cells to control glycaemia. Erratum:[Nature. 2021 Apr;592(7852):E1. doi: 10.1038/s41586-021-03347-z. PMID: 33712809], [RefSeq, PubMed]; May protect cells from cell death by inducing cytosolic vacuolization and up-regulating the autophagy pathway (PubMed:21072319). May play a role in apoptosis and cell proliferation through its interaction with HSPA5 (PubMed:26045166)., [UniProtKB, PubMed, PubMed]; Prognostic role of TSPAN1, KIAA1324 and ESRP1 in prostate cancer., [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": 7, "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": 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": 0, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 8796, "biomarker_type": "", "glycan_count": 12, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q08AE6;Q5T5C9;Q5T5D0;Q5T5D1;Q9P2M2", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0044090 positive regulation of vacuole organization;GO:0009267 cellular response to starvation;GO:2000786 positive regulation of autophagosome assembly", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q6UXG2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UXV1-1", "uniprot_id": "IZUM2_HUMAN", "mass": 24856.0, "length": 221, "protein_name": "Izumo sperm-egg fusion protein 2", "gene_name": "IZUMO2", "organism": "Human", "refseq_name": "izumo sperm-egg fusion protein 2 isoform 2 precursor", "refseq_ac": "NP_001308378", "gene_names_uniprotkb": "IZUMO2; C19orf41; PRO21961; SCRL", "gene_names_refseq": "C19orf41; IZUMO2; PLAL6978; PRO21961; SCRL", "protein_names_uniprotkb": "Izumo sperm-egg fusion protein 2", "protein_names_refseq": "izumo sperm-egg fusion protein 2 isoform 2 precursor; izumo sperm-egg fusion protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:126123); (R-HSA-1300645)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "11080640;11237011;12975309;17525332;19335925;19658160;38484656", "class_list": "", "function": "Expression of IZUMO2 in colorectal cancer in association with clinicopathological features., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5GRG3;Q5GRG4;Q6ZNM5;Q8NHR8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q6UXV1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZWJ8-3", "uniprot_id": "KCP_HUMAN", "mass": 166935.0, "length": 1568, "protein_name": "Kielin/chordin-like protein", "gene_name": "KCP", "organism": "Human", "refseq_name": "kielin/chordin-like protein isoform 2 precursor", "refseq_ac": "NP_955381", "gene_names_uniprotkb": "KCP; CRIM2; KCP1", "gene_names_refseq": "CRIM2; KCP1; KCP; NET67", "protein_names_uniprotkb": "Kielin/chordin-like protein; CRIM-2; Cysteine-rich BMP regulator 2; Cysteine-rich motor neuron 2 protein; KCP-1; Kielin/chordin-like protein 1", "protein_names_refseq": "cysteine rich BMP regulator 2 (chordin-like); cysteine-rich motor neuron 2 protein; kielin/chordin-like protein 1; kielin/chordin-like protein isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:375616)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "29557506;30144436;30459171;37226930;39894887", "class_list": "", "function": "Enhances bone morphogenetic protein (BMP) signaling in a paracrine manner. In contrast, it inhibits both the activin-A and TGFB1-mediated signaling pathways (By similarity)., [UniProtKB]; Kielin/chordin-like protein enhances induction of osteoblast differentiation by Bone Morphogenetic Protein-2., [RefSeq, PubMed]; The KCP was closely associated with heart failure. The regulation of BMP2/7 and TGF-beta1 expression may be the possible mechanisms., [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": 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": 31, "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": "A0A087WT73;Q8NBE0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0030513 positive regulation of BMP signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6ZWJ8-3", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z3Y9-1", "uniprot_id": "K1C26_HUMAN", "mass": 51911.0, "length": 468, "protein_name": "Keratin, type I cytoskeletal 26", "gene_name": "KRT26", "organism": "Human", "refseq_name": "keratin, type I cytoskeletal 26", "refseq_ac": "NP_853517", "gene_names_uniprotkb": "KRT26; KRT25B", "gene_names_refseq": "CK26; K25B; K25IRS2; K26; KRT25B; KRT26", "protein_names_uniprotkb": "Keratin, type I cytoskeletal 26; CK-26; Cytokeratin-26; K25B; K26; Keratin-25B; Keratin-26; Type I inner root sheath-specific keratin-K25irs2", "protein_names_refseq": "cytokeratin-26; keratin 26, type I; keratin, type I cytoskeletal 26; keratin-25B; type I inner root sheath specific keratin 25 irs2; type I inner root sheath-specific keratin-K25irs2", "tax_id": 9606, "disease": "", "pathway": " (hsa:353288); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 73, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15373777;15617563;15797384;15803139;16061697;16382671;16639001;16874310;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20068231;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;2414304;25208914;25926655;26375851;26390218;27452731;27600516;27862975;27920218;29393594;29493099;29508533;29557506;29632711;29786170;31844290;32488085;32502341;32938616;33298915;33717175;33968037;34087483;34171305;34211107;34357683;35051231;7543090;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "The protein encoded by this gene is a member of the keratin superfamily. This keratin protein is a type I keratin that is specific for the inner root sheath of the hair follicle. This gene exists in a cluster with other keratin genes on chromosome 17q21. [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2RUL2;B2RNH8", "ec_number_list": "", "go_molecular_function": "GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0070062 extracellular exosome;GO:0045095 keratin filament", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0045109 intermediate filament organization;GO:0002009 morphogenesis of an epithelium", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q7Z3Y9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z3Z0-1", "uniprot_id": "K1C25_HUMAN", "mass": 49318.0, "length": 450, "protein_name": "Keratin, type I cytoskeletal 25", "gene_name": "KRT25", "organism": "Human", "refseq_name": "keratin, type I cytoskeletal 25", "refseq_ac": "NP_853512", "gene_names_uniprotkb": "KRT25; KRT25A", "gene_names_refseq": "ARWH3; KRT24IRS1; KRT25A; KRT25", "protein_names_uniprotkb": "Keratin, type I cytoskeletal 25; CK-25; Cytokeratin-25; K25A; K25; Keratin-25A; Keratin-25; Type I inner root sheath-specific keratin-K25irs1", "protein_names_refseq": "CK-25; K25A; K25; cytokeratin-25; keratin 25, type I; keratin, type I cytoskeletal 25; keratin-25A; type I inner root sheath specific keratin 25 irs1; type I inner root sheath-specific keratin-K25irs1", "tax_id": 9606, "disease": "autosomal recessive woolly hair 3 (Disease Ontology:DOID:0111574)", "pathway": " (hsa:147183); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 59, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15373777;15617563;15797384;15803139;16061697;16382671;16639001;16874310;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18669648;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;2414304;25208914;25926655;26160856;26390218;26902920;28899683;32157095;33968037;35051231;35494241;35926655;37217939;7543090;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies., [RefSeq, PubMed]; Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs) (By similarity). Plays a role in the cytoskeleton organization (PubMed:26902920)., [UniProtKB, UniProtKB, PubMed]; KRT25 is involved in human hair abnormality, and is consistent with the curled, fragile hair found in mice with Krt25 mutations., [RefSeq, PubMed]; Study reports a Chinese autosomal dominant woolly hair/hypotrichosis pedigree that results from a heterozygous nonsynonymous variant in KRT25 and conclude that mutation in KRT25 affects the stability of the cytoskeleton and hypothesize that this is how it affects hair in woolly hair syndromes., [RefSeq, PubMed]; This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 25, "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:0046982 protein heterodimerization activity;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0070062 extracellular exosome;GO:0045095 keratin filament", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0007010 cytoskeleton organization;GO:0045109 intermediate filament organization;GO:0031069 hair follicle morphogenesis;GO:0002009 morphogenesis of an epithelium", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q7Z3Z0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86U28-1", "uniprot_id": "ISCA2_HUMAN", "mass": 16476.0, "length": 154, "protein_name": "Iron-sulfur cluster assembly 2 homolog, mitochondrial", "gene_name": "ISCA2", "organism": "Human", "refseq_name": "iron-sulfur cluster assembly 2 homolog, mitochondrial isoform 2 precursor", "refseq_ac": "NP_001258936", "gene_names_uniprotkb": "ISCA2; HBLD1", "gene_names_refseq": "HBLD1; ISA2; ISCA2; MMDS4; c14_5557", "protein_names_uniprotkb": "Iron-sulfur cluster assembly 2 homolog, mitochondrial; HESB-like domain-containing protein 1", "protein_names_refseq": "HESB-like domain-containing protein 1; iron-sulfur cluster assembly 2 homolog, mitochondrial isoform 2 precursor; iron-sulfur cluster assembly 2 homolog, mitochondrial", "tax_id": 9606, "disease": "multiple mitochondrial dysfunctions syndrome 4 (Disease Ontology:DOID:0080136)", "pathway": " (hsa:122961); (R-HSA-1362409); (R-HSA-9854311)", "pathway_count": 3, "publication_count": 79, "publication_id_list": "10639125;11237011;11823441;12785837;12886008;12947415;12970193;15247478;15509595;15952888;16847322;17331979;17923681;18319250;18339629;18425540;19454487;19628817;19913121;20167786;20522547;20628086;20668094;20873749;20877624;21298097;21776984;21944046;21987576;22077971;22101253;22306468;22323289;22352884;22416140;22511353;23481700;24715725;24733926;24954416;24954417;25347204;25418920;25505266;25539947;25576301;26016389;26016518;26749241;27846572;27920218;27989128;28001042;28228285;28380382;28391595;28832583;28887308;29242379;29557506;29786170;30269484;30379171;31831856;31844290;32157095;32488085;32502341;32938616;33936100;33968037;34171305;34289383;35580925;35714932;36010968;36097192;37225108;9989622", "class_list": "", "function": "Copper exerts cytotoxicity through inhibition of iron-sulfur cluster biogenesis on ISCA1/ISCA2/ISCU assembly proteins., [RefSeq, PubMed]; ISCA1, ISCA2, and IBA57 were depleted by RNA interference. Depleted cells contained massively swollen and enlarged mitochondria that were virtually devoid of cristae membranes, demonstrating the importance of these proteins for mitochondrial biogenesis., [RefSeq, PubMed]; ISCA2 deficiency leads to heme synthesis defects and impaired erythroid differentiation in K562 cells by indirect ROS-mediated IRP1 activation., [RefSeq, PubMed]; ISCA2 inhibition decreases HIF and induces ferroptosis in clear cell renal carcinoma., [RefSeq, PubMed]; Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. May be involved in the binding of an intermediate of Fe/S cluster assembly., [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]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is an A-type iron-sulfur cluster (ISC) protein found in mitochondria. The encoded protein appears to be involved in the maturation of mitochondrial iron-sulfur proteins. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NFF1;A8K3W3;G3V291;Q8IYZ0;Q96BB2", "ec_number_list": "", "go_molecular_function": "GO:0005506 iron ion binding;GO:0042802 identical protein binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0051537 2 iron, 2 sulfur cluster binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0120510 mitochondrial [4Fe-4S] assembly complex", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q86U28-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86XH1-1", "uniprot_id": "DRC11_HUMAN", "mass": 95341.0, "length": 822, "protein_name": "Dynein regulatory complex subunit 11", "gene_name": "DRC11", "organism": "Human", "refseq_name": "dynein regulatory complex subunit 11 isoform 2", "refseq_ac": "NP_001257513", "gene_names_uniprotkb": "DRC11; IQCA1; IQCA", "gene_names_refseq": "4930465P12Rik; DRC11; IQCA1; IQCA", "protein_names_uniprotkb": "Dynein regulatory complex subunit 11; IQ and AAA domain-containing protein 1", "protein_names_refseq": "IQ and AAA domain-containing protein 1; IQ motif containing with AAA domain 1; dynein regulatory complex protein 11; dynein regulatory complex subunit 11 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79781)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "29557506;30379171;31844290", "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 protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 27, "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": "B4DFH9;E7EWQ0;Q4G164;Q53R37;Q53RV3;Q96NS7;Q9H680", "ec_number_list": "", "go_molecular_function": "GO:0008568 microtubule severing ATPase activity;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005930 axoneme", "go_biological_process": "GO:0051013 microtubule severing;GO:0030317 flagellated sperm motility;GO:0003341 cilium movement", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q86XH1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86Y46-1", "uniprot_id": "K2C73_HUMAN", "mass": 58923.0, "length": 540, "protein_name": "Keratin, type II cytoskeletal 73", "gene_name": "KRT73", "organism": "Human", "refseq_name": "keratin, type II cytoskeletal 73", "refseq_ac": "NP_778238", "gene_names_uniprotkb": "KRT73; K6IRS3; KB36; KRT6IRS3", "gene_names_refseq": "CK-73; IRT6IRS3; K6IRS3; K73; KRT6IRS3; KRT73", "protein_names_uniprotkb": "Keratin, type II cytoskeletal 73; CK-73; Cytokeratin-73; K73; Keratin-73; Type II inner root sheath-specific keratin-K6irs3; Type-II keratin Kb36", "protein_names_refseq": "cytokeratin-73; keratin 6 irs3; keratin 73, type II; keratin, type II cytoskeletal 73; type II inner root sheath-specific keratin-K6irs3; type-II keratin Kb36", "tax_id": 9606, "disease": "", "pathway": " (hsa:319101); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 60, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11237011;11350120;11380615;11590230;12648212;12902340;15033990;15337775;15373777;15797384;15803139;16061697;16382671;16639001;16874310;1691188;1694855;16959974;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;19664994;20068231;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;2414304;25208914;25926655;26390218;32157095;33968037;34211107;35051231;35580925;36010968;41018975;7543090;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable)., [UniProtKB]; Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]., [RefSeq]; Report on the cloning of two novel human type II keratin cDNAs, K6irs3 and K6irs4, which were specifically expressed in the inner root sheath of the hair follicle, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q32MB2", "ec_number_list": "", "go_molecular_function": "GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005634 nucleus;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": 6.3, "record_id": "Q86Y46-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IYV9-1", "uniprot_id": "IZUM1_HUMAN", "mass": 38930.0, "length": 350, "protein_name": "Izumo sperm-egg fusion protein 1", "gene_name": "IZUMO1", "organism": "Human", "refseq_name": "izumo sperm-egg fusion protein 1 isoform 3", "refseq_ac": "NP_001308794", "gene_names_uniprotkb": "IZUMO1", "gene_names_refseq": "IZUMO1; IZUMO; OBF", "protein_names_uniprotkb": "Izumo sperm-egg fusion protein 1; OBF; Oocyte binding/fusion factor; Sperm-specific protein izumo", "protein_names_refseq": "izumo sperm-egg fusion 1; izumo sperm-egg fusion protein 1 isoform 3; izumo sperm-egg fusion protein 1; oocyte binding/fusion factor; sperm-specific protein Izumo", "tax_id": 9606, "disease": "", "pathway": " (hsa:284359); (R-HSA-1300645)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "11080640;11237011;15759005;18082733;19335925;19658160;27309808;27309818;29557506;33392160;34879103;35051231;36070373;38381819", "class_list": "", "function": "Crystal structures of human IZUMO1 and JUNO in unbound and bound conformations, [RefSeq, PubMed]; Crystal structures of human IZUMO1, JUNO and the IZUMO1-JUNO complex, establishing the structural basis for the IZUMO1-JUNO-mediated sperm-oocyte interaction, [RefSeq, PubMed]; Essential sperm cell-surface protein required for fertilization by acting as a ligand for IZUMO1R/JUNO receptor on egg. The IZUMO1:IZUMO1R/JUNO interaction is a necessary adhesion event between sperm and egg that is required for fertilization but is not sufficient for cell fusion. The ligand-receptor interaction probably does not act as a membrane 'fusogen'. Acts a ligand for the human-specific oolemma epitope FCRL3/MAIA during fertilization (PubMed:36070373). FCRL3/MAIA replaces IZUMO1R/JUNO as IZUMO1 receptor after sperm-egg adhesion, which permits species-specific gamete fusion (PubMed:36070373). Plays a critical role in sperm-oolemma binding prior to plasma membrane fusion. Can mediate cell-cell fusion in cultured mammalian cells independently of its binding to IZUMO1R/JUNO (By similarity)., [UniProtKB, UniProtKB, PubMed]; Genetic diversity in the IZUMO1-JUNO protein-receptor pair involved in human reproduction. Publication Status: Online-Only, [RefSeq, PubMed]; Human sperm contain Izumo and addition of the antibody against human Izumo left the sperm unable to fuse with zona-free hamster eggs [Izumo], [RefSeq, PubMed]; No evidence for a direct extracellular interaction between human Fc receptor-like 3 (MAIA) and the sperm ligand IZUMO1., [RefSeq, PubMed]; The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion (Inoue et al., 2005 [PubMed 15759005]).[supplied by OMIM, Mar 2008]., [RefSeq]; We observed in our populations two combinations of four polymorphisms that appeared to be preferentially linked (CGG-CG and TAA-TT) without any significant difference between different genotype repartitions. GeneRIF: 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": 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": 6, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6Q8P6;Q6Q8P7", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0048018 receptor ligand activity;GO:0086080 protein binding involved in heterotypic cell-cell adhesion", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0001669 acrosomal vesicle;GO:0002080 acrosomal membrane", "go_biological_process": "GO:0035036 sperm-egg recognition;GO:0000768 syncytium formation by plasma membrane fusion;GO:0007155 cell adhesion;GO:0007339 binding of sperm to zona pellucida;GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8IYV9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N9B5-1", "uniprot_id": "JMY_HUMAN", "mass": 111445.0, "length": 988, "protein_name": "Junction-mediating and -regulatory protein", "gene_name": "JMY", "organism": "Human", "refseq_name": "junction-mediating and -regulatory protein", "refseq_ac": "NP_689618", "gene_names_uniprotkb": "JMY", "gene_names_refseq": "JMY; WHAMM2; WHDC1L3", "protein_names_uniprotkb": "Junction-mediating and -regulatory protein", "protein_names_refseq": "WAS protein homology region 2 domain containing 1-like 3; junction-mediating and -regulatory protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:133746); (R-HSA-6804760)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10518217;11511361;15448695;15525938;15706352;16415881;17108971;17170761;17707234;18398821;18669648;18833288;19011621;19287377;19897726;20118233;20870725;21625555;22362889;23186163;23301498;25576301;27846572;28832583;28834231;29242379;29393594;29557506;29930882;30192525;30379171;30420355;30429286;31020640;31844290;32157095;32350084;32363797;33872315;33968037;34357683;35051231", "class_list": "", "function": "Acts both as a nuclear p53/TP53-cofactor and a cytoplasmic regulator of actin dynamics depending on conditions (PubMed:30420355). In nucleus, acts as a cofactor that increases p53/TP53 response via its interaction with p300/EP300. Increases p53/TP53-dependent transcription and apoptosis, suggesting an important role in p53/TP53 stress response such as DNA damage. In cytoplasm, acts as a nucleation-promoting factor for both branched and unbranched actin filaments (PubMed:30420355). Activates the Arp2/3 complex to induce branched actin filament networks. Also catalyzes actin polymerization in the absence of Arp2/3, creating unbranched filaments (PubMed:30420355). Contributes to cell motility by controlling actin dynamics. May promote the rapid formation of a branched actin network by first nucleating new mother filaments and then activating Arp2/3 to branch off these filaments. Upon nutrient stress, directly recruited by MAP1LC3B to the phagophore membrane surfaces to promote actin assembly during autophagy (PubMed:30420355). The p53/TP53-cofactor and actin activator activities are regulated via its subcellular location (By similarity)., [UniProtKB, UniProtKB, PubMed]; Data demonstrate a pathway that links the cytoskeleton with the p53 response, and further suggest that the ability of JMY to regulate actin and cadherin is instrumental in coordinating cell motility with the p53 response., [RefSeq, PubMed]; JMY represents a new class of multifunctional actin assembly factor whose activity is regulated, at least in part, by sequestration in the nucleus., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Role of Junction-Mediating and Regulatory Protein in the Pathogenesis of Glucocorticoid-Induced Endothelial Cell Lesions., [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": 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": 18, "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": "A1L4P5;B5MDS2;B5MDT0", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003779 actin binding;GO:0008017 microtubule binding;GO:0071933 Arp2/3 complex binding", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005856 cytoskeleton", "go_biological_process": "GO:0070358 actin polymerization-dependent cell motility;GO:0070060 'de novo' actin filament nucleation;GO:0006281 DNA repair;GO:0006357 regulation of transcription by RNA polymerase II;GO:0043065 positive regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q8N9B5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TAC2-1", "uniprot_id": "JOS2_HUMAN", "mass": 20756.0, "length": 188, "protein_name": "Josephin-2", "gene_name": "JOSD2", "organism": "Human", "refseq_name": "josephin-2 isoform 1", "refseq_ac": "NP_001257568", "gene_names_uniprotkb": "JOSD2; SBBI54", "gene_names_refseq": "JOSD2; SBBI54", "protein_names_uniprotkb": "Josephin-2; 3.4.19.12; Josephin domain-containing protein 2", "protein_names_refseq": "josephin domain-containing protein 2; josephin-2 isoform 1; josephin-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:126119); (R-HSA-5689877)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10915768;11237011;12486728;17696782;18599482;20940148;21118805;23625928;29437277;29485866;29493099;30429286;30484775;32157095;32938616;32983136;35051231;35568970;36583817;37899394;38177135", "class_list": "", "function": "Cleaves 'Lys-63'-linked poly-ubiquitin chains, and with lesser efficiency 'Lys-48'-linked poly-ubiquitin chains (in vitro). May act as a deubiquitinating enzyme., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Deubiquitinating enzyme JOSD2 affects susceptibility of non-small cell lung carcinoma cells to anti-cancer drugs through DNA damage repair. Publication Status: Online-Only, [RefSeq, PubMed]; Deubiquitinating enzyme JOSD2 promotes hepatocellular carcinoma progression through interacting with and inhibiting CTNNB1 degradation., [RefSeq, PubMed]; Deubiquitinating enzyme Josephin-2 stabilizes PHGDH to promote a cancer stem cell phenotype in hepatocellular carcinoma., [RefSeq, PubMed]; Josephin domain containing 2 (JOSD2) promotes lung cancer by inhibiting LKB1 (Liver kinase B1) activity. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein containing a Josephin domain. Josephin domain-containing proteins are deubiquitinating enzymes which catalyze the hydrolysis of the bond between the C-terminal glycine of the ubiquitin peptide and protein substrates. 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "M0QX25", "ec_number_list": "3.4.19.12", "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8TAC2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TDN2-1", "uniprot_id": "KCNV2_HUMAN", "mass": 62459.0, "length": 545, "protein_name": "Potassium voltage-gated channel subfamily V member 2", "gene_name": "KCNV2", "organism": "Human", "refseq_name": "potassium voltage-gated channel subfamily V member 2", "refseq_ac": "NP_598004", "gene_names_uniprotkb": "KCNV2", "gene_names_refseq": "CDSRR; KCNV2; KV11.1; Kv8.2; RCD3B", "protein_names_uniprotkb": "Potassium voltage-gated channel subfamily V member 2; Voltage-gated potassium channel subunit Kv8.2", "protein_names_refseq": "potassium channel, subfamily V, member 2; potassium channel, voltage gated modifier subfamily V, member 2; potassium voltage-gated channel subfamily V member 2; voltage-gated potassium channel subunit Kv8.2", "tax_id": 9606, "disease": "cone dystrophy with supernormal rod responses (Disease Ontology:DOID:0081022)", "pathway": " (hsa:169522); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "12060745;16909397;20393197;21231794;33392160;33960280;34063002;34535971;35051231;35254053;36278409;37852740", "class_list": "", "function": "A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response., [RefSeq, PubMed]; Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family., [RefSeq, PubMed]; Initial diagnoses of patients found to be homozygous for a KCNV2 founder mutation on the Arabian Peninsula (c.427G>T; p.Glu143*)., [RefSeq, PubMed]; KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular, Cellular and Functional Changes in the Retinas of Young Adult Mice Lacking the Voltage-Gated K(+) Channel Subunits Kv8.2 and K2.1. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations mapped to KCNV2 are responsible for cone dystrophy with supernormal rod electoretinogram., [RefSeq, PubMed]; Obligatory heterotetramerization of three previously uncharacterized Kv channel subunits identified in human genome (Kv6.3)(Kv10.1) (Kv11.1), [RefSeq, PubMed]; Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values., [UniProtKB]; Voltage-gated potassium (Kv) 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. This gene encodes a member of the potassium voltage-gated channel subfamily V. This member is identified as a 'silent subunit', and it does not form homomultimers, but forms heteromultimers with several other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other potassium channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several other tissues. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "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": "Q5T6X0", "ec_number_list": "", "go_molecular_function": "GO:0015459 potassium channel regulator activity;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0001508 action potential;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8TDN2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WXH2-1", "uniprot_id": "JPH3_HUMAN", "mass": 81469.0, "length": 748, "protein_name": "Junctophilin-3", "gene_name": "JPH3", "organism": "Human", "refseq_name": "junctophilin-3 isoform 1", "refseq_ac": "NP_065706", "gene_names_uniprotkb": "JPH3; JP3; TNRC22", "gene_names_refseq": "CAGL237; HDL2; JP-3; JP3; JPH3; TNRC22", "protein_names_uniprotkb": "Junctophilin-3; JP-3; Junctophilin type 3; Trinucleotide repeat-containing gene 22 protein", "protein_names_refseq": "junctophilin type 3; junctophilin-3 isoform 1; trinucleotide repeat containing 22", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); Huntington's disease-like 2 (Disease Ontology:DOID:0090104)", "pathway": " (hsa:57338)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10891348;11694876;11914418;14557581;32983136;33298915;33392160;35089322;35580925;36273396", "class_list": "", "function": "Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder., [RefSeq, PubMed]; Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]., [RefSeq]; Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence., [RefSeq, PubMed]; Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH3 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory., [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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DUN2;Q8N471;Q9HDC3;Q9HDC4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0014701 junctional sarcoplasmic reticulum membrane;GO:0030314 junctional membrane complex", "go_biological_process": "GO:0007613 memory;GO:0035640 exploration behavior;GO:0048167 regulation of synaptic plasticity;GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;GO:0060402 calcium ion transport into cytosol", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8WXH2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92830-1", "uniprot_id": "KAT2A_HUMAN", "mass": 93926.0, "length": 837, "protein_name": "Histone acetyltransferase KAT2A", "gene_name": "KAT2A", "organism": "Human", "refseq_name": "histone acetyltransferase KAT2A isoform 1", "refseq_ac": "NP_066564", "gene_names_uniprotkb": "KAT2A; GCN5L2; GCN5", "gene_names_refseq": "GCN5L2; GCN5; KAT2A; PCAF-b; hGCN5", "protein_names_uniprotkb": "Histone acetyltransferase KAT2A; 2.3.1.-; 2.3.1.48; General control of amino acid synthesis protein 5-like 2; Histone acetyltransferase GCN5; Histone glutaryltransferase KAT2A; Histone succinyltransferase KAT2A; Lysine acetyltransferase 2A; Protein lactyltransferase KAT2A; STAF97; hGCN5", "protein_names_refseq": "GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 2; General control of amino acid synthesis, yeast, homolog-like 2; K(lysine) acetyltransferase 2A; STAF97; general control of amino acid synthesis protein 5-like 2; histone acetyltransferase GCN5; histone acetyltransferase KAT2A isoform 1; histone acetyltransferase KAT2A; histone glutaryltransferase KAT2A; histone succinyltransferase KAT2A; hsGCN5", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); familial nephrotic syndrome (Disease Ontology:DOID:2590); lung non-small cell carcinoma (Disease Ontology:DOID:3908)", "pathway": " (hsa:2648); (R-HSA-1912408); (R-HSA-210744); (R-HSA-2122947); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-3214847); (R-HSA-350054); (R-HSA-5250924); (R-HSA-5689880); (R-HSA-73762); (R-HSA-8941856); (R-HSA-9013508); (R-HSA-9013695); (R-HSA-9733709); (R-HSA-9772755); (R-HSA-9793380); (R-HSA-9976102)", "pathway_count": 18, "publication_count": 372, "publication_id_list": "10082553;10206645;10373431;10444327;10611234;10713164;10786633;10821277;10879540;10882063;10913176;10964718;10982817;11006133;11044625;11090279;11112321;11237011;11250901;11384967;11438666;11461910;11564863;11566882;11585921;11740940;11866432;11923872;12050117;12209127;12354787;12374742;12386158;12391150;12393701;12393749;12482972;12530964;12670868;12917689;12917691;14636557;14661020;14672936;14767476;14980219;14991602;14992727;15053880;15095414;15107403;15199122;15313887;15472075;1547496;15531924;15546612;15558034;15574878;15592455;15684396;15760269;15824097;15829515;15916963;16093323;16214042;16227571;16239140;16256737;16387653;16514417;16530044;16530045;16603771;16612405;16738328;16751179;16753578;16829959;16878130;16892064;16901786;16964248;17003037;17114293;17157496;17290220;17301242;17318177;17344417;17355966;17401372;17410582;17443180;17500065;17540598;17540599;17554337;17612494;17646408;17646409;17671196;17685488;17823410;17873522;17925232;17980597;17981138;17998332;18043734;18077452;18083107;18094723;18172164;18206972;18239137;18296446;1831692;18374649;18381289;18467330;18598942;18623064;18632802;18636086;18824583;18824585;18829457;18829459;18838386;18838538;18974129;19015242;19103755;19124460;19135894;19150886;19151708;19187761;19187765;19188362;19363159;19398555;19424180;19479054;19524514;19556245;19714243;19723635;19726682;19773441;19800882;19838211;19874889;19910467;20018852;20080834;20090754;20096447;20228808;20351093;20368735;20442293;20442780;20495621;20501646;20575550;20716525;20801121;20804727;20805998;20961854;20972443;21106533;21124902;21131905;21135039;21220120;21239494;21280156;21362556;21402699;21551231;21559432;21571647;21596315;21602795;21637926;21659512;21849505;21875955;21962518;22029577;22085928;22110129;22128162;22216260;22266653;22327296;22396495;22424782;22464331;22465951;22652693;22665483;23142079;23159851;23395819;23481700;23486064;23508102;23555303;23667505;23824326;23825189;23995757;24056413;24244196;24260525;24368734;24493797;24680668;24714562;24715725;24896179;24901984;24952918;25187301;25197364;25305019;25417103;25561738;25576301;25578727;25593305;25593309;25645385;25880248;26154972;26324722;26375851;26387946;26783251;26801977;26886794;26977885;26992070;27377381;27418187;27418309;27563068;27600516;27698142;27749937;27760318;27796307;27841855;27846572;27920218;2805069;28178531;28182322;28218747;28228285;28398509;28832583;28834231;28855257;28904123;29101237;29138278;29146722;29174768;29211711;29242379;29437277;29493099;29508533;29557506;29632046;29632711;29636455;29789417;29897600;29937342;29973595;30109122;30315122;30379171;30410026;30429286;30524438;30833945;30894545;31092671;31154438;31217245;31400120;31485071;31527837;31530632;31542297;31544921;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;33054971;33141586;33298915;33392160;33592498;33657400;33912179;33936100;33968037;33981976;34012049;34171305;34211107;34405274;34509645;34561969;34933446;35033534;35051231;35190547;35439434;35580925;35995428;36010968;36241641;37040526;37938771;38007639;38128537;38258976;38575732;39561764;7491500;7566092;7578059;7588063;7801123;8001118;8552087;8649374;8684459;8687460;8878478;9244301;9315665;9427644;9462510;9558366;9604939;9611240;9620803;9651681;9693032;9694793;9819428;9880483", "class_list": "", "function": "(Microbial infection) In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat's transactivating activity and may help inducing chromatin remodeling of proviral genes., [UniProtKB, PubMed]; GCN5 mediates DNA-PKcs crotonylation for DNA double-strand break repair and determining cancer radiosensitivity., [RefSeq, PubMed]; Integrative analysis of histone acetyltransferase KAT2A in human cancer., [RefSeq, PubMed]; KAT2A, or GCN5, is a histone acetyltransferase (HAT) that functions primarily as a transcriptional activator. It also functions as a repressor of NF-kappa-B (see MIM 164011) by promoting ubiquitination of the NF-kappa-B subunit RELA (MIM 164014) in a HAT-independent manner (Mao et al., 2009 [PubMed 19339690]).[supplied by OMIM, Sep 2009]., [RefSeq]; Lysine acetyltransferase KAT2A modulates ferroptosis during colorectal cancer development., [RefSeq, PubMed]; Protein lysine acyltransferase that catalyzes acetylation of histone and non-histone proteins using acetyl-CoA (PubMed:16753578, PubMed:17301242, PubMed:21131905, PubMed:22465951, PubMed:23142079, PubMed:27796307, PubMed:29174768, PubMed:31527837, PubMed:35995428, PubMed:38128537, PubMed:27377381, PubMed:29211711, PubMed:37040526, PubMed:39561764). Also catalyzes acyl-CoA-dependent acylation of lysine residues in proteins using alternative acyl-CoA donors, including propionyl-CoA, butyryl-CoA, succinyl-CoA, glutaryl-CoA, crotonyl-CoA and lactoyl-CoA (PubMed:31542297, PubMed:29211711, PubMed:37040526, PubMed:39561764). Acts as a histone lysine succinyltransferase: catalyzes succinylation of histone H3 on 'Lys-79' (H3K79succ), with a maximum frequency around the transcription start sites of genes (PubMed:29211711). Succinylation of histones gives a specific tag for epigenetic transcription activation (PubMed:29211711). Association with the 2-oxoglutarate dehydrogenase complex, which provides succinyl-CoA, is required for histone succinylation (PubMed:29211711). In different complexes, functions either as an acetyltransferase (HAT) or as a succinyltransferase: in the SAGA and ATAC complexes, acts as a histone acetyltransferase (PubMed:17301242, PubMed:19103755, PubMed:29211711). Has significant histone acetyltransferase activity with core histones, but not with nucleosome core particles (PubMed:17301242, PubMed:19103755, PubMed:21131905). Has a a strong preference for acetylation of H3 at 'Lys-9' (H3K9ac) (PubMed:21131905). Also catalyzes acetylation of histone H1.4 (H1-4) at 'Lys-34' (H1.4K34ac), a modification enriched at promoters of active genes (PubMed:22465951). Acetylation of histones gives a specific tag for epigenetic transcription activation (PubMed:17301242, PubMed:19103755, PubMed:29211711). Recruited by the XPC complex at promoters, where it specifically mediates acetylation of histone variant H2A.Z.1/H2A.Z, thereby promoting expression of target genes (PubMed:29973595, PubMed:31527837). Involved in long-term memory consolidation and synaptic plasticity: acts by promoting expression of a hippocampal gene expression network linked to neuroactive receptor signaling (By similarity). Acts as a positive regulator of T-cell activation: upon TCR stimulation, recruited to the IL2 promoter following interaction with NFATC2 and catalyzes acetylation of histone H3 at 'Lys-9' (H3K9ac), leading to promote IL2 expression (By similarity). Required for growth and differentiation of craniofacial cartilage and bone by regulating acetylation of histone H3 at 'Lys-9' (H3K9ac) (By similarity). Regulates embryonic stem cell (ESC) pluripotency and differentiation (By similarity). Also acetylates non-histone proteins, such as CEBPB, MRE11, PPARGC1A, PLK4 and TBX5 (PubMed:16753578, PubMed:17301242, PubMed:27796307, PubMed:29174768, PubMed:38128537). Involved in heart and limb development by mediating acetylation of TBX5, acetylation regulating nucleocytoplasmic shuttling of TBX5 (PubMed:29174768). Acts as a negative regulator of centrosome amplification by mediating acetylation of PLK4 (PubMed:27796307). Acts as a negative regulator of gluconeogenesis by mediating acetylation and subsequent inactivation of PPARGC1A (PubMed:16753578, PubMed:23142079). Also acts as a histone glutaryltransferase: catalyzes glutarylation of histone H4 on 'Lys-91' (H4K91glu), a mark that destabilizes nucleosomes by promoting dissociation of the H2A-H2B dimers from nucleosomes (PubMed:31542297). Catalyzes histone H3 lactylation at 'Lys-14' and 'Lys-18' in a lactyl-CoA-dependent manner (PubMed:39561764). Lactyl-CoA for this reaction can be generated by ACSS2 (PubMed:39561764)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 0, "predicted_o_glycosites": 6, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 10, "reported_glycation": 0, "reported_snv": 20, "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": "Q8N1A2;Q9UCW1", "ec_number_list": "2.3.2.-;2.3.1.48;2.3.1.-;3.5.1.-;3.5.1.98;3.6.4.-;2.7.7.6;2.7.10.1;2.7.11.1;2.7.11.22;2.7.11.23;2.3.1.21;2.1.1.-;2.1.1.364;2.3.2.27;2.3.1.57;3.5.1.48;3.5.1.62;2.3.1.259;3.6.4.13;2.3.1.80;2.7.10.2;3.4.19.12", "go_molecular_function": "GO:0061733 protein-lysine-acetyltransferase activity;GO:0043997 histone H4K12 acetyltransferase activity;GO:0106078 histone succinyltransferase activity;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0033276 transcription factor TFTC complex;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0090043 regulation of tubulin deacetylation;GO:1903010 regulation of bone development;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 37.5, "record_id": "Q92830-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96DY2-1", "uniprot_id": "DRC10_HUMAN", "mass": 52359.0, "length": 449, "protein_name": "Dynein regulatory complex subunit 10", "gene_name": "DRC10", "organism": "Human", "refseq_name": "dynein regulatory complex subunit 10 isoform 1", "refseq_ac": "NP_001317381", "gene_names_uniprotkb": "DRC10; IQCD", "gene_names_refseq": "4933433C09Rik; CFAP84; DRC10; IQCD", "protein_names_uniprotkb": "Dynein regulatory complex subunit 10; IQ domain-containing protein D", "protein_names_refseq": "IQ domain-containing protein D; IQ motif containing D; dynein regulatory complex protein 10; dynein regulatory complex subunit 10 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:115811)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "22544926;23481700;25576301;25645385;29557506;30379171;31844290;32157095;32357974;32387766;32488085;32502341;32938616;33298915;33691108;33936100;33968037;33981976;34087483;34171305;34405274;34509645;35051231;35561310;36010968;36215666;36241641;39894887", "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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 10, "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": "Q6ZSU0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005930 axoneme;GO:0036064 ciliary basal body", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0003341 cilium movement", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q96DY2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96L42-1", "uniprot_id": "KCNH8_HUMAN", "mass": 123804.0, "length": 1107, "protein_name": "Voltage-gated delayed rectifier potassium channel KCNH8", "gene_name": "KCNH8", "organism": "Human", "refseq_name": "voltage-gated delayed rectifier potassium channel KCNH8", "refseq_ac": "NP_653234", "gene_names_uniprotkb": "KCNH8", "gene_names_refseq": "ELK1; ELK; KCNH8; Kv12.1; elk3; hElk-1", "protein_names_uniprotkb": "Voltage-gated delayed rectifier potassium channel KCNH8; ELK channel 3; ELK1; ELK3; Ether-a-go-go-like potassium channel 3; Potassium voltage-gated channel subfamily H member 8; Voltage-gated potassium channel subunit Kv12.1; hElk-1", "protein_names_refseq": "ELK channel 3; ether-a-go-go-like potassium channel 1; ether-a-go-go-like potassium channel 3; hElk1; potassium channel, voltage gated eag related subfamily H, member 8; potassium voltage-gated channel, subfamily H (eag-related), member 8; voltage-gated delayed rectifier potassium channel KCNH8; voltage-gated potassium channel subunit Kv12.1", "tax_id": 9606, "disease": "retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:131096); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "11237011;11897058;12890647;19913121;20393197;20628086;21231794;28228285;29242379;29557506;30136882;30315122;31844290;32350084;33592498;34087483;35051231;35580925;36215666", "class_list": "", "function": "Kv12.1 channels add to the growing list of K(+) channels that are insensitive to phospholipase C beta signaling, [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]; Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel that mediates outward-rectifying potassium currents (PubMed:11897058). Elicits a slowly activating, non-inactivating and slowly deactivation outwards potassium current at depolarizating voltages from -30 mV to +50mV (PubMed:11897058). Shows no obvious change in the activation rate from different holding potentials. Activation is strongly dependent on the pH of the external solution (By similarity)., [UniProtKB, PubMed, UniProtKB]; Voltage-gated potassium (Kv) 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. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "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": "B7Z2I7;Q59GQ6", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005251 delayed rectifier potassium channel activity;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0042391 regulation of membrane potential;GO:0006813 potassium ion transport;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q96L42-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PY0-1", "uniprot_id": "K1908_HUMAN", "mass": 28245.0, "length": 264, "protein_name": "Putative uncharacterized protein PSMG3-AS1", "gene_name": "PSMG3-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "PSMG3-AS1; KIAA1908", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein PSMG3-AS1; PSMG3 antisense RNA 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "30379171", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8NAR8;Q8NBC0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q96PY0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96SI1-1", "uniprot_id": "KCD15_HUMAN", "mass": 31942.0, "length": 283, "protein_name": "BTB/POZ domain-containing protein KCTD15", "gene_name": "KCTD15", "organism": "Human", "refseq_name": "BTB/POZ domain-containing protein KCTD15 isoform 2", "refseq_ac": "NP_001123466", "gene_names_uniprotkb": "KCTD15", "gene_names_refseq": "KCTD15", "protein_names_uniprotkb": "BTB/POZ domain-containing protein KCTD15; Potassium channel tetramerization domain-containing protein 15", "protein_names_refseq": "BTB/POZ domain-containing protein KCTD15 isoform 2; BTB/POZ domain-containing protein KCTD15; potassium channel tetramerisation domain containing 15; potassium channel tetramerization domain-containing protein 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:79047); (R-HSA-8866904)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "11237011;15548692;18669648;19079261;19115315;19164386;19369195;19692490;20068231;23186163;23382213;25576301;25645385;25892735;27862975;29557506;31154438;31844290;32157095;32488085;32502341;32938616;34087483;34171305;34521919;35318648;35580925;38113115;38296633", "class_list": "", "function": "BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; During embryonic development, it is involved in neural crest formation (By similarity). Inhibits AP2 transcriptional activity by interaction with its activation domain (PubMed:23382213)., [UniProtKB, PubMed, UniProtKB]; KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis. Publication Status: Online-Only, [RefSeq, PubMed]; KCTD15 deregulation is associated with alterations of the NF-kappaB signaling in both pathological and physiological model systems. Publication Status: Online-Only, [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]", "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": 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": "A8K600;Q9BVI6", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q96SI1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BUE6-1", "uniprot_id": "ISCA1_HUMAN", "mass": 14179.0, "length": 129, "protein_name": "Iron-sulfur cluster assembly 1 homolog, mitochondrial", "gene_name": "ISCA1", "organism": "Human", "refseq_name": "iron-sulfur cluster assembly 1 homolog, mitochondrial precursor", "refseq_ac": "NP_112202", "gene_names_uniprotkb": "ISCA1; GK004; HBLD2", "gene_names_refseq": "HBLD2; ISA1; ISCA1; MMDS5; hIscA1; hIscA", "protein_names_uniprotkb": "Iron-sulfur cluster assembly 1 homolog, mitochondrial; HESB-like domain-containing protein 2; Iron-sulfur assembly protein IscA; hIscA", "protein_names_refseq": "HESB like domain containing 2; HESB-like domain-containing protein 2; iron-sulfur assembly protein IscA; iron-sulfur cluster assembly 1 homolog, mitochondrial precursor; iron-sulfur cluster assembly 1 homolog, mitochondrial", "tax_id": 9606, "disease": "multiple mitochondrial dysfunctions syndrome 5 (Disease Ontology:DOID:0080274)", "pathway": " (hsa:81689); (R-HSA-1362409); (R-HSA-9854311)", "pathway_count": 3, "publication_count": 62, "publication_id_list": "10639125;11237011;11823441;12785837;12886008;12947415;12970193;15247478;15262227;15509595;15952888;16847322;17331979;17923681;18319250;18339629;18425540;19454487;19628817;19656490;19864422;20167786;20522547;20668094;20873749;21298097;21776984;21944046;21987576;22077971;22101253;22306468;22323289;22352884;22416140;22511353;24733926;24954416;24954417;25347204;26016389;26016518;26569474;26749241;27989128;28001042;28356563;28380382;28391595;28887308;29557506;31844290;31848261;32157095;32983136;34171305;34289383;34932366;35051231;36072584;37225108;9989622", "class_list": "", "function": "Copper exerts cytotoxicity through inhibition of iron-sulfur cluster biogenesis on ISCA1/ISCA2/ISCU assembly proteins., [RefSeq, PubMed]; Human IscA1 plays an important role in both mitochondrial and cytosolic iron-sulfur cluster biogenesis, and a notable component of the latter is the interaction between IscA1 and IOP1., [RefSeq, PubMed]; ISCA1 is a mitochondrial protein involved in the biogenesis and assembly of iron-sulfur clusters, which play a role in electron-transfer reactions (Cozar-Castellano et al., 2004 [PubMed 15262227]).[supplied by OMIM, Mar 2008]., [RefSeq]; Identification of ISCA1 as novel immunological and prognostic biomarker for bladder cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. Probably involved in the binding of an intermediate of Fe/S cluster assembly., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Required for functional heme biosynthesis in erythroid cells., [RefSeq, PubMed]; Screening a human brain cDNA expression library with serum from a patient suffering from the autoimmune Sjogren's syndrome yielded a gene product called hIscA implicated in iron-sulfur cluster 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": 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": "B3KP34;B4DJI5;Q8ND75;Q9BZR2", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0051537 2 iron, 2 sulfur cluster binding;GO:0051536 iron-sulfur cluster binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0120510 mitochondrial [4Fe-4S] assembly complex", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q9BUE6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9C010-1", "uniprot_id": "IPKB_HUMAN", "mass": 8468.0, "length": 78, "protein_name": "cAMP-dependent protein kinase inhibitor beta", "gene_name": "PKIB", "organism": "Human", "refseq_name": "cAMP-dependent protein kinase inhibitor beta isoform 1", "refseq_ac": "NP_001257322", "gene_names_uniprotkb": "PKIB; PRKACN2", "gene_names_refseq": "PKIB; PRKACN2", "protein_names_uniprotkb": "cAMP-dependent protein kinase inhibitor beta; PKI-beta", "protein_names_refseq": "PKI-beta; cAMP-dependent protein kinase inhibitor 2; cAMP-dependent protein kinase inhibitor beta isoform 1; protein kinase (cAMP-dependent, catalytic) inhibitor beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:5570)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10880337;11237011;19035091;19483721;2052616;24715725;24869658;27325557;32676926;34087483;7684369", "class_list": "", "function": "Downregulation of cAMP-Dependent Protein Kinase Inhibitor-b Promotes Preeclampsia by Decreasing Phosphorylated Akt., [RefSeq, PubMed]; Extremely potent competitive inhibitor of cAMP-dependent protein kinase activity, this protein interacts with the catalytic subunit of the enzyme after the cAMP-induced dissociation of its regulatory chains., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Findings show that PKIB and PKA-C kinase can have critical functions of aggressive phenotype of PCs through Akt phosphorylation and that they should be a promising molecular target for PC treatment., [RefSeq, PubMed]; Functional studies of the mouse homolog, [RefSeq, PubMed]; Functional studies of the rat homolog, [RefSeq, PubMed]; Mutation of the pseudosubstrate domain abolished the inhibitory activity of PKIB on protein kinase A activity, but had no effect on the interaction with GPR39, cell protection and induction of SRE-dependent transcription, [RefSeq, PubMed]; PKIbeta may be a novel full-length gene related to human glioma and may provide a new way to gene therapy of glioma., [RefSeq, PubMed]; Results indicate that PKIB promotes cell proliferation and tumorigenesis by activating the PI3K/Akt pathway in non-small cell lung cancer (NSCLC), implying that this is an important underlying mechanism that affects the progression of NSCLC, [RefSeq, PubMed]; This gene encodes a member of the cAMP-dependent protein kinase inhibitor family. The encoded protein may play a role in the protein kinase A (PKA) pathway by interacting with the catalytic subunit of PKA, and overexpression of this gene may play a role in prostate cancer. 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B2RCK2;Q567T9;Q5T0Z7", "ec_number_list": "", "go_molecular_function": "GO:0004862 cAMP-dependent protein kinase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0032206 positive regulation of telomere maintenance", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9C010-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H252-4", "uniprot_id": "KCNH6_HUMAN", "mass": 106425.0, "length": 958, "protein_name": "Voltage-gated inwardly rectifying potassium channel KCNH6", "gene_name": "KCNH6", "organism": "Human", "refseq_name": "voltage-gated inwardly rectifying potassium channel KCNH6 isoform 4", "refseq_ac": "NP_001265849", "gene_names_uniprotkb": "KCNH6; ERG2", "gene_names_refseq": "ERG-2; ERG2; HERG2; KCNH6; Kv11.2; hERG-2", "protein_names_uniprotkb": "Voltage-gated inwardly rectifying potassium channel KCNH6; ERG-2; Eag-related protein 2; Ether-a-go-go-related gene potassium channel 2; Ether-a-go-go-related protein 2; Potassium voltage-gated channel subfamily H member 6; Voltage-gated potassium channel subunit Kv11.2; hERG-2; hERG2", "protein_names_refseq": "eag-related gene member 2; ether-a-go-go-related protein 2; potassium channel, voltage gated eag related subfamily H, member 6; potassium voltage-gated channel, subfamily H (eag-related), member 6; voltage-gated inwardly rectifying potassium channel KCNH6 isoform 4; voltage-gated inwardly rectifying potassium channel KCNH6; voltage-gated potassium channel subunit Kv11.2", "tax_id": 9606, "disease": "short QT syndrome (Disease Ontology:DOID:0050793); long QT syndrome 2 (Disease Ontology:DOID:0110645); heart conduction disease (Disease Ontology:DOID:10273); epilepsy (Disease Ontology:DOID:1826); long QT syndrome (Disease Ontology:DOID:2843); glucose metabolism disease (Disease Ontology:DOID:4194)", "pathway": " (hsa:81033); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "12634931;19139490;20393197;21231794;25783051;30590050;34529278;34556670;35818223;36217412", "class_list": "", "function": "Berberine is an insulin secretagogue targeting the KCNH6 potassium channel. Erratum:[Nat Commun. 2021 Oct 29;12(1):6342. doi: 10.1038/s41467-021-26635-8. PMID: 34716337] Publication Status: Online-Only, [RefSeq, PubMed]; Dysfunction of KCNH6 causes overstimulation of insulin secretion in the short term and beta cell failure in the long term., [RefSeq, PubMed]; KCNH6 Enhanced Hepatic Glucose Metabolism through Mitochondrial Ca(2+) Regulation and Oxidative Stress Inhibition. Publication Status: Online-Only, [RefSeq, PubMed]; Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Characterized by unusual gating kinetics by producing relatively small outward currents during membrane depolarization and large inward currents during subsequent repolarization which reflect a rapid inactivation during depolarization and quick recovery from inactivation but slow deactivation (closing) during repolarization. Activates even more slowly than KCNH2., [UniProtKB, UniProtKB]; Potassium Ion Channel Protein (KCNH) Levels in Patients with Fibromyalgia Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Prostate tumors of native men from West Africa show biologically distinct pathways-A comparative genomic study., [RefSeq, PubMed]; Results indicated that downregulation of miR-224 suppressed cell growth and resulted in the enhancement of cell apoptosis through activation of the ERG2-BAK-induced apoptosis pathway, [RefSeq, PubMed]; Transcripts for HERG1 were present in all adenomas and although transcripts for HERG2 and HERG3 were also detected, their expression level was more variable., [RefSeq, PubMed]; Voltage-gated potassium (Kv) 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. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 17, "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": "J9JID4;Q9BRD7", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005242 inward rectifier potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0086013 membrane repolarization during cardiac muscle cell action potential;GO:0086091 regulation of heart rate by cardiac conduction;GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9H252-4", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H478-1", "uniprot_id": "KCQ1D_HUMAN", "mass": 7384.0, "length": 68, "protein_name": "KCNQ1 downstream neighbor protein", "gene_name": "KCNQ1DN", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "KCNQ1DN; BWRT", "gene_names_refseq": "", "protein_names_uniprotkb": "KCNQ1 downstream neighbor protein; Beckwith-Wiedemann region transcript protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "11056398;11063728", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9H478-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HCI6-1", "uniprot_id": "K1586_HUMAN", "mass": 89673.0, "length": 787, "protein_name": "E3 SUMO-protein ligase KIAA1586", "gene_name": "KIAA1586", "organism": "Human", "refseq_name": "E3 SUMO-protein ligase KIAA1586 isoform b", "refseq_ac": "NP_001273203", "gene_names_uniprotkb": "KIAA1586", "gene_names_refseq": "KIAA1586", "protein_names_uniprotkb": "E3 SUMO-protein ligase KIAA1586; 2.3.2.-; E3 SUMO-protein transferase KIAA1586", "protein_names_refseq": "E3 SUMO-protein ligase KIAA1586 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:57691)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;24715725;25218447;25576301;25892735;26524493;26992070;27920218;28228285;28832583;28834231;29242379;29557506;29769354;30315122;30379171;30779550;31154438;31217245;31530632;31844290;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32983136;33392160;33592498;33912179;33936100;33968037;34087483;34509645;35051231;35580925;36010968;36284347;37217939;37938771", "class_list": "", "function": "E3 SUMO-protein ligase; facilitates UBE2I/UBC9-mediated SUMO2 modification of target proteins (PubMed:26524493)., [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": 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": "A8K4M3;Q8IW25", "ec_number_list": "", "go_molecular_function": "GO:0061665 SUMO ligase activity", "go_cellular_component": "", "go_biological_process": "GO:0016925 protein sumoylation", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9HCI6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UJ96-1", "uniprot_id": "KCNG2_HUMAN", "mass": 51240.0, "length": 466, "protein_name": "Voltage-gated potassium channel regulatory subunit KCNG2", "gene_name": "KCNG2", "organism": "Human", "refseq_name": "voltage-gated potassium channel regulatory subunit KCNG2", "refseq_ac": "NP_036415", "gene_names_uniprotkb": "KCNG2; KCNF2", "gene_names_refseq": "KCNF2; KCNG2; KV6.2", "protein_names_uniprotkb": "Voltage-gated potassium channel regulatory subunit KCNG2; Cardiac potassium channel subunit; Potassium voltage-gated channel subfamily G member 2; Voltage-gated potassium channel subunit Kv6.2", "protein_names_refseq": "cardiac potassium channel subunit; potassium channel, voltage gated modifier subfamily G, member 2; potassium voltage-gated channel, subfamily G, member 2; voltage-gated potassium channel regulatory subunit KCNG2; voltage-gated potassium channel subunit Kv6.2", "tax_id": 9606, "disease": "", "pathway": " (hsa:26251); (R-HSA-1296072); (R-HSA-381676)", "pathway_count": 3, "publication_count": 44, "publication_id_list": "10318832;10551266;11071853;12034449;12180908;12401793;12410638;12475787;12496249;12938160;13680124;14988243;15569269;15955806;15995848;16613879;16973695;17095603;17306374;17444618;17900700;18202100;18287102;18412318;18577758;19859570;19861722;20393197;21231794;26308095;27893789;32938616;33392160;34932366;35285753;35580925;7589461;8138058;8404634;8405712;8830891;9417641;9488697;9920805", "class_list": "", "function": "Regulatory alpha-subunit of the voltage-gated potassium (Kv) channel which, when coassembled with KCNB1, can modulate the kinetics and conductance-voltage relationship (PubMed:10551266). Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values (Probable). Potassium channel subunit that does not form functional channels by itself (Probable)., [UniProtKB, PubMed]; Voltage-gated potassium (Kv) 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. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit of the voltage-gated potassium channel. The delayed-rectifier type channels containing this subunit may contribute to cardiac action potential repolarization. [provided by RefSeq, Jul 2008]., [RefSeq]; Whole genome sequencing identifies a deletion mutation in the unknown-functional KCNG2 from familial sick sinus syndrome., [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": 18, "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:0015459 potassium channel regulator activity;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0001508 action potential;GO:0043266 regulation of potassium ion transport;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9UJ96-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UPP2-1", "uniprot_id": "IQEC3_HUMAN", "mass": 127621.0, "length": 1182, "protein_name": "IQ motif and SEC7 domain-containing protein 3", "gene_name": "IQSEC3", "organism": "Human", "refseq_name": "IQ motif and SEC7 domain-containing protein 3 isoform 1", "refseq_ac": "NP_001164209", "gene_names_uniprotkb": "IQSEC3; KIAA1110", "gene_names_refseq": "IQSEC3", "protein_names_uniprotkb": "IQ motif and SEC7 domain-containing protein 3", "protein_names_refseq": "IQ motif and SEC7 domain-containing protein 3 isoform 1; IQ motif and SEC7 domain-containing protein 3; IQ motif and Sec7 domain 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:440073); (R-HSA-9768919)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "14701734;17981261;20977903;21368041;23481700;24029068;24291638;24465693;25892735;27002143;27472814;29557506;29786170;30192525;30429286;31680123;31848261;32049026;34171305;34509645;35051231;35219498;35494241;38253038", "class_list": "", "function": "Acts as a guanine nucleotide exchange factor (GEF) for ARF1., [UniProtKB, PubMed, UniProtKB, UniProtKB]; IQSEC3 Deletion Impairs Fear Memory Through Upregulation of Ribosomal S6K1 Signaling in the Hippocampus., [RefSeq, PubMed]; Loss of IQSEC3 Disrupts GABAergic Synapse Maintenance and Decreases Somatostatin Expression in the Hippocampus. Erratum:[Cell Rep. 2024 May 28;43(5):114254. doi: 10.1016/j.celrep.2024.114254. PMID: 38748876], [RefSeq, PubMed]; The genomic and clinical landscape of fetal akinesia. Erratum:[Genet Med. 2020 Aug;22(8):1426-1428. doi: 10.1038/s41436-020-0839-9. PMID: 32451403], [RefSeq, PubMed]; These data reveal that IQSEC3 acts together with gephyrin to regulate inhibitory synapse development., [RefSeq, PubMed]; These results suggest that KIAA1110 is expressed specifically in mature neurons and may play an important role in the secretion pathway as a GEF for ARF1., [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": 29, "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": "A6NIF2;A6NKV9;Q8TB43", "ec_number_list": "", "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005829 cytosol;GO:0014069 postsynaptic density;GO:0060077 inhibitory synapse;GO:0098690 glycinergic synapse", "go_biological_process": "GO:0016192 vesicle-mediated transport;GO:0032012 regulation of ARF protein signal transduction;GO:0099149 regulation of postsynaptic neurotransmitter receptor internalization", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9UPP2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y573-1", "uniprot_id": "IPP_HUMAN", "mass": 65261.0, "length": 584, "protein_name": "Actin-binding protein IPP", "gene_name": "IPP", "organism": "Human", "refseq_name": "actin-binding protein IPP isoform 2", "refseq_ac": "NP_001138821", "gene_names_uniprotkb": "IPP; KLHL27", "gene_names_refseq": "IPP; KLHL27", "protein_names_uniprotkb": "Actin-binding protein IPP; IPP; Intracisternal A particle-promoted polypeptide; Kelch-like protein 27", "protein_names_refseq": "actin-binding protein IPP isoform 2; actin-binding protein IPP; kelch-like family member 27; kelch-like protein 27", "tax_id": 9606, "disease": "", "pathway": " (hsa:3652)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "10072760;23481700;24715725;25418920;25576301;25645385;26154972;26992070;27600516;27846572;28218747;28228285;28832583;28834231;28904123;29242379;29371260;29393594;29437277;29557506;29632046;29632711;29786170;30315122;30429286;30779550;30833945;31154438;31217245;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32592097;32751711;32897882;32938616;32983136;33298915;33392160;33537174;33592498;33691108;33717175;33968037;34171305;34185709;34211107;34561969;34932366;35051231;35318648;35580925;36010968;36241641;36284347;37938771;8432546", "class_list": "", "function": "Integrin-linked kinase (ILK) regulates KRAS, IPP complex and Ras suppressor-1 (RSU1) promoting lung adenocarcinoma progression and poor survival., [RefSeq, PubMed]; May play a role in organizing the actin cytoskeleton., [UniProtKB]; MicroRNA-Dependent Targeting of RSU1 and the IPP Adhesion Complex Regulates the PTEN/PI3K/AKT Signaling Pathway in Breast Cancer Cell Lines. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 50 amino acid repeat which interacts with actin. Transcript variants have been described but their full-length 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A2A6V4;D3DQ11;Q8N5C3", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0015629 actin cytoskeleton;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9Y573-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6K8-1", "uniprot_id": "KAD5_HUMAN", "mass": 63333.0, "length": 562, "protein_name": "Adenylate kinase isoenzyme 5", "gene_name": "AK5", "organism": "Human", "refseq_name": "adenylate kinase isoenzyme 5 isoform 2", "refseq_ac": "NP_036225", "gene_names_uniprotkb": "AK5", "gene_names_refseq": "AK5; AK6", "protein_names_uniprotkb": "Adenylate kinase isoenzyme 5; 2.7.4.3; 2.7.4.6; AK 5; ATP-AMP transphosphorylase 5", "protein_names_refseq": "AK 5; ATP-AMP transphosphorylase 5; adenylate kinase 6; adenylate kinase isoenzyme 5 isoform 2; adenylate kinase isoenzyme 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:26289); (R-HSA-499943)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10215863;10453732;10618642;10716435;10799505;10884394;10899599;11237011;11277919;11278511;11517226;11796141;11912132;12972261;13211603;14729598;15630091;16179339;16373698;16756507;16820675;16959763;17320107;177353;17824959;18469;1851158;18635542;18997010;19176520;19220460;19647735;19766732;21080915;211388;211390;22847445;23416111;2542324;25645385;2656695;2668278;27288770;29557506;31799658;32387766;32938616;33968037;34135408;34171305;34509645;35051231;36010968;40615;5484814;6182143;6248551;7685356;7851394;8448179;8663313;9488696;9677297", "class_list": "", "function": "AK5, a novel prognosis marker, inhibits apoptosis and promotes autophagy as well as proliferation in human gastric cancer., [RefSeq, PubMed]; Data demonstrate that human adenylate kinase 5 has two separate functional domains and that both have enzymatic activity., [RefSeq, PubMed]; Identification of novel DNA hypermethylation of the adenylate kinase 5 promoter in colorectal adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Active on AMP and dAMP with ATP as a donor. When GTP is used as phosphate donor, the enzyme phosphorylates AMP, CMP, and to a small extent dCMP. Also displays broad nucleoside diphosphate kinase activity., [UniProtKB, PubMed, PubMed]; Results indicate that AK5 expression significantly decreased in temporal lobe epilepsy: the expression of AK5 in epileptic brain tissue may play important roles in epilepsy, especially refractory epilepsy, [RefSeq, PubMed]; This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q5U622;Q6FH66;Q7Z4T5;Q86YS0;Q8N464;Q96EC9", "ec_number_list": "2.7.4.10;2.7.4.6;2.7.4.3;2.7.4.4;3.1.11.-;2.7.11.1;2.7.13.3;2.7.4.18;3.1.24.-;2.7.4.14", "go_molecular_function": "GO:0004017 AMP kinase activity;GO:0005524 ATP binding;GO:0004550 nucleoside diphosphate kinase activity;GO:0019205 nucleobase-containing compound kinase activity;GO:0016776 phosphotransferase activity, phosphate group as acceptor", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006172 ADP biosynthetic process;GO:0006173 dADP biosynthetic process;GO:0009220 pyrimidine ribonucleotide biosynthetic process;GO:0046034 ATP metabolic process;GO:0009117 nucleotide metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9Y6K8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15550-1", "uniprot_id": "KDM6A_HUMAN", "mass": 154177.0, "length": 1401, "protein_name": "Lysine-specific demethylase 6A", "gene_name": "KDM6A", "organism": "Human", "refseq_name": "lysine-specific demethylase 6A isoform 3", "refseq_ac": "NP_066963", "gene_names_uniprotkb": "KDM6A; UTX", "gene_names_refseq": "KABUK2; KDM6A; UTX; bA386N14.2", "protein_names_uniprotkb": "Lysine-specific demethylase 6A; 1.14.11.68; Histone demethylase UTX; Ubiquitously-transcribed TPR protein on the X chromosome; Ubiquitously-transcribed X chromosome tetratricopeptide repeat protein; [histone H3]-trimethyl-L-lysine(27) demethylase 6A", "protein_names_refseq": "[histone H3]-trimethyl-L-lysine(27) demethylase 6A; bA386N14.2 (ubiquitously transcribed X chromosome tetratricopeptide repeat protein (UTX)); histone demethylase UTX; lysine (K)-specific demethylase 6A; lysine-specific demethylase 6A isoform 3; ubiquitously transcribed tetratricopeptide repeat protein X-linked; ubiquitously-transcribed TPR gene on the X chromosome", "tax_id": 9606, "disease": "triple-receptor negative breast cancer (Disease Ontology:DOID:0060081); Kabuki syndrome (Disease Ontology:DOID:0060473); chronic myelomonocytic leukemia (Disease Ontology:DOID:0080188); adenoid cystic carcinoma (Disease Ontology:DOID:0080202); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); rectum adenocarcinoma (Disease Ontology:DOID:1996); colon adenocarcinoma (Disease Ontology:DOID:234); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); bladder urothelial carcinoma (Disease Ontology:DOID:4006); renal cell carcinoma (Disease Ontology:DOID:4450); lung small cell carcinoma (Disease Ontology:DOID:5409); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); malignant pleural mesothelioma (Disease Ontology:DOID:7474); colorectal cancer (Disease Ontology:DOID:9256); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:7403); (R-HSA-3214842); (R-HSA-5617472); (R-HSA-9772755); (R-HSA-9818564); (R-HSA-9821002); (R-HSA-9841922)", "pathway_count": 7, "publication_count": 212, "publication_id_list": "10425206;10558993;10777502;10835357;10882139;11027271;11237011;12393701;12482972;12670868;12829629;1310260;14636557;14992727;15199122;15302935;15345747;15620353;15867264;16079151;16227571;16239140;16362057;16380219;16549775;16603237;16603238;16732292;16732293;16738407;16829959;16878130;16892064;16959974;17185360;17310255;17320160;17320161;17320163;17351631;17355966;17363312;17428788;17500065;1756725;17612494;17660710;17671196;17713478;17761849;17761950;17851529;17925232;17947579;17998332;18003914;18452278;18598942;18781158;18829457;18829459;18838386;18838538;19043829;19103755;19115252;19124460;19172745;19187761;19232136;19413330;19502796;19556245;19690332;19727073;19747919;1975088;19782034;19843542;19854132;20018852;20023638;20068231;20084082;20085832;20129925;20208542;20457893;20575550;20622853;20622854;20716525;20961854;21106533;21124902;21131905;21135039;21220120;21532585;21828135;22002947;22197486;22266653;22327296;22420752;22569366;22615488;22652693;22665483;22705304;22879880;23186163;23219899;23301498;23508102;23534758;23630040;23995757;24174538;24244196;24312487;24368734;24586203;24680668;24715725;25101834;25135475;25561738;25593305;2570724;25913784;26324722;26886794;26992070;27563068;27698142;27760318;27920218;28182322;28218747;28398509;28832583;28904123;29138278;29237092;29242379;29393594;29437277;29493099;29557506;29563586;29897600;29937342;30059200;30429286;30620550;31217245;31400120;31485071;31544921;31844290;32157095;32350084;32502341;32938616;32983136;33329381;33592498;33657400;33717175;33912179;33968037;34012049;34019948;34171305;34846842;34933446;35033534;35051231;35132862;35190547;35254053;35314832;35439434;35580925;36010968;37217939;37541260;37800171;37938771;38171564;38665916;39046770;39531497;40307207;40596516;7488013;7501971;7831296;7906964;7908827;8521497;8521498;8674428;8759021;9065481;9171241;9218805;9272954;9381176;9482740;9744270", "class_list": "", "function": "Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code (PubMed:17713478, PubMed:17761849, PubMed:17851529). Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27' (PubMed:17713478, PubMed:17761849, PubMed:17851529). Plays a central role in regulation of posterior development, by regulating HOX gene expression (PubMed:17851529). Demethylation of 'Lys-27' of histone H3 is concomitant with methylation of 'Lys-4' of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A (PubMed:17761849). Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; KDM6A regulates immune response genes in multiple myeloma., [RefSeq, PubMed]; SETting up the genome: KMT2D and KDM6A genomic function in the Kabuki syndrome craniofacial developmental disorder. Review article, [RefSeq, PubMed]; Study shows that UTX is a di- and trimethyl H3K27 demethylase; results suggest a concerted mechanism for transcriptional activation in which cycles of H3K4 methylation by MLL2/3 are linked with the demethylation of H3K27 through UTX, [RefSeq, PubMed]; This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]., [RefSeq]; [Clinical characteristics and genetic counseling for a three-generation Chinese pedigree with recurrent fetal Kabuki syndrome due to variant of KDM6A gene]., [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": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 171, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 20, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q52LL9;Q5JVQ7", "ec_number_list": "1.14.19.1;1.14.11.68;2.1.1.364;2.3.1.51;3.5.1.-;3.5.1.98;2.3.2.-;3.1.1.32;3.1.1.34;3.1.13.-;2.7.7.48;2.7.7.6;6.2.1.3;6.2.1.24;6.2.1.15;2.7.11.22;2.7.11.23;3.1.1.23;3.1.1.79;2.3.1.48;2.3.1.-;3.1.3.4;2.1.1.356;2.7.11.2;1.14.11.65;3.1.1.4;3.1.1.3;2.3.1.20;2.3.1.76;6.2.1.1;6.2.1.17;2.3.1.15;2.3.1.199;3.1.13.4", "go_molecular_function": "GO:0046872 metal ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0031490 chromatin DNA binding;GO:0032452 histone demethylase activity;GO:0071558 histone H3K27me2/H3K27me3 demethylase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035097 histone methyltransferase complex;GO:0044666 MLL3/4 complex", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0007507 heart development;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 22.2, "record_id": "O15550-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MYU2-1", "uniprot_id": "KCNU1_HUMAN", "mass": 129543.0, "length": 1149, "protein_name": "Potassium channel subfamily U member 1", "gene_name": "KCNU1", "organism": "Human", "refseq_name": "potassium channel subfamily U member 1", "refseq_ac": "NP_001027006", "gene_names_uniprotkb": "KCNU1; KCNMA3; KCNMC1; SLO3", "gene_names_refseq": "KCNMC1; KCNU1; KCa5.1; KCa5; Kcnma3; SPGF79; Slo3", "protein_names_uniprotkb": "Potassium channel subfamily U member 1; Calcium-activated potassium channel subunit alpha-3; Calcium-activated potassium channel, subfamily M subunit alpha-3; KCa5; Slowpoke homolog 3", "protein_names_refseq": "Calcium-activated potassium channel subunit alpha-3; Calcium-activated potassium channel, subfamily M subunit alpha-3; Slowpoke homolog 3; potassium channel subfamily U member 1; potassium channel, subfamily U, member 1", "tax_id": 9606, "disease": "withdrawal disorder (Disease Ontology:DOID:0060001); paroxysmal nonkinesigenic dyskinesia 3 (Disease Ontology:DOID:0070442); spermatogenic failure 79 (Disease Ontology:DOID:0070578); heart conduction disease (Disease Ontology:DOID:10273); Duchenne muscular dystrophy (Disease Ontology:DOID:11723); alcohol use disorder (Disease Ontology:DOID:1574); substance-related disorder (Disease Ontology:DOID:303)", "pathway": " (hsa:157855); (R-HSA-1300642)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "11237011;11595941;17227845;17460039;20144758;20648059;21412338;21412339;23129643;23530196;24670955;26791533;28377504;29557506;31844290;32157095;34087483;34980136;35051231;35551387;35580925;36649421;37074911;38267364;38637987;9452476", "class_list": "", "function": "Bi-allelic variants in KCNU1 cause impaired acrosome reactions and male infertility., [RefSeq, PubMed]; Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that sperm-specific genes can evolve rapidly and that natural genetic variation may have led to a SLO3 variant that differs from wild type in both pH and intracellular Ca(2+) sensitivities., [RefSeq, PubMed]; Testis-specific potassium channel activated by both intracellular pH and membrane voltage that mediates export of K(+) (PubMed:23129643, PubMed:24670955, PubMed:36649421, PubMed:38267364, PubMed:9452476). Represents the primary spermatozoan K(+) current. The channel underlies a pH-triggered membrane hyperpolarization during the process of sperm capacitation, as sperm encounter the alkaline environment near the ovum in the female reproductive tract, thereby playing an essential for male fertility (PubMed:34980136, PubMed:35551387, PubMed:36649421)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The authors conclude that Slo3 represents the principal K(+) channel in human sperm that carries the Ca(2+)-activated IKSper current. Publication Status: Online-Only, [RefSeq, PubMed]; These results present insights into the function of a protein expected to be critical for human reproduction and provide a framework to study the mechanism of pH gating in SLO3 channels., [RefSeq, PubMed]; This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]; Transmembrane determinants of voltage-gating differences between BK (Slo1) and Slo3 channels., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 51, "reported_interactions": 0, "missing_score": 9474, "biomarker_type": "", "glycan_count": 4, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DYE4", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005267 potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0036126 sperm flagellum;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0022414 reproductive process;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "A8MYU2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7RTS7-1", "uniprot_id": "K2C74_HUMAN", "mass": 57865.0, "length": 529, "protein_name": "Keratin, type II cytoskeletal 74", "gene_name": "KRT74", "organism": "Human", "refseq_name": "keratin, type II cytoskeletal 74", "refseq_ac": "NP_778223", "gene_names_uniprotkb": "KRT74; K6IRS4; KB37; KRT5C; KRT6IRS4", "gene_names_refseq": "ADWH; ECTD7; HTSS2; HYPT3; K6IRS4; KRT5C; KRT6IRS4; KRT74", "protein_names_uniprotkb": "Keratin, type II cytoskeletal 74; CK-74; Cytokeratin-74; K5C; K74; Keratin-5c; Keratin-74; Type II inner root sheath-specific keratin-K6irs4; Type-II keratin Kb37", "protein_names_refseq": "CK-74; K5C; K74; cytokeratin-74; keratin 5c; keratin 6 irs4; keratin 74, type II; keratin, type II cytoskeletal 74; type II inner root sheath-specific keratin-K6irs4; type-II keratin Kb37", "tax_id": 9606, "disease": "hypotrichosis 3 (Disease Ontology:DOID:0110700); autosomal dominant woolly hair (Disease Ontology:DOID:0111573); ectodermal dysplasia 7 (Disease Ontology:DOID:0111660)", "pathway": " (hsa:121391); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 73, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11237011;11350120;11380615;11590230;11683385;12648212;12902340;15033990;15337775;15373777;15797384;15803139;16061697;16382671;16639001;16874310;1691188;1694855;1714783;17515931;17521629;17562024;17596512;17975119;18843291;19023099;19190773;19194479;19413330;19651622;20068231;20179351;20346438;20657595;20667819;20940292;21188418;21439340;21654840;21997417;23481192;23629652;2414304;24714551;25208914;25926655;26390218;27452731;28510447;29314611;29393594;29786170;29789417;30524438;33298915;33912179;34087483;34171305;35051231;36010968;41018975;7543090;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "Data provide evidence implicating that the KRT74 gene in the pathogenesis of autosomal dominant hair loss disorders., [RefSeq, PubMed]; Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable)., [UniProtKB]; Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.[provided by RefSeq, Jun 2009]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Report on the cloning of two novel human type II keratin cDNAs, K6irs3 and K6irs4, which were specifically expressed in the inner root sheath of the hair follicle, [RefSeq, PubMed]; Single Nucleotide Polymorphisms in KRT74 gene is associated with woolly hair., [RefSeq, PubMed]; These observations show for the first time that homozygosity for a KRT74 missense variant may be associated with autosomal recessive pure hair and nail ectodermal dysplasia. 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": 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": "B5MD61;Q86Y45", "ec_number_list": "", "go_molecular_function": "GO:1990254 keratin filament binding;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0045095 keratin filament", "go_biological_process": "GO:0031424 keratinization;GO:0045109 intermediate filament organization;GO:0045104 intermediate filament cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q7RTS7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60229-1", "uniprot_id": "KALRN_HUMAN", "mass": 340261.0, "length": 2986, "protein_name": "Kalirin", "gene_name": "KALRN", "organism": "Human", "refseq_name": "kalirin isoform 1", "refseq_ac": "NP_001019831", "gene_names_uniprotkb": "KALRN; DUET; DUO; HAPIP; TRAD", "gene_names_refseq": "ARHGEF24; CHDS5; DUET; DUO; HAPIP; KALNC2; KALRN; TRAD", "protein_names_uniprotkb": "Kalirin; 2.7.11.1; Huntingtin-associated protein-interacting protein; Protein Duo; Serine/threonine-protein kinase with Dbl- and pleckstrin homology domain", "protein_names_refseq": "huntingtin-associated protein interacting protein (duo); kalirin isoform 1; serine/threonine-protein kinase with Dbl- and pleckstrin homology domain", "tax_id": 9606, "disease": "cerebral atherosclerosis (Disease Ontology:DOID:12720); epilepsy (Disease Ontology:DOID:1826); coronary artery disease (Disease Ontology:DOID:3393); cerebral infarction (Disease Ontology:DOID:3526)", "pathway": " (hsa:8997); (R-HSA-193648); (R-HSA-3928662); (R-HSA-416476); (R-HSA-416482); (R-HSA-5687128); (R-HSA-8980692); (R-HSA-9013149); (R-HSA-9013408)", "pathway_count": 9, "publication_count": 448, "publication_id_list": 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"class_list": "", "function": "Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]., [RefSeq]; KALRN mutations promote antitumor immunity and immunotherapy response in cancer., [RefSeq, PubMed]; Kalirin-RAC controls nucleokinetic migration in ADRN-type neuroblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes the exchange of GDP by GTP. Activates specific Rho GTPase family members, thereby inducing various signaling mechanisms that regulate neuronal shape, growth, and plasticity, through their effects on the actin cytoskeleton. Induces lamellipodia independent of its GEF activity., [UniProtKB, PubMed]; SNPs of the KALRN gene are associated with intracranial atherosclerotic stenosis in the northern Chinese population., [RefSeq, PubMed]; Synaptic Kalirin-7 and Trio Interactomes Reveal a GEF Protein-Dependent Neuroligin-1 Mechanism of Action., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 68, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A804HLI0;A8MSI4;C9JQ37;J3QSW6;Q6ZN45;Q8TBQ5;Q9NSZ4;Q9Y2A5", "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;2.7.10.1;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.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0014069 postsynaptic density;GO:0015629 actin cytoskeleton;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0035556 intracellular signal transduction;GO:0048013 ephrin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 45.1, "record_id": "O60229-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60938-1", "uniprot_id": "KERA_HUMAN", "mass": 40509.0, "length": 352, "protein_name": "Keratocan", "gene_name": "KERA", "organism": "Human", "refseq_name": "keratocan precursor", "refseq_ac": "NP_008966", "gene_names_uniprotkb": "KERA; SLRR2B", "gene_names_refseq": "CNA2; KERA; KTN; SLRR2B", "protein_names_uniprotkb": "Keratocan; KTN; Keratan sulfate proteoglycan keratocan", "protein_names_refseq": "keratan sulfate proteoglycan keratocan; keratocan precursor", "tax_id": 9606, "disease": "cornea plana (Disease Ontology:DOID:0060287); keratoconus (Disease Ontology:DOID:10126); arcus senilis (Disease Ontology:DOID:11342); corneal dystrophy (Disease Ontology:DOID:2566)", "pathway": " (hsa:11081); (R-HSA-2022854); (R-HSA-2022857); (R-HSA-3656225); (R-HSA-3656243); (R-HSA-3656244)", "pathway_count": 6, "publication_count": 58, "publication_id_list": "10206952;10491328;10504389;10565548;10802664;11017086;11030741;11042166;11042394;11283017;11588157;11683372;11726611;11754099;11821425;11901181;12218059;12888274;1463457;15013869;1522213;15370545;15486459;15560372;15620693;15647514;16335952;17021253;17120046;1714903;1794986;1907800;1928092;20232353;21907012;22940367;23252400;23834557;25967529;26099342;28677912;28799822;2971395;29741879;3196333;32502341;35051231;35289036;38034954;5822067;7213753;8333853;8611500;8920913;9405439;9417100;9521684;9597550", "class_list": "glycogene", "function": "A novel KERA variant, p.(Ile225Thr), was detected that segregates with Cornea plana in the homozygous form. Publication Status: Online-Only, [RefSeq, PubMed]; KERA mutation c.740A>G has been identified to date in three different populations, which makes it the most frequently occurring mutation in patients with cornea plana, [RefSeq, PubMed]; May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix., [UniProtKB, PubMed, PubMed]; The mutation that we report here leads to the deletion of a conserved amino acid (p.Phe125del) from the third LRR motif of the keratocan protein, which might lead to an abnormal tertiary structure of the protein, thereby leading to the disease., [RefSeq, PubMed]; The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).[provided by RefSeq, May 2010]., [RefSeq]; We expand the phenotypic spectrum of biallelic KERA mutations in this report of a boy with juvenile corneal ectasia who was found to harbor an underlying novel homozygous mutation in the gene., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 532, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 4, "glyco_site_count": 5, "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:0005796 Golgi lumen;GO:0031012 extracellular matrix;GO:0043202 lysosomal lumen", "go_biological_process": "GO:0007601 visual perception", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "O60938-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75037-1", "uniprot_id": "KI21B_HUMAN", "mass": 182662.0, "length": 1637, "protein_name": "Kinesin-like protein KIF21B", "gene_name": "KIF21B", "organism": "Human", "refseq_name": "kinesin-like protein KIF21B isoform 1", "refseq_ac": "NP_001239029", "gene_names_uniprotkb": "KIF21B; KIAA0449", "gene_names_refseq": "KIF21B", "protein_names_uniprotkb": "Kinesin-like protein KIF21B", "protein_names_refseq": "kinesin-like protein KIF21B isoform 1; kinesin-like protein KIF21B", "tax_id": 9606, "disease": "", "pathway": " (hsa:23046); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 3, "publication_count": 150, "publication_id_list": "10052452;10318838;10445031;10559959;10761932;10921873;11172815;11493604;11689559;11703931;11726511;11739780;11748249;11782313;12047556;12070132;12368902;1406973;14504276;14654841;15029241;15037235;15272311;15326200;15616190;15632110;15813748;16030262;1607388;16262723;1631136;16571679;16633337;1680566;16912714;16926190;16940185;17113389;17253781;17346968;17360540;17429068;17451557;17538014;17760859;17927562;17956946;18182008;18287528;18342609;18524849;18669648;18809720;1898986;19015319;19109418;19116309;19151722;19164740;19338388;19369418;1957170;19631211;19690332;19758564;20005805;20007504;20136777;20357002;20427317;20462495;20534429;20587413;20637885;21219331;21406692;2142332;21550981;21689688;21844168;22013193;22094269;22304919;23186163;23396477;24714562;24715725;2521221;2522352;25364732;25436559;25492864;25880248;26154972;26375851;26728094;26992070;27846572;28290984;28411811;28904123;29351928;29493099;29632711;30315122;30429286;3130248;3134048;31530632;31844290;31848261;32157095;32357974;32387766;32415109;32983136;33346730;33633747;33717175;33912179;33981976;34509645;34561969;34932366;35051231;35341446;35580925;36010968;7528108;7539720;7822426;7844144;7929562;8001155;8128252;8132710;8221884;8253837;8505331;8548803;8599929;8602245;8620540;9114004;9177194;9244307;9288971;9405360;9751720;9990005", "class_list": "", "function": "Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B as susceptibility loci, [RefSeq, PubMed]; Data show the association of SNPs in KIF21B with multiple sclerosis in a Belgian study population. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Kinesin-4 KIF21B limits microtubule growth to allow rapid centrosome polarization in T cells. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity. Publication Status: Online-Only, [RefSeq, PubMed]; Plus-end directed microtubule-dependent motor protein which displays processive activity. Is involved in regulation of microtubule dynamics, synapse function and neuronal morphology, including dendritic tree branching and spine formation. Plays a role in lerning and memory. Involved in delivery of gamma-aminobutyric acid (GABA(A)) receptor to cell surface., [UniProtKB, UniProtKB]; Targeting kinesin family member 21B by miR-132-3p represses cell proliferation, migration and invasion in gastric cancer., [RefSeq, PubMed]; This gene encodes a member of the kinesin superfamily. Kinesins are ATP-dependent microtubule-based motor proteins that are involved in the intracellular transport of membranous organelles. Single nucleotide polymorphisms in this gene are associated with inflammatory bowel disease and multiple sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]; Thus, KIF21B combines microtubule-binding and regulatory activities that together constitute an autonomous microtubule pausing factor. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 45, "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": "B2RP62;B7ZMI0;Q5T4J3", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity;GO:0003777 microtubule motor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0030425 dendrite;GO:0030426 growth cone;GO:0005871 kinesin complex", "go_biological_process": "GO:0007018 microtubule-based movement", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "O75037-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P22612-1", "uniprot_id": "KAPCG_HUMAN", "mass": 40434.0, "length": 351, "protein_name": "cAMP-dependent protein kinase catalytic subunit gamma", "gene_name": "PRKACG", "organism": "Human", "refseq_name": "cAMP-dependent protein kinase catalytic subunit gamma", "refseq_ac": "NP_002723", "gene_names_uniprotkb": "PRKACG", "gene_names_refseq": "BDPLT19; KAPG; PKACg; PRKACG", "protein_names_uniprotkb": "cAMP-dependent protein kinase catalytic subunit gamma; 2.7.11.11; PKA C-gamma", "protein_names_refseq": "PKA C-gamma; cAMP-dependent protein kinase catalytic subunit gamma; protein kinase, cAMP-dependent, catalytic, gamma; protein kinase, cAMP-dependent, gamma catalytic subunit; serine(threonine) protein kinase", "tax_id": 9606, "disease": "platelet-type bleeding disorder 19 (Disease Ontology:DOID:0111048); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:5568); (R-HSA-111931); (R-HSA-163358); (R-HSA-163560); (R-HSA-163615); (R-HSA-164378); (R-HSA-180024); (R-HSA-381676); (R-HSA-392517); (R-HSA-422356); (R-HSA-432040); (R-HSA-4420097); (R-HSA-442720); (R-HSA-5610780); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5610787); (R-HSA-5621575); (R-HSA-5687128); (R-HSA-8853659); (R-HSA-8963896); (R-HSA-9010642); (R-HSA-9634597); (R-HSA-9634600); (R-HSA-9660821); (R-HSA-9664323); (R-HSA-983231); (R-HSA-9856530)", "pathway_count": 28, "publication_count": 565, "publication_id_list": 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"class_list": "", "function": "Cyclic AMP-dependent protein kinase (PKA) consists of two catalytic subunits and a regulatory subunit dimer. This gene encodes the gamma form of its catalytic subunit. The gene is intronless and is thought to be a retrotransposon derived from the gene for the alpha form of the PKA catalytic subunit. [provided by RefSeq, Jul 2008]., [RefSeq]; Findings show that PKIB and PKA-C kinase can have critical functions of aggressive phenotype of PCs through Akt phosphorylation and that they should be a promising molecular target for PC treatment., [RefSeq, PubMed]; In human primary pigmented nodular adrenocortical disease tissues, dexamethasone paradoxically stimulates cortisol release through a glucocorticoid receptor-mediated effect on PKA catalytic subunits., [RefSeq, PubMed]; Phosphorylates a large number of substrates in the cytoplasm and the nucleus., [UniProtKB]; Results suggest that PKA can negatively regulate ERalpha, at least in part, through FoxH1., [RefSeq, PubMed]; The missense p.74Ile>Met PRKACG mutation is associated with a marked defect in proplatelet formation and a low level in filamin A 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O60850;Q5VZ02;Q86YI1", "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;7.6.2.1;2.7.2.3;2.7.11.23;2.7.10.1;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;1.14.13.39;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;3.1.1.23;3.1.1.79;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:0019870 potassium channel inhibitor activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0004691 cAMP-dependent protein kinase activity;GO:0034237 protein kinase A regulatory subunit binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005952 cAMP-dependent protein kinase complex;GO:0097546 ciliary base", "go_biological_process": "GO:0003091 renal water homeostasis;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007283 spermatogenesis;GO:0032024 positive regulation of insulin secretion;GO:0008584 male gonad development", "synthesized_glycan_count": 0, "hit_score": 56.6, "record_id": "P22612-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16558-1", "uniprot_id": "KCMB1_HUMAN", "mass": 21797.0, "length": 191, "protein_name": "Calcium-activated potassium channel subunit beta-1", "gene_name": "KCNMB1", "organism": "Human", "refseq_name": "calcium-activated potassium channel subunit beta-1", "refseq_ac": "NP_004128", "gene_names_uniprotkb": "KCNMB1", "gene_names_refseq": "BKbeta1; K(VCA)beta; KCNMB1; SLO-BETA; hbeta1; hslo-beta; k(VCA)beta-1; slo-beta-1", "protein_names_uniprotkb": "Calcium-activated potassium channel subunit beta-1; BK channel subunit beta-1; BKbeta1; BKbeta; Calcium-activated potassium channel subunit beta; Calcium-activated potassium channel, subfamily M subunit beta-1; Charybdotoxin receptor subunit beta-1; Hbeta1; K(VCA)beta-1; Maxi K channel subunit beta-1; Slo-beta-1; Slo-beta", "protein_names_refseq": "BK channel beta subunit 1; BK channel subunit beta-1; MaxiK channel beta-subunit 1; big potassium channel beta subunit 1; calcium-activated potassium channel subunit beta-1; calcium-activated potassium channel, subfamily M subunit beta-1; charybdotoxin receptor subunit beta-1; large conductance Ca2+-activated K+ channel beta 1 subunit; maxi K channel subunit beta-1; potassium channel subfamily M regulatory beta subunit 1; potassium large conductance calcium-activated channel, subfamily M, beta member 1", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obsolete hypertension, diastolic, resistance to (MONDO:MONDO:0044273)", "pathway": " (hsa:3779); (R-HSA-1296052); (R-HSA-418457); (R-HSA-9662360); (R-HSA-9667769)", "pathway_count": 5, "publication_count": 27, "publication_id_list": "10025409;10489376;10792058;11163272;11752216;12136044;12434576;15057310;16990611;19074509;20178789;20859064;25502872;25892735;28429615;28750098;29242379;29557506;29769354;29850792;30779550;31486669;32350084;8557689;8612769;8764643;8799178", "class_list": "", "function": "Decreased protein expression and altered intrinsic properties of BKbeta1 channels mediates abnormal vasodilation in the coronary microvasculature of type 2 diabetics., [RefSeq, PubMed]; Expression of vascular large-conductance calcium-activated potassium channel Kcnmb1 is regulated by Nrf2 signaling., [RefSeq, PubMed]; MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the product of this gene, the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. [provided by RefSeq, Jul 2008]., [RefSeq]; Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Increases the apparent Ca(2+)/voltage sensitivity of the KCNMA1 channel. It also modifies KCNMA1 channel kinetics and alters its pharmacological properties. It slows down the activation and the deactivation kinetics of the channel. Acts as a negative regulator of smooth muscle contraction by enhancing the calcium sensitivity to KCNMA1. Its presence is also a requirement for internal binding of the KCNMA1 channel opener dehydrosoyasaponin I (DHS-1) triterpene glycoside and for external binding of the agonist hormone 17-beta-estradiol (E2). Increases the binding activity of charybdotoxin (CTX) toxin to KCNMA1 peptide blocker by increasing the CTX association rate and decreasing the dissociation rate., [UniProtKB]; That epigenetic upregulation of KCNMB1 contributes to increased large-conductance (Big) potassium channel activity in idiopathic pulmonary fibrosis fibroblasts, [RefSeq, PubMed]; These results provide further insights into the mechanism of modulation of the different N-terminal regions of the BKCa channel by beta-subunits. 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": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O00707;O00708;P78475;Q53YR0;Q8TAX3;Q93005", "ec_number_list": "", "go_molecular_function": "GO:0015459 potassium channel regulator activity;GO:0015269 calcium-activated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0006813 potassium ion transport;GO:0005513 detection of calcium ion", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q16558-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5SVS4-1", "uniprot_id": "KMCP1_HUMAN", "mass": 32475.0, "length": 291, "protein_name": "Kidney mitochondrial carrier protein 1", "gene_name": "SLC25A30", "organism": "Human", "refseq_name": "kidney mitochondrial carrier protein 1 isoform 1", "refseq_ac": "NP_001010875", "gene_names_uniprotkb": "SLC25A30; KMCP1; UCP6", "gene_names_refseq": "KMCP1; SLC25A30", "protein_names_uniprotkb": "Kidney mitochondrial carrier protein 1; Solute carrier family 25 member 30; Uncoupling protein 6", "protein_names_refseq": "kidney mitochondrial carrier protein 1 isoform 1; kidney mitochondrial carrier protein 1; uncoupling protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:253512)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;23266187;25576301;26387735;26992070;29351928;31356773;31844290;32157095;33912179;35051231;35580925", "class_list": "", "function": "Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier protein family, such as SLC25A30 (Haguenauer et al., 2005 [PubMed 15809292]).[supplied by OMIM, Mar 2008]., [RefSeq]; Antiporter that transports inorganic anions (sulfate, sulfite, thiosulfate and phosphate) and, to a lesser extent, a variety of dicarboxylates (e.g. malonate, malate and citramalate) and, even more so, aspartate (PubMed:31356773). The sulfate/sulfate exchange is much higher than the phosphate/phosphate and malate/malate exchanges (PubMed:31356773). The transport affinities is higher for sulfate and thiosulfate than for any other substrate (PubMed:31356773). May catalyze the export of sulfite and thiosulfate (the hydrogen sulfide degradation products) from the mitochondria, thereby modulating the level of the hydrogen sulfide (Probable). Also may mediate a very low unidirectional transport of sulfate, phosphate and (S)-malate (PubMed:31356773)., [UniProtKB, PubMed]; 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": 6, "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": "B2RN96;B4DZK3;F5H8H8", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0005452 solute:inorganic anion antiporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane", "go_biological_process": "GO:0015698 inorganic anion transport", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q5SVS4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VTJ3-1", "uniprot_id": "KLD7A_HUMAN", "mass": 84479.0, "length": 777, "protein_name": "Kelch domain-containing protein 7A", "gene_name": "KLHDC7A", "organism": "Human", "refseq_name": "kelch domain-containing protein 7A", "refseq_ac": "NP_689588", "gene_names_uniprotkb": "KLHDC7A", "gene_names_refseq": "KLHDC7A", "protein_names_uniprotkb": "Kelch domain-containing protein 7A", "protein_names_refseq": "kelch domain-containing protein 7A", "tax_id": 9606, "disease": "", "pathway": " (hsa:127707)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "24275569;27607899;29557506;30379171;31154438;33141586;35051231", "class_list": "", "function": "Results suggest that LEKR1-CCNL1 and IGSF21-KLHDC7A gene polymorphisms influence the development of diabetic retinopathy (DR)., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 26, "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": "Q8N8W6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q5VTJ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q674X7-1", "uniprot_id": "KAZRN_HUMAN", "mass": 86351.0, "length": 775, "protein_name": "Kazrin", "gene_name": "KAZN", "organism": "Human", "refseq_name": "kazrin isoform C", "refseq_ac": "NP_001017999", "gene_names_uniprotkb": "KAZN; C1orf196; HRIHFB2003; KAZ; KIAA1026", "gene_names_refseq": "C1orf196; KAZN; KAZ", "protein_names_uniprotkb": "Kazrin", "protein_names_refseq": "kazrin isoform C; liprin-gamma", "tax_id": 9606, "disease": "", "pathway": " (hsa:23254); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11237011;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;16061697;16639001;17515931;17562024;17596512;18519826;18840647;18843291;19190773;19194479;19727525;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23186163;23301498;23629652;24715725;25576301;25926655;26154972;26390218;26992070;27600516;28832583;28834231;29242379;29557506;30059200;30315122;31492838;31844290;32157095;32387766;32488085;32502341;32938616;33141586;33968037;33981976;34171305;35051231;35710397;7543090;8824274;8999895;9395522;9565599;9853615", "class_list": "", "function": "Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Component of the cornified envelope of keratinocytes. May be involved in the interplay between adherens junctions and desmosomes. The function in the nucleus is not known., [UniProtKB, PubMed, UniProtKB, UniProtKB]; KAZN as a diagnostic marker in ovarian cancer: a comprehensive analysis based on microarray, mRNA-sequencing, and methylation data. Publication Status: Online-Only, [RefSeq, PubMed]; Kazrin colocalizes with periplakin and desmoplakin at desmosomes and with periplakin at the interdesmosomal plasma membrane, but its subcellular distribution is independent of periplakin [kazrin], [RefSeq, PubMed]; Kazrin is a dual regulator of intercellular adhesion and differentiation in keratinocytes and regulates these processes by Rho-dependent and -independent mechanisms, [RefSeq, PubMed]; These results suggested that Kazrin F might play an important role in regulating cellular apoptosis by interacting with ARC and Bax., [RefSeq, PubMed]; This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [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": 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": 22, "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": "B0QYQ0;B1AJZ1;B1AK78;Q5TGF1;Q674X4;Q674X6;Q6ZUD1;Q8IYN7;Q8N409;Q9UIL2;Q9UPX4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0016607 nuclear speck;GO:0001533 cornified envelope", "go_biological_process": "GO:0031424 keratinization", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q674X7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q68EN5-1", "uniprot_id": "MACA1_HUMAN", "mass": 53446.0, "length": 471, "protein_name": "Microtubule-associated tyrosine carboxypeptidase 1", "gene_name": "MATCAP1", "organism": "Human", "refseq_name": "microtubule-associated tyrosine carboxypeptidase 1 isoform 1", "refseq_ac": "NP_001035805", "gene_names_uniprotkb": "MATCAP1; KIAA0895L; MATCAP", "gene_names_refseq": "KIAA0895L; MATCAP1; TMCP1", "protein_names_uniprotkb": "Microtubule-associated tyrosine carboxypeptidase 1; 3.4.17.17; Microtubule-associated tyrosine carboxypeptidase", "protein_names_refseq": "KIAA0895 like; microtubule-associated tyrosine carboxypeptidase 1 isoform 1; microtubule-associated tyrosine carboxypeptidase; tubulin metallocarboxypeptidase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:653319)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;28228285;28904123;29242379;30779550;31844290;32357974;33392160;34185709;35051231;35482892;36010968;37938771", "class_list": "", "function": "Tyrosine carboxypeptidase that removes the C-terminal tyrosine residue of alpha-tubulin, thereby regulating microtubule dynamics and function (PubMed:35482892). Also able to remove the C-terminal phenylalanine residue of alpha-tubulin TUBA8 (PubMed:35482892). Recognizes adjacent tubulin dimers along the same protofilament (PubMed:35482892)., [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": 8, "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": "A2VCS8;Q8N3H9;Q8NAQ5;Q96IE5", "ec_number_list": "3.4.17.17", "go_molecular_function": "GO:0004181 metallocarboxypeptidase activity;GO:0106423 tubulin-tyrosine carboxypeptidase;GO:0008237 metallopeptidase activity;GO:0004180 carboxypeptidase activity", "go_cellular_component": "GO:0005874 microtubule", "go_biological_process": "GO:0006508 proteolysis;GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q68EN5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6NY19-2", "uniprot_id": "KANK3_HUMAN", "mass": 85893.0, "length": 821, "protein_name": "KN motif and ankyrin repeat domain-containing protein 3", "gene_name": "KANK3", "organism": "Human", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 3", "refseq_ac": "NP_940873", "gene_names_uniprotkb": "KANK3; ANKRD47", "gene_names_refseq": "ANKRD47; KANK3", "protein_names_uniprotkb": "KN motif and ankyrin repeat domain-containing protein 3; Ankyrin repeat domain-containing protein 47", "protein_names_refseq": "KN motif and ankyrin repeat domain-containing protein 3; ankyrin repeat domain 47; ankyrin repeat domain-containing protein 47; kidney ankyrin repeat-containing protein 3", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:256949)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "17996375;18507432;20166139;24275569;29047187;33309958;36463587;37938771", "class_list": "", "function": "Authors identified KANK3 as a new substrate for the oxygen sensor hypoxia-inducible factor 1-alpha inhibitor (HIF1AN), which hydroxylates HIF-1/2alpha and other ankyrin repeat domain-containing proteins at asparagine residues., [RefSeq, PubMed]; KANK family proteins in cancer. Review article, [RefSeq, PubMed]; KANK3 mediates the p38 MAPK pathway to regulate the proliferation and invasion of lung adenocarcinoma cells., [RefSeq, PubMed]; May be involved in the control of cytoskeleton formation by regulating actin polymerization., [UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 12, "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": "Q6NZI1;Q6ZQR3;Q8IUV2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton", "go_biological_process": "GO:0030837 negative regulation of actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6NY19-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PIU1-1", "uniprot_id": "KCNV1_HUMAN", "mass": 56304.0, "length": 500, "protein_name": "Potassium voltage-gated channel subfamily V member 1", "gene_name": "KCNV1", "organism": "Human", "refseq_name": "potassium voltage-gated channel subfamily V member 1", "refseq_ac": "NP_055194", "gene_names_uniprotkb": "KCNV1", "gene_names_refseq": "HNKA; KCNB3; KCNV1; KV2.3; KV8.1", "protein_names_uniprotkb": "Potassium voltage-gated channel subfamily V member 1; Neuronal potassium channel alpha subunit HNKA; Voltage-gated potassium channel subunit Kv8.1", "protein_names_refseq": "neuronal potassium channel alpha subunit HNKA; potassium channel Kv8.1; potassium channel, subfamily V, member 1; potassium channel, voltage gated modifier subfamily V, member 1; potassium voltage-gated channel subfamily V member 1; voltage-gated potassium channel subunit Kv8.1", "tax_id": 9606, "disease": "", "pathway": " (hsa:27012); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "12383276;20393197;21231794;23481700;28904123;29557506;29632711;29789417;31844290;33392160;35051231;8670833;9079713", "class_list": "", "function": "Potassium channel subunit that does not form functional channels by itself. Modulates KCNB1 and KCNB2 channel activity by shifting the threshold for inactivation to more negative values and by slowing the rate of inactivation. Can down-regulate the channel activity of KCNB1, KCNB2, KCNC4 and KCND1, possibly by trapping them in intracellular membranes., [UniProtKB, PubMed, PubMed]; Voltage-gated potassium (Kv) 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. This gene encodes a member of the potassium voltage-gated channel subfamily V. This protein is essentially present in the brain, and its role might be to inhibit the function of a particular class of outward rectifier potassium channel types. [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": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9UHJ4", "ec_number_list": "", "go_molecular_function": "GO:0015459 potassium channel regulator activity;GO:0008200 ion channel inhibitor activity;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;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": 1.4, "record_id": "Q6PIU1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UW63-1", "uniprot_id": "PLGT2_HUMAN", "mass": 58043.0, "length": 502, "protein_name": "Protein O-glucosyltransferase 2", "gene_name": "POGLUT2", "organism": "Human", "refseq_name": "protein O-glucosyltransferase 2 isoform 2", "refseq_ac": "NP_001305661", "gene_names_uniprotkb": "POGLUT2; EP58; KDELC1; PRO4357", "gene_names_refseq": "EP58; ERp58; KDEL1; KDELC1; POGLUT2", "protein_names_uniprotkb": "Protein O-glucosyltransferase 2; 2.4.1.-; 2.4.2.-; ER protein 58; ERp58; Endoplasmic reticulum resident protein 58; KDEL motif-containing protein 1; Protein O-xylosyltransferase POGLUT2", "protein_names_refseq": "ER protein 58; KDEL (Lys-Asp-Glu-Leu) containing 1; KDEL motif containing 1; KDEL motif-containing protein 1; endoplasmic reticulum resident protein 58; protein O-glucosyltransferase 2 isoform 2; protein O-xylosyltransferase POGLUT2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79070)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "10.1101/2023.09.13.557529;11167020;11237011;12975309;24190977;25892735;26992070;28228285;29242379;29557506;29741879;29769354;30127001;30249898;30429286;30484775;31844290;32157095;32350084;32938616;33592498;33717175;34185709;34411563;34846842;35051231;35251023;35289036;36010968;36241641;40596516", "class_list": "glycogene;glycosyltransferase", "function": "Our results suggest that GA733-2-Fc conjugated to ER-retention motif KDEL is a more efficient antigen to prevent tumor growth induced by colorectal carcinoma and minimize an allergic response., [RefSeq, PubMed]; POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1., [RefSeq, PubMed]; Protein glucosyltransferase that catalyzes the transfer of glucose from UDP-glucose to a serine residue within the consensus sequence peptide C-X-N-T-X-G-S-F-X-C (PubMed:30127001). Can also catalyze the transfer of xylose from UDP-xylose but less efficiently (PubMed:30127001). Specifically targets extracellular EGF repeats of proteins such as NOTCH1, NOTCH3, FBN1, FBN2 and LTBP1 (PubMed:30127001, PubMed:34411563). May regulate the transport of NOTCH1 and NOTCH3 to the plasma membrane and thereby the Notch signaling pathway (PubMed:30127001)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. This gene has multiple transcript variants which are predicted to encode distinct isoforms. [provided by RefSeq, Jan 2016]., [RefSeq]; This paper reports data on mouse Kdelc1, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 611, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q53HL3;Q9BVD2", "ec_number_list": "2.4.2.-;2.4.1.-;2.4.1.376;2.4.2.63", "go_molecular_function": "GO:0046527 glucosyltransferase activity;GO:0035252 UDP-xylosyltransferase activity;GO:0035251 UDP-glucosyltransferase activity;GO:0140561 EGF-domain serine glucosyltransferase activity;GO:0140562 EGF-domain serine xylosyltransferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005788 endoplasmic reticulum lumen;GO:0012505 endomembrane system", "go_biological_process": "GO:0180059 protein O-linked glycosylation via glucose", "synthesized_glycan_count": 6710, "hit_score": 4.1, "record_id": "Q6UW63-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z3Y7-1", "uniprot_id": "K1C28_HUMAN", "mass": 50567.0, "length": 464, "protein_name": "Keratin, type I cytoskeletal 28", "gene_name": "KRT28", "organism": "Human", "refseq_name": "keratin, type I cytoskeletal 28", "refseq_ac": "NP_853513", "gene_names_uniprotkb": "KRT28; KRT25D", "gene_names_refseq": "K25IRS4; KRT25D; KRT28", "protein_names_uniprotkb": "Keratin, type I cytoskeletal 28; CK-28; Cytokeratin-28; K25D; K28; Keratin-25D; Keratin-28; Type I inner root sheath-specific keratin-K25irs4", "protein_names_refseq": "CK-28; K25D; K28; cytokeratin-28; keratin 28, type I; keratin, type I cytoskeletal 28; keratin-25D; type I inner root sheath specific keratin 25 irs4; type I inner root sheath-specific keratin-K25irs4", "tax_id": 9606, "disease": "", "pathway": " (hsa:162605); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 54, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15373777;15617563;15797384;15803139;16061697;16382671;16639001;16874310;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;22121020;23481192;23629652;2414304;25208914;25926655;26390218;27862975;34171305;34509645;37217939;7543090;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "Essential for the proper assembly of types I and II keratin protein complexes and the formation of keratin intermediate filaments in the inner root sheath (irs)., [UniProtKB, UniProtKB]; This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZP84", "ec_number_list": "", "go_molecular_function": "GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0070062 extracellular exosome;GO:0045095 keratin filament", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0045109 intermediate filament organization;GO:0031069 hair follicle morphogenesis;GO:0002009 morphogenesis of an epithelium", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q7Z3Y7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NCM2-1", "uniprot_id": "KCNH5_HUMAN", "mass": 111877.0, "length": 988, "protein_name": "Voltage-gated delayed rectifier potassium channel KCNH5", "gene_name": "KCNH5", "organism": "Human", "refseq_name": "voltage-gated delayed rectifier potassium channel KCNH5 isoform 1", "refseq_ac": "NP_647479", "gene_names_uniprotkb": "KCNH5; EAG2", "gene_names_refseq": "DEE112; EAG2; H-EAG2; KCNH5; Kv10.2; hEAG2", "protein_names_uniprotkb": "Voltage-gated delayed rectifier potassium channel KCNH5; Ether-a-go-go potassium channel 2; Potassium voltage-gated channel subfamily H member 5; Voltage-gated potassium channel subunit Kv10.2; hEAG2", "protein_names_refseq": "ether-a-go-go 2; ether-a-go-go-related potassium channel 2; potassium channel, voltage gated eag related subfamily H, member 5; potassium voltage-gated channel, subfamily H (eag-related), member 5; voltage-gated delayed rectifier potassium channel KCNH5 isoform 1; voltage-gated delayed rectifier potassium channel KCNH5; voltage-gated potassium channel subunit Kv10.2", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 112 (Disease Ontology:DOID:0051084); developmental and epileptic encephalopathy (Disease Ontology:DOID:0112202); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:27133); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "11943152;12135768;18349282;18655026;19172261;20393197;21231794;23647072;24133262;32097463;32725632;33833419;33912179;34136434;35051231;35254053;35874597;36068614;36215666;36241641;36307226;36928654", "class_list": "", "function": "A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism. Publication Status: Online-Only, [RefSeq, PubMed]; Chloride intracellular channel 1 cooperates with potassium channel EAG2 to promote medulloblastoma growth., [RefSeq, PubMed]; Data suggest that the 'Per-Ant-Sim' (PAS) and cyclic nucleotide binding (cNBD) domains at the N- and C-termini form interacting oligomers that have roles in channel function, [RefSeq, PubMed]; Mechanism underlying delayed rectifying in human voltage-mediated activation Eag2 channel. Publication Status: Online-Only, [RefSeq, PubMed]; Methylation of KCNH5 was present in 80% of NSCLC tissues but only in 14% of noncancerous tissues., [RefSeq, PubMed]; Molecular identification and characterisation, [RefSeq, PubMed]; Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5., [RefSeq, PubMed]; Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel that mediates outward-rectifying potassium currents which, on depolarization, reaches a steady-state level and do not inactivate (PubMed:11943152, PubMed:12135768, PubMed:24133262, PubMed:36928654). The kinetic is characterized by a slow activation time course and a small voltage dependence of the activation time constants, therefore, starts to open at more negative voltages (PubMed:11943152, PubMed:12135768). The activation kinetics depend on the prepulse potential and external divalent cation concentration (PubMed:11943152, PubMed:24133262). The time course of activation is biphasic with a fast and a slowly activating current component (PubMed:11943152, PubMed:12135768, PubMed:36928654). With negative prepulses, the current activation is delayed and slowed down several fold, whereas more positive prepulses speed up activation, therefore the activation rate depends on holding potential (PubMed:11943152, PubMed:12135768, PubMed:36928654)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population., [RefSeq, PubMed]; This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 55, "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": "C9JP98", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005251 delayed rectifier potassium channel activity;GO:0005516 calmodulin binding;GO:0044325 transmembrane transporter binding;GO:0044877 protein-containing complex binding;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:0042391 regulation of membrane potential;GO:0010389 regulation of G2/M transition of mitotic cell cycle;GO:0006813 potassium ion transport;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8NCM2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NEP7-1", "uniprot_id": "KLDC9_HUMAN", "mass": 37754.0, "length": 349, "protein_name": "Kelch domain-containing protein 9", "gene_name": "KLHDC9", "organism": "Human", "refseq_name": "kelch domain-containing protein 9 isoform b", "refseq_ac": "NP_001007256", "gene_names_uniprotkb": "KLHDC9; KARCA1", "gene_names_refseq": "KARCA1; KLHDC9", "protein_names_uniprotkb": "Kelch domain-containing protein 9; Kelch/ankyrin repeat-containing cyclin A1-interacting protein", "protein_names_refseq": "kelch domain-containing protein 9 isoform b; kelch/ankyrin repeat-containing cyclin A1-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:126823)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "15159402;25892735;29393594;31844290", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5SY56;Q6NXT9;Q6PKN4;Q8N5E1;Q8NA16", "ec_number_list": "", "go_molecular_function": "GO:0030332 cyclin binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8NEP7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92806-1", "uniprot_id": "KCNJ9_HUMAN", "mass": 44020.0, "length": 393, "protein_name": "G protein-activated inward rectifier potassium channel 3", "gene_name": "KCNJ9", "organism": "Human", "refseq_name": "G protein-activated inward rectifier potassium channel 3", "refseq_ac": "NP_004974", "gene_names_uniprotkb": "KCNJ9; GIRK3", "gene_names_refseq": "GIRK3; KCNJ9; KIR3.3", "protein_names_uniprotkb": "G protein-activated inward rectifier potassium channel 3; GIRK-3; Inward rectifier K(+) channel Kir3.3; Potassium channel, inwardly rectifying subfamily J member 9", "protein_names_refseq": "G protein-activated inward rectifier potassium channel 3; G protein-coupled inward rectifier potassium channel; inward rectifier K(+) channel Kir3.3; inwardly rectifier K+ channel KIR3.3; potassium channel, inwardly rectifying subfamily J member 9; potassium voltage-gated channel subfamily J member 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:3765); (R-HSA-1296041); (R-HSA-997272)", "pathway_count": 3, "publication_count": 13, "publication_id_list": "10659995;10913335;17185339;20453851;20610389;20655490;21637918;29557506;31154438;32502341;32938616;35051231;36833293", "class_list": "", "function": "A decisive role for the neuronal K(+) channel in regulating NCAM-dependent neurite outgrowth and attribute a physiologically meaningful role to the functional interplay of Kir3.3, NCAM, and TrkB in ontogeny, [RefSeq, PubMed]; De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures. Publication Status: Online-Only, [RefSeq, PubMed]; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium, This receptor is controlled by G proteins. Unable to produce channel activity when expressed alone (PubMed:10659995). Forms a functional channel in association with KCNJ3/GIRK1 (By similarity)., [UniProtKB, PubMed, UniProtKB]; Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It associates with another G-protein-activated potassium channel to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008]., [RefSeq]; This study is the first to identify the expression of GIRK2-4 subunits in human esophageal smooth muscle 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": 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": "Q5JW75", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0015467 G-protein activated inward rectifier potassium channel activity", "go_cellular_component": "GO:1902937 inward rectifier potassium channel complex;GO:0005886 plasma membrane;GO:0042734 presynaptic membrane;GO:0098688 parallel fiber to Purkinje cell synapse", "go_biological_process": "GO:1990573 potassium ion import across plasma membrane;GO:0099505 regulation of presynaptic membrane potential", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q92806-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96G42-1", "uniprot_id": "KLD7B_HUMAN", "mass": 63314.0, "length": 594, "protein_name": "Kelch domain-containing protein 7B", "gene_name": "KLHDC7B", "organism": "Human", "refseq_name": "kelch domain-containing protein 7B", "refseq_ac": "NP_612442", "gene_names_uniprotkb": "KLHDC7B", "gene_names_refseq": "KLHDC7B", "protein_names_uniprotkb": "Kelch domain-containing protein 7B", "protein_names_refseq": "kelch domain-containing protein 7B", "tax_id": 9606, "disease": "", "pathway": " (hsa:113730)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;18477386;19664994;20372783;25576301;25645385;25892735;26154972;26992070;28832583;29242379;29493099;29557506;29769354;29786170;30379171;32938616;33760214;35051231;35580925;37888201", "class_list": "", "function": "HPV E7 affects the function of cervical cancer cells via the TAL1/lncEBIC/KLHDC7B axis., [RefSeq, PubMed]; Hs.137007 gene is a novel gene specifically expressed in the breast that has a role in epigenetic regulation of breast cancer [Hs.137007], [RefSeq, PubMed]; KLHDC7B as a novel diagnostic biomarker in urine exosomal mRNA promotes bladder urothelial carcinoma cell proliferation and migration, inhibits 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": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q96G42-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96KK3-1", "uniprot_id": "KCNS1_HUMAN", "mass": 58372.0, "length": 526, "protein_name": "Delayed-rectifier potassium channel regulatory subunit KCNS1", "gene_name": "KCNS1", "organism": "Human", "refseq_name": "delayed-rectifier potassium channel regulatory subunit KCNS1", "refseq_ac": "NP_001309728", "gene_names_uniprotkb": "KCNS1", "gene_names_refseq": "KCNS1; Kv9.1; hKv9.1", "protein_names_uniprotkb": "Delayed-rectifier potassium channel regulatory subunit KCNS1; Delayed-rectifier K(+) channel alpha subunit 1; Delayed-rectifier potassium channel subunit Kv9.1; Potassium voltage-gated channel modifier subfamily S member 1; hKv9.1", "protein_names_refseq": "delayed-rectifier K(+) channel alpha subunit 1; delayed-rectifier potassium channel regulatory subunit KCNS1; delayed-rectifier potassium channel subunit Kv9.1; potassium voltage-gated channel subfamily S member 1; potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1; voltage-gated potassium channel subunit Kv9.1", "tax_id": 9606, "disease": "intracranial hypertension (Disease Ontology:DOID:9428)", "pathway": " (hsa:3787); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "10484328;20393197;20724292;21231794;23314412;24373571;24392765;29557506;30379171;30429286;35051231;36581221", "class_list": "", "function": "For KCNS1 rs4499491, individuals homozygous for the rare A allele (CC+ CA versus AA) had a 3.0-fold increase in the odds of reporting preoperative breast pain., [RefSeq, PubMed]; Potassium channel regulatory subunit that modulate the delayed rectifier voltage-gated potassium channel activity of KCNB1 and KCNB2 by altering their kinetics, expression levels, and shifting the half-inactivation potential to more polarized values (PubMed:10484328). While it does not form functional channels on its own, it can form functional heterotetrameric channels with KCNB1 and KCNB2 (PubMed:10484328). Each regulatory subunit has unique regulatory properties that can lead to extensive inhibition, significant changes in kinetics, and/or substantial shifts in the voltage dependencies of the inactivation process (By similarity)., [UniProtKB, UniProtKB, PubMed]; Several haplotypes of population-specific tagSNPs correlated with pain intensity in black southern African population with HIV-associated sensory neuropathy., [RefSeq, PubMed]; There was moderate statistical evidence for interactions shoulder pain phenotypes between KCNS1 and depressive symptoms, pain catastrophizing, or kinesiophobia, [RefSeq, PubMed]; Thia study presented the KCNS1 allele rs734784 as one of the first prognostic indicators of chronic pain risk. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Erratum:[Brain. 2011 Jul;134(7):2186. Gershon, Edith [added]; Livneh, Jessica [added]], [RefSeq, PubMed]; Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. [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": 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": "A2RUL9;B7ZM31;O43652;Q6DJU6", "ec_number_list": "", "go_molecular_function": "GO:0015459 potassium channel regulator activity;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:1901379 regulation of potassium ion transmembrane transport;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": 1.5, "record_id": "Q96KK3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96M94-1", "uniprot_id": "KLH15_HUMAN", "mass": 69775.0, "length": 604, "protein_name": "Kelch-like protein 15", "gene_name": "KLHL15", "organism": "Human", "refseq_name": "kelch-like protein 15", "refseq_ac": "NP_085127", "gene_names_uniprotkb": "KLHL15; KIAA1677", "gene_names_refseq": "HEL-S-305; KLHL15; XLID103", "protein_names_uniprotkb": "Kelch-like protein 15", "protein_names_refseq": "epididymis secretory protein Li 305; epididymis secretory sperm binding protein; kelch-like 15; kelch-like protein 15", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability 103 (Disease Ontology:DOID:0112020)", "pathway": " (hsa:80311)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "11237011;14528312;23135275;23481700;24817631;25418920;25576301;25644381;25645385;25880248;26375851;26992070;27561354;27600516;27846572;27862975;28218747;28514659;28832583;28834231;28904123;29242379;29393594;29557506;29786170;30315122;30429286;30779550;31154438;31217245;31222486;31844290;31848261;32157095;32161166;32357974;32488085;32502341;32938616;32983136;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34171305;34185709;34320214;34561969;34932366;35051231;35219381;35318648;35580925;36010968;36215666;36241641;36284347;37217939;37938771", "class_list": "", "function": "Genetic vulnerabilities upon inhibition of DNA damage response., [RefSeq, PubMed]; KLHL15 (KIAA1677) binds Cul3, [RefSeq, PubMed]; KLHL15 can interact with the PP2A/B'beta heterotrimer, it only degrades B'beta, thus promoting exchange with other regulatory subunits., [RefSeq, PubMed]; Substrate-specific adapter for CUL3 E3 ubiquitin-protein ligase complex (PubMed:14528312, PubMed:27561354, PubMed:35219381). Acts as an adapter for CUL3 to target the serine/threonine-protein phosphatase 2A (PP2A) subunit PPP2R5B for ubiquitination and subsequent proteasomal degradation, thus promoting exchange with other regulatory subunits (PubMed:23135275). Acts as an adapter for CUL3 to target the DNA-end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation (PubMed:27561354, PubMed:35219381). Through the regulation of RBBP8/CtIP protein turnover, plays a key role in DNA damage response, favoring DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:27561354, PubMed:35219381)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the kelch-like family of proteins that share a common domain structure consisting of an N-terminal broad-complex, tramtrack, bric-a-brac/poxvirus and zinc finger domain and C-terminal kelch repeat motifs. The encoded protein may be involved in protein ubiquitination and cytoskeletal organization. [provided by RefSeq, Apr 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": 10, "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": "Q32MN3;Q8NDA3;Q96BM6;Q9C0I6", "ec_number_list": "", "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:2000042 negative regulation of double-strand break repair via homologous recombination;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0071630 nuclear protein quality control by the ubiquitin-proteasome system", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q96M94-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9C075-1", "uniprot_id": "K1C23_HUMAN", "mass": 48131.0, "length": 422, "protein_name": "Keratin, type I cytoskeletal 23", "gene_name": "KRT23", "organism": "Human", "refseq_name": "keratin, type I cytoskeletal 23 isoform 2", "refseq_ac": "NP_001269362", "gene_names_uniprotkb": "KRT23", "gene_names_refseq": "CK23; HAIK1; K23; KRT23", "protein_names_uniprotkb": "Keratin, type I cytoskeletal 23; CK-23; Cytokeratin-23; K23; Keratin-23", "protein_names_refseq": "CK-23; cytokeratin 23; histone deacetylase inducible keratin 23; hyperacetylation-inducible type I keratin; keratin 23 (histone deacetylase inducible); keratin 23, type I; keratin, type I cytoskeletal 23 isoform 2; keratin, type I cytoskeletal 23; type I intermediate filament cytokeratin", "tax_id": 9606, "disease": "", "pathway": " (hsa:25984); (R-HSA-6805567); (R-HSA-6809371); (R-HSA-9925563)", "pathway_count": 4, "publication_count": 63, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11135429;11237011;11350120;11380615;11590230;12902340;15033990;15081423;15337775;15373777;15797384;15803139;16061697;16382671;16639001;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;2414304;25208914;25926655;26390218;27397612;29393594;29557506;29789417;30697791;31216713;32938616;33204716;33981976;35580925;36241641;38665916;39160525;7543090;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "AUthors investigated KRT23 mRNA levels in datasets from liver biopsies of chronic hepatitis C (CHC) patients and in primary human hepatocytes experimentally infected with HCV, in addition to hepatoma cells. In each of these specimens, we observed an HCV-dependent increase of mRNA levels. Importantly, the KRT23 protein levels in patient plasma decreased upon viral clearance. Publication Status: Online-Only, [RefSeq, PubMed]; Highly elevated in hepatocellular carcinoma, [RefSeq, PubMed]; Immune checkpoint gene signature assesses immune infiltration profiles in bladder cancer and identifies KRT23 as an immunotherapeutic target. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The Overexpression of Keratin 23 Promotes Migration of Ovarian Cancer via Epithelial-Mesenchymal Transition. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K084;B7Z7J2;I3L3Q6;Q9NUR6", "ec_number_list": "", "go_molecular_function": "GO:0030280 structural constituent of skin epidermis;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0045095 keratin filament;GO:0005882 intermediate filament", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0045109 intermediate filament organization;GO:0002009 morphogenesis of an epithelium", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9C075-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NVR0-1", "uniprot_id": "KLH11_HUMAN", "mass": 80148.0, "length": 708, "protein_name": "Kelch-like protein 11", "gene_name": "KLHL11", "organism": "Human", "refseq_name": "kelch-like protein 11 precursor", "refseq_ac": "NP_060613", "gene_names_uniprotkb": "KLHL11", "gene_names_refseq": "KLHL11", "protein_names_uniprotkb": "Kelch-like protein 11", "protein_names_refseq": "kelch-like protein 11 precursor; kelch-like protein 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:55175); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 190, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23186163;23201271;23333871;23349464;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24715725;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25576301;25645385;26154972;26344709;26460955;26632597;26811146;26906416;26929215;26992070;27030794;27222660;27565346;27846572;27920218;28115426;28218747;28228285;28832583;28834231;28904123;29153394;29242379;29393594;29437277;29493099;29557506;29632046;29786170;30315122;30429286;30610225;30779550;31020640;31154438;31217245;31530632;31844290;31848261;32005965;32157095;32265295;32284348;32357974;32387766;32488085;32502341;32744608;32897882;32938616;33141586;33298915;33392160;33444648;33537174;33592498;33912179;33936100;33968037;33981976;34185709;34211107;34509645;34932366;35251023;35580925;36010968;36284347;37217939;37938771;39894887;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Analysis of crystal structures of the BTB-BACK domains of KLHL11 both alone and in complex with Cul3 Erratum:[J Biol Chem. 2013 Sep 27;388(39):28304. Ayinampudi, Vikram [added]], [RefSeq, PubMed]; Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, leading most often to their proteasomal degradation., [UniProtKB]; Expanded Clinical Phenotype, Oncological Associations, and Immunopathologic Insights of Paraneoplastic Kelch-like Protein-11 Encephalitis. Erratum:[JAMA Neurol. 2020 Nov 1;77(11):1453. doi: 10.1001/jamaneurol.2020.3470. PMID: 32926076], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "", "ec_number_list": "", "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "Q9NVR0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2G3-1", "uniprot_id": "KLH14_HUMAN", "mass": 70714.0, "length": 628, "protein_name": "Kelch-like protein 14", "gene_name": "KLHL14", "organism": "Human", "refseq_name": "kelch-like protein 14", "refseq_ac": "NP_065856", "gene_names_uniprotkb": "KLHL14; KIAA1384", "gene_names_refseq": "KLHL14", "protein_names_uniprotkb": "Kelch-like protein 14; Printor; Protein interactor of Torsin-1A; Protein interactor of torsinA", "protein_names_refseq": "kelch-like 14; kelch-like protein 14; printor; protein interactor of Torsin-1A", "tax_id": 9606, "disease": "", "pathway": " (hsa:57565)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;19535332;23569223;23646949;28834231;29632711;31844290;32127472;32502341;34371177;35051231", "class_list": "", "function": "Novel tumor suppressor, KLHL14, is a subunit of a ubiquitin ligase that associates with the endoplasmic reticulum-associated protein degradation machinery. KLHL14 promotes ubiquitylation of B cell receptor (BCR) subunits and decreases the stability of immature BCR glycoforms in the endoplasmic reticulum, thereby reducing BCR levels. Conversely, loss of KLHL14 promotes BCR-dependent NF-kappaB activation and survival., [RefSeq, PubMed]; Printor is a torsinA-interacting protein implicated in dystonia pathogenesis, [RefSeq, PubMed]; The protein encoded by this gene is a member of the Kelch-like gene family, whose members contain a BTB/POZ domain, a BACK domain, and several Kelch domains. The encoded protein possesses six Kelch domains and localizes to the endoplasmic reticulum, where it interacts with torsin-1A. [provided by RefSeq, Sep 2015]., [RefSeq]; TorsinA ATP hydrolysis is induced upon association with LAP1 and LULL1, type II transmembrane proteins residing in the nuclear envelope and 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NNW1;B4DHA0;Q8WU41", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0043025 neuronal cell body;GO:0005789 endoplasmic reticulum membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9P2G3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2N7-1", "uniprot_id": "KLH13_HUMAN", "mass": 73868.0, "length": 655, "protein_name": "Kelch-like protein 13", "gene_name": "KLHL13", "organism": "Human", "refseq_name": "kelch-like protein 13 isoform b", "refseq_ac": "NP_001161771", "gene_names_uniprotkb": "KLHL13; BKLHD2; KIAA1309", "gene_names_refseq": "BKLHD2; KLHL13", "protein_names_uniprotkb": "Kelch-like protein 13; BTB and kelch domain-containing protein 2", "protein_names_refseq": "BTB and kelch domain containing 2; kelch-like 13; kelch-like protein 13 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:90293); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 182, "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;14528312;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17543862;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;19995937;21248752;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23033978;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24715725;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25645385;26344709;26375851;26460955;26632597;26811146;26906416;26929215;26992070;27030794;27222660;27565346;27920218;28063628;28115426;28218747;28228285;28514659;28832583;28860189;28904123;29153394;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30484775;30610225;30779550;31154438;31530632;31844290;31848261;31937595;32005965;32161166;32284348;32387766;32502341;32897882;32938616;33141586;33392160;33444648;33537174;33936100;33981976;34087483;34509645;35051231;36010968;36215666;36241641;37938771;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a BTB and kelch domain containing protein and belongs to the kelch repeat domain containing superfamily of proteins. The encoded protein functions as an adaptor protein that complexes with Cullin 3 and other proteins to form the Cullin 3-based E3 ubiquitin-protein ligase complex. This complex is necessary for proper chromosome segregation and completion of cytokinesis. Alternate splicing results in multiple transcript variants. [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": 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": "B3KV78;B3KWM7;B7Z3S9;B7Z5P2;B7Z802;D3DWH6;Q6P2E3;Q96QI7;Q9UDN9", "ec_number_list": "", "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005829 cytosol;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:0032465 regulation of cytokinesis", "synthesized_glycan_count": 0, "hit_score": 18.3, "record_id": "Q9P2N7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9ULD8-1", "uniprot_id": "KCNH3_HUMAN", "mass": 117129.0, "length": 1083, "protein_name": "Voltage-gated inwardly rectifying potassium channel KCNH3", "gene_name": "KCNH3", "organism": "Human", "refseq_name": "voltage-gated inwardly rectifying potassium channel KCNH3 isoform 2", "refseq_ac": "NP_001300959", "gene_names_uniprotkb": "KCNH3; KIAA1282", "gene_names_refseq": "BEC1; ELK2; KCNH3; Kv12.2", "protein_names_uniprotkb": "Voltage-gated inwardly rectifying potassium channel KCNH3; BEC1; Brain-specific eag-like channel 1; ELK channel 2; ELK2; Ether-a-go-go-like potassium channel 2; Potassium voltage-gated channel subfamily H member 3; Voltage-gated potassium channel subunit Kv12.2", "protein_names_refseq": "ELK channel 2; brain-specific eag-like channel 1; ether-a-go-go K(+) channel family member; ether-a-go-go-like potassium channel 2; potassium channel, voltage gated eag related subfamily H, member 3; potassium voltage-gated channel, subfamily H (eag-related), member 3; voltage-gated inwardly rectifying potassium channel KCNH3 isoform 2; voltage-gated inwardly rectifying potassium channel KCNH3; voltage-gated potassium channel subunit Kv12.2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23416); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "10455180;11237011;19923296;20393197;20638388;21231794;33981976;34087483;35051231;35254053;36215666", "class_list": "", "function": "BEC1 is negatively involved in cognitive functions with no abnormal behaviors such as spontaneous seizures or motor dysfunction., [RefSeq, PubMed]; Pore-forming (alpha) subunit of a voltage-gated inwardly rectifying potassium channel (PubMed:10455180). Charactherized by a fast rate of activation during depolarization followed by a rapid inactivation at much more depolarized value causing inward rectification due to a C-type inactivation mechanism (PubMed:10455180). Exhibits a rapid recovery from inactivation (PubMed:10455180)., [UniProtKB, PubMed]; Report on the binding of HIV-1 gp120 to the cytoplasmic C-terminus of the voltage-gated potassium channel BEC1, an interaction that can result in the repression of BEC's activity and the inhibition of HIV-1 particle-release, [RefSeq, PubMed]; The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q9UQ06", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005249 voltage-gated potassium channel activity;GO:0005242 inward rectifier potassium channel activity;GO:0005267 potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0042391 regulation of membrane potential;GO:0006813 potassium ion transport;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9ULD8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2K7-1", "uniprot_id": "KDM2A_HUMAN", "mass": 132793.0, "length": 1162, "protein_name": "Lysine-specific demethylase 2A", "gene_name": "KDM2A", "organism": "Human", "refseq_name": "lysine-specific demethylase 2A isoform b", "refseq_ac": "NP_001243334", "gene_names_uniprotkb": "KDM2A; CXXC8; FBL11; FBL7; FBXL11; JHDM1A; KIAA1004", "gene_names_refseq": "CXXC8; FBL11; FBL7; FBXL11; JHDM1A; KDM2A; LILINA", "protein_names_uniprotkb": "Lysine-specific demethylase 2A; 1.14.11.27; CXXC-type zinc finger protein 8; F-box and leucine-rich repeat protein 11; F-box protein FBL7; F-box protein Lilina; F-box/LRR-repeat protein 11; JmjC domain-containing histone demethylation protein 1A; [Histone-H3]-lysine-36 demethylase 1A", "protein_names_refseq": "CXXC-type zinc finger protein 8; F-box and leucine-rich repeat protein 11; F-box/LRR-repeat protein 11; [Histone-H3]-lysine-36 demethylase 1A; jmjC domain-containing histone demethylation protein 1A; jumonji C domain-containing histone demethylase 1A; lysine (K)-specific demethylase 2A; lysine-specific demethylase 2A isoform b; lysine-specific demethylase 2A", "tax_id": 9606, "disease": "melanoma (Disease Ontology:DOID:1909); lung non-small cell carcinoma (Disease Ontology:DOID:3908)", "pathway": " (hsa:22992); (R-HSA-3214842)", "pathway_count": 2, "publication_count": 123, "publication_id_list": "10945468;11214971;15620353;16362057;16603237;16603238;16732292;16732293;16738407;17081983;17310255;17320163;17351631;17525332;17713478;17924679;17947579;18220336;18452278;18669648;19001877;19367720;19415658;19502796;19651622;19690332;19727073;19843542;20023638;20068231;20084082;20129925;20208542;20379134;20417597;20457893;20622853;20622854;21406692;21532585;22615488;23186163;23481700;24715725;25418920;25576301;25645385;25823024;25880248;26037310;26154972;26375851;26728094;26811146;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28262558;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29563586;29632046;29632711;29786170;30033217;30315122;30379171;30410026;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33968037;34019948;34087483;34171305;34185709;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37217939;37311054;37751135;37845585;37938771;39273051", "class_list": "", "function": "Biological Functions of the KDM2 Family of Histone Demethylases., [RefSeq, PubMed]; Hepatitis B virus core protein stabilizes RANGAP1 to upregulate KDM2A and facilitate hepatocarcinogenesis., [RefSeq, PubMed]; Histone demethylase that specifically demethylates 'Lys-36' of histone H3, thereby playing a central role in histone code. Preferentially demethylates dimethylated H3 'Lys-36' residue while it has weak or no activity for mono- and tri-methylated H3 'Lys-36'. May also recognize and bind to some phosphorylated proteins and promote their ubiquitination and degradation. Required to maintain the heterochromatic state. Associates with centromeres and represses transcription of small non-coding RNAs that are encoded by the clusters of satellite repeats at the centromere. Required to sustain centromeric integrity and genomic stability, particularly during mitosis. Regulates circadian gene expression by repressing the transcriptional activator activity of CLOCK-BMAL1 heterodimer and RORA in a catalytically-independent manner (PubMed:26037310)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Inhibition of KDM2/7 Promotes Notochordal Differentiation of hiPSCs. Publication Status: Online-Only, [RefSeq, PubMed]; KDM2A represses the transcription of ribosomal RNA. KDM2A was localized in nucleoli and bound to the ribosomal RNA gene promoter., [RefSeq, PubMed]; Targeting KDM2A Enhances T-cell Infiltration in NSD1-Deficient Head and Neck Squamous Cell Carcinoma., [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 and, in addition to an F-box, contains at least six highly degenerated leucine-rich repeats. This family member plays a role in epigenetic silencing. It nucleates at CpG islands and specifically demethylates both mono- and di-methylated lysine-36 of histone H3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 18, "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": "D4QA03;E9PIL6;I3VM55;Q49A21;Q4G0M3;Q69YY8;Q9BVH5;Q9H7H5;Q9UK66", "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:0008270 zinc ion binding;GO:0003712 transcription coregulator activity;GO:0032452 histone demethylase activity;GO:0045322 unmethylated CpG binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005694 chromosome", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006303 double-strand break repair via nonhomologous end joining;GO:0042752 regulation of circadian rhythm", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "Q9Y2K7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y597-1", "uniprot_id": "KCTD3_HUMAN", "mass": 88984.0, "length": 815, "protein_name": "BTB/POZ domain-containing protein KCTD3", "gene_name": "KCTD3", "organism": "Human", "refseq_name": "BTB/POZ domain-containing protein KCTD3 isoform 2", "refseq_ac": "NP_001306223", "gene_names_uniprotkb": "KCTD3", "gene_names_refseq": "KCTD3; NY-REN-45", "protein_names_uniprotkb": "BTB/POZ domain-containing protein KCTD3; Renal carcinoma antigen NY-REN-45", "protein_names_refseq": "BTB/POZ domain-containing protein KCTD3 isoform 2; BTB/POZ domain-containing protein KCTD3; NY-REN-45 antigen; potassium channel tetramerisation domain containing 3; renal carcinoma antigen NY-REN-45", "tax_id": 9606, "disease": "", "pathway": " (hsa:51133); (R-HSA-9013148)", "pathway_count": 2, "publication_count": 254, "publication_id_list": "10232922;10464238;10490598;10508479;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;11007481;11058585;11085924;11149925;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11948177;12071859;12093360;12096337;12172552;12195014;12221096;12351724;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;15897194;16112081;16116428;16184169;16217026;16519628;16630611;16714282;16777452;16777849;16862148;16896804;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17599059;17702745;17765681;17804252;17932950;17976533;18045877;18056264;18218625;18363964;18426980;18653540;18669648;18786931;18835169;18838382;18929667;19605563;19651622;19934221;20068231;20679435;21148482;21454492;21542010;21565175;21613211;21685891;21865595;21989057;22004470;22096251;22298643;22461490;22544926;22571869;22608513;22970203;23186163;23200924;23255595;23382386;23406282;23434736;23481700;23572525;23718289;24086303;24259668;24335996;24352656;24584464;24933155;24996924;25024229;25211221;25576301;25645385;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26529257;26598554;26768311;26887924;26992070;27096001;27145964;27216196;27481945;27555588;27600516;27798618;28028151;28196833;28218747;28228285;28825699;28832583;28834231;28860633;28904123;29242379;29393594;29406573;29437277;29557506;29632046;29786170;30061681;30429286;30779550;30833945;30853411;31154438;31222486;31844290;31848261;31871319;31998317;32157095;32161166;32203420;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33537174;33592498;33691108;33912179;33968037;33981976;34087483;34171305;34185709;34405274;34509645;35051231;35318648;35580925;35705054;36010968;36215666;36241641;36284347;37938771;7479768;7512369;7673236;7721814;7753201;8021274;8537347;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8994827;9013646;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9659915;9670022;9829970;9843499;9846874", "class_list": "", "function": "Accessory subunit of potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 (HCN3) up-regulating its cell-surface expression and current density without affecting its voltage dependence and kinetics., [UniProtKB, UniProtKB]; KCTD3 is an accessory subunit of native HCN3 complexes, [RefSeq, PubMed]; This gene encodes a member of the potassium channel tetramerization-domain containing (KCTD) protein family. Members of this protein family regulate the biophysical characteristics of ion channels. In mouse, this protein interacts with hyperpolarization-activated cyclic nucleotide-gated channel complex 3 and enhances its cell surface expression and current density. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]; This largest series to date on KCTD3-mutated patients, we show that biallelic loss of function mutations in KCTD3 lead to a consistent phenotype of developmental epileptic encephalopathy and abnormal cerebellum on brain imaging., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0AV15;D3DTA6;Q49AG7;Q504Q9;Q6PJN6;Q8ND58;Q8NDJ0;Q8WX16", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0051260 protein homooligomerization", "synthesized_glycan_count": 0, "hit_score": 25.7, "record_id": "Q9Y597-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6Z4-1", "uniprot_id": "KIAS1_HUMAN", "mass": 19411.0, "length": 181, "protein_name": "Putative uncharacterized protein KIF25-AS1", "gene_name": "KIF25-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "KIF25-AS1; C6orf54; NCRNA00300", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein KIF25-AS1; KIF25 antisense RNA 1; KIF25 antisense gene protein 1; Protein HGC6.1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "10382971;23481700;32350084;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": 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": "Q2M1U8;Q5SZV0;Q5SZV1;Q9Y6Z3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q9Y6Z4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A4D1S0-1", "uniprot_id": "KLRG2_HUMAN", "mass": 42851.0, "length": 409, "protein_name": "Killer cell lectin-like receptor subfamily G member 2", "gene_name": "KLRG2", "organism": "Human", "refseq_name": "killer cell lectin-like receptor subfamily G member 2", "refseq_ac": "NP_940910", "gene_names_uniprotkb": "KLRG2; CLEC15B", "gene_names_refseq": "CLEC15B; KLRG2", "protein_names_uniprotkb": "Killer cell lectin-like receptor subfamily G member 2; C-type lectin domain family 15 member B", "protein_names_refseq": "C-type lectin domain family 15 member B; killer cell lectin-like receptor subfamily G member 2; killer cell lectin-like receptor subfamily G, member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:346689)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "18491316;19413330;19664994;20945404;29242379;29557506;31844290;35051231", "class_list": "", "function": "Genetic variants in the gene KLRG2 may affect Gleason score at diagnosis and hence the aggressiveness of prostate cancer. GeneRIF: 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q2NL79;Q6ZTV6", "ec_number_list": "", "go_molecular_function": "GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A4D1S0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "B7ZC32-1", "uniprot_id": "KIF28_HUMAN", "mass": 108254.0, "length": 967, "protein_name": "Kinesin-like protein KIF28P", "gene_name": "KIF28P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "KIF28P; KLP6", "gene_names_refseq": "", "protein_names_uniprotkb": "Kinesin-like protein KIF28P; Kinesin-like protein 6", "protein_names_refseq": "", "tax_id": 9606, "disease": "autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898)", "pathway": " (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 2, "publication_count": 114, "publication_id_list": "10052452;10318838;10445031;10559959;10761932;10921873;11172815;11493604;11689559;11703931;11726511;11739780;11748249;11782313;12047556;12070132;12368902;1406973;14504276;14654841;15029241;15037235;15272311;15326200;15616190;15632110;15813748;16030262;1607388;16262723;1631136;16571679;16633337;1680566;16912714;16926190;16940185;17113389;17253781;17346968;17360540;17429068;17451557;17538014;17760859;17927562;17956946;18182008;18287528;18342609;18524849;18809720;1898986;19015319;19109418;19116309;19151722;19164740;19338388;19369418;1957170;19631211;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21219331;2142332;21550981;21689688;21844168;22013193;22094269;22304919;23396477;2521221;2522352;25364732;25436559;25492864;29242379;29557506;29789417;29992770;3130248;3134048;33633747;35051231;7528108;7539720;7822426;7844144;7929562;8001155;8128252;8132710;8221884;8253837;8505331;8548803;8599929;8602245;8620540;9114004;9177194;9244307;9288971;9405360;9751720;9990005", "class_list": "", "function": "Microtubule-dependent motor protein required for mitochondrion morphology and transport of mitochondria in neuronal cells., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 9015, "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:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity;GO:0003777 microtubule motor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0031966 mitochondrial membrane;GO:0005871 kinesin complex", "go_biological_process": "GO:0007005 mitochondrion organization;GO:0072384 organelle transport along microtubule;GO:0047496 vesicle transport along microtubule", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "B7ZC32-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14782-1", "uniprot_id": "KIF3C_HUMAN", "mass": 89454.0, "length": 793, "protein_name": "Kinesin-like protein KIF3C", "gene_name": "KIF3C", "organism": "Human", "refseq_name": "kinesin-like protein KIF3C", "refseq_ac": "NP_002245", "gene_names_uniprotkb": "KIF3C", "gene_names_refseq": "KIF3C", "protein_names_uniprotkb": "Kinesin-like protein KIF3C", "protein_names_refseq": "KIF3C variant protein; kinesin-like protein KIF3C", "tax_id": 9606, "disease": "chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515)", "pathway": " (hsa:3797); (R-HSA-2132295); (R-HSA-5620924); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 5, "publication_count": 237, "publication_id_list": "10036229;10052452;10064083;10069812;10072072;10318838;10445031;10480952;10540230;10559959;10593899;10631941;10631952;10639150;10748235;10761932;10809954;10921873;11172815;11237011;11285270;11493604;11529500;11684289;11689559;11703931;11726511;11739780;11748249;11782313;11790530;11813165;11853874;12047556;12070132;12078484;12198549;12368902;12742663;12748383;12795688;1406973;14504276;14654841;14731593;15029241;15037235;15231740;15269286;15272311;15326200;15489852;15523559;15616190;15632110;15749704;15813748;15911768;15955805;16030262;16049494;1607388;16181339;16242130;16262723;1631136;16435301;16492809;16571679;16618111;16633337;16775004;16782012;1680566;16824007;16912714;16926190;16940185;17113389;17142755;17253781;17283181;17312020;17314406;17346968;17360540;17429068;17451557;17538014;17574030;17760859;17924679;17927562;17956946;18046453;18180368;18182008;18287528;18292509;18304522;18342609;18364699;18369462;18452278;18524849;18809720;18852297;1898986;19015319;19109418;19112494;19116309;19147001;19151722;19164740;19253336;19338388;19369418;19384852;19450523;1956401;19564404;1957170;19631211;19720863;19758564;19805633;20005805;20136777;20357002;20427317;20435895;20462495;20526327;20526328;20530210;20534429;20637885;20889716;21116285;2121367;21219331;2142332;21427764;21441454;21550981;21689688;21844168;2190094;21936775;22013193;22094269;22118932;22304919;22922713;22992454;23396477;2391366;23945166;23990561;24140113;24296415;24596149;24616010;25205765;2521221;2522352;25349261;25364732;25436559;25443296;25492864;26138355;28411811;3130248;3134048;32020481;33150178;34193018;37217939;37752101;37938771;7481823;7528108;7539720;7592972;7650016;7667286;7822426;7844144;7929562;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8221884;8253837;8313912;8397411;8415765;8505331;8516294;8522608;8548803;8599929;8602245;8620540;8642258;8687433;8849454;8909537;8939989;8947036;9075930;9114004;9114011;9177194;9202021;9244307;9288971;9311912;9312039;9405360;9446808;9480755;9497313;9539769;9545226;9585416;9585417;9606180;9751720;9852153;9990005", "class_list": "", "function": "Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis. Publication Status: Online-Only, [RefSeq, PubMed]; KIF3C Promotes Proliferation, Migration, and Invasion of Glioma Cells by Activating the PI3K/AKT Pathway and Inducing EMT. Publication Status: Online-Only, [RefSeq, PubMed]; KIF3C is associated with favorable prognosis in glioma patients and may be regulated by PI3K/AKT/mTOR pathway., [RefSeq, PubMed]; Kinesin family member 3C (KIF3C) is a novel non-small cell lung cancer (NSCLC) oncogene whose expression is modulated by microRNA-150-5p (miR-150-5p) and microRNA-186-3p (miR-186-3p)., [RefSeq, PubMed]; Microtubule-based anterograde translocator for membranous organelles., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O43544;Q4ZG18;Q53SX5;Q562F7", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity;GO:0003777 microtubule motor activity;GO:0003774 cytoskeletal motor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule;GO:0005929 cilium;GO:0005871 kinesin complex", "go_biological_process": "GO:0007018 microtubule-based movement", "synthesized_glycan_count": 0, "hit_score": 24.0, "record_id": "O14782-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95239-1", "uniprot_id": "KIF4A_HUMAN", "mass": 139881.0, "length": 1232, "protein_name": "Chromosome-associated kinesin KIF4A", "gene_name": "KIF4A", "organism": "Human", "refseq_name": "chromosome-associated kinesin KIF4A", "refseq_ac": "NP_036442", "gene_names_uniprotkb": "KIF4A; KIF4", "gene_names_refseq": "KIF4A; KIF4G1; KIF4; MRX100; TMDI; XLID100", "protein_names_uniprotkb": "Chromosome-associated kinesin KIF4A; Chromokinesin-A", "protein_names_refseq": "chromokinesin KIF4A; chromokinesin-A; chromosome-associated kinesin KIF4A", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability 100 (Disease Ontology:DOID:0112040); epilepsy (Disease Ontology:DOID:1826); taurodontism, microdontia, and dens invaginatus (MONDO:MONDO:0010740)", "pathway": " (hsa:24137); (R-HSA-2132295); (R-HSA-437239); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 5, "publication_count": 283, "publication_id_list": "10036229;10052452;10064083;10072072;10318838;10445031;10480952;10540230;10559959;10593899;10608864;10631941;10631952;10639150;10747093;10748235;10761932;10804209;10809954;10818153;10921873;10978527;11172815;11493604;11529500;11684289;11689559;11703931;11726511;11736643;11739780;11748249;11782313;11790530;11813165;11853874;12047556;12070132;12078484;12082080;12198549;12368902;12742663;12748383;12942088;1406973;14504276;14654841;14731593;15029241;15037235;15272311;15297875;15326200;15616190;15625105;15632110;15749704;15813748;15911768;16030262;1607388;16181339;16242130;16262723;1631136;16330023;16565220;16571679;16618111;16633337;1680566;16824007;16912714;16926190;16940185;16964243;17081983;17113389;17142755;17253781;17283181;17346968;17360540;17429068;17451557;17538014;17760859;17927562;17956946;18046453;18182008;18212344;18287528;18292509;18318008;18342609;18452278;18478542;18524849;18669648;18809720;1898986;19007248;19015319;19109418;19116309;19151722;19164740;19278660;19338388;19369418;19413330;1956401;19564404;1957170;19631211;19651622;19664994;19691289;19758564;20005805;20058876;20068231;20136777;20357002;20427317;20462495;20534429;20637885;21116285;2121367;21219331;2142332;21441454;21550981;21689688;21844168;21872626;2190094;22013193;22094269;22304919;23186163;23301498;23396477;23481700;2391366;23940115;24366607;2448316;24714562;24812067;2521221;2522352;25364732;25436559;25492864;25512391;25576301;26728094;26992070;27543614;27600516;27846572;27920218;28063628;28510447;28832583;28834231;28904123;28992084;29242379;29314611;29393594;29508533;29557506;29632046;29771379;29848660;30484775;30524438;30576375;30779550;30833945;31092671;3130248;3134048;31530632;31616463;31844290;31848261;32157095;32161166;32195664;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34932366;35051231;35132862;35561310;36010968;36217900;36241641;36260268;36468837;36849972;37039264;37217939;40307207;40914422;7481823;7493978;7528108;7539720;7592972;7650016;7667286;7822426;7844144;7929562;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8221884;8253837;8313912;8397411;8415765;8505331;8548803;8599929;8602245;8620540;8642258;8687433;8849454;8909537;8939989;8947036;9075930;9114004;9168136;9177194;9202021;9244307;9288971;9311912;9312039;9405360;9497313;9539769;9545226;9606180;9651214;9721721;9751720;9990005", "class_list": "", "function": "Bioinformatic and Experimental Analyses Reveal That KIF4A Is a Biomarker of Therapeutic Sensitivity and Predicts Prognosis in Cervical Cancer Patients., [RefSeq, PubMed]; DEPDC1 and KIF4A synergistically inhibit the malignant biological behavior of osteosarcoma cells through Hippo signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Iron-sulfur (Fe-S) cluster binding motor protein that has a role in chromosome segregation during mitosis (PubMed:29848660). Translocates PRC1 to the plus ends of interdigitating spindle microtubules during the metaphase to anaphase transition, an essential step for the formation of an organized central spindle midzone and midbody and for successful cytokinesis (PubMed:15297875, PubMed:15625105). May play a role in mitotic chromosomal positioning and bipolar spindle stabilization (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; KIF4A knockdown inhibits tumor progression and promotes chemo-sensitivity via induction of P21 in lung cancer cells., [RefSeq, PubMed]; KIF4A promotes genomic stability and progression of endometrial cancer through regulation of TPX2 protein degradation., [RefSeq, PubMed]; Knockdown of kinesin family member 4A inhibits cell proliferation, migration, and invasion while promoting apoptosis of urothelial bladder carcinoma cells., [RefSeq, PubMed]; This gene encodes a member of the kinesin 4 subfamily of kinesin related proteins. The encoded protein is an ATP dependent microtubule-based motor protein that is involved in the intracellular transport of membranous organelles. This protein also associates with condensed chromosome arms and may be involved in maintaining chromosome integrity during mitosis. This protein may also be involved in the organization of the central spindle prior to cytokinesis. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 43, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 24, "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": "B2R7V5;D3DVU4;Q86TN3;Q86XX7;Q9NNY6;Q9NY24;Q9UMW3", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0046872 metal ion binding;GO:0003777 microtubule motor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0016363 nuclear matrix;GO:0005875 microtubule associated complex", "go_biological_process": "GO:0000281 mitotic cytokinesis;GO:0008089 anterograde axonal transport;GO:0006996 organelle organization;GO:0007052 mitotic spindle organization;GO:0051256 mitotic spindle midzone assembly", "synthesized_glycan_count": 0, "hit_score": 28.6, "record_id": "O95239-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95461-1", "uniprot_id": "LARG1_HUMAN", "mass": 88066.0, "length": 756, "protein_name": "Xylosyl- and glucuronyltransferase LARGE1", "gene_name": "LARGE1", "organism": "Human", "refseq_name": "xylosyl- and glucuronyltransferase LARGE1 isoform 1", "refseq_ac": "NP_004728", "gene_names_uniprotkb": "LARGE1; KIAA0609; LARGE", "gene_names_refseq": "LARGE1; LARGE; MDC1D; MDDGA6; MDDGB6", "protein_names_uniprotkb": "Xylosyl- and glucuronyltransferase LARGE1; 2.4.-.-; Acetylglucosaminyltransferase-like 1A; Glycosyltransferase-like protein; LARGE xylosyl- and glucuronyltransferase 1", "protein_names_refseq": "acetylglucosaminyltransferase-like 1A; acetylglucosaminyltransferase-like protein; glycosyltransferase-like protein LARGE1; xylosyl- and glucuronyltransferase LARGE1 isoform 1; xylosyl- and glucuronyltransferase LARGE1", "tax_id": 9606, "disease": "muscular dystrophy-dystroglycanopathy type B1 (Disease Ontology:DOID:0050588); muscular dystrophy-dystroglycanopathy type B6 (Disease Ontology:DOID:0110637); congenital muscular dystrophy-dystroglycanopathy type A6 (Disease Ontology:DOID:0111242); facioscapulohumeral muscular dystrophy (Disease Ontology:DOID:11727)", "pathway": " (hsa:9215); (R-HSA-5083627); (R-HSA-9939291)", "pathway_count": 3, "publication_count": 63, "publication_id_list": "10.1101/2023.09.13.557529;10545611;11237011;11592034;11709191;11741828;12966029;14627679;15121789;15661757;15752776;15958417;17030669;17034757;17044012;18195152;18477386;19067344;19299310;19587235;21987822;22223806;22424782;22522420;23125099;23217329;23359570;23390185;24190977;24709677;25138275;25279697;25279699;25502872;26687144;26923585;27130732;27493216;27636103;27733679;27909055;27920218;28649982;29314611;29317506;29477842;29557506;31054580;31844290;31949166;32149355;32350084;32488085;32502341;32975514;33588034;33592498;34015330;34357683;34452470;35051231;35154160;9892679", "class_list": "glycogene;glycosyltransferase", "function": "Bifunctional glycosyltransferase with both alpha-1,3-xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the maturation of alpha-dystroglycan (DAG1) by glycosylation leading to DAG1 binding to laminin G-like domain-containing extracellular proteins with high affinity (PubMed:15661757, PubMed:15752776, PubMed:21987822, PubMed:22223806, PubMed:23125099, PubMed:25279697, PubMed:25279699). Elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure initiated by B4GAT1 by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide (PubMed:22223806, PubMed:23125099, PubMed:25138275, PubMed:25279697, PubMed:25279699, PubMed:32975514). Requires the phosphorylation of core M3 (O-mannosyl trisaccharide) by POMK to elongate the glucuronyl-beta-1,4-xylose-beta disaccharide primer (PubMed:21987822). Plays a key role in skeletal muscle function and regeneration (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Clinical significance of LARGE1 in progression of liver cancer and the underlying mechanism., [RefSeq, PubMed]; Findings demonstrate that a lack of matriglycan on alpha-dystroglycan is a common feature in rhabdomyosarcoma due to the downregulation of LARGE1, and that ectopic expression of LARGE1 can restore matriglycan modifications and the ability of alpha-dystroglycan to function as an extracellular matrix receptor Publication Status: Online-Only, [RefSeq, PubMed]; Large1 gene is a target for human papillomavirus integrations and chromosome rearrangements in oropharyngeal squamous cell carcinoma., [RefSeq, PubMed]; The Origins and Future of Sentinel: An Early-Warning System for Pandemic Preemption and Response. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018]., [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": 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": 5, "reported_glycation": 0, "reported_snv": 961, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B0QXZ7;O60348;Q17R80;Q9UGD1;Q9UGE7;Q9UGG3;Q9UGZ8;Q9UH22", "ec_number_list": "2.4.1.-;2.4.2.-;2.4.-.-", "go_molecular_function": "GO:0042285 xylosyltransferase activity;GO:0030145 manganese ion binding;GO:0008375 acetylglucosaminyltransferase activity;GO:0016757 glycosyltransferase activity;GO:0015020 glucuronosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0031594 neuromuscular junction;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006044 N-acetylglucosamine metabolic process;GO:0043403 skeletal muscle tissue regeneration;GO:0060538 skeletal muscle organ development;GO:1904395 positive regulation of skeletal muscle acetylcholine-gated channel clustering;GO:0006688 glycosphingolipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "O95461-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q93100-1", "uniprot_id": "KPBB_HUMAN", "mass": 124884.0, "length": 1093, "protein_name": "Phosphorylase b kinase regulatory subunit beta", "gene_name": "PHKB", "organism": "Human", "refseq_name": "phosphorylase b kinase regulatory subunit beta isoform a", "refseq_ac": "NP_000284", "gene_names_uniprotkb": "PHKB", "gene_names_refseq": "PHKB", "protein_names_uniprotkb": "Phosphorylase b kinase regulatory subunit beta; Phosphorylase kinase subunit beta", "protein_names_refseq": "phosphorylase b kinase regulatory subunit beta isoform a; phosphorylase b kinase regulatory subunit beta; phosphorylase kinase beta-subunit; phosphorylase kinase subunit beta; phosphorylase kinase, beta", "tax_id": 9606, "disease": "glycogen storage disease IXb (Disease Ontology:DOID:0111041)", "pathway": " (hsa:5257); (R-HSA-70221)", "pathway_count": 2, "publication_count": 89, "publication_id_list": "10.1101/2023.09.13.557529;10487978;10949035;11237011;12604216;12825073;12930917;13115432;15118078;16959974;16964243;18323634;18669648;18691976;19651622;20058876;20068231;20166139;21767668;23186163;23481700;24275569;25051373;25418920;25645385;25880248;25892735;26154972;2667896;26992070;28218747;28228285;28275865;28832583;28834231;28904123;29242379;29393594;29437277;29557506;2961257;29632046;29632711;29769354;29786170;30410026;30429286;3049072;30524438;31154438;31217245;31530632;31754332;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33968037;34509645;35051231;35318648;35580925;36010968;36284347;37848412;37938771;4829444;5264799;5461220;7847371;7902568;8420990;8681948;8755644;8896567;9326319;9402963;9504428;9691087", "class_list": "", "function": "Analysis showed that the glycogen phosphorylase kinase beta-subunit (PHKB) interacted with the C-terminal region of KIAA1199 protein., [RefSeq, PubMed]; PHKB acts as a novel prognostic indicator for HCC, which exerts its suppression function via inactivating AKT and STAT3. Publication Status: Online-Only, [RefSeq, PubMed]; PHKb affects colorectal cancer cell growth and represents a novel prognostic biomarker., [RefSeq, PubMed]; Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]., [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": 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": 2, "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": 29, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8N4T5", "ec_number_list": "", "go_molecular_function": "GO:0005516 calmodulin binding", "go_cellular_component": "GO:0005964 phosphorylase kinase complex;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006091 generation of precursor metabolites and energy;GO:0005977 glycogen metabolic process;GO:0005980 glycogen catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q93100-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQ35-1", "uniprot_id": "NRIP3_HUMAN", "mass": 26975.0, "length": 241, "protein_name": "Nuclear receptor-interacting protein 3", "gene_name": "NRIP3", "organism": "Human", "refseq_name": "nuclear receptor-interacting protein 3", "refseq_ac": "NP_065696", "gene_names_uniprotkb": "NRIP3; C11orf14", "gene_names_refseq": "C11orf14; NRIP3; NY-SAR-105", "protein_names_uniprotkb": "Nuclear receptor-interacting protein 3; Sarcoma antigen NY-SAR-105", "protein_names_refseq": "nuclear receptor-interacting protein 3; sarcoma antigen NY-SAR-105", "tax_id": 9606, "disease": "", "pathway": " (hsa:56675)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;11528127;12601173;19454493;24715725;26992070;27600516;28834231;29493099;32387766;32938616", "class_list": "", "function": "NRIP3 is a novel translocation partner of MLL 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": 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": "Q86WD9", "ec_number_list": "", "go_molecular_function": "GO:0004190 aspartic-type endopeptidase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9NQ35-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07437-1", "uniprot_id": "TBB5_HUMAN", "mass": 49671.0, "length": 444, "protein_name": "Tubulin beta chain", "gene_name": "TUBB", "organism": "Human", "refseq_name": "tubulin beta chain isoform a", "refseq_ac": "NP_001280141", "gene_names_uniprotkb": "TUBB; SW-cl.56; TUBB5", "gene_names_refseq": "CDCBM6; CSCSC1; M40; OK/SW-cl.56; TUBB1; TUBB5; TUBB", "protein_names_uniprotkb": "Tubulin beta chain; Tubulin beta-5 chain", "protein_names_refseq": "beta Ib tubulin; epididymis secretory sperm binding protein; tubulin beta chain isoform a; tubulin beta-1 chain; tubulin beta-5 chain; tubulin, beta polypeptide", "tax_id": 9606, "disease": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (Disease Ontology:DOID:0050997); ptosis (Disease Ontology:DOID:0060260); complex cortical dysplasia with other brain malformations 7 (Disease Ontology:DOID:0090132); complex cortical dysplasia with other brain malformations 6 (Disease Ontology:DOID:0090136); tubulinopathy (Disease Ontology:DOID:0112227); multiple benign circumferential skin creases on limbs (Disease Ontology:DOID:0112241); congenital symmetric circumferential skin creases 1 (Disease Ontology:DOID:0112242); microcephaly (Disease Ontology:DOID:10907); facial paralysis (Disease Ontology:DOID:13934)", "pathway": " (hsa:203068); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-6798695); (R-HSA-8854518); (R-HSA-9679191)", "pathway_count": 10, "publication_count": 223, "publication_id_list": "10087012;11076968;11237011;11504633;11956313;12207013;12221128;12364337;12852856;13678582;14580337;15498487;15592455;15705883;16115318;16357211;16371510;16462731;16522641;16890155;17574030;17646400;17662961;17719545;18037885;18369606;18378770;18477460;18512783;18521620;18566290;18615013;18694559;18801063;19004860;19007248;19081074;19524510;19608861;19664994;19691289;19940019;20068231;20191564;20223979;20230748;20308558;20399632;20558667;20643351;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;22094468;22179047;22365832;22401777;22433857;22552008;22641346;22653444;22814904;22869377;23141531;23141541;23186163;23246003;23253480;23325789;23348840;23400999;23481700;23519414;23530209;23641311;23650620;23719902;23747070;23769972;23783831;23789104;23921553;24029068;24053599;24089205;24231678;24272870;24469809;24584101;24714562;24715725;24813628;24982133;25047611;25313408;25418920;25502872;25532896;25645385;25801024;25802875;25810538;25880248;25892735;26002965;26154972;26165356;26375851;26637975;26728094;26768311;26824387;26853435;26875866;26929215;26992070;27452731;27600516;27846572;27862975;28218747;28228285;28425720;28514659;28576883;28832583;28834231;28871256;28904123;29242379;29317506;29393594;29493099;29508533;29557506;29632711;29786170;29789417;29945920;30201761;30315122;30397120;30410026;30573663;30779550;30833945;31020640;31048504;31217245;31222486;31373491;31530632;31727855;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32747782;32983136;33043033;33091337;33123756;33141586;33214551;33402344;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34185709;34211110;34357683;34433824;34509645;34561969;34725712;34932366;35008409;35051231;35083852;35138101;35154160;35251023;35318648;35580925;36010968;36215666;36241641;36284347;36581221;36928665;37217939;37340703;37938771;38253038;38665916;40596516;40914422;6688039;6865944;7556643;7769006;7790358;8692836;8838651", "class_list": "", "function": "Dynamics of TUBB protein with five majorly occurring natural variants: a risk of cortical dysplasia. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review. Review article, [RefSeq, PubMed]; This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014]., [RefSeq]; Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "P05218;Q8WUC1;Q9CY33", "ec_number_list": "", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005200 structural constituent of cytoskeleton;GO:0005525 GTP binding;GO:0019904 protein domain specific binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0097229 sperm end piece;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005641 nuclear envelope lumen;GO:0005737 cytoplasm", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0051301 cell division;GO:0000226 microtubule cytoskeleton organization;GO:0030705 cytoskeleton-dependent intracellular transport;GO:0071895 odontoblast differentiation", "synthesized_glycan_count": 0, "hit_score": 23.6, "record_id": "P07437-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H6L2-1", "uniprot_id": "TM231_HUMAN", "mass": 36059.0, "length": 316, "protein_name": "Transmembrane protein 231", "gene_name": "TMEM231", "organism": "Human", "refseq_name": "transmembrane protein 231 isoform 1", "refseq_ac": "NP_001070884", "gene_names_uniprotkb": "TMEM231; PRO1886", "gene_names_refseq": "ALYE870; JBTS20; MKS11; PRO1886; TMEM231", "protein_names_uniprotkb": "Transmembrane protein 231", "protein_names_refseq": "transmembrane protein 231 isoform 1", "tax_id": 9606, "disease": "Meckel syndrome (Disease Ontology:DOID:0050778); Meckel syndrome 11 (Disease Ontology:DOID:0061296); Joubert syndrome 20 (Disease Ontology:DOID:0110989); orofaciodigital syndrome (Disease Ontology:DOID:4501)", "pathway": " (hsa:79583)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;23012439;23349226;24190977;25645385;25892735;26477546;26595381;27846572;27920218;28228285;28904123;29242379;29741879;29769354;30315122;30568303;30779550;31154438;31530632;31663672;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32938616;33141586;33392160;33592498;33691108;33912179;33968037;35251023;35289036;35318648;36010968;37074911;39894887;40596516", "class_list": "", "function": "Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome., [RefSeq, PubMed]; Mutations in TMEM231 cause JBTS, reinforcing the relationship between this condition and the disruption of the barrier at the ciliary transition zone., [RefSeq, PubMed]; TMEM231 represents a novel MKS locus. The very recent identification of TMEM231 mutations in Joubert syndrome supports the growing appreciation of the overlap in the molecular pathogenesis between these two ciliopathies., [RefSeq, PubMed]; This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]., [RefSeq]; Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, 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": 3, "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": 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": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 4, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A0JLU1;A6NDZ6;B3KU85;G5E9E3;Q6P450;Q6UWW5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0036038 MKS complex;GO:0060170 ciliary membrane;GO:0035869 ciliary transition zone", "go_biological_process": "GO:0032880 regulation of protein localization;GO:0060271 cilium assembly;GO:0007224 smoothened signaling pathway;GO:1904491 protein localization to ciliary transition zone;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9H6L2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WWA0-1", "uniprot_id": "ITLN1_HUMAN", "mass": 34962.0, "length": 313, "protein_name": "Intelectin-1", "gene_name": "ITLN1", "organism": "Human", "refseq_name": "intelectin-1 precursor", "refseq_ac": "NP_060095", "gene_names_uniprotkb": "ITLN1; INTL; ITLN; LFR; PRO1270", "gene_names_refseq": "HL-1; HL1; INTL; ITLN1; ITLN; LFR; hIntL; omentin", "protein_names_uniprotkb": "Intelectin-1; Endothelial lectin HL-1; Galactofuranose-binding lectin; ITLN-1; Intestinal lactoferrin receptor; Omentin", "protein_names_refseq": "ITLN-1; endothelial lectin HL-1; galactofuranose-binding lectin; intelectin 1 (galactofuranose binding); intelectin-1 precursor; intestinal lactoferrin receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:55600); (R-HSA-6803157)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "11120840;11181563;11313366;11389039;11747454;11971875;12493837;12975309;13816;14506276;14702039;14720597;14739326;1522221;15229136;15489334;15778384;15826377;15956276;16054449;16215847;16336202;16354652;16354654;16374474;16531507;16710414;16799473;16931762;16940129;17363965;17502600;17567961;17621593;17964057;18021746;18160480;18185531;18673279;19095652;19179970;19254208;19818633;20103720;20180804;20382864;20395631;20510021;20845358;21787330;22262861;22327069;22455996;22701042;23302724;23426625;23921499;24219363;24256734;25075772;25461571;25596890;26148048;27089320;29557506;29789417;31930911;32157095;3286634;33647262;33725883;33823642;34145348;34511173;35580925;38529304;38609116;38724552;39151819;39333229;9523110;9665269;9756476", "class_list": "glycogene", "function": "A common polymorphism in the Intelectin-1 gene influences mucus plugging in severe asthma. Publication Status: Online-Only, [RefSeq, PubMed]; Association of single nucleotide polymorphisms in ITLN1 gene with ischemic stroke risk in Xi'an population, Shaanxi province. Publication Status: Online-Only, [RefSeq, PubMed]; BREAST CANCER-MODULATED OMENTIN AND VASPIN PLASMA LEVELS., [RefSeq, PubMed]; Expression of Intelectin-1, also known as Omentin-1, is related to clinical phenotypes such as overweight, obesity, insulin resistance, and changes after bariatric surgery. Publication Status: Online-Only, [RefSeq, PubMed]; Lectin that specifically recognizes microbial carbohydrate chains in a calcium-dependent manner (PubMed:11313366, PubMed:26148048). Binds to microbial glycans that contain a terminal acyclic 1,2-diol moiety, including beta-linked D-galactofuranose (beta-Galf), D-phosphoglycerol-modified glycans, D-glycero-D-talo-oct-2-ulosonic acid (KO) and 3-deoxy-D-manno-oct-2-ulosonic acid (KDO) (PubMed:26148048). Binds to glycans from Gram-positive and Gram-negative bacteria, including K.pneumoniae, S.pneumoniae, Y.pestis, P.mirabilis and P.vulgaris (PubMed:26148048). Does not bind human glycans (PubMed:26148048). Probably plays a role in the defense system against microorganisms (Probable). May function as adipokine that has no effect on basal glucose uptake but enhances insulin-stimulated glucose uptake in adipocytes (PubMed:16531507). Increases AKT phosphorylation in the absence and presence of insulin (PubMed:16531507). May interact with lactoferrin/LTF and increase its uptake, and may thereby play a role in iron absorption (PubMed:11747454, PubMed:23921499)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Omentin-1 attenuates lipopolysaccharide-induced inflammation and osteogenic differentiation in periodontal ligament stem cells and reduces M1 macrophages polarization through repressing endoplasmic reticulum stress., [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": 445, "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": "Q5IWS4;Q5VYI4;Q6YDJ3;Q9NP67", "ec_number_list": "", "go_molecular_function": "GO:0070492 oligosaccharide binding;GO:0042802 identical protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0043235 receptor complex;GO:0045121 membrane raft;GO:0070062 extracellular exosome", "go_biological_process": "GO:0001934 positive regulation of protein phosphorylation;GO:0070207 protein homotrimerization;GO:0046326 positive regulation of D-glucose import;GO:0009624 response to nematode", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q8WWA0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQ50-1", "uniprot_id": "RM40_HUMAN", "mass": 24490.0, "length": 206, "protein_name": "Large ribosomal subunit protein mL40", "gene_name": "MRPL40", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL40 isoform 1", "refseq_ac": "NP_003767", "gene_names_uniprotkb": "MRPL40; NLVCF; URIM", "gene_names_refseq": "L40mt; MRP-L22; MRP-L40; MRPL40; NLVCF; URIM; mL40", "protein_names_uniprotkb": "Large ribosomal subunit protein mL40; 39S ribosomal protein L40, mitochondrial; L40mt; MRP-L40; Nuclear localization signal-containing protein deleted in velocardiofacial syndrome; Up-regulated in metastasis", "protein_names_refseq": "39S ribosomal protein L40, mitochondrial; large ribosomal subunit protein mL40 isoform 1; mitochondrial large ribosomal subunit protein mL40; nuclear localization signal-containing protein deleted in velocardiofacial syndrome; up-regulated in metastasis", "tax_id": 9606, "disease": "chromosome 22q11.2 deletion syndrome, distal (Disease Ontology:DOID:0060413); DiGeorge syndrome (Disease Ontology:DOID:11198)", "pathway": " (hsa:64976); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 42, "publication_id_list": "10226592;15358359;17803939;18429816;18782833;19524667;19716793;20186120;21907147;22172991;2250005;23481700;25233460;25278503;25418920;25838379;27029019;27846572;28228285;28510447;28832583;28892042;29242379;29393594;30315122;30779550;31740674;31844290;32157095;32387766;33141586;33243891;33298915;33878294;33912179;34087483;34171305;36302763;36596788;37141370;37217939;9790763", "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. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]; Mitochondrial deficits in human iPSC-derived neurons from patients with 22q11.2 deletion syndrome and schizophrenia. 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": 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": "B3KVZ7;O95134", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005761 mitochondrial ribosome", "go_biological_process": "GO:0009653 anatomical structure morphogenesis;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9NQ50-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5W111-1", "uniprot_id": "SPRY7_HUMAN", "mass": 21666.0, "length": 196, "protein_name": "SPRY domain-containing protein 7", "gene_name": "SPRYD7", "organism": "Human", "refseq_name": "SPRY domain-containing protein 7 isoform 2", "refseq_ac": "NP_001120954", "gene_names_uniprotkb": "SPRYD7; C13orf1; CLLD6", "gene_names_refseq": "C13orf1; CLLD6; SPRYD7", "protein_names_uniprotkb": "SPRY domain-containing protein 7; CLL deletion region gene 6 protein; Chronic lymphocytic leukemia deletion region gene 6 protein", "protein_names_refseq": "CLL deletion region gene 6 protein; SPRY domain-containing protein 7 isoform 2; SPRY domain-containing protein 7; chronic lymphocytic leukemia deletion region gene 6 protein; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:57213)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11306461;22223895;25576301;26992070;28228285;28832583;28904123;29242379;29557506;29632711;30429286;30484775;31092671;31217245;31844290;31848261;32157095;32350084;32488085;32502341;32983136;33141586;33392160;33592498;33968037;33981976;35580925;36215666;36241641;37947626", "class_list": "", "function": "Functional Proteomics Characterization of the Role of SPRYD7 in Colorectal Cancer Progression and Metastasis. 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": "A8K3G1;O60648;Q8TBG8;Q96T69", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q5W111-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NHL6-1", "uniprot_id": "LIRB1_HUMAN", "mass": 70819.0, "length": 650, "protein_name": "Leukocyte immunoglobulin-like receptor subfamily B member 1", "gene_name": "LILRB1", "organism": "Human", "refseq_name": "leukocyte immunoglobulin-like receptor subfamily B member 1 isoform 2 precursor", "refseq_ac": "NP_001075106", "gene_names_uniprotkb": "LILRB1; ILT2; LIR1; MIR7", "gene_names_refseq": "CD85J; ILT-2; ILT2; LILRB1; LIR-1; LIR1; MIR-7; MIR7; PIR-B; PIRB", "protein_names_uniprotkb": "Leukocyte immunoglobulin-like receptor subfamily B member 1; CD85 antigen-like family member J; ILT-2; Immunoglobulin-like transcript 2; LIR-1; Leukocyte immunoglobulin-like receptor 1; MIR-7; Monocyte/macrophage immunoglobulin-like receptor 7", "protein_names_refseq": "CD85 antigen-like family member J; Ig-like transcript 2; immunoglobulin heavy chain variable region; leucocyte Ig-like receptor B1; leukocyte immunoglobulin-like receptor subfamily B member 1 isoform 2 precursor; leukocyte immunoglobulin-like receptor subfamily B member 1; leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1; monocyte/macrophage immunoglobulin-like receptor 7; myeloid inhibitory receptor 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:10859); (R-HSA-198933)", "pathway_count": 2, "publication_count": 118, "publication_id_list": "10499918;10591185;10746781;10941837;11114384;11237011;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11907092;11955593;11955595;11955599;12213321;12483297;12588680;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15474475;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16455647;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19304799;19359216;19592130;19658091;20448110;20600445;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24190977;24305946;24453251;25703557;25716998;26284469;26300885;28636952;29262349;29314611;29789417;30573663;30626607;31154438;32502341;32983136;33043033;33298915;33633747;33912179;33968037;34357683;34932366;35051231;35580925;37074911;37686397;37938771;38253038;38393969;38982045;39030302;7531291;7542404;8178173;8995416;9259559;9285411;9285412;9314561;9700512;9730896;9842885", "class_list": "", "function": "HLA-F and LILRB1 Genetic Polymorphisms Associated with Alloimmunisation in Sickle Cell Disease. Publication Status: Online-Only, [RefSeq, PubMed]; ILT2 and ILT4 Drive Myeloid Suppression via Both Overlapping and Distinct Mechanisms., [RefSeq, PubMed]; LILRB1-HLA-G axis defines a checkpoint driving natural killer cell exhaustion in tuberculosis., [RefSeq, PubMed]; Leukocyte immunoglobulin-like receptor B1 (LILRB1) protects human multiple myeloma cells from ferroptosis by maintaining cholesterol homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C, HLA-G and HLA-F alleles (PubMed:16455647, PubMed:28636952). Receptor for H301/UL18, a human cytomegalovirus class I MHC homolog. Ligand binding results in inhibitory signals and down-regulation of the immune response. Engagement of LILRB1 present on natural killer cells or T-cells by class I MHC molecules protects the target cells from lysis. Interaction with HLA-B or HLA-E leads to inhibition of FCER1A signaling and serotonin release. Inhibits FCGR1A-mediated phosphorylation of cellular proteins and mobilization of intracellular calcium ions (PubMed:11907092, PubMed:9285411, PubMed:9842885). Recognizes HLA-G in complex with B2M/beta-2 microglobulin and a nonamer self-peptide (PubMed:16455647). Upon interaction with peptide-bound HLA-G-B2M complex, triggers secretion of growth-promoting factors by decidual NK cells (PubMed:19304799, PubMed:29262349). Reprograms B cells toward an immune suppressive phenotype (PubMed:24453251)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple 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": 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": 1, "reported_phosphosites": 4, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A2IXV4;A8MXT0;O75024;O75025;Q8NHJ9;Q8NHK0", "ec_number_list": "", "go_molecular_function": "GO:0030109 HLA-B specific inhibitory MHC class I receptor activity;GO:0032394 MHC class Ib receptor activity;GO:0042803 protein homodimerization activity;GO:0042169 SH2 domain binding;GO:0008157 protein phosphatase 1 binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0071635 negative regulation of transforming growth factor beta production;GO:0032693 negative regulation of interleukin-10 production;GO:2000669 negative regulation of dendritic cell apoptotic process;GO:0045806 negative regulation of endocytosis", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "Q8NHL6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96E66-1", "uniprot_id": "LRC51_HUMAN", "mass": 22206.0, "length": 192, "protein_name": "Leucine-rich repeat-containing protein 51", "gene_name": "LRRC51", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 51 isoform 4", "refseq_ac": "NP_001138779", "gene_names_uniprotkb": "LRRC51; LRTOMT", "gene_names_refseq": "LRRC51", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 51; Protein LRTOMT1", "protein_names_refseq": "leucine-rich repeat-containing protein 51 isoform 4; leucine-rich repeat-containing protein 51", "tax_id": 9606, "disease": "", "pathway": " (hsa:120356739)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;18953341;29557506;29632046;29789417;31844290;31848261;33392160;35580925", "class_list": "", "function": "This gene belongs to the leucine-rich repeat containing family. The encoded protein contains a transmembrane domain and two leucine-rich repeat domains. Unlike in mouse and other mammals, readthrough transcription is observed in primates between this gene and the adjacent transmembrane O-methyltransferase (Tomt) gene. Previously, this locus was annotated as a single gene representing the readthrough transcripts as well as the two different transcript species that encoded different proteins. It has since been split into three genes, including the two stand-alone genes and a third gene representing the readthrough transcription. [provided by RefSeq, Feb 2022]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B2R7X1;B6CZ35;B6CZ36;B6CZ37;B6CZ38;B6CZ39;B7Z5I4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005930 axoneme;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q96E66-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y4E5-1", "uniprot_id": "ZN451_HUMAN", "mass": 121484.0, "length": 1061, "protein_name": "E3 SUMO-protein ligase ZNF451", "gene_name": "ZNF451", "organism": "Human", "refseq_name": "E3 SUMO-protein ligase ZNF451 isoform 1", "refseq_ac": "NP_001026794", "gene_names_uniprotkb": "ZNF451; COASTER; KIAA0576; KIAA1702", "gene_names_refseq": "COASTER; ZATT; ZNF451; dJ417I1.1", "protein_names_uniprotkb": "E3 SUMO-protein ligase ZNF451; 2.3.2.-; Coactivator for steroid receptors; E3 SUMO-protein transferase ZNF451; Zinc finger protein 451", "protein_names_refseq": "E3 SUMO-protein ligase ZNF451 isoform 1; E3 SUMO-protein ligase ZNF451; E3 SUMO-protein transferase ZNF451; coactivator for steroid receptors; zinc finger protein associated with TDP2 and TOP2", "tax_id": 9606, "disease": "", "pathway": " (hsa:26036)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "11237011;18656483;23186163;23481700;24129315;24324267;24366607;24715725;25114211;25218447;25576301;25645385;25755297;25772364;26154972;26375851;26524493;26524494;26992070;27600516;27920218;28228285;28649982;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29632711;29786170;30315122;30379171;30429286;30484775;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33548202;33592498;33691108;33717175;33912179;33968037;33981976;34171305;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36209117;36241641;36284347;37342906", "class_list": "", "function": "Data describe ZNF451, a nuclear protein that can be associated with promyelocytic leukemia bodies, and exerts its effects via SUMO modification machinery and trafficking of transcription regulators between promyelocytic leukemia bodies and nucleoplasm., [RefSeq, PubMed]; E3 SUMO-protein ligase; has a preference for SUMO2 and SUMO3 and facilitates UBE2I/UBC9-mediated sumoylation of target proteins (PubMed:26524493, PubMed:26524494). Plays a role in protein SUMO2 modification in response to stress caused by DNA damage and by proteasome inhibitors (in vitro). Required for MCM4 sumoylation (By similarity). Has no activity with SUMO1 (PubMed:26524493). Preferentially transfers an additional SUMO2 chain onto the SUMO2 consensus site 'Lys-11' (PubMed:26524493). Negatively regulates transcriptional activation mediated by the SMAD4 complex in response to TGF-beta signaling. Inhibits EP300-mediated acetylation of histone H3 at 'Lys-9' (PubMed:24324267). Plays a role in regulating the transcription of AR targets (PubMed:18656483)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Exosomal circZNF451 restrains anti-PD1 treatment in lung adenocarcinoma via polarizing macrophages by complexing with TRIM56 and FXR1. Publication Status: Online-Only, [RefSeq, PubMed]; Stress-induced nuclear condensation of NELF drives transcriptional downregulation., [RefSeq, PubMed]; ZNF451 favors triple-negative breast cancer progression by enhancing SLUG-mediated CCL5 transcriptional 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": 2, "reported_mutagensis": 11, "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": "Q5VVE9;Q5VVF1;Q86YE4;Q8N380;Q8TD15;Q9C0G1;Q9NQM1", "ec_number_list": "", "go_molecular_function": "GO:0061665 SUMO ligase activity;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0016605 PML body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0016925 protein sumoylation;GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway;GO:0060633 negative regulation of transcription initiation by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9Y4E5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BUD6-1", "uniprot_id": "SPON2_HUMAN", "mass": 35788.0, "length": 331, "protein_name": "Spondin-2", "gene_name": "SPON2", "organism": "Human", "refseq_name": "spondin-2 precursor", "refseq_ac": "NP_001121797", "gene_names_uniprotkb": "SPON2; DIL1; PRO866", "gene_names_refseq": "DIL-1; DIL1; M-SPONDIN; MINDIN; SPON2", "protein_names_uniprotkb": "Spondin-2; DIL-1; Differentially expressed in cancerous and non-cancerous lung cells 1; Mindin", "protein_names_refseq": "differentially expressed in cancerous and non-cancerous lung cells 1; spondin 2, extracellular matrix protein; spondin-2 precursor", "tax_id": 9606, "disease": "meningioma (Disease Ontology:DOID:3565)", "pathway": " (hsa:10417); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 3, "publication_count": 21, "publication_id_list": "10512675;11067851;11237011;12975309;16464858;18720094;19153605;19796186;22588082;23889335;25544610;27726376;28832583;30459171;31848261;34583750;36284347;36427776;36484410;37130106;37713832", "class_list": "", "function": "Cell adhesion protein that promotes adhesion and outgrowth of hippocampal embryonic neurons. Binds directly to bacteria and their components and functions as an opsonin for macrophage phagocytosis of bacteria. Essential in the initiation of the innate immune response and represents a unique pattern-recognition molecule in the ECM for microbial pathogens (By similarity). Binds bacterial lipopolysaccharide (LPS)., [UniProtKB]; Comprehensive analysis of the oncogenic and immunological role of SPON2 in human tumors., [RefSeq, PubMed]; In situ assessment of Mindin as a biomarker of podocyte lesions in diabetic nephropathy. Publication Status: Online-Only, [RefSeq, PubMed]; Prostate cancer cellderived spondin 2 boosts osteogenic factor levels in osteoblasts via the PI3K/AKT/mTOR pathway., [RefSeq, PubMed]; SPON2 promotes the bone metastasis of lung adenocarcinoma via activation of the NF-kappaB signaling pathway., [RefSeq, PubMed]; The structure of the F-spondin domain of mindin was determined at 1.8-A resolution., [RefSeq, PubMed]; Tumor cell-derived SPON2 promotes M2-polarized tumor-associated macrophage infiltration and cancer progression by activating PYK2 in CRC. 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": 1, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 1, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 1, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 1, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 18, "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": "D3DVN9;Q4W5N4;Q9ULW1", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0001530 lipopolysaccharide binding;GO:0003823 antigen binding", "go_cellular_component": "GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007155 cell adhesion;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9BUD6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BSF0-1", "uniprot_id": "SMAKA_HUMAN", "mass": 10970.0, "length": 95, "protein_name": "A-kinase anchoring protein 19", "gene_name": "AKAP19", "organism": "Human", "refseq_name": "A-kinase anchoring protein 19", "refseq_ac": "NP_001035984", "gene_names_uniprotkb": "AKAP19; C2orf88", "gene_names_refseq": "AKAP19; C2orf88; smAKAP", "protein_names_uniprotkb": "A-kinase anchoring protein 19; Small membrane A-kinase anchor protein; Small membrane AKAP; smAKAP", "protein_names_refseq": "A-kinase anchoring protein 19; small A-kinase anchoring protein; small membrane A-kinase anchor protein; small membrane AKAP", "tax_id": 9606, "disease": "", "pathway": " (hsa:84281)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;16303743;20934997;23115245;23186163;25892735;27028580;28832583;29557506;29769354", "class_list": "", "function": "Binds to type I regulatory subunits of protein kinase A (PKA-RI) and anchors/targets them to the plasma membrane., [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": 3, "reported_mutagensis": 4, "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": "D3DPI3;P0C876;Q53TC7", "ec_number_list": "", "go_molecular_function": "GO:0034237 protein kinase A regulatory subunit binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9BSF0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P10914-1", "uniprot_id": "IRF1_HUMAN", "mass": 36502.0, "length": 325, "protein_name": "Interferon regulatory factor 1", "gene_name": "IRF1", "organism": "Human", "refseq_name": "interferon regulatory factor 1 isoform 1", "refseq_ac": "NP_002189", "gene_names_uniprotkb": "IRF1", "gene_names_refseq": "IMD117; IRF-1; IRF1; MAR", "protein_names_uniprotkb": "Interferon regulatory factor 1; IRF-1", "protein_names_refseq": "interferon regulatory factor 1 isoform 1", "tax_id": 9606, "disease": "immunodeficiency 117 (Disease Ontology:DOID:0061083); stomach cancer (Disease Ontology:DOID:10534); allergic conjunctivitis (Disease Ontology:DOID:11204); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); lung cancer (Disease Ontology:DOID:1324); asthma (Disease Ontology:DOID:2841); endometrial adenocarcinoma (Disease Ontology:DOID:2870); gastric adenocarcinoma (Disease Ontology:DOID:3717); lung non-small cell carcinoma (Disease Ontology:DOID:3908); ureteral obstruction (Disease Ontology:DOID:5199); lung disease (Disease Ontology:DOID:850); smallpox (Disease Ontology:DOID:8736)", "pathway": " (hsa:3659); (R-HSA-5620971); (R-HSA-877300); (R-HSA-909733); (R-HSA-983231); (R-HSA-9909649)", "pathway_count": 6, "publication_count": 232, "publication_id_list": "10067896;10094406;10395669;10395927;10542297;10982844;10986460;11042108;11062261;11092454;11237011;11242053;11244049;11337497;11377645;11404376;11585831;11744692;11751636;11846971;11846974;11895428;11950885;11972023;12029096;12032298;12040185;12134158;12427746;12438563;12446674;12766484;12842042;12915721;1382447;1396683;14586410;14722222;14769151;15020713;15047845;1508672;15143187;15226432;15247287;15312780;15322115;15388922;15449939;15509808;15530433;15710388;15778442;16009940;16054028;16171819;16237089;1630448;16467876;16897187;16932750;16987978;17027967;17125875;17196961;17251292;1730654;17351669;17516545;17942705;17969444;18035202;18084608;18362138;18497060;18575461;18591661;18641303;19088198;19293402;19404407;19851330;19859801;20049431;20049711;20068231;20130243;20304997;20363976;20530532;20627800;20643137;21389130;218813;2211721;22200613;22367195;23061660;23121362;23481700;24029068;24417533;24714562;24715725;25371710;25418920;25880248;26154972;26375003;26508369;26845023;26992070;2726461;27281216;27383986;27418190;27862975;28045099;28392147;28459430;28904123;29177860;29493099;29539421;29557506;29891674;29898893;29990470;30143555;30385408;30484775;30485383;30854564;30976076;31113851;31217245;31844290;32032529;32109412;32113509;32157095;32183950;32188940;32265295;32367036;32385160;32488085;32502341;32511913;32574262;32661006;32758689;32784074;32820063;32860047;32862111;32897882;32938616;32983136;33117408;33189161;33193462;33239784;33396578;33691108;33717175;33912179;33936100;33968037;34078123;34087483;3409321;34171305;35051231;35318648;35580925;36284347;36736301;37622993;37938771;38542436;38554602;38601157;38833371;39213867;6162102;6548414;688397;7507207;7510216;7514165;7526154;7530745;7537377;7540766;7615558;7617032;7657660;7673114;7687740;7690989;7796299;8156998;8176225;8197134;8232552;8438156;8483949;8530158;8550631;8605876;8621447;8631301;8662638;8702790;8816476;9065479;9096384;9111318;9121453;9143706;9230307;9242679;9326583;9331217;9334213;9422515;9660177;9679752;9847332;9861020;9927674", "class_list": "", "function": "Cooperative interaction of interferon regulatory factor -1 and bromodomain-containing protein 4 on RNA polymerase activation for intrinsic innate immunity. Publication Status: Online-Only, [RefSeq, PubMed]; IRF1 Mediates Growth Arrest and the Induction of a Secretory Phenotype in Alveolar Epithelial Cells in Response to Inflammatory Cytokines IFNgamma/TNFalpha. Publication Status: Online-Only, [RefSeq, PubMed]; Interferon regulatory factor 1 mediated inhibition of Treg cell differentiation induces maternal-fetal immune imbalance in preeclampsia., [RefSeq, PubMed]; Opposing tumor-cell-intrinsic and -extrinsic roles of the IRF1 transcription factor in antitumor immunity., [RefSeq, PubMed]; The protein encoded by this gene is a transcriptional regulator and tumor suppressor, serving as an activator of genes involved in both innate and acquired immune responses. The encoded protein activates the transcription of genes involved in the body's response to viruses and bacteria, playing a role in cell proliferation, apoptosis, the immune response, and DNA damage response. This protein represses the transcription of several other genes. As a tumor suppressor, it both suppresses tumor cell growth and stimulates an immune response against tumor cells. Defects in this gene have been associated with gastric cancer, myelogenous leukemia, and lung cancer. [provided by RefSeq, Aug 2017]., [RefSeq]; Transcriptional regulator which displays a remarkable functional diversity in the regulation of cellular responses (PubMed:15226432, PubMed:15509808, PubMed:17516545, PubMed:17942705, PubMed:18497060, PubMed:19404407, PubMed:19851330, PubMed:22367195, PubMed:32385160). Regulates transcription of IFN and IFN-inducible genes, host response to viral and bacterial infections, regulation of many genes expressed during hematopoiesis, inflammation, immune responses and cell proliferation and differentiation, regulation of the cell cycle and induction of growth arrest and programmed cell death following DNA damage (PubMed:15226432, PubMed:15509808, PubMed:17516545, PubMed:17942705, PubMed:18497060, PubMed:19404407, PubMed:19851330, PubMed:22367195, PubMed:7687740). Stimulates both innate and acquired immune responses through the activation of specific target genes and can act as a transcriptional activator and repressor regulating target genes by binding to an interferon-stimulated response element (ISRE) in their promoters (PubMed:15226432, PubMed:15509808, PubMed:17516545, PubMed:17942705, PubMed:18497060, PubMed:19404407, PubMed:19851330, PubMed:21389130, PubMed:22367195). Has an essential role in IFNG-dependent immunity to mycobacteria (PubMed:36736301). Competes with the transcriptional repressor ZBED2 for binding to a common consensus sequence in gene promoters (PubMed:32385160). Its target genes for transcriptional activation activity include: genes involved in anti-viral response, such as IFN-alpha/beta, RIGI, TNFSF10/TRAIL, ZBP1, OAS1/2, PIAS1/GBP, EIF2AK2/PKR and RSAD2/viperin; antibacterial response, such as GBP2, GBP5 and NOS2/INOS; anti-proliferative response, such as p53/TP53, LOX and CDKN1A; apoptosis, such as BBC3/PUMA, CASP1, CASP7 and CASP8; immune response, such as IL7, IL12A/B and IL15, PTGS2/COX2 and CYBB; DNA damage responses and DNA repair, such as POLQ/POLH; MHC class I expression, such as TAP1, PSMB9/LMP2, PSME1/PA28A, PSME2/PA28B and B2M and MHC class II expression, such as CIITA; metabolic enzymes, such as ACOD1/IRG1 (PubMed:15226432, PubMed:15509808, PubMed:17516545, PubMed:17942705, PubMed:18497060, PubMed:19404407, PubMed:19851330, PubMed:22367195). Represses genes involved in anti-proliferative response, such as BIRC5/survivin, CCNB1, CCNE1, CDK1, CDK2 and CDK4 and in immune response, such as FOXP3, IL4, ANXA2 and TLR4 (PubMed:18641303, PubMed:22200613). Stimulates p53/TP53-dependent transcription through enhanced recruitment of EP300 leading to increased acetylation of p53/TP53 (PubMed:15509808, PubMed:18084608). Plays an important role in immune response directly affecting NK maturation and activity, macrophage production of IL12, Th1 development and maturation of CD8+ T-cells (PubMed:11244049, PubMed:11846971, PubMed:11846974, PubMed:16932750). Also implicated in the differentiation and maturation of dendritic cells and in the suppression of regulatory T (Treg) cells development (PubMed:11244049, PubMed:11846971, PubMed:11846974, PubMed:16932750). Acts as a tumor suppressor and plays a role not only in antagonism of tumor cell growth but also in stimulating an immune response against tumor cells (PubMed:20049431)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Transcriptomics confirms IRF1 as a key regulator of pyroptosis in diabetic retinopathy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 12, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96GG7", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;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_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:2000564 regulation of CD8-positive, alpha-beta T cell proliferation;GO:0034124 regulation of MyD88-dependent toll-like receptor signaling pathway;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 23.3, "record_id": "P10914-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P272-1", "uniprot_id": "TRM9B_HUMAN", "mass": 51299.0, "length": 454, "protein_name": "Probable tRNA methyltransferase 9B", "gene_name": "TRMT9B", "organism": "Human", "refseq_name": "probable tRNA methyltransferase 9B isoform 1", "refseq_ac": "NP_065895", "gene_names_uniprotkb": "TRMT9B; C8orf79; KIAA1456; TRM9L", "gene_names_refseq": "C8orf79; KIAA1456; TRM9L; TRMT9B; hTRM9L", "protein_names_uniprotkb": "Probable tRNA methyltransferase 9B; 2.1.1.-; Probable tRNA methyltransferase 9-like protein", "protein_names_refseq": "probable tRNA methyltransferase 9-like protein; probable tRNA methyltransferase 9B isoform 1; probable tRNA methyltransferase 9B", "tax_id": 9606, "disease": "", "pathway": " (hsa:57604); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10430867;10982862;11027153;11111046;11237011;12403464;15861136;15870694;15994936;16043508;16424344;17071714;18567810;19017811;19414587;20123966;20308323;20354154;20584901;21059936;21131277;22344696;22591353;22995836;23042678;23048041;23381944;23604283;23647072;24126054;24204302;24901367;25261850;25404562;25645385;25916855;26160102;26310293;27055666;27609572;30009260;30484775;31481669;31844290;32157095;35580925;36610787;9430663;9851972", "class_list": "", "function": "May modify wobble uridines in specific arginine and glutamic acid tRNAs. Acts as a tumor suppressor by promoting the expression of LIN9., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Over-expression of KIAA1456 inhibits the proliferation of HO8910PM ovarian cancer cells and arrests the cell cycle in G1 phase., [RefSeq, PubMed]; Study links hTRM9L and tRNA modifications to inhibition of tumour growth via LIN9 and HIF1-alpha-dependent 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": 5, "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": "K7EM26;Q8N9K7;Q96AW6", "ec_number_list": "2.1.1.-", "go_molecular_function": "GO:0008175 tRNA methyltransferase activity;GO:0000049 tRNA binding;GO:0008757 S-adenosylmethionine-dependent methyltransferase activity;GO:0106335 tRNA (5-carboxymethyluridine(34)-5-O)-methyltransferase activity;GO:0008168 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006400 tRNA modification;GO:0002098 tRNA wobble uridine modification;GO:0030488 tRNA methylation;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9P272-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15037-1", "uniprot_id": "KHNYN_HUMAN", "mass": 74534.0, "length": 678, "protein_name": "Protein KHNYN", "gene_name": "KHNYN", "organism": "Human", "refseq_name": "protein KHNYN isoform 2", "refseq_ac": "NP_001277185", "gene_names_uniprotkb": "KHNYN; KIAA0323", "gene_names_refseq": "KHNYN; KIAA0323", "protein_names_uniprotkb": "Protein KHNYN; KH and NYN domain-containing protein", "protein_names_refseq": "protein KHNYN isoform 2; protein KHNYN", "tax_id": 9606, "disease": "", "pathway": " (hsa:23351)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;17081983;19651622;20068231;20800603;23186163;23481700;24275569;25576301;26375851;27600516;27846572;28832583;28834231;29242379;29493099;29508533;29557506;29632711;29789417;30315122;30429286;31284899;31844290;31998317;32157095;32161166;32350084;32502341;32938616;32983136;33298915;33392160;33717175;33968037;35051231;35154160;35580925;36241641;38376822", "class_list": "", "function": "Crystallization and biochemical studies of the NYN domain of human KHNYN., [RefSeq, PubMed]; KHNYN as a novel cofactor for ZAP to target CpG-containing retroviral RNA for degradation. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene contains a ribonuclease NYN domain and belongs to the N4BP1 family. The protein is a cofactor for the zinc finger antiviral protein (ZAP protein) which targets viral RNA for degradation and restricts SARS-CoV-2 infection. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q86TZ6;Q8IUQ2;Q96BA9", "ec_number_list": "", "go_molecular_function": "GO:0003729 mRNA binding;GO:0004521 RNA endonuclease activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0036464 cytoplasmic ribonucleoprotein granule", "go_biological_process": "GO:0061158 3'-UTR-mediated mRNA destabilization", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "O15037-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86W47-1", "uniprot_id": "KCMB4_HUMAN", "mass": 23949.0, "length": 210, "protein_name": "Calcium-activated potassium channel subunit beta-4", "gene_name": "KCNMB4", "organism": "Human", "refseq_name": "calcium-activated potassium channel subunit beta-4", "refseq_ac": "NP_055320", "gene_names_uniprotkb": "KCNMB4", "gene_names_refseq": "KCNMB4", "protein_names_uniprotkb": "Calcium-activated potassium channel subunit beta-4; BK channel subunit beta-4; BKbeta4; Calcium-activated potassium channel, subfamily M subunit beta-4; Charybdotoxin receptor subunit beta-4; Hbeta4; K(VCA)beta-4; Maxi K channel subunit beta-4; Slo-beta-4", "protein_names_refseq": "BK channel beta subunit 4; BK channel subunit beta-4; BKbeta4; MaxiK channel beta-subunit 4; big potassium channel beta subunit 4; calcium-activated potassium channel subunit beta-4; calcium-activated potassium channel, subfamily M subunit beta-4; charybdotoxin receptor subunit beta-4; hbeta4; k(VCA)beta-4; large conductance calcium-dependent potassium ion channel beta 4 subunit; maxi K channel subunit beta-4; potassium channel subfamily M regulatory beta subunit 4; potassium large conductance calcium-activated channel, subfamily M, beta member 4; slo-beta-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:27345); (R-HSA-1296052); (R-HSA-418457)", "pathway_count": 3, "publication_count": 19, "publication_id_list": "10692449;10792058;10804197;10828459;11237011;11790768;12136044;12223479;16990611;19074509;20178789;20859064;25190810;25300797;25561520;31815672;32157095;34562210;8557689", "class_list": "", "function": "BK channel beta4 subunit influences sensitivity and tolerance to alcohol by altering its response to kinases, [RefSeq, PubMed]; Family-Based Cohort Association Study of PRKCB1, CBLN1 and KCNMB4 Gene Polymorphisms and Autism in Polish Population., [RefSeq, PubMed]; MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which slows activation kinetics, leads to steeper calcium sensitivity, and shifts the voltage range of current activation to more negative potentials than does the beta 1 subunit. [provided by RefSeq, Jul 2008]., [RefSeq]; Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Decreases the gating kinetics and calcium sensitivity of the KCNMA1 channel, but with fast deactivation kinetics. May decrease KCNMA1 channel openings at low calcium concentrations but increases channel openings at high calcium concentrations. Makes KCNMA1 channel resistant to 100 nM charybdotoxin (CTX) toxin concentrations., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; This study presents cryo-EM structures of Slo1 in complex with the auxiliary protein, beta4. Four beta4, each containing two transmembrane helices, encircle Slo1, contacting it through helical interactions inside the membrane. Publication Status: Online-Only, [RefSeq, PubMed]; Two recurrent fusion genes associated with the 12q locus, LRP1-SNRNP25 and KCNMB4-CCND3, were by RT-PCR, Sanger sequencing and FISH, and were found to be osteosarcoma specific in a validation cohort of 240 other sarcomas. 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": 3, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8IVR3;Q9NPA4;Q9P0G5", "ec_number_list": "", "go_molecular_function": "GO:0015459 potassium channel regulator activity;GO:0015269 calcium-activated 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:0045202 synapse;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:0019228 neuronal action potential;GO:0001508 action potential;GO:0007268 chemical synaptic transmission;GO:0019229 regulation of vasoconstriction;GO:0046928 regulation of neurotransmitter secretion", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q86W47-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6IE38-1", "uniprot_id": "ISK14_HUMAN", "mass": 11057.0, "length": 97, "protein_name": "Serine protease inhibitor Kazal-type 14", "gene_name": "SPINK14", "organism": "Human", "refseq_name": "serine protease inhibitor Kazal-type 14 precursor", "refseq_ac": "NP_001001325", "gene_names_uniprotkb": "SPINK14; SPINK5L2", "gene_names_refseq": "SPINK14; SPINK5L2", "protein_names_uniprotkb": "Serine protease inhibitor Kazal-type 14", "protein_names_refseq": "Kazal type serine protease inhibitor 5-like 2; serine protease inhibitor Kazal-type 14 precursor; serine protease inhibitor Kazal-type 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:408187)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;15060002", "class_list": "", "function": "May be a serine protease inhibitor., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "M1EY23", "ec_number_list": "", "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0045861 negative regulation of proteolysis", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6IE38-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VWQ0-1", "uniprot_id": "RSBN1_HUMAN", "mass": 90072.0, "length": 802, "protein_name": "Lysine-specific demethylase 9", "gene_name": "RSBN1", "organism": "Human", "refseq_name": "lysine-specific demethylase 9", "refseq_ac": "NP_060834", "gene_names_uniprotkb": "RSBN1; KDM9", "gene_names_refseq": "KDM9; ROSBIN; RSBN1", "protein_names_uniprotkb": "Lysine-specific demethylase 9; 1.14.11.-; KDM9; Round spermatid basic protein 1", "protein_names_refseq": "lysine demethylase 9; lysine-specific demethylase 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:54665)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;18305142;19565500;20068231;24714562;24715725;25576301;25772364;25880248;26154972;26811146;27397612;27846572;28904123;29557506;30779550;30833945;31844290;32157095;32357974;32387766;32502341;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34185709;34932366;35051231;35580925;36010968;36215666;36241641;38253038;40914422", "class_list": "", "function": "Histone demethylase that specifically demethylates dimethylated 'Lys-20' of histone H4 (H4K20me2) and trimethylated 'Lys-20' of histone H4 (H4K20me3) into monomethyl H4K20 (H4K20me1) thereby modulating chromosome architecture. May play a critical role in regulating H4K20 methylation during spermatogenesis., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8K937;Q6AI21;Q8TC33;Q9HA80;Q9NUP6", "ec_number_list": "1.14.11.-;1.14.11.65;1.14.99.66", "go_molecular_function": "GO:0035575 histone H4K20 demethylase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0048471 perinuclear region of cytoplasm;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q5VWQ0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43296-1", "uniprot_id": "ZN264_HUMAN", "mass": 70587.0, "length": 627, "protein_name": "Zinc finger protein 264", "gene_name": "ZNF264", "organism": "Human", "refseq_name": "zinc finger protein 264", "refseq_ac": "NP_003408", "gene_names_uniprotkb": "ZNF264; KIAA0412", "gene_names_refseq": "ZNF264", "protein_names_uniprotkb": "Zinc finger protein 264", "protein_names_refseq": "zinc finger protein 264", "tax_id": 9606, "disease": "", "pathway": " (hsa:9422); (R-HSA-212436); (R-HSA-9843940)", "pathway_count": 3, "publication_count": 63, "publication_id_list": "10235266;10330177;11237011;11395415;11959841;12869583;14519192;14536086;15175151;15592455;15882967;15896744;16567619;16606702;16719718;16954381;17525332;18077418;18082607;18669648;19664994;2028256;2163759;24715725;25274305;25505266;26813693;27600516;27920218;28273063;28832583;28855257;28904123;29242379;29393594;29493099;30429286;31154438;31289231;31427381;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32983136;33298915;33592498;33717175;33912179;33968037;34185709;35051231;35580925;36010968;36284347;8183939;8769649;9016654;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; This gene encodes a zinc finger protein and belongs to the krueppel C2H2-type zinc-finger protein family. Zinc finger proteins are often localized in the nucleus, bind nucleic acids, and regulate transcription. [provided by RefSeq, Jan 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": 7, "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": "A8K8Y9;Q9P1V0", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "O43296-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43790-1", "uniprot_id": "KRT86_HUMAN", "mass": 53501.0, "length": 486, "protein_name": "Keratin, type II cuticular Hb6", "gene_name": "KRT86", "organism": "Human", "refseq_name": "keratin, type II cuticular Hb6", "refseq_ac": "NP_001307127", "gene_names_uniprotkb": "KRT86; KRTHB6", "gene_names_refseq": "HB6; Hb1; K86; KRT86; KRTHB1; KRTHB6; MNX; NMLIX1", "protein_names_uniprotkb": "Keratin, type II cuticular Hb6; Hair keratin K2.11; K86; Keratin-86; Type II hair keratin Hb6; Type-II keratin Kb26; hHb6", "protein_names_refseq": "hair keratin K2.11; hard keratin, type II, 6; keratin 86, type II; keratin protein HB6; keratin, hair, basic, 6 (monilethrix); keratin, type II cuticular Hb6; type II hair keratin Hb6; type-II keratin Kb26", "tax_id": 9606, "disease": "monilethrix 1 (Disease Ontology:DOID:0061145); hair disease (Disease Ontology:DOID:421)", "pathway": " (hsa:3892); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "10066784;10196183;10231017;10411887;10469314;10504448;10588656;10594761;10771479;11237011;11350120;11380615;11445569;11590230;12902340;15033990;15337775;15373777;15744029;15797384;15803139;16061697;16382671;16639001;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;2414304;25208914;25557232;25809918;25926655;26390218;26992070;28904123;29557506;29701253;30315122;31611695;31844290;32387766;32488085;32938616;33214551;34019948;34357683;38594178;38665916;7543090;8824274;8999895;9084137;9241275;9395522;9402962;9457912;9468612;9565599;9804356", "class_list": "", "function": "Analysis of KRT86 revealed a novel mutation, c.1231G>T;p.Glu411*, in exon 7 in the three affected children and their mother with monilethrix., [RefSeq, PubMed]; Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family., [RefSeq, PubMed]; Structural component of intermediate filaments in the hair shaft (PubMed:15744029, PubMed:25557232). Forms obligate heterodimers with type I hair keratins, which assemble into keratin intermediate filaments that contribute to the structural integrity and mechanical strength of the hair shaft (PubMed:15744029, PubMed:25557232)., [UniProtKB, PubMed, PubMed]; Study reported here a three-generation Chinese family with autosomal dominant monilethrix carrying a novel missense mutation c.1223G>C in KRT86., [RefSeq, PubMed]; This gene encodes a type II keratin protein, which heterodimerizes with type I keratins to form hair and nails. This gene is present in a cluster of related genes and pseudogenes on chromosome 12. Mutations in this gene have been observed in patients with the hair disease monilethrix. [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": 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": "P78387", "ec_number_list": "", "go_molecular_function": "GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;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": 7.8, "record_id": "O43790-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PC2-1", "uniprot_id": "IP6K3_HUMAN", "mass": 46417.0, "length": 410, "protein_name": "Inositol hexakisphosphate kinase 3", "gene_name": "IP6K3", "organism": "Human", "refseq_name": "inositol hexakisphosphate kinase 3", "refseq_ac": "NP_001136355", "gene_names_uniprotkb": "IP6K3; IHPK3", "gene_names_refseq": "IHPK3; INSP6K3; IP6K3", "protein_names_uniprotkb": "Inositol hexakisphosphate kinase 3; 2.7.4.21; Inositol hexaphosphate kinase 3; InsP6 kinase 3", "protein_names_refseq": "ATP:1D-myo-inositol-hexakisphosphate phosphotransferase; InsP6 kinase 3; inositol hexakisphosphate kinase 3; inositol hexaphosphate kinase 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:117283); (R-HSA-1855167)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "10419486;10585413;10777568;10827188;11042108;11237011;11502751;11909533;12084730;12105228;12121577;17412958;17690096;17702752;17705785;18355727;18767875;18981179;19851445;22119861;27345265;27577108;31848261;33392160;33497757;34381031;36284347;9822604", "class_list": "", "function": "High levels of IP6K3 mRNA were found in myotubes and muscle tissues. In myotubes, IP6K3 was upregulated by dexamethasone treatment, which is known to inhibit glucose metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; IP6K3 and IPMK variations in LOAD and longevity: Evidence for a multifaceted signaling network at the crossroad between neurodegeneration and survival., [RefSeq, PubMed]; Kinase that converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5)(PubMed:11502751, PubMed:34381031). Regulates cellular phosphate export by binding to the SPX domain of the XPR1 phosphate transporter (PubMed:34381031)., [UniProtKB, PubMed, UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]., [RefSeq]; Two SNPs in the 5'-flanking promoter region of the IP6K3 gene were found to be associated with sporadic late onset Alzheimer's disease. Characterizing the functionality of the two polymorphisms by luciferase assay revealed that one of them (rs28607030) affects IP6K3 promoter activity, with the G allele showing an increased 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": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96MQ9", "ec_number_list": "2.7.4.21;2.7.-.-;2.7.4.-", "go_molecular_function": "GO:0000827 inositol-1,3,4,5,6-pentakisphosphate kinase activity;GO:0000828 inositol hexakisphosphate kinase activity;GO:0000829 diphosphoinositol pentakisphosphate kinase activity;GO:0000832 inositol hexakisphosphate 5-kinase activity;GO:0052836 inositol 5-diphosphate pentakisphosphate 5-kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0046488 phosphatidylinositol metabolic process;GO:0046854 phosphatidylinositol phosphate biosynthetic process;GO:0043647 inositol phosphate metabolic process;GO:0032958 inositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q96PC2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NCA9-1", "uniprot_id": "ZN784_HUMAN", "mass": 34237.0, "length": 323, "protein_name": "Zinc finger protein 784", "gene_name": "ZNF784", "organism": "Human", "refseq_name": "zinc finger protein 784", "refseq_ac": "NP_976308", "gene_names_uniprotkb": "ZNF784", "gene_names_refseq": "ZNF784", "protein_names_uniprotkb": "Zinc finger protein 784", "protein_names_refseq": "zinc finger protein 784", "tax_id": 9606, "disease": "", "pathway": " (hsa:147808)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;20166139;23186163;25218447;25576301;25772364;29557506;31844290;33968037;33981976;35051231", "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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8NCA9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P18054-1", "uniprot_id": "LOX12_HUMAN", "mass": 75694.0, "length": 663, "protein_name": "Polyunsaturated fatty acid lipoxygenase ALOX12", "gene_name": "ALOX12", "organism": "Human", "refseq_name": "polyunsaturated fatty acid lipoxygenase ALOX12", "refseq_ac": "NP_000688", "gene_names_uniprotkb": "ALOX12; 12LO; LOG12", "gene_names_refseq": "12-LOX; 12S-LOX; ALOX12; LOG12", "protein_names_uniprotkb": "Polyunsaturated fatty acid lipoxygenase ALOX12; 1.13.11.-; 1.13.11.31; 1.13.11.33; 12S-LOX; 12S-lipoxygenase; Arachidonate (12S)-lipoxygenase; Arachidonate (15S)-lipoxygenase; Linoleate (13S)-lipoxygenase; Lipoxin synthase 12-LO; Platelet-type lipoxygenase 12", "protein_names_refseq": "12S-lipoxygenase; Arachidonate 12-lipoxygenase, 12S-type; arachidonate (12S)-lipoxygenase; arachidonate (15S)-lipoxygenase; arachidonate 15-lipoxygenase,15S-type; linoleate 13S-lipoxygenase; lipoxin synthase 12-LO; platelet 12-LOX; platelet-type 12-lipoxygenase; platelet-type lipoxygenase 12; polyunsaturated fatty acid lipoxygenase ALOX12", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); breast cancer (Disease Ontology:DOID:1612); renal cell carcinoma (Disease Ontology:DOID:4450); esophageal cancer (Disease Ontology:DOID:5041); congestive heart failure (Disease Ontology:DOID:6000); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); psoriasis (Disease Ontology:DOID:8893); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:239); (R-HSA-2142696); (R-HSA-2142700); (R-HSA-2142712); (R-HSA-9018677); (R-HSA-9025106); (R-HSA-9026290)", "pathway_count": 7, "publication_count": 83, "publication_id_list": "10692117;10837478;11115402;11237011;12391014;12590139;12881489;1447217;15123652;15308583;15629692;1570320;16424216;16638750;17055291;17151091;17244615;17460548;17493578;18311922;1851637;18755188;19103881;19324874;19679107;20166139;20364438;2147774;21558561;2155925;2217179;22237009;2244907;22977504;22984144;2318885;23471029;23504711;23578768;23736886;2377602;24282679;24571431;25036362;26154972;26370990;26580578;26878209;27543614;27862975;27893789;28408222;29242379;29557506;29632711;30379171;32404334;33392160;34185709;34428433;35051231;35129022;35494241;35580925;3579953;35833141;36442529;37047037;3770188;6089195;6422933;6816802;7568157;8250832;8304420;8319693;8334154;8428933;8500694;8576264;8912711;9618483;9751607", "class_list": "", "function": "ALOX12: A Novel Insight in Bevacizumab Response, Immunotherapy Effect, and Prognosis of Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Biochemical and hydrogen-deuterium exchange studies of the single nucleotide polymorphism Y649C in human platelet 12-lipoxygenase linked to a bleeding disorder., [RefSeq, PubMed]; Catalyzes the regio and stereo-specific incorporation of molecular oxygen into free and esterified polyunsaturated fatty acids generating lipid hydroperoxides that can be further reduced to the corresponding hydroxy species (PubMed:17493578, PubMed:18311922, PubMed:1851637, PubMed:32404334, PubMed:8319693, PubMed:8500694). Mainly converts arachidonate ((5Z,8Z,11Z,14Z)-eicosatetraenoate) to the specific bioactive lipid (12S)-hydroperoxyeicosatetraenoate/(12S)-HPETE (PubMed:17493578, PubMed:22984144, PubMed:24282679, PubMed:8319693, PubMed:8500694). Through the production of bioactive lipids like (12S)-HPETE it regulates different biological processes including platelet activation (PubMed:8319693, PubMed:8500694). It can also catalyze the epoxidation of double bonds of polyunsaturated fatty acids such as (14S)-hydroperoxy-docosahexaenoate/(14S)-HPDHA resulting in the formation of (13S,14S)-epoxy-DHA (PubMed:23504711). Furthermore, it may participate in the sequential oxidations of DHA ((4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoate) to generate specialized pro-resolving mediators (SPMs) like resolvin D5 ((7S,17S)-diHPDHA) and (7S,14S)-diHPDHA, that actively down-regulate the immune response and have anti-aggregation properties with platelets (PubMed:32404334). An additional function involves a multistep process by which it transforms leukotriene A4/LTA4 into the bioactive lipids lipoxin A4/LXA4 and lipoxin B4/LXB4, both are vasoactive and LXA4 may regulate neutrophil function via occupancy of specific recognition sites (PubMed:8250832). Can also peroxidize linoleate ((9Z,12Z)-octadecadienoate) to (13S)-hydroperoxyoctadecadienoate/ (13S-HPODE) (By similarity). Due to its role in regulating both the expression of the vascular endothelial growth factor (VEGF, an angiogenic factor involved in the survival and metastasis of solid tumors) and the expression of integrin beta-1 (known to affect tumor cell migration and proliferation), it can be regarded as protumorigenic (PubMed:16638750, PubMed:22237009, PubMed:9751607). Important for cell survival, as it may play a role not only in proliferation but also in the prevention of apoptosis in vascular smooth muscle cells (PubMed:23578768)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Hydroperoxidation of Docosahexaenoic Acid by Human ALOX12 and pigALOX15-mini-LOX. Publication Status: Online-Only, [RefSeq, PubMed]; Key Role of 12-Lipoxygenase and Its Metabolite 12-Hydroxyeicosatetraenoic Acid (12-HETE) in Diabetic Retinopathy. Review article, [RefSeq, PubMed]; Platelets induce free and phospholipid-esterified 12-hydroxyeicosatetraenoic acid generation in colon cancer cells by delivering 12-lipoxygenase., [RefSeq, PubMed]; This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on different polyunsaturated fatty acid substrates to generate bioactive lipid mediators including eicosanoids and lipoxins. The encoded enzyme and its reaction products have been shown to regulate platelet function. Elevated expression of this gene has been observed in pancreatic islets derived from human diabetes patients. Allelic variants in this gene may be associated with susceptibility to toxoplasmosis. Multiple pseudogenes of this gene have been identified in the human genome. [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 10, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O95569;Q6ISF8;Q9UQM4", "ec_number_list": "1.13.11.-;1.13.11.33;1.13.11.34;1.13.11.31;1.13.11.12", "go_molecular_function": "GO:0005506 iron ion binding;GO:0004052 arachidonate 12(S)-lipoxygenase activity;GO:0016165 linoleate 13S-lipoxygenase activity;GO:0047977 hepoxilin-epoxide hydrolase activity;GO:0050473 arachidonate 15-lipoxygenase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0042383 sarcolemma", "go_biological_process": "GO:0034440 lipid oxidation;GO:0006629 lipid metabolic process;GO:0061436 establishment of skin barrier;GO:0043651 linoleic acid metabolic process;GO:0019395 fatty acid oxidation", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "P18054-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WUK0-1", "uniprot_id": "PTPM1_HUMAN", "mass": 22844.0, "length": 201, "protein_name": "Phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1", "gene_name": "PTPMT1", "organism": "Human", "refseq_name": "phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1 isoform 2", "refseq_ac": "NP_001137456", "gene_names_uniprotkb": "PTPMT1; MOSP; PLIP; PNAS-129", "gene_names_refseq": "DUSP23; MOSP; NEDAXBA; PLIP; PNAS-129; PTPMT1", "protein_names_uniprotkb": "Phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1; 3.1.3.16; 3.1.3.27; 3.1.3.48; PTEN-like phosphatase; Phosphoinositide lipid phosphatase; Protein-tyrosine phosphatase mitochondrial 1", "protein_names_refseq": "NB4 apoptosis/differentiation related protein; PTEN-like phosphatase; phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1 isoform 2; phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1; phosphoinositide lipid phosphatase", "tax_id": 9606, "disease": "neurodevelopmental disorder with ataxia and brain abnormalities (MONDO:MONDO:0978300)", "pathway": " (hsa:114971); (R-HSA-1483148)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "11237011;21641550;23326511;23481700;24709986;24714562;25892735;26992070;27600516;27846572;27920218;28510447;28832583;28834231;29242379;29393594;29769354;30429286;30524438;31844290;31848261;32157095;32357974;32387766;32938616;32983136;33298915;33503428;33537174;33592498;33691108;33968037;33992102;34087483;34171305;34185709;34405274;34509645;34561969;35580925;36010968;36215666;36241641;3718705;37938771;39279645;8380172;8530346;9140189;9407135;9761774", "class_list": "", "function": "Genome-wide CRISPR-Cas9 knockout library screening identified PTPMT1 in cardiolipin synthesis is crucial to survival in hypoxia in liver cancer., [RefSeq, PubMed]; Lipid phosphatase which dephosphorylates phosphatidylglycerophosphate (PGP) to phosphatidylglycerol (PG) (By similarity). PGP is an essential intermediate in the biosynthetic pathway of cardiolipin, a mitochondrial-specific phospholipid regulating the membrane integrity and activities of the organelle (PubMed:39279645). Has also been shown to display phosphatase activity toward phosphoprotein substrates, specifically mediates dephosphorylation of mitochondrial proteins, thereby playing an essential role in ATP production (By similarity). Has probably a preference for proteins phosphorylated on Ser and/or Thr residues compared to proteins phosphorylated on Tyr residues (By similarity). Probably involved in regulation of insulin secretion in pancreatic beta cells (By similarity). Prevents intrinsic apoptosis, by regulating mitochondrial membrane integrity (PubMed:24709986, PubMed:39279645)., [UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed]; Our data suggest that inhibition of PTPMT1 causes a metabolic crisis in cancer cells that induces cell death, and may be a mechanism by which cancer cells can be sensitized to currently available therapies., [RefSeq, PubMed]; Splicing factor SRSF1 promotes breast cancer progression via oncogenic splice switching of PTPMT1. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 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": "E9PAT8;Q7Z557;Q96CR2;Q9BXV8", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.21;3.1.3.18;3.1.3.-;3.1.3.95;3.1.3.36;3.1.3.64;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;3.1.3.74", "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity;GO:0008962 phosphatidylglycerophosphatase activity;GO:0004725 protein tyrosine phosphatase activity;GO:0102091 phosphatidylinositol-5-phosphate phosphatase activity;GO:0004721 phosphoprotein phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:2001242 regulation of intrinsic apoptotic signaling pathway;GO:0043653 mitochondrial fragmentation involved in apoptotic process;GO:0032049 cardiolipin biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q8WUK0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96GM5-1", "uniprot_id": "SMRD1_HUMAN", "mass": 58233.0, "length": 515, "protein_name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1", "gene_name": "SMARCD1", "organism": "Human", "refseq_name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 isoform a", "refseq_ac": "NP_003067", "gene_names_uniprotkb": "SMARCD1; BAF60A", "gene_names_refseq": "BAF60A; CRACD1; CSS11; Rsc6p; SMARCD1", "protein_names_uniprotkb": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1; 60 kDa BRG-1/Brm-associated factor subunit A; BAF60A; BRG1-associated factor 60A; SWI/SNF complex 60 kDa subunit", "protein_names_refseq": "60 kDa BRG-1/Brm-associated factor subunit A; SWI/SNF complex 60 kDa subunit A; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 isoform a; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1; Swp73-like protein; chromatin remodeling complex BAF60A subunit; mammalian chromatin remodeling complex BRG1-associated factor 60A", "tax_id": 9606, "disease": "Coffin-Siris syndrome 11 (Disease Ontology:DOID:0112372); familial hyperlipidemia (Disease Ontology:DOID:1168); alcohol use disorder (Disease Ontology:DOID:1574); Coffin-Siris syndrome (Disease Ontology:DOID:1925)", "pathway": " (hsa:6602); (R-HSA-3214858); (R-HSA-8939243); (R-HSA-9824585); (R-HSA-9845323); (R-HSA-9933937); (R-HSA-9933939); (R-HSA-9933946); (R-HSA-9933947); (R-HSA-9934037)", "pathway_count": 10, "publication_count": 136, "publication_id_list": "10078207;10587587;11237011;11341840;11448779;11532965;11747826;11751582;11756452;11856727;11964381;12062444;12368262;12917342;1321344;14698202;1537333;1537334;15485929;15543135;15640446;15695812;15729346;15985610;16265664;16303920;16917507;17182843;17215844;17498659;17640523;17898714;17952075;18079182;18404153;18483556;18695000;18697795;18765789;18809673;18812475;19234465;19389701;19717472;20460684;20506188;20951943;21316606;21555454;21774791;22231400;22325351;22464331;22952240;23481700;23644491;23785148;24267888;24714562;24715725;25576301;25880248;26154972;26365797;26601204;26694611;26728094;26992070;27846572;27862975;27920218;28063628;28510447;28533407;28832583;28834231;28904123;29242379;29331515;29374058;29393594;29437277;29557506;29632046;29786170;30315122;30429286;30484775;30515787;30620550;30833945;30879640;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32459350;32488085;32502341;32897882;32938616;32983136;33100333;33298915;33592498;33691108;33912179;33936100;33968037;34019948;34171305;34465901;34509645;34932366;35051231;35580127;35580925;36215666;36241641;37401939;37768825;37938771;38359823;39390150;40596516;40914422;7813420;8306979;8804307;8895581;8921401;9642256;9758418", "class_list": "", "function": "Integrated analysis reveals SMARCD1 is a potential biomarker and therapeutic target in skin cutaneous melanoma., [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:29374058, PubMed:8804307). 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). Has a strong influence on vitamin D-mediated transcriptional activity from an enhancer vitamin D receptor element (VDRE). May be a link between mammalian SWI-SNF-like chromatin remodeling complexes and the vitamin D receptor (VDR) heterodimer (PubMed:14698202). Mediates critical interactions between nuclear receptors and the BRG1/SMARCA4 chromatin-remodeling complex for transactivation (PubMed:12917342). Interacts with AKIRIN2 (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Myeloid BAF60a deficiency alters metabolic homeostasis and exacerbates atherosclerosis., [RefSeq, PubMed]; SMARCD1 is an essential expression-restricted metastasis modifier. 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. Two 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "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": "A6NN27;Q92924;Q9Y635", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0005102 signaling receptor binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016514 SWI/SNF complex;GO:0071564 npBAF complex;GO:0016363 nuclear matrix", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:2000819 regulation of nucleotide-excision repair;GO:0006338 chromatin remodeling;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "Q96GM5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75717-1", "uniprot_id": "WDHD1_HUMAN", "mass": 125967.0, "length": 1129, "protein_name": "WD repeat and HMG-box DNA-binding protein 1", "gene_name": "WDHD1", "organism": "Human", "refseq_name": "WD repeat and HMG-box DNA-binding protein 1 isoform 2", "refseq_ac": "NP_001008397", "gene_names_uniprotkb": "WDHD1; AND1", "gene_names_refseq": "AND-1; AND1; CHTF4; CTF4; WDHD1", "protein_names_uniprotkb": "WD repeat and HMG-box DNA-binding protein 1; Acidic nucleoplasmic DNA-binding protein 1; And-1", "protein_names_refseq": "Acidic nucleoplasmic DNA-binding protein 1; CTF4, chromosome transmission fidelity factor 4 homolog; WD repeat and HMG-box DNA-binding protein 1 isoform 2", "tax_id": 9606, "disease": "cholangiocarcinoma (Disease Ontology:DOID:4947)", "pathway": " (hsa:11169)", "pathway_count": 1, "publication_count": 105, "publication_id_list": "11237011;15302935;17081983;17322306;17525332;17761813;18077418;18452278;18669648;18767875;19413330;19423540;19608861;19651622;19664995;19690332;19805216;20068231;20112406;21406692;22570476;23186163;23301498;23481700;24714562;24715725;25114211;25576301;25772364;25810538;25892735;26082189;26154972;26728094;26758079;26811146;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28510447;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30410026;30429286;30524438;31217245;31844290;32157095;32265295;32357974;32387766;32453425;32488085;32502341;32883234;32897882;32938616;32983136;33141586;33214551;33221821;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34229054;34509645;34694004;34700328;34999279;35051231;35065237;35318648;35474639;35580925;35585232;36241641;37340703;37938771;38654107;39302247;40307207", "class_list": "", "function": "Core replisome component that acts as a replication initiation factor. Binds directly to the CMG complex and functions as a hub to recruit additional proteins to the replication fork., [UniProtKB, PubMed, PubMed, PubMed]; Mcm10 is required for chromatin loading of And-1., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Targeted inhibition of acidic nucleoplasmic DNA-binding protein 1 enhances radiosensitivity of non-small cell lung cancer., [RefSeq, PubMed]; The clinical significance of transcription factor WD repeat and HMG-box DNA binding protein 1 in laryngeal squamous cell carcinoma and its potential molecular mechanism., [RefSeq, PubMed]; The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; WDHD1 facilitates G1 checkpoint abrogation in HPV E7 expressing cells by modulating GCN5. Publication Status: Online-Only, [RefSeq, PubMed]; WDHD1 is essential for the survival of PTEN-inactive triple-negative breast cancer. Erratum:[Cell Death Dis. 2021 Mar 15;12(3):269. doi: 10.1038/s41419-021-03530-0. PMID: 33723224] Publication Status: Online-Only, [RefSeq, PubMed]; ZBTB16 inhibits DNA replication and induces cell cycle arrest by targeting WDHD1 transcription in lung adenocarcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 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": 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": 19, "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": 13, "binding_glycan_count": 0, "secondary_ac_list": "C9JW18;F6W0U7", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding", "go_cellular_component": "GO:0043596 nuclear replication fork;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0006281 DNA repair;GO:0006261 DNA-templated DNA replication", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "O75717-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZI7-1", "uniprot_id": "REN3B_HUMAN", "mass": 57762.0, "length": 483, "protein_name": "Regulator of nonsense transcripts 3B", "gene_name": "UPF3B", "organism": "Human", "refseq_name": "regulator of nonsense transcripts 3B isoform 2", "refseq_ac": "NP_075386", "gene_names_uniprotkb": "UPF3B; RENT3B; UPF3X", "gene_names_refseq": "HUPF3B; MRX62; MRX82; MRXS14; RENT3B; UPF3BP1; UPF3BP2; UPF3BP3; UPF3B; UPF3X; Upf3p-X", "protein_names_uniprotkb": "Regulator of nonsense transcripts 3B; Nonsense mRNA reducing factor 3B; Up-frameshift suppressor 3 homolog B; Up-frameshift suppressor 3 homolog on chromosome X; hUpf3B; hUpf3p-X", "protein_names_refseq": "UPF3 regulator of nonsense transcripts homolog B; nonsense mRNA reducing factor 3B; regulator of nonsense transcripts 3B isoform 2; regulator of nonsense transcripts 3B; up-frameshift suppressor 3 homolog B; up-frameshift suppressor 3 homolog on chromosome X", "tax_id": 9606, "disease": "syndromic X-linked intellectual disability 14 (Disease Ontology:DOID:0060821)", "pathway": " (hsa:65109); (R-HSA-159236); (R-HSA-72163); (R-HSA-72187); (R-HSA-9010553); (R-HSA-975957)", "pathway_count": 6, "publication_count": 232, "publication_id_list": "10.1101/2023.09.13.557529;10228171;10323864;10489353;10668806;10882114;11014198;11073998;11101529;11113196;11163187;11233976;11256625;11259411;11259602;11331269;11532962;11544179;11546873;11546874;11551508;11579093;11739738;11756420;11979277;11991638;12093754;12176931;12411573;12414731;12417715;12477934;12554878;12718880;12832468;12871933;14527413;14625303;14636577;14713954;14742663;14973490;15004547;15034551;15546618;15721257;15998806;16186820;16209946;16284618;16314397;16314458;16452507;16601204;16809785;17000901;17053788;17095540;17190602;17194930;17322306;17332742;17352659;17363904;17606899;17704778;17803942;17893241;17984224;18066079;18212344;18256688;18322460;18364396;18411249;18423201;18423202;18452278;18524595;18593880;18657639;18669648;18957205;18974281;19060897;19103666;19150429;19165350;19359157;19417104;19478851;19503078;19536130;19556969;19664994;19690332;19706539;19836239;19859661;19864460;19909264;20023408;20068231;20112406;20129943;20423332;20479275;20573985;20691628;20817927;20844015;20930030;20980672;21145460;21406692;21419344;21536652;2176635;21947206;21993680;22110043;22207203;22365833;22893130;22928037;22959432;22961380;23085078;23186163;23217742;23222130;23234702;23236153;23299939;23345524;23746841;23826332;23917022;24129315;24196718;24244187;24304693;24448447;24714562;24715725;24737827;24914973;25220460;25242263;25418920;25555158;25576301;2558966;25662211;25836925;26154972;26385511;26420826;26728094;26969736;26992070;27377154;27459055;27600516;27683217;27846572;27920218;28062851;28076346;28502770;28781166;28832583;28904123;29301961;29360106;29361316;29393594;29508533;29632046;2963332;29786170;30315277;30379171;30429286;30705154;30728453;30765414;30975767;31217245;31409651;31530632;31844290;31848261;32157095;32179686;32329775;32357974;32488085;32494006;32502341;32897882;32938616;32983136;33141586;33243851;33298915;33446560;33633747;33912179;33936100;34229054;34301950;34822310;34932366;35051231;35385551;36284347;37217939;3757028;38889220;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9618489;9660949;9671485;9701291;9731529", "class_list": "", "function": "3.4 A resolution crystal structure of a minimal UPF3b-EJC assembly, consisting of the interacting domains of five proteins (UPF3b, MAGO, Y14, eIF4AIII, and Barentsz) together with RNA and adenylyl-imidodiphosphate, [RefSeq, PubMed]; Binds RNPS1 protein, part of the postsplicing complex deposited 5' to exon-exon junctions, [RefSeq, PubMed]; Binds to spliced mRNAs upstream of exon-exon junctions; is part of mRNP complexes that are ready for nuclear export and that participate in nonsense-mediated mRNA decay, [RefSeq, PubMed]; Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF2 stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA upstream of exon-exon junctions. In vitro, stimulates translation; the function is independent of association with UPF2 and components of the EJC core., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Results suggest that UPF3A levels are tightly regulated by a post-transcriptional switch to maintain appropriate levels of NMD substrates in cells containing different levels of UPF3B., [RefSeq, PubMed]; This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome X. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; UPF3B induces nonsense mediated decay in the cytoplasm, [RefSeq, PubMed]; Unveiling the role of UPF3B in hepatocellular carcinoma: Potential therapeutic target., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 16, "reported_glycation": 0, "reported_snv": 11, "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": "D3DWI3;D3DWI4;Q0VAK8;Q9H1J0", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;GO:0045727 positive regulation of translation;GO:0051028 mRNA transport", "synthesized_glycan_count": 0, "hit_score": 23.7, "record_id": "Q9BZI7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49721-1", "uniprot_id": "PSB2_HUMAN", "mass": 22836.0, "length": 201, "protein_name": "Proteasome subunit beta type-2", "gene_name": "PSMB2", "organism": "Human", "refseq_name": "proteasome subunit beta type-2 isoform 1", "refseq_ac": "NP_002785", "gene_names_uniprotkb": "PSMB2", "gene_names_refseq": "HC7-I; PSMB2", "protein_names_uniprotkb": "Proteasome subunit beta type-2; Macropain subunit C7-I; Multicatalytic endopeptidase complex subunit C7-I; Proteasome component C7-I; Proteasome subunit beta-4; beta-4", "protein_names_refseq": "beta-4; macropain subunit C7-I; multicatalytic endopeptidase complex subunit C7-1; multicatalytic endopeptidase complex subunit C7-I; proteasome (prosome, macropain) subunit, beta type, 2; proteasome beta 2 subunit; proteasome component C7-I; proteasome subunit beta 2; proteasome subunit beta type-2 isoform 1; proteasome subunit beta-4; proteasome subunit beta4; proteasome subunit, beta type, 2; testicular tissue protein Li 152", "tax_id": 9606, "disease": "", "pathway": " (hsa:5690); (R-HSA-1169091); (R-HSA-1234176); (R-HSA-1236974); (R-HSA-1236978); (R-HSA-174084); (R-HSA-174113); (R-HSA-174154); (R-HSA-174178); (R-HSA-174184); (R-HSA-180534); (R-HSA-180585); (R-HSA-187577); (R-HSA-195253); (R-HSA-202424); (R-HSA-211733); (R-HSA-2467813); (R-HSA-2871837); (R-HSA-349425); (R-HSA-350562); (R-HSA-382556); (R-HSA-450408); (R-HSA-4608870); (R-HSA-4641257); (R-HSA-4641258); (R-HSA-5358346); (R-HSA-5362768); (R-HSA-5607761); (R-HSA-5607764); (R-HSA-5610780); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5632684); (R-HSA-5658442); (R-HSA-5668541); (R-HSA-5676590); (R-HSA-5678895); (R-HSA-5687128); (R-HSA-5689603); (R-HSA-5689880); (R-HSA-68867); (R-HSA-68949); (R-HSA-69017); (R-HSA-69481); (R-HSA-69601); (R-HSA-75815); (R-HSA-8852276); (R-HSA-8854050); (R-HSA-8939236); (R-HSA-8939902); (R-HSA-8941858); (R-HSA-8948751); (R-HSA-8951664); (R-HSA-9010553); (R-HSA-9020702); (R-HSA-9604323); (R-HSA-9755511); (R-HSA-9762114); (R-HSA-9766229); (R-HSA-9824272); (R-HSA-983168); (R-HSA-9907900); (R-HSA-9912633); (R-HSA-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9958825)", "pathway_count": 69, "publication_count": 1069, "publication_id_list": 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"class_list": "", "function": "Non-catalytic component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex)., [UniProtKB, PubMed, PubMed, PubMed]; The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 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": "D3DPS0;P31145;Q9BWZ9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0034515 proteasome storage granule;GO:0019774 proteasome core complex, beta-subunit complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0045061 thymic T cell selection;GO:0045063 T-helper 1 cell differentiation;GO:0071357 cellular response to type I interferon;GO:0043374 CD8-positive, alpha-beta T cell differentiation;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 107.4, "record_id": "P49721-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N490-1", "uniprot_id": "PNKD_HUMAN", "mass": 42876.0, "length": 385, "protein_name": "Probable thioesterase PNKD", "gene_name": "PNKD", "organism": "Human", "refseq_name": "probable thioesterase PNKD isoform 3 precursor", "refseq_ac": "NP_001070867", "gene_names_uniprotkb": "PNKD; FKSG19; KIAA1184; MR1; PRO5778; TAHCCP2", "gene_names_refseq": "BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1S; MR-1; MR1; PDC; PKND1; PNKD1; PNKD; R1; TAHCCP2", "protein_names_uniprotkb": "Probable thioesterase PNKD; 3.1.2.-; MR-1; Myofibrillogenesis regulator 1; Paroxysmal nonkinesiogenic dyskinesia protein; Trans-activated by hepatitis C virus core protein 2", "protein_names_refseq": "PNKD, MBL domain containing; brain protein 17; myofibrillogenesis regulator 1; probable hydrolase PNKD; probable thioesterase PNKD isoform 3 precursor; probable thioesterase PNKD; trans-activated by hepatitis C virus core protein 2", "tax_id": 9606, "disease": "paroxysmal nonkinesigenic dyskinesia 1 (Disease Ontology:DOID:0090049)", "pathway": " (hsa:25953)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;12975309;15188056;15188498;15262732;15496428;15824259;16632198;16972263;17525332;18691976;19124534;20112406;21487022;24714562;25066297;25576301;28063628;28514659;28832583;28834231;28894297;28904123;29393594;29557506;29632046;30174277;30429286;31844290;32157095;32357974;32488085;32983136;33912179;33968037;34357683;35580925;36215666;38342606", "class_list": "", "function": "A rare heterozygous nonsense mutation (C to T transition) was identified in a Tourette Disorder multiplex family by whole exome sequencing. Tourette or Tic Disorder-affected family members shared a heterozygous nonsense mutation (chr2: 219204814 C/T), which is not present in the unaffected individuals and absent in the background sample, [RefSeq, PubMed]; Myofibrillogenesis Regulator-1 Regulates the Ubiquitin Lysosomal Pathway of Notch3 Intracellular Domain Through E3 Ubiquitin-Protein Ligase Itchy Homolog in the Metastasis of Non-Small Cell Lung Cancer., [RefSeq, PubMed]; Probable thioesterase that may play a role in cellular detoxification processes; it likely acts on a yet-unknown alpha-hydroxythioester substrate. In vitro, it is able to catalyze the hydrolysis of S-D-lactoyl-glutathione to form glutathione and D-lactic acid at very low rate, though this reaction is not physiologically relevant in vivo., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed]; This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K1F2;Q96A48;Q9BU26;Q9NSX4;Q9ULN6;Q9Y4T1", "ec_number_list": "3.1.2.-", "go_molecular_function": "GO:0004416 hydroxyacylglutathione hydrolase activity;GO:0046872 metal ion binding;GO:0016790 thiolester hydrolase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0019243 methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione;GO:0046929 negative regulation of neurotransmitter secretion", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q8N490-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P20618-1", "uniprot_id": "PSB1_HUMAN", "mass": 26489.0, "length": 241, "protein_name": "Proteasome subunit beta type-1", "gene_name": "PSMB1", "organism": "Human", "refseq_name": "proteasome subunit beta type-1", "refseq_ac": "NP_002784", "gene_names_uniprotkb": "PSMB1; PSC5", "gene_names_refseq": "HC5; NEDMHAL; PMSB1; PSC5; PSMB1", "protein_names_uniprotkb": "Proteasome subunit beta type-1; Macropain subunit C5; Multicatalytic endopeptidase complex subunit C5; Proteasome component C5; Proteasome gamma chain; Proteasome subunit beta-6; beta-6", "protein_names_refseq": "beta-6; macropain subunit C5; multicatalytic endopeptidase complex subunit C5; proteasome (prosome, macropain) subunit, beta type, 1; proteasome beta 1 subunit; proteasome component C5; proteasome gamma chain; proteasome subunit HC5; proteasome subunit beta 1; proteasome subunit beta type-1; proteasome subunit beta-6; proteasome subunit beta6; testicular secretory protein Li 45", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); intellectual disability (Disease Ontology:DOID:1059); microcephaly (Disease Ontology:DOID:10907); neurodegenerative disease (Disease Ontology:DOID:1289); neurodevelopmental disorder with microcephaly, hypotonia, and absent language (MONDO:MONDO:0859287)", "pathway": " (hsa:5689); (R-HSA-1169091); (R-HSA-1234176); (R-HSA-1236974); (R-HSA-1236978); (R-HSA-174084); (R-HSA-174113); (R-HSA-174154); (R-HSA-174178); (R-HSA-174184); (R-HSA-180534); (R-HSA-180585); (R-HSA-187577); (R-HSA-195253); (R-HSA-202424); (R-HSA-211733); (R-HSA-2467813); (R-HSA-2871837); (R-HSA-349425); (R-HSA-350562); (R-HSA-382556); (R-HSA-450408); (R-HSA-4608870); (R-HSA-4641257); (R-HSA-4641258); (R-HSA-5358346); (R-HSA-5362768); (R-HSA-5607761); (R-HSA-5607764); (R-HSA-5610780); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5632684); (R-HSA-5658442); (R-HSA-5668541); (R-HSA-5676590); (R-HSA-5678895); (R-HSA-5687128); (R-HSA-5689603); (R-HSA-5689880); (R-HSA-6798695); (R-HSA-68867); (R-HSA-68949); (R-HSA-69017); (R-HSA-69481); (R-HSA-69601); (R-HSA-75815); (R-HSA-8852276); (R-HSA-8854050); (R-HSA-8939236); (R-HSA-8939902); (R-HSA-8941858); (R-HSA-8948751); (R-HSA-8951664); (R-HSA-9010553); (R-HSA-9020702); (R-HSA-9604323); (R-HSA-9755511); (R-HSA-9762114); (R-HSA-9766229); (R-HSA-9824272); (R-HSA-983168); (R-HSA-9907900); (R-HSA-9912633); (R-HSA-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9958825)", "pathway_count": 70, "publication_count": 1083, "publication_id_list": 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"class_list": "", "function": "Non-catalytic component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex)., [UniProtKB, PubMed, PubMed, PubMed]; The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is tightly linked to the TBP (TATA-binding protein) gene in human and in mouse, and is transcribed in the opposite orientation in both species. [provided by RefSeq, Jul 2008]., [RefSeq]; Uroplakin 1a Interacts with Regucalcin and Proteasome Subunit Beta 1., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "B5BU76;Q9BWA8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0034515 proteasome storage granule;GO:0019774 proteasome core complex, beta-subunit complex;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0045061 thymic T cell selection;GO:0045063 T-helper 1 cell differentiation;GO:0071357 cellular response to type I interferon;GO:0043374 CD8-positive, alpha-beta T cell differentiation;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 108.7, "record_id": "P20618-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H2S5-1", "uniprot_id": "RNF39_HUMAN", "mass": 45525.0, "length": 420, "protein_name": "RING finger protein 39", "gene_name": "RNF39", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "RNF39; HZFW", "gene_names_refseq": "", "protein_names_uniprotkb": "RING finger protein 39; 2.3.2.27; Protein HZFw", "protein_names_refseq": "", "tax_id": 9606, "disease": "cholangiocarcinoma (Disease Ontology:DOID:4947)", "pathway": " (hsa:80352)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11130983;25126410;32938616;33674311;33968037;35051231;39255680", "class_list": "", "function": "(Microbial infection) Plays a positive role in human immunodeficiency virus (HIV-1) replication., [UniProtKB, PubMed]; Plays an inhibitory role in anti-RNA viral innate immunity by targeting the adapter DDX3X and promoting its 'Lys-48'-linked polyubiquitination (PubMed:33674311). Alternatively, enhances the cGAS-STING pathway activation by promoting 'Lys-63'-linked ubiquitination of STING1, facilitating the STING1-TBK1 complex formation and STING1 activation (PubMed:39255680)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 4, "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": "A2BEK3;A6NCD6;B0S858;Q5SPM8;Q5SPM9;Q5SPN0;Q5SRJ9;Q5SRK1;Q5SS29;Q9H2S3;Q9H2S4", "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:0070534 protein K63-linked ubiquitination;GO:0039532 negative regulation of cytoplasmic pattern recognition receptor signaling pathway;GO:0141111 positive regulation of cGAS/STING signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9H2S5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43255-1", "uniprot_id": "SIAH2_HUMAN", "mass": 34615.0, "length": 324, "protein_name": "E3 ubiquitin-protein ligase SIAH2", "gene_name": "SIAH2", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase SIAH2", "refseq_ac": "NP_005058", "gene_names_uniprotkb": "SIAH2", "gene_names_refseq": "SIAH2; hSiah2", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase SIAH2; 2.3.2.27; RING-type E3 ubiquitin transferase SIAH2; Seven in absentia homolog 2; Siah-2; hSiah2", "protein_names_refseq": "E3 ubiquitin-protein ligase SIAH2; RING-type E3 ubiquitin transferase SIAH2; seven in absentia homolog 2; siah-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:6478); (R-HSA-373752); (R-HSA-5689880); (R-HSA-977225); (R-HSA-983168)", "pathway_count": 5, "publication_count": 205, "publication_id_list": "10097139;10207103;10319874;10391242;10411933;10444327;10583407;10956649;10982817;11062501;11237011;11278841;11350924;11389839;11401442;11467836;11483518;11566882;11590439;118839;11923872;12154370;12411493;12454989;12646216;1270801;12810624;12917689;12917691;14506261;14567678;14661020;14734113;15053880;15064394;15224091;15224092;15571818;15916963;15962837;16174740;16214042;16509823;16595681;16762451;16799559;16849449;16901786;16954532;16964248;17003045;17174565;17290220;17425515;17443180;17873522;17980597;17981138;18065497;18070888;18172164;1837051;18449172;18467330;18484335;1849145;18632802;18636086;18662542;19011241;19015242;19028597;19043406;19135894;19188362;19224863;19352404;19363159;19398555;19424180;19452197;19489725;19658395;19828817;19838211;19851334;19874575;19874889;19910467;19940261;20096447;20228808;20368735;20501646;20676056;20807650;2118650;21239494;21362556;21571647;21596315;21659512;21849505;2195544;21962518;22029577;22065755;22085928;22128162;22131221;22216260;2261476;22878263;23159851;23186163;23395819;23481700;23486064;23813966;23824326;23825189;24056413;2409350;24260525;24397554;24493797;24833601;24893886;24896179;25197364;25305019;25523424;25578727;26018760;26154972;26375851;26392558;26417681;26668317;26686862;26807092;26811146;26929215;26992070;27846572;27862975;27920218;279930;28218747;28228285;28546513;28832583;28834231;28904123;2900981;29242379;29331515;29393594;29557506;29632711;30315122;3035556;30429286;3053705;30779550;3080684;3094007;3142462;31844290;31848261;31998317;32357974;32983136;33298915;33536006;33592498;33912179;33936100;34932366;35051231;35154166;35580925;36010968;36155803;36284347;3675579;37938771;38842124;38842200;7578059;8033412;8097946;8114934;8159701;8464497;8490014;8870004;9006323;9054935;9334332;9380723;9403064;9668046;9858595;9862427", "class_list": "", "function": "Decreased Expression of Programmed Death Ligand-L1 by Seven in Absentia Homolog 2 in Cholangiocarcinoma Enhances T-Cell-Mediated Antitumor Activity. Erratum:[Front Immunol. 2022 Dec 08;13:1093403. doi: 10.3389/fimmu.2022.1093403. PMID: 36591292] Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:11483518, PubMed:19224863, PubMed:9334332). E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:11483518, PubMed:19224863, PubMed:9334332). Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes (PubMed:11483518, PubMed:19224863, PubMed:9334332). Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription regulation (GPS2, POU2AF1, PML, NCOR1), a cell surface receptor (DCC), an antiapoptotic protein (BAG1), and a protein involved in synaptic vesicle function in neurons (SYP) (PubMed:11483518, PubMed:19224863, PubMed:9334332). Mediates ubiquitination and proteasomal degradation of DYRK2 in response to hypoxia (PubMed:22878263). It is thereby involved in apoptosis, tumor suppression, cell cycle, transcription and signaling processes (PubMed:11483518, PubMed:19224863, PubMed:22878263, PubMed:9334332). Has some overlapping function with SIAH1 (PubMed:11483518, PubMed:19224863, PubMed:9334332). Triggers the ubiquitin-mediated degradation of TRAF2, whereas SIAH1 does not (PubMed:12411493). Promotes monoubiquitination of SNCA (PubMed:19224863). Regulates cellular clock function via ubiquitination of the circadian transcriptional repressors NR1D1 and NR1D2 leading to their proteasomal degradation (PubMed:26392558). Plays an important role in mediating the rhythmic degradation/clearance of NR1D1 and NR1D2 contributing to their circadian profile of protein abundance (PubMed:26392558). Mediates ubiquitination and degradation of EGLN2 and EGLN3 in response to the unfolded protein response (UPR), leading to their degradation and subsequent stabilization of ATF4 (By similarity). Also part of the Wnt signaling pathway in which it mediates the Wnt-induced ubiquitin-mediated proteasomal degradation of AXIN1., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; SIAH2 regulates DNA end resection and replication fork recovery by promoting CtIP ubiquitination., [RefSeq, PubMed]; SIAH2 suppresses c-JUN pathway by promoting the polyubiquitination and degradation of HBx in hepatocellular carcinoma., [RefSeq, PubMed]; SIAH2-Mediated Degradation of ACSL4 Inhibits the Anti-Tumor Activity of CD8+ T Cells in Hepatocellular Carcinoma., [RefSeq, PubMed]; This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in regulating cellular response to hypoxia. [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": 18, "reported_mutagensis": 5, "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": "O43270", "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.-;3.4.19.12;2.3.2.25;2.3.2.36;2.7.11.1", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0061630 ubiquitin protein ligase activity;GO:0031624 ubiquitin conjugating enzyme binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol;GO:0043025 neuronal cell body", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:1990000 amyloid fibril formation;GO:0006915 apoptotic process;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 20.6, "record_id": "O43255-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IWU2-1", "uniprot_id": "LMTK2_HUMAN", "mass": 164900.0, "length": 1503, "protein_name": "Serine/threonine-protein kinase LMTK2", "gene_name": "LMTK2", "organism": "Human", "refseq_name": "serine/threonine-protein kinase LMTK2 precursor", "refseq_ac": "NP_055731", "gene_names_uniprotkb": "LMTK2; AATYK2; BREK; KIAA1079; KPI2; LMR2", "gene_names_refseq": "AATYK2; BREK; KPI-2; KPI2; LMR2; LMTK2; PPP1R100; cprk; hBREK", "protein_names_uniprotkb": "Serine/threonine-protein kinase LMTK2; 2.7.11.1; Apoptosis-associated tyrosine kinase 2; Brain-enriched kinase; CDK5/p35-regulated kinase; CPRK; Kinase/phosphatase/inhibitor 2; Lemur tyrosine kinase 2; Serine/threonine-protein kinase KPI-2; hBREK", "protein_names_refseq": "CDK5/p35-regulated kinase; apoptosis-associated tyrosine kinase 2; brain-enriched kinase; cyclin-dependent kinase 5/p35-regulated kinase; kinase/phosphatase/inhibitor 2; protein phosphatase 1, regulatory subunit 100; serine/threonine-protein kinase KPI-2; serine/threonine-protein kinase LMTK2 precursor; serine/threonine-protein kinase LMTK2", "tax_id": 9606, "disease": "", "pathway": " (hsa:22853)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "10.1101/2023.09.13.557529;12393858;12832520;15005709;16428298;16887929;17081983;17344846;22220831;23114966;23186163;24366607;25576301;27920218;28218747;28904123;29331515;29437277;29557506;30429286;30779550;31154438;31530632;31748522;31844290;31848261;32157095;32350084;32387766;32488085;32938616;33592498;33912179;33968037;33981976;34357683;34509645;34561969;35051231;35251023;35580925;36241641;37271222;39302247", "class_list": "", "function": "BREK, Brain Enriched Kinase, is a new member of the family of protein serine/threonine kinases; plays important roles in NGF-TrkA signalling in the brain [BREK], [RefSeq, PubMed]; Cprk is expressed in a number of tissues but is enriched in brain and muscle; Cprk displays catalytic activity in kinase assays and is itself phosphorylated by cdk5/p35; Cdk5/p35 inhibits cprk activity, [RefSeq, PubMed]; KPI-2 is a kinase with sites to associate with PP1C and Inh2 to form a regulatory complex that is localized to membranes, [RefSeq, PubMed]; Lemur tyrosine kinase 2 has a tumor-inhibition function in human glioblastoma by regulating the RUNX3/Notch pathway., [RefSeq, PubMed]; Neuropathological characterization of Lemur tyrosine kinase 2 (LMTK2) in Alzheimer's disease and neocortical Lewy body disease. Publication Status: Online-Only, [RefSeq, PubMed]; Phosphorylates PPP1C, phosphorylase b and CFTR., [UniProtKB]; Role of the segment KLHY in binding with protein phosphatase 1, [RefSeq, PubMed]; The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail with serine/threonine/tyrosine kinase activity. This protein interacts with several other proteins, such as Inhibitor-2 (Inh2), protein phosphatase-1 (PP1C), p35, and myosin VI. It phosporylates other proteins, and is itself also phosporylated when interacting with cyclin-dependent kinase 5 (cdk5)/p35 complex. This protein involves in nerve growth factor (NGF)-TrkA signalling, and also plays a critical role in endosomal membrane trafficking. Mouse studies suggested an essential role of this protein in spermatogenesis. [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": 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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 53, "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": "A4D272;Q75MG7;Q9UPS3", "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:0004864 protein phosphatase inhibitor activity;GO:0070853 myosin VI binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0030426 growth cone;GO:0043025 neuronal cell body", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0046777 protein autophosphorylation;GO:0045022 early endosome to late endosome transport;GO:0018107 peptidyl-threonine phosphorylation;GO:0001881 receptor recycling", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q8IWU2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P78386-1", "uniprot_id": "KRT85_HUMAN", "mass": 55802.0, "length": 507, "protein_name": "Keratin, type II cuticular Hb5", "gene_name": "KRT85", "organism": "Human", "refseq_name": "keratin, type II cuticular Hb5 isoform 2", "refseq_ac": "NP_001287739", "gene_names_uniprotkb": "KRT85; KRTHB5", "gene_names_refseq": "ECTD4; HB5; Hb-5; K85; KRT85; KRTHB5; hHb5", "protein_names_uniprotkb": "Keratin, type II cuticular Hb5; Hair keratin K2.12; K85; Keratin-85; Type II hair keratin Hb5; Type-II keratin Kb25; Type-II keratin Kb26; hHb5", "protein_names_refseq": "hair keratin K2.12; hard keratin, type II, 5; keratin 85, type II; keratin, hair, basic, 5; keratin, type II cuticular Hb5 isoform 2; keratin, type II cuticular Hb5; type II hair keratin Hb5; type-II keratin Kb25", "tax_id": 9606, "disease": "ectodermal dysplasia 4 (Disease Ontology:DOID:0111658)", "pathway": " (hsa:3891); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 60, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10692104;10771479;11237011;11350120;11380615;11445569;11590230;12902340;15033990;15337775;15373777;15797384;15803139;16061697;16382671;16525032;16639001;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20179351;20409997;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;2414304;25114211;25208914;25926655;26390218;26853435;31273852;32870666;33605551;34019948;35051231;7543090;8824274;8999895;9084137;9395522;9468612;9565599", "class_list": "", "function": "De novo filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks., [RefSeq, PubMed]; Described for the first time KRT85 compound heterozygosity in caucasian patients, leading to pure hair and nail ectodermal dysplasia. Next generation sequencing molecular diagnosis allowed to confirm rapidly the diagnosis and to guide genetic counselling, [RefSeq, PubMed]; Our study confirms linkage of a variant clinical form of hair-nail ectodermal dysplasia to chromosome 12 without any mutation in the coding sequences of the KRTHB5 gene., [RefSeq, PubMed]; Structural component of intermediate filaments in the hair follicle (PubMed:16525032). As a type II hair keratin, participates in the formation of keratin intermediate filament networks by forming obligate heterodimers with type I hair keratins (PubMed:16525032). Expressed at early stages of hair differentiation in matrix cells and later in cuticle-forming cells, where it contributes to the structural integrity and mechanical resilience of the hair shaft (PubMed:16525032)., [UniProtKB, PubMed]; The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. [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": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9NSB1", "ec_number_list": "", "go_molecular_function": "GO:0005198 structural molecule activity;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0045095 keratin filament;GO:0005882 intermediate filament", "go_biological_process": "GO:0031424 keratinization;GO:0008544 epidermis development;GO:0045109 intermediate filament organization", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "P78386-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NSB4-1", "uniprot_id": "KRT82_HUMAN", "mass": 56653.0, "length": 513, "protein_name": "Keratin, type II cuticular Hb2", "gene_name": "KRT82", "organism": "Human", "refseq_name": "keratin, type II cuticular Hb2", "refseq_ac": "NP_149022", "gene_names_uniprotkb": "KRT82; KRTHB2", "gene_names_refseq": "HB2; Hb-2; KRT82; KRTHB2", "protein_names_uniprotkb": "Keratin, type II cuticular Hb2; K82; Keratin-82; Type II hair keratin Hb2; Type-II keratin Kb22; hHb2", "protein_names_refseq": "K82; hard keratin, type II, 2; keratin 82, type II; keratin, hair, basic, 2; keratin, type II cuticular Hb2; type II hair keratin Hb2; type-II keratin Kb22", "tax_id": 9606, "disease": "", "pathway": " (hsa:3888); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 55, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10692104;10771479;11350120;11380615;11445569;11590230;12902340;15033990;15337775;15373777;15797384;15803139;16061697;16382671;16639001;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;2414304;25208914;25926655;26390218;28904123;32938616;34019948;35051231;35145093;41018975;7543090;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "Structural component of intermediate filaments in the hair follicle. As a type II hair keratin, forms obligate heterodimers with type I hair keratins that assemble into keratin intermediate filaments. Expressed specifically in cuticle-forming cells of the hair shaft during the anagen phase, where it contributes to the formation and structural integrity of the hair cuticle., [UniProtKB, PubMed]; The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this keratin appears to be a hair cuticle-specific keratin. [provided by RefSeq, Jul 2008]., [RefSeq]; Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82. 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": 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:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "GO:0031424 keratinization;GO:0045109 intermediate filament organization", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9NSB4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N8E2-1", "uniprot_id": "ZN513_HUMAN", "mass": 57882.0, "length": 541, "protein_name": "Zinc finger protein 513", "gene_name": "ZNF513", "organism": "Human", "refseq_name": "zinc finger protein 513 isoform 2", "refseq_ac": "NP_001188388", "gene_names_uniprotkb": "ZNF513", "gene_names_refseq": "HMFT0656; RP58; ZNF513; Zfp513", "protein_names_uniprotkb": "Zinc finger protein 513", "protein_names_refseq": "zinc finger protein 513 isoform 2", "tax_id": 9606, "disease": "retinitis pigmentosa 58 (Disease Ontology:DOID:0110362)", "pathway": " (hsa:130557)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;15221005;19913121;20628086;20797688;23186163;25576301;25880248;26375851;29242379;29508533;30192525;32157095;32357974;32488085;33981976;37752101", "class_list": "", "function": "Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis. 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]; The protein encoded by this gene is a possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]., [RefSeq]; These results suggest that the ZNF513 p.C339R mutation is responsible for retinitis pigmentosa and that ZNF513 plays a key role in the regulation of photoreceptor-specific genes in retinal development and photoreceptor maintenance., [RefSeq, PubMed]; Transcriptional regulator that plays a role in retinal development and maintenance., [UniProtKB, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 0, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 13, "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": "A8K3S5;B7WP71;Q3ZCU1;Q68CJ1;Q86UZ3;Q8NDL8;Q96ML3", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0007601 visual perception;GO:0060041 retina development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q8N8E2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TAM2-1", "uniprot_id": "TTC8_HUMAN", "mass": 61534.0, "length": 541, "protein_name": "Tetratricopeptide repeat protein 8", "gene_name": "TTC8", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 8 isoform D", "refseq_ac": "NP_001275710", "gene_names_uniprotkb": "TTC8; BBS8", "gene_names_refseq": "BBS8; RP51; TTC8", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 8; Bardet-Biedl syndrome 8 protein; TPR repeat protein 8", "protein_names_refseq": "Bardet-Biedl syndrome type 8; TPR repeat protein 8; tetratricopeptide repeat protein 8 isoform D", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340); Bardet-Biedl syndrome 8 (Disease Ontology:DOID:0110130); retinitis pigmentosa 51 (Disease Ontology:DOID:0110398); Bardet-Biedl syndrome (Disease Ontology:DOID:1935)", "pathway": " (hsa:123016); (R-HSA-5620922)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11252952;14520415;15258860;15314642;16308660;16327777;17574030;19081074;19421068;19575670;20080638;20233871;20451172;20603001;21427764;22072986;22139371;22389062;22500027;23351793;23481700;24296415;24715725;24939912;25443296;25446516;25576301;26992070;28228285;28514659;28761321;28832583;28834231;29242379;29393594;29557506;30484775;30779550;31154438;31844290;31848261;32157095;32161166;32357974;32488085;32897882;32938616;33123756;33298915;33968037;34087483;34171305;34185709;35051231;35580925;36010968;36215666;37217939", "class_list": "", "function": "A homozygous null BBS8 mutation leads to Bardet-Biedl syndrome with randomization of left-right body axis symmetry, a known defect of the nodal cilium, [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 proper BBSome complex assembly and its ciliary localization., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; 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 involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]., [RefSeq]; Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing Bardet-Biedl Syndrome. 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": 2, "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": "A6NFG2;B3KWA5;Q67B97;Q86SY0;Q86TV9;Q86U26;Q8NDH9;Q96DG8", "ec_number_list": "", "go_molecular_function": "GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005929 cilium;GO:0097730 non-motile cilium", "go_biological_process": "GO:0015031 protein transport;GO:0050893 sensory processing;GO:0060271 cilium assembly;GO:0045444 fat cell differentiation;GO:1905515 non-motile cilium assembly", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q8TAM2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UNF1-1", "uniprot_id": "MAGD2_HUMAN", "mass": 64954.0, "length": 606, "protein_name": "Melanoma-associated antigen D2", "gene_name": "MAGED2", "organism": "Human", "refseq_name": "melanoma-associated antigen D2", "refseq_ac": "NP_055414", "gene_names_uniprotkb": "MAGED2; BCG1", "gene_names_refseq": "11B6; BARTS5; BCG-1; BCG1; HCA10; MAGE-D2; MAGED2", "protein_names_uniprotkb": "Melanoma-associated antigen D2; 11B6; BCG-1; Breast cancer-associated gene 1 protein; Hepatocellular carcinoma-associated protein JCL-1; MAGE-D2 antigen", "protein_names_refseq": "MAGE-D2 antigen; breast cancer-associated gene 1 protein; hepatocellular carcinoma-associated protein JCL-1; melanoma antigen family D, 2; melanoma antigen family D2; melanoma-associated antigen D2", "tax_id": 9606, "disease": "Bartter disease type 5 (Disease Ontology:DOID:0110147)", "pathway": " (hsa:10916); (R-HSA-114608)", "pathway_count": 2, "publication_count": 137, "publication_id_list": "10.1038/emboj.2013.79;10463614;10752678;11237011;11856887;1435334;14630798;15162511;15297306;15302935;15465002;15944288;16959974;17081983;17322306;17525332;17924679;18077418;18088087;18669648;18691976;18767875;18991276;19007248;19369195;19413330;19415658;19651622;19664994;20068231;21406692;22223895;22898188;23186163;23481700;23584533;23640497;24366607;24714562;24715725;25418920;25645385;25880248;25892735;26154972;26375851;26728094;26758079;26992070;27120771;27600516;27846572;27920218;28218747;28352266;28510447;28514659;28832583;28834231;28904123;29242379;29317506;29331515;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30379171;30410026;30429286;30620550;30779550;30833945;31154438;31217245;31222486;31291378;31373491;31530632;31844290;31848261;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33123756;33141586;33298915;33392160;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34290406;34509645;34561969;34725712;34932366;35051231;35138101;35254053;35318648;35580925;36010968;36215666;36284347;36359819;37217939;37541260;37686237;37938771;38128647;38238844;38665916;40596516;6457647;8467233", "class_list": "", "function": "Expression pattern and further characterization of human MAGED2 and identification of rodent orthologues, [RefSeq, PubMed]; Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; MAGED2 Depletion Promotes Stress-Induced Autophagy by Impairing the cAMP/PKA Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Maged2 is mainly expressed in tissues of mesodermal origin, [RefSeq, PubMed]; Proteomic Analysis Revealed the Potential Role of MAGE-D2 in the Therapeutic Targeting of Triple-Negative Breast Cancer., [RefSeq, PubMed]; Reciprocal Regulation of MAGED2 and HIF-1alpha Augments Their Expression under Hypoxia: Role of cAMP and PKA Type II. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates the expression, localization to the plasma membrane and function of the sodium chloride cotransporters SLC12A1 and SLC12A3, two key components of salt reabsorption in the distal renal tubule., [UniProtKB, PubMed]; Results identified a cDNA clone, corresponding to MAGE D2 mRNA, from primary human bronchial epithelial cells which exhibits increased expression in vitro after treatment with all-trans retinoic acid., [RefSeq, PubMed]; This gene is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked intellectual disability (XLID). Mutations in this gene cause a form of transient antenatal Bartter's syndrome. This gene may also be involved in several types of cancer, including breast cancer and melanoma. The protein encoded by this gene is progressively recruited from the cytoplasm to the nucleoplasm during the interphase and after nucleolar stress and is thus thought to play a role in cell cycle regulation. Alternative splicing results in multiple transcript variants. [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 20, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A6NMX0;O76058;Q5BJF3;Q8NAL6;Q9H218;Q9P0U9;Q9UM52", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007565 female pregnancy;GO:0070294 renal sodium ion absorption", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "Q9UNF1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UXK2-1", "uniprot_id": "ISLR2_HUMAN", "mass": 78990.0, "length": 745, "protein_name": "Immunoglobulin superfamily containing leucine-rich repeat protein 2", "gene_name": "ISLR2", "organism": "Human", "refseq_name": "immunoglobulin superfamily containing leucine-rich repeat protein 2 precursor", "refseq_ac": "NP_001123608", "gene_names_uniprotkb": "ISLR2; KIAA1465; LINX; PRO4329", "gene_names_refseq": "ISLR2; LINX", "protein_names_uniprotkb": "Immunoglobulin superfamily containing leucine-rich repeat protein 2; Leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein", "protein_names_refseq": "immunoglobulin superfamily containing leucine-rich repeat protein 2 precursor; immunoglobulin superfamily containing leucine-rich repeat protein 2; leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:57611)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;29242379;29557506;30483960;31092671;34357683;35051231", "class_list": "", "function": "Deletion in ISLR2 gene is associated with autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension., [RefSeq, PubMed]; Required for axon extension during neural development., [UniProtKB]", "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": 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": 26, "reported_interactions": 0, "missing_score": 9481, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K352;Q9P263", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0007399 nervous system development;GO:0045773 positive regulation of axon extension", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6UXK2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92794-1", "uniprot_id": "KAT6A_HUMAN", "mass": 225028.0, "length": 2004, "protein_name": "Histone acetyltransferase KAT6A", "gene_name": "KAT6A", "organism": "Human", "refseq_name": "histone acetyltransferase KAT6A isoform 1", "refseq_ac": "NP_006757", "gene_names_uniprotkb": "KAT6A; MOZ; MYST3; RUNXBP2; ZNF220", "gene_names_refseq": "ARTHS; KAT6A; MOZ; MRD32; MYST-3; MYST3; RUNXBP2; ZC2HC6A; ZNF220", "protein_names_uniprotkb": "Histone acetyltransferase KAT6A; 2.3.1.48; MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3; MOZ; MYST-3; Monocytic leukemia zinc finger protein; Runt-related transcription factor-binding protein 2; Zinc finger protein 220", "protein_names_refseq": "K(lysine) acetyltransferase 6A; MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3; MYST histone acetyltransferase (monocytic leukemia) 3; histone acetyltransferase KAT6A isoform 1; histone acetyltransferase KAT6A; histone acetyltransferase MYST3; monocytic leukemia zinc finger protein; runt-related transcription factor binding protein 2; zinc finger protein 220", "tax_id": 9606, "disease": "Arboleda-Tham syndrome (Disease Ontology:DOID:0070062); DiGeorge syndrome (Disease Ontology:DOID:11198); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:7994); (R-HSA-3214847); (R-HSA-6804758)", "pathway_count": 3, "publication_count": 99, "publication_id_list": "10786633;10821277;10824998;11099047;11237011;11313971;11742995;11965546;12676584;12771199;15313887;15657427;16387653;16839880;17081983;17525332;17925393;18381289;18452278;18623064;18669648;18794358;19187765;19413330;19608861;19651622;19690332;20018852;20068231;20228809;20660729;21880731;22713874;23063713;23186163;23431171;24150941;24715725;25576301;25728775;25728777;25892735;26154972;26375851;26992070;28832583;28834231;28904123;29242379;29351928;29393594;29493099;29557506;29769354;30418433;30524438;30620550;30779550;30833945;31154438;31217245;31222486;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33717175;33912179;33968037;34019948;34087483;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36581221;39129034;39505971;39794553;8782817;9427644;9558366;9880483", "class_list": "", "function": "ERalpha status of invasive ductal breast carcinoma as a result of regulatory interactions between lysine deacetylases KAT6A and KAT6B. Publication Status: Online-Only, [RefSeq, PubMed]; Heterozygous truncating mutations in KAT6A, as well as deletions of the same locus, cause a syndrome characterized by intellectual disability, craniosynostosis, cardiac defects, feeding difficulties, and distinct facial features., [RefSeq, PubMed]; Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro) (PubMed:11742995, PubMed:11965546). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity (PubMed:11965546). May act as a transcriptional coactivator for RUNX1 and RUNX2 (PubMed:12771199). Acetylates p53/TP53 at 'Lys-120' and 'Lys-382' and controls its transcriptional activity via association with PML (PubMed:23431171). May play a role in leukemogenic gene transcription (PubMed:39794553)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; KAT6A/YAP/TEAD4 pathway modulates osteoclastogenesis by regulating the RANKL/OPG ratio on the compression side during orthodontic tooth movement. Publication Status: Online-Only, [RefSeq, PubMed]; PHD12 facilitates the localization of MOZ onto the promoter locus of the HOXA9 gene, thereby promoting the H3 acetylation around the promoter region., [RefSeq, PubMed]; Recognition of unmodified histone H3 by the first PHD finger of bromodomain-PHD finger protein 2 provides insights into the regulation of histone acetyltransferases monocytic leukemic zinc-finger protein (MOZ) and MOZ-related factor (MORF)., [RefSeq, PubMed]; The double PHD finger domain of MOZ/MYST3 induces alpha-helical structure of the histone H3 tail to facilitate acetylation and methylation sampling and modification., [RefSeq, PubMed]; These data suggest that the tandem of plant homeodomain 1/2 fingers play a role in MOZ and MORF histone acetyltransferase association with histon H3 regions enriched in acetylated marks., [RefSeq, PubMed]; This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with an autosomal dominant form of cognitive disability. Chromosomal translocations of this gene are associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 19, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 65, "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": "Q76L81", "ec_number_list": "2.3.1.48;2.3.1.-;2.7.11.1;2.3.2.-;3.6.4.-;3.5.1.-;3.5.1.98;2.3.1.57;2.3.1.259;2.3.1.80", "go_molecular_function": "GO:0043997 histone H4K12 acetyltransferase activity;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016607 nuclear speck;GO:0016605 PML body", "go_biological_process": "GO:0050793 regulation of developmental process;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010628 positive regulation of gene expression;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q92794-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92628-1", "uniprot_id": "K0232_HUMAN", "mass": 154789.0, "length": 1395, "protein_name": "Uncharacterized protein KIAA0232", "gene_name": "KIAA0232", "organism": "Human", "refseq_name": "uncharacterized protein KIAA0232", "refseq_ac": "NP_001094060", "gene_names_uniprotkb": "KIAA0232", "gene_names_refseq": "KIAA0232", "protein_names_uniprotkb": "Uncharacterized protein KIAA0232", "protein_names_refseq": "uncharacterized protein KIAA0232", "tax_id": 9606, "disease": "", "pathway": " (hsa:9778)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17081983;20068231;23186163;25880248;25892735;28411811;28904123;29557506;29671580;30429286;30620550;31844290;32157095;32357974;32387766;32938616;32983136;33717175;33912179;33968037;33981976;34087483;34171305;34932366;35051231;35580925;36010968;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": 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": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "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": "A7E2D2", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q92628-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HCY8-1", "uniprot_id": "S10AE_HUMAN", "mass": 11662.0, "length": 104, "protein_name": "Protein S100-A14", "gene_name": "S100A14", "organism": "Human", "refseq_name": "protein S100-A14", "refseq_ac": "NP_065723", "gene_names_uniprotkb": "S100A14; S100A15", "gene_names_refseq": "BCMP84; S100A14; S100A15", "protein_names_uniprotkb": "Protein S100-A14; S100 calcium-binding protein A14; S114", "protein_names_refseq": "S114; breast cancer membrane protein 84; protein S100-A14", "tax_id": 9606, "disease": "", "pathway": " (hsa:57402)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11944983;21559403;22032898;22451655;23197251;25576301;26374642;26375851;26992070;29557506;30397120;33890248;33981976;35023052;35318648;35580925;35953822;36982421;38476086;38665916", "class_list": "", "function": "Circ_0003221 Downregulation Restrains Cervical Cancer Cell Growth, Metastasis and Angiogenesis by Governing the miR-139-3p/S100A14 Pathway., [RefSeq, PubMed]; Construction of immune-related signature and identification of S100A14 determining immune-suppressive microenvironment in pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Induction of Antimicrobial Protein S100A15 Expression by Oral Microbial Pathogens Is Toll-like Receptors-Dependent Activation of c-Jun-N-Terminal Kinase (JNK), p38, and NF-kappaB Pathways. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA CTBP1-AS inhibits TP63-mediated activation of S100A14 during prostate cancer progression., [RefSeq, PubMed]; Modulates P53/TP53 protein levels, and thereby plays a role in the regulation of cell survival and apoptosis. Depending on the context, it can promote cell proliferation or apoptosis. Plays a role in the regulation of cell migration by modulating the levels of MMP2, a matrix protease that is under transcriptional control of P53/TP53. Does not bind calcium., [UniProtKB, PubMed, PubMed, PubMed]; S100A14 inhibits cell growth and epithelial-mesenchymal transition (EMT) in prostate cancer through FAT1-mediated Hippo signaling pathway., [RefSeq, PubMed]; This gene encodes a member of the S100 protein family which contains an EF-hand motif and binds calcium. The gene is located in a cluster of S100 genes on chromosome 1. Levels of the encoded protein have been found to be lower in cancerous tissue and associated with metastasis suggesting a tumor suppressor function (PMID: 19956863, 19351828). [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": "Q5RHT0", "ec_number_list": "", "go_molecular_function": "GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding;GO:0042379 chemokine receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0032496 response to lipopolysaccharide;GO:0090026 positive regulation of monocyte chemotaxis;GO:0006915 apoptotic process;GO:0042742 defense response to bacterium;GO:0055074 calcium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9HCY8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q4VC12-1", "uniprot_id": "MSS51_HUMAN", "mass": 51289.0, "length": 460, "protein_name": "Putative protein MSS51 homolog, mitochondrial", "gene_name": "MSS51", "organism": "Human", "refseq_name": "putative protein MSS51 homolog, mitochondrial", "refseq_ac": "NP_001019764", "gene_names_uniprotkb": "MSS51; ZMYND17", "gene_names_refseq": "MSS51; ZMYND17", "protein_names_uniprotkb": "Putative protein MSS51 homolog, mitochondrial; Zinc finger MYND domain-containing protein 17", "protein_names_refseq": "MSS51 mitochondrial translational activator homolog; putative protein MSS51 homolog, mitochondrial; zinc finger MYND domain-containing protein 17; zinc finger, MYND domain containing 17; zinc finger, MYND-type containing 17", "tax_id": 9606, "disease": "", "pathway": " (hsa:118490)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;16385451;21531385;25576301;29557506;32938616;34565318;35051231;35580925;36010968;38830447", "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]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; YTHDF2 regulates MSS51 expression contributing to mitochondria dysfunction of granulosa cells in polycystic ovarian syndrome patients., [RefSeq, PubMed]; Yeast Translational Activator Mss51p and Human ZMYND17 - Two Proteins with a Common Origin, but Different Functions., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A6NGH6;Q2VP95;Q5F2H5;Q7Z3M9;Q8N8G0", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q4VC12-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43318-1", "uniprot_id": "M3K7_HUMAN", "mass": 67196.0, "length": 606, "protein_name": "Mitogen-activated protein kinase kinase kinase 7", "gene_name": "MAP3K7", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase 7 isoform A", "refseq_ac": "NP_003179", "gene_names_uniprotkb": "MAP3K7; TAK1", "gene_names_refseq": "CSCF; FMD2; MAP3K7; MEKK7; TAK1; TGF1a", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase 7; 2.7.11.25; TGF-beta-activated kinase 1; Transforming growth factor-beta-activated kinase 1", "protein_names_refseq": "TGF-beta activated kinase 1; mitogen-activated protein kinase kinase kinase 7 isoform A; transforming growth factor-beta-activated kinase 1", "tax_id": 9606, "disease": "frontometaphyseal dysplasia (Disease Ontology:DOID:0111785); frontometaphyseal dysplasia 2 (Disease Ontology:DOID:0111787); prostate cancer (Disease Ontology:DOID:10283); benign hypertensive renal disease (Disease Ontology:DOID:11520); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); dilated cardiomyopathy (Disease Ontology:DOID:12930); arteriosclerosis (Disease Ontology:DOID:2349); coronary artery disease (Disease Ontology:DOID:3393); Wolff-Parkinson-White syndrome (Disease Ontology:DOID:384); myocardial infarction (Disease Ontology:DOID:5844); chronic kidney disease (Disease Ontology:DOID:784); cardiospondylocarpofacial syndrome (MONDO:MONDO:0008005)", "pathway": " (hsa:6885); (R-HSA-1169091); (R-HSA-168638); (R-HSA-202424); (R-HSA-2871837); (R-HSA-4086398); (R-HSA-445989); (R-HSA-450302); (R-HSA-450321); (R-HSA-5357956); (R-HSA-5607764); (R-HSA-5689880); (R-HSA-9014325); (R-HSA-9020702); (R-HSA-937042); (R-HSA-937072); (R-HSA-9645460); (R-HSA-9705671); (R-HSA-975163)", "pathway_count": 19, "publication_count": 482, "publication_id_list": "10.1101/2023.09.13.557529;10066435;10075690;10094049;10187770;10224040;10230406;10321728;10329646;10380924;10391246;10391247;10395542;10444327;10488343;10514424;10514433;10588714;10593898;10698680;10702308;10716940;10723127;10777564;10779524;10838074;10854325;10858654;10882101;10918611;10982817;11015615;11030334;11053425;11057907;11087742;11090634;11094434;11104763;11118615;11237011;11262391;11323434;11325957;11358993;11460167;11563835;11566882;11606584;11772397;11884229;11923872;11960013;12015605;12019269;12070292;12086864;12118249;12171911;12242293;12471263;12473183;12473184;12482967;12496252;12514169;12527755;12538665;12556497;12589052;12609980;12660731;12692549;12729560;12759408;12791687;12791997;12796777;12804775;12860405;12874243;12917689;12917691;12975316;14514672;14625308;14633987;14661020;14670075;14695475;14704854;14977528;15053880;15105418;15122200;15125833;15145317;15208624;15327770;15371334;15492226;15494017;15541657;15545263;15590691;15611108;15620648;15647289;15814722;15837794;15845454;15894542;15916963;15917247;16056267;16186825;16214042;16252004;16260493;16260783;16282325;16289117;16301747;16306937;16341139;16356853;16356855;16356856;16603398;16612002;16831874;16845370;16880514;16893890;16901786;16920709;16953224;16964248;16978534;17047224;17072321;17079228;17081983;17135271;17141195;17158449;17290220;17303577;17322306;17363905;17426020;17428801;17443180;17449468;17468049;17496917;17507369;17548359;17548520;17562858;1756723;17675297;17684012;17728323;17873522;17878161;17890055;17948050;17980597;17981138;17997719;18070982;18079694;18088087;18172164;18180283;18212344;1828071;18286207;18299321;1833184;18438411;18452278;18456304;18462684;18462924;18467330;18488142;18617512;18632802;18636086;18669648;18691976;18758450;18772140;19015242;19066035;19112497;19135894;19177143;19188362;19232515;19264966;19284290;19359218;19363159;19369195;19398555;19413330;19424180;19521662;19535145;19536106;19651622;19664994;19664995;19675569;19690332;19838211;19851316;19874889;19903815;19909372;19910467;19934406;19935683;20005846;20038579;20047764;20060931;20068231;20096447;20193029;20228808;20300203;20368735;20385093;20449947;20501646;20538596;20685844;21118996;21239494;21362556;2139180;21406692;2147937;21512573;21525931;21571647;21596315;21659512;21700900;21849505;21903638;21962518;21966355;22029577;22069318;22084099;22085928;22128162;22216260;22265677;22406003;22520462;22590573;22798961;22802624;22941947;23151663;23159851;23186163;23229544;23256519;23301498;23395819;23416699;23472066;23486064;23632248;23646170;23776175;23824326;23825189;23904219;24056413;24074955;24260525;24275569;24356957;24366607;24493797;24736749;24896179;24912525;25197364;25305019;25418920;25557171;25578727;25849436;25880248;26100626;26334375;26389808;26590425;26811146;26992070;27426733;27426734;27466718;27486461;27701768;27846572;28121444;28231796;28397838;2841328;28424289;28507161;28553204;28657654;28714004;28819003;28827540;28904123;28906490;28993672;29291351;29437277;2946959;29493099;29511289;29557506;30059200;30111836;30168902;30315122;30429286;30455202;30620550;30626936;30779550;31154438;31222486;3129195;31492838;31530632;31844290;31848261;31850239;31998317;32157095;32161166;32350084;32353859;32357974;32387766;32428392;32488085;32589897;32726803;32728199;32897882;32953130;32979938;33024073;33052966;33060197;33097660;33110251;33349665;33360543;33372174;33372854;33396605;33440148;33479219;33495715;33514628;33567255;33592498;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33936100;33963333;33968037;33981976;33989516;33990585;34019948;34021074;34054808;34084167;34087483;34110168;34166398;34239064;34290717;34341353;34357683;34375313;34400613;34439781;34452305;34471099;34502139;34561969;34597346;34932366;35051231;35102342;35154160;35251023;35254053;35561310;35580925;35643212;36010968;36032089;36215666;36284347;37051252;37832545;37914735;37938771;37949874;38632238;38665916;38996928;7479848;7479976;7499357;7575604;7578059;7612269;7628694;7809113;7831327;7862124;7957109;8327496;8332913;8387275;8533096;8550590;8599092;8601309;8622669;8638164;8663074;8670417;8837778;8972730;9073455;9079627;9135156;9252186;9315679;9346484;9362451;9371760;9389482;9430229;9430721;9480845;9687533;9721103;9744859;9768359;9859996;9865693;9914500;9990852;9990853", "class_list": "", "function": "Association of XIST/miRNA155/Gab2/TAK1 cascade with the pathogenesis of anti-phospholipid syndrome and its effect on cell adhesion molecules and inflammatory mediators. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway (PubMed:10094049, PubMed:11460167, PubMed:12589052, PubMed:16845370, PubMed:16893890, PubMed:21512573, PubMed:8663074, PubMed:9079627). Plays an important role in the cascades of cellular responses evoked by changes in the environment (PubMed:10094049, PubMed:11460167, PubMed:12589052, PubMed:16845370, PubMed:16893890, PubMed:21512573, PubMed:8663074, PubMed:9079627). Mediates signal transduction of TRAF6, various cytokines including interleukin-1 (IL-1), transforming growth factor-beta (TGFB), TGFB-related factors like BMP2 and BMP4, toll-like receptors (TLR), tumor necrosis factor receptor CD40 and B-cell receptor (BCR) (PubMed:16893890, PubMed:9079627). Once activated, acts as an upstream activator of the MKK/JNK signal transduction cascade and the p38 MAPK signal transduction cascade through the phosphorylation and activation of several MAP kinase kinases like MAP2K1/MEK1, MAP2K3/MKK3, MAP2K6/MKK6 and MAP2K7/MKK7 (PubMed:11460167, PubMed:8663074). These MAP2Ks in turn activate p38 MAPKs and c-jun N-terminal kinases (JNKs); both p38 MAPK and JNK pathways control the transcription factors activator protein-1 (AP-1) (PubMed:11460167, PubMed:12589052, PubMed:8663074). Independently of MAP2Ks and p38 MAPKs, acts as a key activator of NF-kappa-B by promoting activation of the I-kappa-B-kinase (IKK) core complex (PubMed:12589052, PubMed:8663074). Mechanistically, recruited to polyubiquitin chains of RIPK2 and IKBKG/NEMO via TAB2/MAP3K7IP2 and TAB3/MAP3K7IP3, and catalyzes phosphorylation and activation of IKBKB/IKKB component of the IKK complex, leading to NF-kappa-B activation (PubMed:10094049, PubMed:11460167). In osmotic stress signaling, plays a major role in the activation of MAPK8/JNK1, but not that of NF-kappa-B (PubMed:16893890). Promotes TRIM5 capsid-specific restriction activity (PubMed:21512573). Phosphorylates RIPK1 at 'Ser-321' which positively regulates RIPK1 interaction with RIPK3 to promote necroptosis but negatively regulates RIPK1 kinase activity and its interaction with FADD to mediate apoptosis (By similarity). Phosphorylates STING1 in response to cGAMP-activation, promoting association between STEEP1 and STING1 and STING1 translocation to COPII vesicles (PubMed:37832545)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TAK1 inhibition leads to RIPK1-dependent apoptosis in immune-activated cancers. Publication Status: Online-Only, [RefSeq, PubMed]; The deubiquitinase OTUD1 deubiquitinates TIPE2 and plays a protective role in sepsis-induced lung injury by targeting TAK1-mediated MAPK and NF-kappaB signaling., [RefSeq, PubMed]; The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and controls a variety of cell functions including transcription regulation and apoptosis. In response to IL-1, this protein forms a kinase complex including TRAF6, MAP3K7P1/TAB1 and MAP3K7P2/TAB2; this complex is required for the activation of nuclear factor kappa B. This kinase can also activate MAPK8/JNK, MAP2K4/MKK4, and thus plays a role in the cell response to environmental stresses. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]; USP4 promotes the proliferation, migration, and invasion of esophageal squamous cell carcinoma by targeting TAK1. 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": 20, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 12, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RE27;E1P523;O43317;O43319;Q5TDN2;Q5TDN3;Q5TDT7;Q9NTR3;Q9NZ70", "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;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;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;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;2.3.2.31;3.6.-.-;3.6.1.-;3.4.22.-;2.7.1.150", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:1904385 cellular response to angiotensin;GO:0070498 interleukin-1-mediated signaling pathway;GO:0035872 nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway;GO:0006351 DNA-templated transcription;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 48.9, "record_id": "O43318-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14953-1", "uniprot_id": "KI2S5_HUMAN", "mass": 33698.0, "length": 304, "protein_name": "Killer cell immunoglobulin-like receptor 2DS5", "gene_name": "KIR2DS5", "organism": "Human", "refseq_name": "killer cell immunoglobulin-like receptor 2DS5 precursor", "refseq_ac": "NP_055328", "gene_names_uniprotkb": "KIR2DS5; CD158G; NKAT9", "gene_names_refseq": "CD158G; KIR2DS5; NKAT-9; NKAT9", "protein_names_uniprotkb": "Killer cell immunoglobulin-like receptor 2DS5; CD158 antigen-like family member G; NKAT-9; Natural killer-associated transcript 9", "protein_names_refseq": "CD158 antigen-like family member G; killer Ig receptor; killer cell immunoglobulin-like receptor 2DS5 precursor; killer cell immunoglobulin-like receptor 2DS5; killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5; natural killer cell inhibitory receptor; natural killer-associated transcript 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:3810); (R-HSA-2172127)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10049942;10449773;10604985;10940905;11602640;12559621;12668644;12776204;14707061;15265913;15557162;15884055;15940674;16623599;16920917;16933987;17012248;17110943;17202323;17483134;17641029;18624290;18629938;18682925;19858347;20093094;20865034;20890284;24269691;28569259;28685972;29105364;29408295;31899050;36215666;36720995;37864908;8662091;9490415;9625766;9655483", "class_list": "", "function": "Activating natural killer (NK) receptor that recognizes C2 epitopes of HLA-C alleles. Bridging the innate and adaptive immune systems, NK cells express a number of cell surface receptors which either inhibit or stimulate their cytotoxicity (PubMed:18624290, PubMed:18682925, PubMed:28685972). Able to activate NK cells citotoxicity and cytokine production such as IFNG (PubMed:18624290, PubMed:24269691). Receptor functions are attenuated even lost in some alleles, such as KIR2DS5*002 represented in this entry (PubMed:28685972)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Association of KIR2DL5, KIR2DS5, and KIR2DS1 allelic variation and atopic dermatitis. Publication Status: Online-Only, [RefSeq, PubMed]; KIR2DS5 gene may be protective against hypertension., [RefSeq, PubMed]; Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]., [RefSeq]; Positive association of Bx genotype, KIR2L5, KIR2DS5 and full-length KIR2DS4 with the risk of meningioma., [RefSeq, PubMed]; Positive linkage disequilibrium was seen and between KIR3DS1 and KIR2DS5., [RefSeq, PubMed]; Study findings determined the detrimental impact of KIR2DS1, 2DS5, 3DS1, 2DL5 and CxT4 genotype on genetic predisposition to head and neck squamous cell carcinoma in Iranians., [RefSeq, PubMed]; The novel role of activating receptor KIR2DS5 in preeclampsia., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 3, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 0, "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": "A0A0C4ZMZ1", "ec_number_list": "", "go_molecular_function": "GO:0030110 HLA-C specific inhibitory MHC class I receptor activity;GO:0004888 transmembrane signaling receptor activity;GO:0140375 immune receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q14953-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6TDP4-1", "uniprot_id": "KLH17_HUMAN", "mass": 69874.0, "length": 642, "protein_name": "Kelch-like protein 17", "gene_name": "KLHL17", "organism": "Human", "refseq_name": "kelch-like protein 17", "refseq_ac": "NP_938073", "gene_names_uniprotkb": "KLHL17; AF", "gene_names_refseq": "AF; KLHL17", "protein_names_uniprotkb": "Kelch-like protein 17; Actinfilin", "protein_names_refseq": "actinfilin; kelch-like 17; kelch-like protein 17", "tax_id": 9606, "disease": "", "pathway": " (hsa:339451)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;18767875;25892735;28904123;29769354;30379171;31222486;31530632;31844290;32157095;32357974;32488085;32938616;33537174;33592498;33968037;34171305;34932366;35051231;35580925;36010968;36241641;37938771", "class_list": "", "function": "Substrate-recognition component of some cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes. The BCR(KLHL17) complex mediates the ubiquitination and subsequent degradation of GLUR6. May play a role in the actin-based neuronal function (By similarity)., [UniProtKB]; The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [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": 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": "Q5SV94", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003779 actin binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0014069 postsynaptic density;GO:0015629 actin cytoskeleton;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0030036 actin cytoskeleton organization;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q6TDP4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HCM1-1", "uniprot_id": "RESF1_HUMAN", "mass": 194857.0, "length": 1747, "protein_name": "Retroelement silencing factor 1", "gene_name": "RESF1", "organism": "Human", "refseq_name": "retroelement silencing factor 1", "refseq_ac": "NP_060639", "gene_names_uniprotkb": "RESF1; C12orf35; KIAA1551", "gene_names_refseq": "C12orf35; GET; KIAA1551; RESF1; UTA2-1", "protein_names_uniprotkb": "Retroelement silencing factor 1", "protein_names_refseq": "gonad expressed transcript; retroelement silencing factor 1; uncharacterized protein C12orf35", "tax_id": 9606, "disease": "", "pathway": " (hsa:55196)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "11237011;17287340;19651622;19664995;21406692;23079962;23186163;23481700;24275569;24714562;25311806;25418920;25576301;25880248;25892735;26154972;26375851;26929215;26992070;27397612;27600516;27846572;27862975;27893789;27920218;28832583;28904123;29242379;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30429286;30524438;30779550;31844290;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34509645;34932366;35051231;35580925;36010968;36215666;36241641;36284347;37938771;40307207", "class_list": "", "function": "Plays a role in the regulation of imprinted gene expression, regulates repressive epigenetic modifications associated with SETDB1. Required for the recruitment or accumulation of SETDB1 to the endogenous retroviruses (ERVs) and maintenance of repressive chromatin configuration, contributing to a subset of the SETDB1-dependent ERV silencing in embryonic stem 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": 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": 0, "reported_glycation": 0, "reported_snv": 63, "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": "B2RTU5;Q4KN17;Q9NVL6;Q9NWP9", "ec_number_list": "", "go_molecular_function": "GO:0042393 histone binding;GO:1990226 histone methyltransferase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus", "go_biological_process": "GO:0141005 transposable element silencing by heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q9HCM1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43261-1", "uniprot_id": "LEU1_HUMAN", "mass": 8962.0, "length": 78, "protein_name": "Leukemia-associated protein 1", "gene_name": "DLEU1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "DLEU1; LEU1; XTP6", "gene_names_refseq": "", "protein_names_uniprotkb": "Leukemia-associated protein 1; Deleted in lymphocytic leukemia 1; HBV X-transactivated gene 6 protein; HBV XAg-transactivated protein 6", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "11161783;9395242", "class_list": "", "function": "May act as a tumor suppressor., [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": "Q547G6;Q8TE10;Q96QY5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "O43261-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94900-1", "uniprot_id": "TOX_HUMAN", "mass": 57513.0, "length": 526, "protein_name": "Thymocyte selection-associated high mobility group box protein TOX", "gene_name": "TOX", "organism": "Human", "refseq_name": "thymocyte selection-associated high mobility group box protein TOX", "refseq_ac": "NP_055544", "gene_names_uniprotkb": "TOX; KIAA0808", "gene_names_refseq": "TOX1; TOX", "protein_names_uniprotkb": "Thymocyte selection-associated high mobility group box protein TOX; Thymus high mobility group box protein TOX", "protein_names_refseq": "thymocyte selection-associated high mobility group box protein TOX; thymus high mobility group box protein TOX", "tax_id": 9606, "disease": "", "pathway": " (hsa:9760)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "15078895;17529974;17918249;21126536;21248752;26154972;27846572;28657654;29557506;30429286;31207604;31844290;33592498;35051231;35132862;35254053;35318648;35705054;36933041;36969216;37932931;37961948;38087646;38665916;40307207;41535474", "class_list": "", "function": "Evaluation of mRNA Expressions of TOX and NR4As in CD8+ T cells in Acute Leukemia., [RefSeq, PubMed]; Expression of the HMG box protein TOX is sufficient to induce changes in coreceptor gene expression associated with beta-selection, including CD8 gene demethylation, [RefSeq, PubMed]; High TOX expression on CD8[+] T cells in pure red cell aplasia., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; TOX as a new diagnostic marker for T cell large granular lymphocytic leukaemia., [RefSeq, PubMed]; TOX regulates T lymphocytes differentiation and its function in tumor. Review article Publication Status: Online-Only, [RefSeq, PubMed]; TOX, TWIST1, STAT4, and SATB1 protein expressions in early-stage mycosis fungoides., [RefSeq, PubMed]; The protein encoded by this gene contains a HMG box DNA binding domain. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. This protein may function to regulate T-cell development.[provided by RefSeq, Apr 2009]., [RefSeq]; Transcriptional regulator with a major role in neural stem cell commitment and corticogenesis as well as in lymphoid cell development and lymphoid tissue organogenesis (By similarity). Binds to GC-rich DNA sequences in the proximity of transcription start sites and may alter chromatin structure, modifying access of transcription factors to DNA. During cortical development, controls the neural stem cell pool by inhibiting the switch from proliferative to differentiating progenitors. Beyond progenitor cells, promotes neurite outgrowth in newborn neurons migrating to reach the cortical plate. May activate or repress critical genes for neural stem cell fate such as SOX2, EOMES and ROBO2 (By similarity). Plays an essential role in the development of lymphoid tissue-inducer (LTi) cells, a subset necessary for the formation of secondary lymphoid organs: peripheral lymph nodes and Peyer's patches. Acts as a developmental checkpoint and regulates thymocyte positive selection toward T cell lineage commitment. Required for the development of various T cell subsets, including CD4-positive helper T cells, CD8-positive cytotoxic T cells, regulatory T cells and CD1D-dependent natural killer T (NKT) cells. Required for the differentiation of common lymphoid progenitors (CMP) to innate lymphoid cells (ILC) (By similarity). May regulate the NOTCH-mediated gene program, promoting differentiation of the ILC lineage. Required at the progenitor phase of NK cell development in the bone marrow to specify NK cell lineage commitment (By similarity) (PubMed:21126536). Upon chronic antigen stimulation, diverts T cell development by promoting the generation of exhaustive T cells, while suppressing effector and memory T cell programming. May regulate the expression of genes encoding inhibitory receptors such as PDCD1 and induce the exhaustion program, to prevent the overstimulation of T cells and activation-induced cell death (By similarity)., [UniProtKB, 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": 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": 28, "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": "Q96AV5", "ec_number_list": "", "go_molecular_function": "GO:0031490 chromatin DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0001779 natural killer cell differentiation;GO:0002362 CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment;GO:1902232 regulation of positive thymic T cell selection;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "O94900-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P0S9-1", "uniprot_id": "TM14C_HUMAN", "mass": 11565.0, "length": 112, "protein_name": "Transmembrane protein 14C", "gene_name": "TMEM14C", "organism": "Human", "refseq_name": "transmembrane protein 14C", "refseq_ac": "NP_001158730", "gene_names_uniprotkb": "TMEM14C; C6orf53; HSPC194", "gene_names_refseq": "C6orf53; HSPC194; MSTP073; NET26; TMEM14C; bA421M1.6", "protein_names_uniprotkb": "Transmembrane protein 14C", "protein_names_refseq": "transmembrane protein 14C", "tax_id": 9606, "disease": "", "pathway": " (hsa:51522)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "19656490;20877624;22609626;26992070;28510447;28904123;29242379;29557506;29632711;30315122;30410026;30429286;30524438;30573663;31217245;31611695;31844290;31848261;32157095;32938616;33043033;33592498;33912179;33968037;34171305;34172893;34357683;34861039;34932366;35051231;35154160;35318648;36284347", "class_list": "", "function": "Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Phase I First-in-Human Dose Escalation Study of the oral SF3B1 modulator H3B-8800 in myeloid neoplasms., [RefSeq, PubMed]; Required for functional heme biosynthesis in erythroid cells., [RefSeq, PubMed]; Required for normal heme biosynthesis., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q5T4I6", "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:0006783 heme biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9P0S9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N831-1", "uniprot_id": "TSYL6_HUMAN", "mass": 45874.0, "length": 410, "protein_name": "Testis-specific Y-encoded-like protein 6", "gene_name": "TSPYL6", "organism": "Human", "refseq_name": "testis-specific Y-encoded-like protein 6", "refseq_ac": "NP_001003937", "gene_names_uniprotkb": "TSPYL6", "gene_names_refseq": "TSPYL6", "protein_names_uniprotkb": "Testis-specific Y-encoded-like protein 6; TSPY-like protein 6", "protein_names_refseq": "TSPY-like protein 6; testicular tissue protein Li 211; testis-specific Y-encoded-like protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:388951)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "23186163;27458158;27686078;27846572;33392160;36284347", "class_list": "", "function": "Findings indicate a significant association between single nucleotide polymorphisms (SNPs) in the testis-specific Y-encoded-like protein 6 (TSPYL6) gene and breast cancer (BC) risk in a Han Chinese population., [RefSeq, PubMed]; Genetic polymorphisms of ACYP2 and TSPYL6 are associated with increased risk of developing 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6NUJ3", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006334 nucleosome assembly", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8N831-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5W3-1", "uniprot_id": "KLF2_HUMAN", "mass": 37420.0, "length": 355, "protein_name": "Krueppel-like factor 2", "gene_name": "KLF2", "organism": "Human", "refseq_name": "Krueppel-like factor 2", "refseq_ac": "NP_057354", "gene_names_uniprotkb": "KLF2; LKLF", "gene_names_refseq": "KLF2; LKLF", "protein_names_uniprotkb": "Krueppel-like factor 2; Lung krueppel-like factor", "protein_names_refseq": "Krueppel-like factor 2; Kruppel like factor 2; Kruppel-like factor 2 (lung); Kruppel-like factor LKLF; lung Kruppel-like factor; lung Kruppel-like zinc finger transcription factor; lung krueppel-like factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:10365)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "10217429;10458913;11237011;11375995;20166139;21063504;27862975;28167758;28832583;29242379;29493099;29557506;30379171;30429286;31154438;31375868;31844290;31848261;32897882;33091337;33592498;33968037;33981976;35051231;35580925;36010968;37610103;37642902;38099436;38373841;38741032", "class_list": "", "function": "HEG1 Protects Against Atherosclerosis by Regulating Stable Flow-Induced KLF2/4 Expression in Endothelial Cells., [RefSeq, PubMed]; KLF2 Regulates Neural Differentiation of Dental Pulp-derived Stem Cells by Modulating Autophagy and Mitophagy., [RefSeq, PubMed]; KLF2 enhancer variant rs4808485 increases lupus risk by modulating inflammasome machinery and cellular homoeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; KLF2 transcription suppresses endometrial cancer cell proliferation, invasion, and migration through the inhibition of NPM1., [RefSeq, PubMed]; N6-methyladenosine modification of KLF2 may contribute to endothelial-to-mesenchymal transition in pulmonary hypertension. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is expressed early in mammalian development and is found in many different cell types. The protein acts to bind the CACCC box found in the promoter of target genes to activate their transcription. It plays a role in many processes during development and disease including adipogenesis, embryonic erythropoiesis, epithelial integrity, inflammation and t-cell viability. [provided by RefSeq, Mar 2017]., [RefSeq]; Transcription factor that binds to the CACCC box in the promoter of target genes such as HBB/beta globin or NOV and activates their transcription (PubMed:21063504). Might be involved in transcriptional regulation by modulating the binding of the RARA nuclear receptor to RARE DNA elements (PubMed:28167758)., [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": 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": "Q6IPC4;Q9UJS5;Q9UKR6", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;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_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0097533 cellular stress response to acid chemical;GO:1990859 cellular response to endothelin;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9Y5W3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UPX6-1", "uniprot_id": "MNAR1_HUMAN", "mass": 102993.0, "length": 916, "protein_name": "Major intrinsically disordered Notch2-binding receptor 1", "gene_name": "MINAR1", "organism": "Human", "refseq_name": "major intrinsically disordered Notch2-binding receptor 1", "refseq_ac": "NP_056021", "gene_names_uniprotkb": "MINAR1; KIAA1024; UBTOR", "gene_names_refseq": "KIAA1024; MINAR1; UBTOR", "protein_names_uniprotkb": "Major intrinsically disordered Notch2-binding receptor 1; Membrane integral NOTCH2-associated receptor 1; Ubiquitination and mTOR signaling protein", "protein_names_refseq": "major intrinsically disordered Notch2-associated receptor 1; major intrinsically disordered Notch2-binding receptor 1; ubiquitination and mTOR signaling protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:23251)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;29329397;29557506;30080879;31530632;33728681;34171305;35051231", "class_list": "", "function": "Intrinsically disordered protein which may negatively regulate mTOR signaling pathway by stabilizing the mTOR complex component DEPTOR (PubMed:30080879). Negatively regulates angiogenesis (PubMed:29329397). Negatively regulates cell growth (PubMed:29329397, PubMed:30080879). Negatively regulates neurite outgrowth in hippocampal neurons (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; MINAR1 physically interacts with Notch2 and its binding to Notch2 increases its stability and function. While MINAR1 is highly expressed in the normal human breast, its expression is significantly downregulated in advanced human breast cancer and its re-expression in breast cancer cells inhibited tumor growth., [RefSeq, PubMed]; Novel functional variants in the Notch pathway and survival of Chinese colorectal cancer., [RefSeq, PubMed]; Ubtor inhibits mTOR signaling by stabilizing the mTOR complex component DEPTOR. Inhibiting Ubtor function promotes cell growth in neurons and cancer cells. Increasing Ubtor function reduces cancer cell growth. 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": 51, "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": "A7MD43", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0001525 angiogenesis;GO:0008285 negative regulation of cell population proliferation;GO:0010977 negative regulation of neuron projection development;GO:0030308 negative regulation of cell growth;GO:0016525 negative regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9UPX6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IWB1-1", "uniprot_id": "IPRI_HUMAN", "mass": 62060.0, "length": 547, "protein_name": "Inositol 1,4,5-trisphosphate receptor-interacting protein", "gene_name": "ITPRIP", "organism": "Human", "refseq_name": "inositol 1,4,5-trisphosphate receptor-interacting protein precursor", "refseq_ac": "NP_001258941", "gene_names_uniprotkb": "ITPRIP; DANGER; KIAA1754", "gene_names_refseq": "D1A; DANGER; ITPRIP; KIAA1754; bA127L20.2; bA127L20", "protein_names_uniprotkb": "Inositol 1,4,5-trisphosphate receptor-interacting protein; Protein DANGER", "protein_names_refseq": "DANGER family member 1A; inositol 1,4,5-triphosphate receptor-interacting protein; inositol 1,4,5-trisphosphate receptor-interacting protein precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:85450)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16990268;18669648;24190977;24714562;25576301;26154972;26769850;27600516;27862975;28228285;28514659;29242379;29393594;29493099;29557506;29632711;29786170;29899107;30315122;30429286;30484775;31844290;32938616;32983136;33717175;33968037;34087483;34111521;35051231;35254053;36010968;36241641;37074911", "class_list": "", "function": "DANGER appears to allosterically modulate the sensitivity of IP(3) RtoCa(2+) inhibition, which likely alters IP(3)R-mediated Ca(2+) dynamics in cells where DANGER and IP(3)R are co-expressed, [RefSeq, PubMed]; Enhances Ca(2+)-mediated inhibition of inositol 1,4,5-triphosphate receptor (ITPR) Ca(2+) release., [UniProtKB, PubMed]; High DANGER expression is involved in high glucose-induced radioresistance through inhibiting DAPK-mediated anoikis in non-small cell lung cancer., [RefSeq, PubMed]; ITPRIP promotes glioma progression by linking MYL9 to DAPK1 inhibition., [RefSeq, PubMed]; The suggested model of how long noncoding RNAs (lncI) TPRIP-1 orchestrates signal transduction for IFN production illustrates the essential role of lncRNAs in virus elimination. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a membrane-associated protein that binds the inositol 1,4,5-trisphosphate receptor (ITPR). The encoded protein enhances the sensitivity of ITPR to intracellular calcium signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "D3DRA5;Q5JU17;Q96MS8;Q9C0A9", "ec_number_list": "", "go_molecular_function": "GO:0004860 protein kinase inhibitor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005640 nuclear outer membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q8IWB1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61225-1", "uniprot_id": "RAP2B_HUMAN", "mass": 20504.0, "length": 183, "protein_name": "Ras-related protein Rap-2b", "gene_name": "RAP2B", "organism": "Human", "refseq_name": "ras-related protein Rap-2b", "refseq_ac": "NP_002877", "gene_names_uniprotkb": "RAP2B", "gene_names_refseq": "RAP2B", "protein_names_uniprotkb": "Ras-related protein Rap-2b; 3.6.5.2", "protein_names_refseq": "ras-related protein Rap-2b; small GTP binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:5912); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "11877431;12444546;15143162;16540189;17509819;20068231;2115998;2118648;23481700;23650620;27452731;28228285;28904123;29242379;29314611;29557506;29632711;29786170;30315122;31530632;31844290;31848261;32157095;32161166;32387766;32938616;32983136;33023331;33592498;33912179;33968037;34087483;34357683;34725712;35051231;35580925;36241641;36444911;36958293;39277583;8424780;8692836", "class_list": "", "function": "Hsa_circ_0008035 Knockdown Inhibits Bladder Cancer Progression through miR-1184/RAP2B Axis., [RefSeq, PubMed]; Inhibiting S-palmitoylation arrests metastasis by relocating Rap2b from plasma membrane in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Long non-coding RNA CCAT1 promotes non-small cell lung cancer progression by regulating the miR-216a-5p/RAP2B axis., [RefSeq, PubMed]; MicroRNA-708 suppresses the proliferation, migration, and invasion of human retinoblastoma cells by targeting RAP2B, a member of the RAS oncogene family., [RefSeq, PubMed]; Small GTP-binding protein which cycles between a GDP-bound inactive and a GTP-bound active form. Involved in EGFR and CHRM3 signaling pathways through stimulation of PLCE1. May play a role in cytoskeletal rearrangements and regulate cell spreading through activation of the effector TNIK. May regulate membrane vesiculation in red blood cells., [UniProtKB, PubMed, PubMed, PubMed]; This intronless gene belongs to a family of RAS-related genes. The proteins encoded by these genes share approximately 50% amino acid identity with the classical RAS proteins and have numerous structural features in common. The most striking difference between the RAP and RAS proteins resides in their 61st amino acid: glutamine in RAS is replaced by threonine in RAP proteins. Evidence suggests that this protein may be polyisoprenylated and palmitoylated. [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": 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": "P17964;Q96EG5;Q9CXG0", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.4.24.81;6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;2.3.1.51;1.14.19.17;5.2.1.-;3.2.1.20;3.6.1.5;2.3.1.20;2.3.1.76;2.7.11.1;3.4.21.73;1.6.3.-;3.1.3.48;1.14.14.18;3.6.1.-;1.2.1.5;1.2.1.28;1.2.1.7;1.2.1.48;3.6.5.4;3.4.24.-;7.6.2.1;3.2.2.6;1.1.1.-;3.1.4.4;2.3.2.27;2.3.1.78;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:0019904 protein domain specific binding;GO:0019003 GDP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0016020 membrane;GO:0035579 specific granule membrane", "go_biological_process": "GO:0032486 Rap protein signal transduction;GO:0007165 signal transduction;GO:0030336 negative regulation of cell migration;GO:0030168 platelet activation;GO:0070527 platelet aggregation", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P61225-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2W1-1", "uniprot_id": "TR150_HUMAN", "mass": 108666.0, "length": 955, "protein_name": "Thyroid hormone receptor-associated protein 3", "gene_name": "THRAP3", "organism": "Human", "refseq_name": "thyroid hormone receptor-associated protein 3 isoform 1", "refseq_ac": "NP_001308400", "gene_names_uniprotkb": "THRAP3; BCLAF2; TRAP150", "gene_names_refseq": "BCLAF2; THRAP3; TRAP150", "protein_names_uniprotkb": "Thyroid hormone receptor-associated protein 3; BCLAF1 and THRAP3 family member 2; Thyroid hormone receptor-associated protein complex 150 kDa component; Trap150", "protein_names_refseq": "BCLAF1 and THRAP3 family member 2; TR-associated protein, 150-kDa; thyroid hormone receptor-associated protein 3 isoform 1; thyroid hormone receptor-associated protein complex 150 kDa component; thyroid hormone receptor-associated protein, 150 kDa subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:9967); (R-HSA-1989781); (R-HSA-381340)", "pathway_count": 3, "publication_count": 176, "publication_id_list": "10075656;10198638;10425206;10777541;11095972;11237011;11267664;11872672;12118000;12177166;12213831;12505311;12582161;12829629;14654843;15067378;15130092;15144186;15273253;15302935;15635043;15850785;15919796;16380219;16565220;16964243;16972786;17011499;17081983;17095540;17287340;17322306;17525332;17924679;17980149;18212344;18220336;18318008;18452278;18491316;18540824;18669648;18691976;18719978;18767875;18794151;18848529;18931025;19007248;19043829;19088433;19115207;19172745;19367720;19413330;19415658;19608861;19651622;19664994;19664995;19690332;19691289;19710929;19934321;20058876;20068230;20068231;20101261;20110263;20123736;20166139;20230923;20932480;21406692;22424773;23186163;23239344;23481700;23525231;24043798;24055347;24100041;24129315;24196956;24275569;24366607;24714562;24715725;25114211;25218447;25755297;25772364;26154972;26375851;26728094;26841317;26992070;27846572;27869121;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30429286;30484775;31154438;31217245;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32350084;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33465208;33592498;33717175;33912179;33968037;34019948;34229054;34697388;35051231;35230719;35254053;35561310;35580925;36284347;36580660;37217939;37524868;37938771;38665916;40596516;40914422;7685352;7892212;8325954;8643605;8647822;8706692;8770873;8970730;9012850;9065481;9454824;9748239;9836620", "class_list": "", "function": "Involved in pre-mRNA splicing. Remains associated with spliced mRNA after splicing which probably involves interactions with the exon junction complex (EJC). Can trigger mRNA decay which seems to be independent of nonsense-mediated decay involving premature stop codons (PTC) recognition. May be involved in nuclear mRNA decay. Involved in regulation of signal-induced alternative splicing. During splicing of PTPRC/CD45 is proposed to sequester phosphorylated SFPQ from PTPRC/CD45 pre-mRNA in resting T-cells. Involved in cyclin-D1/CCND1 mRNA stability probably by acting as component of the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. Involved in response to DNA damage. Is excluced from DNA damage sites in a manner that parallels transcription inhibition; the function may involve the SNARP complex. Initially thought to play a role in transcriptional coactivation through its association with the TRAP complex; however, it is not regarded as a stable Mediator complex subunit. Cooperatively with HELZ2, enhances the transcriptional activation mediated by PPARG, maybe through the stabilization of the PPARG binding to DNA in presence of ligand. May play a role in the terminal stage of adipocyte differentiation. Plays a role in the positive regulation of the circadian clock. Acts as a coactivator of the CLOCK-BMAL1 heterodimer and promotes its transcriptional activator activity and binding to circadian target genes (PubMed:24043798)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Thrap3 promotes R-loop resolution via interaction with methylated DDX5., [RefSeq, PubMed]; Thrap3 promotes nonalcoholic fatty liver disease by suppressing AMPK-mediated autophagy., [RefSeq, PubMed]; Thrap3 promotes osteogenesis by inhibiting the degradation of Runx2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 73, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 33, "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": "D3DPS5;Q5VTK6", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0051219 phosphoprotein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0070062 extracellular exosome;GO:0016592 mediator complex", "go_biological_process": "GO:0048026 positive regulation of mRNA splicing, via spliceosome;GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0048255 mRNA stabilization", "synthesized_glycan_count": 0, "hit_score": 18.6, "record_id": "Q9Y2W1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15205-1", "uniprot_id": "UBD_HUMAN", "mass": 18473.0, "length": 165, "protein_name": "Ubiquitin D", "gene_name": "UBD", "organism": "Human", "refseq_name": "ubiquitin D", "refseq_ac": "NP_006389", "gene_names_uniprotkb": "UBD; FAT10", "gene_names_refseq": "FAT10; UBD-3; UBD", "protein_names_uniprotkb": "Ubiquitin D; Diubiquitin; Ubiquitin-like protein FAT10", "protein_names_refseq": "HLA-F adjacent transcript 10; diubiquitin; ubiquitin D; ubiquitin-like protein FAT10", "tax_id": 9606, "disease": "metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:10537); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 156, "publication_id_list": "10200259;10535940;10597293;10811609;10878807;10973499;11069780;11259415;11292861;11292862;11454738;11466336;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12730673;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;15831455;16171779;16401342;16495226;16495380;16501612;16547496;16647857;16707496;16790436;16943200;16959044;17081101;17132228;17183367;17220875;17332328;17497243;17785452;17889673;18093314;18206966;18446792;18574467;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19033385;19166848;19250909;19321346;19437562;19617556;19726511;19748355;19959714;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22645359;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24714562;24793695;24793696;25314029;25349211;25355947;25422469;25531226;25645385;26344709;26460955;26632597;26728094;26906416;26992070;27030794;27222660;27397612;27565346;27869121;28063628;28115426;28228285;28446606;29153394;29393594;29557506;29632046;29786170;29789417;30315122;30610225;31092671;31844290;32005965;32157095;32284348;32938616;32983136;33444648;33968037;35051231;35580925;35970836;36284347;37926201;37938771;38275102;38565741;38824477;9368598;9790970;9887101;9891082", "class_list": "", "function": "Cytokines-activated nuclear IKKalpha-FAT10 pathway induces breast cancer tamoxifen-resistance., [RefSeq, PubMed]; FAT10 induces immune suppression by upregulating PD-L1 expression in hepatocellular carcinoma., [RefSeq, PubMed]; The ubiquitin-like modifier FAT10 is induced in MASLD and impairs the lipid-regulatory activity of PPARalpha., [RefSeq, PubMed]; This gene encodes a protein which contains two ubiquitin-like domains and appears to have similar function to ubiquitin. Through covalent attachment, the encoded protein targets other proteins for 26S proteasome degradation. This protein has been implicated to function in many cellular processes, including caspase-dependent apoptosis, formation of aggresomes, mitotic regulation, and dendritic cell maturation. Upregulation of this gene may promote inflammation in chronic kidney disease and has been observed in many cancer types. [provided by RefSeq, Aug 2017]., [RefSeq]; UBDP1 pseudogene and UBD network competitively bind miR-6072 to promote glioma progression., [RefSeq, PubMed]; Ubiquitin-like protein modifier which can be covalently attached to target proteins and subsequently leads to their degradation by the 26S proteasome, in a NUB1-dependent manner (PubMed:15831455, PubMed:16707496, PubMed:19166848). Conjugation to the target protein is activated by UBA6 via adenylation of its C-terminal glycine (PubMed:17889673, PubMed:35970836). Promotes the expression of the proteasome subunit beta type-9 (PSMB9/LMP2). Regulates TNF-induced and LPS-mediated activation of the central mediator of innate immunity NF-kappa-B by promoting TNF-mediated proteasomal degradation of ubiquitinated-I-kappa-B-alpha (PubMed:19959714). Required for TNF-induced p65 nuclear translocation in renal tubular epithelial cells (RTECs). May be involved in dendritic cell (DC) maturation, the process by which immature dendritic cells differentiate into fully competent antigen-presenting cells that initiate T-cell responses (PubMed:19028597). Mediates mitotic non-disjunction and chromosome instability, in long-term in vitro culture and cancers, by abbreviating mitotic phase and impairing the kinetochore localization of MAD2L1 during the prometaphase stage of the cell cycle (PubMed:16495226). May be involved in the formation of aggresomes when proteasome is saturated or impaired (PubMed:19033385). Mediates apoptosis in a caspase-dependent manner, especially in renal epithelium and tubular cells during renal diseases such as polycystic kidney disease and Human immunodeficiency virus (HIV)-associated nephropathy (HIVAN) (PubMed:16495380)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 6, "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": "B0UZT6;Q5STL2;Q5SUK2;Q96EC7", "ec_number_list": "", "go_molecular_function": "GO:0070628 proteasome binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016235 aggresome", "go_biological_process": "GO:0006508 proteolysis;GO:0034612 response to tumor necrosis factor;GO:0043065 positive regulation of apoptotic process;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 15.7, "record_id": "O15205-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969F8-1", "uniprot_id": "KISSR_HUMAN", "mass": 42586.0, "length": 398, "protein_name": "KiSS-1 receptor", "gene_name": "KISS1R", "organism": "Human", "refseq_name": "kiSS-1 receptor", "refseq_ac": "NP_115940", "gene_names_uniprotkb": "KISS1R; AXOR12; GPR54", "gene_names_refseq": "AXOR12; CPPB1; GPR54; HH8; HOT7T175; KISS-1R; KISS1R", "protein_names_uniprotkb": "KiSS-1 receptor; G protein-coupled receptor 54; G protein-coupled receptor OT7T175; Hypogonadotropin-1; KiSS-1R; Kisspeptins receptor; Metastin receptor; hOT7T175", "protein_names_refseq": "G protein-coupled receptor 54; G-protein coupled receptor OT7T175; hypogonadotropin-1; kiSS-1 receptor; kisspeptins receptor; metastin receptor", "tax_id": 9606, "disease": "hypogonadotropic hypogonadism 8 with or without anosmia (Disease Ontology:DOID:0090074); central precocious puberty 1 (Disease Ontology:DOID:0112310); breast cancer (Disease Ontology:DOID:1612); hypogonadism (Disease Ontology:DOID:1924); transitional cell carcinoma (Disease Ontology:DOID:2671); papillary carcinoma (Disease Ontology:DOID:3113)", "pathway": " (hsa:84634); (R-HSA-375276); (R-HSA-416476)", "pathway_count": 3, "publication_count": 146, "publication_id_list": "10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;11015615;11237011;11322507;11385580;11387329;11414709;11457843;11527393;11562423;11683476;11742120;11753430;11773063;12120503;12414911;12427552;12540846;12719537;1280419;12944565;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15020672;15139756;15519892;15539556;15596153;15598687;1567413;15947423;15951850;16182515;16268778;16339447;1655761;16754659;16923326;1710450;1710578;17164310;1719979;1722333;18127230;18272894;18434541;1847994;18515384;18577758;18772143;18936096;1905813;23446738;23643382;23690594;24906252;25077900;25147978;25576301;25892735;2649896;27496565;2841328;28832583;29769354;30429286;3086311;3202875;3366244;34932366;35051231;3525564;38346942;38512807;3856870;38878622;38935498;38976640;39151001;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8664309;8666380;8702752;873923;8823230;9171878;9305846;9521323;9530155;9593744;9607765;9685625;9722565;9770463;9792798;9832121;9851594", "class_list": "", "function": "Kisspeptin signalling and its correlation with placental ultrastructure and clinical outcomes in pregnant South African women with obesity and gestational diabetes., [RefSeq, PubMed]; Kisspeptin/KISS1R Signaling Modulates Human Airway Smooth Muscle Cell Migration., [RefSeq, PubMed]; Receptor for kisspeptins (kisspeptin-10, kisspeptin-13, kisspeptin-14 and metastin/kisspeptin-54) (PubMed:11457843, PubMed:11527393, PubMed:15020672, PubMed:15596153). The hypothalamic KISS1/KISS1R signaling system plays a central role in the regulation of the hypothalamic-pituitary-gonadal reproductive axis by modulating the secretion of gonadotropin-releasing hormone (GnRH) from GnRH neurons (PubMed:12944565, PubMed:14573733, PubMed:15598687, PubMed:17164310, PubMed:18272894). In these neurons, kisspeptin binding to its receptor activates G(q)-dependent signaling, leading to phospholipase C (PLC) activation, and hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) (PubMed:14573733, PubMed:15598687, PubMed:39151001). The subsequent rise in intracellular calcium levels results in the inhibition of inward rectifier potassium channels and activation of TRPC-like cation channels, leading to GnRH neurons depolarization and stimulation (By similarity). In addition to this pathway, kisspeptin also triggers G(q)-independent signaling via beta-arrestin, leading to MAPK cascade activation and ERK1/ERK2 phosphorylation (PubMed:25147978). Furthermore, activation of KISS1R by kisspeptin-10 recruits phosphatase DUSP18 and SRC to the KISS1R C-terminus through a G(q)-dependent signaling pathway, leading to DUSP18-mediated dephosphorylation of SRC (PubMed:38346942). In bone tissue, this results in down-regulation of osteoclast differentiation and activity, and consequently suppression of bone resorption (By similarity). KISS1R is also involved in the regulation of other processes, including cell proliferation and cell migration (PubMed:11457843, PubMed:11527393, PubMed:15020672, PubMed:15596153, PubMed:38512807)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Structural basis for hormone recognition and distinctive Gq protein coupling by the kisspeptin receptor., [RefSeq, PubMed]; The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008]., [RefSeq]; The role of placental kisspeptin in trophoblast invasion and migration: an assessment in Kiss1r knockout mice, BeWo cell lines and human term placenta., [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": 18, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A5D8U2;B2RTV1;Q96QG0", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0004930 G protein-coupled receptor activity;GO:0008188 neuropeptide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0045671 negative regulation of osteoclast differentiation;GO:0045779 negative regulation of bone resorption", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q969F8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UMS5-1", "uniprot_id": "PHTF1_HUMAN", "mass": 87252.0, "length": 762, "protein_name": "Protein PHTF1", "gene_name": "PHTF1", "organism": "Human", "refseq_name": "protein PHTF1 isoform a", "refseq_ac": "NP_001309970", "gene_names_uniprotkb": "PHTF1; PHTF", "gene_names_refseq": "PHTF1; PHTF", "protein_names_uniprotkb": "Protein PHTF1", "protein_names_refseq": "protein PHTF1 isoform a; protein PHTF1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10745)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "10.1101/2023.09.13.557529;10395808;10729229;11237011;20089178;24366607;25576301;26992070;27862975;28834231;28904123;29242379;29437277;30315122;30379171;30429286;31154438;31530632;31844290;31937595;32357974;32387766;32488085;33141586;33392160;33592498;35051231", "class_list": "", "function": "Results supports the rs6679677 (PHTF1-PTPN22) SNP as a susceptibility factor for type 1 diabetes. 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": 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": 1, "reported_phosphosites": 5, "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": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q5VWP7;Q5VWP8;Q9BUP2;Q9H1X8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane;GO:0005783 endoplasmic reticulum;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9UMS5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NPD7-1", "uniprot_id": "NRN1_HUMAN", "mass": 15333.0, "length": 142, "protein_name": "Neuritin", "gene_name": "NRN1", "organism": "Human", "refseq_name": "neuritin isoform 2", "refseq_ac": "NP_001265640", "gene_names_uniprotkb": "NRN1; NRN", "gene_names_refseq": "NRN1; NRN; dJ380B8.2", "protein_names_uniprotkb": "Neuritin", "protein_names_refseq": "neuritin isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:51299); (R-HSA-163125)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "11072085;11237011;16723126;18265009;19569075;20405246;2443973;26728094;31844290;33141586;33592498;34171305;3422494;35806464;37024090;37249336;38705997;38720004;9122250", "class_list": "", "function": "By Northern blot, we confirm hypoxia-induced expression of insulin-like growth factor binding protein 3 (igfbp3), thioredoxin-interacting protein (txnip), neuritin (nrn1)., [RefSeq, PubMed]; CPG15 and CPG15-2 perform similar cellular functions but may play distinct roles in vivo through their cell-type- and tissue-specific transcriptional regulation, [RefSeq, PubMed]; Integrated Proteomics to Understand the Role of Neuritin (NRN1) as a Mediator of Cognitive Resilience to Alzheimer's Disease., [RefSeq, PubMed]; NRN1 Gene as a Potential Marker of Early-Onset Schizophrenia: Evidence from Genetic and Neuroimaging Approaches. Publication Status: Online-Only, [RefSeq, PubMed]; NRN1 epistasis with BDNF and CACNA1C: mediation effects on symptom severity through neuroanatomical changes in schizophrenia., [RefSeq, PubMed]; NRN1 interacts with Notch to increase oncogenic STAT3 signaling in melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; NRN1 polymorphisms have roles in fluid intelligence in schizophrenia, [RefSeq, PubMed]; Neuritin affects the activity of neuralized-like 1 by promoting degradation and weakening its affinity for substrate., [RefSeq, PubMed]; Promotes neurite outgrowth and especially branching of neuritic processes in primary hippocampal and cortical cells., [UniProtKB]; This gene encodes a member of the neuritin family, and is expressed in postmitotic-differentiating neurons of the developmental nervous system and neuronal structures associated with plasticity in the adult. The expression of this gene can be induced by neural activity and neurotrophins. The encoded protein contains a consensus cleavage signal found in glycosylphoshatidylinositol (GPI)-anchored proteins. The encoded protein promotes neurite outgrowth and arborization, suggesting its role in promoting neuritogenesis. Overexpression of the encoded protein may be associated with astrocytoma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]; We found neuritin is overexpressed in astrocytoma, which may be an important factor in tumorigenesis and progression of astrocytoma, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B2RA93;Q7Z4Y1", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0032281 AMPA glutamate receptor complex", "go_biological_process": "GO:1990138 neuron projection extension;GO:0090128 regulation of synapse maturation;GO:0099171 presynaptic modulation of chemical synaptic transmission;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9NPD7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P43627-1", "uniprot_id": "KI2L2_HUMAN", "mass": 38472.0, "length": 348, "protein_name": "Killer cell immunoglobulin-like receptor 2DL2", "gene_name": "KIR2DL2", "organism": "Human", "refseq_name": "killer cell immunoglobulin-like receptor 2DL2 precursor", "refseq_ac": "NP_055034", "gene_names_uniprotkb": "KIR2DL2; CD158B1; NKAT6", "gene_names_refseq": "CD158B1; CD158b; KIR2DL2; NKAT-6; NKAT6; p58.2", "protein_names_uniprotkb": "Killer cell immunoglobulin-like receptor 2DL2; CD158 antigen-like family member B1; NKAT-6; Natural killer-associated transcript 6; p58 NK receptor CL-43; p58 natural killer cell receptor clone CL-43", "protein_names_refseq": "CD158 antigen-like family member B1; MHC class I NK cell receptor; killer cell immunoglobulin-like receptor 2DL2 precursor; killer cell immunoglobulin-like receptor 2DL2; killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2; natural killer-associated transcript 6; p58 NK receptor CL-43; p58 natural killer cell receptor clone CL-43", "tax_id": 9606, "disease": "autoimmune hepatitis (Disease Ontology:DOID:2048)", "pathway": " (hsa:3803); (R-HSA-198933)", "pathway_count": 2, "publication_count": 86, "publication_id_list": "10097129;10499918;10746781;10850706;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;14719373;14970179;15034010;15136729;15155468;15187158;15304001;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;21800138;21841309;21877119;22396535;23695528;23929856;24305946;25703557;25716998;26284469;26300885;34177931;34948123;35154153;35874712;38387251;7531291;7542404;7749980;8178173;8662091;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "Evaluation of the genetic diversity of KIR genes in patients with endometrial cancer., [RefSeq, PubMed]; Increased Susceptibility of the CD57(-) NK Cells Expressing KIR2DL2/3 and NKG2C to iCasp9 Gene Retroviral Transduction and the Relationships with Proliferative Potential, Activation Degree, and Death Induction Response. Publication Status: Online-Only, [RefSeq, PubMed]; Killer Cell Immunoglobulin-Like Receptor Haplotype B Modulates Susceptibility to EBV-Associated Classic Hodgkin Lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]., [RefSeq]; Large-Scale Imputation of KIR Copy Number and HLA Alleles in North American and European Psoriasis Case-Control Cohorts Reveals Association of Inhibitory KIR2DL2 With Psoriasis. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor on natural killer (NK) cells for HLA-Cw1, 3, 7, and 8 allotypes. Inhibits the activity of NK cells thus preventing cell lysis., [UniProtKB, PubMed]; The KIR2DL2/HLA-C1C1 Gene Pairing Is Associated With an Increased Risk of SARS-CoV-2 Infection. 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": 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": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "C6EVR8;Q14951", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0140375 immune receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "P43627-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P43630-1", "uniprot_id": "KI3L2_HUMAN", "mass": 50230.0, "length": 455, "protein_name": "Killer cell immunoglobulin-like receptor 3DL2", "gene_name": "KIR3DL2", "organism": "Human", "refseq_name": "killer cell immunoglobulin-like receptor 3DL2 isoform 2 precursor", "refseq_ac": "NP_001229796", "gene_names_uniprotkb": "KIR3DL2; CD158K; NKAT4", "gene_names_refseq": "3DL2; CD158K; KIR-3DL2; KIR3DL2; NKAT-4; NKAT4B; NKAT4; p140", "protein_names_uniprotkb": "Killer cell immunoglobulin-like receptor 3DL2; CD158 antigen-like family member K; NKAT-4; Natural killer-associated transcript 4; p70 NK receptor CL-5; p70 natural killer cell receptor clone CL-5", "protein_names_refseq": "CD158 antigen-like family member K; KIR antigen 3DL2; MHC class I NK cell receptor; killer Ig receptor; killer cell immunoglobulin-like receptor 2DL2; killer cell immunoglobulin-like receptor 3DL2 isoform 2 precursor; killer cell immunoglobulin-like receptor 3DL2; killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2; killer-cell immunoglobulin-like receptor; natural killer-associated transcript 4; p70 NK receptor CL-5; p70 killer cell inhibitory receptor; p70 natural killer cell receptor clone CL-5", "tax_id": 9606, "disease": "", "pathway": " (hsa:3812); (R-HSA-198933)", "pathway_count": 2, "publication_count": 93, "publication_id_list": "10499918;10746781;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;14719373;14970179;15034010;15136729;15155468;15187158;15304001;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;21800138;21841309;21877119;22396535;23695528;23929856;24018270;24305946;25703557;25716998;26284469;26300885;26928464;28636952;29089310;29315492;29557506;34096033;34570200;35051231;36241641;38262874;7531291;7542404;7716543;8178173;8662091;8760804;8777725;8995416;9285412;9314561;9430221;9700512;9730896", "class_list": "", "function": "Activating KIR/HLA-I combinations as a risk factor of adult B-ALL., [RefSeq, PubMed]; CD158k and PD-1 expressions define heterogeneous subtypes of Sezary syndrome., [RefSeq, PubMed]; Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the 'framework' loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]., [RefSeq]; Receptor on natural killer (NK) cells and T cells for MHC class I molecules (PubMed:24018270, PubMed:28636952). Upon binding of peptide-free HLA-F open conformer, negatively regulates NK and T cell effector functions (PubMed:24018270). Acts as a receptor on astrocytes for HLA-F. Through interaction with HLA-F, may protect motor neurons from astrocyte-induced toxicity (PubMed:26928464)., [UniProtKB, PubMed, PubMed, PubMed]; Results identified significant KIR3DL2 expression in all cutaneous T-cell lymphomas subtypes, [RefSeq, PubMed]; Study found that KIR3DL2 is expressed in tissue tumor-infiltrating cells in the majority of patients with adult T-cell lymphoma/leukemia. Disease-specific survival of patients with KIR3DL2 expression > 50% was statistically significantly decreased compared with patients with KIR3DL2 expression < 5% or KIR3DL2 expression between 5% and 50%., [RefSeq, PubMed]; [Study of the distribution of KIR3DL2 alleles among ethnic Han Chinese from Zhejiang]., [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 4, "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": 40, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q13238;Q14947;Q14948;Q92684;Q95366;Q95367;Q95368", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0023029 MHC class Ib protein binding;GO:0140375 immune receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0006968 cellular defense response", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "P43630-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYG3-1", "uniprot_id": "MK67I_HUMAN", "mass": 34222.0, "length": 293, "protein_name": "MKI67 FHA domain-interacting nucleolar phosphoprotein", "gene_name": "NIFK", "organism": "Human", "refseq_name": "MKI67 FHA domain-interacting nucleolar phosphoprotein", "refseq_ac": "NP_115766", "gene_names_uniprotkb": "NIFK; MKI67IP; NOPP34", "gene_names_refseq": "MKI67IP; NIFK; Nop15; Nopp34", "protein_names_uniprotkb": "MKI67 FHA domain-interacting nucleolar phosphoprotein; Nucleolar phosphoprotein Nopp34; Nucleolar protein interacting with the FHA domain of pKI-67; hNIFK", "protein_names_refseq": "MKI67 FHA domain-interacting nucleolar phosphoprotein; hNIFK; nucleolar phosphoprotein Nopp34; nucleolar protein interacting with the FHA domain of pKi-67", "tax_id": 9606, "disease": "", "pathway": " (hsa:84365)", "pathway_count": 1, "publication_count": 100, "publication_id_list": "11237011;11342549;12429849;14659764;16244663;17081983;17287340;17322306;18452278;18669648;18767875;19007248;19413330;19651622;19664994;19664995;19691289;20068230;20068231;21406692;21539773;22223895;22424782;23186163;23301498;23481700;24715725;25114211;25576301;25826659;26154972;26375851;26529540;26984280;26992070;27600516;27846572;27869121;27920218;28063628;28510447;28514659;28832583;28904123;29242379;29331515;29393594;29493099;29557506;29786170;30429286;30484775;30524438;30779550;30784271;30833945;31154438;31217245;31530632;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34229054;34357683;34405274;34509645;34932366;35051231;35251023;35318648;35561310;35580925;36215666;36241641;36284347;37217939;37800782;37938771;38665916;40307207;40914422", "class_list": "", "function": "NIFK as a potential prognostic biomarker in colorectal cancer correlating with immune infiltrates., [RefSeq, PubMed]; NIFK is required for lung cancer progression via the RUNX1-dependent CK1alpha repression, which activates TCF4/beta-catenin signaling in metastasis and the Ki-67-dependent regulation in cell proliferation. Publication Status: Online-Only, [RefSeq, PubMed]; Nmr analysis of the solution structure of the FHA domain of human Ki67 and mapping of the binding surface for NIFK binding, [RefSeq, PubMed]; Potential encounter complexes of the Ki67FHA receptor and hNIFK peptide are misregistered states of the beta-sheet., [RefSeq, PubMed]; The RNA recognition motif of NIFK is required for rRNA maturation during cell cycle progression., [RefSeq, PubMed]; This gene encodes a protein that interacts with the forkhead-associated domain of the Ki-67 antigen. The encoded protein may bind RNA and may play a role in mitosis and cell cycle progression. Multiple pseudogenes exist on chromosomes 5, 10, 12, 15, and 19.[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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 10, "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": "A8K788;Q8TB66;Q96ED4", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005694 chromosome", "go_biological_process": "GO:0009303 rRNA transcription;GO:0016072 rRNA metabolic process;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q9BYG3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P42356-1", "uniprot_id": "PI4KA_HUMAN", "mass": 236830.0, "length": 2102, "protein_name": "Phosphatidylinositol 4-kinase alpha", "gene_name": "PI4KA", "organism": "Human", "refseq_name": "phosphatidylinositol 4-kinase alpha isoform 1", "refseq_ac": "NP_477352", "gene_names_uniprotkb": "PI4KA; PIK4CA; PIK4", "gene_names_refseq": "GIDID2; PI4K-ALPHA; PI4KA; PIK4CA; PMGYCHA; SPG84; pi4K230", "protein_names_uniprotkb": "Phosphatidylinositol 4-kinase alpha; 2.7.1.67; PI4-kinase alpha; PI4K-alpha; Phosphatidylinositol 4-Kinase III alpha; PtdIns-4-kinase alpha", "protein_names_refseq": "PI4-kinase alpha; phosphatidylinositol 4-kinase 230; phosphatidylinositol 4-kinase III alpha; phosphatidylinositol 4-kinase IIII+/-; phosphatidylinositol 4-kinase alpha isoform 1; phosphatidylinositol 4-kinase, catalytic, alpha; phosphatidylinositol 4-kinase, type III, alpha; ptdIns-4-kinase alpha; testicular secretory protein Li 35", "tax_id": 9606, "disease": "chromosome 22q11.2 deletion syndrome, distal (Disease Ontology:DOID:0060413); hereditary spastic paraplegia 84 (Disease Ontology:DOID:0112347); polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis (MONDO:MONDO:0014679); gastrointestinal defects and immunodeficiency syndrome 2 (MONDO:MONDO:0030669)", "pathway": " (hsa:5297); (R-HSA-1483248); (R-HSA-1660514)", "pathway_count": 3, "publication_count": 141, "publication_id_list": "10.1101/2023.09.13.557529;10101268;10419465;10559940;10567352;10764818;10766823;10805725;10806194;11237011;11279162;11706043;11716755;11923287;12324459;12668758;14527956;14530412;14659893;17555535;17556371;18477386;18669648;18691976;18950639;19211563;19668216;19690332;23186163;23229899;23481700;24275569;24417819;25418920;25522275;25608530;25645385;25802875;25855803;25892735;26375851;26571211;26728094;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28446606;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34415310;34415322;34509645;34561969;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36241641;36284347;37390900;37453227;37813099;37938771;37979461;37996444;38253038;7628435;7761412;7961848;8634694;8999962;9148941;9405935;9516481;9878262", "class_list": "", "function": "Actin dynamics regulation by TTC7A/PI4KIIIalpha limits DNA damage and cell death under confinement., [RefSeq, PubMed]; Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate., [UniProtKB, PubMed, PubMed]; Adaptor proteins mediate CXCR4 and PI4KA crosstalk in prostate cancer cells and the significance of PI4KA in bone tumor growth. Publication Status: Online-Only, [RefSeq, PubMed]; CircPI4KA Overexpression Enhances Carcinogenesis and Glycolysis Metabolism in Papillary Thyroid Carcinoma by Causing the miR-1287-5p-Mediated NRP2 Expression Elevation., [RefSeq, PubMed]; PI4KA and PIKfyve: Essential phosphoinositide signaling enzymes involved in myriad human diseases. Review article, [RefSeq, PubMed]; Structural basis for the conserved roles of PI4KA and its regulatory partners and their misregulation in disease. Review article, [RefSeq, PubMed]; This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 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": 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": 10, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 55, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 4, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z625;Q9UPG2", "ec_number_list": "2.7.1.67", "go_molecular_function": "GO:0005524 ATP binding;GO:0045296 cadherin binding;GO:0004430 1-phosphatidylinositol 4-kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0048015 phosphatidylinositol-mediated signaling;GO:0006661 phosphatidylinositol biosynthetic process;GO:0046854 phosphatidylinositol phosphate biosynthetic process;GO:0044788 host-mediated perturbation of viral process", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "P42356-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96T66-1", "uniprot_id": "NMNA3_HUMAN", "mass": 28322.0, "length": 252, "protein_name": "Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3", "gene_name": "NMNAT3", "organism": "Human", "refseq_name": "nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 2", "refseq_ac": "NP_001186976", "gene_names_uniprotkb": "NMNAT3; FKSG76", "gene_names_refseq": "FKSG76; NMNAT3; PNAT-3; PNAT3", "protein_names_uniprotkb": "Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3; 2.7.7.18; 2.7.7.1; NMN adenylyltransferase 3; NMN/NaMN adenylyltransferase 3; NaMN adenylyltransferase 3; Nicotinamide-nucleotide adenylyltransferase 3; Nicotinate-nucleotide adenylyltransferase 3; PNAT-3; Pyridine nucleotide adenylyltransferase 3", "protein_names_refseq": "NMN adenylyltransferase 3; NMN/NaMN adenylyltransferase 3; NaMN adenylyltransferase 3; nicotinamide mononucleotide adenylyltransferase 3; nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 2; nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3; nicotinate-nucleotide adenylyltransferase 3; pyridine nucleotide adenylyltransferase 3", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); glaucoma (Disease Ontology:DOID:1686)", "pathway": " (hsa:349565); (R-HSA-196807)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "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;18344983;18411268;19531469;20388704;20457531;2129526;21504897;21699903;21933152;21994945;22701565;22822066;23212377;23230272;24155910;24717514;24847004;25531177;26616331;26992070;28489076;32157095;32906142;33087354;35051231;4349867;8182091;8289818;8527488;8575745;8809081;9473669", "class_list": "", "function": "Analysis of isoform-specific targeting and interaction domains in human nicotinamide mononucleotide adenylyltransferases, [RefSeq, PubMed]; Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP (PubMed:16118205, PubMed:17402747, PubMed:26616331). Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate (TrMP) as substrate. Can also use GTP and ITP as nucleotide donors. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity, can use NAD(+), NADH, NaAD, nicotinic acid adenine dinucleotide phosphate (NHD), nicotinamide guanine dinucleotide (NGD) as substrates. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+). Protects against axonal degeneration following injury (PubMed:16118205, PubMed:17402747). May be involved in the maintenance of axonal integrity (By similarity). Also functions as a stress-response chaperone protein that prevents toxic aggregation of proteins; this function may be independent of its NAD(+) synthesis activity (PubMed:18344983)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate (TrMP) as substrate. Can also use GTP and ITP as nucleotide donors. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity, can use NAD(+), NADH, NaAD, nicotinic acid adenine dinucleotide phosphate (NHD), nicotinamide guanine dinucleotide (NGD) as substrates. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+). Protects against axonal degeneration following injury. May be involved in the maintenance of axonal integrity. Also functions as a stress-response chaperone protein that prevents toxic aggregation of proteins; this function may be independent of its NAD(+) synthesis activity., [UniProtKB, UniProtKB, UniProtKB]; NMN binds before ATP with the mitochondrial isozyme NMNAT3. Only NMNAT3 utilizes ITP efficiently in place of ATP, and NMNH conversion to NADH by NMNAT1 and NMNAT3 occurs at similar rates., [RefSeq, PubMed]; NMNAT1 is a nuclear protein, whereas NMNAT2 and -3 are localized to the Golgi complex and the mitochondria, [RefSeq, PubMed]; NMNAT3 is absent in mitochondria in human cells, and, akin to plants and yeast, cytosolic NAD maintains the mitochondrial NAD pool. Erratum:[PLoS One. 2013;8(12). doi:10.1371/annotation/f5e6107f-a911-4c15-a881-7cb7e4946ff6] Publication Status: Online-Only, [RefSeq, PubMed]; Red blood cells represent the first human cell type with a remarkable predominance of NMNAT3 over NMNAT1; NMNAT2 is absent., [RefSeq, PubMed]; This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucleotide or nicotinic acid mononucleotide, respectively. The encoded protein is localized to mitochondria and may also play a neuroprotective role as a molecular chaperone. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B3KVR6;D3DNF2;D3DNF3;Q8N4G1", "ec_number_list": "2.5.1.25;2.7.7.1;2.7.7.18", "go_molecular_function": "GO:0005524 ATP binding;GO:0004515 nicotinate-nucleotide adenylyltransferase activity;GO:0000309 nicotinamide-nucleotide adenylyltransferase activity;GO:0003824 catalytic activity;GO:0016779 nucleotidyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0030424 axon;GO:0043025 neuronal cell body", "go_biological_process": "GO:0034612 response to tumor necrosis factor;GO:0009165 nucleotide biosynthetic process;GO:0034355 NAD+ biosynthetic process via the salvage pathway;GO:0019363 pyridine nucleotide biosynthetic process;GO:0008033 tRNA processing", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q96T66-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P52848-1", "uniprot_id": "NDST1_HUMAN", "mass": 100868.0, "length": 882, "protein_name": "Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1", "gene_name": "NDST1", "organism": "Human", "refseq_name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 2", "refseq_ac": "NP_001287992", "gene_names_uniprotkb": "NDST1; HSST1; HSST", "gene_names_refseq": "HSST; MRT46; NDST1; NST1", "protein_names_uniprotkb": "Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1; Glucosaminyl N-deacetylase/N-sulfotransferase 1; HSNST 1; N-HSST 1; N-heparan sulfate sulfotransferase 1; NDST-1; [Heparan sulfate]-glucosamine N-sulfotransferase 1", "protein_names_refseq": "HSNST 1; N-Deacetylase-N-sulfotransferase 1; N-HSST 1; N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1; N-deacetylase/N-sulfotransferase 1; N-heparan sulfate sulfotransferase 1; NDST-1; [Heparan sulfate]-glucosamine N-sulfotransferase 1; bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 2; bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1; glucosaminyl N-deacetylase/N-sulfotransferase 1; heparan sulfate-N-deacetylase/N-sulfotransferase; heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); autosomal recessive intellectual developmental disorder 46 (Disease Ontology:DOID:0081210); intellectual disability (Disease Ontology:DOID:1059); DiGeorge syndrome (Disease Ontology:DOID:11198); newborn respiratory distress syndrome (Disease Ontology:DOID:12716); azoospermia (Disease Ontology:DOID:14227); germ cell cancer (Disease Ontology:DOID:2994); congenital diaphragmatic hernia (Disease Ontology:DOID:3827)", "pathway": " (hsa:3340); (R-HSA-2022928)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10.1101/2023.09.13.557529;10196134;10318803;10639137;10644753;10677367;10716625;11087757;11169766;11237011;11274177;11279150;11390981;12138164;12492399;15082721;15607426;16343444;19880432;20554947;21700882;21937992;22660413;25125150;25892735;28132690;28148688;28211985;28228285;28404855;28467828;28904123;29557506;29786170;30315122;30429286;30471091;30573663;31222486;31364126;31611695;31844290;32157095;32161166;32350084;32878022;32897882;32938616;33159882;33298915;33592498;33912179;33968037;34087483;34357683;34405274;35051231;35137078;35154160;35251023;35580925;35676258;7601448;9230113;9346953;9463333;9535912;9744796;9915799;9988767", "class_list": "glycogene", "function": "Among the genes enriched in this screening, the authors found that TM9SF2 is critical for N-sulfation of heparan sulfate and therefore for chikungunya virus infection because it is involved in the proper localization and stability of NDST1. Publication Status: Online-Only, [RefSeq, PubMed]; Compound heterozygous mutations in NDST1 were identified, in the heparan sulfate N deacetylatase domain of one allele and the sulfotransferase domain of the other allele. This report expands the phenotypic spectrum of Ndst1 deficiency in humans., [RefSeq, PubMed]; Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate (PubMed:35137078, PubMed:9230113, PubMed:9744796). Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis (PubMed:9230113). Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Participates in biosynthesis of heparan sulfate that can ultimately serve as L-selectin ligands, thereby playing a role in inflammatory response (By similarity). Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413)., [UniProtKB, PubMed, PubMed, UniProtKB]; Lacks both N-deacetylase and N-sulfotransferase activities. Acts as a dominant negative on isoform 1, likely by changing the composition of enzyme complexes responsible for elongation and modification of heparan sulfates., [UniProtKB, PubMed]; MiRNA-191 functions as an oncogene in primary glioblastoma by directly targeting NDST1., [RefSeq, PubMed]; This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. The encoded protein catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate to nitrogen of glucosamine in heparan sulfate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [RefSeq]; Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 894, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B7Z1Q0;E7EVJ3;Q96E57", "ec_number_list": "3.-.-.-;2.8.2.8;3.5.1.-;2.8.2.-", "go_molecular_function": "GO:0019213 deacetylase activity;GO:0015016 heparan sulfate N-sulfotransferase activity;GO:0050119 N-acetylglucosamine deacetylase activity;GO:0102140 heparan sulfate N-deacetylase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0032588 trans-Golgi network membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0030210 heparin proteoglycan biosynthetic process;GO:0015012 heparan sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "P52848-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5SRE7-1", "uniprot_id": "PHYD1_HUMAN", "mass": 32411.0, "length": 291, "protein_name": "Phytanoyl-CoA dioxygenase domain-containing protein 1", "gene_name": "PHYHD1", "organism": "Human", "refseq_name": "phytanoyl-CoA dioxygenase domain-containing protein 1 isoform a", "refseq_ac": "NP_001094346", "gene_names_uniprotkb": "PHYHD1", "gene_names_refseq": "PHYHD1", "protein_names_uniprotkb": "Phytanoyl-CoA dioxygenase domain-containing protein 1; 1.14.11.-; Protein PHYHD1", "protein_names_refseq": "phytanoyl-CoA dioxygenase domain-containing protein 1 isoform a; phytanoyl-CoA dioxygenase domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:254295)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;17525332;21530488;26992070;28834231;29485866;30429286;31154438;31844290;32488085;33968037;34171305;35580925;37235702", "class_list": "", "function": "2-oxoglutarate(2OG)-dependent dioxygenase that catalyzes the conversion of 2-oxoglutarate to succinate and CO(2) in an iron-dependent manner (PubMed:21530488). However, does not couple 2OG turnover to the hydroxylation of acyl-coenzyme A derivatives, implying that it is not directly involved in phytanoyl coenzyme-A metabolism (PubMed:21530488). Does not show detectable activity towards fatty acid CoA thioesters (PubMed:21530488)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Human phytanoyl-CoA dioxygenase domain-containing 1 (PHYHD1) is a putative oxygen sensor associated with RNA and carbohydrate metabolism., [RefSeq, PubMed]; Isoform 2 probably lacks enzyme activity., [UniProtKB, PubMed]; Isoform 3 probably lacks enzyme activity., [UniProtKB, PubMed]; PHYHD1A has the double-stranded beta-helix fold and Fe(II) and cosubstrate binding residues characteristic of the 2-oxoglutarate dependent oxygenases and catalyzes the conversion of 2-oxoglutarate to succinate and CO(2) in an iron-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": 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": "A6PWN9;A6PWP0;B3KT57;B4E3X8;Q5SRE9;Q5SRF0;Q7Z623;Q7Z7P9;Q96GM4", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0016706 2-oxoglutarate-dependent dioxygenase activity;GO:0051213 dioxygenase activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q5SRE7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NA29-1", "uniprot_id": "NLS1_HUMAN", "mass": 60170.0, "length": 543, "protein_name": "Sodium-dependent lysophosphatidylcholine symporter 1", "gene_name": "MFSD2A", "organism": "Human", "refseq_name": "sodium-dependent lysophosphatidylcholine symporter 1 isoform 3", "refseq_ac": "NP_001274737", "gene_names_uniprotkb": "MFSD2A; HMFN0656; MFSD2; NLS1; PP9177; PRO341", "gene_names_refseq": "HsMFSD2A; MCPH15; MFSD2A; MFSD2; NEDMISBA; NLS1; SLC59A1", "protein_names_uniprotkb": "Sodium-dependent lysophosphatidylcholine symporter 1; HsMFSD2A; MFSD2a; Major facilitator superfamily domain-containing protein 2A; NLS1; Sodium-dependent LPC symporter 1", "protein_names_refseq": "major facilitator superfamily domain containing 2A; major facilitator superfamily domain-containing protein 2A; sodium-dependent LPC symporter 1; sodium-dependent lysophosphatidylcholine symporter 1 isoform 3; sodium-dependent lysophosphatidylcholine symporter 1", "tax_id": 9606, "disease": "primary autosomal recessive microcephaly 15 (Disease Ontology:DOID:0070277); microcephaly (Disease Ontology:DOID:10907)", "pathway": " (hsa:84879); (R-HSA-1483191)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "10100195;10191259;10677542;10893425;11068039;11237011;11420179;11698453;12055623;12216837;12221122;12975309;14973250;15175005;15221005;15498874;15715662;15911624;16303743;17007874;17145094;17158099;17561512;18694395;18694939;18988732;19915674;20236515;20338778;21677192;21926997;23177091;23328280;23481700;23901139;24715725;24732803;24828040;24828044;25418920;25502872;26005865;26005868;26048993;26945070;26992070;27600516;28821867;28832583;28904123;29242379;29317506;29557506;3057511;31844290;32157095;32350084;32357974;32387766;32502341;32572202;32938616;32983136;33186761;33392160;33912179;33968037;33981976;34135507;34357683;34400370;34433824;34509645;34932366;35051231;35580925;35710838;36010968;36241641;38155530;38583303;39894887;9593753", "class_list": "", "function": "Investigation of the Binding Interaction of Mfsd2a with NEDD4-2 via Molecular Dynamics Simulations., [RefSeq, PubMed]; MFSD2 is a placenta-specific receptor for the fusogenic, endogenous retrovirus-derived, human syncytin-2, and plays a role in placenta morphogenesis., [RefSeq, PubMed]; MFSD2A is a novel lung cancer tumor suppressor gene that regulates cell cycle progression and matrix attachment. Publication Status: Online-Only, [RefSeq, PubMed]; MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease., [RefSeq, PubMed]; Placental MFSD2A expression in fetal growth restriction and maternal and fetal DHA status., [RefSeq, PubMed]; Results identify Mfsd2a (major facilitator superfamily domain-containing protein 2a) and an additional closely related protein Mfsd2b, and suggest that Mfsd2a plays a role in adaptive thermogenesis., [RefSeq, PubMed]; Sodium-dependent lysophosphatidylcholine (LPC) symporter, which plays an essential role for blood-brain barrier formation and function (PubMed:24828040, PubMed:32572202, PubMed:34135507). Specifically expressed in endothelium of the blood-brain barrier of micro-vessels and transports LPC into the brain (By similarity). Transport of LPC is essential because it constitutes the major mechanism by which docosahexaenoic acid (DHA), an omega-3 fatty acid that is essential for normal brain growth and cognitive function, enters the brain (PubMed:26005868, PubMed:34135507). Transports LPC carrying long-chain fatty acids such LPC oleate and LPC palmitate with a minimum acyl chain length of 14 carbons (By similarity). Does not transport docosahexaenoic acid in unesterified fatty acid (By similarity). Specifically required for blood-brain barrier formation and function, probably by mediating lipid transport (By similarity). Not required for central nervous system vascular morphogenesis (By similarity). Acts as a transporter for tunicamycin, an inhibitor of asparagine-linked glycosylation (PubMed:21677192). In placenta, acts as a receptor for ERVFRD-1/syncytin-2 and is required for trophoblast fusion (PubMed:18988732, PubMed:23177091)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Structural insights into the lysophospholipid brain uptake mechanism and its inhibition by syncytin-2., [RefSeq, PubMed]; The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier and is required for brain growth and function. Defects in this gene are a cause of a progressive microcephaly syndrome. [provided by RefSeq, Mar 2017]., [RefSeq]; Three additional SNPs in the MFSD2 genes showed ethnic differences in allelic frequencies 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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "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": 42, "reported_glycation": 0, "reported_snv": 11, "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": "A8K675;Q6UWU5;Q96F59;Q9BRC8", "ec_number_list": "", "go_molecular_function": "GO:0015245 fatty acid transmembrane transporter activity;GO:0051978 lysophospholipid:sodium symporter activity;GO:0005324 long-chain fatty acid transmembrane transporter activity;GO:0005548 phospholipid transporter activity;GO:0140348 lysophosphatidylcholine flippase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005764 lysosome;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0060042 retina morphogenesis in camera-type eye;GO:0051977 lysophospholipid transport;GO:1990379 lipid transport across blood-brain barrier;GO:0060856 establishment of blood-brain barrier;GO:0030307 positive regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q8NA29-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q701N2-1", "uniprot_id": "KRA55_HUMAN", "mass": 21409.0, "length": 237, "protein_name": "Keratin-associated protein 5-5", "gene_name": "KRTAP5-5", "organism": "Human", "refseq_name": "keratin-associated protein 5-5", "refseq_ac": "NP_001001480", "gene_names_uniprotkb": "KRTAP5-5; KAP5-11; KAP5.5; KRTAP5-11; KRTAP5.11; KRTAP5.5", "gene_names_refseq": "KRTAP5-11; KRTAP5-5; KRTAP5.5", "protein_names_uniprotkb": "Keratin-associated protein 5-5; Keratin-associated protein 5-11; Keratin-associated protein 5.11; Keratin-associated protein 5.5; Ultrahigh sulfur keratin-associated protein 5.5", "protein_names_refseq": "keratin associated protein 5-11; keratin-associated protein 5-5; keratin-associated protein 5.11; keratin-associated protein 5.5; ultrahigh sulfur keratin-associated protein 5.5", "tax_id": 9606, "disease": "", "pathway": " (hsa:439915); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "15144888;15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;28005267;37217939;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]; KRTAP5-5 expression is significantly downregulated in human masticatory mucosa during wound healing, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MWN2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q701N2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86WI3-1", "uniprot_id": "NLRC5_HUMAN", "mass": 204595.0, "length": 1866, "protein_name": "Protein NLRC5", "gene_name": "NLRC5", "organism": "Human", "refseq_name": "protein NLRC5 isoform 2", "refseq_ac": "NP_001317481", "gene_names_uniprotkb": "NLRC5; NOD27; NOD4", "gene_names_refseq": "CLR16.1; NLRC5; NOD27; NOD4", "protein_names_uniprotkb": "Protein NLRC5; CLR16.1; Caterpiller protein 16.1; Nucleotide-binding oligomerization domain protein 27; Nucleotide-binding oligomerization domain protein 4", "protein_names_refseq": "NOD-like receptor C5; caterpiller protein 16.1; nucleotide-binding oligomerization domain protein 4; nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5; nucleotide-binding oligomerization domains 27; protein NLRC5 isoform 2", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:84166); (R-HSA-168928); (R-HSA-936440); (R-HSA-9758274)", "pathway_count": 4, "publication_count": 109, "publication_id_list": "11237011;12615073;15208624;15389287;15771576;16125763;16127453;16153868;16394098;16699525;16715065;16959974;17392790;17600090;17991829;18057259;18200010;18307765;18591409;19017631;19125153;19484123;19531363;19881509;19893624;20061403;20304918;20403326;20434986;20538593;20610642;20628368;21209280;21703539;22898188;23481700;24366607;24715725;24755855;25505266;25576301;26154972;26240016;26620909;26811146;26992070;27426725;27846572;27862975;27920218;28218747;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30524438;30833945;31154438;31217245;31530632;31826938;31844290;31937595;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33654074;33717175;33912179;33936100;33968037;34211107;34509645;34561969;34932366;35051231;35494241;35580925;36284347;37938771;38235131;38253038;38519032;38961101;39121974;39277599", "class_list": "", "function": "CircATXN7 regulates the proliferation and invasion of esophageal cancer cells through miR-4319/NLRC5., [RefSeq, PubMed]; Function for NLRC5 in anti-viral innate immune responses, [RefSeq, PubMed]; NLRC5 is identified and characterized as a key regulator of proinflammatory pathways in immune cells., [RefSeq, PubMed]; NLRC5 may represent a molecular switch of interferon (IFN)-gamma activation sequence and IFN-specific response element signaling pathways contributing to antiviral defense mechanisms., [RefSeq, PubMed]; NLRC5 overexpression in ovarian tumors remodels the tumor microenvironment and increases T-cell reactivity toward autologous tumor-associated antigens. Publication Status: Online-Only, [RefSeq, PubMed]; NLRC5 promotes tumorigenesis by regulating the PI3K/AKT signaling pathway in cervical cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Orientia tsutsugamushi Ank5 promotes NLRC5 cytoplasmic retention and degradation to inhibit MHC class I expression. Publication Status: Online-Only, [RefSeq, PubMed]; Probable regulator of the NF-kappa-B and type I interferon signaling pathways. May also regulate the type II interferon signaling pathway. Plays a role in homeostatic control of innate immunity and in antiviral defense mechanisms., [UniProtKB, PubMed, PubMed]; Study identifies NLRC5 as a negative regulator that blocks two central components of the NF-kappaB and type I interferon signaling pathways and suggest an important role for NLRC5 in homeostatic control of innate immunity., [RefSeq, PubMed]; The balance between nuclear import and export of NLRC5 regulates MHC class I transactivation., [RefSeq, PubMed]; This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 55, "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": "B5MEF1;C9JMD8;Q6P4A6;Q86VM7;Q8NF42;Q8TEE2;Q8TEJ1;Q969L7", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0045087 innate immune response;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051607 defense response to virus;GO:0043124 negative regulation of canonical NF-kappaB signal transduction;GO:0060340 positive regulation of type I interferon-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q86WI3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q496H8-1", "uniprot_id": "NRN1L_HUMAN", "mass": 17786.0, "length": 165, "protein_name": "Neuritin-like protein", "gene_name": "NRN1L", "organism": "Human", "refseq_name": "neuritin-like protein isoform 2 precursor", "refseq_ac": "NP_001335611", "gene_names_uniprotkb": "NRN1L; PRO5725", "gene_names_refseq": "MRCC2446; NRN1L; UNQ2446; cpg15-2", "protein_names_uniprotkb": "Neuritin-like protein", "protein_names_refseq": "neuritin-like protein isoform 2 precursor; neuritin-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:123904); (R-HSA-163125)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "11072085;11237011;12975309;18265009;2443973;31844290;3422494;34509645;35580925", "class_list": "", "function": "CPG15 and CPG15-2 perform similar cellular functions but may play distinct roles in vivo through their cell-type- and tissue-specific transcriptional regulation., [RefSeq, PubMed]; The protein encoded by this gene is extracellular and enhances both neurite growth and neuronal survival. The encoded protein is found both as a GPI anchored membrane-bound form and as a secreted form. This activity-related ligand functions as a homodimer or heterodimer. [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": 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": "Q6UWH7", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0030424 axon;GO:0098552 side of membrane", "go_biological_process": "GO:1990138 neuron projection extension;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q496H8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75607-1", "uniprot_id": "NPM3_HUMAN", "mass": 19344.0, "length": 178, "protein_name": "Nucleoplasmin-3", "gene_name": "NPM3", "organism": "Human", "refseq_name": "nucleoplasmin-3", "refseq_ac": "NP_008924", "gene_names_uniprotkb": "NPM3", "gene_names_refseq": "NPM3; PORMIN", "protein_names_uniprotkb": "Nucleoplasmin-3", "protein_names_refseq": "nucleophosmin/nucleoplasmin family, member 3; nucleoplasmin-3", "tax_id": 9606, "disease": "primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:10360)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11722795;11862315;15596447;17081983;18452278;18669648;20068231;20073534;20305658;21406692;22223895;22362753;23186163;23301498;24129315;25418920;27893789;28510447;28904123;30429286;31844290;31848261;32897882;33214551;34019948;34561969;36241641;36284347;37254219;38029539;39300184", "class_list": "", "function": "Characterization of the AGR2-NPM3 axis uncovers the AGR2 involvement in PD-L1 regulation in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; NPM3 as a novel oncogenic factor and poor prognostic marker contributes to cell proliferation and migration in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the regulation of diverse cellular processes such as ribosome biogenesis, chromatin remodeling or protein chaperoning (PubMed:20073534, PubMed:22362753). Modulates the histone chaperone function and the RNA-binding activity of nucleolar phosphoprotein B23/NPM (PubMed:22362753). Efficiently mediates chromatin remodeling when included in a pentamer containing NPM3 and NPM (PubMed:15596447)., [UniProtKB, PubMed, PubMed, PubMed]; Pumilio1 regulates NPM3/NPM1 axis to promote PD-L1-mediated immune escape in gastric cancer., [RefSeq, PubMed]; The protein encoded by this gene is related to the nuclear chaperone phosphoproteins, nucleoplasmin and nucleophosmin. This protein is strongly expressed in diverse cell types where it localizes primarily to the nucleus. Based on its similarity to nucleoplasmin and nucleophosmin, this protein likely functions as a molecular chaperone in the cell nucleus. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "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": "Q9UNY6", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006338 chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "O75607-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BRX9-1", "uniprot_id": "WDR83_HUMAN", "mass": 34343.0, "length": 315, "protein_name": "WD repeat domain-containing protein 83", "gene_name": "WDR83", "organism": "Human", "refseq_name": "WD repeat domain-containing protein 83", "refseq_ac": "NP_001093207", "gene_names_uniprotkb": "WDR83; MORG1", "gene_names_refseq": "MORG1; WDR83", "protein_names_uniprotkb": "WD repeat domain-containing protein 83; MAPK organizer 1; Mitogen-activated protein kinase organizer 1", "protein_names_refseq": "MAPK organizer 1; WD repeat domain-containing protein 83; mitogen-activated protein kinase organizer 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84292); (R-HSA-5674135)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "10209122;10409742;10725339;10891492;11237011;11802164;11802165;11991638;12473660;12479806;12832465;14636584;14970219;15118098;15239952;15260967;15520807;15543157;15547943;16135787;16407229;16879721;17178906;17496912;17563371;19091303;19219045;19242111;19279408;20858867;21779496;22177953;22569528;23439680;23614898;23667175;23934108;24746704;24937142;25195011;25313996;25435214;26992070;27227380;28939558;29437277;29467321;29557506;30034615;30794926;31844290;32157095;3287375;32938616;34171305;34932366;35051231;35327980;35580925;36284347;37217939;37938771;38103557;38450633;7565670;7565795;7731720;7929275;7935411;8051079;8157000;9020159;9733512;9858547", "class_list": "", "function": "Cloning of the Human MORG1 Promoter: Differential Regulation by Hypoxia and Prolyl-Hydroxylase Inhibitors. Publication Status: Online-Only, [RefSeq, PubMed]; Component of a modular scaffold system that participates in the regulation of agonist-specific ERK signaling., [RefSeq, PubMed]; Functional characterization of the homologous rat gene., [RefSeq, PubMed]; Includes the identification of this protein in C complex spliceosomes., [RefSeq, PubMed]; Molecular scaffold protein for various multimeric protein complexes. Acts as a module in the assembly of a multicomponent scaffold for the ERK pathway, linking ERK responses to specific agonists. At low concentrations it enhances ERK activation, whereas high concentrations lead to the inhibition of ERK activation. Also involved in response to hypoxia by acting as a negative regulator of HIF1A/HIF-1-alpha via its interaction with EGLN3/PHD3. May promote degradation of HIF1A. May act by recruiting signaling complexes to a specific upstream activator (By similarity). May also be involved in pre-mRNA splicing. Participates in tight junction development by regulating apico-basal polarity, a key step in tissue development and organization. Mechanistically, regulates the translocation of PAR6-aPKC from the cytoplasm to the apical surface by acting as an adapter between PARD6B AND CRB3 (PubMed:23439680). Also acts as a negative regulator of mTORC1 under nutrient-rich conditions by binding to the active Rag GTPases to inhibit mTORC1 localization to the lysosome and phosphorylation of downstream targets. This facilitates constitutive basal autophagy during nutrient availability (PubMed:38103557)., [UniProtKB, UniProtKB, PubMed, PubMed]; This gene encodes a member of the WD-40 protein family. The protein is proposed to function as a molecular scaffold for various multimeric protein complexes. The protein associates with several components of the extracellular signal-regulated kinase (ERK) pathway, and promotes ERK activity in response to serum or other signals. The protein also interacts with egl nine homolog 3 (EGLN3, also known as PHD3) and regulates expression of hypoxia-inducible factor 1, and has been purified as part of the spliceosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]., [RefSeq]; WDR83/MORG1 inhibits RRAG GTPase-MTORC1 signaling to facilitate basal autophagy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2RAF1;Q53FT6", "ec_number_list": "", "go_molecular_function": "GO:0016301 kinase activity", "go_cellular_component": "GO:0005681 spliceosomal complex;GO:0005764 lysosome;GO:0010008 endosome membrane;GO:0071013 catalytic step 2 spliceosome;GO:0005737 cytoplasm", "go_biological_process": "GO:0000375 RNA splicing, via transesterification reactions;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9BRX9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95427-1", "uniprot_id": "PIGN_HUMAN", "mass": 105810.0, "length": 931, "protein_name": "GPI ethanolamine phosphate transferase 1", "gene_name": "PIGN", "organism": "Human", "refseq_name": "GPI ethanolamine phosphate transferase 1 isoform 1", "refseq_ac": "NP_036459", "gene_names_uniprotkb": "PIGN; MCD4", "gene_names_refseq": "GPI-ETI; MCAHS1; MCAHS; MCD4; MDC4; PIG-N; PIGN", "protein_names_uniprotkb": "GPI ethanolamine phosphate transferase 1; 2.-.-.-; GPI-ETI; GPI-ethanolamine transferase I; MCD4 homolog; PIG-N; Phosphatidylinositol-glycan biosynthesis class N protein", "protein_names_refseq": "GPI ethanolamine phosphate transferase 1 isoform 1; GPI ethanolamine phosphate transferase 1; GPI-ethanolamine transferase I; MCD4 homolog; phosphatidylinositol-glycan biosynthesis class N protein", "tax_id": 9606, "disease": "multiple congenital anomalies-hypotonia-seizures syndrome 1 (Disease Ontology:DOID:0080138); multiple congenital anomalies-hypotonia-seizures syndrome (Disease Ontology:DOID:0080503); holoprosencephaly (Disease Ontology:DOID:4621)", "pathway": " (hsa:23556); (R-HSA-162710)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "10.1101/2023.09.13.557529;10069808;10089216;10944123;11226175;11237011;14517336;14742432;15623507;15632136;15635094;15720390;16162815;21493957;23446422;23481700;24190977;24253414;24366607;24397554;25576301;25880248;25892735;26364997;26375851;26394714;26419326;26811146;26992070;27038415;27862975;27920218;28218747;28228285;28514659;28904123;29242379;29393594;29437277;29557506;29632046;29741879;29769354;29786170;30315122;30418433;30429286;31092671;31154438;31844290;32157095;32357974;32387766;32488085;32502341;32938616;33298915;33717175;33912179;33936100;33968037;34051595;34211107;34357683;34561473;35561310;35580925;36241641;36322149;36363484;37074911;8861954;8900170;9463366", "class_list": "glycogene", "function": "Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study., [RefSeq, PubMed]; Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Ethanolamine phosphate transferase that catalyzes an ethanolamine phosphate (EtNP) transfer from phosphatidylethanolamine (PE) to the 2-OH position of the first alpha-1,4-linked mannose of a 2-acyl-6-[alpha-D-mannosyl-(1->6)-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H3) intermediate to generate a 2-acyl-6-[alpha-D-mannosyl-(1->6)-2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol and participates in the eighth step of the glycosylphosphatidylinositol-anchor biosynthesis (By similarity). Also transfers the EtNP on a mannosyl GPI intermediate, 2-acyl-6-(alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl)-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H2) (By similarity). May act as suppressor of replication stress and chromosome missegregation (PubMed:23446422)., [UniProtKB, PubMed, UniProtKB]; Novel insights into the clinico-radiological spectrum of phenotypes associated to PIGN mutations., [RefSeq, PubMed]; PIGN spatiotemporally regulates the spindle assembly checkpoint proteins in leukemia transformation and progression. Publication Status: Online-Only, [RefSeq, PubMed]; PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 0, "reported_glycation": 0, "reported_snv": 1320, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 8, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q7L8F8;Q8TC01;Q9NT05", "ec_number_list": "2.-.-.-", "go_molecular_function": "GO:0051377 mannose-ethanolamine phosphotransferase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006506 GPI anchor biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "O95427-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15435-1", "uniprot_id": "PP1R7_HUMAN", "mass": 41564.0, "length": 360, "protein_name": "Protein phosphatase 1 regulatory subunit 7", "gene_name": "PPP1R7", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 7 isoform 2", "refseq_ac": "NP_001269338", "gene_names_uniprotkb": "PPP1R7; SDS22", "gene_names_refseq": "PPP1R7; SDS22", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 7; Protein phosphatase 1 regulatory subunit 22", "protein_names_refseq": "protein phosphatase 1 regulatory subunit 22; protein phosphatase 1 regulatory subunit 7 isoform 2; protein phosphatase 1, regulatory (inhibitor) subunit 7; testis secretory sperm-binding protein Li 210a", "tax_id": 9606, "disease": "", "pathway": " (hsa:5510)", "pathway_count": 1, "publication_count": 89, "publication_id_list": "10.1101/2023.09.13.557529;10231361;11237011;12042320;12226088;15104674;17630778;18077418;18318008;18452278;19413330;19651622;20068231;20921135;21399659;21406692;23186163;24275569;24714562;25418920;25502872;25576301;26154972;26375851;26728094;26758079;26811146;26929215;26992070;27090790;27397612;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;29786170;29789417;30315122;30379171;30429286;31154438;31217245;31530632;31844290;31848261;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34509645;34932366;35008409;35051231;35154160;35580925;36241641;36284347;37938771;40914422;7498485", "class_list": "", "function": "Human Sds22 is focally deleted and downregulated in multiple carcinomas, and this downregulation correlates with tumor progression, suggesting that sds22 inactivation may contribute to tumorigenesis and metastatic potential, [RefSeq, PubMed]; Regulatory subunit of protein phosphatase 1., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Sds22 and Inhibitor-3 form a heterotrimeric complex with PP1, both in cell lysates and after purification. A pool of PP1 is complexly controlled by both Sds22 and Inhibitor-3., [RefSeq, PubMed]; Sds22 specifically defines protein phosphatase 1 function and localization in mitosis., [RefSeq, PubMed]; This gene encodes a protein subunit that regulates the activity of the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion of the mitotic cycle and for targeting protein phosphatase-1 to mitotic kinetochores. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 8, "reported_glycation": 0, "reported_snv": 14, "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": "B4DFD4;B5MCY6;Q9UQE5;Q9UQE6;Q9Y6K4", "ec_number_list": "", "go_molecular_function": "GO:0019888 protein phosphatase regulator activity;GO:0030234 enzyme regulator activity;GO:0030620 U2 snRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0070062 extracellular exosome;GO:0005694 chromosome", "go_biological_process": "GO:0007059 chromosome segregation;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q15435-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13492-1", "uniprot_id": "PICAL_HUMAN", "mass": 70755.0, "length": 652, "protein_name": "Phosphatidylinositol-binding clathrin assembly protein", "gene_name": "PICALM", "organism": "Human", "refseq_name": "phosphatidylinositol-binding clathrin assembly protein isoform 2", "refseq_ac": "NP_001008660", "gene_names_uniprotkb": "PICALM; CALM", "gene_names_refseq": "CALM; CLTH; LAP; PICALM", "protein_names_uniprotkb": "Phosphatidylinositol-binding clathrin assembly protein; Clathrin assembly lymphoid myeloid leukemia protein", "protein_names_refseq": "clathrin assembly lymphoid myeloid leukemia protein; phosphatidylinositol-binding clathrin assembly protein isoform 2", "tax_id": 9606, "disease": "acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:8301); (R-HSA-432722); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-9696264)", "pathway_count": 5, "publication_count": 359, "publication_id_list": "10097102;10394364;10436022;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10983987;11071885;11076969;11082044;11231140;11237011;11239472;11247302;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11590181;11604418;11694590;11877457;11877461;11889126;11919637;11927540;11940653;11988742;11994746;12057195;12086608;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12717448;12842009;12847086;12944396;12952949;12958364;1317852;14555962;14581451;14617351;14622578;14622579;14662753;14726597;15102850;15134832;15252009;15260957;15318165;15339664;1535555;15473838;15502812;15502813;15649145;15671180;15703209;15728179;15738000;15802264;15895077;15916959;16103228;16155256;16159959;16215232;16262731;16326391;16410077;16459302;16460808;16491119;16516836;16707488;16723738;16798879;16880396;16903783;17018281;17035995;17116749;17158794;17267500;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17713526;17762867;17765681;17978091;18032517;18093523;18166656;18199683;18388313;18452278;1847920;18669648;18775314;18790740;18819912;18981233;18996843;19092055;19140243;19287005;19296720;19458185;19536138;19575674;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20059951;20068231;20112406;20211604;20231386;20351096;20428113;20448150;20811643;20826345;20946875;21102408;2115402;21187331;21278753;21316588;21445324;21482805;21499258;21613550;21779028;21808019;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;2257624;22661428;22815487;22863004;22898188;22942912;23186163;23297414;23481700;23536704;23741335;23823722;23861397;23891661;24067654;24130457;24186068;24275569;24384571;24581490;24680432;24714562;24715725;24746795;24789820;24966051;25107275;25218447;25241929;25303366;25341920;25418920;25576301;25810538;25880248;25892735;25898166;26042225;26154972;26375851;26403691;26811146;26829388;26969432;26992070;27114449;27397612;27574975;27600516;27655845;27846572;27862975;28063628;28218747;28228285;28314751;28510447;28514659;28649982;28657654;28832583;28834231;28904123;2890644;29237092;29242379;29314611;29331515;29351928;29393594;29437277;29485866;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30059200;30315122;30379171;30397120;30410026;30429286;30444036;30484775;30524438;30620550;30779550;30833945;31154438;31217245;31222486;31492838;31844290;31848261;31871319;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33214551;33465208;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34078123;34087483;34171305;3417785;34229054;34509645;34725712;35051231;35132862;35138101;35251023;35254053;35318648;35513511;35561310;35580925;36010968;36240223;36241641;36284347;36552756;36581221;37541260;37938771;38007652;38363532;38665916;39182843;39302247;39531497;39534244;40136647;40307207;40596516;40914422;41350704;6146630;7569928;7822302;7877694;8374173;8524399;8552632;8553074;8643484;8649376;8670264;8837779;9092476;9100026;9169477;9303539;9427626;9428629;9635431;9723620;9736607;9737689;9812899", "class_list": "", "function": "Cytoplasmic adapter protein that plays a critical role in clathrin-mediated endocytosis which is important in processes such as internalization of cell receptors, synaptic transmission or removal of apoptotic cells. Recruits AP-2 and attaches clathrin triskelions to the cytoplasmic side of plasma membrane leading to clathrin-coated vesicles (CCVs) assembly (PubMed:10436022, PubMed:16262731, PubMed:27574975). Furthermore, regulates clathrin-coated vesicle size and maturation by directly sensing and driving membrane curvature (PubMed:25898166). In addition to binding to clathrin, mediates the endocytosis of small R-SNARES (Soluble NSF Attachment Protein REceptors) between plasma membranes and endosomes including VAMP2, VAMP3, VAMP4, VAMP7 or VAMP8 (PubMed:21808019, PubMed:22118466, PubMed:23741335). In turn, PICALM-dependent SNARE endocytosis is required for the formation and maturation of autophagic precursors (PubMed:25241929). Modulates thereby autophagy and the turnover of autophagy substrates such as MAPT/TAU or amyloid precursor protein cleaved C-terminal fragment (APP-CTF) (PubMed:24067654, PubMed:25241929)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PICALM Variation Moderates the Relationships of APOE varepsilon4 with Alzheimer's Disease Cerebrospinal Biomarkers and Memory Function Among Non-Demented Population., [RefSeq, PubMed]; PICALM and Alzheimer's Disease: An Update and Perspectives. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Picalm, a novel regulator of GLUT4-trafficking in adipose tissue., [RefSeq, PubMed]; The Effects of PICALM rs3851179 and Age on Brain Atrophy and Cognition Along the Alzheimer's Disease Continuum., [RefSeq, PubMed]; This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 38, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 38, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 38, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 38, "binding_glycan_count": 0, "secondary_ac_list": "B4DTM3;E9PN05;F8VPG7;O60700;Q4LE54;Q6GMQ6;Q86XZ9", "ec_number_list": "", "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0050750 low-density lipoprotein particle receptor binding;GO:0001540 amyloid-beta binding;GO:0045296 cadherin binding;GO:0048156 tau protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0046579 positive regulation of Ras protein signal transduction;GO:0097753 membrane bending;GO:0006897 endocytosis;GO:0007409 axonogenesis;GO:0007611 learning or memory", "synthesized_glycan_count": 0, "hit_score": 40.0, "record_id": "Q13492-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43808-1", "uniprot_id": "PM34_HUMAN", "mass": 34567.0, "length": 307, "protein_name": "Peroxisomal membrane protein PMP34", "gene_name": "SLC25A17", "organism": "Human", "refseq_name": "peroxisomal membrane protein PMP34 isoform 3", "refseq_ac": "NP_001269656", "gene_names_uniprotkb": "SLC25A17; PMP34", "gene_names_refseq": "PMP34; SLC25A17", "protein_names_uniprotkb": "Peroxisomal membrane protein PMP34; 34 kDa peroxisomal membrane protein; Solute carrier family 25 member 17", "protein_names_refseq": "peroxisomal membrane protein PMP34 isoform 3; peroxisomal membrane protein PMP34; peroxisomal membrane protein, 34kDa), member 17; solute carrier family 25 (mitochondrial carrier", "tax_id": 9606, "disease": "", "pathway": " (hsa:10478); (R-HSA-389599); (R-HSA-9603798)", "pathway_count": 3, "publication_count": 117, "publication_id_list": "10198260;10430017;10468558;10704444;10811639;11121399;11237011;11390669;11402059;11453642;11555634;11590176;11883941;12445829;12751901;12924628;14709540;15007061;15713480;15781447;16186124;16280322;16546181;16756494;16791427;16895967;16980692;17069900;18174172;18477386;18782765;20531392;20554521;20558530;21102411;22185573;22624858;23266187;23460677;23628762;24714562;24715725;25002403;25062251;25502872;25517356;26154972;26777132;26992070;27600516;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28281558;28325759;28446606;28510447;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29632046;29632711;29769354;29786170;30315122;30410026;30484775;31154438;31217245;31530632;31611695;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34357683;34509645;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36241641;37386359;38159891;9166898;9418908;9662422;9874197", "class_list": "", "function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Multiomics data analyses to identify SLC25A17 as a novel biomarker to predict the prognosis and immune microenvironment in head and neck squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; PEX16 mediates the peroxisomal trafficking of two distinct peroxisomal membrane proteins, PEX3 and PMP34, via the endoplasmic reticulum, [RefSeq, PubMed]; Peroxisomal transporter for multiple cofactors like coenzyme A (CoA), flavin adenine dinucleotide (FAD), flavin mononucleotide (FMN) and nucleotide adenosine monophosphate (AMP), and to a lesser extent for nicotinamide adenine dinucleotide (NAD(+)), adenosine diphosphate (ADP) and adenosine 3',5'-diphosphate (PAP). May catalyze the transport of free CoA, FAD and NAD(+) from the cytosol into the peroxisomal matrix by a counter-exchange mechanism., [UniProtKB, PubMed]; The solute carrier SLC25A17 sustains peroxisomal redox homeostasis in diverse mammalian cell lines., [RefSeq, PubMed]; This gene encodes a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8KA59;Q5TFL0;Q9UGW8;Q9UGY7", "ec_number_list": "", "go_molecular_function": "GO:0051087 protein-folding chaperone binding;GO:0015297 antiporter activity;GO:0000295 adenine nucleotide transmembrane transporter activity;GO:0005347 ATP transmembrane transporter activity;GO:0015217 ADP transmembrane transporter activity", "go_cellular_component": "GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006635 fatty acid beta-oxidation;GO:0015908 fatty acid transport;GO:0001561 fatty acid alpha-oxidation;GO:0015867 ATP transport;GO:1901679 nucleotide transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "O43808-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y4C0-1", "uniprot_id": "NRX3A_HUMAN", "mass": 180599.0, "length": 1643, "protein_name": "Neurexin-3", "gene_name": "NRXN3", "organism": "Human", "refseq_name": "neurexin 3 isoform 1", "refseq_ac": "NP_004787", "gene_names_uniprotkb": "NRXN3; C14orf60; KIAA0743", "gene_names_refseq": "C14orf60; NRXN3", "protein_names_uniprotkb": "Neurexin-3; Neurexin III-alpha; Neurexin-3-alpha", "protein_names_refseq": "neurexin 3 isoform 1; neurexin III; neurexin-3-alpha", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:9369); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11604393;11944992;12379233;15540461;16242404;16624946;16846852;17804423;17897391;18812509;18829961;19926856;20064387;20064388;20519524;21084300;21282647;24715725;25378172;25418920;26929215;28832583;29557506;32157095;32350084;32387766;32938616;33592498;34509645;34647286;35051231;35251023;36010968;39894887;7695896;7736595;8163501;8576240;9069287;9808458;9856994;9927700", "class_list": "", "function": "Association of Nicotine Use Disorder with Neurexin 3 Gene Polymorphisms.', trans 'Nikotin Kullanim Bozuklugunun Neurexin 3 Gen Polimorfizmi ile Iliskisi., [RefSeq, PubMed]; Details of NRXN3's gene structure and variants, and association of NRXN3 SNPs with alcohol dependence GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Identification and characterization of heart-specific splicing of neurexin 3 mRNA, [RefSeq, PubMed]; N-terminal sequencing of cow neurexin III beta provides evidence for signal peptide, [RefSeq, PubMed]; N-terminal sequencing of rat neurexin III alpha provides evidence for signal peptide, [RefSeq, PubMed]; Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May mediate intracellular signaling (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012]., [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": 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": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A6NGR4;A7MD34;O95378;Q8IUE3;Q9NS47;Q9P1V3;Q9P1V6;Q9UIE2;Q9UIE3;Q9ULA5;Q9Y486", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0046872 metal ion binding;GO:0050839 cell adhesion molecule binding;GO:0097109 neuroligin family protein binding;GO:0005246 calcium channel regulator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse;GO:0042734 presynaptic membrane;GO:0098820 trans-synaptic protein complex;GO:0016020 membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0007165 signal transduction;GO:0007612 learning;GO:0030534 adult behavior;GO:0035176 social behavior", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9Y4C0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q76FK4-1", "uniprot_id": "NOL8_HUMAN", "mass": 131616.0, "length": 1167, "protein_name": "Nucleolar protein 8", "gene_name": "NOL8", "organism": "Human", "refseq_name": "nucleolar protein 8 isoform b", "refseq_ac": "NP_001243323", "gene_names_uniprotkb": "NOL8; C9orf34; NOP132", "gene_names_refseq": "C9orf34; NOL8; NOP132; bA62C3.3; bA62C3.4", "protein_names_uniprotkb": "Nucleolar protein 8; Nucleolar protein Nop132", "protein_names_refseq": "nucleolar protein 8 isoform b; nucleolar protein Nop132", "tax_id": 9606, "disease": "", "pathway": " (hsa:55035)", "pathway_count": 1, "publication_count": 66, "publication_id_list": "10.1101/2023.09.13.557529;11237011;14660641;15132771;16963496;17081983;17322306;18452278;18669648;18691976;19007248;19413330;19415658;19651622;19664995;19690332;19691289;20068231;21406692;23186163;23301498;23481700;24275569;24366607;24714562;25218447;25418920;25505266;25576301;26375851;26929215;26992070;28411811;28832583;28904123;29242379;29351928;29557506;29632711;30315122;30429286;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32488085;32502341;32938616;32983136;33298915;33592498;33691108;33968037;34171305;35051231;35494241;35580925;36010968;36241641;40307207;40596516", "class_list": "", "function": "NOL8 binds Ras-related GTP-binding proteins (see MIM 608267) and plays a role in cell growth (Sekiguchi et al., 2004 [PubMed 14660641]).[supplied by OMIM, Mar 2008]., [RefSeq]; Nucleolar protein 132(Nop132) is associated with the GTP form, but not the GDP form, of ras-related GTP binding protein RRAG A, suggesting that RRAG A might regulate Nop132 function, [RefSeq, PubMed]; Plays an essential role in the survival of diffuse-type gastric cancer cells. Acts as a nucleolar anchoring protein for DDX47. May be involved in regulation of gene expression at the post-transcriptional level or in ribosome biogenesis in cancer cells., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 45, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5TCC7;Q5TCC8;Q5TCD3;Q5TCD5;Q5TCD6;Q5TCD7;Q76D35;Q7L3E2;Q9H586;Q9H795;Q9H7W7;Q9H9J6;Q9NWA4;Q9NWM4", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005730 nucleolus", "go_biological_process": "GO:1902570 protein localization to nucleolus;GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q76FK4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q63HM1-1", "uniprot_id": "KFA_HUMAN", "mass": 33992.0, "length": 303, "protein_name": "Kynurenine formamidase", "gene_name": "AFMID", "organism": "Human", "refseq_name": "kynurenine formamidase isoform 2", "refseq_ac": "NP_001010982", "gene_names_uniprotkb": "AFMID", "gene_names_refseq": "AFMID; FKF; KFA; KF", "protein_names_uniprotkb": "Kynurenine formamidase; 3.5.1.9; Arylformamidase; FKF; KFA; KFase; N-formylkynurenine formamidase", "protein_names_refseq": "KFase; N-formylkynurenine formamidase; kynurenine formamidase isoform 2; kynurenine formamidase; probable arylformamidase", "tax_id": 9606, "disease": "", "pathway": " (hsa:125061); (R-HSA-71240)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10049700;10391915;10672018;11237011;12007602;12140278;13069505;15364907;15880762;16376499;16477023;17671174;18056995;18262359;18620547;19338303;21048031;21097500;23478338;26992070;28832583;28904123;29242379;29449409;29557506;29786170;31844290;33912179;33936100;33968037;34087483;35051231;35580925;36284347;37217939;39894887;7514594;7883047;8294935;8666386;9180257", "class_list": "", "function": "A human-specific switch of alternatively spliced AFMID isoforms contributes to TP53 mutations and tumor recurrence in hepatocellular carcinoma Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the hydrolysis of N-formyl-L-kynurenine to L-kynurenine, the second step in the kynurenine pathway of tryptophan degradation. Kynurenine may be further oxidized to nicotinic acid, NAD(H) and NADP(H). Required for elimination of toxic metabolites., [UniProtKB, HAMAP]; Observational study of gene-disease association and gene-environment interaction. (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": 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": "A2RUB3", "ec_number_list": "3.5.1.9", "go_molecular_function": "GO:0004061 arylformamidase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0019441 L-tryptophan catabolic process to kynurenine;GO:0034354 'de novo' NAD+ biosynthetic process from L-tryptophan", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q63HM1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UJW8-1", "uniprot_id": "ZN180_HUMAN", "mass": 79040.0, "length": 692, "protein_name": "Zinc finger protein 180", "gene_name": "ZNF180", "organism": "Human", "refseq_name": "zinc finger protein 180 isoform 3", "refseq_ac": "NP_001265438", "gene_names_uniprotkb": "ZNF180", "gene_names_refseq": "HHZ168; ZNF180", "protein_names_uniprotkb": "Zinc finger protein 180; HHZ168", "protein_names_refseq": "zinc finger protein 180 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:7733); (R-HSA-212436)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10235266;10330177;11237011;11395415;12743021;14519192;15175151;15896744;16606702;16719718;2163759;25218447;25772364;30379171;32161166;35494241;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A0MP75;B2RCN6;B3KV56;K7EQX9;Q58F03;Q9P1U2", "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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9UJW8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P04183-1", "uniprot_id": "KITH_HUMAN", "mass": 25469.0, "length": 234, "protein_name": "Thymidine kinase, cytosolic", "gene_name": "TK1", "organism": "Human", "refseq_name": "thymidine kinase, cytosolic isoform 1", "refseq_ac": "NP_003249", "gene_names_uniprotkb": "TK1", "gene_names_refseq": "TK1", "protein_names_uniprotkb": "Thymidine kinase, cytosolic; 2.7.1.21", "protein_names_refseq": "cytosolic thymidine kinase; epididymis secretory sperm binding protein; thymidine kinase, cytosolic isoform 1; thymidine kinase, cytosolic", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612); cervix carcinoma (Disease Ontology:DOID:2893); lung non-small cell carcinoma (Disease Ontology:DOID:3908)", "pathway": " (hsa:7083); (R-HSA-69205); (R-HSA-73614)", "pathway_count": 3, "publication_count": 139, "publication_id_list": "10228158;10454584;10597240;1063125;10692433;11237011;11306702;11959842;11988738;12199906;12429345;12435275;12782299;12808445;12849978;1406603;14609716;14697231;14701726;14725767;14990995;15014447;15130468;15510213;15611477;15689149;15733844;1590793;1597187;16408927;16964243;17322306;17407781;18669648;18691976;18767875;19291308;19413330;19415658;195585;19651622;19664995;1996353;20068231;2026611;20722631;22223895;22385435;23186163;23301498;24366607;24714562;24715725;25003822;2539852;2542307;2548513;25576301;26154972;26992070;27600516;27846572;27920218;28228285;2844225;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29789417;30315122;30779550;30833945;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32387766;32488085;32502341;32938616;3301530;33141586;33214551;33298915;3335503;33592498;33717175;3372530;33936100;33968037;33981976;34019948;34171305;34211107;34229054;34357683;34932366;35580925;36010968;36241641;36581221;36982234;37340703;37673047;37715794;3785218;37938771;38033034;40307207;40596516;6549046;7284378;7488099;7623816;7923172;7929342;8114698;8288595;8340387;8618861;8943353;9020173;9520412;9575153;9662327;9778043;9804782;9989599", "class_list": "", "function": "Cell-cycle-regulated enzyme of importance in nucleotide metabolism (PubMed:9575153). Catalyzes the first enzymatic step in the salvage pathway converting thymidine into thymidine monophosphate (PubMed:22385435). Transcriptional regulation limits expression to the S phase of the cell cycle and transient expression coincides with the oscillation in the intracellular dTTP concentration (Probable). Also important for the activation of anticancer and antiviral nucleoside analog prodrugs such as 1-b-d-arabinofuranosylcytosine (AraC) and 3c-azido-3c-deoxythymidine (AZT) (PubMed:22385435)., [UniProtKB, PubMed, PubMed, PubMed]; Clinical Significance of the TK1-Specific Activity in the Early Detection of Ovarian Cancer. Erratum:[Oncology. 2023;101(12):843. doi: 10.1159/000534436. PMID: 37903463], [RefSeq, PubMed]; Prediction of Overall Survival by Thymidine Kinase 1 Combined with Prostate-Specific Antigen in Men with Prostate Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; TK1 expression influences pathogenicity by cell cycle progression, cellular migration, and cellular survival in HCC 1806 breast cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; The enzymatic function at the G2/M phase of TK1 depends on its quaternary structure, [RefSeq, PubMed]; The protein encoded by this gene is a cytosolic enzyme that catalyzes the addition of a gamma-phosphate group to thymidine. This creates dTMP and is the first step in the biosynthesis of dTTP, which is one component required for DNA replication. The encoded protein, whose levels fluctuate depending on the cell cycle stage, can act as a low activity dimer or a high activity tetramer. High levels of this protein have been used as a biomarker for diagnosing and categorizing many types of cancers. [provided by RefSeq, Oct 2016]., [RefSeq]; Transcription factor Dp-1 knockdown downregulates thymidine kinase 1 expression to protect against proliferation and epithelial-mesenchymal transition in cervical cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 4, "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": "B2RC58;Q969V0;Q9UMG9", "ec_number_list": "2.7.1.74;2.7.1.21;2.7.1.-", "go_molecular_function": "GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0004797 thymidine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0046105 thymidine biosynthetic process;GO:0046104 thymidine metabolic process;GO:0051289 protein homotetramerization;GO:0006139 nucleobase-containing compound metabolic process;GO:1904860 DNA synthesis involved in mitotic DNA replication", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "P04183-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q12756-1", "uniprot_id": "KIF1A_HUMAN", "mass": 191064.0, "length": 1690, "protein_name": "Kinesin-like protein KIF1A", "gene_name": "KIF1A", "organism": "Human", "refseq_name": "kinesin-like protein KIF1A isoform 1", "refseq_ac": "NP_001230937", "gene_names_uniprotkb": "KIF1A; ATSV; C2orf20", "gene_names_refseq": "ATSV; C2orf20; HSN2C; KIF1A; MRD9; NESCAVS; SPG30A; SPG30B; SPG30; UNC104", "protein_names_uniprotkb": "Kinesin-like protein KIF1A; 5.6.1.3; Axonal transporter of synaptic vesicles; Microtubule-based motor KIF1A; Unc-104- and KIF1A-related protein; hUnc-104", "protein_names_refseq": "axonal transporter of synaptic vesicles; kinesin, heavy chain, member 1A, homolog of mouse; kinesin-like protein KIF1A isoform 1; kinesin-like protein KIF1A; microtubule-based motor KIF1A; unc-104- and KIF1A-related protein", "tax_id": 9606, "disease": "hereditary sensory and autonomic neuropathy (Disease Ontology:DOID:0050548); synucleinopathy (Disease Ontology:DOID:0050890); NESCAV syndrome (Disease Ontology:DOID:0070039); hereditary sensory neuropathy type 2C (Disease Ontology:DOID:0070147); hereditary spastic paraplegia 30B (Disease Ontology:DOID:0070646); hereditary spastic paraplegia 30A (Disease Ontology:DOID:0070647); Graves ophthalmopathy (Disease Ontology:DOID:0081120); hereditary spastic paraplegia 30 (Disease Ontology:DOID:0110781); hereditary spastic paraplegia (Disease Ontology:DOID:2476); nervous system disease (Disease Ontology:DOID:863)", "pathway": " (hsa:547); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 3, "publication_count": 180, "publication_id_list": "10052452;10318838;10445031;10559959;10761932;10921873;11172815;11237011;11493604;11689559;11703931;11726511;11739780;11748249;11782313;12047556;12070132;12368902;1406973;14504276;14654841;15029241;15037235;15272311;15326200;15616190;15632110;15813748;16030262;1607388;16262723;1631136;16571679;16633337;1680566;16912714;16926190;16940185;17113389;17253781;17346968;17360540;17429068;17451557;17538014;17760859;17927562;17956946;18182008;18287528;18342609;18452278;18510355;18524849;18809720;1898986;19015319;19109418;19116309;19151722;19164740;19338388;19369418;1957170;19631211;19664994;19758564;20005805;20068231;20136777;20357002;20427317;20462495;20534429;20637885;21219331;21376300;21406692;2142332;21487076;21550981;21689688;21820098;21844168;22013193;22094269;22258533;22304919;22863567;22898188;23396477;24715725;2521221;2522352;25253658;25265257;25364732;25436559;25492864;25576301;25585697;25645385;26125038;26354034;26410750;26486474;26768311;26992070;27034427;27846572;27920218;28514659;28832565;28832583;28834231;28834584;29159194;29242379;29393594;29557506;29786170;29934652;30021165;30429286;30484775;30833945;31154438;31222486;3130248;3134048;31488895;31796088;31805580;31844290;31848261;31998317;32096284;32157095;32161166;32652677;32928873;33298915;33592498;33880452;33912179;34087483;34171305;34405274;35051231;35132656;36010968;36284347;37668235;37938771;38105687;38785164;39505875;7528108;7539720;7822426;7844144;7929562;8001155;8128252;8132710;8221884;8253837;8505331;8548803;8599929;8602245;8620540;8661001;9114004;9177194;9244307;9288971;9405360;9751720;9990005", "class_list": "", "function": "Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients. Publication Status: Online-Only, [RefSeq, PubMed]; Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder., [RefSeq, PubMed]; KIF1A promotes neuroendocrine differentiation in prostate cancer by regulating the OGT-mediated O-GlcNAcylation. Publication Status: Online-Only, [RefSeq, PubMed]; Kinesin motor with a plus-end-directed microtubule motor activity (By similarity). It is required for anterograde axonal transport of synaptic vesicle precursors (PubMed:33880452). Also required for neuronal dense core vesicles (DCVs) transport to the dendritic spines and axons. The interaction calcium-dependent with CALM1 increases vesicle motility and interaction with the scaffolding proteins PPFIA2 and TANC2 recruits DCVs to synaptic sites., [UniProtKB, UniProtKB, UniProtKB, PubMed]; The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]., [RefSeq]; [KIF1A gene-associated neurological disease: the correlation between genotype and phenotype]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "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": 10, "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": "B0I1S5;F5H045;O95068;Q13355;Q14752;Q2NKJ6;Q4LE42;Q53T78;Q59GH1;Q63Z40;Q6P1R9;Q7KZ57", "ec_number_list": "3.6.5.-;5.6.1.3;3.6.5.2;3.6.4.-", "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0098992 neuronal dense core vesicle;GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0030424 axon;GO:0030425 dendrite", "go_biological_process": "GO:0016192 vesicle-mediated transport;GO:0008089 anterograde axonal transport;GO:0060998 regulation of dendritic spine development;GO:0061001 regulation of dendritic spine morphogenesis;GO:1990048 anterograde neuronal dense core vesicle transport", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "Q12756-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NR77-1", "uniprot_id": "PXMP2_HUMAN", "mass": 22253.0, "length": 195, "protein_name": "Peroxisomal membrane protein 2", "gene_name": "PXMP2", "organism": "Human", "refseq_name": "peroxisomal membrane protein 2", "refseq_ac": "NP_061133", "gene_names_uniprotkb": "PXMP2; PMP22", "gene_names_refseq": "MPV17L3; PMP22; PXMP2", "protein_names_uniprotkb": "Peroxisomal membrane protein 2; 22 kDa peroxisomal membrane protein", "protein_names_refseq": "22 kDa peroxisomal membrane protein; peroxisomal membrane protein 2, 22kDa; peroxisomal membrane protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:5827); (R-HSA-389661); (R-HSA-9603798)", "pathway_count": 3, "publication_count": 104, "publication_id_list": "10430017;10484776;10524214;10704444;10777549;10978532;11237011;11390669;11402059;11453642;11590176;11883941;12751901;12865426;12899834;12924628;13681368;13681370;14170323;14709540;15007061;15340920;15713480;15781447;15802217;1601857;16280322;16616139;16683188;16791427;16895967;16980692;1703535;17069900;17088322;17669354;18174172;18215067;18782765;19352492;20018850;20531392;20554521;20603179;21102411;2158891;21998747;22516612;22624858;23460677;23628762;2363689;25062251;25418920;25517356;25576301;25645385;25697095;25747990;25880248;26375851;26777132;26858947;26992070;27600516;27846572;27862975;28228285;28281558;28325759;28832583;28904123;29242379;29331515;29508533;29557506;29632046;29789417;29930882;30315122;30429286;30779550;31129117;31844290;32157095;32265295;32357974;32387766;32502341;33592498;33691108;33981976;3416563;34932366;35051231;35318648;35580925;36010968;36241641;500817;6250440;9163533;9418908;9820813", "class_list": "", "function": "Authors provide evidence that PXMP2 is not essential for H2O2 permeation across the peroxisomal membrane, neither in control cells nor in cells lacking PEX11B, a peroxisomal membrane-shaping protein whose yeast homologue facilitates the permeation of molecules up to 400Da., [RefSeq, PubMed]; Seems to be involved in pore-forming activity and may contribute to the unspecific permeability of the peroxisomal 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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:0005778 peroxisomal membrane;GO:0005829 cytosol;GO:0016020 membrane;GO:0032991 protein-containing complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q9NR77-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16236-1", "uniprot_id": "NF2L2_HUMAN", "mass": 67827.0, "length": 605, "protein_name": "Nuclear factor erythroid 2-related factor 2", "gene_name": "NFE2L2", "organism": "Human", "refseq_name": "nuclear factor erythroid 2-related factor 2 isoform 2", "refseq_ac": "NP_001138884", "gene_names_uniprotkb": "NFE2L2; NRF2", "gene_names_refseq": "IMDDHH; NFE2L2; NRF2; Nrf-2", "protein_names_uniprotkb": "Nuclear factor erythroid 2-related factor 2; NF-E2-related factor 2; NFE2-related factor 2; Nrf-2; Nuclear factor, erythroid derived 2, like 2", "protein_names_refseq": "nuclear factor erythroid 2-related factor 2 isoform 2; nuclear factor erythroid 2-related factor 2; nuclear factor erythroid-derived 2-like 2; nuclear factor, erythroid 2 like 2", "tax_id": 9606, "disease": "alcohol-associated liver disease (Disease Ontology:DOID:0070658); immunodeficiency, developmental delay, and hypohomocysteinemia (Disease Ontology:DOID:0070747); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); traumatic brain injury (Disease Ontology:DOID:0081292); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); Huntington's disease (Disease Ontology:DOID:12858); extrahepatic cholestasis (Disease Ontology:DOID:13619); asthma (Disease Ontology:DOID:2841); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); middle cerebral artery infarction (Disease Ontology:DOID:3525); pulmonary fibrosis (Disease Ontology:DOID:3770); tuberculosis (Disease Ontology:DOID:399); macular degeneration (Disease Ontology:DOID:4448); liver cirrhosis (Disease Ontology:DOID:5082); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); chronic kidney disease (Disease Ontology:DOID:784); cataract (Disease Ontology:DOID:83); diabetic retinopathy (Disease Ontology:DOID:8947); visceral leishmaniasis (Disease Ontology:DOID:9146); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary emphysema (Disease Ontology:DOID:9675); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:4780); (R-HSA-8951664); (R-HSA-9679191); (R-HSA-9707587); (R-HSA-9707616); (R-HSA-9755511); (R-HSA-9759194); (R-HSA-9762114); (R-HSA-9818025); (R-HSA-9818026); (R-HSA-9818027); (R-HSA-9818028); (R-HSA-9818030); (R-HSA-9818032); (R-HSA-9818035); (R-HSA-9818749); (R-HSA-9909649); (R-HSA-9943962)", "pathway_count": 18, "publication_count": 439, "publication_id_list": "10087012;10198158;10381560;10535940;10597293;10706635;10733945;10811609;10821856;10878807;10921920;10973499;11035812;11069780;11237011;11256947;11259415;11274398;11292861;11292862;11309284;11356022;11387216;11454738;11507205;11585840;11733065;11744694;11940647;11961546;12101228;12130498;12186903;12198130;12234984;12235164;12356737;12504025;12504026;12506115;12511571;12526791;12538644;12609982;12682069;12700136;12759363;12816948;12947090;14517290;14585973;14688281;14690597;14757770;14764894;15110384;15175654;15282312;15361859;15367669;15448164;15520857;15537541;15572695;15574592;15590625;15601839;15652483;15665827;15688063;15694336;15728556;15761026;15799966;15960975;15983046;16095617;16115318;16171779;16220540;16286508;16314513;16359182;16401342;16522641;16547496;16551619;16647857;16707496;16790436;16878130;16888629;16943200;16949368;16962933;17027977;17081101;17132228;17143291;17183367;17220875;17234762;17332328;17350655;17430897;17497243;17512459;17603073;17662961;17785452;17925401;17942419;17975675;17979524;18006707;18037887;18093314;18206966;18238777;18273910;18378692;18387606;18775313;18776931;18805092;18826954;18851830;18926707;19028565;19088198;19250909;19273602;19321346;19424503;19489739;19608619;19617556;19668370;19710360;19748355;19920073;20068231;20223979;20378532;20452972;20453063;20460467;20495340;20581824;20628156;20682644;20817722;21087962;21196497;21220506;21245377;21391649;21447816;21463634;21479263;21597468;21734707;21775727;21778237;21863050;21899694;21940857;22125611;22142471;22275372;22302998;22306028;22401777;22466964;22537386;22552008;22558124;22581777;22667998;22751928;22789539;22814904;22869377;22872865;22904695;22959436;22964642;22965115;22995213;23027624;23077289;23186163;23201271;23274085;23275004;23285124;23333871;23401859;23408615;23434765;23453757;23481700;23535662;23535663;23563313;23583660;23641311;23667609;23864927;23912815;23986495;24011591;24029068;24041992;24076655;24203292;24272870;24298019;24366543;24366607;24463449;24584101;24636985;24714562;24715725;24793695;24793696;24921206;24958774;25002527;25040165;25236495;25314029;25340789;25349122;25349211;25355947;2539258;25418920;25505069;25531226;25576301;25645385;25793262;25801024;25857617;25880248;25907366;25909891;25921531;25995248;26002965;26117325;26154972;26344709;26375851;26460955;26482881;26583321;26632597;26699938;26906416;26942676;26992070;27030794;27100828;27161318;27222660;27565346;27588483;27600516;27621679;27653015;27680214;27744118;27754849;27756681;27846572;27920218;28061443;28111073;28112439;28115426;28151479;28202606;28228285;28380357;28425720;28442712;28446606;28533432;28604588;28638475;28724916;28739801;28832583;28842501;28904123;28974696;28985506;29018201;29153394;29155886;29230104;29233872;29242379;29253569;29450944;29493099;29526543;29557506;29590092;29632046;29693710;29709474;29717933;29874784;29887940;29945920;29959055;29983246;30037352;30069011;30158636;30201761;30315122;30385408;30429286;30533198;30610225;30662338;30703377;30776542;30779550;30833945;31048504;31154438;31191797;31217245;31221981;31222486;31398338;31530632;31546975;31597407;31748741;31771235;31781326;31817532;31844290;31848261;31989830;32005965;32110852;32121537;32157095;32161166;32183950;32256951;32284348;32293500;32303435;32322337;32336239;32354867;32357974;32387766;32488085;32502341;32582032;32601262;32640524;32649885;32672401;32695117;32708958;32811823;32860047;32863217;32897882;32938616;32983136;33009401;33043019;33064660;33087717;33123756;33298915;33381502;33444648;3345742;33462411;33592498;33691108;33717175;33764436;33774477;33791708;33801351;33859744;33875681;33912179;33916908;33968037;33981976;34087483;34171305;34561969;34918396;34932366;35051231;35071413;35318648;35580925;36010968;36241641;36284347;36458309;37938771;38097051;39113713;39230563;39244752;39276458;39358921;39407193;39901237;6261960;7937919;7959763;8415693;8622974;8887638;9079689;9144434;9240432;9790970;9887101;9891082", "class_list": "", "function": "Leishmania infantum exploits the anti-ferroptosis effects of Nrf2 to escape cell death in macrophages., [RefSeq, PubMed]; MCM4 potentiates evasion of hepatocellular carcinoma from sorafenib-induced ferroptosis through Nrf2 signaling pathway., [RefSeq, PubMed]; Modulation of osteoblastogenesis by NRF2: NRF2 activation suppresses osteogenic differentiation and enhances mineralization in human bone marrow-derived mesenchymal stromal cells., [RefSeq, PubMed]; NRF2-HIF2alpha Signaling Attenuates Endothelial Cell Senescence and Maintains Intercellular Junctions in Diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; Nrf2/Keap1/ARE regulation by plant secondary metabolites: a new horizon in brain tumor management. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. Multiple transcript variants encoding different isoforms have been characterized for this gene. [provided by RefSeq, Sep 2015]., [RefSeq]; Transcription factor that plays a key role in the response to oxidative stress: binds to antioxidant response (ARE) elements present in the promoter region of many cytoprotective genes, such as phase 2 detoxifying enzymes, and promotes their expression, thereby neutralizing reactive electrophiles (PubMed:11035812, PubMed:19489739, PubMed:29018201, PubMed:31398338). In normal conditions, ubiquitinated and degraded in the cytoplasm by the BCR(KEAP1) complex (PubMed:11035812, PubMed:15601839, PubMed:29018201). In response to oxidative stress, electrophile metabolites inhibit activity of the BCR(KEAP1) complex, promoting nuclear accumulation of NFE2L2/NRF2, heterodimerization with one of the small Maf proteins and binding to ARE elements of cytoprotective target genes (PubMed:19489739, PubMed:29590092). The NFE2L2/NRF2 pathway is also activated in response to selective autophagy: autophagy promotes interaction between KEAP1 and SQSTM1/p62 and subsequent inactivation of the BCR(KEAP1) complex, leading to NFE2L2/NRF2 nuclear accumulation and expression of cytoprotective genes (PubMed:20452972). The NFE2L2/NRF2 pathway is also activated during the unfolded protein response (UPR), contributing to redox homeostasis and cell survival following endoplasmic reticulum stress (By similarity). May also be involved in the transcriptional activation of genes of the beta-globin cluster by mediating enhancer activity of hypersensitive site 2 of the beta-globin locus control region (PubMed:7937919). Also plays an important role in the regulation of the innate immune response and antiviral cytosolic DNA sensing. It is a critical regulator of the innate immune response and survival during sepsis by maintaining redox homeostasis and restraint of the dysregulation of pro-inflammatory signaling pathways like MyD88-dependent and -independent and TNF signaling (By similarity). Suppresses macrophage inflammatory response by blocking pro-inflammatory cytokine transcription and the induction of IL6 (By similarity). Binds to the proximity of pro-inflammatory genes in macrophages and inhibits RNA Pol II recruitment. The inhibition is independent of the NRF2-binding motif and reactive oxygen species level (By similarity). Represses antiviral cytosolic DNA sensing by suppressing the expression of the adapter protein STING1 and decreasing responsiveness to STING1 agonists while increasing susceptibility to infection with DNA viruses (PubMed:30158636). Once activated, limits the release of pro-inflammatory cytokines in response to human coronavirus SARS-CoV-2 infection and to virus-derived ligands through a mechanism that involves inhibition of IRF3 dimerization. Also inhibits both SARS-CoV-2 replication, as well as the replication of several other pathogenic viruses including Herpes Simplex Virus-1 and-2, Vaccinia virus, and Zika virus through a type I interferon (IFN)-independent mechanism (PubMed:33009401)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 9, "reported_glycation": 4, "reported_snv": 79, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 29, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RBU2;B4E338;E9PGJ7;Q53RW6;Q59HH2;Q96F71", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0019904 protein domain specific binding;GO:0031625 ubiquitin protein ligase binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:1904385 cellular response to angiotensin;GO:0046223 aflatoxin catabolic process;GO:1902037 negative regulation of hematopoietic stem cell differentiation;GO:1903788 positive regulation of glutathione biosynthetic process;GO:0002931 response to ischemia", "synthesized_glycan_count": 0, "hit_score": 44.2, "record_id": "Q16236-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86YT5-1", "uniprot_id": "S13A5_HUMAN", "mass": 63062.0, "length": 568, "protein_name": "Na(+)/citrate cotransporter", "gene_name": "SLC13A5", "organism": "Human", "refseq_name": "Na(+)/citrate cotransporter isoform b", "refseq_ac": "NP_001137310", "gene_names_uniprotkb": "SLC13A5; NACT", "gene_names_refseq": "DEE25; EIEE25; INDY; NACT; SLC13A5; mIndy", "protein_names_uniprotkb": "Na(+)/citrate cotransporter; NaCT; Sodium-coupled citrate transporter; Sodium-dependent citrate transporter; Solute carrier family 13 member 5", "protein_names_refseq": "Na(+)/citrate cotransporter isoform b; Na(+)/citrate cotransporter; Na+-coupled citrate transporter protein; mammalian INDY homolog; sodium-dependent dicarboxylate transporter; solute carrier family 13 (sodium-dependent citrate transporter), member 5", "tax_id": 9606, "disease": "alcohol-related neurodevelopmental disorder (Disease Ontology:DOID:0050667); developmental and epileptic encephalopathy 25 (Disease Ontology:DOID:0080453); Kohlschutter-Tonz syndrome (Disease Ontology:DOID:0111668); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:284111); (R-HSA-9955298)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "10794676;11237011;12445824;12826022;16973915;19159218;24715725;24995870;25418920;26324167;26384929;29557506;30054523;31154438;32983136;33597751;34323067;34525352;35051231;36284347;37689798;38113697;39622972;8967342", "class_list": "", "function": "Expression and function of NaCT in a cell line and in primary hepatocytes., [RefSeq, PubMed]; High-affinity sodium/citrate cotransporter that mediates the entry of citrate into cells, which is a critical participant of biochemical pathways (PubMed:12445824, PubMed:12826022, PubMed:26324167, PubMed:26384929, PubMed:30054523, PubMed:33597751, PubMed:39622972). May function in various metabolic processes in which citrate has a critical role such as energy production (Krebs cycle), fatty acid synthesis, cholesterol synthesis, glycolysis, and gluconeogenesis (PubMed:12826022). Transports citrate into the cell in a Na(+)-dependent manner, recognizing the trivalent form of citrate (physiological pH) rather than the divalent form (PubMed:12445824, PubMed:12826022, PubMed:26324167, PubMed:26384929, PubMed:30054523, PubMed:33597751, PubMed:39622972). Can recognize succinate as a substrate, but its affinity for succinate is several fold lower than for citrate (PubMed:26324167). The stoichiometry is probably 4 Na(+) for each carboxylate, irrespective of whether the translocated substrate is divalent or trivalent, rendering the process electrogenic (PubMed:12445824, PubMed:12826022, PubMed:39622972). Involved in the regulation of citrate levels in the brain (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Mediates the utilization of extracellular citrate for fat synthesis in human liver cells, and that the process is stimulated by lithium, [RefSeq, PubMed]; NaCT/SLC13A5 facilitates citrate import and metabolism under nutrient-limited conditions., [RefSeq, PubMed]; Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy., [RefSeq, PubMed]; Regulation on Citrate Influx and Metabolism through Inhibiting SLC13A5 and ACLY: A Novel Mechanism Mediating the Therapeutic Effects of Curcumin on NAFLD., [RefSeq, PubMed]; Screening of 68 additional unrelated individuals with early-onset epileptic encephalopathy for SLC13A5 mutations led to identification of one additional subject with heterozygous mutations of SLC13A5 and a similar clinical presentation as index subjects, [RefSeq, PubMed]; The citrate transporters SLC13A5 and SLC25A1 elicit different metabolic responses and phenotypes in the mouse. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]., [RefSeq]; This paper describes the cloning and functional characterization of the human Na(+)-coupled citrate transporter (NaCT)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 14, "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": "B3KXR0;B7Z4P2;B7ZLB4;F8W7N2;Q6ZMG1", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0015137 citrate transmembrane transporter activity;GO:0017153 sodium:dicarboxylate symporter activity;GO:0005343 organic acid:sodium symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0055085 transmembrane transport;GO:0015711 organic anion transport;GO:0015746 citrate transport;GO:0071285 cellular response to lithium ion;GO:0015742 alpha-ketoglutarate transport", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q86YT5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZD2-1", "uniprot_id": "KMT2E_HUMAN", "mass": 204965.0, "length": 1858, "protein_name": "Histone reader KMT2E", "gene_name": "KMT2E", "organism": "Human", "refseq_name": "inactive histone-lysine N-methyltransferase 2E isoform a", "refseq_ac": "NP_061152", "gene_names_uniprotkb": "KMT2E; MLL5", "gene_names_refseq": "HDCMC04P; KMT2E; MLL5; NKp44L; ODLURO; SETD5B", "protein_names_uniprotkb": "Histone reader KMT2E; Inactive histone-lysine N-methyltransferase 2E; Inactive lysine N-methyltransferase 2E; Myeloid/lymphoid or mixed-lineage leukemia protein 5", "protein_names_refseq": "histone-lysine N-methyltransferase 2E; histone-lysine N-methyltransferase MLL5; inactive histone-lysine N-methyltransferase 2E isoform a; inactive histone-lysine N-methyltransferase 2E; inactive lysine N-methyltransferase 2E; lysine (K)-specific methyltransferase 2E; myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila); myeloid/lymphoid or mixed-lineage leukemia protein 5", "tax_id": 9606, "disease": "acute promyelocytic leukemia (Disease Ontology:DOID:0060318); prostate cancer (Disease Ontology:DOID:10283); autistic disorder (Disease Ontology:DOID:12849); breast cancer (Disease Ontology:DOID:1612); cervical cancer (Disease Ontology:DOID:4362); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); O'Donnell-Luria-Rodan syndrome (MONDO:MONDO:0032793)", "pathway": " (hsa:55904)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "11237011;12101424;14718661;17081983;18231586;18452278;18573682;19264965;19377461;20439461;23186163;23481700;23629655;23798402;23958951;24130829;24366607;24715725;25576301;25670814;26154972;26375851;26678539;26992070;27812132;27846572;27862975;27920218;28218747;28514659;28832583;28904123;29242379;29493099;29508533;29557506;29632711;29786170;30315122;30379171;30429286;30484775;30524438;30620550;30779550;31079897;31844290;32157095;32357974;32387766;32488085;32502341;32691224;32897882;32938616;32983136;33050986;33111303;33123756;33141586;33298915;33592498;33691108;33717175;33824267;33912179;33936100;33968037;34171305;34211107;34509645;34932366;35051231;35318648;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "Associates with chromatin regions downstream of transcriptional start sites of active genes and thus regulates gene transcription (PubMed:23629655, PubMed:23798402, PubMed:24130829). Chromatin interaction is mediated via the binding to tri-methylated histone H3 at 'Lys-4' (H3K4me3) (PubMed:23798402, PubMed:24130829). Key regulator of hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic stem cell (HSCs) self-renewal by a mechanism that involves DNA methylation (By similarity). Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages including G1/S transition, S phase progression and mitotic entry (PubMed:14718661, PubMed:18573682, PubMed:19264965, PubMed:23629655). Recruited to E2F1 responsive promoters by HCFC1 where it stimulates tri-methylation of histone H3 at 'Lys-4' and transcriptional activation and thereby facilitates G1 to S phase transition (PubMed:23629655). During myoblast differentiation, required to suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Cellular ligand for NCR2/NKp44, may play a role as a danger signal in cytotoxicity and NK-cell-mediated innate immunity., [UniProtKB, PubMed]; Clinical Characteristics and Genotype-Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature. Review article, [RefSeq, PubMed]; MLL5 forms intranuclear protein complexes that may play an important role in chromatin remodeling and cellular growth suppression., [RefSeq, PubMed]; MLL5 improves ATRA driven differentiation and promotes xenotransplant engraftment in acute promyelocytic leukemia model. Publication Status: Online-Only, [RefSeq, PubMed]; MLL5 is a homolog of Drosophila trithorax located within a segment of chromosome band 7q22 implicated in myeloid leukemia., [RefSeq, PubMed]; MLL5 protein has been classified into a distinct subfamily with SETD5, because its SET domain and domain architecture show high homology with SETD5 rather than the members in MLL subfamily (i.e. MLL, MLL2, MLL3 and MLL4) Publication Status: Online-Only, [RefSeq, PubMed]; MLL5, a histone modifying enzyme, regulates androgen receptor activity in prostate cancer cells by recruiting co-regulators, HCF1 and SET1., [RefSeq, PubMed]; ODLURO syndrome: personal experience and review of the literature. Review article, [RefSeq, PubMed]; This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 11, "predicted_n_glycosites": 0, "predicted_o_glycosites": 11, "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": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 14, "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": 1, "reported_phosphosites": 9, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 80, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 25, "binding_glycan_count": 0, "secondary_ac_list": "B6ZDE4;B6ZDM3;M4K8J3;Q6P5Y2;Q6PKG4;Q6T316;Q86TI3;Q86W12;Q86WG0;Q86WL2;Q8IV78;Q8IWR5;Q8NFF8;Q9NWE7", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0140002 histone H3K4me3 reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0002446 neutrophil mediated immunity;GO:0006355 regulation of DNA-templated transcription;GO:0030218 erythrocyte differentiation;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q8IZD2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75251-1", "uniprot_id": "NDUS7_HUMAN", "mass": 23564.0, "length": 213, "protein_name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial", "gene_name": "NDUFS7", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform 1", "refseq_ac": "NP_077718", "gene_names_uniprotkb": "NDUFS7", "gene_names_refseq": "CI-20KD; CI-20; MC1DN3; MY017; NDUFS7; PSST", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial; 7.1.1.2; CI-20kD; Complex I-20kD; NADH-ubiquinone oxidoreductase 20 kDa subunit; PSST subunit", "protein_names_refseq": "NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase); NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform 1; NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial; NADH-coenzyme Q reductase; NADH-ubiquinone oxidoreductase 20 kDa subunit; NADH:ubiquinone oxidoreductase PSST subunit; complex I 20kDa subunit; complex I, mitochondrial respiratory chain, 20-KD subunit; complex I-20kD", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); mitochondrial complex I deficiency (Disease Ontology:DOID:0060536); nuclear type mitochondrial complex I deficiency 3 (Disease Ontology:DOID:0112093); bipolar disorder (Disease Ontology:DOID:3312)", "pathway": " (hsa:374291); (R-HSA-611105); (R-HSA-6799198)", "pathway_count": 3, "publication_count": 99, "publication_id_list": "10327278;10330338;10360771;11220739;11237011;11695836;12231006;12611891;12837546;1327877;14741580;15250827;16230336;17033964;17275378;17936786;186667;19531498;19752196;20406883;20552642;20858599;21924235;23150584;23270816;23481700;23553477;23564345;23747254;239860;24191001;25418920;25564869;25576301;25678554;26154972;26929215;26992070;27226634;27397612;27499296;27600516;27626371;27862975;27920218;28218747;28228285;28510447;28832583;28834231;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30429286;31666358;31844290;31866046;32157095;32265295;32320651;32357974;32387766;32488085;32502341;32870666;32897882;32938616;32983136;33141586;33298915;33392160;33879611;33882309;33936100;33968037;33981976;34211107;34932366;35051231;35083852;35333655;35580925;35614220;36284347;36581221;37938771;38199007;38823363;4288886;8938450;9571201;9878551", "class_list": "", "function": "Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:17275378). Essential for the catalytic activity of complex I (PubMed:17275378)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; SLC7A11-mediated cystine import protects against NDUFS7 deficiency-induced cell death in HEK293T cells., [RefSeq, PubMed]; This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [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": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KRI2;Q2T9H7;Q9BV17", "ec_number_list": "7.1.1.2;3.6.4.10;2.1.1.-;1.-.-.-;2.1.1.320;1.3.8.7;1.3.8.8", "go_molecular_function": "GO:0002020 protease binding;GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0008137 NADH dehydrogenase (ubiquinone) activity;GO:0048038 quinone binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0043025 neuronal cell body;GO:0097060 synaptic membrane", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0009060 aerobic respiration;GO:0015990 electron transport coupled proton transport", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "O75251-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92617-1", "uniprot_id": "NPIB3_HUMAN", "mass": 116847.0, "length": 1050, "protein_name": "Nuclear pore complex-interacting protein family member B3", "gene_name": "NPIPB3", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "NPIPB3; KIAA0220; NPIPL3", "gene_names_refseq": "", "protein_names_uniprotkb": "Nuclear pore complex-interacting protein family member B3; Nuclear pore complex-interacting protein-like 3; Protein pps22-1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-9692916)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;15208624;17035307;17270291;17412287;17596301;17761676;19380580;19398035;22046132;22253733;22312431;23483519;24509444;24622840;24854014;25135833;25764917;25907116;26320399;26378163;27164085;27203180;28148787;29294448;30185776;31034780;31231549;32728199;33060197;33298915;34509645;35051231;39894887;9989503", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O43332;Q504Q6;Q59F29;Q6GMR1;Q6P7T2;Q6PIE2;Q6RH21", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q92617-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H4I2-1", "uniprot_id": "ZHX3_HUMAN", "mass": 104658.0, "length": 956, "protein_name": "Zinc fingers and homeoboxes protein 3", "gene_name": "ZHX3", "organism": "Human", "refseq_name": "zinc fingers and homeoboxes protein 3 isoform a", "refseq_ac": "NP_055850", "gene_names_uniprotkb": "ZHX3; KIAA0395; TIX1", "gene_names_refseq": "TIX1; ZHX3", "protein_names_uniprotkb": "Zinc fingers and homeoboxes protein 3; Triple homeobox protein 1; Zinc finger and homeodomain protein 3", "protein_names_refseq": "triple homeobox 1; triple homeobox protein 1; zinc finger and homeodomain protein 3; zinc fingers and homeoboxes protein 3 isoform a; zinc fingers and homeoboxes protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:23051)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "11237011;12659632;14659886;15302935;18452278;18669648;19413330;19690332;20058876;20068231;21174497;23186163;24275569;25576301;25645385;25892735;26154972;26992070;28152006;28657654;28904123;29237092;29557506;30059200;30429286;30620550;30833945;31154438;31217245;31222486;31492838;31530632;31844290;32157095;32488085;32502341;32574038;32938616;32938750;33141586;33214551;33440047;33592498;33717175;33912179;33968037;34019948;34087483;34171305;34846842;34932366;35051231;35085309;35132862;35254053;35289036;35318648;35513511;35580925;35705054;36010968;36240223;36284347;37340703;37541260;37938771;38665916;39302247;39531497;40307207;40596516", "class_list": "", "function": "Acts as a transcriptional repressor. Involved in the early stages of mesenchymal stem cell (MSC) osteogenic differentiation. Is a regulator of podocyte gene expression during primary glomerula disease. Binds to promoter DNA., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Dimerizes with both ZHX1 and ZHX3, also interacts with the activation domain of the NF-YA, [RefSeq, PubMed]; Loss of the transcription repressor ZHX3 induces senescence-associated gene expression and mitochondrial-nucleolar activation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the zinc fingers and homeoboxes (ZHX) gene family. The encoded protein contains two C2H2-type zinc fingers and five homeodomains and forms a dimer with itself or with zinc fingers and homeoboxes family member 1. In the nucleus, the dimerized protein interacts with the A subunit of the ubiquitous transcription factor nuclear factor-Y and may function as a transcriptional repressor. [provided by RefSeq, Jul 2008]., [RefSeq]; ZHX3 expression in renal cell carcinoma Publication Status: Online-Only, [RefSeq, PubMed]; ZHX3 promotes the progression of urothelial carcinoma of the bladder via repressing of RGS2 and is a novel substrate of TRIM21., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "E1P5W5;F5H820;O43145;Q6NUJ7", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding", "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:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q9H4I2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UKY4-1", "uniprot_id": "POMT2_HUMAN", "mass": 84214.0, "length": 750, "protein_name": "Protein O-mannosyl-transferase 2", "gene_name": "POMT2", "organism": "Human", "refseq_name": "protein O-mannosyl-transferase 2", "refseq_ac": "NP_037514", "gene_names_uniprotkb": "POMT2", "gene_names_refseq": "LGMD2N; LGMDR14; MDDGA2; MDDGB2; MDDGC2; POMT2", "protein_names_uniprotkb": "Protein O-mannosyl-transferase 2; 2.4.1.109; Dolichyl-phosphate-mannose--protein mannosyltransferase 2", "protein_names_refseq": "dolichyl-phosphate-mannose--protein mannosyltransferase 2; protein O-mannosyl-transferase 2", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); Walker-Warburg syndrome (Disease Ontology:DOID:0050560); congenital disorder of glycosylation Iu (Disease Ontology:DOID:0080571); autosomal recessive limb-girdle muscular dystrophy (Disease Ontology:DOID:0110274); autosomal recessive limb-girdle muscular dystrophy type 2N (Disease Ontology:DOID:0110298); congenital muscular dystrophy-dystroglycanopathy type A2 (Disease Ontology:DOID:0111240); muscular dystrophy-dystroglycanopathy (Disease Ontology:DOID:0112374); muscular dystrophy-dystroglycanopathy type B2 (Disease Ontology:DOID:0112380); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:29954); (R-HSA-5083629); (R-HSA-5083633); (R-HSA-8932504); (R-HSA-8932505); (R-HSA-8932506); (R-HSA-9768727)", "pathway_count": 7, "publication_count": 70, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11709191;12369018;12460945;12941944;14699049;14724282;15792865;15894594;16575835;16701995;17261850;17634419;17878207;17923109;18491227;19138766;19299310;22172424;22375065;22706990;22958903;23186163;23329833;23453667;23481700;23929950;24190977;24681004;24925318;24966173;25418920;25892735;26416966;26758079;26992070;27066570;27255086;28228285;28512129;28834231;28904123;28980384;29175898;29242379;29393594;29741879;29769354;30315122;30524438;31844290;31848261;32157095;32387766;32938616;33717175;33912179;33968037;34171305;34211107;34509645;34565739;35051231;35251023;35318648;36217604;37074911;37340703;7982500", "class_list": "glycogene;glycosyltransferase", "function": "Active enzyme complex of POMT1 and POMT2 suggests that the regulation of protein O-mannosylation is complex and appears to be required for normal structure and function of alpha-dystroglycan in muscle and brain, [RefSeq, PubMed]; Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb-girdle muscular dystrophy., [RefSeq, PubMed]; Molecular cloning and characterization, [RefSeq, PubMed]; Muscle biopsy revealed absent alpha-dystroglycan on immunostaining and genetic testing confirmed the diagnosis with two previously described POMT2 mutations. This is the first reported case of WWS syndrome associated with noncompaction cardiomyopathy, [RefSeq, PubMed]; POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy.', trans 'POMT1POMT22alpha-., [RefSeq, PubMed]; The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008]., [RefSeq]; The study expands the mutational spectrum for Limb-girdle Muscular Dystrophy type2N, with the description of 11 novel POMT2 mutations in the association with LGMD2N., [RefSeq, PubMed]; Transfers mannose from Dol-P-mannose to Ser or Thr residues on proteins., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient (PubMed:14699049, PubMed:28512129). Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins (PubMed:28512129)., [UniProtKB, PubMed, PubMed, 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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1120, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 9, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q9NSG6;Q9P1W0;Q9P1W2", "ec_number_list": "2.4.1.109", "go_molecular_function": "GO:0004169 dolichyl-phosphate-mannose-protein mannosyltransferase activity;GO:0046872 metal ion binding;GO:0000030 mannosyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0035269 protein O-linked glycosylation via mannose;GO:0006493 protein O-linked glycosylation", "synthesized_glycan_count": 1677, "hit_score": 8.7, "record_id": "Q9UKY4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H5I5-1", "uniprot_id": "PIEZ2_HUMAN", "mass": 318064.0, "length": 2752, "protein_name": "Piezo-type mechanosensitive ion channel component 2", "gene_name": "PIEZO2", "organism": "Human", "refseq_name": "piezo-type mechanosensitive ion channel component 2 isoform 2", "refseq_ac": "NP_071351", "gene_names_uniprotkb": "PIEZO2; C18orf30; C18orf58; FAM38B", "gene_names_refseq": "C18orf30; C18orf58; DA3; DA5; DAIPT; FAM38B2; FAM38B; HsT748; HsT771; MWKS; PIEZO2", "protein_names_uniprotkb": "Piezo-type mechanosensitive ion channel component 2; Protein FAM38B", "protein_names_refseq": "family with sequence similarity 38, member A pseudogene; family with sequence similarity 38, member B2; piezo-type mechanosensitive ion channel component 1 pseudogene; piezo-type mechanosensitive ion channel component 2 isoform 2; protein PIEZO2", "tax_id": 9606, "disease": "dehydrated hereditary stomatocytosis (Disease Ontology:DOID:0111575); distal arthrogryposis type 3 (Disease Ontology:DOID:0111607); distal arthrogryposis type 5 (Disease Ontology:DOID:0111608); Marden-Walker syndrome (MONDO:MONDO:0009564); arthrogryposis, distal, with impaired proprioception and touch (MONDO:MONDO:0014941)", "pathway": " (hsa:63895)", "pathway_count": 1, "publication_count": 66, "publication_id_list": "10.1101/2023.09.13.557529;11237011;22898188;22921401;23481700;23487782;24190977;24714562;24715725;24726473;25418920;25576301;25892735;26375851;26992070;27607563;27653382;27920218;28063628;28218747;28228285;28411811;28514659;28832583;28855257;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29769354;29789417;30315122;30410026;31217245;31844290;32157095;32350084;32357974;32387766;32502341;32938616;33057202;33141586;33298915;33717175;33912179;33968037;34171305;34357683;34561969;34932366;35051231;35154160;35289036;35580925;36010968;36241641;37590348;38124148;38216574;38568807;38928429;39251883", "class_list": "", "function": "Axonal and Glial PIEZO1 and PIEZO2 Immunoreactivity in Human Clitoral Krause's Corpuscles. Publication Status: Online-Only, [RefSeq, PubMed]; Exploring Piezo1, Piezo2, and TMEM150C in human brain tissues and their correlation with brain biomechanical characteristics. Publication Status: Online-Only, [RefSeq, PubMed]; Mechanisms of mechanotransduction and physiological roles of PIEZO channels. Review article, [RefSeq, PubMed]; PIEZO2 expression is an independent biomarker prognostic for gastric cancer and represents a potential therapeutic target. Publication Status: Online-Only, [RefSeq, PubMed]; Piezo2 sensitization may contribute to PKA- and PKC-mediated mechanical hyperalgesia., [RefSeq, PubMed]; Pore-forming subunit of the mechanosensitive non-specific cation Piezo channel required for rapidly adapting mechanically activated (MA) currents and has a key role in sensing touch and tactile pain (PubMed:37590348). Piezo channels are homotrimeric three-blade propeller-shaped structures that utilize a cap-motion and plug-and-latch mechanism to gate their ion-conducting pathways (PubMed:37590348). Expressed in sensory neurons, is essential for diverse physiological processes, including respiratory control, systemic metabolism, urinary function, and proprioception (By similarity). Mediates airway stretch sensing, enabling efficient respiration at birth and maintaining normal breathing in adults (By similarity). It regulates brown and beige adipose tissue morphology and function, preventing systemic hypermetabolism (By similarity). In the lower urinary tract, acts as a sensor in both the bladder urothelium and innervating sensory neurons being required for bladder-stretch sensing and urethral micturition reflexes, ensuring proper urinary function (PubMed:33057202). Additionally, PIEZO2 serves as the principal mechanotransducer in proprioceptors, facilitating proprioception and coordinated body movements (By similarity). In inner ear hair cells, PIEZO1/2 subunits may constitute part of the mechanotransducer (MET) non-selective cation channel complex where they may act as pore-forming ion-conducting component in the complex (By similarity). Required for Merkel-cell mechanotransduction (By similarity). Plays a major role in light-touch mechanosensation (By similarity). In kidney, during blood volume challenges, regulates calcium dynamics and maintains renin production, thereby serving as an essential regulator of the renin-angiotensin-aldosterone system (RAAS) and systemic blood volume control (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; TMC7 functions as a suppressor of Piezo2 in primary sensory neurons blunting peripheral mechanotransduction., [RefSeq, PubMed]; The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical forces to biological signals. The encoded protein quickly adapts MA currents in somatosensory neurons. Defects in this gene are a cause of type 5 distal arthrogryposis. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 61, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 5, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B7Z812;M4GPJ9;Q6ZS91;Q8N787;Q8NAR6;Q9H5R4", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0005261 monoatomic cation channel activity;GO:0008381 mechanosensitive monoatomic ion channel activity;GO:0140135 mechanosensitive monoatomic cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0032809 neuronal cell body membrane;GO:0032437 cuticular plate;GO:0032420 stereocilium;GO:0016020 membrane", "go_biological_process": "GO:0042391 regulation of membrane potential;GO:0009612 response to mechanical stimulus;GO:0006812 monoatomic cation transport;GO:0071260 cellular response to mechanical stimulus;GO:0050982 detection of mechanical stimulus", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9H5I5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6A1-1", "uniprot_id": "POMT1_HUMAN", "mass": 84881.0, "length": 747, "protein_name": "Protein O-mannosyl-transferase 1", "gene_name": "POMT1", "organism": "Human", "refseq_name": "protein O-mannosyl-transferase 1 isoform b", "refseq_ac": "NP_001070833", "gene_names_uniprotkb": "POMT1", "gene_names_refseq": "LGMD2K; LGMDR11; MDDGA1; MDDGB1; MDDGC1; POMT1; RT", "protein_names_uniprotkb": "Protein O-mannosyl-transferase 1; 2.4.1.109; Dolichyl-phosphate-mannose--protein mannosyltransferase 1", "protein_names_refseq": "dolichyl-phosphate-mannose--protein mannosyltransferase 1; protein O-mannosyl-transferase 1 isoform b; protein O-mannosyl-transferase 1; testis tissue sperm-binding protein Li 57p", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); Walker-Warburg syndrome (Disease Ontology:DOID:0050560); muscular dystrophy-dystroglycanopathy type B1 (Disease Ontology:DOID:0050588); cardiomyopathy (Disease Ontology:DOID:0050700); congenital disorder of glycosylation Iu (Disease Ontology:DOID:0080571); autosomal recessive limb-girdle muscular dystrophy type 2K (Disease Ontology:DOID:0110297); congenital muscular dystrophy-dystroglycanopathy type A (Disease Ontology:DOID:0111229); congenital muscular dystrophy-dystroglycanopathy type A1 (Disease Ontology:DOID:0111237); muscular dystrophy-dystroglycanopathy (Disease Ontology:DOID:0112374); muscular dystrophy-dystroglycanopathy type B (Disease Ontology:DOID:0112375); cleft lip (Disease Ontology:DOID:9296); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:10585); (R-HSA-5083629); (R-HSA-5083633); (R-HSA-8932504); (R-HSA-8932505); (R-HSA-8932506); (R-HSA-9768727)", "pathway_count": 7, "publication_count": 82, "publication_id_list": "10.1101/2023.09.13.557529;10366449;11053679;11237011;11320179;11709191;12369018;12757935;12941944;14678799;14699049;14724282;15037715;15637732;15792865;15894594;16303743;16575835;16717220;17261850;17878207;18491227;18513969;19138766;19159218;19299310;22172424;22375065;22549409;22958903;23329833;23453667;23929950;24190977;24681004;24925318;24966173;25645385;26416966;26992070;27066570;27255086;27846572;28218747;28228285;28512129;28832583;28904123;29242379;29437277;29493099;29508533;29557506;29769354;30315122;30410026;30454682;30524438;30779550;30833945;31154438;31217245;31324691;31844290;32157095;32161166;32357974;32897882;32938616;33592498;33863907;33912179;33968037;34171305;34565739;35051231;35289036;35580925;36010968;36241641;37074911;7982500", "class_list": "glycogene;glycosyltransferase", "function": "Enhanced influenza A H1N1 T cell epitope recognition and cross-reactivity to protein-O-mannosyltransferase 1 in Pandemrix-associated narcolepsy type 1. Publication Status: Online-Only, [RefSeq, PubMed]; Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation., [RefSeq, PubMed]; In this review, we highlight the present knowledge of the identified disease-associated POMT1 gene mutations and genetic animal models related to the POMT1 gene. Review article, [RefSeq, PubMed]; Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome, [RefSeq, PubMed]; POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy.', trans 'POMT1POMT22alpha-., [RefSeq, PubMed]; The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]., [RefSeq]; Transfers mannose from Dol-P-mannose to Ser or Thr residues on proteins., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient (PubMed:12369018, PubMed:14699049, PubMed:28512129). Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins (PubMed:28512129)., [UniProtKB, PubMed, 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": 3, "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": 0, "reported_glycation": 0, "reported_snv": 1053, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 12, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B3KQG0;B4DIF0;Q5JT01;Q5JT06;Q5JT08;Q8NC91;Q8TCA9;Q9NX32;Q9NX82;Q9UNT2", "ec_number_list": "2.4.1.109", "go_molecular_function": "GO:0004169 dolichyl-phosphate-mannose-protein mannosyltransferase activity;GO:0046872 metal ion binding;GO:0000030 mannosyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0001669 acrosomal vesicle;GO:0016529 sarcoplasmic reticulum", "go_biological_process": "GO:0006493 protein O-linked glycosylation;GO:0035269 protein O-linked glycosylation via mannose", "synthesized_glycan_count": 1677, "hit_score": 9.6, "record_id": "Q9Y6A1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P05455-1", "uniprot_id": "LA_HUMAN", "mass": 46837.0, "length": 408, "protein_name": "Lupus La protein", "gene_name": "SSB", "organism": "Human", "refseq_name": "lupus La protein", "refseq_ac": "NP_001281074", "gene_names_uniprotkb": "SSB", "gene_names_refseq": "LARP3; La/SSB; La; SSB", "protein_names_uniprotkb": "Lupus La protein; La autoantigen; La ribonucleoprotein; SS-B; Sjoegren syndrome type B antigen", "protein_names_refseq": "La ribonucleoprotein domain family, member 3; SS-B/La protein; Sjogren syndrome antigen B; autoantigen La; la autoantigen; lupus La antigen; lupus La protein; sjoegren syndrome type B antigen", "tax_id": 9606, "disease": "", "pathway": " (hsa:6741); (R-HSA-73980); (R-HSA-749476)", "pathway_count": 3, "publication_count": 113, "publication_id_list": "10671200;10715123;11118217;11237011;11862315;11959762;12384597;12458796;12842046;12892735;14617813;15004549;16387655;17081983;17287340;17907193;17924679;18212344;18257391;18318008;18452278;18491316;18547518;18669648;18691976;18707149;18836485;19054851;19413330;19415658;19608861;19651622;19664995;19690332;19950171;20068231;20166139;20230923;21406692;23186163;23301498;24275569;24366607;2452201;2468131;2470590;24715725;25576301;25880248;26154972;26992070;27600516;27846572;27920218;28218747;28228285;28510447;28832583;28904123;29242379;29437277;29493099;29557506;29632711;29786170;30315122;30429286;30444036;30484775;30779550;31217245;31844290;3192525;32157095;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33592498;33691108;33717175;33912179;33968037;34019948;34561969;34636174;34725712;35051231;35083852;35138101;35251023;35580925;36010968;36284347;36768895;36785788;37938771;3856888;38665916;39009594;40914422;8035818;8308883;8824709;8920873;9054510;9158085;9660958", "class_list": "", "function": "Binds to the 3' poly(U) terminus of nascent RNA polymerase III transcripts, protecting them from exonuclease digestion and facilitating their folding and maturation (PubMed:2470590, PubMed:3192525). In case of Coxsackievirus B3 infection, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation (PubMed:12384597)., [UniProtKB, PubMed, PubMed, PubMed]; LARP3, LARP7, and MePCE are involved in the early stage of human telomerase RNA biogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; NMR Analysis Suggests Synergy between the RRM2 and the Carboxy-Terminal Segment of Human La Protein in the Recognition and Interaction with HCV IRES. Publication Status: Online-Only, [RefSeq, PubMed]; The RNA-binding protein La/SSB associates with radiation-induced DNA double-strand breaks in lung cancer cell lines., [RefSeq, PubMed]; The protein encoded by this gene is involved in diverse aspects of RNA metabolism, including binding and protecting poly(U) termini of nascent RNA polymerase III transcripts from exonuclease digestion, processing 5' and 3' ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. Autoantibodies reacting with this protein are found in the sera of patients with Sjogren syndrome and systemic lupus erythematosus. Alternative promoter usage results in two different transcript variants which encode the same protein. [provided by RefSeq, Jun 2014]., [RefSeq]; Upregulated SSB Is Involved in Hepatocellular Carcinoma Progression and Metastasis through the Epithelial-Mesenchymal Transition, Antiapoptosis, and Altered ROS Level 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q15367;Q53XJ4", "ec_number_list": "", "go_molecular_function": "GO:1990825 sequence-specific mRNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0000049 tRNA binding;GO:0008266 poly(U) RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0010494 cytoplasmic stress granule;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:1903608 protein localization to cytoplasmic stress granule;GO:0075522 IRES-dependent viral translational initiation;GO:0006409 tRNA export from nucleus;GO:0008033 tRNA processing;GO:0006400 tRNA modification", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "P05455-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14954-1", "uniprot_id": "KI2S1_HUMAN", "mass": 33618.0, "length": 304, "protein_name": "Killer cell immunoglobulin-like receptor 2DS1", "gene_name": "KIR2DS1", "organism": "Human", "refseq_name": "killer cell immunoglobulin-like receptor 2DS1 precursor", "refseq_ac": "NP_055327", "gene_names_uniprotkb": "KIR2DS1; CD158H", "gene_names_refseq": "CD158H; CD158a; KIR2DS1; p50.1", "protein_names_uniprotkb": "Killer cell immunoglobulin-like receptor 2DS1; CD158 antigen-like family member H; MHC class I NK cell receptor Eb6 ActI", "protein_names_refseq": "CD158 antigen-like family member H; KIR2DS1 Killer-cell Immunoglobulin-like Receptor; MHC class I NK cell receptor Eb6 ActI; killer cell immunoglobulin-like receptor 2DS1 precursor; killer cell immunoglobulin-like receptor 2DS1; killer cell immunoglobulin-like receptor KIRDS1; killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1; killer-cell immunoglobulin-like receptor", "tax_id": 9606, "disease": "hepatitis C (Disease Ontology:DOID:1883)", "pathway": " (hsa:3806); (R-HSA-198933); (R-HSA-2172127)", "pathway_count": 3, "publication_count": 116, "publication_id_list": "10049942;10449773;10499918;10604985;10746781;10940905;11265639;11489943;11513152;11556966;11602640;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12668644;12776204;14707061;14719373;14970179;15034010;15136729;15155468;15187158;15265913;15304001;15534202;15541655;15557162;15580655;15607800;15778510;15781451;15800062;15851719;15864273;15884055;15940674;16014749;16091383;16129954;16339513;16380601;16551255;16623599;16737824;16754721;16893496;16904340;16920917;16928187;16933987;17012248;17045824;17057721;17110943;17202323;17237375;17337780;17483134;17641029;18031695;18037897;18055229;18209062;18234675;18593354;18624290;18629938;18682925;19149696;19359216;19592130;19858347;20093094;20730098;20865034;20890284;21241660;21800138;21841309;21877119;22396535;23394822;23695528;23715743;23929856;24305946;25703557;25716998;26284469;26300885;32680908;34464355;36713400;36720995;38240527;7531291;7542404;8178173;8627176;8995416;9285412;9314561;9430221;9490415;9625766;9655483;9700512;9730896", "class_list": "", "function": "Association of KIR2DL5, KIR2DS5, and KIR2DS1 allelic variation and atopic dermatitis. Publication Status: Online-Only, [RefSeq, PubMed]; HLA-C and KIR permutations influence chronic obstructive pulmonary disease risk. Publication Status: Online-Only, [RefSeq, PubMed]; KIR2DS1 and KIR2DL1-C245 Dominantly Repress NK Cell Degranulation Triggered by Monoclonal or Bispecific Antibodies, whereas Education by Uptuning Inhibitory Killer Ig-related Receptors Exerts No Advantage in Ab-dependent Cellular Cytotoxicity., [RefSeq, PubMed]; Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]., [RefSeq]; Receptor on natural killer (NK) cells for some HLA-C alleles such as w6. Does not inhibit the activity of NK cells., [UniProtKB, PubMed]; Resistance of KIR Ligand-Missing Leukocytes to NK Cells In Vivo in Patients with Acquired Aplastic Anemia. Publication Status: Online-Only, [RefSeq, PubMed]; Uterine NK cells underexpress KIR2DL1/S1 and LILRB1 in reproductive failure. Publication Status: Online-Only, [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 6, "binding_glycan_count": 0, "secondary_ac_list": "K7QUS8;O43471", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0140375 immune receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q14954-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBM1-1", "uniprot_id": "PEMT_HUMAN", "mass": 22134.0, "length": 199, "protein_name": "Phosphatidylethanolamine N-methyltransferase", "gene_name": "PEMT", "organism": "Human", "refseq_name": "phosphatidylethanolamine N-methyltransferase isoform 4", "refseq_ac": "NP_001254480", "gene_names_uniprotkb": "PEMT; PEMPT; PNMT", "gene_names_refseq": "PEAMT; PEMPT; PEMT2; PEMT; PLMT", "protein_names_uniprotkb": "Phosphatidylethanolamine N-methyltransferase; 2.1.1.17; 2.1.1.71; PEAMT; PEMT2; PEMT; PLMT; Phospholipid methyltransferase", "protein_names_refseq": "phosphatidylethanolamine N-methyltransferase isoform 4; phospholipid methyltransferase", "tax_id": 9606, "disease": "metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508)", "pathway": " (hsa:10400); (R-HSA-1483191)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "10100195;10191259;10677542;10893425;10931946;11068039;11237011;11420179;11698453;12055623;12216837;12221122;12431977;12842883;14973250;15175005;15715662;15911624;15927961;17007874;17158099;17456783;17561512;18694939;19915674;20338778;20860552;21926997;23328280;23901139;24732803;24828044;26005868;26048993;26945070;27920218;28821867;28904123;29242379;29393594;29557506;29632046;29786170;3057511;31844290;31848261;32157095;32938616;33503637;33592498;33912179;33968037;34087483;34171305;35580925;36012560;36154674;36241641;38069170;38502043;9593753;9989271", "class_list": "", "function": "Association between PEMT rs7946 and blood pressure levels in Chinese adolescents., [RefSeq, PubMed]; Catalyzes the three sequential steps of the methylation of 1,2-diacyl-sn-glycero-3-phospho-N-methylethanolamine (PMME) to 1,2-diacyl-sn-glycero-3-phospho-N,N-dimethylethanolamine (PDME) more efficiently than isoform 2 (PubMed:20860552). Induces increase in PC species with longer polyunsaturated chains than isoform 2 (PubMed:20860552)., [UniProtKB, PubMed]; Catalyzes the three sequential steps of the methylation pathway for the biosynthesis of phosphatidylcholine, a critical and essential component for membrane structure. Uses S-adenosylmethionine (S-adenosyl-L-methionine, SAM or AdoMet) as the methyl group donor for the methylation of phosphatidylethanolamine (1,2-diacyl-sn-glycero-3-phosphoethanolamine, PE) to phosphatidylmonomethylethanolamine (1,2-diacyl-sn-glycero-3-phospho-N-methylethanolamine, PMME), PMME to phosphatidyldimethylethanolamine (1,2-diacyl-sn-glycero-3-phospho-N,N-dimethylethanolamine, PDME), and PDME to phosphatidylcholine (1,2-diacyl-sn-glycero-3-phosphocholine, PC), producing S-adenosyl-L-homocysteine in each step., [UniProtKB, HAMAP, UniProtKB, PubMed, PubMed]; Dietary Choline Intake during Pregnancy and PEMT rs7946 Polymorphism on Risk of Preterm Birth: A Case-Control Study., [RefSeq, PubMed]; Hepatic PEMT Expression Decreases with Increasing NAFLD Severity. Publication Status: Online-Only, [RefSeq, PubMed]; PEMT variants are associated with nonsyndromic cleft lip with or without cleft palate in Chile., [RefSeq, PubMed]; Phosphatidylcholine (PC) is the most abundant mammalian phospholipid. This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. Another distinct synthetic pathway in nucleated cells converts intracellular choline to phosphatidylcholine by a three-step process. The protein isoforms encoded by this gene localize to the endoplasmic reticulum and mitochondria-associated membranes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]., [RefSeq]; Produces a higher increase in the level of PC species containing long chains with three double bonds than isoform 1., [UniProtKB, PubMed]; The Role of Phosphatidylethanolamine N-Methyltransferase (PEMT) and Its Waist-Hip-Ratio-Associated Locus rs4646404 in Obesity-Related Metabolic Traits and Liver 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": 4, "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": "A8MZ66;B4DY41;D3DXC3;Q6IAQ5;Q86VL3;Q9BW86;Q9UHY6;Q9Y6V9", "ec_number_list": "2.1.1.17;2.1.1.71", "go_molecular_function": "GO:0000773 phosphatidyl-N-methylethanolamine N-methyltransferase activity;GO:0004608 phosphatidylethanolamine N-methyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0031966 mitochondrial membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006656 phosphatidylcholine biosynthetic process;GO:0032259 methylation;GO:0120162 positive regulation of cold-induced thermogenesis", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q9UBM1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q17RQ9-1", "uniprot_id": "NKPD1_HUMAN", "mass": 67780.0, "length": 610, "protein_name": "NTPase KAP family P-loop domain-containing protein 1", "gene_name": "NKPD1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "NKPD1", "gene_names_refseq": "", "protein_names_uniprotkb": "NTPase KAP family P-loop domain-containing protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:284353)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;26154972;29557506;32488085;37217939", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7ZLG6;D6RH15;Q8N2A2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q17RQ9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99755-1", "uniprot_id": "PI51A_HUMAN", "mass": 62633.0, "length": 562, "protein_name": "Phosphatidylinositol 4-phosphate 5-kinase type-1 alpha", "gene_name": "PIP5K1A", "organism": "Human", "refseq_name": "phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 3", "refseq_ac": "NP_001129108", "gene_names_uniprotkb": "PIP5K1A", "gene_names_refseq": "PIP5K1A", "protein_names_uniprotkb": "Phosphatidylinositol 4-phosphate 5-kinase type-1 alpha; 2.7.1.68; 68 kDa type I phosphatidylinositol 4-phosphate 5-kinase alpha; PIP5K1-alpha; PIP5KIalpha; Phosphatidylinositol 4-phosphate 5-kinase type I alpha; PtdIns(4)P-5-kinase 1 alpha", "protein_names_refseq": "68 kDa type I phosphatidylinositol 4-phosphate 5-kinase alpha; PIP5K1-alpha; PIP5KIalpha; phosphatidylinositol 4-phosphate 5-kinase type I alpha; phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 3; ptdIns(4)P-5-kinase 1 alpha", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:8394); (R-HSA-1660499); (R-HSA-6811558)", "pathway_count": 3, "publication_count": 150, "publication_id_list": "10194451;10224048;10555148;10559940;10593988;10753883;10805725;10822173;11001876;11084340;11237011;11279162;11302699;11349134;11604140;11676921;11733541;11877430;11923287;12101241;12118066;12324459;12422219;12536145;12646134;12682053;12808147;12847086;1325671;14516276;14617813;14660569;15080793;15107860;15135396;15157668;15464023;15716355;15797027;15840652;15870270;16154996;16399794;16456541;16476736;16522682;16914545;16979564;17008356;17200115;17245604;17651088;18093523;18288197;18753295;19038970;19158393;19576174;19896968;20534812;20660631;21204784;21477596;22037487;22645359;22647598;22942276;23186163;23481700;23519112;23758345;24714562;25418920;25495341;25576301;25645385;25892735;26154972;26375851;26728094;26992070;28218747;28832583;29242379;29437277;29508533;29557506;30315122;30410026;30779550;30833945;31091439;31154438;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32897882;32938616;32983136;33298915;33591981;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34087483;34093574;34171305;34357683;34537072;34561969;34932854;35051231;35154160;35318648;35561310;35580925;36010968;36241641;36581221;37655623;37874883;7608176;7624799;8681945;8723348;8769125;8955136;9094719;9113989;9211928;9286278;9295334;9367159;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063", "class_list": "", "function": "Catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns(4)P/PI4P) to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2/PIP2), a lipid second messenger that regulates several cellular processes such as signal transduction, vesicle trafficking, actin cytoskeleton dynamics, cell adhesion, and cell motility (PubMed:21477596, PubMed:22942276, PubMed:8955136). PtdIns(4,5)P2 can directly act as a second messenger or can be utilized as a precursor to generate other second messengers: inositol 1,4,5-trisphosphate (IP3), diacylglycerol (DAG) or phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3/PIP3) (PubMed:19158393, PubMed:20660631). PIP5K1A-mediated phosphorylation of PtdIns(4)P is the predominant pathway for PtdIns(4,5)P2 synthesis (By similarity). Can also use phosphatidylinositol (PtdIns) as substrate in vitro (PubMed:22942276). Together with PIP5K1C, is required for phagocytosis, both enzymes regulating different types of actin remodeling at sequential steps (By similarity). Promotes particle ingestion by activating the WAS GTPase-binding protein that induces Arp2/3 dependent actin polymerization at the nascent phagocytic cup (By similarity). Together with PIP5K1B, is required, after stimulation by G protein coupled receptors, for the synthesis of IP3 that will induce stable platelet adhesion (By similarity). Recruited to the plasma membrane by the E-cadherin/beta-catenin complex where it provides the substrate PtdIns(4,5)P2 for the production of PtdIns(3,4,5)P3, IP3 and DAG, that will mobilize internal calcium and drive keratinocyte differentiation (PubMed:19158393). Positively regulates insulin-induced translocation of SLC2A4 to the cell membrane in adipocytes (By similarity). Together with PIP5K1C has a role during embryogenesis (By similarity). Independently of its catalytic activity, is required for membrane ruffling formation, actin organization and focal adhesion formation during directional cell migration by controlling integrin-induced translocation of the small GTPase RAC1 to the plasma membrane (PubMed:20660631). Also functions in the nucleus where it acts as an activator of TUT1 adenylyltransferase activity in nuclear speckles, thereby regulating mRNA polyadenylation of a select set of mRNAs (PubMed:18288197)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Circ_PIP5K1A regulates cisplatin resistance and malignant progression in non-small cell lung cancer cells and xenograft murine model via depending on miR-493-5p/ROCK1 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Cross-species identification of PIP5K1-, splicing- and ubiquitin-related pathways as potential targets for RB1-deficient cells. Publication Status: Online-Only, [RefSeq, PubMed]; FcgammaRIIIa receptor interacts with androgen receptor and PIP5K1alpha to promote growth and metastasis of prostate cancer., [RefSeq, PubMed]; Human IL-17A protein production is controlled through a PIP5K1alpha-dependent translational checkpoint., [RefSeq, PubMed]; In addition to its effects upon Rac activity, Ajuba can also influence cell migration through regulation of PI(4,5)P2 synthesis through direct activation of PIPKIalpha enzyme activity, [RefSeq, PubMed]; Lipid kinase PIP5K1A regulates let-7 microRNA biogenesis through interacting with nuclear export protein XPO5., [RefSeq, PubMed]; Membrane ruffling requires coordination between this enzyme and Rac 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": 1, "reported_mutagensis": 5, "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": "A8K4Q0;B4DIN0;Q99754;Q99756", "ec_number_list": "2.7.1.68;2.7.1.149", "go_molecular_function": "GO:0052810 1-phosphatidylinositol-5-kinase activity;GO:0005524 ATP binding;GO:0019900 kinase binding;GO:0000285 1-phosphatidylinositol-3-phosphate 5-kinase activity;GO:0016308 1-phosphatidylinositol-4-phosphate 5-kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "GO:0051896 regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0006650 glycerophospholipid metabolic process;GO:0007165 signal transduction;GO:0016477 cell migration;GO:0072659 protein localization to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 15.1, "record_id": "Q99755-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NFF2-1", "uniprot_id": "NCKX4_HUMAN", "mass": 69042.0, "length": 622, "protein_name": "Sodium/potassium/calcium exchanger 4", "gene_name": "SLC24A4", "organism": "Human", "refseq_name": "sodium/potassium/calcium exchanger 4 isoform 1 precursor", "refseq_ac": "NP_705932", "gene_names_uniprotkb": "SLC24A4; NCKX4", "gene_names_refseq": "AI2A5; NCKX4; SHEP6; SLC24A4", "protein_names_uniprotkb": "Sodium/potassium/calcium exchanger 4; Na(+)/K(+)/Ca(2+)-exchange protein 4; Solute carrier family 24 member 4", "protein_names_refseq": "Na(+)/K(+)/Ca(2+)-exchange protein 4; Na/Ca-K exchanger 4; sodium/potassium/calcium exchanger 4 isoform 1 precursor; solute carrier family 24 (sodium/potassium/calcium exchanger), member 4", "tax_id": 9606, "disease": "amelogenesis imperfecta hypomaturation type 2A5 (Disease Ontology:DOID:0110063); pigmentation disease (Disease Ontology:DOID:10123); epilepsy (Disease Ontology:DOID:1826); obsolete skin/hair/eye pigmentation, variation in, 6 (MONDO:MONDO:0044252)", "pathway": " (hsa:123041); (R-HSA-425561); (R-HSA-5619055)", "pathway_count": 3, "publication_count": 30, "publication_id_list": "10.1101/2023.09.13.557529;10662833;11237011;11294880;12379639;14625281;15060069;16357253;17952075;18166528;18483556;19609347;19710684;23375655;24621671;25442250;26154972;26631410;27215332;29557506;31844290;32034543;32157095;32380970;32915910;33199372;33392160;35055328;36010968;9856482", "class_list": "", "function": "Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4. Publication Status: Online-Only, [RefSeq, PubMed]; Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) (PubMed:12379639, PubMed:26631410). Controls the rapid response termination and proper regulation of adaptation in olfactory sensory neurons (OSNs) which subsequently influences how odor information is encoded and perceived (By similarity). May play a role in calcium transport during amelogenesis (PubMed:23375655, PubMed:24621671)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Calmodulin binds and modulates K(+)-dependent Na(+)/Ca(2+)-exchanger isoform 4, NCKX4., [RefSeq, PubMed]; Genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; IRF4 and SLC24A4 loci are associated with human hair color and skin pigmentation. GeneRIF: Genome-wide association study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Identification and sequencing, as well as mapping to chromosomal region 14q32, [RefSeq, PubMed]; No significant relation was noted between SLC24A4 rs10498633 and late-onset Alzheimer;s disease risk in neither apolipoprotein E (APOE) epsilon4 carriers nor non-carriers after adjusting for age and gender, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a sodium/potassium/calcium exchange protein. The encoded antiporter transports one calcium and one potassium ion in exchange for four sodium ions and has been implicated in amelogenesis and enamel maturation. Certain variants in this gene have been associated with skin, hair, and eye pigmentation, while other variants have been identified in people with hypomaturation-type amelogenesis imperfecta. [provided by RefSeq, Nov 2023]., [RefSeq]; This nonsense sequence variant c.1192C > T (p.Gln398*) is the sixth disease-causing variant in SLC24A4, which extends its mutation spectrum and confirms the role of this gene in the morphogenesis of human tooth enamel. The identified variant highlights the critical role of SLC24A4 in causing a rare Amelogenesis imperfecta (AI) type in humans. 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DHE7;B9ZVY2;Q8N8U6;Q8NCX1;Q8NFF0;Q8NFF1", "ec_number_list": "", "go_molecular_function": "GO:0005262 calcium channel activity;GO:0005516 calmodulin binding;GO:0048306 calcium-dependent protein binding;GO:0015293 symporter activity;GO:0008273 calcium, potassium:sodium antiporter activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016324 apical plasma membrane;GO:0031982 vesicle", "go_biological_process": "GO:0050849 negative regulation of calcium-mediated signaling;GO:1903998 regulation of eating behavior;GO:0006874 intracellular calcium ion homeostasis;GO:0042756 drinking behavior;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q8NFF2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9WJR5-1", "uniprot_id": "POK19_HUMAN", "mass": 108106.0, "length": 959, "protein_name": "Endogenous retrovirus group K member 19 Pol protein", "gene_name": "ERVK-19", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ERVK-19", "gene_names_refseq": "", "protein_names_uniprotkb": "Endogenous retrovirus group K member 19 Pol protein; HERV-K(C19) Pol protein; HERV-K_19q11 provirus ancestral Pol protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 15, "publication_id_list": "10516026;12629516;12970426;14557543;15063128;27726376;29557506;30620550;35051231;36215666;37217939;7983737;9060628;9460924;9533039", "class_list": "", "function": "Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution., [UniProtKB]; Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties., [UniProtKB, PubMed]; Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution., [UniProtKB]; Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity)., [UniProtKB]; SU mediates receptor recognition., [UniProtKB]; TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity)., [UniProtKB]; The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": "O15312", "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.-;2.7.7.102", "go_molecular_function": "GO:0005198 structural molecule activity;GO:0003964 RNA-directed DNA polymerase activity;GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0004523 RNA-DNA hybrid ribonuclease activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006310 DNA recombination;GO:0006261 DNA-templated DNA replication;GO:0015074 DNA integration;GO:0075523 viral translational frameshifting;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9WJR5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H7L2-1", "uniprot_id": "KI3X1_HUMAN", "mass": 38777.0, "length": 352, "protein_name": "Putative killer cell immunoglobulin-like receptor-like protein KIR3DX1", "gene_name": "KIR3DX1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "KIR3DX1; KIR3DL0; LENG12", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative killer cell immunoglobulin-like receptor-like protein KIR3DX1; Leukocyte receptor cluster member 12", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 10, "publication_id_list": "16911775;25418920;26811146;28218747;28832583;29242379;29437277;29485866;30315122;32897882", "class_list": "", "function": "", "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": 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": "B7WNL0;Q8N0S4", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0140375 immune receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9H7L2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96FN5-1", "uniprot_id": "KIF12_HUMAN", "mass": 71098.0, "length": 651, "protein_name": "Kinesin-like protein KIF12", "gene_name": "KIF12", "organism": "Human", "refseq_name": "kinesin-like protein KIF12 isoform 1", "refseq_ac": "NP_612433", "gene_names_uniprotkb": "KIF12", "gene_names_refseq": "KIF12; PFIC8", "protein_names_uniprotkb": "Kinesin-like protein KIF12", "protein_names_refseq": "kinesin-like protein KIF12 isoform 1; kinesin-like protein KIF12", "tax_id": 9606, "disease": "progressive familial intrahepatic cholestasis (Disease Ontology:DOID:0070221); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); cholestasis, progressive familial intrahepatic, 8 (MONDO:MONDO:0030505)", "pathway": " (hsa:113220); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 3, "publication_count": 120, "publication_id_list": "10052452;10318838;10445031;10559959;10761932;10921873;11172815;11237011;11493604;11689559;11703931;11726511;11739780;11748249;11782313;12047556;12070132;12368902;1406973;14504276;14654841;15029241;15037235;15272311;15326200;15616190;15632110;15643526;15813748;16030262;1607388;16262723;1631136;16571679;16633337;1680566;16912714;16926190;16940185;17113389;17253781;17346968;17360540;17429068;17451557;17538014;17760859;17927562;17956946;18182008;18287528;18342609;18524849;18809720;1898986;19015319;19109418;19116309;19151722;19164740;19338388;19369418;1957170;19631211;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21219331;2142332;21550981;21689688;21844168;22013193;22094269;22304919;23396477;24275569;2521221;2522352;25364732;25436559;25492864;30250217;30976738;3130248;3134048;34555379;36830709;37217939;37866826;37919484;39894887;39920308;7528108;7539720;7822426;7844144;7929562;8001155;8128252;8132710;8221884;8253837;8505331;8548803;8599929;8602245;8620540;9114004;9177194;9244307;9288971;9405360;9751720;9990005", "class_list": "", "function": "Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes., [RefSeq, PubMed]; Involved in the negative regulation of fatty acid biosynthesis, probably acting as an adapter that allows ubiquitination of acetyl-CoA carboxylase 1 (ACACA) by E3 ubiquitin-protein ligase COP1, and promotes ACACA degradation (PubMed:39920308). The adapter function requires the C-terminal proline-rich domain and may be apart from the kinesin motor activity (Probable)., [UniProtKB, PubMed]; KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease., [RefSeq, PubMed]; Spatio-Temporal Expression Pattern of CAKUT Candidate Genes DLG1 and KIF12 during Human Kidney Development. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the kinesin superfamily of microtubule-associated molecular motors with functions related to the microtubule cytosekelton. Members of this superfamily play important roles in intracellular transport and cell division. A similar protein in mouse functions in the beta cell antioxidant signaling cascade, acting as a scaffold for the transcription factor specificity protein 1 (Sp1). Mice that lack this gene exhibit beta cell oxidative stress resulting in hypoinsulinemic glucose intolerance. [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": 5, "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": "A0A1W2PPS5;Q5TBE0", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity;GO:0003777 microtubule motor activity;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005929 cilium;GO:0070062 extracellular exosome;GO:0005871 kinesin complex", "go_biological_process": "GO:0045717 negative regulation of fatty acid biosynthetic process;GO:0007018 microtubule-based movement;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "Q96FN5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2M1P5-1", "uniprot_id": "KIF7_HUMAN", "mass": 150587.0, "length": 1343, "protein_name": "Kinesin-like protein KIF7", "gene_name": "KIF7", "organism": "Human", "refseq_name": "kinesin-like protein KIF7", "refseq_ac": "NP_940927", "gene_names_uniprotkb": "KIF7; PRO539", "gene_names_refseq": "ACLS; AGBK; HLS2; JBTS12; KIF7; MMEDF; UNQ340", "protein_names_uniprotkb": "Kinesin-like protein KIF7", "protein_names_refseq": "EQYK340; kinesin-like protein KIF7", "tax_id": 9606, "disease": "hydrolethalus syndrome (Disease Ontology:DOID:0050779); idiopathic scoliosis (Disease Ontology:DOID:0060250); ciliopathy (Disease Ontology:DOID:0060340); Bardet-Biedl syndrome 1 (Disease Ontology:DOID:0110123); hydrolethalus syndrome 2 (Disease Ontology:DOID:0111356); Bardet-Biedl syndrome (Disease Ontology:DOID:1935); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); acrocallosal syndrome (Disease Ontology:DOID:9250); cleft lip (Disease Ontology:DOID:9296); multiple epiphyseal dysplasia, Al-Gazali type (MONDO:MONDO:0011778)", "pathway": " (hsa:374654); (R-HSA-5610787); (R-HSA-5632684)", "pathway_count": 3, "publication_count": 171, "publication_id_list": "10433824;10564661;10966113;11027307;11237011;11375483;11960000;12050670;12068298;12123571;12138125;12192414;12426310;12435627;12975309;14528312;14603322;14611647;15087129;15115751;15198976;15300262;15547730;15930098;16061793;16136078;16155214;16229832;16254602;16311594;16339192;16396903;16421275;16459297;16459298;16493421;16611981;16651542;16707575;16740475;16980583;17027958;17115028;17200122;17442700;17553904;17641202;17762891;17960137;18327258;18455992;18497258;18669648;18827223;18832070;19000668;19196978;19223390;19286674;19305393;19365551;19368795;19371734;19413330;19533801;19549984;19592253;19622347;19664994;19666503;19684112;19767740;19776033;19818708;19852954;19877275;19878745;19906846;19948480;19955409;19996169;20014402;20016067;20067783;20154143;20207148;20360384;20395968;20412786;20460306;20487519;20512148;20643644;20818436;20844016;20889716;20956384;2105456;21209331;21552264;21633164;21695114;21801010;21878643;22007132;22231273;22391300;22391301;22587682;22982193;23125460;23209152;23332756;23719536;23725801;23955340;24072710;24302888;24339784;24397554;24582806;24845016;24854174;24863049;24917297;24925320;24952464;25576301;26174511;26811146;26992070;27600516;27846572;27862975;27920218;28218747;28904123;29242379;29393594;29557506;29605689;29786170;30192525;30315122;30429286;31020640;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32938616;33298915;33537174;33592498;33912179;33968037;34114033;34171305;34185709;34405274;34509645;35051231;35580925;36010968;37217939;37938771;9601642;9874371", "class_list": "", "function": "Essential for hedgehog signaling regulation: acts both as a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms (PubMed:21633164). Involved in the regulation of microtubular dynamics. Required for proper organization of the ciliary tip and control of ciliary localization of SUFU-GLI2 complexes (By similarity). Required for localization of GLI3 to cilia in response to Shh. Negatively regulates Shh signaling by preventing inappropriate activation of the transcriptional activator GLI2 in the absence of ligand. Positively regulates Shh signaling by preventing the processing of the transcription factor GLI3 into its repressor form. In keratinocytes, promotes the dissociation of SUFU-GLI2 complexes, GLI2 nuclear translocation and Shh signaling activation (By similarity). Involved in the regulation of epidermal differentiation and chondrocyte development (By similarity)., [UniProtKB, UniProtKB, PubMed]; Sequences in the stalk domain regulate auto-inhibition and ciliary tip localization of the immotile kinesin-4 KIF7., [RefSeq, PubMed]; This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "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": "Q3SXY0;Q6UXE9;Q8IW72", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity;GO:0003777 microtubule motor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005929 cilium;GO:0005871 kinesin complex;GO:0036064 ciliary basal body", "go_biological_process": "GO:0045880 positive regulation of smoothened signaling pathway;GO:0007018 microtubule-based movement;GO:0045879 negative regulation of smoothened signaling pathway", "synthesized_glycan_count": 0, "hit_score": 17.4, "record_id": "Q2M1P5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14952-1", "uniprot_id": "KI2S3_HUMAN", "mass": 33717.0, "length": 304, "protein_name": "Killer cell immunoglobulin-like receptor 2DS3", "gene_name": "KIR2DS3; KIR2DS5", "organism": "Human", "refseq_name": "killer cell immunoglobulin-like receptor 2DS3 precursor", "refseq_ac": "NP_036445", "gene_names_uniprotkb": "KIR2DS3; KIR2DS5; KIR2DL5A; LOC102725023; NKAT7", "gene_names_refseq": "KIR2DS3; NKAT-7; NKAT7", "protein_names_uniprotkb": "Killer cell immunoglobulin-like receptor 2DS3; NKAT-7; Natural killer-associated transcript 7", "protein_names_refseq": "MHC class I NK cell receptor; killer cell immunoglobulin-like receptor 2DS3 precursor; killer cell immunoglobulin-like receptor 2DS3; killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3; natural killer cell inhibitory receptor; natural killer-associated transcript 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:3808)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "26472014;27490240;27631728;28993188;35537400;8662091;9430221", "class_list": "", "function": "Activating KIR2DS3 was associated with rapid leukocyte engraftment after hematopoietic stem cell transplantation from matched sibling, [RefSeq, PubMed]; Clinical Impact of KIR2DS3 and KIR2DL3 Genes in Neuroblastoma Patients., [RefSeq, PubMed]; Genetic polymorphism is associated with childhood acute lymphoblastic leukemia among north Indians, [RefSeq, PubMed]; Genotypes missing these two inhibitory KIR-HLA combinations in addition to missing activating KIRs 2DS2 and 2DS3 were more common in Vogt-Koyanagi-Harada disease (OR = 1.90, P = 0.002). Publication Status: Online-Only, [RefSeq, PubMed]; Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]., [RefSeq]; Loss of KIR2DS3 gene is associated with breast cancer., [RefSeq, PubMed]; Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells., [UniProtKB]", "predicted_glycosites": 5, "predicted_n_glycosites": 3, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 5, "binding_glycan_count": 0, "secondary_ac_list": "O00644", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0140375 immune receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0006968 cellular defense response", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q14952-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P43631-1", "uniprot_id": "KI2S2_HUMAN", "mass": 33502.0, "length": 304, "protein_name": "Killer cell immunoglobulin-like receptor 2DS2", "gene_name": "KIR2DS2", "organism": "Human", "refseq_name": "killer cell immunoglobulin-like receptor 2DS2 isoform b precursor", "refseq_ac": "NP_001278624", "gene_names_uniprotkb": "KIR2DS2; CD158J; LOC124900573; NKAT5", "gene_names_refseq": "183ActI; CD158J; CD158b; KIR-2DS2; KIR2DS2; NKAT-5; NKAT5; cl-49", "protein_names_uniprotkb": "Killer cell immunoglobulin-like receptor 2DS2; CD158 antigen-like family member J; NK receptor 183 ActI; NKAT-5; Natural killer-associated transcript 5; p58 NK receptor CL-49; p58 natural killer cell receptor clone CL-49", "protein_names_refseq": "CD158 antigen-like family member J; KIR2DS2 Killer-cell Immunoglobulin-like Receptor; MHC class I NK cell receptor; NK receptor 183 ActI; killer cell immunoglobulin-like receptor 2DS2 isoform b precursor; killer cell immunoglobulin-like receptor 2DS2; killer cell immunoglobulin-like receptor KIR2DS2; killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2; killer-cell Ig-like receptor; killer-cell immunoglobulin-like receptor two domains short tail 2 protein; natural killer associated transcript 5; natural killer cell inhibitory receptor; p58 killer cell inhibitory receptor KIR-K7a; p58 natural killer cell receptor clone CL-49", "tax_id": 9606, "disease": "", "pathway": " (hsa:100132285); (R-HSA-198933); (R-HSA-2172127)", "pathway_count": 3, "publication_count": 114, "publication_id_list": "10049942;10449773;10499918;10604985;10746781;10940905;11265639;11489943;11513152;11556966;11602640;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12668644;12776204;14607943;14707061;14719373;14970179;15034010;15136729;15155468;15187158;15265913;15304001;15534202;15541655;15557162;15580655;15607800;15778510;15781451;15800062;15851719;15864273;15884055;15940674;16014749;16091383;16129954;16339513;16380601;16551255;16623599;16737824;16754721;16893496;16904340;16920917;16928187;16933987;17012248;17045824;17057721;17110943;17202323;17237375;17337780;17483134;17641029;18031695;18037897;18055229;18209062;18234675;18593354;18624290;18629938;19149696;19359216;19592130;19858347;20093094;20730098;20865034;20890284;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24305946;25703557;25716998;26284469;26300885;32961633;35154153;35768150;38387251;7531291;7542404;7716543;7749980;8178173;8627176;8995416;9285412;9314561;9490415;9625766;9655483;9700512;9730896", "class_list": "", "function": "Clinical and histopathological changes in different KIR gene profiles in chronic HCV Romanian patients., [RefSeq, PubMed]; Evaluation of the genetic diversity of KIR genes in patients with endometrial cancer., [RefSeq, PubMed]; KIR2DS2 Expression Identifies NK Cells With Enhanced Anticancer Activity., [RefSeq, PubMed]; Killer Cell Immunoglobulin-Like Receptor Haplotype B Modulates Susceptibility to EBV-Associated Classic Hodgkin Lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene represents a haplotype-specific family member that encodes a protein with a short cytoplasmic tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]., [RefSeq]; Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells., [UniProtKB]", "predicted_glycosites": 5, "predicted_n_glycosites": 3, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q14955;Q6H2G9", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0140375 immune receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0006955 immune response;GO:0002222 stimulatory killer cell immunoglobulin-like receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "P43631-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60985-1", "uniprot_id": "KTDAP_HUMAN", "mass": 11050.0, "length": 99, "protein_name": "Keratinocyte differentiation-associated protein", "gene_name": "KRTDAP", "organism": "Human", "refseq_name": "keratinocyte differentiation-associated protein isoform 2 precursor", "refseq_ac": "NP_001231776", "gene_names_uniprotkb": "KRTDAP; KDAP; PRO826", "gene_names_refseq": "KDAP; KRTDAP; UNQ467", "protein_names_uniprotkb": "Keratinocyte differentiation-associated protein", "protein_names_refseq": "KIPV467; keratinocyte differentiation-associated protein isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:388533); (R-HSA-9725554)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "12067728;12624109;12975309;15140226;15234001;15556625;15675955;15780751;16297201;17330888;19924134;22735594;23283814;23629652;24794495;26340985;26375851;30459171;30905808;31399284;32350084;33968037;34357683;35251023", "class_list": "", "function": "Kdap may serve as a soluble regulator of keratinocyte differentiation., [RefSeq, PubMed]; May act as a soluble regulator of keratinocyte differentiation. May play an important role in embryonic skin morphogenesis., [UniProtKB, PubMed]; This gene encodes a protein which may function in the regulation of keratinocyte differentiation and maintenance of stratified epithelia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A1L4D7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0042599 lamellar body", "go_biological_process": "GO:0030154 cell differentiation;GO:0008544 epidermis development", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "P60985-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15058-1", "uniprot_id": "KIF14_HUMAN", "mass": 186492.0, "length": 1648, "protein_name": "Kinesin-like protein KIF14", "gene_name": "KIF14", "organism": "Human", "refseq_name": "kinesin-like protein KIF14 isoform 2", "refseq_ac": "NP_001292721", "gene_names_uniprotkb": "KIF14; KIAA0042", "gene_names_refseq": "KIF14; MCPH20; MKS12", "protein_names_uniprotkb": "Kinesin-like protein KIF14", "protein_names_refseq": "epididymis secretory sperm binding protein; kinesin-like protein KIF14 isoform 2; kinesin-like protein KIF14", "tax_id": 9606, "disease": "Meckel syndrome (Disease Ontology:DOID:0050778); primary autosomal recessive microcephaly 20 (Disease Ontology:DOID:0051031); Meckel syndrome 12 (Disease Ontology:DOID:0061297)", "pathway": " (hsa:9928); (R-HSA-5625900); (R-HSA-9696270); (R-HSA-9696273)", "pathway_count": 4, "publication_count": 117, "publication_id_list": "10664463;11784792;11940653;12244061;12802051;12842009;14732713;15738000;15843429;15897902;16202622;16431929;16481321;16570270;16648480;16820410;17081983;18212344;18669648;18996843;19103606;19136556;19651622;19691289;20068231;20309963;20811643;22293177;22645359;23186163;23209302;23444367;23481700;23716662;24128419;24690281;24714562;24784001;24854087;25418920;25576301;25880248;25888806;26728094;26969432;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28411811;28630147;28832583;28892560;28904123;29242379;29343805;29393594;29437277;29493099;29632046;29786170;30059200;30315122;30379171;30410026;31154438;31492838;31530632;31844290;31871319;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32938750;33091337;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34357683;34509645;34561969;35051231;35154160;35254053;35494241;35580925;36010968;36227151;36822388;36922675;38070277;39531497;39534244;8543060;9531558;9792683;9870942;9870943", "class_list": "", "function": "During cytokinesis, the localization of KIF14 and citron kinase to the central spindle and midbody is codependent, and they form a complex depending on the activation state of citron kinase., [RefSeq, PubMed]; KIF14 is overexpressed in primary breast cancer; predicts disease-free and overall survival, [RefSeq, PubMed]; KIF14 mediates cabazitaxel-docetaxel cross-resistance in advanced prostate cancer by promoting AKT phosphorylation., [RefSeq, PubMed]; KIF14 promotes proliferation, lymphatic metastasis and chemoresistance through G3BP1/YBX1 mediated NF-kappaB pathway in cholangiocarcinoma., [RefSeq, PubMed]; MicroRNA-152 specifically targets kinesin family member 14 to suppress the advancement of bladder cancer cells via PI3K/AKT pathway., [RefSeq, PubMed]; Microtubule motor protein that binds to microtubules with high affinity through each tubulin heterodimer and has an ATPase activity (By similarity). Plays a role in many processes like cell division, cytokinesis and also in cell proliferation and apoptosis (PubMed:16648480, PubMed:24784001). During cytokinesis, targets to central spindle and midbody through its interaction with PRC1 and CIT respectively (PubMed:16431929). Regulates cell growth through regulation of cell cycle progression and cytokinesis (PubMed:24854087). During cell cycle progression acts through SCF-dependent proteasomal ubiquitin-dependent protein catabolic process which controls CDKN1B degradation, resulting in positive regulation of cyclins, including CCNE1, CCND1 and CCNB1 (PubMed:24854087). During late neurogenesis, regulates the cerebellar, cerebral cortex and olfactory bulb development through regulation of apoptosis, cell proliferation and cell division (By similarity). Also is required for chromosome congression and alignment during mitotic cell cycle process (PubMed:15843429). Regulates cell spreading, focal adhesion dynamics, and cell migration through its interaction with RADIL resulting in regulation of RAP1A-mediated inside-out integrin activation by tethering RADIL on microtubules (PubMed:23209302)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Noncoding RNAs-mediated overexpression of KIF14 is associated with tumor immune infiltration and unfavorable prognosis in lung adenocarcinoma., [RefSeq, PubMed]; Primary non-small-cell lung carcinoma overexpressing KIF14 showed a trend toward decreased survival. GeneRIF: Overexpressed in primary retinoblastoma and lung cancer, and in medulloblastoma and breast cancer cell lines. Low expression in normal adult tissue; highly expressed in fetal liver and thymus., [RefSeq, PubMed]; RNA interference-mediated silencing of KIF14 disrupts cell cycle progression and induces cytokinesis failure., [RefSeq, PubMed]; This gene encodes a member of the kinesin-3 superfamily of microtubule motor proteins. These proteins are involved in numerous processes including vesicle transport, chromosome segregation, mitotic spindle formation, and cytokinesis. In human HeLa-S3 and 293T cells, this protein is localized to the cytoplasm during interphase, to the spindle poles and spindle microtubules during mitosis, and to the midbody during cytokinesis. An internal motor domain displays microtubule-dependent ATPase activity, consistent with its function as a microtubule motor protein. Knockdown of this gene results in failed cytokinesis with endoreplication, which results in multinucleated cells. This gene has been identified as a likely oncogene in breast, lung and ovarian cancers, as well as retinoblastomas and gliomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 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": 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": 20, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "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": "Q14CI8;Q4G0A5;Q5T1W3", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0019901 protein kinase binding;GO:0016887 ATP hydrolysis activity;GO:0030165 PDZ domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule;GO:0016020 membrane", "go_biological_process": "GO:0021693 cerebellar Purkinje cell layer structural organization;GO:0021685 cerebellar granular layer structural organization;GO:0032487 regulation of Rap protein signal transduction;GO:0033624 negative regulation of integrin activation;GO:1903429 regulation of cell maturation", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "Q15058-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2TAC6-1", "uniprot_id": "KIF19_HUMAN", "mass": 111332.0, "length": 998, "protein_name": "Kinesin-like protein KIF19", "gene_name": "KIF19", "organism": "Human", "refseq_name": "kinesin-like protein KIF19", "refseq_ac": "NP_694941", "gene_names_uniprotkb": "KIF19", "gene_names_refseq": "KIF19A; KIF19", "protein_names_uniprotkb": "Kinesin-like protein KIF19", "protein_names_refseq": "kinesin-like protein KIF19", "tax_id": 9606, "disease": "", "pathway": " (hsa:124602); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 3, "publication_count": 111, "publication_id_list": "10052452;10318838;10445031;10559959;10761932;10921873;11172815;11237011;11493604;11689559;11703931;11726511;11739780;11748249;11782313;12047556;12070132;12368902;1406973;14504276;14654841;15029241;15037235;15272311;15326200;15616190;15632110;15813748;16030262;1607388;16262723;1631136;16571679;16633337;1680566;16912714;16926190;16940185;17113389;17253781;17346968;17360540;17429068;17451557;17538014;17760859;17927562;17956946;18182008;18287528;18342609;18524849;18809720;1898986;19015319;19109418;19116309;19151722;19164740;19338388;19369418;1957170;19631211;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21219331;2142332;21550981;21689688;21844168;22013193;22094269;22304919;23396477;2521221;2522352;25364732;25436559;25492864;3130248;3134048;35051231;35580925;7528108;7539720;7822426;7844144;7929562;8001155;8128252;8132710;8221884;8253837;8505331;8548803;8599929;8602245;8620540;9114004;9177194;9244307;9288971;9405360;9751720;9990005", "class_list": "", "function": "Plus end-directed microtubule-dependent motor protein that regulates the length of motile cilia by mediating depolymerization of microtubules at ciliary tips., [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": 31, "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": "A6NLG2;B7ZKR1;Q52M87;Q8N1X8;Q8TAB6", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity;GO:0003777 microtubule motor activity;GO:0008574 plus-end-directed microtubule motor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005929 cilium;GO:0005871 kinesin complex;GO:0005930 axoneme", "go_biological_process": "GO:0060404 axonemal microtubule depolymerization;GO:0070462 plus-end specific microtubule depolymerization;GO:0007018 microtubule-based movement", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q2TAC6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2VIQ3-1", "uniprot_id": "KIF4B_HUMAN", "mass": 140035.0, "length": 1234, "protein_name": "Chromosome-associated kinesin KIF4B", "gene_name": "KIF4B", "organism": "Human", "refseq_name": "chromosome-associated kinesin KIF4B", "refseq_ac": "NP_001092763", "gene_names_uniprotkb": "KIF4B", "gene_names_refseq": "KIF4B", "protein_names_uniprotkb": "Chromosome-associated kinesin KIF4B; Chromokinesin-B", "protein_names_refseq": "chromokinesin KIF4B; chromokinesin-B; chromosome-associated kinesin KIF4B", "tax_id": 9606, "disease": "epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:285643); (R-HSA-2132295); (R-HSA-437239); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 5, "publication_count": 201, "publication_id_list": "10036229;10052452;10064083;10072072;10318838;10445031;10480952;10540230;10559959;10593899;10608864;10631941;10631952;10639150;10747093;10748235;10761932;10804209;10809954;10818153;10921873;10978527;11172815;11493604;11529500;11684289;11689559;11703931;11726511;11739780;11748249;11782313;11790530;11813165;11853874;12047556;12070132;12078484;12082080;12198549;12368902;12742663;12748383;12942088;1406973;14504276;14654841;14731593;15029241;15037235;15272311;15326200;15616190;15632110;15749704;15813748;15911768;16030262;1607388;16181339;16201836;16242130;16262723;1631136;16330023;16571679;16618111;16633337;1680566;16824007;16912714;16926190;16940185;17113389;17142755;17253781;17283181;17346968;17360540;17429068;17451557;17538014;17760859;17927562;17956946;18046453;18182008;18287528;18292509;18342609;18478542;18524849;18669648;18809720;1898986;19015319;19109418;19116309;19151722;19164740;19278660;19338388;19369418;1956401;19564404;1957170;19631211;19691289;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21116285;2121367;21219331;2142332;21441454;21550981;21689688;21844168;2190094;22013193;22094269;22304919;23396477;23481700;2391366;2448316;24715725;2521221;2522352;25364732;25436559;25492864;26811146;26992070;27543614;28904123;29242379;29393594;29493099;29557506;30429286;3130248;3134048;32502341;33141586;7481823;7493978;7528108;7539720;7592972;7650016;7667286;7822426;7844144;7929562;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8221884;8253837;8313912;8397411;8415765;8505331;8548803;8599929;8602245;8620540;8642258;8687433;8849454;8909537;8939989;8947036;9075930;9114004;9177194;9202021;9244307;9288971;9311912;9312039;9405360;9497313;9539769;9545226;9606180;9651214;9721721;9751720;9990005", "class_list": "", "function": "Iron-sulfur (Fe-S) cluster binding motor protein that has a role in chromosome segregation during mitosis (By similarity). Translocates PRC1 to the plus ends of interdigitating spindle microtubules during the metaphase to anaphase transition, an essential step for the formation of an organized central spindle midzone and midbody and for successful cytokinesis (By similarity). May play a role in mitotic chromosomal positioning and bipolar spindle stabilization (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; This gene is an intronless retrocopy of kinesin family member 4A. The protein encoded by this gene is a microtubule-based motor protein that plays vital roles in anaphase spindle dynamics and cytokinesis. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0046872 metal ion binding;GO:0003777 microtubule motor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005874 microtubule;GO:0016363 nuclear matrix;GO:0005875 microtubule associated complex", "go_biological_process": "GO:0000281 mitotic cytokinesis;GO:0007018 microtubule-based movement;GO:0007052 mitotic spindle organization;GO:0051256 mitotic spindle midzone assembly;GO:0051231 spindle elongation", "synthesized_glycan_count": 0, "hit_score": 20.2, "record_id": "Q2VIQ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3LI58-1", "uniprot_id": "KR211_HUMAN", "mass": 7937.0, "length": 79, "protein_name": "Keratin-associated protein 21-1", "gene_name": "KRTAP21-1", "organism": "Human", "refseq_name": "keratin-associated protein 21-1", "refseq_ac": "NP_853650", "gene_names_uniprotkb": "KRTAP21-1; KAP21.1", "gene_names_refseq": "KAP21.1; KRTAP21-1", "protein_names_uniprotkb": "Keratin-associated protein 21-1", "protein_names_refseq": "keratin-associated protein 21-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:337977); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "15373777;16382671;1691188;1694855;16959974;1714783;17521629;23481192;2414304;25208914;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., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q3LI58-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3LI59-1", "uniprot_id": "KR212_HUMAN", "mass": 8564.0, "length": 83, "protein_name": "Keratin-associated protein 21-2", "gene_name": "KRTAP21-2", "organism": "Human", "refseq_name": "keratin-associated protein 21-2", "refseq_ac": "NP_853648", "gene_names_uniprotkb": "KRTAP21-2; KAP21.2", "gene_names_refseq": "KAP21.2; KRTAP21-2", "protein_names_uniprotkb": "Keratin-associated protein 21-2", "protein_names_refseq": "keratin-associated protein 21-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:337978); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;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., [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:0005829 cytosol;GO:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q3LI59-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3LI64-1", "uniprot_id": "KRA61_HUMAN", "mass": 7279.0, "length": 71, "protein_name": "Keratin-associated protein 6-1", "gene_name": "KRTAP6-1", "organism": "Human", "refseq_name": "keratin-associated protein 6-1", "refseq_ac": "NP_853633", "gene_names_uniprotkb": "KRTAP6-1; C21orf103; KAP6.1", "gene_names_refseq": "C21orf103; KAP6.1; KRTAP6-1", "protein_names_uniprotkb": "Keratin-associated protein 6-1", "protein_names_refseq": "keratin-associated protein 6-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:337966); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;29391282;9468612", "class_list": "", "function": "Expressed and purified are a high sulfur KAP (KAP11.1) and a high glycine-tyrosine KAP (KAP6.1)., [RefSeq, PubMed]; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]", "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_cellular_component": "GO:0005829 cytosol;GO:0005882 intermediate filament", "go_biological_process": "GO:0031424 keratinization", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q3LI64-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3LI67-1", "uniprot_id": "KRA63_HUMAN", "mass": 11146.0, "length": 110, "protein_name": "Keratin-associated protein 6-3", "gene_name": "KRTAP6-3", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "KRTAP6-3; KAP6.3", "gene_names_refseq": "", "protein_names_uniprotkb": "Keratin-associated protein 6-3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-6805567)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;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., [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": "A4IF26;A4QMZ2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005882 intermediate filament", "go_biological_process": "GO:0031424 keratinization", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q3LI67-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q587J8-1", "uniprot_id": "KHDC3_HUMAN", "mass": 24306.0, "length": 217, "protein_name": "KH domain-containing protein 3", "gene_name": "KHDC3L", "organism": "Human", "refseq_name": "KH domain-containing protein 3", "refseq_ac": "NP_001017361", "gene_names_uniprotkb": "KHDC3L; C6orf221; ECAT1", "gene_names_refseq": "C6orf221; ECAT1; HYDM2; KHDC3L", "protein_names_uniprotkb": "KH domain-containing protein 3; ES cell-associated transcript 1 protein; KHDC3-like protein", "protein_names_refseq": "ES cell-associated transcript 1 protein; KH domain-containing protein 3; KHDC3-like protein", "tax_id": 9606, "disease": "coronary artery disease (Disease Ontology:DOID:3393); gestational trophoblastic neoplasm (Disease Ontology:DOID:3590)", "pathway": " (hsa:154288)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "12787504;17913455;21885028;22909446;23963444;25542835;26537248;28228285;31609975;33392160;33639414;35051231;35643636;37148315;37918946", "class_list": "", "function": "Component of the subcortical maternal complex (SCMC), a multiprotein complex that plays a key role in early embryonic development (By similarity). The SCMC complex is a structural constituent of cytoplasmic lattices, which consist in fibrous structures found in the cytoplasm of oocytes and preimplantation embryos (By similarity). They are required to store maternal proteins critical for embryonic development, such as proteins that control epigenetic reprogramming of the preimplantation embryo, and prevent their degradation or activation (By similarity). KHDC3 ensures proper spindle assembly by regulating the localization of AURKA via RHOA signaling and of PLK1 via a RHOA-independent process (By similarity). Required for the localization of MAD2L1 to kinetochores to enable spindle assembly checkpoint function (By similarity). As part of the OOEP-KHDC3 scaffold, recruits BLM and TRIM25 to DNA replication forks, thereby promoting the ubiquitination of BLM by TRIM25, enhancing BLM retainment at replication forks and therefore promoting stalled replication fork restart (By similarity). Regulates homologous recombination-mediated DNA repair via recruitment of RAD51 to sites of DNA double-strand breaks, and sustainment of PARP1 activity, which in turn modulates downstream ATM or ATR activation (PubMed:31609975). Activation of ATM or ATR in response to DNA double-strand breaks may be cell-type specific (By similarity). Its role in DNA double-strand break repair is independent of its role in restarting stalled replication forks (By similarity). Promotes neural stem cell neurogenesis and neuronal differentiation in the hippocampus (By similarity). May regulate normal development of learning, memory and anxiety (By similarity). Capable of binding RNA (By similarity)., [UniProtKB, PubMed, UniProtKB]; Familial recurrent molar pregnancy: positive for KHDC3L gene mutation. Publication Status: Online-Only, [RefSeq, PubMed]; KH domain containing 3 like (KHDC3L) frame-shift mutation causes both recurrent pregnancy loss and hydatidiform mole., [RefSeq, PubMed]; Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte., [RefSeq, PubMed]; Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances. Publication Status: Online-Only, [RefSeq, PubMed]; Observations suggest that although NLRP7 and C6orf221 mutations are related to diploid biparental FRHMs, neither of these genes, nor NLRP2, are related to diploid HMs with biparental contributions to the molar genome., [RefSeq, PubMed]; The protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole. [provided by RefSeq, Dec 2011]., [RefSeq]; This paper states that ECAT1 is not found in rodents., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RNW7", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0140094 structural constituent of cytoplasmic lattice", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005813 centrosome;GO:0005938 cell cortex", "go_biological_process": "GO:0051293 establishment of spindle localization;GO:0007015 actin filament organization;GO:0043066 negative regulation of apoptotic process;GO:0032880 regulation of protein localization;GO:0040019 positive regulation of embryonic development", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q587J8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UX15-1", "uniprot_id": "LAYN_HUMAN", "mass": 43108.0, "length": 382, "protein_name": "Layilin", "gene_name": "LAYN", "organism": "Human", "refseq_name": "layilin isoform 1 precursor", "refseq_ac": "NP_001245319", "gene_names_uniprotkb": "LAYN; PRO234", "gene_names_refseq": "LAYN", "protein_names_uniprotkb": "Layilin", "protein_names_refseq": "layilin isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:143903)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "10.1038/emboj.2013.79;11237011;11294894;12975309;14702039;15489334;15913605;16554811;21423176;23048036;23584533;25150153;26410531;26758079;29242379;30429286;30459171;30761122;32539073;33592498;33676182;33968037;35318648;36010968;36398067;37335337;37642473;39455917;9786953", "class_list": "glycogene", "function": "Comprehensive landscape of the miRNA-regulated prognostic marker LAYN with immune infiltration and stemness in pan-cancer., [RefSeq, PubMed]; Elevated Layilin-Positive Monocyte Levels in the Peripheral Blood of Patients with Systemic Lupus Erythematosus Reflect Their Autoimmune Status., [RefSeq, PubMed]; Hyaluronan and layilin mediate loss of airway epithelial barrier function induced by cigarette smoke by decreasing E-cadherin., [RefSeq, PubMed]; Layilin promotes mitochondrial fission by cyclin-dependent kinase 1 and dynamin-related protein 1 activation in HEK293T cells., [RefSeq, PubMed]; NcRNA-Regulated LAYN Serves as a Prognostic Biomarker and Correlates with Immune Cell Infiltration in Hepatocellular Carcinoma: A Bioinformatics Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for hyaluronate., [UniProtKB, PubMed]; Role of layilin in regulating mitochondria-mediated apoptosis: a study on B cell lymphoma (BCL)-2 family proteins. 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": 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": 183, "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": "A6NJB0;B4DJU0;Q8TAY8;Q96NC5;Q96NF3", "ec_number_list": "", "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0005540 hyaluronic acid binding", "go_cellular_component": "GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0016020 membrane;GO:0001726 ruffle", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q6UX15-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86SY8-1", "uniprot_id": "KTAS1_HUMAN", "mass": 5770.0, "length": 53, "protein_name": "Putative uncharacterized protein KTN1-AS1", "gene_name": "KTN1-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "KTN1-AS1; C14orf33", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein KTN1-AS1; KTN1 antisense RNA 1; KTN1 antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q86SY8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86VH2-1", "uniprot_id": "KIF27_HUMAN", "mass": 160283.0, "length": 1401, "protein_name": "Kinesin-like protein KIF27", "gene_name": "KIF27", "organism": "Human", "refseq_name": "kinesin-like protein KIF27 isoform B", "refseq_ac": "NP_001258856", "gene_names_uniprotkb": "KIF27", "gene_names_refseq": "KIF27", "protein_names_uniprotkb": "Kinesin-like protein KIF27", "protein_names_refseq": "kinesin-like protein KIF27 isoform B; kinesin-like protein KIF27", "tax_id": 9606, "disease": "hydrocephalus (Disease Ontology:DOID:10908)", "pathway": " (hsa:55582); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 3, "publication_count": 122, "publication_id_list": "10052452;10318838;10445031;10559959;10761932;10921873;11172815;11237011;11493604;11689559;11703931;11726511;11739780;11748249;11782313;12047556;12070132;12368902;12783626;1406973;14504276;14654841;15029241;15037235;15272311;15326200;15616190;15632110;15813748;16030262;1607388;16262723;1631136;16571679;16633337;1680566;16912714;16926190;16940185;17113389;17253781;17346968;17360540;17429068;17451557;17538014;17760859;17927562;17956946;18182008;18287528;18342609;18524849;18809720;1898986;19015319;19109418;19116309;19151722;19164740;19338388;19369418;1957170;19631211;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21219331;2142332;21550981;21689688;21844168;22013193;22094269;22304919;23396477;24715725;2521221;2522352;25364732;25436559;25492864;26154972;28904123;29351928;29557506;30429286;3130248;3134048;31844290;32897882;32938616;33141586;33298915;33912179;7528108;7539720;7822426;7844144;7929562;8001155;8128252;8132710;8221884;8253837;8505331;8548803;8599929;8602245;8620540;9114004;9177194;9244307;9288971;9405360;9751720;9990005", "class_list": "", "function": "Plays an essential role in motile ciliogenesis., [UniProtKB]; This gene is a member of the KIF27 (kinesin 4) sub-family of the mammalian kinesin family. The gene is an ortholog of the Drosophila Cos2 gene, which plays an important role in the Hedgehog signaling pathway. The encoded protein contains an N-terminal motor domain which includes nucleotide-binding and microtubule-interacting regions, a stalk domain containing a predicted coiled coil motif and a C-terminal tail domain. Alternatively spliced transcript variants have been observed for this gene. Pseudogenes associated with this gene are located on chromosome 9. [provided by RefSeq, Dec 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": 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": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RTR8;Q5T6W0;Q86VH0;Q86VH1;Q9UF54", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity;GO:0003777 microtubule motor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005929 cilium;GO:0005871 kinesin complex;GO:0005856 cytoskeleton", "go_biological_process": "GO:0060271 cilium assembly;GO:0007018 microtubule-based movement", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "Q86VH2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IX03-1", "uniprot_id": "KIBRA_HUMAN", "mass": 125301.0, "length": 1113, "protein_name": "Protein KIBRA", "gene_name": "WWC1", "organism": "Human", "refseq_name": "protein KIBRA isoform 1", "refseq_ac": "NP_001155133", "gene_names_uniprotkb": "WWC1; KIAA0869; KIBRA", "gene_names_refseq": "HBEBP36; HBEBP3; KIBRA; MEMRYQTL; PPP1R168; WWC1", "protein_names_uniprotkb": "Protein KIBRA; HBeAg-binding protein 3; KIBRA; Kidney and brain protein; WW domain-containing protein 1", "protein_names_refseq": "HBeAg-binding protein 3; WW, C2 and coiled-coil domain containing 1; kidney and brain protein; protein KIBRA isoform 1; protein KIBRA; protein WWC1; protein phosphatase 1, regulatory subunit 168", "tax_id": 9606, "disease": "", "pathway": " (hsa:23286); (R-HSA-2028269); (R-HSA-9013508)", "pathway_count": 3, "publication_count": 73, "publication_id_list": "10964718;11118213;11237011;11278283;11866432;12386158;12559952;15081397;15109305;15688006;16684779;16930133;17053149;17085597;17924679;17974916;17994011;18158288;18190796;18227151;18328708;18596123;18669648;18672031;18974129;20068231;20159598;20159599;20412773;20850437;20868367;21187284;21205866;21224387;21233212;21555462;21832154;21878642;22396495;22784093;22904328;23065961;23186163;23481700;23778582;24269383;24275569;24682284;25417103;25576301;27749937;27841855;29242379;29557506;30192525;30379171;31844290;32157095;33298915;33392160;34087483;34171305;34561969;35051231;36241641;36284347;36672945;36853804;37853296;38414246;38749085;8702870;9545236", "class_list": "", "function": "Data describe the isolation of a cDNA coding for a novel protein, KIBRA, possessing two amino-terminal WW domains, an internal C2-like domain and a carboxy-terminal glutamic acid-rich stretch, [RefSeq, PubMed]; Hnrnpk protects against osteoarthritis through targeting WWC1 mRNA and inhibiting Hippo signaling pathway., [RefSeq, PubMed]; Identification as novel substrate for protein kinase C zeta and regulation of cellular function by same enzyme, [RefSeq, PubMed]; KIBRA Gene Variant Is Associated with Ability in Chess and Science. Publication Status: Online-Only, [RefSeq, PubMed]; KIBRA single nucleotide polymorphism is associated with hippocampal subfield volumes and cognition across development., [RefSeq, PubMed]; KIBRA upregulation increases susceptibility to podocyte injury and glomerular disease progression. Publication Status: Online-Only, [RefSeq, PubMed]; Regulator of the Hippo signaling pathway, also known as the Salvador-Warts-Hippo (SWH) pathway (PubMed:24682284). Enhances phosphorylation of LATS1 and YAP1 and negatively regulates cell proliferation and organ growth due to a suppression of the transcriptional activity of YAP1, the major effector of the Hippo pathway (PubMed:24682284). Along with NF2 can synergistically induce the phosphorylation of LATS1 and LATS2 and function in the regulation of Hippo signaling pathway (PubMed:20159598). Acts as a transcriptional coactivator of ESR1 which plays an essential role in DYNLL1-mediated ESR1 transactivation (PubMed:16684779). Regulates collagen-stimulated activation of the ERK/MAPK cascade (PubMed:18190796). Modulates directional migration of podocytes (PubMed:18596123). Plays a role in cognition and memory performance (PubMed:18672031). Plays an important role in regulating AMPA-selective glutamate receptors (AMPARs) trafficking underlying synaptic plasticity and learning (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The DLC1-KIBRA interaction is essential for ER transactivation in breast cancer cells, [RefSeq, PubMed]; The influence of hippocampal dopamine D2 receptor losses on episodic-memory decline across 5 years is moderated by BDNF and KIBRA polymorphisms., [RefSeq, PubMed]; The protein encoded by this gene is a cytoplasmic phosphoprotein that interacts with PRKC-zeta and dynein light chain-1. Alleles of this gene have been found that enhance memory in some individuals. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 26, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "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": "B4DK05;O94946;Q6MZX4;Q6Y2F8;Q7Z4G8;Q8WVM4;Q9BT29", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003713 transcription coactivator activity;GO:0019900 kinase binding;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0032587 ruffle membrane", "go_biological_process": "GO:0046621 negative regulation of organ growth;GO:0035330 regulation of hippo signaling;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q8IX03-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IYD9-1", "uniprot_id": "LAS2_HUMAN", "mass": 41811.0, "length": 372, "protein_name": "Lung adenoma susceptibility protein 2", "gene_name": "C18orf54; LAS2", "organism": "Human", "refseq_name": "lung adenoma susceptibility protein 2 isoform a", "refseq_ac": "NP_001275909", "gene_names_uniprotkb": "C18orf54; LAS2; C18orf54", "gene_names_refseq": "C18orf54; LAS2", "protein_names_uniprotkb": "Lung adenoma susceptibility protein 2", "protein_names_refseq": "lung adenoma susceptibility protein 2 isoform a; lung adenoma susceptibility protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:162681)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;23186163;25418920;26811146;26929215;28218747;28904123;29242379;29557506;29632046;30315122;31844290;32157095;32161166;32265295;32350084;32357974;33912179;34561969", "class_list": "", "function": "Might play a role in cell proliferation., [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "I7HFJ6;Q6MZU3;Q6ZTL6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q8IYD9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8MH63-1", "uniprot_id": "LAT1N_HUMAN", "mass": 18779.0, "length": 180, "protein_name": "Putative L-type amino acid transporter 1-like protein MLAS", "gene_name": "SLC7A5P1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "SLC7A5P1; MLAS", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative L-type amino acid transporter 1-like protein MLAS; hLAT1 3-transmembrane protein MLAS; hLAT1 3TM MLAS", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "12009310;29331515;29557506;33123756;34357683", "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:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:1902475 L-alpha-amino acid transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8MH63-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N4N8-1", "uniprot_id": "KIF2B_HUMAN", "mass": 76254.0, "length": 673, "protein_name": "Kinesin-like protein KIF2B", "gene_name": "KIF2B", "organism": "Human", "refseq_name": "kinesin-like protein KIF2B", "refseq_ac": "NP_115948", "gene_names_uniprotkb": "KIF2B", "gene_names_refseq": "KIF2B", "protein_names_uniprotkb": "Kinesin-like protein KIF2B", "protein_names_refseq": "kinesin protein; kinesin-like protein KIF2B; testis tissue sperm-binding protein Li 82P", "tax_id": 9606, "disease": "", "pathway": " (hsa:84643); (R-HSA-141430); (R-HSA-141444); (R-HSA-2132295); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-6811434); (R-HSA-68877); (R-HSA-9648025); (R-HSA-983189)", "pathway_count": 11, "publication_count": 263, "publication_id_list": "10036229;10052452;10064083;10072072;10318838;10411507;10445031;10480952;10540230;10559959;10593899;10600384;10631941;10631952;10639150;10678165;10748235;10761932;10809954;10921873;10958683;11081627;11172815;11181178;11371342;11493604;11509732;11529500;11535616;11684289;11689559;11703931;11726511;11739780;11748249;11782313;11790530;11804586;11813165;11853874;12006501;12047556;12070132;12078484;12194817;12198549;12368902;12429848;12577064;12679384;12732141;12742663;12748383;12805219;12852857;12893827;1406973;14504276;14654841;14730319;14731593;15006353;15029241;15037235;15085137;15272311;15326200;15339662;15507212;15616190;15632110;15723797;15737063;15749704;15813748;15864301;15866170;15911768;15944396;16030262;1607388;16181339;16242130;16262723;16292343;1631136;16439214;16541025;16571679;16618111;16622419;16622420;16633337;16682347;1680566;16824007;16890222;16912714;16926190;16940185;16943183;17030981;17112726;17113138;17113389;17129783;17142755;17196341;17198702;17253781;17283181;17346968;17360540;1737036;17429068;17451557;17538014;17760859;17927562;17956946;18001770;18046453;18097444;18182008;18287528;18292509;18342609;18524849;18716626;18809720;18923426;1898986;19015319;19060894;19109418;19116309;19151722;19164740;19338388;19350017;19369418;1956401;19564404;1957170;19631211;19696148;19758564;19815554;19965387;20005805;20030946;20068231;20101212;20136777;20357002;20427317;20462495;20534429;20591975;20637885;21111234;21116285;21148482;2121367;21219331;21397845;2142332;21441454;21550981;21576392;21689688;21844168;21868368;21878504;2190094;21987589;22013193;22094269;22094460;22275430;22304919;22535524;22608513;22790947;22885700;23087211;23222643;23301498;23396477;23801653;23891108;2391366;24914801;2521221;2522352;25364732;25436559;25492864;25740311;25789526;27893789;27982129;28832583;29557506;31154438;31179849;31217245;3130248;3134048;31409757;34260926;35051231;35580925;7481823;7528108;7539720;7592972;7650016;7667286;7822426;7844144;7929562;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8221884;8253837;8313912;8397411;8415765;8505331;8548803;8599929;8602245;8620540;8642258;8687433;8849454;8909537;8939989;8947036;9075930;9114004;9177194;9202021;9244307;9288971;9311912;9312039;9405360;9497313;9539769;9545226;9606180;9649308;9649503;9751720;9892021;9990005", "class_list": "", "function": "Chromosomal instability suppresses the growth of K-Ras-induced lung adenomas., [RefSeq, PubMed]; Data indicate that Cep170 association with the C-terminus of Kif2b enhances localization of Kif2b to the spindle., [RefSeq, PubMed]; GSK3beta-SKAP-Kif2b signaling axis constitutes a dynamic link between spindle microtubule plus-ends and mitotic chromosomes to achieve faithful cell division. Publication Status: Online-Only, [RefSeq, PubMed]; Here we show that two microtubule-depolymerizing kinesins, Kif2b and MCAK, stimulate kinetochore-microtubule dynamics during distinct phases of mitosis to correct mal-orientations., [RefSeq, PubMed]; Kinesin-I-dependent neuronal AbetaPP transport, which controls AbetaPP processing, may be regulated by JIP1, [RefSeq, PubMed]; Plus end-directed microtubule-dependent motor required for spindle assembly and chromosome movement. Has microtubule depolymerization activity (PubMed:17538014). Plays a role in chromosome congression (PubMed:23891108)., [UniProtKB, PubMed, PubMed]; These data demonstrate that Kif2b function is required for spindle assembly and chromosome movement and that the microtubule depolymerase activities of Kif2a, Kif2b, and MCAK fulfill distinct functions during mitosis in human cells., [RefSeq, PubMed]; When microtubules are absent, the neck linker exists in equilibrium between two structural states; microtubule binding may activate the nucleotide-sensing mechanism of kinesin, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 41, "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": "Q96MA2;Q9BXG6", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity;GO:0003777 microtubule motor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005819 spindle;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0051310 metaphase chromosome alignment;GO:0051301 cell division;GO:0007018 microtubule-based movement;GO:0007019 microtubule depolymerization;GO:0051983 regulation of chromosome segregation", "synthesized_glycan_count": 0, "hit_score": 26.6, "record_id": "Q8N4N8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92845-1", "uniprot_id": "KIFA3_HUMAN", "mass": 91205.0, "length": 792, "protein_name": "Kinesin-associated protein 3", "gene_name": "KIFAP3", "organism": "Human", "refseq_name": "kinesin-associated protein 3 isoform 2", "refseq_ac": "NP_001191443", "gene_names_uniprotkb": "KIFAP3; KIF3AP; SMAP", "gene_names_refseq": "FLA3; KAP-1; KAP-3; KAP3; KIFAP3; SMAP; Smg-GDS; dJ190I16.1", "protein_names_uniprotkb": "Kinesin-associated protein 3; KAP-3; KAP3; Smg GDS-associated protein", "protein_names_refseq": "kinesin-associated protein 3 isoform 2; small G protein GDP dissociation stimulator; smg GDS-associated protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:22920); (R-HSA-1445148); (R-HSA-2132295); (R-HSA-5620924); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 6, "publication_count": 325, "publication_id_list": "10036229;10052452;10064083;10069812;10072072;10318838;10445031;10480952;10540230;10559959;10593899;10631941;10631952;10639150;10748235;10761932;10809954;10921873;11172815;11237011;11285270;11493604;11529500;11684289;11689559;11703931;11726511;11739780;11748249;11782313;11790530;11813165;11853874;12047556;12070132;12078484;12198549;12368902;12742663;12748383;12795688;1406973;14504276;14654841;14731593;15029241;15037235;15231740;15269286;15272311;15326200;15489852;15523559;15616190;15632110;15749704;15813748;15911768;15919790;15955805;15971998;16030262;16049494;1607388;16181339;16242130;16262723;1631136;16435301;16492809;16571679;16618111;16633337;16775004;16782012;1680566;16824007;16880201;16912714;16926190;16940185;17113389;17142755;17253781;17283181;17312020;17314406;17346968;17360540;17369524;17429068;17451557;17538014;17574030;17760859;17927562;17956946;17995453;18046453;18180368;18182008;18287528;18292509;18304522;18342609;18364699;18369462;18524849;18809720;18852297;1898986;19013499;19015319;19109418;19112494;19116309;19147001;19151722;19164740;19252894;19253336;19338388;19369418;19384852;19450523;1956401;19564404;1957170;19631211;19720863;19758564;19805633;20005805;20068231;20136777;20357002;20427317;20435895;20462495;20526327;20526328;20530210;20534429;20631154;20637885;20701589;20837646;20889716;20937701;21116285;2121367;21219331;2142332;21427764;21441454;21454505;21454690;21550981;21689688;21844168;2190094;21907143;21936775;22013193;22094269;22118932;22304919;22645359;22922713;22992454;23186163;23396477;23481700;2391366;23945166;23990561;24140113;24275569;24296415;24366607;24596149;24616010;24714562;24715725;25205765;2521221;2522352;25349261;25364732;25418920;25436559;25443296;25492864;2550440;25576301;25645385;25880248;25892735;26375851;26929215;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30379171;30410026;30429286;30484775;30524438;31154438;31217245;3130248;3134048;31530632;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34509645;34932366;35051231;35322078;35561310;35580925;36010968;36241641;36284347;37217939;37938771;38013223;38869718;7481823;7528108;7539720;7592972;7650016;7667286;7822426;7844144;7929562;8001155;8046351;8094051;8128252;8132710;8134367;8145819;8148318;8221884;8253837;8313912;8397411;8415765;8505331;8516294;8522608;8548803;8599929;8602245;8620540;8642258;8664345;8687433;8849454;8900189;8909537;8939989;8947036;9075930;9114004;9114011;9177194;9202021;9244307;9288971;9311912;9312039;9405360;9497313;9506951;9539769;9545226;9585416;9585417;9606180;9751720;9852153;9990005", "class_list": "", "function": "Involved in tethering the chromosomes to the spindle pole and in chromosome movement. Binds to the tail domain of the KIF3A/KIF3B heterodimer to form a heterotrimeric KIF3 complex and may regulate the membrane binding of this complex (By similarity)., [UniProtKB]; LncRNA KIFAP3-5:1 inhibits epithelial-mesenchymal transition of renal tubular cell through PRRX1 in diabetic nephropathy. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of KAP3 decreases intercellular adhesion and impairs intracellular transport of laminin in signet ring cell carcinoma of the stomach. Publication Status: Online-Only, [RefSeq, PubMed]; Novel regulatory roles of small G protein GDP dissociation stimulator (smgGDS) in insulin secretion from pancreatic beta-cells., [RefSeq, PubMed]; The small G protein GDP dissociation stimulator (smg GDS) is a regulator protein having two activities on a group of small G proteins including the Rho and Rap1 family members and Ki-Ras; one is to stimulate their GDP/GTP exchange reactions, and the other is to inhibit their interactions with membranes. The protein encoded by this gene contains 9 'Armadillo' repeats and interacts with the smg GDS protein through these repeats. This protein, which is highly concentrated around the endoplasmic reticulum, is phosphorylated by v-src, and this phosphorylation reduces the affinity of the protein for smg GDS. It is thought that this protein serves as a linker between human chromosome-associated polypeptide (HCAP) and KIF3A/B, a kinesin superfamily protein in the nucleus, and that it plays a role in the interaction of chromosomes with an ATPase motor protein. Several transcript variants encoding different isoforms have been found for this gene. [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1AKU4;B1AKU5;B2RDL1;B7Z8A3;F5H591;Q8NHU7;Q9H416", "ec_number_list": "", "go_molecular_function": "GO:0019894 kinesin binding;GO:0019903 protein phosphatase binding;GO:0120170 intraciliary transport particle B binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000794 condensed nuclear chromosome;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005813 centrosome", "go_biological_process": "GO:0007165 signal transduction;GO:0007018 microtubule-based movement;GO:0072383 plus-end-directed vesicle transport along microtubule;GO:0098971 anterograde dendritic transport of neurotransmitter receptor complex;GO:0044782 cilium organization", "synthesized_glycan_count": 0, "hit_score": 32.8, "record_id": "Q92845-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96J84-1", "uniprot_id": "KIRR1_HUMAN", "mass": 83536.0, "length": 757, "protein_name": "Kin of IRRE-like protein 1", "gene_name": "KIRREL1", "organism": "Human", "refseq_name": "kin of IRRE-like protein 1 isoform 2 precursor", "refseq_ac": "NP_001273278", "gene_names_uniprotkb": "KIRREL1; KIRREL; NEPH1", "gene_names_refseq": "KIRREL1; KIRREL; NEPH1; NPHS23", "protein_names_uniprotkb": "Kin of IRRE-like protein 1; Kin of irregular chiasm-like protein 1; Nephrin-like protein 1", "protein_names_refseq": "kin of IRRE like; kin of IRRE-like protein 1 isoform 2 precursor; kin of IRRE-like protein 1; kin of irregular chiasm-like protein 1; nephrin related; nephrin-like protein 1", "tax_id": 9606, "disease": "nephrotic syndrome type 23 (Disease Ontology:DOID:0112266); nephrotic syndrome (Disease Ontology:DOID:1184); kidney disease (Disease Ontology:DOID:557)", "pathway": " (hsa:55243); (R-HSA-373753)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10393930;10541305;10611248;11237011;11340081;11416156;11562357;11733557;12660326;12668668;12846735;12865409;14570703;14633607;15144186;15331416;15545998;15579503;15634346;15843475;15994232;16525419;16543952;16630808;17893108;17923684;18033240;18258597;19007248;19159218;19443634;20233749;23090970;23186163;23584533;24190977;25645385;27600516;29242379;29786170;30429286;31020640;31154438;31472902;31844290;31848261;32157095;32350084;32488085;32938616;33592498;33968037;34019948;35051231;35177623;35251023;35561310;35580925;36010968;36044856;36284347;37074911;37909722;37938771;38665916", "class_list": "", "function": "Cell adhesion molecule KIRREL1 is a feedback regulator of Hippo signaling recruiting SAV1 to cell-cell contact sites. Publication Status: Online-Only, [RefSeq, PubMed]; KIRREL promotes the proliferation of gastric cancer cells and angiogenesis through the PI3K/AKT/mTOR pathway., [RefSeq, PubMed]; NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]., [RefSeq]; Required for proper function of the glomerular filtration barrier. It is involved in the maintenance of a stable podocyte architecture with interdigitating foot processes connected by specialized cell-cell junctions, known as the slit diaphragm (PubMed:31472902). It is a signaling protein that needs the presence of TEC kinases to fully trans-activate the transcription factor AP-1 (By similarity)., [UniProtKB, PubMed]; Transmembrane protein KIRREL1 regulates Hippo signaling via a feedback loop and represents a therapeutic target in YAP/TAZ-active cancers., [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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 3, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q5W0F8;Q5XKC6;Q7Z696;Q7Z7N8;Q8TB15;Q9H9N1;Q9NVA5", "ec_number_list": "", "go_molecular_function": "GO:0050839 cell adhesion molecule binding;GO:0017022 myosin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0043198 dendritic shaft;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0098609 cell-cell adhesion;GO:0003094 glomerular filtration;GO:0045217 cell-cell junction maintenance", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q96J84-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96L93-1", "uniprot_id": "KI16B_HUMAN", "mass": 152011.0, "length": 1317, "protein_name": "Kinesin-like protein KIF16B", "gene_name": "KIF16B", "organism": "Human", "refseq_name": "kinesin-like protein KIF16B isoform 3", "refseq_ac": "NP_001186794", "gene_names_uniprotkb": "KIF16B; C20orf23; KIAA1590; SNX23", "gene_names_refseq": "C20orf23; KIF16B; KISC20ORF; SNX23", "protein_names_uniprotkb": "Kinesin-like protein KIF16B; Sorting nexin-23", "protein_names_refseq": "kinesin motor protein; kinesin-like protein KIF16B isoform 3; kinesin-like protein KIF16B; sorting nexin 23; testis secretory sperm-binding protein Li 201a", "tax_id": 9606, "disease": "", "pathway": " (hsa:55614); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 3, "publication_count": 152, "publication_id_list": "10052452;10318838;10445031;10559959;10761932;10921873;11172815;11237011;11493604;11689559;11703931;11726511;11739780;11748249;11782313;12047556;12070132;12368902;1406973;14504276;14654841;15029241;15037235;15272311;15326200;15616190;15632110;15813748;15882625;16030262;1607388;16262723;1631136;16571679;16633337;1680566;16912714;16926190;16940185;16959974;17113389;17253781;17346968;17360540;17429068;17451557;17538014;17641687;17760859;17927562;17956946;18182008;18287528;18342609;18445686;18524849;18809720;1898986;19015319;19109418;19116309;19151722;19164740;19338388;19369418;1957170;19631211;19758564;20005805;20068231;20136777;20357002;20427317;20462495;20534429;20637885;20923765;20934997;21219331;2142332;21550981;21689688;21844168;22013193;22094269;22304919;23186163;23396477;23749212;2521221;2522352;25364732;25436559;25492864;25576301;25892735;26992070;27862975;27893789;27920218;28218747;28832583;29242379;29393594;29437277;29632046;29736960;30429286;30833945;31154438;3130248;3134048;31618441;31848261;32157095;32350084;32387766;32502341;32897882;32938616;33691108;33912179;33968037;34357683;34509645;35051231;35251023;35580925;36010968;37696580;7528108;7539720;7822426;7844144;7929562;8001155;8128252;8132710;8221884;8253837;8505331;8548803;8599929;8602245;8620540;9114004;9177194;9244307;9288971;9405360;9751720;9990005", "class_list": "", "function": "KIF16B drives MT1-MMP recycling in macrophages and promotes co-invasion of cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; KIF16B mutation is associated with autosomal-recessive intellectual disability syndrome., [RefSeq, PubMed]; KIF16B, a kinesin-3, transports early endosomes to the plus end of microtubules in a process regulated by the small GTPase Rab5 and its effector., [RefSeq, PubMed]; Novel genetic variants in KIF16B and NEDD4L in the endosome-related genes are associated with nonsmall cell lung cancer survival., [RefSeq, PubMed]; Plus end-directed microtubule-dependent motor protein involved in endosome transport and receptor recycling and degradation. Regulates the plus end motility of early endosomes and the balance between recycling and degradation of receptors such as EGF receptor (EGFR) and FGF receptor (FGFR). Regulates the Golgi to endosome transport of FGFR-containing vesicles during early development, a key process for developing basement membrane and epiblast and primitive endoderm lineages during early postimplantation development., [UniProtKB, PubMed, UniProtKB, UniProtKB]; The kinesin KIF16B mediates apical transcytosis of transferrin receptor in AP-1B-deficient epithelia., [RefSeq, PubMed]; The protein encoded by this gene is a kinesin-like protein that may be involved in intracellular trafficking. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 9, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NKJ9;A7E2A8;B1AKG3;B1AKT7;C9JDN5;C9JI52;C9JSM8;C9JWJ7;Q2TBF5;Q5HYC0;Q5HYK1;Q5JWW3;Q5TFK5;Q86VL9;Q86YS5;Q8IYU0;Q9BQJ8;Q9BQM0;Q9BQM1;Q9BQM5;Q9H5U0;Q9HCI2;Q9NXN9", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0008017 microtubule binding;GO:0043325 phosphatidylinositol-3,4-bisphosphate binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005769 early endosome;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:0001919 regulation of receptor recycling;GO:0007173 epidermal growth factor receptor signaling pathway;GO:0045022 early endosome to late endosome transport;GO:0006895 Golgi to endosome transport;GO:0007492 endoderm development", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "Q96L93-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PQ7-1", "uniprot_id": "KLHL5_HUMAN", "mass": 84457.0, "length": 755, "protein_name": "Kelch-like protein 5", "gene_name": "KLHL5", "organism": "Human", "refseq_name": "kelch-like protein 5 isoform 1", "refseq_ac": "NP_001007076", "gene_names_uniprotkb": "KLHL5", "gene_names_refseq": "KLHL5", "protein_names_uniprotkb": "Kelch-like protein 5", "protein_names_refseq": "kelch-like protein 5 isoform 1; kelch-like protein 5; lymphocyte activation-associated protein", "tax_id": 9606, "disease": "cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:51088); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 178, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11590829;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14672410;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24397554;24636985;24793695;24793696;25314029;25349211;25355947;25505266;25531226;26154972;26344709;26460955;26632597;26906416;27030794;27222660;27565346;27846572;28115426;28228285;28832583;28904123;29153394;29242379;29314611;29393594;29493099;29557506;29632711;29786170;30315122;30524438;30610225;31652307;31844290;32005965;32157095;32284348;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33444648;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34509645;35051231;35318648;35561310;35580925;36010968;36215666;36241641;37938771;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Data report a novel splicing variant of KLHL5, named KLHL5b, and describe its expression pattern in many tissues., [RefSeq, PubMed]; KLHL5/Cul3-based E3 ubiquitin ligase complex is important for regulation of SK1 protein stability via Lys183 ubiquitination., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A8K170;B7WP68;E9PCF4;F8WAE7;G3XA92;Q6Y881;Q86XW0;Q9NUK3;Q9NV27;Q9NVA9;Q9Y2X2", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0015630 microtubule cytoskeleton;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 17.9, "record_id": "Q96PQ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96Q89-1", "uniprot_id": "KI20B_HUMAN", "mass": 210629.0, "length": 1820, "protein_name": "Kinesin-like protein KIF20B", "gene_name": "KIF20B", "organism": "Human", "refseq_name": "kinesin-like protein KIF20B isoform 1", "refseq_ac": "NP_001271188", "gene_names_uniprotkb": "KIF20B; KRMP1; MPHOSPH1", "gene_names_refseq": "CT90; KIF20B; KRMP1; MPHOSPH1; MPP-1; MPP1", "protein_names_uniprotkb": "Kinesin-like protein KIF20B; CT90; Cancer/testis antigen 90; Kinesin family member 20B; Kinesin-related motor interacting with PIN1; M-phase phosphoprotein 1; MPP1", "protein_names_refseq": "M-phase phosphoprotein 1; cancer/testis antigen 90; kinesin-like protein KIF20B isoform 1; kinesin-like protein KIF20B; kinesin-related motor interacting with PIN1; mitotic kinesin-like protein; mitotic kinesin-related protein", "tax_id": 9606, "disease": "microcephaly (Disease Ontology:DOID:10907)", "pathway": " (hsa:9585); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 3, "publication_count": 220, "publication_id_list": "10.1101/2023.09.13.557529;10052452;10318838;10445031;10559959;10695267;10761932;10921873;11172815;11230166;11237011;11470801;11493604;11689559;11703931;11726511;11739780;11748249;11782313;12047556;12070132;12368902;12740395;1406973;14504276;14654841;15029241;15037235;15272311;15326200;15616190;15632110;15813748;16030262;1607388;16262723;1631136;16571679;16633337;1680566;16912714;16926190;16940185;17113389;17253781;17346968;17360540;17409436;17429068;17451557;17525332;17538014;17760859;17927562;17956946;18182008;18287528;18342609;18524849;18809720;1898986;19015319;19109418;19116309;19151722;19164740;19338388;19369418;1957170;19631211;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21219331;21406692;2142332;21550981;21689688;21844168;21872626;21993680;22013193;22094269;22304919;22424782;22706990;23186163;23301498;23396477;23481700;24366607;24397554;24714562;24715725;2521221;2522352;25364732;25418920;25436559;25492864;25576301;25645385;25892735;26154972;26375851;26477546;26728094;26811146;26929215;26992070;27072896;27600516;27846572;27920218;28218747;28228285;28411811;28446606;28649982;28832583;28834231;28904123;29237092;29242379;29393594;29437277;29493099;29508533;29557506;29573464;29632046;29632711;29769354;29971464;30192525;30315122;30379171;30410026;30429286;30459171;30484775;30524438;30664160;30804394;30833945;31092671;31217245;31222486;3130248;3134048;31530632;31844290;31848261;31937595;32157095;32161166;32265295;32357974;32387766;32488085;32500232;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34211107;34509645;34932366;35051231;35289036;35561310;35580925;36010968;36215666;36241641;38305288;38426627;38838015;7528108;7539720;7822426;7844144;7929562;8001155;8128252;8132710;8221884;8253837;8290587;8505331;8548803;8599929;8602245;8620540;9114004;9177194;9244307;9288971;9405360;9751720;9990005", "class_list": "", "function": "Characterization of KIF20B as a novel prognostic biomarker and therapeutic target for breast cancer., [RefSeq, PubMed]; KIF20B Correlates with LUAD Progression and Is an Independent Risk Factor., [RefSeq, PubMed]; KIF20B may be a potential biomarker and promising treatment target for CRC., [RefSeq, PubMed]; MPP1 is a new mitotic molecular motor required for completion of cytokinesis, [RefSeq, PubMed]; Plus-end-directed motor enzyme that is required for completion of cytokinesis (PubMed:11470801, PubMed:12740395). Required for proper midbody organization and abscission in polarized cortical stem cells. Plays a role in the regulation of neuronal polarization by mediating the transport of specific cargos. Participates in the mobilization of SHTN1 and in the accumulation of PIP3 in the growth cone of primary hippocampal neurons in a tubulin and actin-dependent manner. In the developing telencephalon, cooperates with SHTN1 to promote both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex. Involved in cerebral cortex growth (By similarity). Acts as an oncogene for promoting bladder cancer cells proliferation, apoptosis inhibition and carcinogenic progression (PubMed:17409436)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The high level of KIF20B in oral squamous cell carcinoma was significantly associated with poor clinicopathological features and survival. KIF20B might promote cancer development through enhancing cell proliferation in vitro, and might be a potential biomarker of oral squamous cell carcinoma., [RefSeq, PubMed]; USP7 Regulates Cytokinesis through FBXO38 and KIF20B. 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": 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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A8MXM7;O43277;Q09471;Q2KQ73;Q32NE1;Q561V3;Q58EX8;Q5T9M8;Q5T9M9;Q5T9N0;Q5T9N1;Q7KZ68;Q7Z5E0;Q7Z5E1;Q7Z6M9;Q86X82;Q9H3R8;Q9H6Q9;Q9H755;Q9NTC1;Q9UFR5", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0042803 protein homodimerization activity;GO:0016887 ATP hydrolysis activity;GO:0050699 WW domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:1903438 positive regulation of mitotic cytokinetic process;GO:0008284 positive regulation of cell population proliferation;GO:0051301 cell division;GO:0090316 positive regulation of intracellular protein transport;GO:0048812 neuron projection morphogenesis", "synthesized_glycan_count": 0, "hit_score": 23.4, "record_id": "Q96Q89-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9C0H6-1", "uniprot_id": "KLHL4_HUMAN", "mass": 80245.0, "length": 718, "protein_name": "Kelch-like protein 4", "gene_name": "KLHL4", "organism": "Human", "refseq_name": "kelch-like protein 4 isoform 1", "refseq_ac": "NP_061990", "gene_names_uniprotkb": "KLHL4; KIAA1687", "gene_names_refseq": "DKELCHL; KHL4; KLHL4", "protein_names_uniprotkb": "Kelch-like protein 4", "protein_names_refseq": "kelch-like protein 4 isoform 1; kelch-like protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:56062)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11401425;18669648;21872626;28514659;29393594;29557506;30833945;31092671;31154438;31844290;32753315;32983136;33141586;33298915;33592498;33968037;34171305;35051231;35318648;35580925;36010968;36241641", "class_list": "", "function": "KLHL4, a novel p53 target gene, inhibits cell proliferation by activating p21(WAF/CDKN1A)., [RefSeq, PubMed]; This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [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": 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": "B2RTW2;Q9Y3J5", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005929 cilium;GO:0015630 microtubule cytoskeleton;GO:0045171 intercellular bridge;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9C0H6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H1H9-1", "uniprot_id": "KI13A_HUMAN", "mass": 202308.0, "length": 1805, "protein_name": "Kinesin-like protein KIF13A", "gene_name": "KIF13A", "organism": "Human", "refseq_name": "kinesin-like protein KIF13A isoform b", "refseq_ac": "NP_001099036", "gene_names_uniprotkb": "KIF13A; RBKIN", "gene_names_refseq": "KIF13A; RBKIN; bA500C11.2", "protein_names_uniprotkb": "Kinesin-like protein KIF13A; Kinesin-like protein RBKIN", "protein_names_refseq": "homolog of mouse KIF13A mannose-6-phosphate receptor transporter; kinesin-like protein KIF13A isoform b; kinesin-like protein RBKIN", "tax_id": 9606, "disease": "", "pathway": " (hsa:63971); (R-HSA-390471)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "11106728;11237011;11374900;11861365;12502735;18669648;18775504;19011634;19413330;19664994;19664995;19841138;20058876;20068231;20208530;21098288;21995946;23186163;23747015;24714562;24756126;25342745;25467444;25645385;26768311;27600516;28218747;28228285;28832583;28855257;28904123;29242379;29393594;29437277;29508533;29557506;29786170;30429286;30524438;30620550;31844290;32157095;32488085;32897882;32938616;32983136;33526817;33592498;33968037;33981976;34087483;34171305;34405274;35051231;35122963;35254053;35494241;35580925;36010968;36215666;36284347;36461607;37938771;38709923;9819444", "class_list": "", "function": "Coordination of two kinesin superfamily motor proteins, KIF3A and KIF13A, is essential for pericellular matrix degradation by membrane-type 1 matrix metalloproteinase (MT1-MMP) in cancer cells., [RefSeq, PubMed]; Fibronectin 1 derived from tumor-associated macrophages and fibroblasts promotes metastasis through the JUN pathway in hepatocellular carcinoma., [RefSeq, PubMed]; Functionally characterizes the homologous mouse protein., [RefSeq, PubMed]; MARK2 phosphorylates KIF13A at a 14-3-3 binding site to polarize vesicular transport of transferrin receptor within dendrites., [RefSeq, PubMed]; Plus end-directed microtubule-dependent motor protein involved in intracellular transport and regulating various processes such as mannose-6-phosphate receptor (M6PR) transport to the plasma membrane, endosomal sorting during melanosome biogenesis and cytokinesis. Mediates the transport of M6PR-containing vesicles from trans-Golgi network to the plasma membrane via direct interaction with the AP-1 complex. During melanosome maturation, required for delivering melanogenic enzymes from recycling endosomes to nascent melanosomes by creating peripheral recycling endosomal subdomains in melanocytes. Also required for the abscission step in cytokinesis: mediates translocation of ZFYVE26, and possibly TTC19, to the midbody during cytokinesis., [UniProtKB, PubMed, PubMed]; Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndrome., [RefSeq, PubMed]; PtdIns(3)P production is essential for proper cytokinesis. PtdIns(3)P-binding centrosomal protein FYVE-CENT and TTC19 control cytokinesis through their translocation from the centrosome to the midbody mediated by the kinesin protein KIF13A., [RefSeq, PubMed]; Show that the clathrin adaptor AP-1 and the kinesin motor KIF13A together create peripheral recycling endosomal subdomains in melanocytes required for cargo delivery to maturing melanosomes., [RefSeq, PubMed]; This gene encodes a member of the kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containing vesicles from the trans-Golgi network to the plasma membrane, and it is necessary for the steady-state distribution of late endosomes/lysosomes. It is also required for the translocation of FYVE-CENT and TTC19 from the centrosome to the midbody during cytokinesis, and it plays a role in melanosome maturation. Alternative splicing of this gene results in multiple transcript variants. [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": 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": 39, "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": "A0JP21;A0JP22;F2Z382;Q5THQ2;Q5THQ3;Q9H193;Q9H194;Q9H1H8", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity;GO:0003777 microtubule motor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005874 microtubule;GO:0032588 trans-Golgi network membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0051301 cell division;GO:0008333 endosome to lysosome transport;GO:0007018 microtubule-based movement;GO:0032438 melanosome organization", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q9H1H9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O96009-1", "uniprot_id": "NAPSA_HUMAN", "mass": 45387.0, "length": 420, "protein_name": "Napsin-A", "gene_name": "NAPSA", "organism": "Human", "refseq_name": "napsin-A isoform 1 preproprotein", "refseq_ac": "NP_004842", "gene_names_uniprotkb": "NAPSA; NAP1; NAPA", "gene_names_refseq": "KAP; Kdap; NAP1; NAPA; NAPSA; NR1H2-AS1; SNAPA", "protein_names_uniprotkb": "Napsin-A; 3.4.23.-; ASP4; Asp 4; Aspartyl protease 4; Napsin-1; TA01/TA02", "protein_names_refseq": "ASP4; NR1H2 antisense RNA 1; TA01/TA02; asp 4; aspartyl protease 4; kidney-derived aspartic protease-like protein; napsin-1; napsin-A isoform 1 preproprotein; napsin-A; pronapsin A", "tax_id": 9606, "disease": "", "pathway": " (hsa:9476); (R-HSA-5683826)", "pathway_count": 2, "publication_count": 106, "publication_id_list": "10368295;10485905;10496952;10580105;10591213;10625644;11237011;11278984;11563989;12185598;12882447;1325798;1339284;1415726;1568474;15926889;16006481;16199866;1636732;16423266;16630564;17496061;17975675;18020944;18512783;18692472;1898081;19100526;19144824;1928448;19824815;20054143;20147294;20338813;20418254;22156835;23069847;23590306;23684610;23922714;24190977;24366607;24743970;2515193;25418920;25424900;2587265;25880248;2610270;26154972;26811146;26992070;27452731;27846572;27920218;28063628;28834231;28855257;29242379;29317506;29393594;29437277;29493099;29557506;29632046;2995821;30315122;3037072;30410026;31844290;32157095;32265295;32357974;32387766;32502341;33247694;33298915;3366248;33691108;33876717;33912179;33936100;33968037;34357683;34405274;34433824;34509645;34631;34932366;35051231;35318648;35561310;35580925;35696768;37074911;3755136;3801783;40596516;7597036;8314870;8428971;8522976;8527267;8636114;9813380;9877162", "class_list": "", "function": "A study on the immunohistochemical expression of napsin A in oral squamous cell carcinomas, intraepithelial neoplasia, and normal oral mucosa., [RefSeq, PubMed]; May be involved in processing of pneumocyte surfactant precursors., [UniProtKB, UniProtKB, UniProtKB]; Napsin A is a useful marker that can assist in the diagnosis of both lung adenocarcinomas and renal cell carcinomas[review] Review article, [RefSeq, PubMed]; P504S/alpha-methylacyl-CoA racemase, HNF1beta and napsin A in morular metaplasia and clear cell carcinoma of the endometrium: An immunohistochemical analysis., [RefSeq, PubMed]; Role of Napsin A and Survivin Immunohistochemical Expression in Bronchogenic Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein is proteolytically processed to generate an activation peptide and the mature protease. The activation peptides of aspartic proteinases function as inhibitors of the protease active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The encoded protease may play a role in the proteolytic processing of pulmonary surfactant protein B in the lung and may function in protein catabolism in the renal proximal tubules. This gene has been described as a marker for lung adenocarcinoma and renal cell carcinoma. [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": 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": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 77, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q8WWD9", "ec_number_list": "3.4.23.-;3.4.23.1", "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0008233 peptidase activity;GO:0004190 aspartic-type endopeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0005764 lysosome;GO:0097208 alveolar lamellar body;GO:0097486 multivesicular body lumen", "go_biological_process": "GO:0006508 proteolysis;GO:0043129 surfactant homeostasis;GO:0033619 membrane protein proteolysis", "synthesized_glycan_count": 0, "hit_score": 18.6, "record_id": "O96009-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6IQ20-1", "uniprot_id": "NAPEP_HUMAN", "mass": 45596.0, "length": 393, "protein_name": "N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D", "gene_name": "NAPEPLD", "organism": "Human", "refseq_name": "N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D isoform 1", "refseq_ac": "NP_001116310", "gene_names_uniprotkb": "NAPEPLD; C7orf18", "gene_names_refseq": "C7orf18; FMP30; NAPE-PLD; NAPEPLD", "protein_names_uniprotkb": "N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D; 3.1.4.54; N-acyl phosphatidylethanolamine phospholipase D; NAPE-PLD; NAPE-hydrolyzing phospholipase D", "protein_names_refseq": "N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D isoform 1; N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D; NAPE-hydrolyzing phospholipase D", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); osteoarthritis (Disease Ontology:DOID:8398); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:222236); (R-HSA-2466712)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "11237011;11756445;14611934;14634025;15820312;15949819;16527816;19715685;25684574;27571266;28218747;29437277;29652995;30399323;30410026;31844290;32350084;32357974;33968037;34357683;34932366;39999832;9778132", "class_list": "", "function": "D-type phospholipase that hydrolyzes N-acyl-phosphatidylethanolamines (NAPEs) to produce bioactive N-acylethanolamines/fatty acid ethanolamides (NAEs/FAEs) and phosphatidic acid (PubMed:14634025, PubMed:16527816, PubMed:25684574, PubMed:27571266). Cleaves the terminal phosphodiester bond of diacyl- and alkenylacyl-NAPEs, primarily playing a role in the generation of long-chain saturated and monounsaturated NAEs in the brain (By similarity). May control NAPE homeostasis in dopaminergic neuron membranes and regulate neuron survival, partly through RAC1 activation (By similarity). As a regulator of lipid metabolism in the adipose tissue, mediates the crosstalk between adipocytes, gut microbiota and immune cells to control body temperature and weight. In particular, regulates energy homeostasis by promoting cold-induced brown or beige adipocyte differentiation program to generate heat from fatty acids and glucose. Has limited D-type phospholipase activity toward N-acyl lyso-NAPEs (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; NAPE-PLD forms homodimers partly separated by an internal channel and uniquely adapted to associate with phospholipids., [RefSeq, PubMed]; NAPE-PLD is target of thiazide diuretics for hypertension. Its internal channel promotes transport of the cofactor PLP across cell membranes., [RefSeq, PubMed]; NAPEPLD is a phospholipase D type enzyme that catalyzes the release of N-acylethanolamine (NAE) from N-acyl-phosphatidylethanolamine (NAPE) in the second step of the biosynthesis of N-acylethanolamine (Okamoto et al., 2004 [PubMed 14634025]).[supplied by OMIM, Oct 2008]., [RefSeq]; The AC genotype and C allele of NAPE-PLD rs12540583 locus are risk factors for schizophrenia., [RefSeq, PubMed]; The human NAPE-PLD was activated by phosphatidylethanolamine and inhibited by the beta-lactamase substrate nitrocefin., [RefSeq, PubMed]; Transcriptome analysis revealed that deletion of NAPE-PLD activates a transcriptional program for nutrient transportation, including lipids and lipoproteins, and inactivates cell-cycle or mitosis-related genes in Caco-2 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": 5, "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": "Q5CZ87;Q769K1", "ec_number_list": "3.1.4.54;3.1.4.-", "go_molecular_function": "GO:0070290 N-acylphosphatidylethanolamine-specific phospholipase D activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0032052 bile acid binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005769 early endosome", "go_biological_process": "GO:0070291 N-acylethanolamine metabolic process;GO:1903999 negative regulation of eating behavior;GO:0001659 temperature homeostasis;GO:0035900 response to isolation stress;GO:0045471 response to ethanol", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q6IQ20-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6P3R8-1", "uniprot_id": "NEK5_HUMAN", "mass": 81445.0, "length": 708, "protein_name": "Serine/threonine-protein kinase Nek5", "gene_name": "NEK5", "organism": "Human", "refseq_name": "serine/threonine-protein kinase Nek5 isoform 1", "refseq_ac": "NP_954983", "gene_names_uniprotkb": "NEK5", "gene_names_refseq": "NEK5", "protein_names_uniprotkb": "Serine/threonine-protein kinase Nek5; 2.7.11.1; Never in mitosis A-related kinase 5; NimA-related protein kinase 5", "protein_names_refseq": "NIMA (never in mitosis gene a)-related kinase 5; nimA-related protein kinase 5; serine/threonine-protein kinase Nek5 isoform 1; serine/threonine-protein kinase Nek5", "tax_id": 9606, "disease": "", "pathway": " (hsa:341676)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17287340;17344846;25725288;25963817;28832583;29557506;30379171;30675923;31090963;31429579;32157095;32196601;32350084;33392160;33547867;33749548;34196902;36550548;41018975", "class_list": "", "function": "Data show that up-regulated NEK5 was significantly associated with breast tumor progression and poor overall prognosis; and that silencing of NEK5 can significantly suppress the proliferation both in vivo and in vitro, inhibiting migration, and invasion. NEK5 can up-regulate Cyclin A2 by direct interaction., [RefSeq, PubMed]; Identification of biological pathways and processes regulated by NEK5 in breast epithelial cells via an integrated proteomic approach. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of lncRNA XIST inhibits hypoxia-induced glycolysis, migration and invasion through regulating miR-381-3p/NEK5 axis in nasopharyngeal carcinoma., [RefSeq, PubMed]; NEK5 activity regulates the mesenchymal and migratory phenotype in breast cancer cells., [RefSeq, PubMed]; NEK5 interacts with LonP1 and its kinase activity is essential for the regulation of mitochondrial functions and mtDNA maintenance., [RefSeq, PubMed]; NEK5 interacts with topoisomerase IIbeta and is involved in the DNA damage response induced by etoposide., [RefSeq, PubMed]; Nek5 is required for the loss of centrosome linker proteins and enhanced microtubule nucleation that lead to timely centrosome separation and bipolar spindle formation in mitosis, [RefSeq, PubMed]; Targeting Never-In-Mitosis-A Related Kinase 5 in Cancer: A Review. Review article, [RefSeq, PubMed]; The hNek5 is mitochondrial localization and its role on cell death and cell respiration defects through COX11, MTX2 and BCLAF1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5TAP5", "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:0046872 metal ion binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005929 cilium;GO:0036126 sperm flagellum", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q6P3R8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "E9PKD4-1", "uniprot_id": "NPIA5_HUMAN", "mass": 40105.0, "length": 350, "protein_name": "Nuclear pore complex-interacting protein family member A5", "gene_name": "NPIPA5", "organism": "Human", "refseq_name": "nuclear pore complex-interacting protein family member A5 isoform 1", "refseq_ac": "NP_001264254", "gene_names_uniprotkb": "NPIPA5", "gene_names_refseq": "NPIPA5; NPIP", "protein_names_uniprotkb": "Nuclear pore complex-interacting protein family member A5", "protein_names_refseq": "nuclear pore complex-interacting protein family member A5 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100288332)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "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": 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": "Q0P618", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "E9PKD4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00217-1", "uniprot_id": "NDUS8_HUMAN", "mass": 23705.0, "length": 210, "protein_name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial", "gene_name": "NDUFS8", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial precursor", "refseq_ac": "NP_002487", "gene_names_uniprotkb": "NDUFS8", "gene_names_refseq": "CI-23k; CI23KD; MC1DN2; NDUFS8; TYKY", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial; 7.1.1.2; CI-23kD; Complex I-23kD; NADH-ubiquinone oxidoreductase 23 kDa subunit; TYKY subunit", "protein_names_refseq": "NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase); NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial precursor; NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial; NADH-ubiquinone oxidoreductase 23 kDa subunit; complex I 23kDa subunit; complex I-23kD", "tax_id": 9606, "disease": "nuclear type mitochondrial complex I deficiency 2 (Disease Ontology:DOID:0112083); Leigh disease (Disease Ontology:DOID:3652); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:4728); (R-HSA-611105); (R-HSA-6799198)", "pathway_count": 3, "publication_count": 106, "publication_id_list": "10327278;11220739;11237011;11695836;12231006;12611891;12837546;1327877;14741580;15159508;15250827;16142472;16230336;17033964;17936786;186667;19752196;20068231;20406883;20552642;20858599;21924235;22499348;23150584;23270816;23481700;23553477;23564345;23747254;239860;24191001;24715725;25418920;25564869;25576301;25645385;25678554;25892735;26154972;26375851;26992070;27499296;27600516;27626371;28218747;28489076;28510447;28832583;28904123;29242379;29393594;29437277;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30429286;30524438;31154438;31222486;31536960;31666358;31844290;31866046;31937595;31998317;32157095;32320651;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33592498;33717175;33879611;33882309;33968037;33981976;34087483;34357683;34405274;34509645;35051231;35333655;35580925;35614220;36010968;36215666;36241641;36284347;37938771;38199007;38594244;4288886;9116042;9571201;9666055;9837812;9878551", "class_list": "", "function": "Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:22499348). Essential for the catalytic activity and assembly of complex I (PubMed:22499348)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The requirement of the mitochondrial protein NDUFS8 for angiogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RB86;Q0VDA8", "ec_number_list": "7.1.1.2;3.6.4.10;2.1.1.-;1.-.-.-;2.1.1.320;1.3.8.7;1.3.8.8", "go_molecular_function": "GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0008137 NADH dehydrogenase (ubiquinone) activity;GO:0016651 oxidoreductase activity, acting on NAD(P)H", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0045271 respiratory chain complex I;GO:0016020 membrane", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0009060 aerobic respiration;GO:0022904 respiratory electron transport chain", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "O00217-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P78426-1", "uniprot_id": "NKX61_HUMAN", "mass": 37849.0, "length": 367, "protein_name": "Homeobox protein Nkx-6.1", "gene_name": "NKX6-1", "organism": "Human", "refseq_name": "homeobox protein Nkx-6.1", "refseq_ac": "NP_006159", "gene_names_uniprotkb": "NKX6-1; NKX6A", "gene_names_refseq": "NKX6-1; NKX6.1; NKX6A", "protein_names_uniprotkb": "Homeobox protein Nkx-6.1; Homeobox protein NK-6 homolog A", "protein_names_refseq": "NK homeo box, family 6, member A; NK homeobox, family 6, A; NK6 transcription factor homolog A; NK6 transcription factor related, locus 1; homeobox protein NK-6 homolog A; homeobox protein Nkx-6.1", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:4825); (R-HSA-210745); (R-HSA-210747); (R-HSA-9925561); (R-HSA-9925563); (R-HSA-9937080)", "pathway_count": 6, "publication_count": 18, "publication_id_list": "11237011;15056733;16873704;24129315;29557506;32387766;32862769;32938616;33121533;33906647;34171305;34493754;34509645;35051231;35256556;36215666;36241641;9119408", "class_list": "", "function": "In the pancreas, NKX6.1 is required for the development of beta cells and is a potent bifunctional transcription regulator that binds to AT-rich sequences within the promoter region of target genes Iype et al. (2004) [PubMed 15056733].[supplied by OMIM, Mar 2008]., [RefSeq]; Increased NKX6.1 expression and decreased ARX expression in alpha cells accompany reduced beta-cell volume in human subjects. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-190b impedes pancreatic beta cell proliferation and insulin secretion by targeting NKX6-1 and may associate to gestational diabetes mellitus., [RefSeq, PubMed]; NKX6-1 Is a Less Sensitive But Specific Biomarker of Chromophobe Renal Cell Carcinoma., [RefSeq, PubMed]; NKX6-1 mediates cancer stem-like properties and regulates sonic hedgehog signaling in leiomyosarcoma. Publication Status: Online-Only, [RefSeq, PubMed]; NKX6.1 transcription factor: a crucial regulator of pancreatic beta cell development, identity, and proliferation. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Nkx6.1 is a bifunctional transcription factor that serves to maintain the specific expression of its own gene during beta-cell differentiation while simultaneously effecting broader gene repression events, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Transcription factor which binds to specific A/T-rich DNA sequences in the promoter regions of a number of genes. Involved in the development of insulin-producing beta cells in the islets of Langerhans at the secondary transition (By similarity). Together with NKX2-2 and IRX3 acts to restrict the generation of motor neurons to the appropriate region of the neural tube. Belongs to the class II proteins of neuronal progenitor factors, which are induced by SHH signals (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": 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": "", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin 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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0070062 extracellular exosome;GO:0000785 chromatin", "go_biological_process": "GO:0072560 type B pancreatic cell maturation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0032024 positive regulation of insulin secretion", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "P78426-1", "record_type": "protein" }, { "uniprot_canonical_ac": "F8WFD2-1", "uniprot_id": "NPIA3_HUMAN", "mass": 40061.0, "length": 350, "protein_name": "Nuclear pore complex-interacting protein family member A3", "gene_name": "NPIPA3", "organism": "Human", "refseq_name": "nuclear pore complex-interacting protein family member A3 isoform 2", "refseq_ac": "NP_001264252", "gene_names_uniprotkb": "NPIPA3", "gene_names_refseq": "NPIPA3", "protein_names_uniprotkb": "Nuclear pore complex-interacting protein family member A3", "protein_names_refseq": "nuclear pore complex-interacting protein family member A3 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:642778)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "F8WFD2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9ULX3-1", "uniprot_id": "NOB1_HUMAN", "mass": 46675.0, "length": 412, "protein_name": "RNA-binding protein NOB1", "gene_name": "NOB1", "organism": "Human", "refseq_name": "RNA-binding protein NOB1", "refseq_ac": "NP_054781", "gene_names_uniprotkb": "NOB1; ART4; MSTP158; NOB1P; PSMD8BP1", "gene_names_refseq": "ART-4; MST158; MSTP158; NOB1P; NOB1; PSMD8BP1", "protein_names_uniprotkb": "RNA-binding protein NOB1; 3.1.-.-; Phosphorylation regulatory protein HP-10; Protein ART-4", "protein_names_refseq": "NIN1/PSMD8 binding protein 1 homolog; PSMD8 binding protein 1; RNA-binding protein NOB1; adenocarcinoma antigen recognized by T lymphocytes 4; nin one binding protein; phosphorylation regulatory protein HP-10; protein ART-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:28987); (R-HSA-6791226)", "pathway_count": 2, "publication_count": 147, "publication_id_list": "11237011;11922599;12068309;12150911;12753654;12886526;15231747;16037817;16043514;16172919;16738141;17081983;17189298;17322306;17353269;17412707;1791827;18065403;18438418;18452278;18669648;18691976;18767875;19007248;19106111;19332556;19413330;19415658;19564402;19651622;19690332;19801658;20038530;20056613;20068231;20166139;20230923;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21406692;22072790;22190735;22195017;22645359;22898188;22916032;23186163;23439679;23481700;23482395;2388630;24275569;24366607;24424021;24550520;24714562;24715725;25418920;25525153;25576301;25645385;25880248;25892735;25969445;26154972;26237581;26375851;26728094;26811146;26929215;26992070;27846572;27862975;27920218;28063628;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29790264;29875412;30315122;30429286;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31906747;31937595;31998317;32157095;32265295;32357945;32357974;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34185709;34211107;34530115;34561969;34932366;35051231;35580925;36010968;36215666;36241641;36284347;37938771;40914422;9482744", "class_list": "", "function": "Cloning, expression and characterization of the human NOB1 gene and its products., [RefSeq, PubMed]; In yeast, over 200 protein and RNA cofactors are required for ribosome assembly, and these are generally conserved in eukaryotes. These factors orchestrate modification and cleavage of the initial 35S precursor rRNA transcript into the mature 18S, 5.8S, and 25S rRNAs, folding of the rRNA, and binding of ribosomal proteins and 5S RNA. Nob1 is involved in pre-rRNA processing. In a late cytoplasmic processing step, Nob1 cleaves a 20S rRNA intermediate at cleavage site D to produce the mature 18S rRNA (Lamanna and Karbstein, 2009 [PubMed 19706509]).[supplied by OMIM, Nov 2010]., [RefSeq]; LncRNA FEZF1-AS1 aggravates cell proliferation and migration in glioblastoma., [RefSeq, PubMed]; May play a role in mRNA degradation (Probable). Endonuclease required for processing of 20S pre-rRNA precursor and biogenesis of 40S ribosomal subunits (By similarity)., [UniProtKB, UniProtKB]; MiR-363 suppresses cell migration, invasion, and epithelial-mesenchymal transition of osteosarcoma by binding to NOB1. Publication Status: Online-Only, [RefSeq, PubMed]; Silencing NOB1 Can Affect Cell Proliferation and Apoptosis Via the C-Jun N-Terminal Kinase Pathway in Colorectal 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": 4, "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": "Q7L6B7;Q7M4M4;Q7Z4B5;Q9NWB0", "ec_number_list": "2.7.11.1;2.1.1.-;4.2.99.18;2.7.11.26;3.6.1.-;3.1.-.-", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0016787 hydrolase activity;GO:0004521 RNA endonuclease activity;GO:0046872 metal ion binding;GO:0004518 nuclease activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0030688 preribosome, small subunit precursor", "go_biological_process": "GO:0006364 rRNA processing;GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "Q9ULX3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75200-1", "uniprot_id": "NPIB7_HUMAN", "mass": 47714.0, "length": 414, "protein_name": "Nuclear pore complex-interacting protein family member B7", "gene_name": "NPIPB7", "organism": "Human", "refseq_name": "nuclear pore complex-interacting protein family member B7 precursor", "refseq_ac": "NP_001382959", "gene_names_uniprotkb": "NPIPB7; NPIPL1", "gene_names_refseq": "A-575C2.4; A-761H5.5; NPIPB7; NPIPL1", "protein_names_uniprotkb": "Nuclear pore complex-interacting protein family member B7; Nuclear pore complex-interacting protein-like 1", "protein_names_refseq": "nuclear pore complex-interacting protein family member B7 precursor; nuclear pore complex-interacting protein-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:440350)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;28489076", "class_list": "", "function": "", "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": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "E7ERT9", "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": "O75200-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HAS0-1", "uniprot_id": "NJMU_HUMAN", "mass": 44622.0, "length": 396, "protein_name": "Protein Njmu-R1", "gene_name": "C17orf75", "organism": "Human", "refseq_name": "protein Njmu-R1", "refseq_ac": "NP_071739", "gene_names_uniprotkb": "C17orf75", "gene_names_refseq": "C17orf75; NJMU-R1; SRI2", "protein_names_uniprotkb": "Protein Njmu-R1", "protein_names_refseq": "protein Njmu-R1; sensitization to ricin complex subunit 2; spermatogenesis-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:64149)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "11237011;18669648;19413330;22645359;23186163;23301498;23481700;24275569;24715725;25418920;25469497;25892735;26154972;26811146;26992070;27920218;28063628;28228285;28510447;28514659;28832583;29084197;29242379;29331515;29393594;29426865;29493099;29557506;29632046;30315122;30418433;31154438;31844290;31998317;32157095;32265295;32357974;32387766;32488085;32502341;32897882;33141586;33298915;33592498;33691108;33912179;33968037;34171305;34509645;34932366;35561310;35580925;40914422", "class_list": "", "function": "As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865). May have a role in 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z2H4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0031410 cytoplasmic vesicle;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0099041 vesicle tethering to Golgi", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9HAS0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15130-1", "uniprot_id": "NPFF_HUMAN", "mass": 12440.0, "length": 113, "protein_name": "Pro-FMRFamide-related neuropeptide FF", "gene_name": "NPFF", "organism": "Human", "refseq_name": "pro-FMRFamide-related neuropeptide FF isoform 2", "refseq_ac": "NP_001307225", "gene_names_uniprotkb": "NPFF", "gene_names_refseq": "FMRFAL; NPFF", "protein_names_uniprotkb": "Pro-FMRFamide-related neuropeptide FF; FMRFamide-related peptides", "protein_names_refseq": "pro-FMRFamide-related neuropeptide FF isoform 2; pro-FMRFamide-related neuropeptide FF", "tax_id": 9606, "disease": "", "pathway": " (hsa:8620); (R-HSA-389397); (R-HSA-416476)", "pathway_count": 3, "publication_count": 40, "publication_id_list": "10191087;10364220;10567430;10583376;10727532;10861009;11015615;11024015;11030716;11574155;11587714;11742120;11753430;12120503;12714592;15951850;16182515;16268778;16339447;16429482;16754659;16923326;18434541;18515384;18577758;18936096;1905813;26660531;2841328;3086311;34534716;35051231;38965251;39894887;7937899;8664309;9224703;9305846;9491897;9770463", "class_list": "", "function": "Morphine modulating peptides. Have wide-ranging physiologic effects, including the modulation of morphine-induced analgesia, elevation of arterial blood pressure, and increased somatostatin secretion from the pancreas. Neuropeptide FF potentiates and sensitizes ASIC1 and ASIC3 channels., [UniProtKB, PubMed]; Our results...highlight the neuropeptide FF-amide peptide encoding gene (NPFF) as a novel candidate risk gene for both migraine with aura and migraine without aura, [RefSeq, PubMed]; Renal autocrine neuropeptide FF (NPFF) signaling regulates blood pressure. Publication Status: Online-Only, [RefSeq, PubMed]; The distribution of Neuropeptide FF and Neuropeptide VF in central and peripheral tissues and their role in energy homeostasis control. Review article, [RefSeq, PubMed]; This gene encodes a member of the FMRFamide related peptide (FARP) family of neuropeptides. The encoded preproprotein is proteolytically processed to generate multiple amidated peptides. These peptides may play a role in the regulation of heart rate and blood pressure and the modulation of morphine-induced antinociception. Patients with hypertension exhibit decreased expression of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q3SXL4", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0001664 G protein-coupled receptor binding;GO:0005184 neuropeptide hormone activity;GO:0160041 neuropeptide activity", "go_cellular_component": "GO:0098992 neuronal dense core vesicle;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0030425 dendrite;GO:0043204 perikaryon", "go_biological_process": "GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007218 neuropeptide signaling pathway;GO:0021510 spinal cord development;GO:0045777 positive regulation of blood pressure;GO:0060079 excitatory postsynaptic potential", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "O15130-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43678-1", "uniprot_id": "NDUA2_HUMAN", "mass": 10922.0, "length": 99, "protein_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2", "gene_name": "NDUFA2", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 isoform 2", "refseq_ac": "NP_001171941", "gene_names_uniprotkb": "NDUFA2", "gene_names_refseq": "B8; CIB8; MC1DN13; NDUFA2", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2; CI-B8; Complex I-B8; NADH-ubiquinone oxidoreductase B8 subunit", "protein_names_refseq": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 isoform 2; NADH-ubiquinone oxidoreductase subunit CI-B8; complex I B8 subunit", "tax_id": 9606, "disease": "nuclear type mitochondrial complex I deficiency 13 (Disease Ontology:DOID:0112076); Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:4695); (R-HSA-611105); (R-HSA-6799198); (R-HSA-9837999)", "pathway_count": 4, "publication_count": 102, "publication_id_list": "10327278;11220739;11695836;11923310;12198491;12231006;12611891;12837546;1327877;14623864;14741580;15250827;15341729;15522782;15870080;16115876;16230336;16959974;17033964;17101804;17297443;17579211;17936786;18513682;186667;19752196;19841671;20068231;20406883;20552642;20858599;21924235;22262461;22710082;23150584;23201127;23270816;23553477;23564345;23747254;23931759;239860;24191001;24315374;24520911;25418920;25564869;25576301;25678554;26504172;26923599;27496948;27499296;27626371;27642048;28218747;28377575;28396416;28832583;28857146;28904123;29242379;29301859;29393594;29557506;29632711;29932645;30120231;30315122;30429286;31092671;31217245;31327635;31666358;31695197;31844290;31848261;31866046;32157095;32161166;32320651;33257573;33298915;33879611;33882309;34561969;34704252;34943861;35051231;35154160;35333655;35614220;35870450;36241641;36629048;38199007;38665916;4288886;7623837;9425316;9571201;9878551", "class_list": "", "function": "Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone., [UniProtKB, PubMed]; Review of a biorepository of patients with unsolved genetic leukoencephalopathies who underwent whole-exome or genome sequencing allowed us to identify a second patient with compound heterozygous mutations in NDUFA2. Only 1 other patient with mutations in NDUFA2 and a different phenotype (Leigh syndrome) has previously been reported. This is the first report of cystic leukoencephalopathy caused by mutations in NDUFA2., [RefSeq, PubMed]; Solution structure shows a thioredoxin fold with highest similarities to the human thioredoxin mutant C73S and thioredoxin 2 from Anabeana sp, [RefSeq, PubMed]; The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D6RJD6;Q6IAY8", "ec_number_list": "", "go_molecular_function": "GO:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0009060 aerobic respiration", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "O43678-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43920-1", "uniprot_id": "NDUS5_HUMAN", "mass": 12518.0, "length": 106, "protein_name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 5", "gene_name": "NDUFS5", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 5", "refseq_ac": "NP_001171908", "gene_names_uniprotkb": "NDUFS5", "gene_names_refseq": "CI-15k; CI15K; NDUFS5", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 5; CI-15 kDa; Complex I-15 kDa; NADH-ubiquinone oxidoreductase 15 kDa subunit", "protein_names_refseq": "CI-15 kDa; NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase); NADH dehydrogenase [ubiquinone] iron-sulfur protein 5; NADH:ubiquinone oxidoreductase 15 kDa IP subunit; complex I-15 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:4725); (R-HSA-611105); (R-HSA-6799198)", "pathway_count": 3, "publication_count": 108, "publication_id_list": "10070614;10327278;11220739;11695836;12231006;12611891;12837546;1327877;14741580;15250827;16230336;17033964;17936786;186667;19752196;20112406;20406883;20552642;20818383;20858599;21310150;21924235;22869377;23150584;23270816;23553477;23564345;23747254;239860;24191001;25418920;25469497;25564869;25576301;25645385;25678554;25802875;26154972;26375851;26811146;26929215;26992070;27499296;27600516;27626371;27846572;27920218;28063628;28228285;28467828;28832583;28834231;29242379;29371260;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30779550;31154438;31611695;31666358;31844290;31848261;31866046;31998317;32138671;32157095;32265295;32320651;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33392160;33537174;33592498;33691108;33879611;33882309;33936100;33968037;34171305;34185709;34509645;34561969;34932366;35318648;35333655;35580925;35614220;35859387;36010968;36284347;37938771;38199007;4288886;9571201;9653160;9878551", "class_list": "", "function": "AIFM1 is a component of the mitochondrial disulfide relay that drives complex I assembly through efficient import of NDUFS5., [RefSeq, PubMed]; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone., [UniProtKB, PubMed]; Novel myocardial markers GADD45G and NDUFS5 identified by RNA-sequencing predicts left ventricular reverse remodeling in advanced non-ischemic heart failure: a retrospective cohort study. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the NADH dehydrogenase (ubiquinone) iron-sulfur protein family. The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 1, 4 and 17. [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": 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:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0009060 aerobic respiration", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "O43920-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60462-1", "uniprot_id": "NRP2_HUMAN", "mass": 104831.0, "length": 931, "protein_name": "Neuropilin-2", "gene_name": "NRP2", "organism": "Human", "refseq_name": "neuropilin-2 isoform 2 precursor", "refseq_ac": "NP_003863", "gene_names_uniprotkb": "NRP2; VEGF165R2", "gene_names_refseq": "NP2; NPN2; NRP2; PRO2714; VEGF165R2", "protein_names_uniprotkb": "Neuropilin-2; Vascular endothelial cell growth factor 165 receptor 2", "protein_names_refseq": "neuropilin-2 isoform 2 precursor; neuropilin-2a(17); neuropilin-2a(22); neuropilin-2b(0); receptor for VEGF165 and semaphorins class3; vascular endothelial cell growth factor 165 receptor 2", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:8828); (R-HSA-194306); (R-HSA-447038)", "pathway_count": 3, "publication_count": 49, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10520995;10748121;10842181;11112349;11237011;11278319;11756651;11948691;11986311;16763549;17989695;22365152;23584533;24190977;25813380;27600516;27726376;29242379;29314611;29393594;29557506;29786170;29789417;30057110;30429286;31844290;32157095;32488085;32938616;32983136;33141586;33592498;33912179;33968037;35051231;35154160;35580925;36215666;37787967;37813099;37878035;37942701;38665916;39138514;9331348;9529250", "class_list": "", "function": "(Microbial infection) Acts as a receptor for human cytomegalovirus pentamer-dependent entry in epithelial and endothelial cells., [UniProtKB, PubMed]; Association of plasma NRP2 and VEGF-C levels with prostate cancer disease severity., [RefSeq, PubMed]; CircPI4KA Overexpression Enhances Carcinogenesis and Glycolysis Metabolism in Papillary Thyroid Carcinoma by Causing the miR-1287-5p-Mediated NRP2 Expression Elevation., [RefSeq, PubMed]; Expression of placental growth factor, neuropilin-1, and neuropilin-2 in primary pterygium tissue., [RefSeq, PubMed]; High affinity receptor for semaphorins 3C, 3F, VEGF-165 and VEGF-145 isoforms of VEGF, and the PLGF-2 isoform of PGF., [UniProtKB]; Neuropilin-2 acts a critical determinant for epithelial-to-mesenchymal transition and aggressive behaviors of human head and neck cancer., [RefSeq, PubMed]; The SEMA3F-NRP1/NRP2 axis is a key factor in the acquisition of invasive traits in in situ breast ductal carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the neuropilin family of receptor proteins. The encoded transmembrane protein binds to SEMA3C protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C} and SEMA3F protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F}, and interacts with vascular endothelial growth factor (VEGF). This protein may play a role in cardiovascular development, axon guidance, and tumorigenesis. This protein has also been determined to act as a co-receptor for SARS-CoV-2 (which causes COVID-19) to infect host cells. [provided by RefSeq, Jul 2021]., [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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 10, "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": 3, "disease_count": 1, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "A0A024R3W6;A0A024R412;E9PF66;O14820;O14821;Q53TQ4;Q53TS3;Q7LBX6;Q7LBX7;Q9H2D4;Q9H2D5;Q9H2E2;Q9H2E3;Q9H2E4;X5D2Q8", "ec_number_list": "", "go_molecular_function": "GO:0008201 heparin binding;GO:0019838 growth factor binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0019955 cytokine binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0002116 semaphorin receptor complex;GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0097490 sympathetic neuron projection extension;GO:0097491 sympathetic neuron projection guidance;GO:0001525 angiogenesis;GO:0007155 cell adhesion;GO:0071526 semaphorin-plexin signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "O60462-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95167-1", "uniprot_id": "NDUA3_HUMAN", "mass": 9279.0, "length": 84, "protein_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3", "gene_name": "NDUFA3", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3", "refseq_ac": "NP_004533", "gene_names_uniprotkb": "NDUFA3", "gene_names_refseq": "B9; CI-B9; NDUFA3", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3; CI-B9; Complex I-B9; NADH-ubiquinone oxidoreductase B9 subunit", "protein_names_refseq": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3; NADH-ubiquinone oxidoreductase B9 subunit; complex I B9 subunit; complex I-B9", "tax_id": 9606, "disease": "", "pathway": " (hsa:4696); (R-HSA-611105); (R-HSA-6799198)", "pathway_count": 3, "publication_count": 112, "publication_id_list": "10327278;11220739;11237011;11695836;12231006;12611891;12837546;1327877;14741580;15250827;16230336;16959974;17033964;17601350;17936786;186667;18977241;19343046;19531498;19752196;20406883;20552642;20858599;21924235;23150584;23270816;23553477;23564345;23747254;239860;24191001;24397554;24715725;25502872;25564869;25576301;25645385;25678554;25892735;26154972;26375851;26811146;26992070;27499296;27600516;27626371;27726376;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632711;29769354;30315122;30833945;31154438;31217245;31222486;31530632;31666358;31844290;31848261;31866046;31998317;32157095;32161166;32320651;32350084;32357974;32488085;32502341;32897882;32983136;33091337;33141586;33298915;33392160;33592498;33879611;33882309;33912179;33968037;34087483;34171305;34357683;34433824;34509645;34932366;35051231;35154160;35251023;35318648;35333655;35561310;35580925;35614220;36010968;36241641;36284347;37938771;38199007;4288886;9571201;9878551", "class_list": "", "function": "Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, 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": 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:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0009060 aerobic respiration;GO:0022904 respiratory electron transport chain", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "O95167-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95803-1", "uniprot_id": "NDST3_HUMAN", "mass": 100902.0, "length": 873, "protein_name": "Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3", "gene_name": "NDST3", "organism": "Human", "refseq_name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3", "refseq_ac": "NP_004775", "gene_names_uniprotkb": "NDST3; HSST3; PRO4998", "gene_names_refseq": "HSST3; NDST3", "protein_names_uniprotkb": "Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3; Glucosaminyl N-deacetylase/N-sulfotransferase 3; N-HSST 3; N-heparan sulfate sulfotransferase 3; NDST-3; hNDST-3", "protein_names_refseq": "GlcNAc N-deacetylase/ N-sulfotransferase 3; N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3; N-heparan sulfate sulfotransferase 3; bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3; glucosaminyl N-deacetylase/N-sulfotransferase 3", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); intellectual disability (Disease Ontology:DOID:1059); azoospermia (Disease Ontology:DOID:14227); germ cell cancer (Disease Ontology:DOID:2994)", "pathway": " (hsa:9348); (R-HSA-2022928)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10318803;10639137;10644753;10677367;10716625;11087757;11169766;11274177;11279150;11390981;12138164;12492399;12975309;15082721;15607426;16343444;16959974;20554947;21700882;25645385;26731438;28132690;28148688;29140583;30471091;31844290;32350084;32357974;32387766;33159882;33912179;34284545;34435379;35051231;35676258;39247955;7601448;9346953;9463333;9535912;9915799;9988767", "class_list": "glycogene", "function": "A genome-wide association study provided suggestive evidence that the NDST3 variation predisposed patients to schizophrenia and bipolar disorder. Publication Status: Online-Only, [RefSeq, PubMed]; Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Has high deacetylase activity but low sulfotransferase activity., [UniProtKB, PubMed]; Genetic Variance in Heparan Sulfation Is Associated With Salt Sensitivity., [RefSeq, PubMed]; Hsa_circ_0001017 inhibits proliferation and metastasis via regulating the let-7g-3p/NDST3 axis in glioma., [RefSeq, PubMed]; NDST3 deacetylates alpha-tubulin and suppresses V-ATPase assembly and lysosomal acidification., [RefSeq, PubMed]; Study does not support that the NDST3 gene plays a major role in schizophrenia, bipolar disorder, and major depressive disorder in the Han Chinese population., [RefSeq, PubMed]; This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. This monomeric bifunctional enzyme catalyzes the N-deacetylation and N-sulfation of N-acetylglucosamine residues in heparan sulfate and heparin, which are the initial chemical modifications required for the biosynthesis of the functional oligosaccharide sequences that define the specific ligand binding activities of heparan sulfate and heparin. [provided by RefSeq, Nov 2008]., [RefSeq]", "predicted_glycosites": 6, "predicted_n_glycosites": 6, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 974, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B4DI67;Q4W5C1;Q4W5D0;Q6UWC5;Q9UP21", "ec_number_list": "3.-.-.-;2.8.2.8;3.5.1.-;2.8.2.-", "go_molecular_function": "GO:0019213 deacetylase activity;GO:0015016 heparan sulfate N-sulfotransferase activity;GO:0102140 heparan sulfate N-deacetylase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0030210 heparin proteoglycan biosynthetic process;GO:0015012 heparan sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "O95803-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P48145-1", "uniprot_id": "NPBW1_HUMAN", "mass": 36103.0, "length": 328, "protein_name": "Neuropeptides B/W receptor type 1", "gene_name": "NPBWR1", "organism": "Human", "refseq_name": "neuropeptides B/W receptor type 1", "refseq_ac": "NP_005276", "gene_names_uniprotkb": "NPBWR1; GPR7", "gene_names_refseq": "GPR7; NPBWR1", "protein_names_uniprotkb": "Neuropeptides B/W receptor type 1; G protein-coupled receptor 7", "protein_names_refseq": "G-protein coupled receptor 7; neuropeptide B/W receptor 1; neuropeptides B/W receptor 1; neuropeptides B/W receptor type 1; opioid-somatostatin-like receptor 7", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:2831); (R-HSA-375276); (R-HSA-418594)", "pathway_count": 3, "publication_count": 114, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11007482;11322507;11385580;11457843;11562423;11683476;11773063;12118011;12120503;12401809;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16923326;16959974;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18577758;22545105;23446738;23563248;23690594;24081945;24906252;2534964;2649896;2748346;27496565;2834384;29351928;3202875;3366244;34087483;35051231;3525564;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "A single nucleotide polymorphism of NPBWR1 changed the receptor function of this molecule at the cellular level, and, at the behavioral level, could influence personality difference in the context of social interaction., [RefSeq, PubMed]; Characterization of a family of endogenous neuropeptide ligands for this G protein-coupled receptor, [RefSeq, PubMed]; Distribution in central nervous system and peripheral tissues with precursor peptides, [RefSeq, PubMed]; Hypermethylation of HIST1H4F, PCDHGB6, NPBWR1, ALX1, and HOXA9 was significantly associated with shorter survival in stage 1 Non-small-cell lung cancer, [RefSeq, PubMed]; Interacts specifically with a number of opioid ligands. Receptor for neuropeptides B and W, which may be involved in neuroendocrine system regulation, food intake and the organization of other signals. Has a higher affinity for neuropeptide B., [UniProtKB]; Neuropeptide B, a neuropeptide modified with bromine is an endogenous ligand for GPR7, [RefSeq, PubMed]; Screening of GPR7 gene mutations among lean and obese subjects revealed a Tyr135Phe allelic variant that is fairly common in the study population. This variant is unlikely to cause a functional derangement of the receptor, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 35, "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": "Q6NTC7", "ec_number_list": "", "go_molecular_function": "GO:0004985 G protein-coupled opioid receptor activity;GO:0004930 G protein-coupled receptor activity;GO:0008188 neuropeptide receptor activity;GO:0042923 neuropeptide binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse;GO:0043005 neuron projection", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0007268 chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "P48145-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P52952-1", "uniprot_id": "NKX25_HUMAN", "mass": 34918.0, "length": 324, "protein_name": "Homeobox protein Nkx-2.5", "gene_name": "NKX2-5", "organism": "Human", "refseq_name": "homeobox protein Nkx-2.5 isoform 2", "refseq_ac": "NP_001159647", "gene_names_uniprotkb": "NKX2-5; CSX; NKX2.5; NKX2E", "gene_names_refseq": "CHNG5; CSX1; CSX; HLHS2; NKX2-5; NKX2.5; NKX2E; NKX4-1; VSD3", "protein_names_uniprotkb": "Homeobox protein Nkx-2.5; Cardiac-specific homeobox; Homeobox protein CSX; Homeobox protein NK-2 homolog E", "protein_names_refseq": "NK2 transcription factor related, locus 5; NKX 2-5; cardiac-specific homeobox 1; homeobox protein CSX; homeobox protein NK-2 homolog E; homeobox protein NKX 2-5; homeobox protein Nkx-2.5 isoform 2; homeobox protein Nkx-2.5; tinman homolog; tinman paralog", "tax_id": 9606, "disease": "atrioventricular block (Disease Ontology:DOID:0050820); congenital nongoitrous hypothyroidism 5 (Disease Ontology:DOID:0070125); aortic valve disease 2 (Disease Ontology:DOID:0080334); atrial heart septal defect 7 (Disease Ontology:DOID:0110112); ventricular septal defect (Disease Ontology:DOID:1657); heart septal defect (Disease Ontology:DOID:1681); congenital heart disease (Disease Ontology:DOID:1682); atrial heart septal defect (Disease Ontology:DOID:1882); pulmonary fibrosis (Disease Ontology:DOID:3770); glucose metabolism disease (Disease Ontology:DOID:4194); double outlet right ventricle (Disease Ontology:DOID:6406); tetralogy of Fallot (Disease Ontology:DOID:6419); hypoplastic left heart syndrome (Disease Ontology:DOID:9955)", "pathway": " (hsa:1482); (R-HSA-2032785); (R-HSA-5578768); (R-HSA-9733709)", "pathway_count": 4, "publication_count": 60, "publication_id_list": "10587520;10880574;11237011;11714651;14559895;14607454;15095414;15146390;15342699;15810002;16332960;16418214;1672777;17660514;17891434;18579750;19324876;19324877;19479054;19934029;19948535;20110263;21110066;21165553;21403123;2144260;22560297;22849347;25187301;25202235;26783251;26817948;26926761;26990595;26992070;28218747;28904123;29437277;29557506;29636455;29899023;30410026;30484775;31844290;32506827;33054971;33141586;33392160;33912179;33968037;35051231;36690178;37097539;37686171;37863045;37926287;8900537;9584153;9651244;9858576", "class_list": "", "function": "Association of maternal hypertension and diabetes with variants of the NKX2-5, LEFTY1 and LEFTY2 genes in children with congenital heart defects: a case-control study from Pakistani Population., [RefSeq, PubMed]; Disease-associated non-coding variants alter NKX2-5 DNA-binding affinity., [RefSeq, PubMed]; Knockout of the Cardiac Transcription Factor NKX2-5 Results in Stem Cell-Derived Cardiac Cells with Typical Purkinje Cell-like Signal Transduction and Extracellular Matrix Formation. Publication Status: Online-Only, [RefSeq, PubMed]; Prioritizing cardiovascular disease-associated variants altering NKX2-5 and TBX5 binding through an integrative computational approach., [RefSeq, PubMed]; The multi-lineage transcription factor ISL1 controls cardiomyocyte cell fate through interaction with NKX2.5., [RefSeq, PubMed]; This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]., [RefSeq]; Transcription factor required for the development of the heart and the spleen (PubMed:22560297). During heart development, acts as a transcriptional activator of NPPA/ANF in cooperation with GATA4 (By similarity). May cooperate with TBX2 to negatively modulate expression of NPPA/ANF in the atrioventricular canal (By similarity). Binds to the core DNA motif of NPPA promoter (PubMed:22849347, PubMed:26926761). Together with PBX1, required for spleen development through a mechanism that involves CDKN2B repression (PubMed:22560297). Positively regulates transcription of genes such as COL3A1 and MMP2, resulting in increased pulmonary endothelial fibrosis in response to hypoxia (PubMed:29899023)., [UniProtKB, PubMed, 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 13, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K3K0;B4DNB6;E9PBU6", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0042803 protein homodimerization activity;GO:0000976 transcription cis-regulatory region 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:0030878 thyroid gland development;GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0003166 bundle of His development;GO:0003285 septum secundum development;GO:0051891 positive regulation of cardioblast differentiation", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "P52952-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P56556-1", "uniprot_id": "NDUA6_HUMAN", "mass": 15137.0, "length": 128, "protein_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6", "gene_name": "NDUFA6", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6", "refseq_ac": "NP_002481", "gene_names_uniprotkb": "NDUFA6; LYRM6; NADHB14", "gene_names_refseq": "B14; CI-B14; LYRM6; MC1DN33; NADHB14; NDUFA6", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6; CI-B14; Complex I-B14; LYR motif-containing protein 6; NADH-ubiquinone oxidoreductase B14 subunit", "protein_names_refseq": "Complex I-B14; LYR motif-containing protein 6; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6; NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 6; NADH-ubiquinone oxidoreductase B14 subunit", "tax_id": 9606, "disease": "nuclear type mitochondrial complex I deficiency 33 (Disease Ontology:DOID:0112097); Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:4700); (R-HSA-611105); (R-HSA-6799198)", "pathway_count": 3, "publication_count": 93, "publication_id_list": "10327278;11220739;11237011;11695836;12231006;12611891;12837546;1327877;14741580;15250827;16230336;17033964;17936786;18477386;186667;19752196;20406883;20552642;20858599;21924235;23150584;23186163;23270816;23481700;23553477;23564345;23747254;239860;24191001;25418920;25564869;25678554;27499296;27600516;27626371;27920218;28228285;28649982;28832583;28834231;29242379;29314611;29331515;29393594;29493099;29557506;29632046;29786170;30245030;30315122;30410026;30779550;31530632;31611695;31666358;31844290;31848261;31866046;31998317;32157095;32320651;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33879611;33882309;33912179;33931730;34087483;34171305;34357683;34405274;34561969;34932366;35333655;35561310;35580925;35614220;36241641;36284347;38199007;4288886;9425316;9571201;9878551", "class_list": "", "function": "A missense variant in NDUFA6 confers schizophrenia risk by affecting YY1 binding and NAGA expression., [RefSeq, PubMed]; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Required for proper complex I assembly (PubMed:30245030). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the LYR family of proteins that contain a highly conserved tripeptide (LYR) motif near the N-terminus. The encoded protein is an accessory subunit of NADH: ubiquinone oxidorerductase (Complex I), which is the largest enzyme of the mitochondrial membrane respiratory chain. Complex I functions in electron transfer from NADH to the respiratory chain. [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": 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": "B2RE54;O43675;Q6FGW0;Q6IBT8;Q6IC39", "ec_number_list": "", "go_molecular_function": "GO:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0009060 aerobic respiration;GO:0022904 respiratory electron transport chain", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "P56556-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13772-1", "uniprot_id": "NCOA4_HUMAN", "mass": 69726.0, "length": 614, "protein_name": "Nuclear receptor coactivator 4", "gene_name": "NCOA4", "organism": "Human", "refseq_name": "nuclear receptor coactivator 4 isoform 1", "refseq_ac": "NP_001138732", "gene_names_uniprotkb": "NCOA4; ARA70; ELE1; RFG", "gene_names_refseq": "ARA70; ELE1; NCOA4; PTC3; RFG", "protein_names_uniprotkb": "Nuclear receptor coactivator 4; 70 kDa AR-activator; 70 kDa androgen receptor coactivator; Androgen receptor coactivator 70 kDa protein; Androgen receptor-associated protein of 70 kDa; Ferritin cargo receptor NCOA4; NCoA-4; Ret-activating protein ELE1", "protein_names_refseq": "70 kDa AR-activator; 70 kDa androgen receptor coactivator; NCoA-4; RET-activating gene ELE1; androgen receptor-associated protein of 70 kDa; ferritin cargo receptor NCOA4; nuclear receptor coactivator 4 isoform 1; ret fused", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); polycystic ovary syndrome (Disease Ontology:DOID:11612); invasive ductal carcinoma (Disease Ontology:DOID:3008); ovarian carcinoma (Disease Ontology:DOID:4001)", "pathway": " (hsa:8031)", "pathway_count": 1, "publication_count": 92, "publication_id_list": "10347167;10517667;15563469;17081983;20068231;22299025;22424782;23481700;24366607;24910095;25327288;25418920;25502872;25576301;25892735;26375851;26436293;26992070;27090790;27846572;27920218;28218747;28228285;28467828;28514659;28832583;28834231;28904123;29237092;29242379;29314611;29317506;29331515;29437277;29485866;29493099;29557506;29632711;29786170;30315122;30379171;30410026;30429286;30524438;30573663;30779550;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33043033;33141586;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34211107;34357683;34433824;34509645;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36284347;37938771;38159858;39166386;8187085;8290261;8643607;9892017", "class_list": "", "function": "Cargo receptor for the autophagic turnover of the iron-binding ferritin complex, playing a central role in iron homeostasis (PubMed:25327288, PubMed:26436293). Acts as an adapter for delivery of ferritin to lysosomes and autophagic degradation of ferritin, a process named ferritinophagy (PubMed:25327288, PubMed:26436293). Targets the iron-binding ferritin complex to autolysosomes following starvation or iron depletion (PubMed:25327288). Ensures efficient erythropoiesis, possibly by regulating hemin-induced erythroid differentiation (PubMed:26436293). In some studies, has been shown to enhance the androgen receptor AR transcriptional activity as well as acting as ligand-independent coactivator of the peroxisome proliferator-activated receptor (PPAR) gamma (PubMed:10347167, PubMed:8643607). Another study shows only weak behavior as a coactivator for the androgen receptor and no alteration of the ligand responsiveness of the AR (PubMed:10517667). Binds to DNA replication origins, binding is not restricted to sites of active transcription and may likely be independent from the nuclear receptor transcriptional coactivator function (PubMed:24910095). May inhibit activation of DNA replication origins, possibly by obstructing DNA unwinding via interaction with the MCM2-7 complex (PubMed:24910095)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Lactylation of nuclear receptor coactivator 4 promotes ferritinophagy and glycolysis of neuronal cells after cerebral ischemic injury., [RefSeq, PubMed]; NCOA4 requires a [3Fe-4S] to sense and maintain the iron homeostasis., [RefSeq, PubMed]; This gene encodes an androgen receptor coactivator. The encoded protein interacts with the androgen receptor in a ligand-dependent manner to enhance its transcriptional activity. Chromosomal translocations between this gene and the ret tyrosine kinase gene, also located on chromosome 10, have been associated with papillary thyroid carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes are present on chromosomes 4, 5, 10, and 14. [provided by RefSeq, Feb 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": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K8W5;B4E260;E9PAV7;J3KQN8;Q14239", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031410 cytoplasmic vesicle;GO:0005776 autophagosome;GO:0005694 chromosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0071394 cellular response to testosterone stimulus;GO:0006879 intracellular iron ion homeostasis;GO:0008584 male gonad development;GO:0009725 response to hormone", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q13772-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16517-1", "uniprot_id": "NNAT_HUMAN", "mass": 9237.0, "length": 81, "protein_name": "Neuronatin", "gene_name": "NNAT", "organism": "Human", "refseq_name": "neuronatin isoform gamma", "refseq_ac": "NP_001309731", "gene_names_uniprotkb": "NNAT", "gene_names_refseq": "NNAT; Peg5", "protein_names_uniprotkb": "Neuronatin", "protein_names_refseq": "neuronatin isoform gamma", "tax_id": 9606, "disease": "", "pathway": " (hsa:4826)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;34092612;35051231;35655118;36473542;37400769;37987927;8660979;8813377;9356927", "class_list": "", "function": "DNA methylation-mediated silencing of Neuronatin promotes hepatocellular carcinoma proliferation through the PI3K-Akt signaling pathway., [RefSeq, PubMed]; In silico identification of the rare-coding pathogenic mutations and structural modeling of human NNAT gene associated with anorexia nervosa., [RefSeq, PubMed]; May participate in the maintenance of segment identity in the hindbrain and pituitary development, and maturation or maintenance of the overall structure of the nervous system. May function as a regulatory subunit of ion channels., [UniProtKB]; NNAT is a novel mediator of oxidative stress that suppresses ER + breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The predictive potential of Neuronatin for neoadjuvant chemotherapy of breast cancer., [RefSeq, PubMed]; The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during brain development. The encoded protein may also play a role in forming and maintaining the structure of the nervous system. This gene is found within an intron of another gene, bladder cancer associated protein, but on the opposite strand. This gene is imprinted and is expressed only from the paternal allele. [provided by RefSeq, Apr 2016]., [RefSeq]; Understanding the impact of structural modifications at the NNAT gene's post-translational acetylation site: in silico approach for predicting its drug-interaction role in anorexia nervosa. 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": "B2R558;E1P5V6;Q16596;Q5U0N3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0032024 positive regulation of insulin secretion;GO:0007420 brain development;GO:0009249 protein lipoylation", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q16517-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3KNT7-1", "uniprot_id": "NSN5B_HUMAN", "mass": 17679.0, "length": 163, "protein_name": "Putative NOL1/NOP2/Sun domain family member 5B", "gene_name": "NSUN5P1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "NSUN5P1; NSUN5B; WBSCR20B", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative NOL1/NOP2/Sun domain family member 5B; 2.1.1.-; Williams-Beuren syndrome chromosomal region 20B protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "Williams-Beuren syndrome (Disease Ontology:DOID:1928)", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "12073013;24715725;26154972;27846572;31844290;32387766", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KX24;Q52LC6;Q8N728", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008757 S-adenosylmethionine-dependent methyltransferase activity;GO:0008173 RNA methyltransferase activity", "go_cellular_component": "", "go_biological_process": "GO:0001510 RNA methylation", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q3KNT7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q4KMZ8-1", "uniprot_id": "NKAI1_HUMAN", "mass": 23552.0, "length": 207, "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1", "gene_name": "NKAIN1", "organism": "Human", "refseq_name": "sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1 precursor", "refseq_ac": "NP_078798", "gene_names_uniprotkb": "NKAIN1; FAM77C", "gene_names_refseq": "FAM77C; NKAIN1", "protein_names_uniprotkb": "Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1; Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 1; Protein FAM77C", "protein_names_refseq": "Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 1; Na+/K+ transporting ATPase interacting 1; family with sequence similarity 77, member C; sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1 precursor; sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79570)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;23455491;38651944", "class_list": "", "function": "NKAIN1 is a member of a family of mammalian proteins with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]., [RefSeq]; NKAIN1, as an oncogene, promotes the proliferation and metastasis of breast cancer, affecting its prognosis., [RefSeq, PubMed]; NKAIN1-SERINC2 gene expression is associated with alcohol dependence in subjects of European descent., [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": 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": "A2VDJ3;B7Z5F5;B7Z5W9;Q9H9M7", "ec_number_list": "", "go_molecular_function": "GO:0051117 ATPase binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002028 regulation of sodium ion transport", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q4KMZ8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q63ZY6-1", "uniprot_id": "NSN5C_HUMAN", "mass": 34347.0, "length": 315, "protein_name": "Putative methyltransferase NSUN5C", "gene_name": "NSUN5P2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "NSUN5P2; NSUN5C; WBSCR20B; WBSCR20C", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative methyltransferase NSUN5C; 2.1.1.-; NOL1/NOP2/Sun domain family member 5C; Williams-Beuren syndrome chromosomal region 20C protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "Williams-Beuren syndrome (Disease Ontology:DOID:1928)", "pathway": "", "pathway_count": 0, "publication_count": 14, "publication_id_list": "11978965;12073013;22009320;28228285;28832583;29242379;29393594;29508533;31844290;32357974;32387766;33298915;35051231;36284347", "class_list": "", "function": "May have S-adenosyl-L-methionine-dependent methyl-transferase activity., [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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K7U2;Q3KQU7;Q658S2;Q6NZ66;Q6PHS1;Q8N727;Q9HAH4", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008757 S-adenosylmethionine-dependent methyltransferase activity;GO:0008173 RNA methyltransferase activity", "go_cellular_component": "", "go_biological_process": "GO:0001510 RNA methylation", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q63ZY6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6X4W1-1", "uniprot_id": "NSMF_HUMAN", "mass": 60143.0, "length": 530, "protein_name": "NMDA receptor synaptonuclear signaling and neuronal migration factor", "gene_name": "NSMF", "organism": "Human", "refseq_name": "NMDA receptor synaptonuclear signaling and neuronal migration factor isoform a", "refseq_ac": "NP_001124441", "gene_names_uniprotkb": "NSMF; NELF", "gene_names_refseq": "HH9; NELF; NSMF", "protein_names_uniprotkb": "NMDA receptor synaptonuclear signaling and neuronal migration factor; Nasal embryonic LHRH factor; Nasal embryonic luteinizing hormone-releasing hormone factor", "protein_names_refseq": "NMDA receptor synaptonuclear signaling and neuronal migration factor isoform a; nasal embryonic LHRH factor; nasal embryonic luteinizing hormone-releasing hormone factor", "tax_id": 9606, "disease": "hypogonadotropic hypogonadism 7 with or without anosmia (Disease Ontology:DOID:0090078); hypogonadotropic hypogonadism 9 with or without anosmia (Disease Ontology:DOID:0090085)", "pathway": " (hsa:26012)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;15362570;20025934;21700882;23643382;24715725;25576301;29050862;30379171;30429286;33963872;35580925;38182897;39894887", "class_list": "", "function": "Couples NMDA-sensitive glutamate receptor signaling to the nucleus and triggers long-lasting changes in the cytoarchitecture of dendrites and spine synapse processes. Part of the cAMP response element-binding protein (CREB) shut-off signaling pathway. Stimulates outgrowth of olfactory axons and migration of gonadotropin-releasing hormone (GnRH) and luteinizing-hormone-releasing hormone (LHRH) neuronal cells., [UniProtKB, PubMed]; NELF and PAF1C complexes are core transcriptional machineries controlling colon cancer stemness., [RefSeq, PubMed]; NSMF promotes the replication stress-induced DNA damage response for genome maintenance., [RefSeq, PubMed]; The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hypogonadotropic hypogonadism (IHH). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]., [RefSeq]; These findings suggest a role for NELF in the regulation of the JAK/STAT signaling pathway, which have important functions in GnRH neurons., [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": 2, "reported_glycation": 0, "reported_snv": 11, "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": "Q2TB96;Q6X4V7;Q6X4V8;Q6X4V9;Q8N2M2;Q96SY1;Q9NPM4;Q9NPP3;Q9NPS3", "ec_number_list": "", "go_molecular_function": "GO:0048306 calcium-dependent protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0048814 regulation of dendrite morphogenesis;GO:0043523 regulation of neuron apoptotic process;GO:0048168 regulation of neuronal synaptic plasticity;GO:0071230 cellular response to amino acid stimulus;GO:0071257 cellular response to electrical stimulus", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q6X4W1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZS30-2", "uniprot_id": "NBEL1_HUMAN", "mass": 307237.0, "length": 2694, "protein_name": "Neurobeachin-like protein 1", "gene_name": "NBEAL1", "organism": "Human", "refseq_name": "neurobeachin-like protein 1 isoform 1", "refseq_ac": "NP_001107604", "gene_names_uniprotkb": "NBEAL1; ALS2CR16; ALS2CR17", "gene_names_refseq": "A530083I02Rik; ALS2CR16; ALS2CR17; NBEAL1", "protein_names_uniprotkb": "Neurobeachin-like protein 1; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 16 protein; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 protein", "protein_names_refseq": "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16; amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 16 protein; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 protein; beach; neurobeachin-like protein 1 isoform 1; neurobeachin-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:65065)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "10.1101/2023.09.13.557529;11586298;15193433;23481700;24715725;25576301;25645385;25880248;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29769354;29786170;30192525;30315122;30379171;30410026;30429286;30779550;30784271;31154438;31217245;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32938616;32983136;33141586;33298915;33592498;33633747;33912179;33968037;33981976;34171305;34357683;34405274;34509645;35051231;35289036;35580925;36010968;36241641;36284347;38253038", "class_list": "", "function": "Isolation of human neurobeachin-like 1 (NBEAL1); highly expressed in the brain, kidney, prostate, and testis, and in biopsies of different grade glioma [NBEAL1], [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 48, "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": "A6NHD5;Q6Y876;Q6ZP36;Q6ZQY5;Q8N8R4;Q96Q30;Q96Q31", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q6ZS30-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q71RS6-1", "uniprot_id": "NCKX5_HUMAN", "mass": 54888.0, "length": 500, "protein_name": "Sodium/potassium/calcium exchanger 5", "gene_name": "SLC24A5", "organism": "Human", "refseq_name": "sodium/potassium/calcium exchanger 5 precursor", "refseq_ac": "NP_995322", "gene_names_uniprotkb": "SLC24A5; JSX; NCKX5", "gene_names_refseq": "JSX; NCKX5; OCA6; SHEP4; SLC24A5", "protein_names_uniprotkb": "Sodium/potassium/calcium exchanger 5; Na(+)/K(+)/Ca(2+)-exchange protein 5; Solute carrier family 24 member 5", "protein_names_refseq": "Na(+)/K(+)/Ca(2+)-exchange protein 5; Na/Ca-K exchanger 5; ion transporter JSX; oculocutaneous albinism 6 (autosomal recessive); sodium/potassium/calcium exchanger 5 precursor; sodium/potassium/calcium exchanger 5; solute carrier family 24 (sodium/potassium/calcium exchanger), member 5", "tax_id": 9606, "disease": "ocular albinism 1 (Disease Ontology:DOID:0050633); oculocutaneous albinism type VI (Disease Ontology:DOID:0080614)", "pathway": " (hsa:283652); (R-HSA-425561); (R-HSA-5619036)", "pathway_count": 3, "publication_count": 27, "publication_id_list": "10662833;11237011;11294880;12379639;14625281;15060069;16357253;16847698;17081065;17999355;18166528;23010199;23364476;24987109;25645385;27600516;29557506;30530665;31486119;31844290;32157095;32274888;34171305;35051231;37294081;39394480;9856482", "class_list": "", "function": "Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+) (PubMed:18166528). Involved in pigmentation, possibly by participating in ion transport in melanosomes (PubMed:16357253, PubMed:18166528). Predominant sodium-calcium exchanger in melanocytes (PubMed:16357253, PubMed:18166528)., [UniProtKB, PubMed, PubMed]; Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6., [RefSeq, PubMed]; Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population. Publication Status: Online-Only, [RefSeq, PubMed]; The derived causal allele in SLC24A5, p.Ala111Thr, significantly lightens basal skin pigmentation in the KhoeSan and explains 8 to 15% of phenotypic variance in these populations. The frequency of this allele (33 to 53%) is far greater than expected from gene flow. We show that the allele was introduced into the KhoeSan only 2,000 y ago via a back-to-Africa migration and then experienced a selective sweep., [RefSeq, PubMed]; The p.L374F allele in SLC45A2 is a more specific ancestry informative marker than the p.A111T allele in SLC24A5, as it clearly distinguishes Sri Lankans from Europeans., [RefSeq, PubMed]; The variant allele is associated with a substantial reduction in regional heterozygosity, and correlates with lighter skin pigmentation in admixed populations, suggesting a key role for the SLC24A5 gene in human pigmentation, [RefSeq, PubMed]; This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]., [RefSeq]; This study identifies two novel SLC24A5 frame-shift variants in two unrelated Chinese oculocutaneous albinism type 6 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": 5, "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": "A5X8Z8;A5X8Z9;Q14CT4;Q6DKH3", "ec_number_list": "", "go_molecular_function": "GO:0005262 calcium channel activity;GO:0015293 symporter activity;GO:0008273 calcium, potassium:sodium antiporter activity;GO:0005432 calcium:sodium antiporter activity", "go_cellular_component": "GO:0032588 trans-Golgi network membrane;GO:0042470 melanosome;GO:0005802 trans-Golgi network;GO:0016020 membrane", "go_biological_process": "GO:0006874 intracellular calcium ion homeostasis;GO:0034220 monoatomic ion transmembrane transport;GO:0070588 calcium ion transmembrane transport;GO:0070509 calcium ion import", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q71RS6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N2Q7-3", "uniprot_id": "NLGN1_HUMAN", "mass": 96368.0, "length": 863, "protein_name": "Neuroligin-1", "gene_name": "NLGN1", "organism": "Human", "refseq_name": "neuroligin-1 isoform 3 precursor", "refseq_ac": "NP_055747", "gene_names_uniprotkb": "NLGN1; KIAA1070", "gene_names_refseq": "NL1; NLG1; NLGN1", "protein_names_uniprotkb": "Neuroligin-1", "protein_names_refseq": "neuroligin-1 isoform 3 precursor", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); autistic disorder (Disease Ontology:DOID:12849); status epilepticus (Disease Ontology:DOID:1824); autism, susceptibility to, 20 (MONDO:MONDO:0030004)", "pathway": " (hsa:22871); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11604393;15540461;16242404;16624946;16846852;16882988;17897391;18755801;18812509;18829961;19926856;20034102;20064387;20064388;20519524;21282647;23584533;25378172;28841651;28972980;29557506;30460678;32488085;33522967;34340665;35051231;35562616;36056393;37544204;7695896;7736595;8576240;9069287;9278515;9808458;9927700", "class_list": "", "function": "Association between Neuroligin-1 polymorphism and plasma glutamine levels in individuals with autism spectrum disorder., [RefSeq, PubMed]; Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and probably mediates its effects by recruiting and clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Required to maintain wakefulness quality and normal synchrony of cerebral cortex activity during wakefulness and sleep (By similarity). The protein is involved in nervous system development., [UniProtKB, UniProtKB, PubMed]; Neuroligin-1 in brain and CSF of neurodegenerative disorders: investigation for synaptic biomarkers. Publication Status: Online-Only, [RefSeq, PubMed]; Prenatal glucocorticoid exposure selectively impairs neuroligin 1-dependent neurogenesis by suppressing astrocytic FGF2-neuronal FGFR1 axis. Publication Status: Online-Only, [RefSeq, PubMed]; The neuronal protein Neuroligin 1 promotes colorectal cancer progression by modulating the APC/beta-catenin pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulated NLGN1 predicts poor survival in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 3, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "D2X2H5;Q9UPT2", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0001540 amyloid-beta binding;GO:0050839 cell adhesion molecule binding;GO:0030165 PDZ domain binding;GO:0097110 scaffold protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0072553 terminal button organization;GO:0099054 presynapse assembly;GO:0016080 synaptic vesicle targeting;GO:0048789 cytoskeletal matrix organization at active zone;GO:0097091 synaptic vesicle clustering", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q8N2Q7-3", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969F2-1", "uniprot_id": "NKD2_HUMAN", "mass": 50055.0, "length": 451, "protein_name": "Protein naked cuticle homolog 2", "gene_name": "NKD2", "organism": "Human", "refseq_name": "protein naked cuticle homolog 2 isoform 2", "refseq_ac": "NP_001258011", "gene_names_uniprotkb": "NKD2", "gene_names_refseq": "NKD2; Naked2", "protein_names_uniprotkb": "Protein naked cuticle homolog 2; Naked-2; hNkd2", "protein_names_refseq": "Dvl-binding protein NKD2; NKD2, WNT signaling pathway inhibitor; protein naked cuticle homolog 2 isoform 2; protein naked cuticle homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:85409); (R-HSA-9943962)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10921920;11274398;11356022;11507205;11604995;11744694;15064403;15960975;16095617;16752383;16878130;16949368;17027977;17045239;17143291;17350655;17553928;17603073;18378692;18757723;20453063;21899694;23285124;23408615;28533432;29242379;29678899;30524438;30941853;32350084;32387766;32897882;32938616;33045317;33091337;34078123;34433025;34509645;35051231;36820951;6261960", "class_list": "", "function": "Cell autonomous antagonist of the canonical Wnt signaling pathway. May activate a second Wnt signaling pathway that controls planar cell polarity (By similarity). Required for processing of TGFA and for targeting of TGFA to the basolateral membrane of polarized epithelial cells., [UniProtKB, PubMed, PubMed]; LINC00922 regulates epithelial-mesenchymal transition, invasive and migratory capacities in breast cancer through promoting NKD2 methylation., [RefSeq, PubMed]; NKD2 Trigger NF-kappaB Signaling Pathway and Facilitates Thyroid Cancer Cell Proliferation., [RefSeq, PubMed]; NKD2 mediates stimulation-dependent ORAI1 trafficking to augment Ca(2+) entry in T cells., [RefSeq, PubMed]; NKD2 phosphorylation by PKA promotes cell-surface delivery of TGFalpha and increased EGFR activation., [RefSeq, PubMed]; NKD2 represents a candidate target of 5p amplifications in soft tissue sarcomas and might play a crucial role during the progression of this disease., [RefSeq, PubMed]; The experiments in vitro suggested that knockdown of ZFAS1 repressed bladder cancer cell proliferation via up-regulating KLF2 and NKD2 expression, and inhibited cell migration and invasion via down-regulating ZEB1 and ZEB2 expression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of a family of proteins that function as negative regulators of Wnt receptor signaling through interaction with Dishevelled family members. The encoded protein participates in the delivery of transforming growth factor alpha-containing vesicles to the cell membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "Q96EK8;Q9BSN0", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0019838 growth factor binding;GO:0051117 ATPase binding;GO:0031625 ubiquitin protein ligase binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0031410 cytoplasmic vesicle;GO:0071944 cell periphery", "go_biological_process": "GO:0048210 Golgi vesicle fusion to target membrane;GO:0072659 protein localization to plasma membrane;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0010954 positive regulation of protein processing;GO:1903078 positive regulation of protein localization to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q969F2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969G9-1", "uniprot_id": "NKD1_HUMAN", "mass": 52285.0, "length": 470, "protein_name": "Protein naked cuticle homolog 1", "gene_name": "NKD1", "organism": "Human", "refseq_name": "protein naked cuticle homolog 1", "refseq_ac": "NP_149110", "gene_names_uniprotkb": "NKD1; NKD; PP7246", "gene_names_refseq": "NKD1; Naked1", "protein_names_uniprotkb": "Protein naked cuticle homolog 1; Naked-1; hNkd1; hNkd", "protein_names_refseq": "Dvl-binding protein; NKD1, WNT signaling pathway inhibitor; naked cuticle homolog 1; naked cuticle-1; naked-1; protein naked cuticle homolog 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:85407)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11356022;11604995;11752446;15498874;15687260;16567647;23481700;25645385;27600516;29557506;30429286;31154438;31472047;31844290;31848261;32157095;32387766;34509645;35051231;36284347;36445120;36969985;37202194", "class_list": "", "function": "Cell autonomous antagonist of the canonical Wnt signaling pathway. May activate a second Wnt signaling pathway that controls planar cell polarity., [UniProtKB, PubMed, PubMed, PubMed]; Clinical Significance of NKD Inhibitor of WNT Signaling Pathway 1 (NKD1) in Glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; In the mouse, Nkd is a Dishevelled (see DVL1; MIM 601365)-binding protein that functions as a negative regulator of the Wnt (see WNT1; MIM 164820)-beta-catenin (see MIM 116806)-Tcf (see MIM 602272) signaling pathway.[supplied by OMIM, Jun 2003]., [RefSeq]; Let-7b-5p inhibits colon cancer progression by prohibiting APC ubiquitination degradation and the Wnt pathway by targeting NKD1. Erratum:[Cancer Sci. 2023 Aug;114(8):3466-3469. doi: 10.1111/cas.15904. PMID: 37401168], [RefSeq, PubMed]; MiR-532 is highly expressed in colorectal cancer cells and directly inhibits NKD1 expression Publication Status: Online-Only, [RefSeq, PubMed]; [NKD1 promotes glucose uptake in colon cancer cells by activating YWHAE transcription]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B2RC39;Q8WZ08", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0030165 PDZ domain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0000159 protein phosphatase type 2A complex", "go_biological_process": "GO:0007525 somatic muscle development;GO:0090249 regulation of cell migration involved in somitogenic axis elongation;GO:0043410 positive regulation of MAPK cascade;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:2000096 positive regulation of Wnt signaling pathway, planar cell polarity pathway", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q969G9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96NT1-1", "uniprot_id": "NP1L5_HUMAN", "mass": 19593.0, "length": 182, "protein_name": "Nucleosome assembly protein 1-like 5", "gene_name": "NAP1L5", "organism": "Human", "refseq_name": "nucleosome assembly protein 1-like 5", "refseq_ac": "NP_715638", "gene_names_uniprotkb": "NAP1L5; DRLM", "gene_names_refseq": "DRLM; NAP1L5", "protein_names_uniprotkb": "Nucleosome assembly protein 1-like 5; Down-regulated in liver malignancy; Histone chaperone NAP1L5", "protein_names_refseq": "down-regulated in liver malignancy; histone chaperone NAP1L5; nucleosome assembly protein 1-like 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:266812)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "12383514;20622171;28832583;30429286;37717692", "class_list": "", "function": "NAP1L5 facilitates pancreatic ductal adenocarcinoma progression via TRIM29-mediated ubiquitination of PHLPP1., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a protein that shares sequence similarity to nucleosome assembly factors, but may be localized to the cytoplasm rather than the nucleus. Expression of this gene is downregulated in hepatocellular carcinomas. This gene is located within a differentially methylated region (DMR) and is imprinted and paternally expressed. There is a related pseudogene on chromosome 4. [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": 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:0005634 nucleus", "go_biological_process": "GO:0006334 nucleosome assembly", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q96NT1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PH1-1", "uniprot_id": "NOX5_HUMAN", "mass": 86439.0, "length": 765, "protein_name": "NADPH oxidase 5", "gene_name": "NOX5", "organism": "Human", "refseq_name": "NADPH oxidase 5 isoform 2", "refseq_ac": "NP_001171708", "gene_names_uniprotkb": "NOX5", "gene_names_refseq": "NOX5", "protein_names_uniprotkb": "NADPH oxidase 5; 1.-.-.-; 1.6.3.-", "protein_names_refseq": "NADPH oxidase 5 isoform 2; NADPH oxidase, EF-hand calcium binding domain 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:134826889); (hsa:79400); (R-HSA-3299685)", "pathway_count": 3, "publication_count": 110, "publication_id_list": "10029572;10514471;10521424;10656833;10833429;10919671;10982;11018045;11139407;11237011;11376945;11483596;11507097;11518528;11886899;11912930;12121572;12186557;12446202;12686516;12829378;14982937;15044467;15046979;15064408;15280035;15317809;15596429;15927447;15994299;16179589;16339585;16401067;16615992;1668270;16750198;16880213;17275676;17519234;17587483;1763037;17707404;18358825;18703498;18936159;19219623;19542232;1999334;20070187;20367259;20690882;2071038;21215271;21297032;21319793;21385867;21393238;21642394;21967640;22387196;22427510;22493009;22869735;22910329;23152058;23164639;23454490;23455484;24505490;24715725;25047527;29493099;30429286;31154438;31530632;31785178;31844290;31848261;32387766;32792487;32938616;33968037;3457020;34784249;3532102;35580925;3619451;36332749;36653838;36905456;3693360;38734761;39219290;5389100;60;6286671;6961438;7021796;7172448;7487923;807573;8379940;8428933;8452552;8663465;9295278;9369223;9639555;9726962;9923614", "class_list": "", "function": "Ca[2+] -binding-region-dependent cell surface localization of NADPH oxidase Nox5., [RefSeq, PubMed]; Calcium-dependent NADPH oxidase that catalyzes the generation of superoxide from molecular oxygen utilizing NADPH as an electron donor., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Lacks calcium-dependent NADPH oxidase activity., [UniProtKB, PubMed]; NOX2 and NOX5 are increased in cardiac microvascular endothelium of deceased COVID-19 patients., [RefSeq, PubMed]; NOX5 is likely to be involved in Ca(2+)-activated, redox-dependent processes of spermatozoa and lymphocytes such as sperm-oocyte fusion, cell proliferation, and cytokine secretion., [RefSeq, PubMed]; Reactive oxygen species producing activity of NOX5 in sperm and NADPH-oxidase of white blood cells; role of protein kinase C in NOX5 activation, [RefSeq, PubMed]; Role of NOX1 and NOX5 in protein kinase C/reactive oxygen species-mediated MMP-9 activation and invasion in MCF-7 breast cancer cells., [RefSeq, PubMed]; Structural basis of human NOX5 activation. Publication Status: Online-Only, [RefSeq, PubMed]; Structure, regulation, and physiological functions of NADPH oxidase 5 (NOX5). Review article, [RefSeq, PubMed]; This isoform lacks calcium-binding domains and was showed to present a NADPH oxidase activity in a calcium-independent manner (PubMed:17275676, PubMed:36653838). May be involved in endothelial generation of reactive oxygen species (ROS), proliferation and angiogenesis and contribute to endothelial response to thrombin (PubMed:17275676). However another study showed an absence of oxidase activity (PubMed:22427510). Subject to rapid degradation (PubMed:36653838)., [UniProtKB, PubMed, PubMed, PubMed]; We propose that the GTP-bound active form of Rac is required for sustained enzyme activity and that membrane-localized GAPs have a role in the deactivation of NADPH oxidase, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 21, "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": "B2RBJ4;Q08AN2;Q08AN3;Q8TEQ1;Q8TER4;Q96PH2;Q96PJ8;Q96PJ9;Q9H6E0;Q9HAM8", "ec_number_list": "1.6.3.-;1.-.-.-;1.6.3.1;1.11.1.-", "go_molecular_function": "GO:0050660 flavin adenine dinucleotide binding;GO:0005509 calcium ion binding;GO:0020037 heme binding;GO:0015252 proton channel activity;GO:0050661 NADP binding", "go_cellular_component": "GO:0043020 NADPH oxidase complex;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0043012 regulation of fusion of sperm to egg plasma membrane;GO:0001525 angiogenesis;GO:0006952 defense response;GO:0006915 apoptotic process;GO:0001819 positive regulation of cytokine production", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q96PH1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99748-1", "uniprot_id": "NRTN_HUMAN", "mass": 22405.0, "length": 197, "protein_name": "Neurturin", "gene_name": "NRTN", "organism": "Human", "refseq_name": "neurturin preproprotein", "refseq_ac": "NP_004549", "gene_names_uniprotkb": "NRTN", "gene_names_refseq": "NRTN; NTN", "protein_names_uniprotkb": "Neurturin", "protein_names_refseq": "neurturin preproprotein; prepro-neurturin", "tax_id": 9606, "disease": "Hirschsprung's disease (Disease Ontology:DOID:10487)", "pathway": " (hsa:4902); (R-HSA-419037); (R-HSA-5673001); (R-HSA-8853659)", "pathway_count": 4, "publication_count": 104, "publication_id_list": "10448070;10508167;10829012;10869344;10995764;11000521;11002419;11027663;11090077;11136978;11237712;11313946;11360177;11390647;11470823;11491658;11546808;11702783;11886862;12032311;12094235;12121613;12242309;12765789;12771945;14506247;14707138;14766744;15044950;15242795;15286081;15356145;1545823;15546878;15569713;16267048;16627759;16684964;1716764;17998941;18059411;18775330;1898771;19279408;19920141;20478380;21102635;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23103841;23303910;23443682;23575685;24897931;24937142;25219551;25781681;26085527;2809592;28778966;29414779;31135801;31392261;31535977;31866372;33141586;33981976;35251023;37211171;6148751;7665556;7809086;7935463;7972015;8052307;8262246;8394845;8493579;8628282;8631863;8637703;8662982;8663426;8665852;8674117;8710374;8939933;8945474;9047384;9192684;9299438;9398268;9407096;9491986;9604935;9700200;9764818;9883723;9927426", "class_list": "", "function": "Biophysical results show that the relative concentration of GFRa2 on cell surfaces can affect the functional affinity of NRTN through avidity effects., [RefSeq, PubMed]; Growth factor that supports the survival of sympathetic neurons in culture (PubMed:8945474). May regulate the development and maintenance of the CNS (PubMed:8945474). Involved in the development of the neural crest (PubMed:15242795). Might control the size of non-neuronal cell population such as haemopoietic cells (PubMed:8945474). Acts by binding to its coreceptor, GFRA2, leading to autophosphorylation and activation of the RET receptor (PubMed:10829012, PubMed:29414779, PubMed:31535977). Heparan sulfate-binding is required for signaling (PubMed:29414779)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Refolding and purification of cGMP-grade recombinant human neurturin from Escherichia coli inclusion bodies., [RefSeq, PubMed]; TANGO1 interacts with NRTN to promote hepatocellular carcinoma progression by regulating the PI3K/AKT/mTOR signaling pathway., [RefSeq, PubMed]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. A neurturin mutation has been described in a family with Hirschsprung Disease. [provided by RefSeq, Aug 2016]., [RefSeq]; We have reconstituted the complete extracellular region of the RET signaling complex together with Neurturin (NRTN) and GFRalpha2 and determined its structure at 5.7-A resolution by cryo-EM. The proteins form an assembly through RET-GFRalpha2 and RET-NRTN interfaces. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RPE8", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:1904399 heparan sulfate binding;GO:0030971 receptor tyrosine kinase binding;GO:0008083 growth factor activity;GO:0030116 glial cell-derived neurotrophic factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0035860 glial cell-derived neurotrophic factor receptor signaling pathway;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007399 nervous system development;GO:0031175 neuron projection development;GO:0000165 MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q99748-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZQ6-1", "uniprot_id": "NPFF1_HUMAN", "mass": 47819.0, "length": 430, "protein_name": "Neuropeptide FF receptor 1", "gene_name": "NPFFR1", "organism": "Human", "refseq_name": "neuropeptide FF receptor 1", "refseq_ac": "NP_071429", "gene_names_uniprotkb": "NPFFR1; GPR147; NPFF1", "gene_names_refseq": "GPR147; NPFF1R1; NPFF1; NPFFR1; OT7T022", "protein_names_uniprotkb": "Neuropeptide FF receptor 1; G protein-coupled receptor 147; RFamide-related peptide receptor OT7T022", "protein_names_refseq": "G-protein coupled receptor 147; RFamide-related peptide receptor OT7T022; neuropeptide FF 1; neuropeptide FF receptor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:64106); (R-HSA-389397); (R-HSA-416476)", "pathway_count": 3, "publication_count": 42, "publication_id_list": "10191087;10364220;10567430;10583376;10727532;10861009;11015615;11024015;11025660;11030716;11574155;11742120;11753430;12120503;12714592;15951850;16182515;16268778;16339447;16385451;16429482;16754659;16923326;18434541;18515384;18577758;18936096;1905813;20027225;24715725;25180599;26211894;2841328;3086311;31844290;35051231;7937899;8664309;9224703;9305846;9491897;9770463", "class_list": "", "function": "Effects of systematic N-terminus deletions and benzoylations of endogenous RF-amide peptides on NPFF1R, NPFF2R, GPR10, GPR54 and GPR103., [RefSeq, PubMed]; GnIH homologs in the human hypothalamus and were identified and human GnIH receptor (GPR147) mRNA expression in the hypothalamus as well as in the pituitary, was characterized. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RFRP-3/GPR147 may play secondary, modulatory roles on the regulation of pubertal development; a restraining modulatory effect of the NPVF p.I71_K72 variant on the activation of the gonadotrophic axis cannot be ruled out, [RefSeq, PubMed]; Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety of naturally occurring or synthetic FMRF-amide like ligands. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A2RRF0;Q8NGR0;Q96RN3", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008188 neuropeptide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium;GO:0097731 9+0 non-motile cilium", "go_biological_process": "GO:0007218 neuropeptide signaling pathway;GO:0032870 cellular response to hormone stimulus", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9GZQ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NWW6-1", "uniprot_id": "NRK1_HUMAN", "mass": 23193.0, "length": 199, "protein_name": "Nicotinamide riboside kinase 1", "gene_name": "NMRK1", "organism": "Human", "refseq_name": "nicotinamide riboside kinase 1 isoform 2", "refseq_ac": "NP_001121075", "gene_names_uniprotkb": "NMRK1; C9orf95; NRK1", "gene_names_refseq": "C9orf95; NMRK1; NRK1; bA235O14.2", "protein_names_uniprotkb": "Nicotinamide riboside kinase 1; 2.7.1.173; 2.7.1.22; NRK 1; Nicotinic acid riboside kinase 1; NmR-K 1; RNK 1; Ribosylnicotinamide kinase 1; Ribosylnicotinic acid kinase 1", "protein_names_refseq": "NRK 1; RNK 1; nicotinamide riboside kinase 1 isoform 2; nicotinic acid riboside kinase 1; nmR-K 1; ribosylnicotinamide kinase 1; ribosylnicotinic acid kinase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54981); (R-HSA-196807)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "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;17698003;17868694;17914902;18411268;19531469;20388704;2129526;21504897;21699903;21933152;21994945;22701565;22822066;23212377;23230272;24717514;24847004;25531177;25576301;25880248;25892735;26154972;27600516;27725675;27846572;28228285;28832583;29242379;29493099;29557506;29632711;29769354;30779550;31154438;31222486;31844290;31848261;32157095;32502341;32906142;32983136;33087354;33123756;33592498;33717175;33981976;34932366;35051231;35318648;35580925;36241641;4349867;8182091;8289818;8527488;8575745;8809081;9473669", "class_list": "", "function": "Catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to form nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN). The enzyme also phosphorylates the antitumor drugs tiazofurin and 3-deazaguanosine., [UniProtKB, PubMed]; Crystal structure of NRK1 is reported., [RefSeq, PubMed]; Nicotinamide adenine dinucleotide (NAD+) is essential for life in all organisms, both as a coenzyme for oxidoreductases and as a source of ADP-ribosyl groups used in various reactions. Nicotinic acid and nicotinamide, collectively known as niacin, are the vitamin precursors of NAD+. Nicotinamide riboside kinases, such as NRK1, function to synthesize NAD+ through nicotinamide mononucleotide using nicotinamide riboside as the precursor (Bieganowski and Brenner, 2004 [PubMed 15137942]).[supplied by OMIM, Mar 2008]., [RefSeq]; Nicotinamide riboside kinase 1 (NRK1) is necessary and rate-limiting for the use of exogenous nicotinamide riboside and nicotinamide mononucleotide for NAD(+) synthesis. 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": 5, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5W124;Q8N430", "ec_number_list": "2.7.1.173;2.7.1.22", "go_molecular_function": "GO:0050262 ribosylnicotinamide kinase activity;GO:0061769 nicotinate riboside kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0034355 NAD+ biosynthetic process via the salvage pathway;GO:1901847 nicotinate metabolic process;GO:0019674 NAD+ metabolic process;GO:0019363 pyridine nucleotide biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q9NWW6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UK39-1", "uniprot_id": "NOCT_HUMAN", "mass": 48196.0, "length": 431, "protein_name": "Nocturnin", "gene_name": "NOCT", "organism": "Human", "refseq_name": "nocturnin", "refseq_ac": "NP_036250", "gene_names_uniprotkb": "NOCT; CCR4; CCRN4L; NOC", "gene_names_refseq": "CCR4L; CCRN4L; Ccr4c; NOCT; NOC", "protein_names_uniprotkb": "Nocturnin; 3.1.3.108; Carbon catabolite repression 4-like protein", "protein_names_refseq": "CCR4 carbon catabolite repression 4-like; CCR4 protein homolog; CCR4-like (carbon catabolite repression 4, S.cerevisiae); carbon catabolite repression 4-like protein; circadian deadenylase NOC; nocturnin", "tax_id": 9606, "disease": "", "pathway": " (hsa:25819); (R-HSA-1368108)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10521507;11018023;11162494;11241162;12130638;12406875;12738229;14672706;15500444;15560782;16821125;16857194;18587630;19710929;19913121;22331129;22608110;23481700;26375851;26992070;28228285;28832583;28904123;29242379;29786170;29860338;2991279;30389976;30833945;31147539;31217245;31467910;31844290;31848261;32387766;32839274;32938616;33717175;33912179;35051231;35580925;39302247;7981125;8618898", "class_list": "", "function": "A human lung cancer cell line SBC-5 that efficiently metastasized to bone when intravenously injected into SCID mice was found to express CCR4., [RefSeq, PubMed]; Differential processing and localization of human Nocturnin controls metabolism of mRNA and nicotinamide adenine dinucleotide cofactors., [RefSeq, PubMed]; Measuring NOCTURNIN expression levels in human peripheral blood lymphocytes can improve investigations on the relationship between changes in circadian rhythm and metabolic disorders. Shift workers show higher NOCTURNIN levels than daytime worker Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Phosphatase which catalyzes the conversion of NADP(+) to NAD(+) and of NADPH to NADH (PubMed:31147539). Shows a small preference for NADPH over NADP(+) (PubMed:31147539). Represses translation and promotes degradation of target mRNA molecules (PubMed:29860338). Plays an important role in post-transcriptional regulation of metabolic genes under circadian control (By similarity). Exerts a rhythmic post-transcriptional control of genes necessary for metabolic functions including nutrient absorption, glucose/insulin sensitivity, lipid metabolism, adipogenesis, inflammation and osteogenesis (By similarity). Plays an important role in favoring adipogenesis over osteoblastogenesis and acts as a key regulator of the adipogenesis/osteogenesis balance (By similarity). Promotes adipogenesis by facilitating PPARG nuclear translocation which activates its transcriptional activity (By similarity). Regulates circadian expression of NOS2 in the liver and negatively regulates the circadian expression of IGF1 in the bone (By similarity). Critical for proper development of early embryos (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; The protein encoded by this gene is highly similar to Nocturnin, a gene identified as a circadian clock regulated gene in Xenopus laevis. This protein and Nocturnin protein share similarity with the C-terminal domain of a yeast transcription factor, carbon catabolite repression 4 (CCR4). The mRNA abundance of a similar gene in mouse has been shown to exhibit circadian rhythmicity, which suggests a role for this protein in clock function or as a circadian clock effector. [provided by RefSeq, Jul 2008]., [RefSeq]; The transcription of human nocturnin gene displayed circadian oscillations in Huh7 cells (a human hepatoma cell line) and was regulated by CLOCK/BMAL1 heterodimer via the E-box of nocturnin promoter., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 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": "D3DNY5;Q14D51;Q9HD93;Q9HD94;Q9HD95", "ec_number_list": "2.3.1.48;3.1.3.108", "go_molecular_function": "GO:0003729 mRNA binding;GO:0046872 metal ion binding;GO:0000175 3'-5'-RNA exonuclease activity;GO:0004535 poly(A)-specific ribonuclease activity;GO:0019178 NADP phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0006739 NADP+ metabolic process;GO:0010629 negative regulation of gene expression;GO:0032496 response to lipopolysaccharide;GO:0045600 positive regulation of fat cell differentiation;GO:0048255 mRNA stabilization", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q9UK39-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UMY1-1", "uniprot_id": "UTP16_HUMAN", "mass": 29426.0, "length": 257, "protein_name": "U3 small nucleolar RNA-associated protein NOL7", "gene_name": "NOL7", "organism": "Human", "refseq_name": "U3 small nucleolar RNA-associated protein NOL7", "refseq_ac": "NP_001304653", "gene_names_uniprotkb": "NOL7; C6orf90; NOP27", "gene_names_refseq": "C6orf90; NOL7; PQBP3; RARG-1; dJ223E5.2", "protein_names_uniprotkb": "U3 small nucleolar RNA-associated protein NOL7; Nucleolar protein 7; Nucleolar protein of 27 kDa; U3 snoRNA-associated protein NOL7", "protein_names_refseq": "U3 small nucleolar RNA-associated protein NOL7; U3 snoRNA-associated protein NOL7; nucleolar protein 7, 27kDa; nucleolar protein of 27 kDa; polyglutamine binding protein 3; retinoic acid repressible protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:51406)", "pathway_count": 1, "publication_count": 77, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11790298;12429849;16205646;19007248;19691289;20068231;20112406;23186163;23481700;24714562;24715725;25505266;25576301;25645385;26154972;26375851;26728094;26992070;27600516;27846572;27862975;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29557506;29632711;29786170;29789417;30315122;30429286;30524438;30779550;30833945;31154438;31217245;31717259;31844290;31848261;31937595;31998317;32157095;32488085;32502341;32938616;32983136;33298915;33592498;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34211107;34516797;34561969;34642294;34932366;35051231;35561310;35580925;36010968;36241641;36284347;36581221;37246770;37938771;39103492", "class_list": "", "function": "Functions as part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit that coordinates the first two steps of ribosome biogenesis in transcription of the primary transcript pre-RNA and pre-18S processing (PubMed:34516797, PubMed:37246770). 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). This subunit is required for processing of the 5'-external transcribed spacer sequence (5'ETS) of the primary transcript pre-rRNA to yield the 18S rRNA (PubMed:37246770). Also plays a role in maintaining early pre-rRNA levels, either by assisting in its transcription or stability (PubMed:37246770)., [UniProtKB, PubMed, PubMed]; Human nucleolar protein 7 (NOL7) is required for early pre-rRNA accumulation and pre-18S rRNA processing., [RefSeq, PubMed]; NOL7 facilitates melanoma progression and metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; PQBP3 prevents senescence by suppressing PSME3-mediated proteasomal Lamin B1 degradation., [RefSeq, PubMed]; The protein encoded by this gene localizes to the nucleolus, where it maintains nucleolar structure and cell growth rates. The encoded protein also functions as a tumor suppressor and regulator of angiogenesis. The RB tumor suppressor gene recruits transcription factors to this gene and positively regulates its expression. Two transcript variants encoding the same protein 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": 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": 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": "Q5T297;Q9Y3U7", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0032040 small-subunit processome", "go_biological_process": "GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q9UMY1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2I1-1", "uniprot_id": "NISCH_HUMAN", "mass": 166629.0, "length": 1504, "protein_name": "Nischarin", "gene_name": "NISCH", "organism": "Human", "refseq_name": "nischarin isoform 3", "refseq_ac": "NP_001263223", "gene_names_uniprotkb": "NISCH; IRAS; KIAA0975", "gene_names_refseq": "I-1; IR1; IRAS; NISCH; hIRAS", "protein_names_uniprotkb": "Nischarin; I-1 receptor candidate protein; I-1; I1R candidate protein; I1R; IR1; Imidazoline receptor 1; Imidazoline receptor antisera-selected protein; Imidazoline-1 receptor candidate protein; Imidazoline-1 receptor; hIRAS", "protein_names_refseq": "I-1 receptor candidate protein; I1R candidate protein; imidazoline receptor 1; imidazoline receptor antisera selected; nischarin isoform 3", "tax_id": 9606, "disease": "otitis media (Disease Ontology:DOID:10754); hypertension (Disease Ontology:DOID:10763); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:11188); (R-HSA-9013149); (R-HSA-9696264); (R-HSA-9696270)", "pathway_count": 4, "publication_count": 314, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10664463;10699171;10699464;10873802;10882231;10958683;11007481;11058585;11085924;11149925;11237011;11373293;11396949;11431473;11432776;11584276;11672528;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912194;11912491;11940653;11961559;12021582;12071859;12093360;12096337;12195014;12221096;12244061;12351724;12432077;12531887;12546821;12547822;12650940;12665586;12842009;12857875;12868002;12877655;12923183;14512443;14514689;1464587;14675773;14718541;14732713;15023524;15028619;15028621;15033976;15064355;15107133;15133129;15147912;15302923;15339924;15342493;15475348;15485661;15507211;15579468;15601624;15611138;15728722;15738000;15850391;15858067;15897194;16002401;16112081;16116428;16184169;16243036;16473593;16481321;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;18996843;19136556;19269969;19494238;19605563;19673492;19690332;19713215;19934221;20068231;20400958;20460433;20679435;20810653;20811643;21148482;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22475431;22544926;22608513;22734669;22898188;22970203;23186163;23209303;23255595;23288169;23434736;23475216;23481700;23572524;23572525;23707487;23718289;23940355;24086303;24259668;24335996;24352656;24690281;24715725;24859002;24933155;24960694;25024229;25211221;25428919;25576301;25589627;25645385;25704760;25721503;25795300;25862245;25880248;25888806;25892735;26129894;26154972;26375851;26529257;26768311;26887924;26969432;26992070;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27806292;27846572;27862975;27920218;28063628;28114311;28196833;28218747;28228285;28649982;28832583;28904123;29089502;29242379;29358323;29382922;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30429286;30524438;30853411;31844290;31871319;32157095;32203420;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;34727954;34932366;35051231;35580925;36010968;36215666;36241641;36284347;36716956;37382661;37443018;37938771;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8649376;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9305890;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9822598;9843499;9851558;9988689", "class_list": "", "function": "Acts either as the functional imidazoline-1 receptor (I1R) candidate or as a membrane-associated mediator of the I1R signaling. Binds numerous imidazoline ligands that induces initiation of cell-signaling cascades triggering to cell survival, growth and migration. Its activation by the agonist rilmenidine induces an increase in phosphorylation of mitogen-activated protein kinases MAPK1 and MAPK3 in rostral ventrolateral medulla (RVLM) neurons that exhibited rilmenidine-evoked hypotension (By similarity). Blocking its activation with efaroxan abolished rilmenidine-induced mitogen-activated protein kinase phosphorylation in RVLM neurons (By similarity). Acts as a modulator of Rac-regulated signal transduction pathways (By similarity). Suppresses Rac1-stimulated cell migration by interacting with PAK1 and inhibiting its kinase activity (By similarity). Also blocks Pak-independent Rac signaling by interacting with RAC1 and inhibiting Rac1-stimulated NF-kB response element and cyclin D1 promoter activation (By similarity). Also inhibits LIMK1 kinase activity by reducing LIMK1 'Tyr-508' phosphorylation (By similarity). Inhibits Rac-induced cell migration and invasion in breast and colon epithelial cells (By similarity). Inhibits lamellipodia formation, when overexpressed (By similarity). Plays a role in protection against apoptosis. Involved in association with IRS4 in the enhancement of insulin activation of MAPK1 and MAPK3. When overexpressed, induces a redistribution of cell surface ITGA5 integrin to intracellular endosomal structures., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Contribution of Nischarin/IRAS in CNS development, injury and diseases. Review article, [RefSeq, PubMed]; Identification of a psychiatric risk gene NISCH at 3p21.1 GWAS locus mediating dendritic spine morphogenesis and cognitive function. Publication Status: Online-Only, [RefSeq, PubMed]; Nischarin expression may have differing roles in male and female melanoma patients., [RefSeq, PubMed]; Results describe three alternatively spliced transcripts of the human I(1)-imidazoline receptor candidate gene, IRAS., [RefSeq, PubMed]; The heart possesses imidazoline I1-receptors that are up-regulated in the presence of hypertension or heart failure, which suggests their involvement in cardiovascular regulation., [RefSeq, PubMed]; This gene encodes a nonadrenergic imidazoline-1 receptor protein that localizes to the cytosol and anchors to the inner layer of the plasma membrane. The orthologous mouse protein has been shown to influence cytoskeletal organization and cell migration by binding to alpha-5-beta-1 integrin. In humans, this protein has been shown to bind to the adapter insulin receptor substrate 4 (IRS4) to mediate translocation of alpha-5 integrin from the cell membrane to endosomes. Expression of this protein was reduced in human breast cancers while its overexpression reduced tumor growth and metastasis; possibly by limiting the expression of alpha-5 integrin. In human cardiac tissue, this gene was found to affect cell growth and death while in neural tissue it affected neuronal growth and differentiation. Alternative splicing results in multiple transcript variants encoding differerent isoforms. Some isoforms lack the expected C-terminal domains of a functional imidazoline receptor. [provided by RefSeq, Jan 2013]., [RefSeq]; Transcription factor KLF15 inhibits the proliferation and migration of gastric cancer cells via regulating the TFAP2A-AS1/NISCH 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "reported_glycation": 0, "reported_snv": 10, "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": "C9J245;Q6PGP3;Q6PIB4;Q7L8M3;Q7Z2X6;Q9UES6;Q9UEU4;Q9UFW3", "ec_number_list": "", "go_molecular_function": "GO:0005178 integrin binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0055037 recycling endosome", "go_biological_process": "GO:0006915 apoptotic process;GO:0016601 Rac protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 31.5, "record_id": "Q9Y2I1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5X5-1", "uniprot_id": "NPFF2_HUMAN", "mass": 60270.0, "length": 522, "protein_name": "Neuropeptide FF receptor 2", "gene_name": "NPFFR2", "organism": "Human", "refseq_name": "neuropeptide FF receptor 2 isoform 3", "refseq_ac": "NP_001138228", "gene_names_uniprotkb": "NPFFR2; GPR74; NPFF2; NPGPR", "gene_names_refseq": "GPR74; HLWAR77; NPFF2; NPFFR2; NPGPR", "protein_names_uniprotkb": "Neuropeptide FF receptor 2; G protein-coupled receptor 74; G protein-coupled receptor HLWAR77; Neuropeptide G protein-coupled receptor", "protein_names_refseq": "G-protein coupled receptor 74; G-protein coupled receptor HLWAR77; neuropeptide FF 2; neuropeptide FF receptor 2 isoform 3; neuropeptide G-protein coupled receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:10886); (R-HSA-389397); (R-HSA-416476)", "pathway_count": 3, "publication_count": 46, "publication_id_list": "10079187;10191087;10364220;10567430;10583376;10727532;10837915;10851242;10861009;11015615;11024015;11030716;11237011;11574155;11742120;11753430;12120503;12714592;15951850;16182515;16268778;16339447;16429482;16754659;16923326;18434541;18515384;18577758;18936096;1905813;24715725;26211894;2841328;3086311;31844290;33058233;35051231;35580925;36241641;36535464;7937899;8664309;9224703;9305846;9491897;9770463", "class_list": "", "function": "Effects of systematic N-terminus deletions and benzoylations of endogenous RF-amide peptides on NPFF1R, NPFF2R, GPR10, GPR54 and GPR103., [RefSeq, PubMed]; Genome-wide association analysis of psoriasis patients treated with anti-TNF drugs., [RefSeq, PubMed]; NPFFR2 gene compound heterozygous variants associated with preeclampsia identified by whole-exome sequencing. Erratum:[Gene. 2023 Dec 30;889:147759. doi: 10.1016/j.gene.2023.147759. PMID: 37696100], [RefSeq, PubMed]; Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety of naturally occurring or synthetic FMRF-amide like ligands. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system., [UniProtKB, UniProtKB, UniProtKB, PubMed]; This gene encodes a member of a subfamily of G-protein-coupled neuropeptide receptors. This protein is activated by the neuropeptides A-18-amide (NPAF) and F-8-amide (NPFF) and may function in pain modulation and regulation of the opioid system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "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": "Q96RV1;Q9NR49", "ec_number_list": "", "go_molecular_function": "GO:0031628 opioid receptor binding;GO:0004930 G protein-coupled receptor activity;GO:0008188 neuropeptide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0032870 cellular response to hormone stimulus;GO:0043408 regulation of MAPK cascade;GO:0009582 detection of abiotic stimulus", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q9Y5X5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6Y0-1", "uniprot_id": "NS1BP_HUMAN", "mass": 71729.0, "length": 642, "protein_name": "Influenza virus NS1A-binding protein", "gene_name": "IVNS1ABP", "organism": "Human", "refseq_name": "influenza virus NS1A-binding protein", "refseq_ac": "NP_006460", "gene_names_uniprotkb": "IVNS1ABP; ARA3; FLARA3; HSPC068; KIAA0850; KLHL39; NS1BP; NS1", "gene_names_refseq": "ARA3; FLARA3; HSPC068; IMD70; IVNS1ABP; KLHL39; ND1; NS-1; NS1-BP; NS1BP", "protein_names_uniprotkb": "Influenza virus NS1A-binding protein; Aryl hydrocarbon receptor-associated protein 3; Kelch-like protein 39; NS1-BP; NS1-binding protein", "protein_names_refseq": "NCX downstream gene 1; NS1-binding protein; aryl hydrocarbon receptor-associated 3; aryl hydrocarbon receptor-associated protein 3; influenza virus NS1A-binding protein; kelch-like family member 39; kelch-like protein 39", "tax_id": 9606, "disease": "immunodeficiency 70 (Disease Ontology:DOID:0112005)", "pathway": " (hsa:10625)", "pathway_count": 1, "publication_count": 103, "publication_id_list": "11237011;16582008;16964243;17081983;17996313;18669648;18691976;18991276;19413330;19651622;19664995;19690332;20068231;20532202;21872626;21993680;23186163;23481700;23825951;24366607;24397554;24714562;25418920;25576301;25619834;25645385;25880248;26154972;26811146;26929215;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29497022;29508533;29557506;29786170;29789417;29871674;29921878;30315122;30379171;30429286;30538201;30779550;30833945;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32499645;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36241641;36284347;37103221;37938771;40307207;40914422;9696811", "class_list": "", "function": "(Microbial infection) Involved in the alternative splicing of influenza A virus M1 mRNA through interaction with HNRNPK, thereby facilitating the generation of viral M2 protein (PubMed:23825951, PubMed:9696811). The BTB and Kelch domains are required for splicing activity (PubMed:30538201). Promotes export of viral M mRNA and RNP via its interaction with mRNA export factor ALYREF (PubMed:30538201)., [UniProtKB, PubMed, PubMed, PubMed]; Comparison of the Kelch-domain structures of NS1-BP and its homologues showed that the Gly-Gly pair in beta-strand B and the hydrophobic Trp residue in beta-strand D are highly conserved, while the B-C loops in blades 2 and 6 are variable, [RefSeq, PubMed]; Data show that heterogeneous nuclear ribonucleoprotein K (hnRNP K) and influenza virus NS1A binding protein (NS1-BP) regulate host splicing events and that viral infection causes mis-splicing of some of these transcripts. Publication Status: Online-Only, [RefSeq, PubMed]; In esophageal squamous cell carcinoma (ESCC) tissues, c-Myc expression was inversely correlated with NS1-binding protein (NS1-BP) levels, and was associated with a shorter disease-specific survival (DSS). Publication Status: Online-Only, [RefSeq, PubMed]; Involved in many cell functions, including pre-mRNA splicing, the aryl hydrocarbon receptor (AHR) pathway, F-actin organization and protein ubiquitination. Plays a role in the dynamic organization of the actin skeleton as a stabilizer of actin filaments by association with F-actin through Kelch repeats (By similarity). Protects cells from cell death induced by actin destabilization (By similarity). Functions as modifier of the AHR/Aryl hydrocarbon receptor pathway increasing the concentration of AHR available to activate transcription (PubMed:16582008). In addition, functions as a negative regulator of BCR(KLHL20) E3 ubiquitin ligase complex to prevent ubiquitin-mediated proteolysis of PML and DAPK1, two tumor suppressors (PubMed:25619834). Inhibits pre-mRNA splicing (in vitro) (PubMed:9696811). May play a role in mRNA nuclear export (PubMed:30538201)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Soluble NS1 Antagonizes IgG- and IgA- Mediated Monocytic Phagocytosis of DENV Infected Cells., [RefSeq, PubMed]; The central BACK domain of NS1-BP interacts directly with splicing factors such as hnRNP K and PTBP1 and with the viral NS1 protein., [RefSeq, PubMed]; These findings further support the distinct roles of alpha-enolase and its MBP-1 variant in maintaining cell homeostasis. Moreover, these data suggest a novel function for NS1-BP in the control of cell 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": 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": 3, "reported_glycation": 0, "reported_snv": 14, "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": "A8K8R6;Q1G4T6;Q1G4T7;Q5TF75;Q6NW38;Q7LCG2;Q9NZX0;Q9Y480", "ec_number_list": "", "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:0003677 DNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0009615 response to virus;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0008380 RNA splicing;GO:0031397 negative regulation of protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "Q9Y6Y0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z7B1-1", "uniprot_id": "PIGW_HUMAN", "mass": 56882.0, "length": 504, "protein_name": "Glucosaminyl-phosphatidylinositol-acyltransferase PIGW", "gene_name": "PIGW", "organism": "Human", "refseq_name": "glucosaminyl-phosphatidylinositol- acyltransferase PIGW", "refseq_ac": "NP_001333683", "gene_names_uniprotkb": "PIGW", "gene_names_refseq": "Gwt1; HPMRS5; PIGW", "protein_names_uniprotkb": "Glucosaminyl-phosphatidylinositol-acyltransferase PIGW; 2.3.-.-; GlcN-PI-acyltransferase; PIG-W; Phosphatidylinositol-glycan biosynthesis class W protein", "protein_names_refseq": "GPI-anchored wall protein transfer 1 homolog; glcN-PI-acyltransferase; glucosaminyl-phosphatidylinositol- acyltransferase PIGW; phosphatidylinositol-glycan biosynthesis class W protein", "tax_id": 9606, "disease": "hyperphosphatasia with impaired intellectual development syndrome 5 (Disease Ontology:DOID:0070432)", "pathway": " (hsa:284098); (R-HSA-162710)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10.1101/2023.09.13.557529;10069808;10089216;10944123;11226175;11237011;14517336;14742432;15623507;15632136;15635094;15720390;16162815;17924679;23186163;24367057;25892735;26992070;27626616;28218747;29437277;29557506;29632046;29769354;30315122;30679815;30813920;31844290;32157095;32198969;32265295;32357974;32387766;33537174;33968037;34185709;35788948;36010968;8861954;8900170;9463366", "class_list": "glycogene", "function": "Acyltransferase that catalyzes the acyl transfer from an acyl-CoA at the 2-OH position of the inositol ring of a 6-(alpha-D-glucosaminyl)-1-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol (glucosaminyl phosphatidylinositol, GlcN-PI) to generate a 2-acyl-6-alpha-D-glucosaminyl-1-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol (glucosaminyl acyl phosphatidylinositol, GlcN-(acyl)PI) and participates in the fourth step of GPI-anchor biosynthesis (By similarity). Required for the transport of GPI-anchored proteins to the plasma membrane (PubMed:24367057). Acylation during GPI-anchor biosynthesis is not essential for the subsequent mannosylation and is usually removed soon after the attachment of GPIs to proteins (By similarity)., [UniProtKB, UniProtKB, PubMed]; PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature., [RefSeq, PubMed]; Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings. Review article, [RefSeq, PubMed]; The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of the age-dependent epileptic encephalopathy West syndrome as well as a syndrome exhibiting hyperphosphatasia and cognitive disability (HPMRS5). [provided by RefSeq, Jul 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 625, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8N9G3", "ec_number_list": "2.3.-.-", "go_molecular_function": "GO:0008374 O-acyltransferase activity;GO:0032216 glucosaminyl-phosphatidylinositol O-acyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0006505 GPI anchor metabolic process;GO:0006506 GPI anchor biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q7Z7B1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A4QPH2-1", "uniprot_id": "PI4P2_HUMAN", "mass": 66944.0, "length": 592, "protein_name": "Putative phosphatidylinositol 4-kinase alpha-like protein P2", "gene_name": "PI4KAP2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "PI4KAP2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative phosphatidylinositol 4-kinase alpha-like protein P2", "protein_names_refseq": "", "tax_id": 9606, "disease": "chromosome 22q11.2 deletion syndrome, distal (Disease Ontology:DOID:0060413)", "pathway": "", "pathway_count": 0, "publication_count": 19, "publication_id_list": "27600516;27846572;27920218;28228285;28514659;28832583;28834231;29242379;29393594;29557506;29786170;30315122;30429286;30524438;31844290;32350084;32357974;32387766;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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6ICJ0;Q6ZT68;Q8WUK7", "ec_number_list": "", "go_molecular_function": "GO:0016301 kinase activity", "go_cellular_component": "", "go_biological_process": "GO:0046854 phosphatidylinositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "A4QPH2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NC86-1", "uniprot_id": "PINLY_HUMAN", "mass": 21926.0, "length": 204, "protein_name": "phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein", "gene_name": "PINLYP", "organism": "Human", "refseq_name": "phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein isoform 2", "refseq_ac": "NP_001180551", "gene_names_uniprotkb": "PINLYP", "gene_names_refseq": "PINLYP", "protein_names_uniprotkb": "phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein", "protein_names_refseq": "phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein isoform 2; phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:390940)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "28832583;29351928;30429286;31844290;34561969;35580925;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": 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": "B7Z457;O95053", "ec_number_list": "", "go_molecular_function": "GO:0004859 phospholipase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "A6NC86-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DJD9-1", "uniprot_id": "PEPA5_HUMAN", "mass": 41993.0, "length": 388, "protein_name": "Pepsin A-5", "gene_name": "PGA5", "organism": "Human", "refseq_name": "pepsin A-5 preproprotein", "refseq_ac": "NP_055039", "gene_names_uniprotkb": "PGA5", "gene_names_refseq": "PGA5; Pg5", "protein_names_uniprotkb": "Pepsin A-5; 3.4.23.1; Pepsinogen-5", "protein_names_refseq": "Pepsin A-4; Pepsinogen-4; pepsin A-5 preproprotein; pepsin A-5; pepsin A; pepsinogen 5, group I (pepsinogen A); pepsinogen-5", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:5222); (R-HSA-5683826)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10368295;10485905;10496952;10580105;10625644;11237011;11278984;11563989;12185598;12882447;1325798;1339284;1415726;1568474;15926889;16006481;16199866;1636732;16423266;16630564;17496061;18020944;18692472;1898081;19100526;19144824;1928448;19824815;20054143;20147294;20338813;20418254;23069847;23590306;23684610;23922714;2415509;24743970;2515193;25424900;2587265;2610270;2714789;29557506;2995821;3037072;31046139;3197840;33220027;3366248;34631;3755136;3801783;4909888;6300126;7597036;7663352;8314870;8428971;8522976;8527267;8636114;9813380", "class_list": "", "function": "Local synthesis of pepsin and proton pumps in BE and EAC is not uncommon. Absence of these molecules in normal (noncancer) esophagi, SCC, and in vitro data support a role for pepsin in reflux-attributed carcinogenic changes in the esophagus, [RefSeq, PubMed]; Shows particularly broad specificity; although bonds involving phenylalanine and leucine are preferred, many others are also cleaved to some extent., [UniProtKB]; The Role of Salivary Pepsin in the Diagnosis of Gastroesophageal Reflux Disease (GERD) Evaluated Using High-Resolution Manometry and 24-Hour Multichannel Intraluminal Impedance-pH Monitoring. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein precursor of the digestive enzyme pepsin, a member of the peptidase A1 family of endopeptidases. The encoded precursor is secreted by gastric chief cells and undergoes autocatalytic cleavage in acidic conditions to form the active enzyme, which functions in the digestion of dietary proteins. This gene is found in a cluster of related genes on chromosome 11, each of which encodes one of multiple pepsinogens. Pepsinogen levels in serum may serve as a biomarker for atrophic gastritis and gastric cancer. [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": 1, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K749;B7ZW62;B7ZW75;P00790;Q7M4R0;Q8N1E3", "ec_number_list": "3.4.23.-;3.4.23.1", "go_molecular_function": "GO:0004190 aspartic-type endopeptidase activity", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0097486 multivesicular body lumen", "go_biological_process": "GO:0006508 proteolysis;GO:0007586 digestion", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "P0DJD9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15120-1", "uniprot_id": "PLCB_HUMAN", "mass": 30914.0, "length": 278, "protein_name": "1-acyl-sn-glycerol-3-phosphate acyltransferase beta", "gene_name": "AGPAT2", "organism": "Human", "refseq_name": "1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform b", "refseq_ac": "NP_001012745", "gene_names_uniprotkb": "AGPAT2", "gene_names_refseq": "1-AGPAT2; AGPAT2; BSCL1; BSCL; LPAAB; LPAAT-beta; LPLAT2", "protein_names_uniprotkb": "1-acyl-sn-glycerol-3-phosphate acyltransferase beta; 1-AGP acyltransferase 2; 1-AGPAT 2; 1-acylglycerol-3-phosphate O-acyltransferase 2; 2.3.1.51; LPAAT-beta; Lysophosphatidic acid acyltransferase beta", "protein_names_refseq": "1-AGP acyltransferase 2; 1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform b; 1-acyl-sn-glycerol-3-phosphate acyltransferase beta; 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta); lysophosphatidic acid acyltransferase-beta; lysophospholipid acyltransferase 2; testicular tissue protein Li 143", "tax_id": 9606, "disease": "congenital generalized lipodystrophy (Disease Ontology:DOID:0050585); congenital generalized lipodystrophy type 1 (Disease Ontology:DOID:0111135); lipodystrophy (Disease Ontology:DOID:811)", "pathway": " (hsa:10555); (R-HSA-1483166); (R-HSA-6798695); (R-HSA-9841922)", "pathway_count": 4, "publication_count": 110, "publication_id_list": "10425206;10455175;10506173;10553003;10558993;10681567;10835357;10882139;11027271;11031251;11112443;11788596;11830583;11967537;12063250;12161451;12359733;12522102;12829629;12963729;1310260;14573790;15028826;15367102;15629135;16380219;16460752;16495223;16620771;16704971;16864775;17028579;17170135;17707131;17761950;18238778;18718904;19043829;19075029;19172745;19336658;19666841;20705608;21173190;21873652;22777291;22922100;23176821;23176823;23650620;23807634;24966474;25576301;25892735;26711011;26992070;28218747;28228285;28514659;28834231;28904123;2925608;29393594;29437277;29493099;30315122;30410026;30429286;31154438;31844290;31848261;32094408;32117065;32157095;32161166;32387766;32412105;32938616;32983136;33329381;33592498;33968037;33981976;34087483;34164774;3458202;34824276;35051231;35580925;36215666;36241641;7060561;7821823;8163052;8186247;8300559;8521497;8521498;8530346;8687421;8692836;9065481;9171241;9188469;9212163;9242711;9291118;9461603;9582313;9744270", "class_list": "", "function": "A rare frameshift mutation in the AGPAT2 gene in a family from gaza with congenital generalized lipodystrophy., [RefSeq, PubMed]; AGPAT2 interaction with CDP-diacylglycerol synthases promotes the flux of fatty acids through the CDP-diacylglycerol pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Circular RNA circ-CHI3L1.2 modulates cisplatin resistance of osteosarcoma cells via the miR-340-5p/LPAATbeta axis., [RefSeq, PubMed]; Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease. Publication Status: Online-Only, [RefSeq, PubMed]; Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Oligomers of the lipodystrophy protein seipin may co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "O00516;O15106;Q5VUD3;Q5VUD4;Q9BSV7;Q9BWR7", "ec_number_list": "3.4.24.81;2.1.1.364;6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;2.3.1.51;1.14.19.17;5.2.1.-;1.14.11.68;2.3.1.20;2.3.1.76;2.7.11.1;3.4.21.73;1.6.3.-;3.1.3.48;1.14.14.18;1.2.1.5;1.2.1.28;1.2.1.7;1.2.1.48;2.7.11.22;2.7.11.23;3.6.5.2;3.4.24.-;7.6.2.1;2.3.1.48;2.3.1.-;3.2.2.6;1.1.1.-;3.1.4.4;2.3.1.15;2.3.2.27;2.3.1.121;2.3.1.23;2.3.1.67;2.3.1.n6;2.3.1.n7;2.3.1.78;2.3.1.25;3.1.1.4;3.1.1.3", "go_molecular_function": "GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0001961 positive regulation of cytokine-mediated signaling pathway;GO:0006654 phosphatidic acid biosynthetic process;GO:0008544 epidermis development;GO:0001819 positive regulation of cytokine production;GO:0009410 response to xenobiotic stimulus", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "O15120-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15428-1", "uniprot_id": "PINL_HUMAN", "mass": 11021.0, "length": 100, "protein_name": "Putative PIN1-like protein", "gene_name": "PIN1P1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "PIN1P1; PIN1L", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative PIN1-like protein; Peptidylprolyl cis-trans isomerase NIMA-interacting 1 pseudogene 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "secondary hyperparathyroidism (Disease Ontology:DOID:12466); asthma (Disease Ontology:DOID:2841)", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "9299231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RBW1;Q5VW75", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "O15428-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75038-1", "uniprot_id": "PLCH2_HUMAN", "mass": 154668.0, "length": 1416, "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2", "gene_name": "PLCH2", "organism": "Human", "refseq_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform 2", "refseq_ac": "NP_001289941", "gene_names_uniprotkb": "PLCH2; KIAA0450; PLCL4", "gene_names_refseq": "PLC-L4; PLC-eta2; PLCH2; PLCL4; PLCeta2", "protein_names_uniprotkb": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2; 3.1.4.11; PLC-L4; PLC-eta2; Phosphoinositide phospholipase C-eta-2; Phosphoinositide phospholipase C-like 4; Phospholipase C-eta-2; Phospholipase C-like protein 4", "protein_names_refseq": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform 2; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2; phosphoinositide phospholipase C-eta-2; phosphoinositide phospholipase C-like 4; phospholipase C-eta2; phospholipase C-like 4; phospholipase C-like protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:9651); (R-HSA-1855204)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10593988;10866302;11022047;11022048;11042108;11118617;11237011;11909533;12223481;12747803;1333955;15037625;15140260;15316017;15474001;15579586;15583837;15702972;15790568;15899900;16107206;1644792;1718960;18361507;19179337;20649401;21474938;2550068;26154972;2841328;28832583;29557506;30379171;31844290;32157095;32387766;32938616;34171305;34509645;34932366;35051231;35494241;7721860;7761412;7890667;8407970;8454637;8530101;8662638;8723348;8769125;9360711;9430698;9593664", "class_list": "", "function": "Molecular cloning of PLC-eta1 and PLC-eta2, [RefSeq, PubMed]; PLC(eta)2 is a neuron-specific isozyme that may be important for the formation and/or maintenance of the neuronal network in the postnatal brain, [RefSeq, PubMed]; PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009]., [RefSeq]; PLCH2 might be a putative candidate gene for the neurodevelopmental delay observed in patients bearing 1p36.3 deletions. Review article, [RefSeq, PubMed]; Purified Gbeta 1gamma 2 stimulated the activity of purified PLC-eta2 in a concentration-dependent manner similar to that observed with purified PLC-beta2., [RefSeq, PubMed]; The molecular cloning and sequencing of phospholipase C eta2 are reported., [RefSeq, PubMed]; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes (PubMed:18361507). This phospholipase activity is very sensitive to calcium. May be important for formation and maintenance of the neuronal network in the postnatal brain (By similarity)., [UniProtKB, UniProtKB, PubMed]; The researchers investigated the D1S80 minisatellite and associated single nucelotide polymorphisms in a Tamil population in India., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 29, "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": "A2VCM3;B9DI80;Q3LUA8;Q86XJ2;Q86XU1;Q86YU7;Q8TEH5;Q8WUS6", "ec_number_list": "3.1.4.11", "go_molecular_function": "GO:0004435 phosphatidylinositol-4,5-bisphosphate phospholipase C activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0016042 lipid catabolic process;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0051209 release of sequestered calcium ion into cytosol;GO:0048015 phosphatidylinositol-mediated signaling;GO:0046488 phosphatidylinositol metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "O75038-1", "record_type": "protein" } ]